WorldWideScience

Sample records for early disease diagnosis

  1. Pompe disease: early diagnosis and early treatment make a difference.

    Science.gov (United States)

    Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung

    2013-08-01

    Pompe disease (glycogen storage disease type II or acid maltase deficiency) is a lysosomal disorder in which acid α-glucosidase (GAA) deficiencies lead to intralysosomal accumulation of glycogen in all tissues; most notably in skeletal muscles. Both the patient's age at the onset of Pompe disease symptoms and the rate of deterioration caused by the disease can vary considerably. In classical infant-onset Pompe disease (IOPD), symptoms start very early in life, and death occurs soon afterward if the disease remains untreated. In later-onset Pompe disease, symptoms are slower to appear, and patients often progress to wheelchair confinement and eventual respiratory failure. A diagnosis can be made by screening for GAA in dried blood samples, followed either by GAA assessment in lymphocytes or in fibroblasts or by the genetic analysis of mutations. Treatment by enzyme replacement therapy (ERT) with alglucosidase alfa was approved for human use in 2006. In classical IOPD, treatment significantly lengthens survival and improves motor development and cardiac function. The sooner ERT begins, the better are the results. Newborn screening aims to take advantage of different technologies for diagnosing and treating newborns early on and it yields better outcomes. However, newborns diagnosed early and other long-term survivors may encounter fresh problems, making up a new phenotype of IOPD patients. Further modifications of the treatment, such as a decrease in immune responses to ERT, a higher dosage, a better uptake formulation, and gene therapy delivered locally or systemically are being explored.

  2. Pompe Disease: Early Diagnosis and Early Treatment Make a Difference

    Directory of Open Access Journals (Sweden)

    Yin-Hsiu Chien

    2013-08-01

    Full Text Available Pompe disease (glycogen storage disease type II or acid maltase deficiency is a lysosomal disorder in which acid α-glucosidase (GAA deficiencies lead to intralysosomal accumulation of glycogen in all tissues; most notably in skeletal muscles. Both the patient's age at the onset of Pompe disease symptoms and the rate of deterioration caused by the disease can vary considerably. In classical infant-onset Pompe disease (IOPD, symptoms start very early in life, and death occurs soon afterward if the disease remains untreated. In later-onset Pompe disease, symptoms are slower to appear, and patients often progress to wheelchair confinement and eventual respiratory failure. A diagnosis can be made by screening for GAA in dried blood samples, followed either by GAA assessment in lymphocytes or in fibroblasts or by the genetic analysis of mutations. Treatment by enzyme replacement therapy (ERT with alglucosidase alfa was approved for human use in 2006. In classical IOPD, treatment significantly lengthens survival and improves motor development and cardiac function. The sooner ERT begins, the better are the results. Newborn screening aims to take advantage of different technologies for diagnosing and treating newborns early on and it yields better outcomes. However, newborns diagnosed early and other long-term survivors may encounter fresh problems, making up a new phenotype of IOPD patients. Further modifications of the treatment, such as a decrease in immune responses to ERT, a higher dosage, a better uptake formulation, and gene therapy delivered locally or systemically are being explored.

  3. Early Stage Disease Diagnosis System Using Human Nail Image Processing

    Directory of Open Access Journals (Sweden)

    Trupti S. Indi

    2016-07-01

    Full Text Available Human’s hand nail is analyzed to identify many diseases at early stage of diagnosis. Study of person hand nail color helps in identification of particular disease in healthcare domain. The proposed system guides in such scenario to take decision in disease diagnosis. The input to the proposed system is person nail image. The system will process an image of nail and extract features of nail which is used for disease diagnosis. Human nail consist of various features, out of which proposed system uses nail color changes for disease diagnosis. Here, first training set data is prepared using Weka tool from nail images of patients of specific diseases. A feature extracted from input nail image is compared with the training data set to get result. In this experiment we found that using color feature of nail image average 65% results are correctly matched with training set data during three tests conducted.

  4. [Cerebrospinal fluid biomarkers for the early diagnosis of Parkinson's disease].

    Science.gov (United States)

    da Costa, Andreia Gomes; Gago, Miguel Fernandes; Garrett, Carolina

    2011-12-01

    In current medical practice, the diagnosis of Parkinson's disease remains essentially clinical. This practice determines that the diagnosis of Parkinson's disease is done in an already advanced neuropathological stage of the disease. The aim of this study is to review the validity of cerebrospinal fluid protein biological markers in the early diagnosis of Parkinson's disease. The a-synuclein and DJ-1 proteins, due to their role in the hereditary Parkinson's disease, have been the most widely studied cerebrospinal biomarkers. Nevertheless, they have had divergent results mostly owing to different processing, identification and control of laboratory techniques. The new proteomic techniques, directed to the detection of multiple undifferentiated proteins in cerebrospinal fluid (eg. ceruloplasmin, chromogranin B, apoH), are promising. The early diagnosis of Parkinson's disease is imperious as it is a progressive neurodegenerative disorder that causes extensive morbidity. Most of current scientific research in Parkinson's disease is focused on the discovery of neuroprotective drugs. Thus, the definition of biomarkers for the early diagnosis of Parkinson's disease is highly relevant.

  5. Morbidity in early Parkinson's disease and prior to diagnosis

    DEFF Research Database (Denmark)

    Frandsen, Rune; Kjellberg, Jakob; Ibsen, Rikke;

    2014-01-01

    BACKGROUND: Nonmotor symptoms are probably present prior to, early on, and following, a diagnosis of Parkinson's disease. Nonmotor symptoms may hold important information about the progression of Parkinson's disease. OBJECTIVE: To evaluated the total early and prediagnostic morbidities in the 3...... years before a hospital contact leading to a diagnosis of Parkinson's disease. METHODS: Retrospective morbidity data from Danish National Patient Registry records (1997-2007) of 10,490 adult patients with a secondary care diagnosis of Parkinson's disease were compared with 42,505 control cases. RESULTS......: Parkinson's disease was associated with significantly higher morbidity rates associated with conditions in the following categories: mental and psychiatric, nervous system, gastrointestinal, musculoskeletal system and connective tissue, genitourinary, abnormal clinical and laboratory findings, injury...

  6. Salivaomics - A promising future in early diagnosis of dental diseases.

    Science.gov (United States)

    Koneru, Suneetha; Tanikonda, Rambabu

    2014-01-01

    Human saliva plays an important role in the health of the oral cavity and of the body as a whole. Salivary diagnostics is a dynamic and emerging field in the diagnosis of oral and systemic diseases. Saliva reflects the physiologic state of the body, including emotional, endocrinal, nutritional, and metabolic variations. The collection of saliva samples is noninvasive, safe, and inexpensive. Traditional clinical criteria are insufficient for determining sites of active disease, for monitoring the response to therapy, or for measuring the degree of susceptibility to future disease progression. Salivaomics includes five diagnostic alphabets proteins, mRNAs, miRNAs, metabolic compounds, and microbes offering substantial advantages because disease states may be accompanied by detectable changes. Salivaomics, the future of saliva-based techniques for early diagnosis of dental diseases, is promising and may offer a robust alternative for clinicians to use in the near future to make clinical decisions.

  7. Salivaomics - A promising future in early diagnosis of dental diseases

    Directory of Open Access Journals (Sweden)

    Suneetha Koneru

    2014-01-01

    Full Text Available Human saliva plays an important role in the health of the oral cavity and of the body as a whole. Salivary diagnostics is a dynamic and emerging field in the diagnosis of oral and systemic diseases. Saliva reflects the physiologic state of the body, including emotional, endocrinal, nutritional, and metabolic variations. The collection of saliva samples is noninvasive, safe, and inexpensive. Traditional clinical criteria are insufficient for determining sites of active disease, for monitoring the response to therapy, or for measuring the degree of susceptibility to future disease progression. Salivaomics includes five diagnostic alphabets proteins, mRNAs, miRNAs, metabolic compounds, and microbes offering substantial advantages because disease states may be accompanied by detectable changes. Salivaomics, the future of saliva-based techniques for early diagnosis of dental diseases, is promising and may offer a robust alternative for clinicians to use in the near future to make clinical decisions.

  8. Biomarkers in the early diagnosis of Parkinson's disease

    Directory of Open Access Journals (Sweden)

    CHEN Sheng-di

    2013-08-01

    Full Text Available Parkinson's disease (PD is a chronic and progressive neurodegenerative disorder. It has become clear that PD can have a preclinical phase, a period during which neurodegeneration has already begun years before the onset of typical motor symptoms. Consequently, if the early neurodegeneration in PD can be timely diagnosed, it will significantly slow down the progression of the disease and improve the quality of life. To date, there is no fully reliable and validated biomarker for the early diagnosis of PD, but some promising biomarker candidates exist.

  9. Palmomental reflex a relevant sign in early Alzheimer's disease diagnosis?

    OpenAIRE

    Gabelle, Audrey; Gutierrez, Laure-Anne; Dartigues, Jean-François; Ritchie, Karen,; Touchon, Jacques; Berr, Claudine

    2016-01-01

    International audience; AbstractBackground: Sophisticated and expensive biomarkers are proposed for the diagnostic of Alzheimer disease (AD). Amyloid process seems to be early in AD and brain amyloid load affects the frontal lobe. Our objective is to determine if certain simple clinical signs especially frontal-related signs could help reach an earlier and better diagnosis. Methods: In the frame of the 3-City cohort, we conducted a nested case-control study comparing incident cases of Alzheim...

  10. Kidney diseases in children - early diagnosis and prevention.

    Science.gov (United States)

    Polenakovic, Momir; Gucev, Zoran; Tasic, Velibor

    2016-01-01

    Pediatric kidney diseases were in the focus of the World Kidney Day 2016. Macedonian pediatric nephrologists gave their contribution with public appearance in kindergartens, primary and secondary schools, with interactive lectures and discussion with the youngest about the kidney function, healthy life style and simple measures to prevent kidney and urinary tract diseases. Besides promotive appearance in the media, series of lectures were presented in front of the health professionals. The aim was to attract the attention of the professionals for early diagnosis and prevention of kidney disease. The action starts in utero, followed by early postnatal imaging and assessment, conservative treatment and in selected cases surgical treatment. The emphasis is on the multidisciplinary and comprehensive approach to children and adolescents with kidney diseases.

  11. Application of Metabonomics in Early Diagnosis of Diseases

    Institute of Scientific and Technical Information of China (English)

    LIU Qiao

    2015-01-01

    With the development of life sciences, people have changed their focus from local research to systematic biology, thus contributing to the development of a series of “omics”, including genomics, transcriptomics, proteomics and metabonomics, etc. Metabonomics is a presently developed new branch of science that can provide qualitative and quantitative analysis on all metabolites with low-molecular quality in the body, tissues or cells of an organism. It recognizes the changes and rules of the biological endogenous substance under the impact of internal and external factors by generally and quantitatively detecting multiple small molecular compounds in biological samples, in hope of ifnding out the metabolic marker clusters in the early stage of diseases so as to provide new pathways for the early diagnosis of the diseases and the realization of individualized drug administration. Additionally, metabonomics research on clinical diseases has become a hot topic and made great achievement in the developmental condition, diagnostic methods, pathogenic mechanism and pharmaceutical efifcacy evaluation of diseases. This study mainly reviewed the application and advances of metabonomics in the early diagnosis of malignant tumors, cardiovascular and respiratory diseases, hoping to provide references and prompts for metabonomics-associated researches.

  12. Magnetic resonance imaging markers for early diagnosis of Parkinson's disease

    Institute of Scientific and Technical Information of China (English)

    Silvia Marino; Rosella Ciurleo; Giuseppe Di Lorenzo; Marina Barresi; Simona De Salvo; Sabrina Giacoppo; Alessia Bramanti; Pietro Lanzafame; Placido Bramanti

    2012-01-01

    Parkinson's disease (PD) is a neurodegenerative disorder characterized by selective and progressive degeneration, as well as loss of dopaminergic neurons in the substantia nigra. In PD, approximately 60-70% of nigrostriatal neurons are degenerated and 80% of content of the striatal dopamine is reduced before the diagnosis can be established according to widely accepted clinical diagnostic criteria. This condition describes a stage of disease called "prodromal", where non-motor symptoms, such as olfactory dysfunction, constipation, rapid eye movement behaviour disorder, depression, precede motor sign of PD. Detection of prodromal phase of PD is becoming an important goal for determining the prognosis and choosing a suitable treatment strategy. In this review, we present some non-invasive instrumental approaches that could be useful to identify patients in the prodromal phase of PD or in an early clinical phase, when the first motor symptoms begin to be apparent. Conventional magnetic resonance imaging (MRI) and advanced MRI techniques, such as magnetic resonance spectroscopy imaging, diffusion-weighted and diffusion tensor imaging and functional MRI, are useful to differentiate early PD with initial motor symptoms from atypical parkinsonian disorders, thus, making easier early diagnosis. Functional MRI and diffusion tensor imaging techniques can show abnormalities in the olfactory system in prodromal PD.

  13. Clinical diagnosis and management in early Huntington's disease: a review

    Directory of Open Access Journals (Sweden)

    Schiefer J

    2015-03-01

    Full Text Available Johannes Schiefer,1,* Cornelius J Werner,1,* Kathrin Reetz1,2 1Euregional Huntington Center, 2Jülich Aachen Research Alliance (JARA – Translational Brain Medicine, Department of Neurology, RWTH Aachen University, Aachen, Germany *These authors contributed equally to this work Abstract: This review focuses on clinical diagnosis and both pharmacological and nonpharmacological therapeutic options in early stages of the autosomal dominant inherited neurodegenerative Huntington's disease (HD. The available literature has been reviewed for motor, cognitive, and psychiatric alterations, which are the three major symptom domains of this devastating progressive disease. From a clinical point of view, one has to be aware that the HD phenotype can vary highly across individuals and during the course of the disease. Also, symptoms in juvenile HD can differ substantially from those with adult-onset of HD. Although there is no cure of HD and management is limited, motor and psychiatric symptoms often respond to pharmacotherapy, and nonpharmacological approaches as well as supportive care are essential. International treatment recommendations based on study results, critical statements, and expert opinions have been included. This review is restricted to symptomatic and supportive approaches since all attempts to establish a cure for the disease or modifying therapies have failed so far. Keywords: Neurodegeneration, clinical picture, early symptoms, therapy, treatment

  14. Salivaomics - A promising future in early diagnosis of dental diseases

    OpenAIRE

    Suneetha Koneru; Rambabu Tanikonda

    2014-01-01

    Human saliva plays an important role in the health of the oral cavity and of the body as a whole. Salivary diagnostics is a dynamic and emerging field in the diagnosis of oral and systemic diseases. Saliva reflects the physiologic state of the body, including emotional, endocrinal, nutritional, and metabolic variations. The collection of saliva samples is noninvasive, safe, and inexpensive. Traditional clinical criteria are insufficient for determining sites of active disease, for monitoring ...

  15. To Know or Not to Know: Ethical Issues Related to Early Diagnosis of Alzheimer's Disease

    Directory of Open Access Journals (Sweden)

    Niklas Mattsson

    2010-01-01

    Full Text Available In Alzheimer's disease (AD, pathological processes start in the brain long before clinical dementia. Biomarkers reflecting brain alterations may therefore indicate disease at an early stage, enabling early diagnosis. This raises several ethical questions and the potential benefits of early diagnosis must be weighted against possible disadvantages. Currently, there are few strong arguments favouring early diagnosis, due to the lack of disease modifying therapy. Also, available diagnostic methods risk erroneous classifications, with potentially grave consequences. However, a possible benefit of early diagnosis even without disease modifying therapy is that it may enable early decision making when patients still have full decision competence, avoiding problems of hypothetical consents. It may also help identifying patients with cognitive dysfunction secondary to other diseases that may be responsive to treatment already today.

  16. A possible new diagnostic biomarker in early diagnosis of Alzheimer's disease

    DEFF Research Database (Denmark)

    Kork, Felix; Holthues, Jan; Hellweg, Rainer;

    2009-01-01

    Early diagnosis in patients with Alzheimer's disease (AD) is of great importance since only a sufficient treatment in early stages of this disease helps to keep patients in an autonomous state for as long as possible. Until now, there is no single diagnostic biomarker for AD derived from material...

  17. [Systemic diseases--the significance of early diagnosis exemplified by systemic lupus erythematosus and Wegener's granulomatosis].

    Science.gov (United States)

    Türk, H

    1993-12-01

    New therapeutic modalities have shown remarkable advances in the fields of systemic lupus erythematosus and Wegener's granulomatosis. For an optimal clinical outcome therapy has to be started early and must be adapted to disease activity. Concerning these two points early diagnosis is essential. This aim can be reached by a detailed evaluation of the patient's history by focusing on early symptoms and on typical clinical constellations, taking into account that both diseases show a great variability and sometimes even an insidious course. Immunological tests, capillary microscopy, echocardiography and computed tomography can be very helpful in the diagnosis of these diseases.

  18. MPS I: Early diagnosis, and treatment of bone disease

    NARCIS (Netherlands)

    Kingma, S.D.K.

    2015-01-01

    Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease (LSD) characterized by deficient degradation and subsequent accumulation of glycosaminoglycans (GAGs). Patients present with a spectrum of symptoms, including progressive mental retardation and bone disease. To optimize outcome, ear

  19. MPS I: Early diagnosis, and treatment of bone disease

    NARCIS (Netherlands)

    Kingma, S.D.K.

    2015-01-01

    Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease (LSD) characterized by deficient degradation and subsequent accumulation of glycosaminoglycans (GAGs). Patients present with a spectrum of symptoms, including progressive mental retardation and bone disease. To optimize outcome, ear

  20. Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm.

    Science.gov (United States)

    Di Rocco, Maja; Andria, Generoso; Deodato, Federica; Giona, Fiorina; Micalizzi, Concetta; Pession, Andrea

    2014-11-01

    Gaucher disease (GD) is caused by an enzyme deficiency that leads to the accumulation of glycolipids in various organs. Although the signs and symptoms of GD emerge in childhood in the majority of patients, the disease often remains unrecognized for many years with delay of benefits of therapy or development of irreversible complications. Based on published data and data from the International Collaborative Gaucher Group Registry, an algorithm has been drafted for early diagnosis of GD in pediatric patients. It will help hematologists in promoting a timely diagnosis and early access to therapy for pediatric patients with GD.

  1. [Bioethical reflections on ill-considered care due to an early diagnosis of Alzheimer disease].

    Science.gov (United States)

    Buxó, M Jesús; Casado, María

    2014-01-01

    Early diagnosis of Alzheimer disease raises important bioethical issues. In the interval between early disease detection and symptom onset, there is a time in which the patient's autonomy, privacy, and dignity may be undermined by certain healthcare measures or by family care and support. These measures may eventually turn patients into an object of care, preventing them from accepting the disease, developing an identity, and rearranging their living spaces. Every effort should be made to ensure that care does not become compassionate harassment or an invasive act, annulling the patient's autonomy, identity, and self-determination.

  2. Early diagnosis of complex diseases by molecular biomarkers, network biomarkers, and dynamical network biomarkers.

    Science.gov (United States)

    Liu, Rui; Wang, Xiangdong; Aihara, Kazuyuki; Chen, Luonan

    2014-05-01

    Many studies have been carried out for early diagnosis of complex diseases by finding accurate and robust biomarkers specific to respective diseases. In particular, recent rapid advance of high-throughput technologies provides unprecedented rich information to characterize various disease genotypes and phenotypes in a global and also dynamical manner, which significantly accelerates the study of biomarkers from both theoretical and clinical perspectives. Traditionally, molecular biomarkers that distinguish disease samples from normal samples are widely adopted in clinical practices due to their ease of data measurement. However, many of them suffer from low coverage and high false-positive rates or high false-negative rates, which seriously limit their further clinical applications. To overcome those difficulties, network biomarkers (or module biomarkers) attract much attention and also achieve better performance because a network (or subnetwork) is considered to be a more robust form to characterize diseases than individual molecules. But, both molecular biomarkers and network biomarkers mainly distinguish disease samples from normal samples, and they generally cannot ensure to identify predisease samples due to their static nature, thereby lacking ability to early diagnosis. Based on nonlinear dynamical theory and complex network theory, a new concept of dynamical network biomarkers (DNBs, or a dynamical network of biomarkers) has been developed, which is different from traditional static approaches, and the DNB is able to distinguish a predisease state from normal and disease states by even a small number of samples, and therefore has great potential to achieve "real" early diagnosis of complex diseases. In this paper, we comprehensively review the recent advances and developments on molecular biomarkers, network biomarkers, and DNBs in particular, focusing on the biomarkers for early diagnosis of complex diseases considering a small number of samples and high

  3. A Case Report of Probable Sporadic Creutzfeldt-Jakob Disease: How to Approach Early Diagnosis?

    Science.gov (United States)

    Tan, Bowei; Morales Mangual, Carlos; Mahmud, Iftekhar; Tongo, Nosakhare D; Mararenko, Larisa; Kay, Arthur

    2017-05-30

    Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare and fatal spongiform encephalopathy characterized by rapidly progressive dementia and myoclonus. The rarity of this disease and varied initial symptoms make the early diagnosis fairly challenging. Here, we present a case initially admitted for confusion and bizarre behaviors. She had acute deterioration of mental status, akinetic mutism, and myoclonus jerks four weeks later. Cerebrospinal fluid (CSF) analysis was positive for protein 14-3-3. Brain magnetic resonance imaging (MRI) showed hyperintensities in the bilateral cortex, basal ganglia, and thalami in diffusion-weighted imaging (DWI). Electroencephalogram (EEG) showed bihemispheric periodic lateralizing epileptiform discharges. The probable diagnosis of sCJD was reached based on the clinical features, characteristic findings in her MRI, the EEG, and a positive 14-3-3 CSF assay. The literature was also reviewed for early diagnosis of sCJD.

  4. Early Diagnosis of Rare Diseases with a Focus on Pulmonary Arterial Hypertension: A Narrative Review

    OpenAIRE

    Bonaguro, Russell

    2015-01-01

    Health outcomes for rare diseases can be greatly affected by timely diagnosis.This paper presents a narrative review of current literature on rare diseases, with a focuson Pulmonary Arterial Hypertension (PAH), to identify needs for early diagnosisinitiatives. The review assessed: what needs to be done, what is currently being done,and what are the approaches or change theories that underlie these initiatives.Literature from online key-word searches included academic articles pertaining todia...

  5. A Case Report of Probable Sporadic Creutzfeldt-Jakob Disease: How to Approach Early Diagnosis?

    OpenAIRE

    Tan, Bowei; Morales Mangual, Carlos; Mahmud, Iftekhar; Tongo, Nosakhare D; Mararenko, Larisa; Kay, Arthur

    2017-01-01

    Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare and fatal spongiform encephalopathy characterized by rapidly progressive dementia and myoclonus. The rarity of this disease and varied initial symptoms make the early diagnosis fairly challenging. Here, we present?a case initially admitted for confusion and bizarre behaviors. She had acute deterioration of mental status, akinetic mutism, and myoclonus jerks four weeks later. Cerebrospinal fluid (CSF) analysis was positive for protein 14-3-3....

  6. A new Brief computerized cognitive screening battery (CompCogs for early diagnosis of Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Helenice Charchat Fichman

    Full Text Available Abstract Screening tests for early diagnosis of dementia are of great clinical relevance. The ideal test set must be brief and reliable, and should probe cognitive components impaired in Alzheimer's disease (AD. Objectives: To develop a new Computerized Cognitive Screening test (CompCogs, and to investigate its validity for the early diagnosis of AD, and evaluate its heuristic value in understanding the processing of information in AD. Methods: The computerized neuropsychological performance battery, originally including six tests, was applied in forty seven patients with probable mild AD and 97 controls matched for age and education. This computerized neuropsychological test battery, developed with MEL Professional, allows control of timing and order of stimuli presentation, as well as recording of response type and latency. A brief-screening version, CompCogs, was selected using the most discriminative neuropsychological test variables derived from logistic regression analysis. Full battery administration lasted about 40 minutes, while the CompCogs took only 15 minutes. Results: CompCogs included the Face test (correct response and Word and Forms with Short term memory tests (reaction time. CompCogs presented 91.8% sensitivity and 93.6% specificity for the diagnosis of AD using ROC analyses of AD diagnosis probability derived by logistic regression. Conclusions: CompCogs showed high validity for AD early diagnosis and, therefore, may be a useful alternative screening instrument.

  7. The role of neuroimaging in the early diagnosis and evaluation of Parkinson's disease.

    Science.gov (United States)

    Seibyl, J; Jennings, D; Tabamo, R; Marek, K

    2005-10-01

    The development of imaging biomarkers which target specific sites in the brain represents a significant advance in neurodegenerative diseases and Parkinson's disease with the promise of new and improved approaches for the early and accurate diagnosis of disease as well as novel ways to monitor patients and assess treatment. The 3 major applications of imaging may play a role in Parkinson's disease include: 1) the use of neuroimaging as a biomarker of disease in order to improve the accuracy, timeliness, and reliability of diagnosis; 2) objective monitoring of the progression of disease to provide a molecular phenotype of Parkinson's disease which may illuminate some of the sources of clinical variability; 3) the evaluation of so-called ''disease-modifying'' treatments designed to retard the progression of disease by interfering with pathways thought implicated in the ongoing neuronal loss or replace dopamine-producing cells. Each of these areas has shown a numbers of critical clinical investigations which have better defined the utility of the imaging tools to these tasks. Nonetheless, current unresolved issues around the clinical role of neuroimaging in monitoring patients over time and validation of quantitative imaging measures of dopaminergic function are immediate issues for the field and the subject of current research efforts and the extension of the lessons learned in Parkinson's to other neurodegenerative diseases including Alzheimer's dementia.

  8. Neuroimaging markers for the prediction and early diagnosis of Alzheimer’s disease dementia

    Science.gov (United States)

    Ewers, Michael; Sperling, Reisa A.; Klunk, William E.; Weiner, Michael W.; Hampel, Harald

    2011-01-01

    Alzheimer’s disease (AD) is a progressive age-related neurodegenerative disease. At the time of clinical manifestation of dementia, significant irreversible brain damage is already present, rendering the diagnosis of AD at early stages of the disease an urgent prerequisite for therapeutic treatment to halt, or at least slow, disease progression. In this Review, we discuss various neuroimaging measures that are proving to have potential value as biomarkers of AD pathology for the detection and prediction of AD before the onset of dementia. Recent studies that have identified AD-like structural and functional brain changes in elderly people who are cognitively within the normal range or who have mild cognitive impairment (MCI) are discussed. A dynamic sequence model of changes that occur in neuroimaging markers during the different disease stages is presented and the predictive value of multimodal neuroimaging for AD dementia is considered. PMID:21696834

  9. The Usefulness of Biological and Neuroimaging Markers for the Diagnosis of Early-Onset Alzheimer's Disease

    Directory of Open Access Journals (Sweden)

    Alessandro Padovani

    2011-01-01

    Full Text Available The recent proposed criteria for Alzheimer's Disease (AD have strongly claimed the usefulness of biological and neuroimaging markers for early identification AD. Cerebrospinal fluid (CSF Tau/Abeta ratio, hippocampal atrophy, posterior cingulate, and neocortical associative area hypometabolism, or amyloid burden evaluated by PiB compound, held the premises to increase diagnostic accuracy in the preclinical disease stages. Despite many efforts to identify subjects at risk of developing AD, less attention has been paid to presenile AD diagnosis. A few data are already available in early onset AD, mainly obtained in cases of monogenic disorder. In this paper, we discuss the current literature on the role of biological and neuroimaging markers in presenile AD.

  10. Early diagnosis of rheumatic diseases: an evaluation of the present situation and proposed changes.

    Science.gov (United States)

    Kwiatkowska, Brygida; Raciborski, Filip; Kłak, Anna; Maślińska, Maria; Gryglewicz, Jerzy

    2015-01-01

    Musculoskeletal pain is a very common complaint, affecting 30-40% of the European population. It is estimated that approximately 400,000 Poles suffer from inflammatory rheumatic diseases, such as rheumatoid arthritis, ankylosing spondylitis and psoriatic arthritis, and a vast majority of those affected are working-age individuals. Patients with suspected arthritis require prompt diagnosis and treatment, as any delays may result in irreversible joint destruction and disability. Currently in Poland, the lag time between the onset of symptoms and diagnosis is, on average, as much as 35 weeks. In this paper, we review the current state of specialist rheumatology care in Poland and propose a reorganised care model that includes early diagnosis of inflammatory arthritis. The main goal we wish to achieve with our reorganised model is to enhance access to outpatient specialist rheumatology care for patients with suspected arthritis. We believe that our model should make it possible to considerably reduce the lag time between GP referral and the diagnosis and treatment by a rheumatologist to as little as 3 to 4 weeks. This article provides a proposal of changes that would achieve this goal and is a summary of the report published by the Institute of Rheumatology in September 2014.

  11. Diagnosis of Pompe disease

    DEFF Research Database (Denmark)

    Vissing, John; Lukacs, Zoltan; Straub, Volker

    2013-01-01

    of the methods used in the diagnosis and differential diagnosis of late-onset Pompe disease. Muscle biopsy is commonly used as an early diagnostic tool in the evaluation of muscle disease. However, experience has shown that relying solely on visualizing a periodic acid-Schiff-positive vacuolar myopathy...... will improve patient outcomes as care standards including enzyme replacement therapy can be applied and complications can be anticipated. Increased awareness of the clinical phenotype of Pompe disease is therefore warranted to expedite diagnostic screening for this condition with blood-based enzymatic assays.......The diagnosis of Pompe disease (acid maltase deficiency, glycogen storage disease type II) in children and adults can be challenging because of the heterogeneous clinical presentation and considerable overlap of signs and symptoms found in other neuromuscular diseases. This review evaluates some...

  12. Differential sialylation of serpin A1 in the early diagnosis of Parkinson's disease dementia.

    Directory of Open Access Journals (Sweden)

    Sarah Jesse

    Full Text Available The prevalence of Parkinson's disease (PD increases with age. Up to 50% of PD show cognitive decline in terms of a mild cognitive impairment already in early stages that predict the development of dementia, which can occur in up to 80% of PD patients over the long term, called Parkinson's disease dementia (PDD. So far, diagnosis of PD/PDD is made according to clinical and neuropsychological examinations while laboratory data is only used for exclusion of other diseases. The aim of this study was the identification of possible biomarkers in cerebrospinal fluid (CSF of PD, PDD and controls (CON which predict the development of dementia in PD. For this, a proteomic approach optimized for CSF was performed using 18 clinically well characterized patients in a first step with subsequent validation using 84 patients. Here, we detected differentially sialylated isoforms of Serpin A1 as marker for differentiation of PD versus PDD in CSF. Performing 2D-immunoblots, all PDD patients could be identified correctly (sensitivity 100%. Ten out of 24 PD patients showed Serpin A1 isoforms in a similar pattern like PDD, indicating a specificity of 58% for the test-procedure. In control samples, no additional isoform was detected. On the basis of these results, we conclude that differentially sialylated products of Serpin A1 are an interesting biomarker to indicate the development of a dementia during the course of PD.

  13. Efficient mining of association rules for the early diagnosis of Alzheimer's disease.

    Science.gov (United States)

    Chaves, R; Górriz, J M; Ramírez, J; Illán, I A; Salas-Gonzalez, D; Gómez-Río, M

    2011-09-21

    In this paper, a novel technique based on association rules (ARs) is presented in order to find relations among activated brain areas in single photon emission computed tomography (SPECT) imaging. In this sense, the aim of this work is to discover associations among attributes which characterize the perfusion patterns of normal subjects and to make use of them for the early diagnosis of Alzheimer's disease (AD). Firstly, voxel-as-feature-based activation estimation methods are used to find the tridimensional activated brain regions of interest (ROIs) for each patient. These ROIs serve as input to secondly mine ARs with a minimum support and confidence among activation blocks by using a set of controls. In this context, support and confidence measures are related to the proportion of functional areas which are singularly and mutually activated across the brain. Finally, we perform image classification by comparing the number of ARs verified by each subject under test to a given threshold that depends on the number of previously mined rules. Several classification experiments were carried out in order to evaluate the proposed methods using a SPECT database that consists of 41 controls (NOR) and 56 AD patients labeled by trained physicians. The proposed methods were validated by means of the leave-one-out cross validation strategy, yielding up to 94.87% classification accuracy, thus outperforming recent developed methods for computer aided diagnosis of AD.

  14. Clinical Evaluation of Brain Perfusion SPECT with Brodmann Areas Mapping in Early Diagnosis of Alzheimer's Disease.

    Science.gov (United States)

    Valotassiou, Varvara; Papatriantafyllou, John; Sifakis, Nikolaos; Tzavara, Chara; Tsougos, Ioannis; Psimadas, Dimitrios; Fezoulidis, Ioannis; Kapsalaki, Eftychia; Hadjigeorgiou, George; Georgoulias, Panagiotis

    2015-01-01

    Early diagnosis of Alzheimer's disease (AD) based on clinical criteria alone may be problematic, while current and future treatments should be administered earlier in order to be more effective. Thus, various disease biomarkers could be used for early detection of AD. We evaluated brain perfusion with 99mTc-HMPAO single photon emission computed tomography (SPECT) and Brodmann areas (BAs) mapping in mild AD using an automated software (NeuroGam) for the semi-quantitative evaluation of perfusion in BAs and the comparison with the software's normal database. We studied 34 consecutive patients with mild AD: 9 men, 25 women, mean age 70.9 ± 8.1 years, mean Mini-Mental State Examination 22.6 ± 2.5. BAs 25L, 25R, 38L, 38R, 28L, 28R, 36L, and 36R had the lower mean perfusion values, while BAs 31L, 31R, 19R, 18L, 18R, 17L, and 17R had the higher mean values. Compared with healthy subjects of the same age, perfusion values in BAs 25L, 25R, 28R, 28L, 36L, and 36R had the greatest deviations from the healthy sample, while the lowest deviations were found in BAs 32L, 32R, 19R, 24L, 17L, 17R, 18L, and 18R. A percentage of ≥94% of patients had perfusion values more than -2SDs below the mean of healthy subjects in BAs 38R, 38L, 36L, 36R, 23L, 23R, 22L, 44L, 28L, 28R, 25L, and 25R. The corresponding proportion was less than 38% for BAs 11L, 19R, 32L, 32R, 18L, 18R, 24L, and 17R. In conclusion, brain SPECT studies with automated perfusion mapping could be useful as an ancillary tool in daily practice, revealing perfusion impairments in early AD.

  15. A hybrid feature selection approach for the early diagnosis of Alzheimer’s disease

    Science.gov (United States)

    Gallego-Jutglà, Esteve; Solé-Casals, Jordi; Vialatte, François-Benoît; Elgendi, Mohamed; Cichocki, Andrzej; Dauwels, Justin

    2015-02-01

    Objective. Recently, significant advances have been made in the early diagnosis of Alzheimer’s disease (AD) from electroencephalography (EEG). However, choosing suitable measures is a challenging task. Among other measures, frequency relative power (RP) and loss of complexity have been used with promising results. In the present study we investigate the early diagnosis of AD using synchrony measures and frequency RP on EEG signals, examining the changes found in different frequency ranges. Approach. We first explore the use of a single feature for computing the classification rate (CR), looking for the best frequency range. Then, we present a multiple feature classification system that outperforms all previous results using a feature selection strategy. These two approaches are tested in two different databases, one containing mild cognitive impairment (MCI) and healthy subjects (patients age: 71.9 ± 10.2, healthy subjects age: 71.7 ± 8.3), and the other containing Mild AD and healthy subjects (patients age: 77.6 ± 10.0 healthy subjects age: 69.4 ± 11.5). Main results. Using a single feature to compute CRs we achieve a performance of 78.33% for the MCI data set and of 97.56% for Mild AD. Results are clearly improved using the multiple feature classification, where a CR of 95% is found for the MCI data set using 11 features, and 100% for the Mild AD data set using four features. Significance. The new features selection method described in this work may be a reliable tool that could help to design a realistic system that does not require prior knowledge of a patient's status. With that aim, we explore the standardization of features for MCI and Mild AD data sets with promising results.

  16. Ensembles of Deep Learning Architectures for the Early Diagnosis of the Alzheimer's Disease.

    Science.gov (United States)

    Ortiz, Andrés; Munilla, Jorge; Górriz, Juan M; Ramírez, Javier

    2016-11-01

    Computer Aided Diagnosis (CAD) constitutes an important tool for the early diagnosis of Alzheimer's Disease (AD), which, in turn, allows the application of treatments that can be simpler and more likely to be effective. This paper explores the construction of classification methods based on deep learning architectures applied on brain regions defined by the Automated Anatomical Labeling (AAL). Gray Matter (GM) images from each brain area have been split into 3D patches according to the regions defined by the AAL atlas and these patches are used to train different deep belief networks. An ensemble of deep belief networks is then composed where the final prediction is determined by a voting scheme. Two deep learning based structures and four different voting schemes are implemented and compared, giving as a result a potent classification architecture where discriminative features are computed in an unsupervised fashion. The resulting method has been evaluated using a large dataset from the Alzheimer's disease Neuroimaging Initiative (ADNI). Classification results assessed by cross-validation prove that the proposed method is not only valid for differentiate between controls (NC) and AD images, but it also provides good performances when tested for the more challenging case of classifying Mild Cognitive Impairment (MCI) Subjects. In particular, the classification architecture provides accuracy values up to 0.90 and AUC of 0.95 for NC/AD classification, 0.84 and AUC of 0.91 for stable MCI/AD classification and 0.83 and AUC of 0.95 for NC/MCI converters classification.

  17. Non-invasive screening for early Alzheimer’s disease diagnosis by a sensitively immunomagnetic biosensor

    Science.gov (United States)

    Li, Shan-Shan; Lin, Chih-Wen; Wei, Kuo-Chen; Huang, Chiung-Yin; Hsu, Po-Hung; Liu, Hao-Li; Lu, Yu-Jen; Lin, Sheng-Chi; Yang, Hung-Wei; Ma, Chen-Chi M.

    2016-04-01

    Amyloid-beta peptide 1–42 (Aβ42) is considered as a reliable biomarker for the early diagnosis of Alzheimer’s disease (AD). Thus, it is urgent to develop a simple and efficient method for the detection of Aβ42. In this work, a reusable biosensor based on magnetic nitrogen-doped graphene (MNG) modified Au electrode for the detection of Aβ42 has been developed. The antibodies of Aβ 1–28 (Aβab) are used as the specific biorecognition element for Aβ42 that were conjugated on the surface of MNG. In the presence of magnetic nanoparticles on MNG, the electrode coating material, the biosensor can be quickly constructed, without requiring an electrode drying process, which reduce the analysis time and is convenient for proceeding to detection. The reusable biosensor with good reproducibility and stability was linear within the range from 5 pg mL‑1 to 800 pg mL‑1, covering the cut-off level of Aβ42 and a detection limit of 5 pg mL‑1 had been achieved. Furthermore, the fabricated biosensor for Aβ42 detection not only improves the detection performance but also reduces the cost and shortens the response time, demonstrating its potential in diagnosing applications.

  18. Plasma-Enabled Carbon Nanostructures for Early Diagnosis of Neurodegenerative Diseases

    Directory of Open Access Journals (Sweden)

    Shafique Pineda

    2014-06-01

    Full Text Available Carbon nanostructures (CNs are amongst the most promising biorecognition nanomaterials due to their unprecedented optical, electrical and structural properties. As such, CNs may be harnessed to tackle the detrimental public health and socio-economic adversities associated with neurodegenerative diseases (NDs. In particular, CNs may be tailored for a specific determination of biomarkers indicative of NDs. However, the realization of such a biosensor represents a significant technological challenge in the uniform fabrication of CNs with outstanding qualities in order to facilitate a highly-sensitive detection of biomarkers suspended in complex biological environments. Notably, the versatility of plasma-based techniques for the synthesis and surface modification of CNs may be embraced to optimize the biorecognition performance and capabilities. This review surveys the recent advances in CN-based biosensors, and highlights the benefits of plasma-processing techniques to enable, enhance, and tailor the performance and optimize the fabrication of CNs, towards the construction of biosensors with unparalleled performance for the early diagnosis of NDs, via a plethora of energy-efficient, environmentally-benign, and inexpensive approaches.

  19. Laser Raman detection of platelet as a non-invasive approach for early and differential diagnosis of Alzheimer's disease

    Science.gov (United States)

    Chen, P.; Tian, Q.; Baek, S. J.; Shang, X. L.; Park, A.; Liu, Z. C.; Yao, X. Q.; Wang, J. Z.; Wang, X. H.; Cheng, Y.; Peng, J.; Shen, A. G.; Hu, J. M.

    2011-07-01

    Early and differential diagnosis of Alzheimer's disease (AD) is a problem that puzzled many doctors. Reliable markers in easy-assembling samples are of considerable clinical diagnostic value. In this work, laser Raman spectroscopy (LRS) was developed a new method that potentially allows early and differential diagnosis of AD from the platelet sample. Raman spectra of platelets isolated from different ages of AD transgenic mice and non-transgenic controls were collected and analyzed. Multilayer perceptron networks (MLP) classification method was used to classify spectra and establish the diagnostic models. For differential diagnosis, spectra of platelets isolated from AD, Parkinson's disease (PD) and vascular dementia (VD) mice were also discriminated. Two notable spectral differences at 740 and 1654 cm-1 were revealed in the mean spectrum of platelets isolated from AD transgenic mice and the controls. MLP displayed a powerful ability in the classifying of early, advanced AD and the control group, and in differential diagnosis of PD and advanced AD, as well as VD and advanced AD. The results suggest that platelet detecting by LRS coupled with MLP analysis appears to be an easy and accurate method for early and differential diagnosis of AD. This technique could be rapidly promoted from laboratory to the hospital.

  20. Herpes Simplex Virus Hepatitis: A Presentation of Multi-Institutional Cases to Promote Early Diagnosis and Management of the Disease

    Directory of Open Access Journals (Sweden)

    Ashwinee Natu

    2017-01-01

    Full Text Available Objective. To compare three cases of Herpes simplex virus (HSV hepatitis to increase early diagnosis of the disease. Case  1. A 23-year-old man with Crohn’s disease and oral HSV. HSV hepatitis was diagnosed clinically and he improved with acyclovir. Case  2. An 18-year-old G1P0 woman with transaminitis. Despite early empiric acyclovir therapy, she died due to fulminant liver failure. Case  3. A 65-year-old woman who developed transaminitis after liver transplant. Diagnosis was confirmed by biopsy and she had resolution of acute liver failure with acyclovir. Conclusion. It is imperative that clinicians be aware of patients at high risk for developing HSV hepatitis to increase timely diagnosis and prevent morbidity and fatality.

  1. Applications of a single-molecule detection in early disease diagnosis and enzymatic reaction study

    Energy Technology Data Exchange (ETDEWEB)

    Li, Jiangwei [Iowa State Univ., Ames, IA (United States)

    2008-01-01

    polyclonal detector antibody. The capture antibody was covalently immobilized on modified glass slides. The detector antibody was conjugated with AF532 labeled secondary antibody prior to being used as probe for the antigen. Imaging was performed with a TIRF system. This technique is demonstrated for detecting HIV-1 p24 antigen down to 0.1 pg/mL with a dynamic range of over 4 orders of magnitude. A Langmuir isotherm fit the molecule count dependence on the target concentration. The results also showed that neither sensitivity nor dynamic range was affected by the biological matrix. SMISA is therefore a promising approach for the early diagnosis of virus-induced diseases. Single-molecule enzymatic kinetics and enantioselectivity were monitored in real time by using TIRF microscopy. AF532 labeled poly-L-lysine (PLL) or poly-D-lysine (PDL) was covalently immobilized on a dithiobis (succinimidyl undecanoate) self-assembled monolayer (DSU SAM). Chain shortening due to enzymatic hydrolysis resulted in the reduction of the individual fluorescence intensities. A broad distribution was obtained when 100 single-molecule half-lives were analyzed. However, the detailed hydrolysis process involved also a long-lived component and an induction period that varied significantly among molecules. Charge and steric heterogeneity at the surface are responsible for these features.

  2. ORGANIZATION OF EARLY DIAGNOSIS OF ONCOUROLOGICAL DISEASES IN THE SVERDLOVSK REGION

    Directory of Open Access Journals (Sweden)

    V. N. Zhuravlev

    2014-07-01

    Full Text Available A major focus of this paper is on the organization of specialized urological treatment, by taking into account the Governor's program “Male urological health” in the Sverdlovsk Region. It also shows the great importance of financial support for early diagnosis, timely effective treatment, clinical examination, and better quality of life in the male population of the Sverdlovsk Region. 

  3. Application of nanophotosensitizers (aluminum phthalocyanine nanoparticles) for early diagnosis and prevention of inflammatory diseases

    Science.gov (United States)

    Kuznetsova, J. O.; Makarov, V. I.

    2016-08-01

    This paper deals with a possibility of new types of photosensitizers application - Aluminum Phthalocyanine nanoparticles (nAlPc) in clinical practice for diagnosis, prevention and therapy of inflammatory diseases in dentistry and traumatology. It was detected that the aluminum phthalocyanine (AlPc) fluoresces in the nanoparticle form in the presence of pathologic microflora or inflammation process. It will make possible to detect the local accumulation of pathological microflora on the enamel surface and also for diagnostics and treatment of inflammatory diseases. Experimental studies of interaction of NP-AlPc with tooth enamel and with biological joint tissue at arthrosis are presented.

  4. Load of challenge Marek's disease virus DNA in blood as a criterion for early diagnosis of Marek's disease tumors.

    Science.gov (United States)

    Gimeno, Isabel M; Cortes, Aneg L; Silva, R F

    2008-06-01

    Outbreaks of Marek's disease (MD) in vaccinated flocks still occur sporadically and lead to economic losses. Unfortunately, adequate methods to predict MD outbreaks are lacking. In the present study, we have evaluated whether high load of challenge MD virus (MDV) DNA in peripheral blood could aid in the early diagnosis of MD and in monitoring efficacy of vaccines against MD. One experiment was conducted to simulate field conditions by combining various vaccines (turkey herpesvirus [HVT] and HVT + MDV serotype 2 [SB1]) and challenge viruses (GA, Md5, and 648A). Vaccine efficacy among our experimental groups ranged from 13.3% to 94.2%. Each chicken was sampled three times during the length of the experiment (3, 5, and 15 wk postchallenge [wpc]), and gross lesions were evaluated in chickens that died and at termination of the experiment. DNA was extracted from whole blood and buffy coats from each sample, and the load of challenge MDV DNA and HVT DNA were quantified by real-time polymerase chain reaction. Chickens that developed MD by the end of the experiment had higher load of challenge MDV DNA (threshold cycle [Ct] glyceraldehyde-3-phosphate dehydrogenase [GAPDH]/Ct glycoprotein B [gB] ratios of 1.0, 1.04, and 1.05 at 3, 5, and 15 wpc, respectively) than those that did not develop MD (Ct GAPDH/Ct gB ratios of 0.7, 0.69, and 0.46 at 3, 5, and 15 wpc, respectively). However, load of HVT DNA in blood was not correlated with the development of tumors (Ct GAPDH/Ct HVT ratios from 0.04 to 0.10 in both groups). Vaccinated groups with >75% protection had statistically significant less challenge DNA virus (Ct GAPDH/Ct gB ratios of 0.76, 0.70, and 0.45 at 3, 5, and 15 wpc, respectively) than less protected groups (Ct GAPDH/Ct gB ratios of 0.92, 0.97, and 0.85 at 3, 5, and 15 wpc, respectively). No differences in the load of HVT DNA could be found between protected and nonprotected groups at any time point of the study (Ct GAPDH/Ct HVT from 0.05 to 0.09 in both groups). Our

  5. Homocysteine as a predictive biomarker in early diagnosis of renal failure susceptibility and prognostic diagnosis for end stages renal disease.

    Science.gov (United States)

    Amin, Hatem K; El-Sayed, Mohamed-I Kotb; Leheta, Ola F

    2016-09-01

    Glomerular filtration rate and/or creatinine are not accurate methods for renal failure prediction. This study tested homocysteine (Hcy) as a predictive and prognostic marker for end stage renal disease (ESRD). In total, 176 subjects were recruited and divided into: healthy normal group (108 subjects); mild-to-moderate impaired renal function group (21 patients); severe impaired renal function group (7 patients); and chronic renal failure group (40 patients) who were on regular hemodialysis. Blood samples were collected, and serum was separated for analysis of total Hcy, creatinine, high sensitive C-reactive protein (CRP), serum albumin, and calcium. Data showed that Hcy level was significantly increased from normal-to-mild impairment then significantly decreases from mild impairment until the patient reaches severe impairment while showing significant elevation in the last stage of chronic renal disease. Creatinine level was increased in all stages of kidney impairment in comparison with control. CRP level was showing significant elevation in the last stage. A significant decrease in both albumin and calcium was occurred in all stages of renal impairment. We conclude Hcy in combination with CRP, creatinine, albumin, and calcium can be used as a prognostic marker for ESRD and an early diagnostic marker for the risk of renal failure.

  6. Early diagnosis of neurodegenerative diseases - the long awaited Holy Grail and bottleneck of modern brain research - 19th HUPO BPP workshop: May 22-24, 2013, Dortmund, Germany.

    Science.gov (United States)

    Schrötter, Andreas; Magraoui, Fouzi El; Gröttrup, Bernd; Wiltfang, Jens; Heinsen, Helmut; Marcus, Katrin; Meyer, Helmut E; Grinberg, Lea T; Park, Young Mok

    2013-10-01

    The HUPO Brain Proteome Project (HUPO BPP) held its 19th workshop in Dortmund, Germany, from May 22 to 24, 2013. The focus of the spring workshop was on strategies and developments concerning early diagnosis of neurodegenerative diseases.

  7. The AIMAR recommendations for early diagnosis of chronic obstructive respiratory disease based on the WHO/GARD model*.

    Science.gov (United States)

    Nardini, Stefano; Annesi-Maesano, Isabella; Del Donno, Mario; Delucchi, Maurizio; Bettoncelli, Germano; Lamberti, Vincenzo; Patera, Carlo; Polverino, Mario; Russo, Antonio; Santoriello, Carlo; Soverina, Patrizio

    2014-01-01

    Respiratory diseases in Italy already now represent an emergency (they are the 3(rd) ranking cause of death in the world, and the 2(nd) if Lung cancer is included). In countries similar to our own, they result as the principal cause for a visit to the general practitioner (GP) and the second main cause after injury for recourse to Emergency Care. Their frequency is probably higher than estimated (given that respiratory diseases are currently underdiagnosed). The trend is towards a further increase due to epidemiologic and demographic factors (foremost amongst which are the widespread diffusion of cigarette smoking, the increasing mean age of the general population, immigration, and pollution). Within the more general problem of chronic disease care, chronic respiratory diseases (CRDs) constitute one of the four national priorities in that they represent an important burden for society in terms of mortality, invalidity, and direct healthcare costs. The strategy suggested by the World Health Organization (WHO) is an integrated approach consisting of three goals: inform about health, reduce risk exposure, improve patient care. The three goals are translated into practice in the three areas of prevention (1-primary, 2-secondary, 3-tertiary) as: 1) actions of primary (universal) prevention targeted at the general population with the aim to control the causes of disease, and actions of Predictive Medicine - again addressing the general population but aimed at measuring the individual's risk for disease insurgence; 2) actions of early diagnosis targeted at groups or - more precisely - subgroups identified as at risk; 3) continuous improvement and integration of care and rehabilitation support - destined at the greatest possible number of patients, at all stages of disease severity. In Italy, COPD care is generally still inadequate. Existing guidelines, institutional and non-institutional, are inadequately implemented: the international guidelines are not always adaptable

  8. Cost-effectiveness of magnetic resonance imaging with a new contrast agent for the early diagnosis of Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Maria Biasutti

    Full Text Available BACKGROUND: Used as contrast agents for brain magnetic resonance imaging (MRI, markers for beta-amyloid deposits might allow early diagnosis of Alzheimer's disease (AD. We evaluated the cost-effectiveness of such a diagnostic test, MRI+CLP (contrastophore-linker-pharmacophore, should it become clinically available. METHODOLOGY/PRINCIPAL FINDINGS: We compared the cost-effectiveness of MRI+CLP to that of standard diagnosis using currently available cognition tests and of standard MRI, and investigated the impact of a hypothetical treatment efficient in early AD. The primary analysis was based on the current French context for 70-year-old patients with Mild Cognitive Impairment (MCI. In alternative "screen and treat" scenarios, we analyzed the consequences of systematic screenings of over-60 individuals (either population-wide or restricted to the ApoE4 genotype population. We used a Markov model of AD progression; model parameters, as well as incurred costs and quality-of-life weights in France were taken from the literature. We performed univariate and probabilistic multivariate sensitivity analyses. The base-case preferred strategy was the standard MRI diagnosis strategy. In the primary analysis however, MRI+CLP could become the preferred strategy under a wide array of scenarios involving lower cost and/or higher sensitivity or specificity. By contrast, in the "screen and treat" analyses, the probability of MRI+CLP becoming the preferred strategy remained lower than 5%. CONCLUSIONS/SIGNIFICANCE: It is thought that anti-beta-amyloid compounds might halt the development of dementia in early stage patients. This study suggests that, even should such treatments become available, systematically screening the over-60 population for AD would only become cost-effective with highly specific tests able to diagnose early stages of the disease. However, offering a new diagnostic test based on beta-amyloid markers to elderly patients with MCI might prove

  9. Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician

    Directory of Open Access Journals (Sweden)

    Hanna Alobaidy

    2015-01-01

    Full Text Available Niemann-Pick disease (NP-C is a lysosomal storage disease in which impaired intracellular lipid transport leads to accumulation of cholesterol and glycosphingolipids in various neurovisceral tissues. It is an autosomal recessive disorder, caused by mutations in the NPC1 or NPC2 genes. The clinical spectrum is grouped by the age of onset and onset of neurological manifestation: pre/perinatal; early infantile; late infantile; and juvenile periods. The NP-C Suspicion Index (SI screening tool was developed to identify suspected patients with this disease. It is especially good at recognizing the disease in patients older than four years of age. Biochemical tests involving genetic markers and Filipin staining of skin fibroblast are being employed to assist diagnosis. Therapy is mostly supportive and since 2009, the first specific therapy approved for use was Miglustat (Zavesca aimed at stabilizing the rate of progression of neurological manifestation. The prognosis correlates with age at onset of neurological signs; patients with early onset form progress faster. The NP-C disease has heterogeneous neurovisceral manifestations. A SI is a screening tool that helps in diagnostic process. Filipin staining test is a specific biomarker diagnostic test. Miglustat is the first disease-specific therapy.

  10. Early Diagnosis and Management of Acute Vertigo from Vestibular Migraine and Ménière's Disease.

    Science.gov (United States)

    Seemungal, Barry; Kaski, Diego; Lopez-Escamez, Jose Antonio

    2015-08-01

    Vestibular migraine is the most common cause of acute episodic vestibular symptoms after benign paroxysmal positional vertigo. In contrast, Ménière's disease is an uncommon disorder. For both conditions, early and accurate diagnosis (or its exclusion) enables the correct management of patients with acute episodic vestibular symptoms. Long-term management of migraine requires changes in lifestyle to avoid triggers of migraine and/or prophylactic drugs if attacks become too frequent. The long-term management of Ménière's disease also involves lifestyle changes (low salt diet), medications (betahistine, steroids), and ablative therapy applied to the diseased ear (eg, intratympanic gentamicin). Copyright © 2015 Elsevier Inc. All rights reserved.

  11. Diagnosis of Parasitic Diseases

    Science.gov (United States)

    ... Laboratory Diagnostic Assistance [DPDx] Parasites Home Diagnosis of Parasitic Diseases Recommend on Facebook Tweet Share Compartir On this ... the United States cannot diagnose parasites? How are parasitic diseases diagnosed? Many kinds of lab tests are available ...

  12. Thrombocytopenic purpura: Importance of early diagnosis

    OpenAIRE

    Linklater, David M.; Voth, Arnold

    1996-01-01

    Thrombotic thrombocytopenic purpura and hemolytic uremic syndrome are important diagnostic considerations for family physicians because therapy can be lifesaving. Treatment with plasmapheresis is usually successful. Therefore, early diagnosis is essential. A patient with microangiopathic hemolytic anemia is described. Diagnosis of Hodgkin's disease was confirmed after the initial episode. The case highlights the important role of family physicians in the diagnosis and treatment of uncommon he...

  13. Kernel-based Joint Feature Selection and Max-Margin Classification for Early Diagnosis of Parkinson’s Disease

    Science.gov (United States)

    Adeli, Ehsan; Wu, Guorong; Saghafi, Behrouz; An, Le; Shi, Feng; Shen, Dinggang

    2017-01-01

    Feature selection methods usually select the most compact and relevant set of features based on their contribution to a linear regression model. Thus, these features might not be the best for a non-linear classifier. This is especially crucial for the tasks, in which the performance is heavily dependent on the feature selection techniques, like the diagnosis of neurodegenerative diseases. Parkinson’s disease (PD) is one of the most common neurodegenerative disorders, which progresses slowly while affects the quality of life dramatically. In this paper, we use the data acquired from multi-modal neuroimaging data to diagnose PD by investigating the brain regions, known to be affected at the early stages. We propose a joint kernel-based feature selection and classification framework. Unlike conventional feature selection techniques that select features based on their performance in the original input feature space, we select features that best benefit the classification scheme in the kernel space. We further propose kernel functions, specifically designed for our non-negative feature types. We use MRI and SPECT data of 538 subjects from the PPMI database, and obtain a diagnosis accuracy of 97.5%, which outperforms all baseline and state-of-the-art methods.

  14. Kernel-based Joint Feature Selection and Max-Margin Classification for Early Diagnosis of Parkinson’s Disease

    Science.gov (United States)

    Adeli, Ehsan; Wu, Guorong; Saghafi, Behrouz; An, Le; Shi, Feng; Shen, Dinggang

    2017-01-01

    Feature selection methods usually select the most compact and relevant set of features based on their contribution to a linear regression model. Thus, these features might not be the best for a non-linear classifier. This is especially crucial for the tasks, in which the performance is heavily dependent on the feature selection techniques, like the diagnosis of neurodegenerative diseases. Parkinson’s disease (PD) is one of the most common neurodegenerative disorders, which progresses slowly while affects the quality of life dramatically. In this paper, we use the data acquired from multi-modal neuroimaging data to diagnose PD by investigating the brain regions, known to be affected at the early stages. We propose a joint kernel-based feature selection and classification framework. Unlike conventional feature selection techniques that select features based on their performance in the original input feature space, we select features that best benefit the classification scheme in the kernel space. We further propose kernel functions, specifically designed for our non-negative feature types. We use MRI and SPECT data of 538 subjects from the PPMI database, and obtain a diagnosis accuracy of 97.5%, which outperforms all baseline and state-of-the-art methods. PMID:28120883

  15. The PredictAD project: development of novel biomarkers and analysis software for early diagnosis of the Alzheimer's disease.

    Science.gov (United States)

    Antila, Kari; Lötjönen, Jyrki; Thurfjell, Lennart; Laine, Jarmo; Massimini, Marcello; Rueckert, Daniel; Zubarev, Roman A; Orešič, Matej; van Gils, Mark; Mattila, Jussi; Hviid Simonsen, Anja; Waldemar, Gunhild; Soininen, Hilkka

    2013-04-01

    Alzheimer's disease (AD) is the most common cause of dementia affecting 36 million people worldwide. As the demographic transition in the developed countries progresses towards older population, the worsening ratio of workers per retirees and the growing number of patients with age-related illnesses such as AD will challenge the current healthcare systems and national economies. For these reasons AD has been identified as a health priority, and various methods for diagnosis and many candidates for therapies are under intense research. Even though there is currently no cure for AD, its effects can be managed. Today the significance of early and precise diagnosis of AD is emphasized in order to minimize its irreversible effects on the nervous system. When new drugs and therapies enter the market it is also vital to effectively identify the right candidates to benefit from these. The main objective of the PredictAD project was to find and integrate efficient biomarkers from heterogeneous patient data to make early diagnosis and to monitor the progress of AD in a more efficient, reliable and objective manner. The project focused on discovering biomarkers from biomolecular data, electrophysiological measurements of the brain and structural, functional and molecular brain images. We also designed and built a statistical model and a framework for exploiting these biomarkers with other available patient history and background data. We were able to discover several potential novel biomarker candidates and implement the framework in software. The results are currently used in several research projects, licensed to commercial use and being tested for clinical use in several trials.

  16. Metallomic profiling and linkage map analysis of early Parkinson's disease: a new insight to aluminum marker for the possible diagnosis.

    Directory of Open Access Journals (Sweden)

    Shiek S S J Ahmed

    Full Text Available BACKGROUND: Parkinson's disease (PD is the most common neurodegenerative disorder. The diagnosis of PD is challenging and currently none of the biochemical tests have proven to help in diagnosis. Serum metallomic analysis may suggest the possibility of diagnosis of PD. METHODOLOGY/RESULTS: The metallomic analysis was targeted on 31 elements obtained from 42 healthy controls and 45 drug naive PD patients using ICP-AES and ICP-MS to determine the concentration variations of elements between PD and normal. The targeted metallomic analysis showed the significant variations in 19 elements of patients compared to healthy control (p<0.04. The partial least squares discriminant analysis (PLS-DA showed aluminium, copper, iron, manganese and zinc are the key elements, contributes the separation of PD patients from control samples. The correlation coefficient analysis and element-element ratio confirm the imbalance of inter-elements relationship in PD patients' serum. Furthermore, elements linkage map analysis showed aluminium is a key element involved in triggering of phosphorus, which subsequently lead to imbalance of homeostatic in PD serum. The execution of neural network using elements concentrations provides 95% accuracy in detection of disease. CONCLUSIONS/SIGNIFICANCE: These results suggest that there is a disturbance in the elements homeostasis and inter-elements relationship in PD patients' serum. The analysis of serum elements helps in linking the underlying cellular processes such as oxidative stress, neuronal dysfunction and apoptosis, which are the dominating factors in PD. Also, these results increase the prospect of detection of early PD from serum through neural network algorithm.

  17. New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

    Science.gov (United States)

    Ceballos-Picot, Irène; Le Dantec, Aurélia; Brassier, Anaïs; Jaïs, Jean-Philippe; Ledroit, Morgan; Cahu, Julie; Ea, Hang-Korng; Daignan-Fornier, Bertrand; Pinson, Benoît

    2015-01-23

    Lesch-Nyhan disease is a rare X-linked neurodevelopemental metabolic disorder caused by a wide variety of mutations in the HPRT1 gene leading to a deficiency of the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt). The residual HGprt activity correlates with the various phenotypes of Lesch-Nyhan (LN) patients and in particular with the different degree of neurobehavioral disturbances. The prevalence of this disease is considered to be underestimated due to large heterogeneity of its clinical symptoms and the difficulty of diagnosing of the less severe forms of the disease. We therefore searched for metabolic changes that would facilitate an early diagnosis and give potential clues on the disease pathogenesis and potential therapeutic approaches. Lesch-Nyhan patients were diagnosed using HGprt enzymatic assay in red blood cells and identification of the causal HPRT1 gene mutations. These patients were subsequently classified into the three main phenotypic subgroups ranging from patients with only hyperuricemia to individuals presenting motor dysfunction, cognitive disability and self-injurious behavior. Metabolites from the three classes of patients were analyzed and quantified by High Performance Ionic Chromatography and biomarkers of HGprt deficiency were then validated by statistical analyses. A cohort of 139 patients, from 112 families, diagnosed using HGprt enzymatic assay in red blood cells, was studied. 98 displayed LN full phenotype (86 families) and 41 (26 families) had attenuated clinical phenotypes. Genotype/phenotype correlations show that LN full phenotype was correlated to genetic alterations resulting in null enzyme function, while variant phenotypes are often associated with missense mutations allowing some residual HGprt activity. Analysis of metabolites extracted from red blood cells from 56 LN patients revealed strong variations specific to HGprt deficiency for six metabolites (AICAR mono- and tri

  18. (99m)Tc-MDP SPECT/CT as the one-stop imaging modality for the diagnosis of early setting of Kienbock's disease.

    Science.gov (United States)

    Arora, S; Singh Dhull, V; Karunanithi, S; Kumar Parida, G; Sharma, A; Shamim, S A

    2015-01-01

    (99m)Tc-Methylene diphosphonate (MDP) triple phase bone scintigraphy (BS) has a role in early diagnosis of Kienbock's disease, especially when the X-ray is negative. Early diagnosis can result in prompt management of the patient since wrist pain in older individuals due to aging may go unnoticed or be due to other diagnoses with the production of greater damage and eventually a worse prognosis. Herein, we present a case report of a 29-year-old female with Kienbock's disease in whom the X-ray was negative and MRI incorrect. The (99m)Tc-MDP SPECT/CT BS helped the diagnosis of the disease in an early stage (stage 1) and had a clinical impact on the patient's management.

  19. Early molecular diagnosis of acute Chagas disease after transplantation with organs from Trypanosoma cruzi-infected donors.

    Science.gov (United States)

    Cura, C I; Lattes, R; Nagel, C; Gimenez, M J; Blanes, M; Calabuig, E; Iranzo, A; Barcan, L A; Anders, M; Schijman, A G

    2013-12-01

    Organ transplantation (TX) is a novel transmission modality of Chagas disease. The results of molecular diagnosis and characterization of Trypanosoma cruzi acute infection in naïve TX recipients transplanted with organs from infected deceased donors are reported. Peripheral blood and cerebrospinal fluid samples from the TX recipients of organs from infected donors were prospectively and sequentially studied for detection of T. cruzi by means of kinetoplastid DNA polymerase chain reaction (kDNA-PCR). In positive blood samples, a PCR algorithm for identification of T. cruzi Discrete Typing Units (DTUs) and quantitative real-time PCR (qPCR) to quantify parasitic loads were performed. Minicircle signatures of T. cruzi infecting populations were also analyzed using restriction fragment length polymorphism (RFLP)-PCR. Eight seronegative TX recipients from four infected donors were studied. In five, the infection was detected at 68.4 days post-TX (36-98 days). In one case, it was transmitted to two of three TX recipients. The comparison of the minicircle signatures revealed nearly identical RFLP-PCR profiles, confirming a common source of infection. The five cases were infected by DTU TcV. This report reveals the relevance of systematic monitoring of TX recipients using PCR strategies in order to provide an early diagnosis allowing timely anti-trypanosomal treatment.

  20. Optimizing the diagnosis of early Alzheimer's disease in mild cognitive impairment subjects

    DEFF Research Database (Denmark)

    Mattila, Jussi; Soininen, Hilkka; Koikkalainen, Juha

    2012-01-01

    of the disease. Several studies have analyzed data of mild cognitive impairment (MCI) subjects, showing that conversion from MCI to AD can be predicted with a classification accuracy of 60-80%. This accuracy may not be high enough for influencing diagnostic decisions. In this work, the prediction problem...... is approached differently; a target prediction accuracy is defined first and is then used for identifying MCI patients for whom the required accuracy can be reached. The process uses a novel disease state index method in which patient data are statistically compared to a high number of previously diagnosed...... cases. It is shown that the disease index values derived from heterogeneous patient data can be used for identifying groups of patients for whom the prediction accuracy reaches the previously set target level. The results also show that 12 months before receiving clinical AD diagnoses, approximately...

  1. Limited diagnostic value of procalcitonin in early diagnosis of adult onset Still's disease.

    Science.gov (United States)

    Gowin, Ewelina; Wysocki, Jacek

    2016-01-01

    A 17-year-old female patient was referred to the Infectious Diseases Ward because of fever lasting for 14 days. On admission to the hospital the patient was in a generally good state, without any abnormalities on physical examination. Laboratory investigation revealed elevated inflammatory markers. Diagnostic imaging comprising chest X-ray, abdominal ultrasonography, and echocardiography showed no abnormalities. During the hospitalization, there occurred episodes of fever with skin rash and musculoskeletal pain of the lower limbs. Procalcitonin concentrations continued to increase. C-reactive protein concentrations decreased during therapy, starting from 191 mg/l. On the 23(rd) day of the disease, edema of the feet, ankles, and knees appeared. On the basis of the clinical picture and after excluding other possible causes of fever, the patient was diagnosed with adult onset Still's disease. The procalcitonin concentration was normalized after 5 days of steroid therapy. The patient was discharged under ambulatory rheumatologic supervision.

  2. Limited diagnostic value of procalcitonin in early diagnosis of adult onset Still’s disease

    Science.gov (United States)

    Wysocki, Jacek

    2016-01-01

    A 17-year-old female patient was referred to the Infectious Diseases Ward because of fever lasting for 14 days. On admission to the hospital the patient was in a generally good state, without any abnormalities on physical examination. Laboratory investigation revealed elevated inflammatory markers. Diagnostic imaging comprising chest X-ray, abdominal ultrasonography, and echocardiography showed no abnormalities. During the hospitalization, there occurred episodes of fever with skin rash and musculoskeletal pain of the lower limbs. Procalcitonin concentrations continued to increase. C-reactive protein concentrations decreased during therapy, starting from 191 mg/l. On the 23rd day of the disease, edema of the feet, ankles, and knees appeared. On the basis of the clinical picture and after excluding other possible causes of fever, the patient was diagnosed with adult onset Still’s disease. The procalcitonin concentration was normalized after 5 days of steroid therapy. The patient was discharged under ambulatory rheumatologic supervision. PMID:27826176

  3. [Possibilities of modern imaging technologies in early diagnosis of Alzheimer disease].

    Science.gov (United States)

    Unschuld, Paul G

    2015-04-01

    Recent advances in neuroimaging technology and image analysis algorithms have significantly contributed to a better understanding of spatial and temporal aspects of brain change associated with Alzheimer Disease. The current review will demonstrate how functional (fMRI) and structural magnetic resonance imaging (MRI) techniques may be used to identify distinct patterns of brain change associated with disease progression and also increased risk for Alzheimer Disease. Moreover, Positron Emission Tomography (PET) based measures of glucosemetabolism (Fluorodeoxyglucose, FDG) and Amyloid-beta plaque density (11-C-Pittsburgh Compound B, PiB and 18-F) will be reviewed regarding their diagnostic value for assessing the individual degree of Alzheimer -pathology and thus complement the information provided by MRI and other clinical measures.

  4. Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.

    Science.gov (United States)

    Figus, A; Lampis, R; Devoto, M; Ristaldi, M S; Ideo, A; de Virgilis, S; Nurchi, A M; Corrias, A; Corda, R; Lai, M E

    1989-01-01

    Wilson's disease, a rare autosomal recessive disorder, has been recently mapped to the long arm of chromosome 13 (q14.1). In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Italian descent, mostly from Sardinia. We confirmed a tight linkage [theta = 0.00, Z (theta) = 4.07] between the WND and ESD loci, and provided suggestive evidence for linkage [theta = 0.00, Z(theta) = 1.85] of the WND locus with D13S10. Multipoint linkage analysis indicated the following order: centromere-D13S1-D13S10-WND-ESD-D13S2. RFLP analysis at these two loci in our families allowed us either to define the carrier status (50%) or to exclude the homozygous state (25%) in the great majority of unaffected sibs. PMID:2563776

  5. Characterization of newborn's cries for the early diagnosis of various diseases

    Science.gov (United States)

    Kheddache, Yasmina

    The use of newborn cry signals in diagnosis is based on many theories proposed lately. The main objective in these researches is the cry signals modeling and spectrographic analysis. It has been shown that the newborn cry acoustics are linked to particular medical conditions. This thesis is motivated by improvement of the accuracy of pathological cries recognition. This can be performed by the combination of several acoustic parameters from spectrographic analysis and parameters that describe the configuration of vocal tract and vocal folds. Acoustic characteristics representing the vocal tract were widely applied to the classification of the cries. However the usefulness of vocal folds characteristics in the automatic recognition, as well as their effective techniques extraction have not been exploited deeply. In this context, we have performed a qualitative characterization of healthy and pathologic newborns cries using characteristics that have been defined in the literature and which describe vocal tract and vocal folds behavior during the cry. This step allowed us to identify the most relevant features in the differentiation of the studied pathological cries. For the extraction of selected characteristics, we have implemented effective measure methods that avoid the overestimation and underestimation of characteristics. The proposed and used approach for characteristics quantification facilitates the automatic analysis of cries and allows efficient use of these features in the diagnostic system. We also conducted experimental tests for the validation of all proposed approaches in this thesis. The results are suitable and show an improvement of the cry-based pathology recognition. The work presented in this thesis is a collection of three articles published/submitted in various journals. Two other papers published in conferences are presented in the annexes.

  6. Fluctuations in Protein Aggregation: Design of Preclinical Screening for Early Diagnosis of Neurodegenerative Disease

    Science.gov (United States)

    Costantini, Giulio; Budrikis, Zoe; Taloni, Alessandro; Buell, Alexander K.; Zapperi, Stefano; La Porta, Caterina A. M.

    2016-09-01

    Autocatalytic fibril nucleation has recently been proposed to be a determining factor for the spread of neurodegenerative diseases, but the same process could also be exploited to amplify minute quantities of protein aggregates in a diagnostic context. Recent advances in microfluidic technology allow the analysis of protein aggregation in micron-scale samples, potentially enabling such diagnostic approaches, but the theoretical foundations for the analysis and interpretation of such data are, so far, lacking. Here, we study computationally the onset of protein aggregation in small volumes and show that the process is ruled by intrinsic fluctuations whose volume-dependent distribution we also estimate theoretically. Based on these results, we develop a strategy to quantify in silico the statistical errors associated with the detection of aggregate-containing samples. Our work explores a different perspective on the forecasting of protein aggregation in asymptomatic subjects.

  7. Fluctuations in protein aggregation: Design of preclinical screening for early diagnosis of neurodegenerative disease

    CERN Document Server

    Costantini, Giulio; Taloni, Alessandro; Buell, Alexander K; Zapperi, Stefano; La Porta, Caterina A M

    2016-01-01

    Autocatalytic fibril nucleation has recently been proposed to be a determining factor for the spread of neurodegenerative diseases, but the same process could also be exploited to amplify minute quantities of protein aggregates in a diagnostic context. Recent advances in microfluidic technology allow analysis of protein aggregation in micron-scale samples potentially enabling such diagnostic approaches, but the theoretical foundations for the analysis and interpretation of such data are so far lacking. Here we study computationally the onset of protein aggregation in small volumes and show that the process is ruled by intrinsic fluctuations whose volume dependent distribution we also estimate theoretically. Based on these results, we develop a strategy to quantify in silico the statistical errors associated with the detection of aggregate containing samples. Our work opens a new perspective on the forecasting of protein aggregation in asymptomatic subjects.

  8. Breast Cancer - Early Diagnosis

    Centers for Disease Control (CDC) Podcasts

    2011-04-28

    This podcast answers a listener's question about how to tell if she has breast cancer.  Created: 4/28/2011 by National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP).   Date Released: 4/28/2011.

  9. Assessment of Liver Viscoelasticity for the Diagnosis of Early Stage Fatty Liver Disease Using Transient Elastography

    Science.gov (United States)

    Remenieras, Jean-Pierre; Dejobert, Maelle; Bastard, Cécile; Miette, Véronique; Perarnau, Jean-Marc; Patat, Frédéric

    Nonalcoholic fatty liver disease (NAFLD) is characterized by accumulation of fat within the Liver. The main objective of this work is (1) to evaluate the feasibility of measuring in vivo in the liver the shear wave phase velocity dispersion cs(ω) between 20 Hz and 90 Hz using vibration-controlled transient elastography (VCTE); (2) to estimate through the rheological Kelvin-Voigt model the shear elastic μ and shear viscosity η modulus; (3) to correlate the evolution of these viscoelastic parameters on two patients at Tours Hospital with the hepatic fat percentage measured with T1-weighted gradient-echo in-and out-phase MRI sequence. For the first volunteer who has 2% of fat in the liver, we obtained μ = 1233 ± 133 Pa and η = 0.5 ± 0.4 Pa.s. For the patient with 22% of fat, we measure μ = 964 ± 91 Pa and η = 1.77 ± 0.3 Pa.s. In conclusion, this novel method showed to be sensitive in characterizing the visco-elastic properties of fatty liver.

  10. Relevance of magnetic resonance imaging for early detection and diagnosis of Alzheimer disease.

    Science.gov (United States)

    Teipel, Stefan J; Grothe, Michel; Lista, Simone; Toschi, Nicola; Garaci, Francesco G; Hampel, Harald

    2013-05-01

    Hippocampus volumetry currently is the best-established imaging biomarker for AD. However, the effect of multicenter acquisition on measurements of hippocampus volume needs to be explicitly considered when it is applied in large clinical trials, for example by using mixed-effects models to take the clustering of data within centers into account. The marker needs further validation in respect of the underlying neurobiological substrate and potential confounds such as vascular disease, inflammation, hydrocephalus, and alcoholism, and with regard to clinical outcomes such as cognition but also to demographic and socioeconomic outcomes such as mortality and institutionalization. The use of hippocampus volumetry for risk stratification of predementia study samples will further increase with the availability of automated measurement approaches. An important step in this respect will be the development of a standard hippocampus tracing protocol that harmonizes the large range of presently available manual protocols. In the near future, regionally differentiated automated methods will become available together with an appropriate statistical model, such as multivariate analysis of deformation fields, or techniques such as cortical-thickness measurements that yield a meaningful metrics for the detection of treatment effects. More advanced imaging protocols, including DTI, DSI, and functional MRI, are presently being used in monocenter and first multicenter studies. In the future these techniques will be relevant for the risk stratification in phase IIa type studies (small proof-of-concept trials). By contrast, the application of the broader established structural imaging biomarkers, such as hippocampus volume, for risk stratification and as surrogate end point is already today part of many clinical trial protocols. However, clinical care will also be affected by these new technologies. Radiologic expert centers already offer “dementia screening” for well-off middle

  11. Diffusion Kurtosis Imaging of Substantia Nigra Is a Sensitive Method for Early Diagnosis and Disease Evaluation in Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Guohua Zhang

    2015-01-01

    Full Text Available Background. To diagnose Parkinson disease (PD in an early stage and accurately evaluate severity, it is important to develop a sensitive method for detecting structural changes in the substantia nigra (SN. Method. Seventy-two untreated patients with early PD and 72 healthy controls underwent diffusion tensor and diffusion kurtosis imaging. Regions of interest were drawn in the rostral, middle, and caudal SN by two blinded and independent raters. Mean kurtosis (MK and fractional anisotropy in the SN were compared between the groups. Receiver operating characteristic (ROC and Spearman correlation analyses were used to compare the diagnostic accuracy and correlate imaging findings with Hoehn-Yahr (H-Y staging and part III of the Unified Parkinson’s Disease Rating Scale (UPDRS-III. Result. MK in the SN was increased significantly in PD patients compared with healthy controls. The area under the ROC curve was 0.976 for MK in the SN (sensitivity, 0.944; specificity, 0.917. MK in the SN had a positive correlation with H-Y staging and UPDRS-III scores. Conclusion. Diffusion kurtosis imaging is a sensitive method for PD diagnosis and severity evaluation. MK in the SN is a potential biomarker for imaging studies of early PD that can be widely used in clinic.

  12. Characteristics of seroconversion and implications for diagnosis of post-treatment Lyme disease syndrome: acute and convalescent serology among a prospective cohort of early Lyme disease patients.

    Science.gov (United States)

    Rebman, Alison W; Crowder, Lauren A; Kirkpatrick, Allison; Aucott, John N

    2015-03-01

    Two-tier serology is often used to confirm a diagnosis of Lyme disease. One hundred and four patients with physician diagnosed erythema migrans rashes had blood samples taken before and after 3 weeks of doxycycline treatment for early Lyme disease. Acute and convalescent serologies for Borrelia burgdorferi were interpreted according to the 2-tier antibody testing criteria proposed by the Centers for Disease Control and Prevention. Serostatus was compared across several clinical and demographic variables both pre- and post-treatment. Forty-one patients (39.4%) were seronegative both before and after treatment. The majority of seropositive individuals on both acute and convalescent serology had a positive IgM western blot and a negative IgG western blot. IgG seroconversion on western blot was infrequent. Among the baseline variables included in the analysis, disseminated lesions (p Lyme disease. Furthermore, these findings underline the difficulty for rheumatologists in identifying a prior exposure to Lyme disease in caring for patients with medically unexplained symptoms or fibromyalgia-like syndromes.

  13. EARLY DIAGNOSIS OF CONGENITAL HEART DISEASE%新生儿先天性心脏病早期诊断

    Institute of Scientific and Technical Information of China (English)

    冉建瑜

    2011-01-01

    [Objective] To improve the diagnosis rate, reduce mortality and morbidity of congenital heart disease, summarize the early diagnosis of congenital neart disease characteristics. [Methods] From January 2008 -December 2010, 61 neonatal children with congenital heart disease admitted to our hospital were diagnosed by color Doppler ultrasound, retrospectively analyzed to the clinical features of children with congenital heart disease performance and auxiliary examination. [ Re-Sults] The qolor Doppler ultrasound investigation showed that newborns with congenital heart disease mainly were found with ventricular septal defect, followed by atri^l septal defect. CR film showed expansion of the heart shadow in 20 cases (32.7%) , lung field congestion in 16 patients (26.2%), lung field ischemia in 9 patients (14.8%) . ECG showed right ventricular hypertrophy in 20 cases (32.7%), ECG left side in 9 cases (14.8%), arrhythmia in 8 patients (13.1%) , supraventricular brady-cardia in 3 patients (4.9%), sT-segment depression in 1 case (1.6%). [Conclusion] Neonatal congenital heart disease is deficiency in clinical manifestations, shortness of breath is common, and the majority pathological type is ventricular septal defect. Color Doppler ultrasound examination is with a unique advantage.%[目的]为提高临床诊断率,降低先心病病死率及致残率,总结新生儿先天性心脏病患者早期诊断特点.[方法]选择2008年1月-2010年12月住院新生儿科的先心病患儿共61例,所有患儿均经过彩色多普勒超声明确诊断,回顾分析心儿先天性心脏病临床特征性表现及各辅助检查结果.[结果]彩超查显示,新生儿先天性心脏病中以室间隔缺损居多,其次为房间隔缺损.CR拍片显示心影扩大者20例(32.7%),肺野淤血者16例(26.2%),肺野缺血者9例(14.8%).心电图检查显示右室肥厚者20例(32.7%),心电左偏者9例(14.8%),心率不整者8例(13.1%),室上性心动过缓者3例(4.9%),s-T段压低者1

  14. Early nutritional supplementation immediately after diagnosis of infectious disease improves body weight in psychogeriatric nursing home residents

    NARCIS (Netherlands)

    Wouters-Wesseling, W.; Slump, E.; Kleijer, C.N.; Groot, de C.P.G.M.; Staveren, van W.A.

    2006-01-01

    Background and aims: Many elderly people with Alzheimer's disease experience weight loss. Illness and inadequate regain after a period of illness are considered as contributory causes of progressive weight loss in psychogeriatric patients. We studied whether early use of a liquid nutrition supplemen

  15. [Early diagnosis of ectopic pregnancy].

    Science.gov (United States)

    Belics, Zoran; Gérecz, Balázs; Csákány, M György

    2014-07-20

    Ectopic pregnancy is a high-risk condition that occurs in 2% of reported pregnancies. This percentage is fivefold higher than that registered in the 1970s. Since 1970 there has been a two-fold increase in the ratio of ectopic pregnancies to all reported pregnancies in Hungary and in 2012 7.4 ectopic pregnancies per thousand registered pregnancies were reported. Recently, the majority (80%) of cases can be diagnosed in early stage, and the related mortality objectively decreased in the past few decades to 3.8/10,000 ectopic pregnancies. If a woman with positive pregnancy test has abdominal pain and/or vaginal bleeding the physician should perform a work-up to safely exclude the possibility of ectopic pregnancy. The basis of diagnosis is ultrasonography, especially vaginal ultrasound examination and measurement of the β-subunit of human chorionic gonadotropin. The ultrasound diagnosis is based on the visualization of an ectopic mass rather than the inability to visualize an intrauterine pregnancy. In some questionable cases the diagnostic uterine curettage or laparoscopy may be useful. The actuality of this topic is justified by practical difficulties in obtaining correct diagnosis, especially in the early gestational time.

  16. Parkinson's Disease: Diagnosis and Treatment

    Science.gov (United States)

    ... of this page please turn JavaScript on. Feature: Parkinson's Disease Parkinson's Disease: Diagnosis and Treatment Past Issues / Winter 2014 Table of Contents Medications for Parkinson's disease can help many patients live productive lives and ...

  17. Celiac Disease: Symptoms, Diagnosis & Treatment

    Science.gov (United States)

    ... of this page please turn JavaScript on. Feature: Celiac Disease Symptoms, Diagnosis & Treatment Past Issues / Spring 2015 Table ... Contents What are some of the symptoms of celiac disease? Some people with celiac disease may not feel ...

  18. Celiac Disease Diagnosis: Endoscopic Biopsy

    Science.gov (United States)

    Diagnosis If antibody tests and symptoms suggest celiac disease, the physician needs to establish the diagnosis by obtaining tiny pieces of tissue from the upper small intestine to check for damage to ...

  19. Early diagnosis of early stage lung cancer

    Directory of Open Access Journals (Sweden)

    Andrej Debeljak

    2005-11-01

    Full Text Available Background: For the detection of premalignant changes of bronchial mucosa and early stages of lung cancer frequent chest X-ray, spiral low dose computed tomography, fluorescence bronchoscopy, sputum cytology (also with automated systems with genetic and molecular changes in the sputum cells and bronchial mucosa were used. These screening methods of the high-risk groups for lung cancer achieved: earlier diagnosis of lung cancer in lower stage, higher operability, longer 5-year survival, but without mortality reduction.Conclusions: In the clinical practice we can examine higher risk groups for lung cancer in randomised control trials with multimodality approach: frequent chest low-dose fast spiral computed tomography, sputum cytology with genetic and molecular examinations and fluorescence bronchoscopy. Smoking cessation remains the best means to achieve mortality reduction from lung cancer.

  20. [Diagnosis of Hansen's disease].

    Science.gov (United States)

    Yotsu, Rie Roselyne; Suzuki, Koichi; Mori, Shuichi; Ishii, Norihisa

    2011-02-01

    The Leprosy Mailing List (LML) is an e-mailing list open to whoever interested in the field from all over the world. It acts as a forum for exchanging information related to Hansen's disease. It was established in February 2001 in Italy, and the present moderator of the LML is Dr. Salvatore Noto. He and his colleague have recently introduced an atlas for diagnosing Hansen's disease which they brought together information and photos collected through the LML. The atlas is divided into three sections, (1) Introduction, (2) Cardinal signs, and (3) Diagnosis and the clinical spectrum of leprosy, and they are all accompanied with relevant photos. This time, Dr. Noto kindly permitted us to translate the atlas into Japanese to be published in the Japanese Journal of Leprosy and posted in the Japanese Leprosy Association homepage. This article includes the translation and some of the most informative photos. For more information, please refer to the homepage where you will find all photos in the atlas.

  1. Mining SNPs in extracellular vesicular transcriptome of Trypanosoma cruzi: a step closer to early diagnosis of neglected Chagas disease

    Science.gov (United States)

    Chaturvedi, Anoop

    2016-01-01

    One of the newest and strongest members of intercellular communicators, the Extracellular vesicles (EVs) and their enclosed RNAs; Extracellular RNAs (exRNAs) have been acknowledged as putative biomarkers and therapeutic targets for various diseases. Although a very deep insight has not been possible into the physiology of these vesicles, they are believed to be involved in cell-to-cell communication and host-pathogen interactions. EVs might be significantly helpful in discovering biomarkers for possible target identification as well as prognostics, diagnostics and developing vaccines. In recent studies, highly bioactive EVs have drawn attention of parasitologists for being able to communicate between different cells and having likeliness of reflecting both source and target environments. Next-generation sequencing (NGS) has eased the way to have a deeper insight into these vesicles and their roles in various diseases. This article arises from bioinformatics-based analysis and predictive data mining of transcriptomic (RNA-Seq) data of EVs, derived from different life stages of Trypanosoma cruzi; a causing agent of neglected Chagas disease. Variants (Single Nucleotide Polymorphisms (SNPs)) were mined from Extracellular vesicular transcriptomic data and functionally analyzed using different bioinformatics based approaches. Functional analysis showed the association of these variants with various important factors like Trans-Sialidase (TS), Alpha Tubulin, P-Type H+-ATPase, etc. which, in turn, are associated with disease in different ways. Some of the ‘candidate SNPs’ were found to be stage-specific, which strengthens the probability of finding stage-specific biomarkers. These results may lead to a better understanding of Chagas disease, and improved knowledge may provide further development of the biomarkers for prognosis, diagnosis and drug development for treating Chagas disease. PMID:27904804

  2. A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia.

    Science.gov (United States)

    Motta, Irene; Filocamo, Mirella; Poggiali, Erika; Stroppiano, Marina; Dragani, Alfredo; Consonni, Dario; Barcellini, Wilma; Gaidano, Gianluca; Facchini, Luca; Specchia, Giorgina; Cappellini, Maria Domenica

    2016-04-01

    Gaucher disease (GD) is the most common lysosomal disorder resulting from deficient activity of the β-glucosidase enzyme that causes accumulation of glucosylceramide in the macrophage-monocyte system. Notably, because of non-specific symptoms and a lack of awareness, patients with GD experience long diagnostic delays. The aim of this study was to apply a diagnostic algorithm to identify GD type 1 among adults subjects referred to Italian haematology outpatient units because of splenomegaly and/or thrombocytopenia and, eventually, to estimate the prevalence of GD in this selected population. One hundred and ninety-six subjects (61 females, 135 males; mean age 47.8 ± 18.2 years) have been enrolled in the study and tested for β-glucosidase enzyme activity on dried blood spot (DBS). Seven of 196 patients have been diagnosed with GD, (5 females and 2 males) with mean age 31.8 ± 8.2 years, with a prevalence of 3.6% (with a prevalence of 3.6% (I95% CI 1.4-7.2; 1/28 patients) in this population. These results show that the use of an appropriate diagnostic algorithm and a simple diagnostic method, such as DBS, are important tools to facilitate the diagnosis of a rare disease even for not disease-expert physicians.

  3. [The importance of early diagnosis in acromegaly].

    Science.gov (United States)

    Valkusz, Zsuzsanna; Tóth, Miklós; Boda, Judit; Nagy, Endre; Julesz, János

    2011-05-01

    The authors review the historical and epidemiological aspects, clinical features and complications of acromegaly while emphasizing the importance of the early diagnosis and treatment. Acromegaly is a rare and mostly sporadic disorder due to excessive production of growth hormone. It is characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations. The prevalence is estimated between 40 and 125 cases/million. Generally, it is diagnosed in middle-aged adults (mean age 40 years, men and women equally affected). Due to its insidious onset and slow progression, acromegaly is often diagnosed 7 to more than 10 years after its onset. The disease has cardiovascular, rheumatological, respiratory and metabolic consequences which highly determine its prognosis. Acromegaly is associated with a number of complications resulting in a two- or four-fold increase of mortality and a decrease of life expectancy by about 10 years. The major causes of death include cardiovascular and cerebrovascular events, respiratory diseases and malignancies. The duration of the disease before the introduction of effective therapy may be a major predictor of increased mortality mainly due to complications . The early diagnosis is important for timely commencement of treatment and for prevention of serious complications of the disease.

  4. Saliva in the diagnosis of diseases

    Institute of Scientific and Technical Information of China (English)

    Chen-Zi Zhang; Xing-Qun Cheng; Ji-Yao Li; Ping Zhang; Ping Yi; Xin Xu; Xue-Dong Zhou

    2016-01-01

    Saliva is secreted from the salivary glands and has multiple functions, including mouth cleaning and protection, antibacterial effects and digestion. With the rapid advancement in salivaomics, saliva is well recognized as a pool of biological markers. Saliva, as a non-invasive and safe source, could be a substitute for blood in the diagnosis and prognosis of diseases. This review summarizes the latest advancements in saliva-related studies and addresses the potential value of saliva in the early diagnosis of oral diseases, such as dental caries and periodontal disease, as well as cancer, diabetes and other systemic disorders. Saliva biomarkers range from changes in the biochemical indices of DNA, RNA and proteins to the diversification of microbiota structures. This study integrates data reported in the recent literature and discusses the clinical significance and prospects for the application of saliva in the early diagnosis of diseases, translational medicine and precision medicine.

  5. Saliva in the diagnosis of diseases

    Science.gov (United States)

    Zhang, Chen-Zi; Cheng, Xing-Qun; Li, Ji-Yao; Zhang, Ping; Yi, Ping; Xu, Xin; Zhou, Xue-Dong

    2016-01-01

    Saliva is secreted from the salivary glands and has multiple functions, including mouth cleaning and protection, antibacterial effects and digestion. With the rapid advancement in salivaomics, saliva is well recognized as a pool of biological markers. Saliva, as a non-invasive and safe source, could be a substitute for blood in the diagnosis and prognosis of diseases. This review summarizes the latest advancements in saliva-related studies and addresses the potential value of saliva in the early diagnosis of oral diseases, such as dental caries and periodontal disease, as well as cancer, diabetes and other systemic disorders. Saliva biomarkers range from changes in the biochemical indices of DNA, RNA and proteins to the diversification of microbiota structures. This study integrates data reported in the recent literature and discusses the clinical significance and prospects for the application of saliva in the early diagnosis of diseases, translational medicine and precision medicine. PMID:27585820

  6. [Application of saliva in disease diagnosis].

    Science.gov (United States)

    Xingqun, Cheng; Xuedong, Zhou; Xin, Xu

    2016-12-01

    Saliva is secreted by salivary glands and performs a variety of functions, including mouth cleaning and protection, antibacterial activity, and digestion. With the rapid progress in salivaomics, saliva became recognized as a potential pool of biological markers. Being a non-invasive and safe source, saliva is a potential substitute for blood in diagnosis and prognosis of diseases. This review summarizes the latest advancement in saliva-related studies and presents the potential value of saliva in early diagnosis of oral diseases, such as dental caries, periodontal disease, cancer, diabetes, and other systemic disorders. Saliva biomarkers can reveal changes ranging from changes in biochemical index, DNA, RNA, and proteins to the diversification of microbiota structure. By integrating recent data, this paper discusses the clinical significance and application prospect of saliva in early diagnosis of diseases and in translational and precision medicine.

  7. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

    Directory of Open Access Journals (Sweden)

    Sommer Claudia

    2011-05-01

    Full Text Available Abstract Background Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of lipids in a variety of cell types, including neural cells. Small, unmyelinated nerve fibers are particularly affected and small fiber peripheral neuropathy often clinically manifests at young age. Peripheral pain can be chronic and/or occur as provoked attacks of excruciating pain. Manifestations of dysfunction of small autonomic fibers may include, among others, impaired sweating, gastrointestinal dysmotility, and abnormal pain perception. Patients with Fabry disease often remain undiagnosed until severe complications involving the kidney, heart, peripheral nerves and/or brain have arisen. Methods An international expert panel convened with the goal to provide guidance to clinicians who may encounter unrecognized patients with Fabry disease on how to diagnose these patients early using simple diagnostic tests. A further aim was to offer recommendations to control neuropathic pain. Results We describe the neuropathy in Fabry disease, focusing on peripheral small fiber dysfunction - the hallmark of early neurologic involvement in this disorder. The clinical course of peripheral pain is summarized, and the importance of medical history-taking, including family history, is highlighted. A thorough physical examination (e.g., angiokeratoma, corneal opacities and simple non-invasive sensory perception tests could provide clues to the diagnosis of Fabry disease. Reported early clinical benefits of enzyme replacement therapy include reduction of neuropathic pain, and adequate management of residual pain to a tolerable and functional level can substantially improve the quality of life for patients. Conclusions Our recommendations can assist in diagnosing Fabry small fiber neuropathy early, and offer clinicians guidance in controlling peripheral pain. This is particularly important since management of pain in young patients with

  8. Calcitonin stimulation tests for the early diagnosis and follow-up of patients with C cell disease: a descriptive analysis.

    Science.gov (United States)

    Vainas, I; Marthopoulos, A; Chrisoulidou, A; Raptou, K; Tziomalos, K; Pazaitou-Panayiotou, K

    2013-07-01

    Residual or recurrent medullary thyroid carcinoma (MTC) after thyroidectomy is diagnosed by elevated serum calcitonin (CT) levels. However, in minimal residual MTC or C-cell hyperplasia (CCH), where imaging studies are often negative, basal CT levels are frequently normal and CT stimulation tests are required. We aimed to compare CT stimulation tests with calcium, pentagastrin and their combination in identifying minimal residual MTC and CCH. We studied 10 post-thyroidectomy patients with MTC and 20 first-degree relatives of the patients who had no clinically apparent MTC. We performed 54 combined (calcium plus pentagastrin) stimulation tests, 35 calcium stimulation tests and 26 pentagastrin stimulation tests. Basal CT levels were abnormal (≥500 pg/ml) in 4 patients with apparent metastatic disease (Group 1A) and in 2 patients with minimal residual disease (Group 1B) but were normal (0-300 pg/ml) in 4 patients with no residual disease (Group 1C) and in the relatives (Group 2). In Groups 1A, 1B and 1C, maximal elevation in CT levels was greater after the combined stimulation test than after calcium or pentagastrin tests. The combined stimulation test induced the greatest increases (920, 700 and 706 pg/ml, respectively) in 3 relatives (Group 2); CCH was confirmed histologically in these patients. Side-effects were mild, short-lasting and of similar intensity and duration during all tests. Patients with subclinical MTC (minimal residual or recurrent MTC) or their relatives (with CCH) usually have normal basal CT levels and stimulation tests are necessary. Combined test represents the most sensitive and safe stimulation test for the diagnosis of subclinical hypercalcitonemia.

  9. Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases

    Science.gov (United States)

    Aksu, Guzide; Ulusoy, Ezgi; Gozmen, Salih; Genel, Ferah; Akarcan, Sanem; Gulez, Nesrin; Hirschmugl, Tatjana; Kansoy, Savas; Boztug, Kaan

    2016-01-01

    Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies. Quantitative determination of oxidative burst was normal, excluding chronic granulomatous disease. Colonoscopy revealed granulation, ulceration, and pseudopolyps, compatible with colitis. Very early-onset colitis and perianal disease leading to fistula formation suggested probability of inherited deficiencies of IL-10 or IL-10 receptor. A mutation at position c.G477A in exon of the IL10RB gene, resulting in a stop codon at position p.W159X, was identified. The patient underwent myeloablative hematopoietic stem cell transplantation from full matched father at 11 months of age. Perianal lesions, chronic diarrhea, and recurrent infections resolved after transplantation. IL-10/IL-10R deficiencies must be considered in patients with early-onset enterocolitis. PMID:27699073

  10. Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases

    Directory of Open Access Journals (Sweden)

    Neslihan Edeer Karaca

    2016-01-01

    Full Text Available Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies. Quantitative determination of oxidative burst was normal, excluding chronic granulomatous disease. Colonoscopy revealed granulation, ulceration, and pseudopolyps, compatible with colitis. Very early-onset colitis and perianal disease leading to fistula formation suggested probability of inherited deficiencies of IL-10 or IL-10 receptor. A mutation at position c.G477A in exon of the IL10RB gene, resulting in a stop codon at position p.W159X, was identified. The patient underwent myeloablative hematopoietic stem cell transplantation from full matched father at 11 months of age. Perianal lesions, chronic diarrhea, and recurrent infections resolved after transplantation. IL-10/IL-10R deficiencies must be considered in patients with early-onset enterocolitis.

  11. Breast Cancer Early Detection and Diagnosis

    Science.gov (United States)

    ... En Español Category Cancer A-Z Breast Cancer Breast Cancer Early Detection and Diagnosis Breast cancer is sometimes ... cancer screening is so important. Learn more. Can Breast Cancer Be Found Early? Breast cancer is sometimes found ...

  12. Toward early diagnosis of arteriosclerotic diseases: collaborative detection of carotid artery calcifications by computer and dentists on dental panoramic radiographs

    Science.gov (United States)

    Muramatsu, Chisako; Takahashi, Ryo; Hara, Takeshi; Hayashi, Tatsuro; Katsumata, Akitoshi; Zhou, Xiangrong; Fujita, Hiroshi

    2014-03-01

    Several studies have reported the presence of carotid artery calcifications (CACs) on dental panoramic radiographs (DPRs) as a possible sign of arteriosclerotic diseases. However, CACs are not easily visible at the common window level for dental examinations, and dentists, in general, are not looking for CACs. Computerized detection of CACs may help dentists in referring patients with a risk of arteriosclerotic diseases to have a detailed examination at a medical clinic. Downside of our previous method was a relatively large number of false positives (FPs). In this study, we attempted to reduce FPs by including an additional feature and selecting effective features for the classifier. A hundred DPRs including 34 cases with calcifications were included. Initial candidates were detected by thresholding the output of top-hat operation. For each candidate, 10 features and a new feature characterizing the relative position of a CAC with reference to the lower mandible edge were determined. After the rule-based FP reduction, candidates were classified into CACs and FPs by a support vector machine. Based on the leave-one-out cross-validation evaluations, an average number of FPs was 3.1 per image at 90.4% sensitivity using seven features selected. Compared to our previous method, the number of FPs was reduced by 38% at the same sensitivity level. The proposed method has a potential in identifying patients with a risk of arteriosclerosis early via general dental examinations.

  13. Early diagnosis crucial in ankylosing spondylitis.

    Science.gov (United States)

    Malaviya, Anshuman P; Ostor, Andrew J K

    2011-12-01

    Ankylosing spondylitis (AS) is an inflammatory autoimmune disorder that predominantly affects the spine. If untreated it may cause significant morbidity. Early diagnosis is particularly important as newer therapies are able to contain this condition and even induce remission. AS affects about 0.2-0.5% of the population. It is at least twice as common in men and most often manifests in the third to fifth decades. It is estimated that up to 5% of patients with chronic lower back pain in primary care have inflammatory disease. Although only 1% of patients with HLA-B27 develop AS, 90-95% of patients with AS are positive for HLA-B27. Immune dysfunction is the hallmark of this condition and it may be triggered by infection. The primary site of inflammation in AS is the entheses, the sites of insertion of tendons and ligaments into bone. If the inflammation remains untreated, there is resultant fibrosis and ultimately ossification at the entheseal sites. AS should be suspected in patients who report back pain and stiffness with rest, especially in the morning, which improves with exercise. Although the condition affects both the sacroiliac joints, a proportion of patients report pain radiating into the buttocks which may be unilateral or alternate, particularly in the early stages. In addition to the spine, large joint synovitis may develop as well as features of entheseal involvement. New classification criteria take into account early sacroiliitis evident on MRI scan and allow a diagnosis to be made far earlier than was previously possible. A proportion of patients respond well to NSAIDs coupled with a structured physiotherapy and exercise programme. However, about half these patients need escalation to biologic therapy. Patients with a suspected diagnosis should be referred to secondary care in order to confirm the diagnosis and commence treatment.

  14. [Oral cavity cancer: epidemiology and early diagnosis].

    Science.gov (United States)

    Ghantous, Y; Yaffi, V; Abu-Elnaaj, I

    2015-07-01

    Cancer of the oral cavity (Oral cancer) is the 11th most common malignancy in the world, despite the general global trend of a slight decrease in the incidence of oral cancer, tongue cancer incidence is increasing. About 90% of tumors are subtyped to oral Squamous cell carcinoma (OSCC). The incidence and mortality of this tumor shows variability according to the geographic location in which it is diagnosed, however in the last decade an increase was seen in the percentage of young patients, especially patients with tongue cancer. The overall prognosis of this cancer is roughly 55-65%, this is probably due to late diagnosis. Early diagnosis of oral cancer is the most important factor affecting the overall survival and prognosis, thus several diagnosis methods have been developed in the past few years. Still, the prognosis did not improve as expected. Oral cancer biomarkers in saliva is as easy body fluid, for noninvasive detection. Several researches identified several possible biomarkers, but none was specific. In our review, the incidence and mortality of oral tumors pose a main health problem in many aspects all around the world, as well as differences in behavior of these tumors. We witnessed more cases of anterior tongue cancers affecting mainly the young age patient group, a two decades younger than the normal risk group of oral cancer. Several countries in Europe showed a significant increase of oral cancer prevalence, such as Germany, especially in men. Similar behavior was also reported in the United States, which showed a change in the risk groups. Studies have reported an alarming lack of awareness about oral cancer, its symptoms and early diagnosis. These gaps in knowledge need to be addressed by further public education, possibly targeted at high-risk groups. With the knowledge of possible, specific, early biomarkers, primary detection could improve the prognosis tremendously. Research on the salivary biomarkers of the disease would help to develop

  15. Impact of early diagnosis and control of chronic respiratory diseases on active and healthy ageing. A debate at the European Union Parliament.

    Science.gov (United States)

    Bousquet, J; Tanasescu, C C; Camuzat, T; Anto, J M; Blasi, F; Neou, A; Palkonen, S; Papadopoulos, N G; Antunes, J P; Samolinski, B; Yiallouros, P; Zuberbier, T

    2013-01-01

    A debate at the European Union Parliament was held on 13 November 2012 on the Impact of early diagnosis and control of chronic respiratory diseases on Active and Healthy Ageing (AHA). The debate was held under the auspices of the Cyprus Presidency of the European Union (2012) and represents a follow-up of the priorities of the Polish Presidency of the European Union (2011). It highlighted the importance of early life events on the occurrence of chronic respiratory diseases later in life and their impact on active and healthy ageing. Epidemiologic evidence was followed by actions that should be taken to prevent and manage chronic respiratory diseases in children. The debate ended by practical, feasible and achievable projects, demonstrating the strength of the political action in the field. Three projects will be initiated from this debate: The first will be a meeting sponsored by the Région Languedoc-Roussillon on the developmental origins of chronic diseases and ageing: from research to policies and value creation. The second project is being led by the WHO Collaborating Centre for Asthma and Rhinitis: Prevention of Asthma, Prevention of Allergy (PAPA). The third project is the GA(2)LEN sentinel network.

  16. Celiac Disease Diagnosis and Management

    Science.gov (United States)

    Leffler, Daniel

    2012-01-01

    Celiac disease is one of the most prevalent autoimmune gastrointestinal disorders but as the case of Ms. J illustrates, diagnosis is often delayed or missed. Based on serology studies, the prevalence of celiac disease in many populations is estimated to be approximately 1% and has been increasing steadily over the last 50 years. Evaluation for celiac disease is generally straightforward, and uses commonly available serologic tests, however the signs and symptoms of celiac disease are nonspecific and highly heterogeneous making diagnosis difficult. While celiac disease is often considered a mild disorder treatable with simple dietary changes, in reality celiac disease imparts considerable risks including reduced bone mineral density, impaired quality of life, and increased overall mortality. In addition, the gluten free diet is highly burdensome and can profoundly affect patients and their families. For these reasons, care of individuals with celiac disease requires prompt diagnosis and ongoing multidisciplinary management. PMID:21990301

  17. Brain MRI and SPECT in the diagnosis of early neurological involvement in Wilson's disease

    Energy Technology Data Exchange (ETDEWEB)

    Piga, Mario; Satta, Loredana; Serra, Alessandra; Loi, Gianluigi [Policlinico Universitario, University of Cagliari, Nuclear Medicine, Department of Medical Science, Monserrato, Cagliari (Italy); Murru, Alessandra; Demelia, Luigi [Policlinico Universitario, University of Cagliari, Gastroenterology, Department of Medical Science, Monserrato, Cagliari (Italy); Sias, Alessandro [Policlinico Universitario, University of Cagliari, Radiology, Department of Medical Science, Monserrato, Cagliari (Italy); Marrosu, Francesco [Policlinico Universitario, University of Cagliari, Neurology, Department of Medical Science, Monserrato, Cagliari (Italy)

    2008-04-15

    To evaluate the impact of brain MRI and single-photon emission computed tomography (SPECT) in early detection of central nervous system abnormalities in patients affected by Wilson's disease (WD) with or without neurological involvement. Out of 25 consecutive WD patients, 13 showed hepatic involvement, ten hepatic and neurological manifestations, and twp hepatic, neurological, and psychiatric symptoms, including mainly movement disorders, major depression, and psychosis. Twenty-four healthy, age-gender matched subjects served as controls. All patients underwent brain MRI and {sup 99m}Tc-ethyl-cysteinate dimer (ECD) SPECT before starting specific therapy. Voxel-by-voxel analyses were performed using statistical parametric mapping to compare differences in {sup 99m}Tc-ECD brain uptake between the two groups. Brain MRI showed T2-weighted hyperintensities in seven patients (28%), six of whom were affected by hepatic and neurological forms. Brain perfusion SPECT showed pathological data in 19 patients (76%), revealing diffuse or focal hypoperfusion in superior frontal (Brodmann area (BA) 6), prefrontal (BA 9), parietal (BA 40), and occipital (BA 18, BA 39) cortices in temporal gyri (BA 37, BA 21) and in caudatus and putamen. Moreover, hepatic involvement was detected in nine subjects; eight presented both hepatic and neurological signs, while two exhibited WD-correlated hepatic, neurological, and psychiatric alterations. All but one patient with abnormal MRI matched with abnormal ECD SPECT. Pathologic MRI findings were obtained in six out of ten patients with hepatic and neurological involvement while abnormal ECD SPECT was revealed in eight patients. Both patients with hepatic, neurological, and psychiatric involvement displayed abnormal ECD SPECT and one displayed an altered MRI. These findings suggest that ECD SPECT might be useful in detecting early brain damage in WD, not only in the perspective of assessing and treating motor impairment but also in evaluating

  18. Early Lung Cancer Diagnosis by Biosensors

    Directory of Open Access Journals (Sweden)

    Lianhui Wang

    2013-07-01

    Full Text Available Lung cancer causes an extreme threat to human health, and the mortality rate due to lung cancer has not decreased during the last decade. Prognosis or early diagnosis could help reduce the mortality rate. If microRNA and tumor-associated antigens (TAAs, as well as the corresponding autoantibodies, can be detected prior to clinical diagnosis, such high sensitivity of biosensors makes the early diagnosis and prognosis of cancer realizable. This review provides an overview of tumor-associated biomarker identifying methods and the biosensor technology available today. Laboratorial researches utilizing biosensors for early lung cancer diagnosis will be highlighted.

  19. [Diagnosis of functional bowel diseases].

    Science.gov (United States)

    Kruis, W

    2007-02-28

    Functional bowel disorders cause frequent doctor visits. The term comprises various disease entities. Most frequent are the irritable bowel syndrome, functional constipation and functional diarrhea. An exact history plays an outstanding role for the diagnosis of all these entities. History either confirms a positive diagnosis or initiates some complementary investigations. Redundant and dangerous technical procedures should be avoided in the diagnostic work up.

  20. Heart Disease: Symptoms, Diagnosis, Treatment

    Science.gov (United States)

    ... Past Issues Cover Story Heart Health Heart Disease: Symptoms, Diagnosis, Treatment Past Issues / Winter 2009 Table of Contents ... to view a larger version of the image Symptoms It is very important to learn the signs ...

  1. Ebola Virus Disease: Rapid Diagnosis and Timely Case Reporting are Critical to the Early Response for Outbreak Control.

    Science.gov (United States)

    Stamm, Lola V

    2015-09-01

    Ebola virus disease (EVD) is a life-threatening zoonosis caused by infection with the Ebola virus. Since the first reported EVD outbreak in the Democratic Republic of the Congo, several small outbreaks have been reported in central Africa with about 2,400 cases occurring between 1976 and 2013. The 2013-2015 EVD outbreak in west Africa is the first documented outbreak in this region and the largest ever with over 27,000 cases and more than 11,000 deaths. Although EVD transmission rates have recently decreased in west Africa, this crisis continues to threaten global health and security, particularly since infected travelers could spread EVD to other resource-limited areas of the world. Because vaccines and drugs are not yet licensed for EVD, outbreak control is dependent on the use of non-pharmaceutical interventions (e.g., infection control practices, isolation of EVD cases, contact tracing with follow-up and quarantine, sanitary burial, health education). However, delays in diagnosing and reporting EVD cases in less accessible rural areas continue to hamper control efforts. New advances in rapid diagnostics for identifying presumptive EVD cases and in mobile-based technologies for communicating critical health-related information should facilitate deployment of an early response to prevent the amplification of sporadic EVD cases into large-scale outbreaks. © The American Society of Tropical Medicine and Hygiene.

  2. Brain glucose metabolism in the early and specific diagnosis of Alzheimer's disease. FDG-PET studies in MCI and AD

    Energy Technology Data Exchange (ETDEWEB)

    Mosconi, Lisa [University of Florence, Department of Clinical Pathophysiology, Nuclear Medicine Unit (Italy); University School of Medicine, Center for Brain Health, MHL400, Department of Psychiatry New York, New York, NY (United States)

    2005-04-01

    The demographics of aging suggest a great need for the early diagnosis of dementia and the development of preventive strategies. Neuropathology and structural MRI studies have pointed to the medial temporal lobe (MTL) as the brain region earliest affected in Alzheimer's disease (AD). MRI findings provide strong evidence that in mild cognitive impairments (MCI), AD-related volume losses can be reproducibly detected in the hippocampus, the entorhinal cortex (EC) and, to a lesser extent, the parahippocampal gyrus; they also indicate that lateral temporal lobe changes are becoming increasingly useful in predicting the transition to dementia. Fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET) imaging has revealed glucose metabolic reductions in the parieto-temporal, frontal and posterior cingulate cortices to be the hallmark of AD. Overall, the pattern of cortical metabolic changes has been useful for the prediction of future AD as well as in distinguishing AD from other neurodegenerative diseases. FDG-PET on average achieves 90% sensitivity in identifying AD, although specificity in differentiating AD from other dementias is lower. Moreover, recent MRI-guided FDG-PET studies have shown that MTL hypometabolism is the most specific and sensitive measure for the identification of MCI, while the utility of cortical deficits is controversial. This review highlights cross-sectional, prediction and longitudinal FDG-PET studies and attempts to put into perspective the value of FDG-PET in diagnosing AD-like changes, particularly at an early stage, and in providing diagnostic specificity. The examination of MTL structures, which has so far been exclusive to MRI protocols, is then examined as a possible strategy to improve diagnostic specificity. All told, there is considerable promise that early and specific diagnosis is feasible through a combination of imaging modalities. (orig.)

  3. Classification, disease, and diagnosis.

    Science.gov (United States)

    Jutel, Annemarie

    2011-01-01

    Classification shapes medicine and guides its practice. Understanding classification must be part of the quest to better understand the social context and implications of diagnosis. Classifications are part of the human work that provides a foundation for the recognition and study of illness: deciding how the vast expanse of nature can be partitioned into meaningful chunks, stabilizing and structuring what is otherwise disordered. This article explores the aims of classification, their embodiment in medical diagnosis, and the historical traditions of medical classification. It provides a brief overview of the aims and principles of classification and their relevance to contemporary medicine. It also demonstrates how classifications operate as social framing devices that enable and disable communication, assert and refute authority, and are important items for sociological study.

  4. Early Diagnosis and Treatment of Coronary Heart Disease in Symptomatic Subjects With Advanced Vascular Atherosclerosis of the Carotid Artery (Type III and IV b Findings Using Ultrasound)

    Science.gov (United States)

    Adams, Ansgar; Bojara, Waldemar; Schunk, Klaus

    2017-01-01

    Background A study was conducted as to whether the early diagnosis of coronary heart disease (CHD) in symptomatic patients with advanced atherosclerosis of the carotid artery was more successful using ultrasound technology than exercise electrocardiography (ECG). Methods Within the scope of an occupational screening program using subjects from diverse employment sectors, people were given the opportunity to determine their risk of heart attack. During the study, the total plaque area (TPA), the maximum plaque thickness in the carotid artery and the PROCAM scores of 3,513 healthy men and 2,088 healthy women between the ages of 20 and 65 were determined. During the subsequent follow-up study, 36 subjects developed symptoms such as exertional dyspnea, atypical angina pectoris (AP) or typical AP. Four patients displayed no symptoms. The initial cardiac diagnostic testing was conducted on 31 patients using an exercise ECG, four patients were assessed using a coronary angiogram, and five further patients were assessed using a computed tomography (CT) coronary angiogram. An ultrasound examination of the carotid artery of 39 patients revealed a type IV b finding and in one patient, the examination revealed a type III finding. Results In 17 patients, the PROCAM score was 20%. In the final analysis, only two patients had entirely smooth coronary arteries, seven had coronary sclerosis, seven had a 30% stenosis, one had a 30-40% stenosis, one had a 40% stenosis, and 22 patients had a stenosis ≥ 50%, and in extreme cases, a left main coronary artery stenosis with three-vessel disease was shown. The exercise ECG only achieved a true positive result in four patients, and in 21 patients, the result was false negative. Conclusions Symptomatic patients with advanced atherosclerosis of the carotid artery (type III and type IV b findings) had a high risk for CHD. The diagnosis of CHD is better achieved by using carotid duplex than with an exercise ECG. Early treatment of the disease

  5. 帕金森病早期诊断之生物学标记物%Early Diagnosis Biomarkers of Parkinson's Disease

    Institute of Scientific and Technical Information of China (English)

    梁杨; 顾英; 孙亚南; 李晓红

    2014-01-01

    Parkinson's disease is a neurodegenerative disease in the elderly ,which is also the most common extrapyramidal disease in the elderly .The pathological features are nigra dopamine neurons degeneration and Lewy body forming .The main clinical symptoms include motor symptoms and nonmotor symptoms .At present ,Parkinson's disease is still lack of the most direct and effective diagnosis method ,so blood biochemicalmarkers ,cerebrospinal fluid biochemicalmarkers , functional neuro-imaging and genomics become new methods for early diagnosis of Parkinson's disease .%帕金森病是老年人神经系统变性疾病之一,也是老年人最常见的锥体外系疾病,以黑质多巴胺能神经元变性、缺失以及路易小体形成为其主要病理特征。其临床症状主要包括运动症状及非运动症状。目前对于帕金森病仍缺乏最直接有效的诊断方法,常导致帕金森病患者错过最佳的早期诊断时机,故近年来研究发现血液生物化学标记物、脑脊液生物化学标记物、功能神经影像学、基因学等有望成为帕金森病早期诊断的新方法,故本文将对此逐一进行介绍。

  6. Clinical Analysis of Early Diagnosis of Atypical Kawasaki Disease%早期诊断不典型川崎病的临床分析

    Institute of Scientific and Technical Information of China (English)

    张利

    2013-01-01

    Objective:To research the early clinical diagnosis method of atypical kawasaki disease. Methods:The clinical datas of 22 children with atypical kawasaki disease were retrospectively analyzed, and compared with the diagnosis standard of kawasaki disease. The pathogenic factors, clinical symptoms, pathological examination and symptomatic treatment were summed up. Results:All sick children had fever symptom, and had 2~3 items of typical kawasaki disease diagnosis standard. At the same time, 14 cases had 3 items, which accounted for 63.6%;8 cases had 2 items, which accounted for 36.4%;Among them, 20 patients (90.9%) had skin rash symptoms, which accounted the top three. 16 cases had fingers peeling, accounted for 72.7%, and 15 cases (68.2%) had myrica rubra tongue, lips red, dry and cracked;The top three of pathologic examination in children:22 cases coronary artery expansion, accounting 100%, 21 cases (95.5%) showed high white blood cell count, and high CRP in 18 cases, accounting for 81.8%. Among them, the earliest was characterized by high WBC count and increased ESR. Conclusions:Atypical kawasaki disease due to the onset of symptoms is not obvious, easy to be missed diagnosis or misdiagnosis. Atypical kawasaki disease shall comply with 2~3 items of clinical diagnosis standards of kawasaki disease, and can be confirmed by combining the pathological mri and echocardiography comprehensive diagnosis.%目的:探讨不典型川崎病的早期临床诊断方法。方法:回顾性分析22例不典型川崎病患儿的临床资料,与川崎病的诊断标准进行比较,总结其发病情况、临床症状、病理检查和对症治疗特点。结果:患儿均有发热症状,具备典型川崎病诊断标准的2~3项,同时具备3项的有14例,占63.6%,具备2项的有8例,占36.4%;其中,前三位症状为皮疹20例,占90.9%,指端脱皮16例,占72.7%,杨梅舌、口唇发红、干燥并皲裂15例,占68.2%;患儿病理检查异常前三位

  7. Prenatal diagnosis of congenital diseases

    NARCIS (Netherlands)

    M.F. Niermeijer (Martinus)

    1975-01-01

    textabstractPrenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a

  8. Disease, diagnosis or syndrome?

    Science.gov (United States)

    Pearce, J M S

    2011-04-01

    The advance of medical semantics is, in general, towards causation. As knowledge increases, the common consequence is the re-definition of disease. This starts with symptoms then a disorder of structure or function, abnormalities of images, genetics or biochemistry, the ultimate aim being a specific aetiological mechanism which replaces broader descriptions. But medical terminology of diseases, diagnoses and syndromes is inherently imprecise. Careless nomenclature causes confused dialogue and communication. Symptoms of uncertain cause are commonly lumped together and given a new 'diagnostic' label which also may confuse and produce false concepts that stultify further thought and research. Such medicalisation of non-specific aggregations of symptoms should be avoided. The defining characteristics of diseases and diagnoses should be validated and agreed. The pragmatic diagnoses of 'symptom of unknown cause' or 'non-disease' are preferable to falsely labelling patients with obscure or non-existent diseases. "I tried to unveil the stillness of existence through a counteracting murmur of words, and, above all, I confused things with their names: that is belief." Jean-Paul Sartre (The Words, 1964).

  9. 帕金森病早期诊断的生物学标志物%Biomarkers in the early diagnosis of Parkinson's disease

    Institute of Scientific and Technical Information of China (English)

    孙倩; 陈伟; 陈生弟

    2013-01-01

    帕金森病是一种慢性进行性中枢神经系统退行性疾病.早在临床前期尚未出现典型临床症状时,帕金森病患者即已出现神经系统退行性病变.因此,如果能在退行性病变早期及时明确诊断并予以治疗,将会减缓疾病进程,提高患者生活质量.虽然目前尚未发现早期诊断帕金森病的理想标志物,但是已有许多生物学标志物具有研究和应用前景.%Parkinson's disease (PD) is a chronic and progressive neurodegenerative disorder.It has become clear that PD can have a preclinical phase,a period during which neurodegeneration has already begun years before the onset of typical motor symptoms.Consequently,if the early neurodegeneration in PD can be timely diagnosed,it will significantly slow down the progression of the disease and improve the quality of life.To date,there is no fully reliable and validated biomarker for the early diagnosis of PD,but some promising biomarker candidates exist.

  10. Detection of serum Cys C and Hcy as well as urine mindin and NAG contents in patients with diabetic nephropathy and the value for early diagnosis of disease

    Institute of Scientific and Technical Information of China (English)

    Qiang Wang

    2016-01-01

    Objective:To study the serum Cys C and Hcy as well as urine mindin and NAG contents in patients with diabetic nephropathy and the value for early diagnosis of disease.Methods:Patients with diabetic nephropathy and patients with diabetes alone were selected for study, serum was collected to detect Cys C, Hcy, PGF-2α, MDA, AOPP, SOD, GSH-Px and VitE contents, and urine was collected to detect mindin, NAG, MST1, JNK, Foxos, Caspase-3 and Caspase-12 contents.Results:mindin, NAG, MST1, JNK, Foxos, Caspase-3 and Caspase-12 contents in urine as well as Cys C, Hcy, PGF-2α, MDA and AOPP contents in serum of patients with diabetic nephropathy were significantly higher than those of patients with diabetes alone, and SOD, GSH-Px and VitE contents in serum were significantly lower than those of patients with diabetes alone; the higher the CKD stage, the higher the mindin, NAG, MST1, JNK, Foxos, Caspase-3 and Caspase-12 contents in urine as well as Cys C, Hcy, PGF-2α, MDA and AOPP contents in serum, and the lower the SOD, GSH-Px and VitE contents in serum; mindin and NAG contents in urine were positively correlated with MST1, JNK, Foxos, Caspase-3 and Caspase-12 contents; Cys C and Hcy contents in serum were positively correlated with PGF-2α, MDA and AOPP contents, and negatively correlated with SOD, GSH-Px and VitE contents.Conclusion:Cys C and Hcy in serum as well as mindin and NAG in urine of patients with diabetic nephropathy begin to increase from CKD1 stage, are closely related to cell apoptosis and oxidative stress injury, and help early diagnosis of the disease.

  11. Celiac disease: diagnosis and management.

    Science.gov (United States)

    Pelkowski, Timothy D; Viera, Anthony J

    2014-01-15

    Celiac disease is an autoimmune disorder of the gastrointestinal tract. It is triggered by exposure to dietary gluten in genetically susceptible individuals. Gluten is a storage protein in wheat, rye, and barley, which are staples in many American diets. Celiac disease is characterized by chronic inflammation of the small intestinal mucosa, which leads to atrophy of the small intestinal villi and subsequent malabsorption. The condition may develop at any age. Intestinal manifestations include diarrhea and weight loss. Common extraintestinal manifestations include iron deficiency anemia, decreased bone mineral density, and neuropathy. Most cases of celiac disease are diagnosed in persons with extraintestinal manifestations. The presence of dermatitis herpetiformis is pathognomonic for celiac disease. Diagnosis is supported by a positive tissue transglutaminase serologic test but, in general, should be confirmed by a small bowel biopsy showing the characteristic histology associated with celiac disease. The presence of human leukocyte antigen alleles DQ2, DQ8, or both is essential for the development of celiac disease, and can be a useful genetic test in select instances. Treatment of celiac disease is a gluten-free diet. Dietary education should focus on identifying hidden sources of gluten, planning balanced meals, reading labels, food shopping, dining out, and dining during travel. About 5% of patients with celiac disease are refractory to a gluten-free diet. These patients should be referred to a gastroenterologist for reconsideration of the diagnosis or for aggressive treatment of refractory celiac disease, which may involve corticosteroids and immunomodulators.

  12. Improved early diagnosis of acute inflammatory skeletal-articular diseases in children: A two-radiopharmaceutical approach

    Energy Technology Data Exchange (ETDEWEB)

    Handmaker, H.; Giammona, S.T.

    1984-05-01

    The febrile child with a painful bone or joint still presents a difficult pediatric diagnostic problem. Acute hematogenous osteomyelitis, septic arthritis, and cellulitis are the most common causes of this symptom. Thirty-seven patients with these disorders were studied. Because findings from technetium-99m phosphate bone scans and roentgenograms are often normal in patients in the early stages of acute hematogenous osteomyelitis, children suspected of having this disorder were tested using gallium-67 citrate scans in addition to the other diagnostic procedures. The increased diagnostic accuracy of this approach over that of bone scan and roentgenogram studies alone was observed in the children with fever and bone or joint pain.

  13. [Early diagnosis of hip dysplasia. Crippling disease for life. Consensus of the Mexican College of Orthopedics and Traumatology].

    Science.gov (United States)

    Cymet-Ramírez, J; Alvarez-Martínez, M M; García-Pinto, G; Frías-Austria, R; Meza-Vernis, A; Rosales-Muñoz, M E; Isunza-Ramírez, A; Isunza-Alonso, O D; Brito-Ramírez, J A; Anaya-García, M; Lizalde-Yañez, A

    2011-01-01

    The developmental dysplasia of the hip (DDH), where the spectrum of deformity varies from a slight mismatch in the articular surfaces between the ilium and femur, which will bring a premature wear of the joint, until the situation more serious when the femoral head is out of the acetabulum, causing a host of disorders side as curvature of the spine, significant shortening of the limb deformities in the knee and the contralateral hip, as well as causing pain and loss of joint mobility mentioned. All this makes the spectrum of abnormalities in a person being disabled with a social and economic burden for the family and society. "Preventing" a clinical entity such as developmental dysplasia of the hip does not mean to anticipate the presentation, because children continue to be born with this problem, but to have a program for early detection and early treatment and thus prevent the occurrence. The goal of this study was to provide the medical community that timely tool for prevention. When diagnosed and treated in a timely and favorable prognosis qualified for motor function and quality of life.

  14. Clinical diagnosis of metabolic and cardiovascular risks in overweight children: early development of chronic diseases in the obese child.

    Science.gov (United States)

    l'Allemand-Jander, D

    2010-12-01

    Childhood overweight (body mass index (BMI)>90th centile) poses a major public health problem in so far as adult diseases manifest themselves already during childhood. In this review, after examining the prevalence of metabolic and cardiovascular diseases, the issue of whether BMI or other clinical parameters are valid tools to predict co-morbidities in children is discussed. Data of 2001-2008 are reviewed, including several studies conducted on more than 260,000 overweight and obese children in Germany and Switzerland. Apart from non-metabolic co-morbidities, namely musculoskeletal complications and attention deficit/hyperactivity disorders in up to 74% and up to 58% of overweight children, respectively, at least one cardiovascular and metabolic risk factor was seen in 52% of the overweight children, mostly high blood pressure (35%) with increased left ventricular mass or arterial stiffness. Signs of fatty liver disease or dyslipidemia were found in up to 29 and 32% of the children, respectively. Type 2 diabetes was found in less than 0.7% of the children, and an elevated fasting glucose or glucose intolerance in 3%. Irrespective of BMI, the quality of fat and protein intake predicted hypertension or insulin resistance, and fructose predicted lower (and more atherogenic) particle size of low-density lipoprotein-cholesterol. Out of the adiposity markers, waist circumference was closely correlated with insulin resistance and the components of the metabolic syndrome. In conclusion, risk factors are found in more than half of the overweight children, most frequently high blood pressure or dyslipidemia, and were mainly related to waist circumference, but also to BMI and fat mass. Even in the presence of normal BMI, screening for cardiovascular risk factors is advocated in each child with elevated waist circumference, but its cut-off points still remain to be validated. The increased occurrence of orthopedic and psychiatric complaints may detrimentally influence health

  15. Diagnosis of incomplete Kawasaki disease

    Directory of Open Access Journals (Sweden)

    Jeong Jin Yu

    2012-03-01

    Full Text Available Several authors suggested that the clinical characteristics of incomplete presentation of Kawasaki disease are similar to those of complete presentation and that the 2 forms of presentation are not separate entities. Based on this suggestion, a diagnosis of incomplete Kawasaki disease in analogy to the findings of complete presentation is reasonable. Currently, the diagnosis of incomplete Kawasaki disease might be made in cases with fewer classical diagnostic criteria and with several compatible clinical, laboratory or echocardiographic findings on the exclusion of other febrile illness. Definition of incomplete presentation in which coronary artery abnormalities are included as a necessary condition, is restrictive and specific. The validity of the diagnostic criteria of incomplete presentation by the American Heart Association should be thoroughly tested in the immediate future.

  16. Transcranial Ultrasound in the Diagnosis of Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Aniley Martínez González

    2014-10-01

    Full Text Available Parkinson’s disease is the second most common neurodegenerative disorder and, since it is associated with aging, the probability of developing this disease increases with age. The diagnosis of idiopathic Parkinson’s disease is based on clinical criteria; however, its differentiation from other forms of Parkinsonism can be difficult, especially in early stages of the disease. Transcranial ultrasound has become a tool for the diagnosis of this disorder, being very useful for its early diagnosis. Ultrasonographic findings characteristic of this disease include increased echogenicity of the substantia nigra in the midbrain measured through the temporal bone window. This paper discusses the usefulness of transcranial ultrasound for early diagnosis of patients with Parkinson's disease.

  17. Cerebrotendinous xanthomatosis: Need for early diagnosis

    Directory of Open Access Journals (Sweden)

    Muhammed K

    2006-01-01

    Full Text Available Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestanol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive neurological defects and premature death from arteriosclerosis. The primary biochemical defect is deficiency of hepatic mitochondrial enzyme sterol-27-hydroxylase which catalyses the hydroxylation of cholestanol (5-alpha dehydro derivative of cholesterol and this deficiency decreases bile acid synthesis. Substantial elevation of serum cholestanol and urinary bile alcohols with low to normal plasma cholesterol concentration establishes the diagnosis. Cerebrotendinous xanthomatosis is exceptionally rare in the Indian population. We are reporting a woman with this rare disorder, who was on antiepileptic and antipsychotic drugs for a prolonged period and whose original condition went undiagnosed. She presented with xanthomas on the Achilles tendons and the upper end of tibia. She was mentally subnormal and her serum cholestanol level was raised. Her younger sister too was severely affected by this disorder. Early treatment with chenodeoxycholic acid is known to prevent disease progression.

  18. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

    Directory of Open Access Journals (Sweden)

    Suhrad G Banugaria

    Full Text Available OBJECTIVE: Although enzyme replacement therapy (ERT is a highly effective therapy, CRIM-negative (CN infantile Pompe disease (IPD patients typically mount a strong immune response which abrogates the efficacy of ERT, resulting in clinical decline and death. This study was designed to demonstrate that immune tolerance induction (ITI prevents or diminishes the development of antibody titers, resulting in a better clinical outcome compared to CN IPD patients treated with ERT monotherapy. METHODS: We evaluated the safety, efficacy and feasibility of a clinical algorithm designed to accurately identify CN IPD patients and minimize delays between CRIM status determination and initiation of an ITI regimen (combination of rituximab, methotrexate and IVIG concurrent with ERT. Clinical and laboratory data including measures of efficacy analysis for response to ERT were analyzed and compared to CN IPD patients treated with ERT monotherapy. RESULTS: Seven CN IPD patients were identified and started on the ITI regimen concurrent with ERT. Median time from diagnosis of CN status to commencement of ERT and ITI was 0.5 months (range: 0.1-1.6 months. At baseline, all patients had significant cardiomyopathy and all but one required respiratory support. The ITI regimen was safely tolerated in all seven cases. Four patients never seroconverted and remained antibody-free. One patient died from respiratory failure. Two patients required another course of the ITI regimen. In addition to their clinical improvement, the antibody titers observed in these patients were much lower than those seen in ERT monotherapy treated CN patients. CONCLUSIONS: The ITI regimen appears safe and efficacious and holds promise in altering the natural history of CN IPD by increasing ERT efficacy. An algorithm such as this substantiates the benefits of accelerated diagnosis and management of CN IPD patients, thus, further supporting the importance of early identification and treatment

  19. ALZHEIMER’S DISEASE: DIAGNOSIS AND TREATMENT

    Directory of Open Access Journals (Sweden)

    A. A. Naumenko

    2016-01-01

    Full Text Available Early diagnosis of Alzheimer's disease (AD is one of the most important tasks of modern medicine. Even before its obvious clinical symptoms develop, AD can be now identified from the data of functional neuroimaging, including that with the Pittsburgh compound, which can detect amyloid protein accumulation in the brain structures, and from those of an analysis of biomarkers in the cerebrospinal fluid. If there are clinical symptoms, a diagnosis can be established by the correct evaluation of mnestic disorders; the latter in BA are so-called hippocampal. Treatment for AD should be initiated as early as possible; methods for pathogenetic therapy are being actively developed. When treating AD, one should adhere to a comprehensive approach involving the use of drugs for basic symptomatic treatment and those enhancing its efficiency, and non-drug treatments (cognitive and motor training. It is important to timely identify and eliminate potentially reversible conditions and to work with caregivers and guardians.

  20. New Method for Early Cancer Diagnosis

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    @@ The NSFC funded Key Program project"A real-time analysis of the early diagnosis of cancer mark-ers",undertaken by Changchun Institute of Applied Chemistry,Chinese Academy of Sciences (CAS),re-cently received recognition from an expert team for assessment.Experts pointed out that the research was of great value for the fast ascertain of cancer markers and the early warning and diagnosis.The research team was headed by Academician Wang Erkang,CAS and Prof.Kong Jilie,Fudan University.

  1. Early x-ray diagnosis of coxarthrosis

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; Nebel, G.

    Radiological and pathological comparisons on specimen of femur head and neck at autopsy have shown a statistical relationship between osteophytosis of the femoral head and ulcerations of the joint cartilage. Especially, there are highly significant relationships between the length of osteophytes and the diameter of the ulcera. The 'plaque'-sign is shown to be a very sensitive indicator of early arthrosis. So there exist semiquantitative parameters for the X-ray diagnosis of early coxarthrosis.

  2. Potential screening and early diagnosis method for cancer: Tongue diagnosis.

    Science.gov (United States)

    Han, Shuwen; Yang, Xi; Qi, Quan; Pan, Yuefen; Chen, Yongchao; Shen, Junjun; Liao, Haihong; Ji, Zhaoning

    2016-06-01

    Tongue diagnosis, as a unique method of traditional Chinese medicine (TCM), was used to discriminate physiological functions and pathological conditions by observing the changes of the tongue and tongue coating. The aims of the present study were to explore a potential screening and early diagnosis method of cancer through evaluating the differences of the images of tongue and tongue coating and the microbiome on the tongue coating. The DS01-B tongue diagnostic information acquisition system was used to photograph and analyze the tongue and tongue coating. The next-generation sequencing technology was used to determine the V2-V4 hypervariable regions of 16S rDNA to investigate the microbiome on the tongue coating. Bioinformatics and statistical methods were used to analyze the microbial community structure and diversity. Comparing with the healthy people, the number of mirror-like tongue, thick tongue coating and the moisture of tongue were increased in cancers. The dominant color of the tongue in the healthy people was reddish while it was purple in the cancers. The relative abundance of Neisseria, Haemophilus, Fusobacterium and Porphyromonas in the healthy people were higher than that in the cancers. We also found 6 kinds of special microorganisms at species level in cancers. The study suggested that tongue diagnosis may provide potential screening and early diagnosis method for cancer.

  3. 不完全川崎病的早期诊断和临床特征%Early Diagnosis and Clinical Features of Incomplete Kawasaki Disease in Children

    Institute of Scientific and Technical Information of China (English)

    罗泽民; 樊映红; 刘德松

    2011-01-01

    Objective To explore the early diagnosis and clinical features of incomplete Kawasaki disease (IKD) in children,in order to promote early diagnosis,reduce or avoid coronary artery lesions (CAL) caused by delayed diagnosis of Kawasaki disease(KD). Methods The clinical features of 42 children with IKD and 147 children with KD collected from Jan. 2000 to Jan. 2010 were retrospectively analyzed.The data between 2 groups in age, gender,clinic features [ such as fever, iymphadenectasis, finger or toe tip desquamation, conjunctival hyperemia, hardness hydropsia, rash, oral mucosa congestion, crissum desquamation, erythema in Bacillus Calmette- Guerin (BCG) inoculation place ], laboratory examinations [ including white blood cell, hemoglobin, platelet, erythrocyte sedimentation rate, C reactive protein( CRP), albumin,alanine aminotransferase and serum sodium] ,heart color Doppler examine and electrocardiogram were analyzed by SPSS 17.0 software. Results There was no difference in gender between IKD group and KD group, but IKD group had younger age of onset and longer persistence time of fever. IKD group had lower incidence of extremity hardness hydropsia, oral mucosa congestion, conjunctival hyperemia and rash in the acute stage. Erythema in BCG inoculation appeared often in KD group. IKD group had higher white blood count and CRP. There was not statistical difference in abnormal electrocardiogram between 2 groups, but IKD group had higher CAL incidence rate. Conclusions IKD children have higher incidence of CAL. Lower onset age, longer persistence of fever, erythema in BCG inoculation place, and obvious WBC and CRP rise are helpful for diagnosis of IKD. As early as possible complete laboratory examination is very important to reduce delayed diagnosis and avoid CAL.%目的 探讨不完全川崎病(IKD)的早期诊断和临床特征,以提高川崎病(KD)的早期诊断率,减少KD延迟诊断及冠状动脉病变(CAL)的发生.方法 对2000年1月-2010年1月收治的42

  4. Early diagnosis of Alzheimer's disease. Clinical significance and future perspectives; Alzheimer - schon Jahre vor den ersten Symptomen erkennbar? Wie Sie die beginnende Demenz anhand von klinischen Zeichen erfassen

    Energy Technology Data Exchange (ETDEWEB)

    Buerger, K.; Teipel, S.J.; Hampel, H. [Muenchen Univ. (Germany). Psychiatrische Klinik und Poliklinik

    2000-04-20

    Early diagnosis of Alzheimer's disease describes the recognition and diagnosis in patients with very mild dementia. Internationally accepted diagnostic criteria support the diagnosis based on clinical evaluation. Recent advances in structural and functional neuroimaging as well as studies on specific proteins in the cerbro-spinal fluid that are related to distinct pathophysiological disease processes are most promising approaches to defining biological markers of Alzheimer's disease. (orig.) [German] Der Begriff 'Fruehdiagnose' der Alzheimer-Demenz (AD) bedeutet, das Demenzsyndrom moeglichst fruehzeitig, im beginnenden, klinisch fassbaren Stadium zu erkennen und diagnostisch exakt einzuordnen. Dazu empfiehlt es sich, nach international geltenden diagnostischen Leitlinien vorzugehen. Zentrale Grundlage der Diagnostik ist die klinisch-aerztliche Beurteilung. Viel versprechende Zukunftsperspektiven ergeben sich aktuell durch Fortschritte der strukturellen und funktionellen Bildgebung sowie der Liquorforschung. (orig.)

  5. Cystic lung disease: Achieving a radiologic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Trotman-Dickenson, Beatrice, E-mail: btrotmandickenson@partners.org

    2014-01-15

    Diffuse cystic lung disease represents a diverse group of uncommon disorders with characteristic appearance on high resolution CT imaging. The combination of imaging appearance with clinical features and genetic testing where appropriate permits a confident and accurate diagnosis in the majority of the diseases without recourse for open lung biopsy. The mechanism of cyst development disease is unclear but in some disorders appears to be related to small airways obstruction. These diseases are incurable, with the exception of Langerhans cell histiocytosis which may spontaneously remit or resolve on smoking cessation. Disease progression is unpredictable; in general older patients have a more benign disease, while young patients may progress rapidly to respiratory failure. An understanding of the complications of cystic lung disease and the appearance of disease progression is essential for the management of these patients. A number of these disorders are associated with malignancy, recognition of the potential tumors permits appropriate imaging surveillance. Due to the widespread use of CT, pulmonary cysts are increasingly discovered incidentally in an asymptomatic individual. The diagnostic challenge is to determine whether these cysts represent an early feature of a progressive disease or have no clinical significance. In the elderly population the cysts are unlikely to represent a progressive disease. In individuals <50 years further evaluation is recommended.

  6. Early diagnosis of masked hypertension in adolescents

    Directory of Open Access Journals (Sweden)

    Ledyaev M.Ya.

    2016-12-01

    Full Text Available Objective: to improve diagnosis of latent arterial hypertension by studying the characteristics of hemodynamics and the rigidity of the vascular walls of the arteries in adolescents with this phenomenon. Material and Methods. The study involved 147 children aged 11 to 18 years who did not have heart rhythm disorders, congenital heart defects, endocrine diseases and diseases of the kidneys. They were divided into three groups on the basis of blood pressure values (BP obtained during three measurements of blood pressure according to the method of N. S. Korotkov and when conducting 24-hours ambulatory blood pressure monitoring (ABPM. Group 1 included children with blood pressure values in the range from 5 to 95 percentile. Group 2 was composed children with masked hypertension (values of office blood pressure in the range from 5 to 95 percentile but indicators of ABPM of blood pressure is greater than 95 percentile. Group 3 included children with stable arterial hypertension (blood pressure values exceeded the 95 percentile. The study was a comparative analysis of the hemodynamic and rigidity (stiffness of the arteries. Results: Most hemodynamic parameters in children with masked hypertension were higher than in children of group 1. However, these figures were lower than in children with stable arterial hypertension. Among the indicators of the rigidity of the arteries, the most sensitive indicator (dP/dt max was maximum rate of pressure rise. Children with masked hypertension had increased arterial stiffness, however it was lower than in children with stable arterial hypertension. Conclusion: The use of BPLab monitor with technology Vasotens allows physicians to evaluate the daily profile of arterial pressure, the hemodynamics and stiffness of blood vessels, which is an important step for early diagnostics of latent arterial hypertension in children

  7. Early differential diagnosis between Alzheimer's disease and dementia with Lewy bodies: Comparison between (18)F-FDG PET and (123)I-IMP SPECT.

    Science.gov (United States)

    Chiba, Yuhei; Iseki, Eizo; Fujishiro, Hiroshige; Ota, Kazumi; Kasanuki, Koji; Suzuki, Masaru; Hirayasu, Yoshio; Arai, Heii; Sato, Kiyoshi

    2016-03-30

    Both (18)F-fluorodeoxyglucose (FDG) positron emission tomography (PET) and (123)I-iodoamphetamine (IMP) single-photon emission computed tomography (SPECT) have been used for the differential diagnosis of Alzheimer's disease (AD) and dementia with Lewy bodies (DLB). Less information is available, however, regarding the differential diagnosis of mild cognitive impairment (MCI) due to AD and MCI due to DLB. We examined nine AD patients (AD group), nine DLB patients (DLB group), eight MCI due to AD patients (MCI-AD group), and nine MCI due to DLB patients (MCI-DLB group) with FDG PET and IMP SPECT using a well-characterized normal database and a stereotactic extraction estimation method. In the AD and DLB groups, receiver operating characteristic (ROC) analysis in the occipital regions showed significant accuracy of both FDG PET and IMP SPECT for the differential diagnosis. In the MCI-AD and MCI-DLB groups, ROC analysis showed significant accuracy of only FDG PET for the differential diagnosis. Both FDG PET and IMP SPECT would be useful for the differential diagnosis between AD and DLB. For the differential diagnosis of MCI-AD versus MCI-DLB, FDG PET would be more useful than IMP SPECT.

  8. The early diagnosis of lung cancer.

    Science.gov (United States)

    Petty, T L

    2001-06-01

    Lung cancer is the most common fatal malignancy in both men and women, both in the United States and elsewhere in the world. Today, lung cancer is most often diagnosed on the basis of symptoms of advanced disease or when chest x-rays are taken for a variety of purposes unrelated to lung cancer detection. Unfortunately, in the United States no society or governmental agency recommends screening, even for patients with high risks, such as smokers with airflow obstruction or people with occupational exposures, including asbestos. The origins of this negative attitude toward lung cancer screening are found in 3 studies sponsored by the National Cancer Institute in the mid-1970s and conducted at Johns Hopkins University School of Medicine, the Mayo Clinic, and the Memorial Sloan-Kettering Center. These studies concluded that early identification of lung cancer through chest x-rays and cytologic diagnosis of sputum did not alter disease-specific mortality. However, patients with earlier stage disease were found through screening, which resulted in a higher resectability rate and improved survival in the screening group compared with a control group of patients receiving ordinary care. Patients in the control group often received annual chest x-rays during the course of this study, which was the standard of care at the time. Thus no true nonscreening control group resulted. The patients at highest risk were not enrolled in this study. No specific amount of pack-years of smoking intensity was required. Only men were screened. The studies were inadequately powered to show an improvement in mortality rate of less than 50%. Ninety percent of lung cancer occurs in smokers. The prevalence of lung cancer is 4 to 6 times greater when smokers have airflow obstruction than with normal airflow, when all other background factors, including smoking history, occupational risk, and family history, are the same. Screening heavy smokers (ie, > or = 30 pack-years) with airflow obstruction

  9. 唾液和唾液组学与疾病早期诊断%Saliva and salivaomics in early diagnosis of diseases

    Institute of Scientific and Technical Information of China (English)

    程兴群; 邓盟; 徐欣; 周学东

    2014-01-01

    Saliva is mainly composed of secretions from salivary glands, gingival crevicular fluid, and mucosal transudate. Saliva provides genetic information originating from DNA or RNA of human oral microorganisms located in oral local tissue and other parts of the body. Saliva has an important role in systematically detecting changes of messenger RNA(mRNA) or proteins. As a non-invasive source of complex genetic information of human and oral microbes, extensive studies on saliva have been conducted, such as salivary genomics, transcriptomics, proteomics, microbiomics, metabolomics and miRNA. This review summarized the latest developments of salivaomics and addressed the potential value of saliva in the early diagnosis of oral diseases, such as dental caries, periodontal disease, Sjögren syndrome, oral cancer, head and neck tumors, oral candidiasis and other systemic disorders or viral infections.%唾液是由唾液腺分泌液、龈沟液和黏膜渗出液等构成的混合性液体,储存了大量的人类口腔微生物和口腔局部组织以及身体其他部位感染微生物和病毒的RNA和DNA等基因信息,是系统性检测信使核糖核酸和蛋白质变化的重要物质。唾液采集具有非侵袭性,受试者基本无痛苦和不适,有较高的可重复性,安全而廉价,因此唾液组学在世界范围内引起了人们的浓厚兴趣。本文就唾液在疾病早期诊断中的优势,唾液基因组学、唾液转录组学、唾液蛋白质组学、唾液微生物组学、唾液代谢组学和唾液微小RNA研究,龋病标志物、牙周病标志物、舍格伦综合征标志物、口腔癌和头颈部肿瘤标志物、口腔假丝酵母菌病标志物、全身性疾病标志物、病毒感染标志物在口腔疾病和全身系统性疾病早期诊断中的作用等研究进展作一综述。

  10. PROBLEM OF DIAGNOSIS OF EARLY CONGENITAL SYPHILIS

    Directory of Open Access Journals (Sweden)

    G. P. Martynova

    2013-01-01

    Full Text Available The paper presents a case of delayed diagnosis of early congenital syphilis in a child whose mother was observed in prenatal clinic starting from the 14th week of pregnancy. The child had specific skin rash already in maternity. The child was discharged home without examination in the hospital. Only manifestations of nephritis lead to admission of the child into an inpatient hospital. Only at the age of 1 month and 23 days the child was suspected of early congenital syphilis with severe polisimptomnym, and the patient was transferred to specialized hospital. 

  11. Early diagnosis of severe combined immunodeficiency syndrome.

    OpenAIRE

    Hague, R A; Rassam, S; Morgan, G; Cant, A. J.

    1994-01-01

    Infants with severe combined immunodeficiency syndrome (SCIDS) have a greatly improved prognosis if diagnosed and treated before they develop overwhelming infection. Clinical and laboratory data on 45 patients with SCIDS were retrospectively reviewed to assess the value of absolute lymphocyte counts in making an early diagnosis. Ninety infants matched for age, sex, and presenting symptoms were used as controls. Thirteen (29%) infants with SCIDS were diagnosed at birth as previous siblings had...

  12. Early diagnosis and early intervention in cerebral palsy

    Directory of Open Access Journals (Sweden)

    Mijna eHadders-Algra

    2014-09-01

    Full Text Available This paper reviews the opportunities and challenges for early diagnosis and early intervention in cerebral palsy (CP. CP describes a group of disorders of the development of movement and posture, causing activity limitation, that are attributed to disturbances that occurred in the fetal or infant brain. Therefore the paper starts with a summary of relevant information from developmental neuroscience. Most lesions underlying CP occur in the second half of gestation, when developmental activity in the brain reaches its summit. Variations in timing of the damage not only result in different lesions, but also in different neuroplastic reactions and different associated neuropathologies. This turns CP into a heterogeneous entity. This may mean that the best early diagnostics and the best intervention methods may differ for various subgroups of children with CP. Next, the paper addresses possibilities for early diagnosis. It discusses the predictive value of neuromotor and neurological exams, neuro-imaging techniques and neurophysiological assessments. Prediction is best when complementary techniques are used in longitudinal series. Possibilities for early prediction of CP differ for infants admitted to neonatal intensive care and other infants. In the former group best prediction is achieved with the combination of neuro-imaging and the assessment of general movements, in the latter group best prediction is based on carefully documented milestones and neurological assessment. The last part reviews early intervention in infants developing CP. Most knowledge on early intervention is based on studies in high risk infants without CP. In these infants early intervention programs promote cognitive development until preschool age; motor development profits less. The few studies on early intervention in infants developing CP suggest that programs that stimulate all aspects of infant development by means of family coaching are most promising. More research is

  13. History of diagnosis of cardiovascular diseases

    African Journals Online (AJOL)

    Tools that are currently central to diagnosis of cardiovascular diseases are: the stethoscope, sphygmomanometer, ... clinical signs and some tests to make their diagnosis1. ... without blood, nor do they all contain the breath of life, and when ...

  14. EARLY DIAGNOSIS OF PERVASIVE DEVELOPMENTAL DISORDERS

    Directory of Open Access Journals (Sweden)

    Jelica ERCEG-DJURACIC

    1997-09-01

    Full Text Available Pervasive developmental disorders represent obviously a heterogeneous group of disorders, whose clinical expressions, courses and prospects differ significantly. Common to all these disorders, expect essential diagnostic characteristics, is the fact that they are life-long problems, thus, these are disorders without possibility of complete relief. Although measures of secondary prevention in these disorders do exert a limited effect, it is possible to achieve indubitable improvements in three fields:· well-timed application of adequate treatment may influence the essential characteristics of a disorder in the direction of adaptation to requirements of social environment, improvement of communication and enrichment of poor activity repertoire;· slowing down and delaying of unfavorable disorder evolution and· helping in understanding, accepting and adapting of child’s family to a pervasive developmental disorder.Value of early established diagnosis is not reflected only in foundation of organized adequate treatment. Early established diagnosis enables a well-timed giving of genetic advice to the family which is, as a rule, young, and without genetic load. On the other hand, well-timed diagnosis enables planning of life-long complete care for the patient with the disorder.

  15. Adaptive diagnosis of coeliac disease.

    Science.gov (United States)

    Korponay-Szabó, Ilma R; Troncone, Riccardo; Discepolo, Valentina

    2015-06-01

    Coeliac disease has for a long time simply been regarded as a gluten-dependent enteropathy and a duodenal biopsy was required in all patients for the diagnosis. It is now accepted that autoimmunity against transglutaminase 2 is an earlier, more universal and more specific feature of coeliac disease than histologic lesions. Moreover, high serum levels of combined anti-transglutaminase 2 and anti-endomysium antibody positivity have excellent predictive value for the presence of enteropathy with villous atrophy. This makes the histology evaluation of the gut no longer necessary in well defined symptomatic paediatric patients with compatible HLA-DQ2 and/or DQ8 background. The biopsy-sparing diagnostic route is not yet recommended by gastroenterologists for adults, and certain clinical circumstances (immunodeficiency conditions, extraintestinal manifestations, type-1 diabetes mellitus, age less than 2 years) may require modified diagnostic approaches. Coeliac patients with preserved duodenal villous structure do exist and these need a more extended evaluation by immunologic and molecular biology tools. Copyright © 2015 Elsevier Ltd. All rights reserved.

  16. Florbetaben PET in the Early Diagnosis of Alzheimer's Disease: A Discrete Event Simulation to Explore Its Potential Value and Key Data Gaps

    Directory of Open Access Journals (Sweden)

    Shien Guo

    2012-01-01

    Full Text Available The growing understanding of the use of biomarkers in Alzheimer's disease (AD may enable physicians to make more accurate and timely diagnoses. Florbetaben, a beta-amyloid tracer used with positron emission tomography (PET, is one of these diagnostic biomarkers. This analysis was undertaken to explore the potential value of florbetaben PET in the diagnosis of AD among patients with suspected dementia and to identify key data that are needed to further substantiate its value. A discrete event simulation was developed to conduct exploratory analyses from both US payer and societal perspectives. The model simulates the lifetime course of disease progression for individuals, evaluating the impact of their patient management from initial diagnostic work-up to final diagnosis. Model inputs were obtained from specific analyses of a large longitudinal dataset from the New England Veterans Healthcare System and supplemented with data from public data sources and assumptions. The analyses indicate that florbetaben PET has the potential to improve patient outcomes and reduce costs under certain scenarios. Key data on the use of florbetaben PET, such as its influence on time to confirmation of final diagnosis, treatment uptake, and treatment persistency, are unavailable and would be required to confirm its value.

  17. Alzheimer's Disease: Symptoms, Diagnosis and Treatment

    Science.gov (United States)

    ... page please turn Javascript on. Feature: Alzheimer's Disease Symptoms, Diagnosis and Treatment Past Issues / Fall 2010 Table of Contents Symptoms Scientists believe that changes in the brain may ...

  18. A Systematic Review of Bovine Respiratory Disease Diagnosis Focused on Diagnostic Confirmation, Early Detection, and Prediction of Unfavorable Outcomes in Feedlot Cattle.

    Science.gov (United States)

    Wolfger, Barbara; Timsit, Edouard; White, Brad J; Orsel, Karin

    2015-11-01

    A large proportion of newly arrived feedlot cattle are affected with bovine respiratory disease (BRD). Economic losses could be reduced by accurate, early detection. This review evaluates the available literature regarding BRD confirmatory diagnostic tests, early detection methods, and modalities to estimate post-therapeutic prognosis or predict unfavorable or fatal outcomes. Scientific evidence promotes the use of haptoglobin to confirm BRD status. Feeding behavior, infrared thermography, and reticulorumen boluses are promising methods. Retrospective analyses of routinely collected treatment and cohort data can be used to identify cattle at risk of unfavorable outcome. Other methods have been reviewed but require further study.

  19. Biomarkers for early detection of Alzheimer disease.

    Science.gov (United States)

    Barber, Robert C

    2010-09-01

    The existence of an effective biomarker for early detection of Alzheimer disease would facilitate improved diagnosis and stimulate therapeutic trials. Multidisciplinary clinical diagnosis of Alzheimer disease is time consuming and expensive and relies on experts who are rarely available outside of specialty clinics. Thus, many patients do not receive proper diagnosis until the disease has progressed beyond stages in which treatments are maximally effective. In the clinical trial setting, rapid, cost-effective screening of patients for Alzheimer disease is of paramount importance for the development of new treatments. Neuroimaging of cortical amyloid burden and volumetric changes in the brain and assessment of protein concentrations (eg, β-amyloid 1-42, total tau, phosphorylated tau) in cerebrospinal fluid are diagnostic tools that are not widely available. Known genetic markers do not provide sufficient discriminatory power between different forms of dementia to be useful in isolation. Recent studies using panels of biomarkers for diagnosis of Alzheimer disease or mild cognitive impairment have been promising, though no such studies have been cross-validated in independent samples of subjects. The ideal biomarker enabling early detection of Alzheimer disease has not yet been identified.

  20. Diagnosis and Differential Diagnosis in Behcet’s Disease

    Directory of Open Access Journals (Sweden)

    Osman Köse

    2009-12-01

    Full Text Available The diagnosis of Behcet’s disease is made on the basis of the criteria proposed by the International Study group for Behcet’s disease in 1990. According to the criteria, recurrent oral ulceration must be present as well as at least two of the following: Recurrent genital ulceration, eye lesions, skin lesions and a positive pathergy test. Acute/chronic oral ulcers and genital ulcers should be regarded in the differential diagnosis of Behcet’s disease. We discussed the details of different dermatologic diseases especially of prominent with oral and genital ulcers in this article.

  1. Breast cancer. Present perspective of early diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Brunner, S.

    1987-01-01

    The Third International Copenhagen Symposium on Detection of Breast Cancer afforded a further opportunity for scientists from all over the world to come together and present important papers concerning breast cancer and early diagnosis procedures. The symposium was an opportunity to learn from extensive screening procedures carried out at outstanding centers in the United States, Sweden, the Netherlands, and England. Furthermore, the symposium dealt with new modalities such as ultra-sonography, magnification techniques, and magnetic resonance; and significant contributions concerning self-examination, fine needle aspiration biopsy, and radiation risks were presented. A whole section was also dedicated to the highly important cooperation between radiologist, surgeon, and pathologist.

  2. Practical Aspects Regarding the Histopathological Diagnosis of Early Mycosis Fungoides

    Directory of Open Access Journals (Sweden)

    Tebeică T.

    2016-03-01

    Full Text Available Mycosis fungoides is the most common primary T-cell lymphoma of skin. The disease has a protean clinical and histological presentation in its early patch and plaque stages, when distinction from mimicking inflammatory dermatoses is difficult. Since no single criterion is specific enough, a reliable diagnosis in early stages requires integration of clinical, histopathological and molecular findings. In skin biopsies, the most helpful histologic features are the detection of atypical lymphocytes in the epidermis with minimal epidermal changes, basal alignment of lymphocytes along dermal-epidermal junction and formation of Pautrier microabscesses. An aberrant immunophenotype of T cells and molecular detection of a clonal T-cell population are factors that could allow a more specific diagnosis. This work recapitulates and discusses these features from a practical perspective.

  3. Early diagnosis and empiric therapy for cirrhosis associated with infection

    Directory of Open Access Journals (Sweden)

    NAN Yuemin

    2015-03-01

    Full Text Available Infection is a frequent complication of cirrhosis, which often occurs in the lungs, chest, abdomen, biliary tract, urinary tract, soft tissue, and skin, and occasionally causes spontaneous bacteremia in patients. This paper reviews the risk factors and common types of infection in cirrhosis associated with infection, and the early diagnosis and symptomatic treatment of different types of infection. Moreover, this paper points out that cirrhosis associated with infection is a key factor for disease progression and the early diagnosis and treatment are essential for successful treatment. The third-generation cephalosporins are the first-line antibiotic agents. Drug-resistant bacteria should be treated with antibiotic compound containing β-lactamase inhibitors or carbapenems. Methicillin-resistant Staphylococcus aureus should be treated with glycopeptide antibiotics or combination therapies. Pulmonary mycoses are mainly treated with caspofungin or voriconazole. Antibiotics combined with supportive therapies including the administration of albumin can improve the treatment outcome and prognosis.

  4. Early diagnosis of atherosclerosis with panoramic radiographs: a review

    Directory of Open Access Journals (Sweden)

    Daiane Landim Borba

    Full Text Available Abstract Carotid artery disease has been linked with cerebral vascular accident, also known as stroke, cerebral hemorrhage, or cerebral ischemia. It is caused by narrowing or obstruction of arteries in the neck (the carotid arteries that are responsible for transporting blood from the aorta to the brain. Panoramic radiographs are used in dentistry to show both dental arches as a supplement to the clinical dental examination. The objective of this study is to highlight the importance of panoramic radiographs for diagnosis of arterial disease, by means of a bibliographic review. The PubMed database was searched using the keywords “atherosclerosis” and “panoramic”, with the filters “last 5 years” and “humans”. Twenty articles were identified, six of which were chosen for this study because they were open access. The review concluded that panoramic radiographs enable early diagnosis of carotid artery calcification, resulting in earlier interventions, and offer an accessible cost.

  5. Early-stage [{sup 123}I]{beta}-CIT SPECT and long-term clinical follow-up in patients with an initial diagnosis of Parkinson's disease

    Energy Technology Data Exchange (ETDEWEB)

    Stoffers, Diederick [VU University Medical Center, Institute for Clinical and Experimental Neurosciences, P.O. Box 7057, MB, Amsterdam (Netherlands); Vrije Universiteit, Department of Clinical Neuropsychology, Amsterdam (Netherlands); Booij, Jan [University of Amsterdam, Department of Nuclear Medicine, Academic Medical Center (Netherlands); Bosscher, Lisette; Winogrodzka, Ania; Wolters, Erik C.; Berendse, Henk W. [VU University Medical Center, Institute for Clinical and Experimental Neurosciences, P.O. Box 7057, MB, Amsterdam (Netherlands)

    2005-06-01

    Previous studies using dopamine transporter single-photon emission computed tomography (SPECT) to try and distinguish between patients with idiopathic Parkinson's disease (IPD) and patients with atypical parkinsonian syndromes (APS) have mainly focussed on patients with an already established clinical diagnosis of several years' duration. Differences in the pattern of striatal involvement between IPD and APS have been found in only few studies. We hypothesized that distinguishing SPECT features might be most pronounced at an early disease stage, and the purpose of the present study was to investigate this hypothesis. The study included 72 patients with an initial clinical diagnosis of IPD, supported by decreased striatal [{sup 123}I]{beta}-CIT binding on baseline SPECT. In ten patients, the diagnosis was changed to APS over a mean follow-up period of 62 months. We retrospectively compared the patterns of striatal involvement on the baseline SPECT scans between the group of patients (re)diagnosed with APS and the remaining 62 patients in whom a diagnosis of IPD was maintained. In the group of patients with APS, baseline [{sup 123}I]{beta}-CIT binding in both caudate nuclei was lower than in the group of patients with IPD. In addition, putamen to caudate binding ratios were higher in the group of APS patients. In spite of these differences, individual binding values showed considerable overlap between the groups. [{sup 123}I]{beta}-CIT SPECT scanning in early-stage, untreated parkinsonian patients revealed a relative sparing of the caudate nucleus in patients with IPD as compared to patients later (re)diagnosed with APS. Nevertheless, the pattern of striatal involvement appears to have little predictive value for a later re-diagnosis of APS in individual cases. (orig.)

  6. Evaluation of procalcitonin on early diagnosis of neonatal infection disease%降钙素原对新生儿感染的早期诊断评价

    Institute of Scientific and Technical Information of China (English)

    张修侠; 吴小平

    2013-01-01

    Objective To explore the clinical application value of serum procalcitonin (PCT) detection in diagnosis of neonatal infection disease.Methods The serum PCT,CRP values,routine blood test,blood cultures of 50 children with suspected infection was detected at admission and five days after admission.According to the clinical manifestations and the test results,50 children were divided into the bacterial infection group (32 cases) of and non-bacterial infection group (18 cases),and the value of PCT,CRP,routine blood test,blood culture was compared.Results Of bacterial infection group at admission,the serum PCT values in 27 cases were more than or equal with 2μg/L,white blood cell (WBC) increased in 6 cases,CRP of 7 cases were positive,blood cultures (3d) of 4 cases were positive,and of non-bacterial infection group at admission,the serum PCT value in 2 cases were more than or equal with 2μg/L,WBC increased in 2 cases,blood cultures (3d) of 1 case was positive ; Of bacterial infection group 5 days after admission,the serum PCT value in 23 cases were more than or equal with 2μg/L,WBC increased in 15 cases,CRP of 6 cases were positive,blood culture (5d) of 9 case were positive,and of non-bacterial infection group 5 days after admission,the serum PCT value in 1 cases was more than or equal with 2μg/L,WBC increased in 3 cases,CRP of 4 cases were positive,blood culture (5d) of 1 case was positive.At admission the cases of WBC increasing,CRP positive,blood culture positive of the two groups had no statistically significant differences (x2 =0.50,0.19,0.62,all P > 0.05),but the cases of the PCT value which was more than or equal with 2μg/L had statistically significant differences between the two groups (x2 =25.30,P < 0.05).5 days after admission the cases of WBC increasing,PCT,blood culture positive of the two groups had no statistically significant differences (x2 =4.39,20.30,8.56,all P < 0.05),but the cases of the CRP value significant differences between the two

  7. Preeclampsia or initial diagnosis of chronic renal disease during pregnancy.

    Science.gov (United States)

    Iavazzo, C; Kalmantis, K; Bozemberg, T; Ntziora, F; Ioakeimidis, A; Paschalinopoulos, D

    2008-01-01

    An unusual case of early nephrotic syndrome without hypertension which slightly resolved after delivery is documented. Renal biopsy was performed postpartum and the diagnosis was focal and segmental glomerulosclerosis with moderate chronic renal changes. It is questioned whether the case was due to preeclampsia or was the initial diagnosis of chronic renal disease which was made during pregnancy. The role of renal biopsy in such cases is briefly discussed (Tab. 2, Ref. 15). Full Text (Free, PDF) www.bmj.sk.

  8. Rheumatic diseases of the spine: imaging diagnosis.

    Science.gov (United States)

    Narváez, J A; Hernández-Gañán, J; Isern, J; Sánchez-Fernández, J J

    2016-04-01

    Spinal involvement is common both in the spondyloarthritides and in rheumatoid arthritis, in which the cervical segment is selectively affected. Rheumatoid involvement of the cervical spine has characteristic radiologic manifestations, fundamentally different patterns of atlantoaxial instability. Magnetic resonance imaging (MRI) is the technique of choice for evaluating the possible repercussions of atlantoaxial instability on the spinal cord and/or nerve roots in patients with rheumatoid arthritis as well as for evaluating parameters indicative of active inflammation, such as bone edema and synovitis. Axial involvement is characteristic in the spondyloarthritides and has distinctive manifestations on plain-film X-rays, which reflect destructive and reparative phenomena. The use of MRI has changed the conception of spondyloarthritis because it is able to directly detect the inflammatory changes that form part of the disease, making it possible to establish the diagnosis early in the disease process, when plain-film X-ray findings are normal (non-radiographic axial spondyloarthritis), to assess the prognosis of the disease, and to contribute to treatment planning.

  9. Early, Accurate Diagnosis and Early Intervention in Cerebral Palsy: Advances in Diagnosis and Treatment.

    Science.gov (United States)

    Novak, Iona; Morgan, Cathy; Adde, Lars; Blackman, James; Boyd, Roslyn N; Brunstrom-Hernandez, Janice; Cioni, Giovanni; Damiano, Diane; Darrah, Johanna; Eliasson, Ann-Christin; de Vries, Linda S; Einspieler, Christa; Fahey, Michael; Fehlings, Darcy; Ferriero, Donna M; Fetters, Linda; Fiori, Simona; Forssberg, Hans; Gordon, Andrew M; Greaves, Susan; Guzzetta, Andrea; Hadders-Algra, Mijna; Harbourne, Regina; Kakooza-Mwesige, Angelina; Karlsson, Petra; Krumlinde-Sundholm, Lena; Latal, Beatrice; Loughran-Fowlds, Alison; Maitre, Nathalie; McIntyre, Sarah; Noritz, Garey; Pennington, Lindsay; Romeo, Domenico M; Shepherd, Roberta; Spittle, Alicia J; Thornton, Marelle; Valentine, Jane; Walker, Karen; White, Robert; Badawi, Nadia

    2017-09-01

    Cerebral palsy describes the most common physical disability in childhood and occurs in 1 in 500 live births. Historically, the diagnosis has been made between age 12 and 24 months but now can be made before 6 months' corrected age. To systematically review best available evidence for early, accurate diagnosis of cerebral palsy and to summarize best available evidence about cerebral palsy-specific early intervention that should follow early diagnosis to optimize neuroplasticity and function. This study systematically searched the literature about early diagnosis of cerebral palsy in MEDLINE (1956-2016), EMBASE (1980-2016), CINAHL (1983-2016), and the Cochrane Library (1988-2016) and by hand searching. Search terms included cerebral palsy, diagnosis, detection, prediction, identification, predictive validity, accuracy, sensitivity, and specificity. The study included systematic reviews with or without meta-analyses, criteria of diagnostic accuracy, and evidence-based clinical guidelines. Findings are reported according to the PRISMA statement, and recommendations are reported according to the Appraisal of Guidelines, Research and Evaluation (AGREE) II instrument. Six systematic reviews and 2 evidence-based clinical guidelines met inclusion criteria. All included articles had high methodological Quality Assessment of Diagnostic Accuracy Studies (QUADAS) ratings. In infants, clinical signs and symptoms of cerebral palsy emerge and evolve before age 2 years; therefore, a combination of standardized tools should be used to predict risk in conjunction with clinical history. Before 5 months' corrected age, the most predictive tools for detecting risk are term-age magnetic resonance imaging (86%-89% sensitivity), the Prechtl Qualitative Assessment of General Movements (98% sensitivity), and the Hammersmith Infant Neurological Examination (90% sensitivity). After 5 months' corrected age, the most predictive tools for detecting risk are magnetic resonance imaging (86

  10. Preliminary clinical application of dopamine transporter imaging with technetium-99m TRODAT-1 and SPECT on the early and differential diagnosis of Parkinson's Disease

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    The aim of the study was to demonstrate the degeneration of the dopaninergic nigrostriatal pathway in Parkinson's disease(PD) and Essential Tremor (ET) by using the cocaine derivative 99mTc-TRODAT-1 SPECT and correlate the findings to the clinical severities (Hoehn and Yahr scale, H/Y). 28 patients with idiopathic Parkinson's disease, 10 patients with Essential Trenor and 19 healthy volunteers were investigated. The acquisition were performed 3 h postinjection of 99mTc-TRODAT-1, ROIs were drawn over the images of striatum and cerebellum, and ratios of striatum to cerebellar(ST/CB) were calculated. Ratios differed significantly between PD and controls, but ratios didn't show significant difference between ET patients and controls. A significant correlation didn't exist between ratios and clinical severities. Hemiparkinson's patients revealed significantly diminished 99mTc-TRODAT-1 binding not only clinically affected but unaffected side. Our findings indicated that 99mTc-TRODAT-1 SPECT is not only a reliable method to discriminate between PD and controls but also a useful tool for differential diagnosis in clinically unclear cases such as ET resembling PD.

  11. Preliminary clinical application of dopamine transporter imaging with technetium—99m TRODAT—1 and SPECT on the early and differential diagnosis of Parkinson‘s Disease

    Institute of Scientific and Technical Information of China (English)

    WANGFeng; LIUZeng-Li; 等

    2002-01-01

    The aim of the study was to demonstrate the degeneration of the dopaminergic nigrostriatal pathway in Parkinson's disease(PD)and Essential Tremor(ET) by using the cocaine derivative 99m Tc-TRODAT-1 SPECT and correlate the findings to the clinical severities(Hoehn and Yahr scale,H/Y).28 patients with idiopathic Parkinson's disease,10 patients with Essential Tremor and 19 healthy volunteers were investigated.The acquisition were performed 3h postinjection of 99mTc-TRODAT-1,ROIs were drawn over the images of striatum and cerebellum,and ratios of striatum to cerebellar(ST/CB) were calculated.Ratios differed significantly between PD and controls,but ratios didn't show significant difference between ET patients and controls.A significant correlation didn't exist between ratios and clincal severities.Hemiparkinson's patients revealed significantly diminished 99mTc-TRODAT-1 binding not only clinically affected but unaffected side.Our findings indicated that 99mTc-TRODAT-1 SPECT is not only a reliable method to discriminate between PD and controls but also a useful tool for differential diagnosis in clinically unclear cases such as ET resembling PD.

  12. The Use of Neuroimaging in the Diagnosis of Mitochondrial Disease

    Science.gov (United States)

    Friedman, Seth D.; Shaw, Dennis W. W.; Ishak, Gisele; Gropman, Andrea L.; Saneto, Russell P.

    2010-01-01

    Mutations in nuclear and mitochondrial DNA impacting mitochondrial function result in disease manifestations ranging from early death to abnormalities in all major organ systems and to symptoms that can be largely confined to muscle fatigue. The definitive diagnosis of a mitochondrial disorder can be difficult to establish. When the constellation…

  13. Magnetic resonance imaging markers for early diagnosis of Parkinson's disease☆

    Science.gov (United States)

    Marino, Silvia; Ciurleo, Rosella; Di Lorenzo, Giuseppe; Barresi, Marina; De Salvo, Simona; Giacoppo, Sabrina; Bramanti, Alessia; Lanzafame, Pietro; Bramanti, Placido

    2012-01-01

    Parkinson's disease (PD) is a neurodegenerative disorder characterized by selective and progressive degeneration, as well as loss of dopaminergic neurons in the substantia nigra. In PD, approximately 60-70% of nigrostriatal neurons are degenerated and 80% of content of the striatal dopamine is reduced before the diagnosis can be established according to widely accepted clinical diagnostic criteria. This condition describes a stage of disease called “prodromal”, where non-motor symptoms, such as olfactory dysfunction, constipation, rapid eye movement behaviour disorder, depression, precede motor sign of PD. Detection of prodromal phase of PD is becoming an important goal for determining the prognosis and choosing a suitable treatment strategy. In this review, we present some non-invasive instrumental approaches that could be useful to identify patients in the prodromal phase of PD or in an early clinical phase, when the first motor symptoms begin to be apparent. Conventional magnetic resonance imaging (MRI) and advanced MRI techniques, such as magnetic resonance spectroscopy imaging, diffusion-weighted and diffusion tensor imaging and functional MRI, are useful to differentiate early PD with initial motor symptoms from atypical parkinsonian disorders, thus, making easier early diagnosis. Functional MRI and diffusion tensor imaging techniques can show abnormalities in the olfactory system in prodromal PD. PMID:25745453

  14. Ebola (Ebola Virus Disease): Diagnosis

    Science.gov (United States)

    ... Search Form Controls Cancel Submit Search the CDC Ebola (Ebola Virus Disease) Note: Javascript is disabled or is ... message, please visit this page: About CDC.gov . Ebola (Ebola Virus Disease) About Ebola Questions & Answers 2014- ...

  15. Cardiovascular system diseases in patients with polycystic ovary syndrome - the role of inflammation process in this pathology and possibility of early diagnosis and prevention.

    Science.gov (United States)

    Marciniak, Aleksandra; Nawrocka Rutkowska, Jolanta; Brodowska, Agnieszka; Wiśniewska, Berenika; Starczewski, Andrzej

    2016-12-23

    Polycystic ovary syndrome is a disorder which affects 5-10% of women in reproductive age. PCOS is a cause of hyperandrogenism, menstrual disorders and infertility. The most common clinical symptoms are hirsutism, acne and obesity. Patients often suffer from metabolic disorders: insulin resistance, hyperinsulinemia, dislipidemia, leading to atherosclerosis and others irregularities of the metabolic syndrome. Patients are in the high risk group for cardiovascular diseases (CVD) development because of the metabolic abnormalities. Obesity is observed in 35-60% of women with PCOS. Lean women with PCOS are also exposed to a greater risk of glucose intolerance development and abnormalities in lipid profile than women without PCOS with comparable BMI. Adipocytes are the source of many compounds of the paracrine and endocrine activity. Some of them are also markers and mediators of inflammation. Increased levels of proinflammatory cytokines in blood can promote atherosclerosis and cardiovascular disease. Markers: IL-18, TNF, IL-6 and hs-CRP are often elevated in patients with polycystic ovary syndrome. An increase in inflammatory markers may be an early indicator of the risk of developing insulin resistance and atherosclerosis, and may become a useful prognostic and therapeutic tool for monitoring patients with PCOS: lean and those with overweight and obesity. Assessment of the concentrations of inflammatory markers may become a very useful test in evaluating the risk of developing atherosclerosis and cardiovascular disease, long before their clinical manifestation. It will also allow for the appropriate prophylaxis.

  16. Hepatic Encephalopathy: Early Diagnosis in Pediatric Patients With Cirrhosis

    OpenAIRE

    2013-01-01

    How to Cite This Article: Dara N, Sayyari AA, Imanzadeh F. Hepatic Encephalopathy: Early Diagnosis in Pediatric Patients With Cirrhosis. Iran J Child Neurol. 2014 Winter; 8(1):1-11.ObjectiveAs acute liver failure (ALF) and chronic liver disease (cirrhosis) continue to increase in prevalence, we will see more cases of hepatic encephalopathy.Primary care physician are often the first to suspect it, since they are familiar with the patient’s usual physical and mental status. This serious complic...

  17. 脂肪酸结合蛋白与心脑血管病的早期诊断%Fatty acid-binding proteins and the early diagnosis of cardio-cerebrovascular diseases

    Institute of Scientific and Technical Information of China (English)

    张黎军; 赵中

    2010-01-01

    Currently, the commonly used diagnostic markers have the shortcomings of lower sensitivity or specificity in the early diagnosis of cardio-cerebrovascular diseases. Therefore, it needs to use the novel specific biochemical markers for the early diagnosis arid treatment, so as to decrease the high mortality and disability caused by cardio-cerebrovascular events. Fatty acid-binding proteins (FABPs) are a family of low-molecular-weight intracellular lipid-binding proteins. They are divided into 9 different subtypes, including the liver-, intestinal-, heart-, brain-, adipocyte-, skin-, ileal-, myelin-, and testis-subtype. Their primary function is to transport long-chain fatty acids into the cells, and thus regulate intracellular lipid metabolism. The structures of all FABP subtypes are similar, inclusive of two α2 helices arid one β2 fold structure. Among them, the sensitivities and specificities of the heart- and brain-subtype FABPs are higher in the early diagnosis of cardio-cerebrovascular diseases. It is promising to become the novel markers in the early diagnosis of cardio-cerebrovascular diseases.%在心脑血管病的早期诊断方面,目前常用的诊断标志物存在敏感性或特异性较低的缺点,因此需要利用新的生化特异标志物来进行早期诊断和早期治疗,以降低心脑血管事件导致的高病死率和高致残率.脂肪酸结合蛋白(fatty acid-binding protein,FABP)是一种低分子胞内脂质结合蛋白,分为肝脏型、肠型、心型、脑型、脂肪细胞型、表皮型、回肠型、髓磷脂型和睾丸型等9种亚型,其主要功能是转运长链脂肪酸至细胞内,从而调节细胞内脂质代谢.各种FABP亚型的结构相似,均含有2个α2螺旋和1个β2折叠结构.其中,心型和脑型FABP早期诊断心脑血管病的敏感性和特异性较高,有望成为心脑血管病早期诊断的新型标志物.

  18. SYMPTOMS AND DIAGNOSIS OF HIRSCHSPRUNG’S DISEASE

    Directory of Open Access Journals (Sweden)

    Putu Ayu Ines Lassiyani Surya

    2014-02-01

    Full Text Available Hirschsprung disease is a disease that attacks the human digestive system, mainly in the largeintestine (colon. In this disease, found enlargement of the colon (megacolon, due to the absenceof ganglion cells in the distal intestine. Hirschsprung disease often affects neonates and evenchildren, are often characterized by delays in spending the first meconium, bilious vomiting,abdominal distension. Methods diagnois do for Hirschsprung's disease was confirmed by biopsy,barium enema or contrast enema, and anorectal manometry. Early diagnosis is crucial to conductrapid and appropriate treatment and to prevent complications.

  19. Presymptomatic diagnosis of Fabry's disease

    DEFF Research Database (Denmark)

    Hasselbalch, Rasmus Bo; Madsen, Per Lav; Bundgaard, Henning;

    2016-01-01

    differential diagnoses in patients presenting with cardiac hypertrophy. In boys, onset has been reported in early childhood with complaints initially comprising neuropathic pain, reduced sweat production, and gastrointestinal symptoms. Later the cardiac, renal, and central nervous systems may become affected...

  20. [Early diagnosis of gastric cancer, a utopian idea? (author's transl)].

    Science.gov (United States)

    Seifert, E

    1981-05-01

    In order to improve the prognosis of gastric cancer it is necessary to discover the lesions at an early stage of the disease. Early gastric cancer has an excellent prognosis with a postoperative survival rate of 77 to 99%. Since 1970 we have diagnosed 76 cases of early gastric cancer and the percentage of early cancer out of all gastric cancers increased from 10 to 23%. This improvement is based on selected examinations of high-risk patients, on better diagnostic methods and on our better knowledge of macroscopic and histological appearance. In particular, the use of snare biopsy in protruding lesions and the implementation of continuous endoscopic-bioptic follow-up of all gastric ulcers until complete healing is achieved have improved the accuracy of histological verification. In 16 out of 76 cases of early gastric cancer a multicentric growth was observed. The diagnosis of gastric cancer at an early stage is not an utopian idea. It is reality when we pay attention to the aspects mentioned before.

  1. Heck's disease: diagnosis and susceptibility.

    Science.gov (United States)

    Bennett, Lindsey K; Hinshaw, Molly

    2009-01-01

    Focal epithelial hyperplasia, or Heck's disease, is an uncommon proliferation of oral mucosa that presents primarily in Native Central and South American populations. It presents as asymptomatic papules or nodules on the oral mucosa, gingiva, tongue, and lips. In the majority of cases, human papilloma virus 13 or 32 is detected. Factors that determine disease susceptibility are unclear, but genetics, and having the human lymphocytic antigen-DR4 (DRB1*0404) allele in particular, are thought to play a major role in disease vulnerability. We report another case of focal epithelial hyperplasia, hypothesize on disease susceptibility, and review the current understanding of this uncommon disorder.

  2. Congenital metabolic diseases: Diagnosis and treatment

    Energy Technology Data Exchange (ETDEWEB)

    Wapnir, R.A.

    1985-01-01

    This book contains eight parts, each consisting of several papers. The part titles are: The Heritage of Sir Archibald Garrod; New Approaches to the Diagnosis and Treatment of Genetic Disease; Achievements, New Trends, and Policies in the Detection of Inborn Errors of Metabolism; Disorders of Amino Acid Metabolism; Diseases of Energy Metabolism; Problems of Abnormal Storage Diseases; Inherited Diseases of Membrane Transport and Receptors; and Inborn Errors of Purine Metabolism and Urea Synthesis.

  3. 社区医师在帕金森病早期诊断中的作用%Role of℅ommunity Physicians in Early Diagnosis of Parkinson's Disease

    Institute of Scientific and Technical Information of China (English)

    邱模昌; 方义湖; 程畅河

    2014-01-01

    帕金森病( PD)是一种慢性中枢神经系统退行性疾病,随着病情发展症状逐渐加重,可致残,严重影响患者生活质量。常用的治疗手段只能改善症状,很少能阻止病情的发展,更无法治愈。尽早诊断并采取神经保护性治疗可延缓疾病的发展,控制患者的症状。专科医师通过对PD患者非运动症状( NMS)的掌握以及各种新的诊断技术的运用,在早期诊断方面有了一定进展,但是因专科医师数量有限及新型诊断技术成本较高,难以大范围做到PD患者的早期诊断。社区医师以其庞大的队伍和独特的工作性质在PD早期诊断中可发挥重要作用,如果能加强社区医师对PD早期诊断的意识,充分调动起广大社区医师的积极性,发挥其优势,主动参与PD的早期筛查诊断工作,将有利于对PD患者进行早期保护治疗,改善患者生活质量。%Parkinson'sdisease(PD),achronicdegenerativediseaseofthecentralnervoussystemandaggravating gradually with the progression of disease,may cause disability and affect patients' quality of life( QOL)seriously. The common treatments can only improve symptoms but can rarely stop the disease progresses,let alone cure. Early diagnosis and nerve neu-roprotective treatment can delay disease progression and control patients' symptoms. Some progress in early diagnosis has been a-chieved through the master of non-motor symptom( NMS)and various new diagnostic technology,but it is difficult to do early diagnoses in a wide range due to lack of specialists and high costs of new diagnostic technology. Community doctors can play an important role in PD early diagnosis due to their enormous quantity and their unique work nature. Strengthening community doc-tors' awareness of PD early diagnosis,fully mobilizing their enthusiasm,exploiting their advantages,participating in PD early screening and diagnosis will be in favor of PD patients' early protective

  4. Serological Diagnosis of Autoimmune Blistering Diseases

    Directory of Open Access Journals (Sweden)

    Birgül Özkesici

    2016-03-01

    Full Text Available Autoimmune blistering diseases are a rare diseases, characterized by development of autoantibodies against the structural proteins of the epidermis or dermoepidermal junction, and blisters and erosions on skin and/or mucous membranes clinically. Clinical features are important guiding findings for suspicious of this group of diseases. The diagnosis is achieved by the evaluation together of clinical features, histological and immunological findings. The gold standard in the diagnosis of this group diseases are demonstration of tissue bound and/or circulating autoantibodies. Methods for this purpose are; direct and indirect immunofluorescence, Enzyme Linked Immunosorbent Assay (ELISA, immunoprecipitation and immunoblotting. The aim of this paper is to review serological diagnostic methods in the diagnosis of autoimmune bullous diseases and to present developments in recent years.

  5. [Computer-assisted diagnosis of rare diseases].

    Science.gov (United States)

    Müller, T; Jerrentrup, A; Schäfer, J R

    2017-03-31

    To establish a comprehensive diagnosis is by far the most challenging task in a physician's daily routine. Especially rare diseases place high demands on differential diagnosis, caused by the high number of around 8000 diseases and their clinical variability. No clinician can be aware of all the different entities and memorizing them all is impossible and inefficient. Specific diagnostic decision-supported systems provide better results than standard search engines in this context. The systems FindZebra, Phenomizer, Orphanet, and Isabel are presented here concisely with their advantages and limitations. An outlook is given to social media usage and big data technologies. Due to the high number of initial misdiagnoses and long periods of time until a confirmatory diagnosis is reached, these tools might be promising in practice to improve the diagnosis of rare diseases.

  6. Unusual early-onset Huntingtons disease.

    Science.gov (United States)

    Vargas, Antonio P; Carod-Artal, Francisco J; Bomfim, Denise; Vázquez-Cabrera, Carolina; Dantas-Barbosa, Carmela

    2003-06-01

    Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.

  7. Early Detection of Disease Outbreaks

    OpenAIRE

    2005-01-01

    BACKGROUND: The ability to detect disease outbreaks early is important in order to minimize morbidity and mortality through timely implementation of disease prevention and control measures. Many national, state, and local health departments are launching disease surveillance systems with daily analyses of hospital emergency department visits, ambulance dispatch calls, or pharmacy sales for which population-at-risk information is unavailable or irrelevant. METHODS AND FINDINGS: We propose a pr...

  8. Expert System For Diagnosis Of Skin Diseases

    Directory of Open Access Journals (Sweden)

    A.A.L.C. Amarathunga

    2015-01-01

    Full Text Available Abstract Dermatology is a one of major session of medicine that concerned with the diagnosis and treatment of skin diseases. Skin diseases are the most common form of disease in humans. Recently many of researchers have advocated and developed the imaging of human vision or in the loop approach to visual object recognition. This research paper presents a development of a skin diseases diagnosis system which allows user to identify diseases of the human skin and to provide advises or medical treatments in a very short time period. For this purpose user will have to upload an image of skin disease to our system and answer questions based on their skin condition or symptoms. It will be used to detect diseases of the skin and offer a treatment recommendation. This system uses technologies such as image processing and data mining for the diagnosis of the disease of the skin. The image of skin disease is taken and it must be subjected to various preprocessing for noise eliminating and enhancement of the image. This image is immediately segmentation of images using threshold values. Finally data mining techniques are used to identify the skin disease and to suggest medical treatments or advice for users. This expert system exhibits disease identification accuracy of 85 for Eczema 95 for Impetigo and 85 for Melanoma.

  9. Preliminary criteria for the very early diagnosis of systemic sclerosis

    DEFF Research Database (Denmark)

    Avouac, J; Fransen, Julie Munk; Walker, U A

    2011-01-01

    To identify a core set of preliminary items considered as important for the very early diagnosis of systemic sclerosis (SSc).......To identify a core set of preliminary items considered as important for the very early diagnosis of systemic sclerosis (SSc)....

  10. (11)C-PIB-PET for the early diagnosis of Alzheimer's disease dementia and other dementias in people with mild cognitive impairment (MCI).

    Science.gov (United States)

    Zhang, Shuo; Smailagic, Nadja; Hyde, Chris; Noel-Storr, Anna H; Takwoingi, Yemisi; McShane, Rupert; Feng, Juan

    2014-07-23

    According to the latest revised National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer's Disease and Related Disorders Association (now known as the Alzheimer's Association) (NINCDS-ADRDA) diagnostic criteria for Alzheimer's disease dementia, the confidence in diagnosing mild cognitive impairment (MCI) due to Alzheimer's disease dementia is raised with the application of imaging biomarkers. These tests, added to core clinical criteria, might increase the sensitivity or specificity of a testing strategy. However, the accuracy of biomarkers in the diagnosis of Alzheimer's disease dementia and other dementias has not yet been systematically evaluated. A formal systematic evaluation of the sensitivity, specificity, and other properties of positron emission tomography (PET) imaging with the (11)C-labelled Pittsburgh Compound-B ((11)C-PIB) ligand was performed. To determine the diagnostic accuracy of the (11)C- PIB-PET scan for detecting participants with MCI at baseline who will clinically convert to Alzheimer's disease dementia or other forms of dementia over a period of time. The most recent search for this review was performed on 12 January 2013. We searched MEDLINE (OvidSP), EMBASE (OvidSP), BIOSIS Previews (ISI Web of Knowledge), Web of Science and Conference Proceedings (ISI Web of Knowledge), PsycINFO (OvidSP), and LILACS (BIREME). We also requested a search of the Cochrane Register of Diagnostic Test Accuracy Studies (managed by the Cochrane Renal Group).No language or date restrictions were applied to the electronic searches and methodological filters were not used so as to maximise sensitivity. We selected studies that had prospectively defined cohorts with any accepted definition of MCI with baseline (11)C-PIB-PET scan. In addition, we only selected studies that applied a reference standard for Alzheimer's dementia diagnosis for example NINCDS-ADRDA or Diagnostic and Statistical Manual of Mental Disorders-IV (DSM

  11. [Guidelines of diagnosis for peptic ulcer disease].

    Science.gov (United States)

    Kim, Sang Gyun; Kim, Jae Gyu; Shin, Sung Kwan; Kim, Hyun Soo; Seol, Sang Young

    2009-11-01

    Peptic ulcer is one of the most prevalent diseases in gastrointestinal field. Recently, evolution was made for pathophysiology of peptic ulcer from "no acid, no ulcer" to Helicobacter pylori and non-steroidal anti-inflammatory drugs. The prevalence of peptic ulcer disease is estimated about 10% in Korea, and has declined due to Helicobacter pylori eradication therapy. Peptic ulcer has the cycle of exacerbation and improvement in the clinical course, and has not occasionally any clinical symptom. Helicobacter pylori eradication has made the marked reduction of relapse of peptic ulcer disease. Although nationwide endoscopic screening has enabled accurate diagnosis of peptic ulcer disease, general guideline for diagnosis of peptic ulcer has not made in Korea. Herein, we propose a guideline for the diagnosis of peptic ulcer according to domestic, international clinical studies, and experts opinions with level of evidence and grade of recommendation.

  12. Diagnosis of Skin Diseases using Online Expert System

    Directory of Open Access Journals (Sweden)

    Muhammad Zubair Asghar

    2011-06-01

    Full Text Available This paper describes Expert System (ES for diagnosis and management of skin diseases. More than 13 types of skin diseases can be diagnosed and treated by our system. It is rule based web-supported expert system, assisting skin specialists, medical students doing specialization in dermatology, researchers as well as skin patients having computer know-how. System was developed with Java Technology. The expert rules were developed on the symptoms of each type of skin disease, and they were presented using tree-graph and inferred using forward-chaining with depth-first search method. User interaction with system is enhanced with efficient user interfaces. The web based expert system described in this paper can detect and give early diagnosis of thirteen plus skin diseases. This ES can be extended to diagnose all types of skin-diseases.

  13. Premotor Diagnosis of Parkinson's Disease.

    Science.gov (United States)

    Reichmann, Heinz

    2017-08-03

    Typical Parkinsonian symptoms consist of bradykinesia plus rigidity and/or resting tremor. Some time later postural instability occurs. Pre-motor symptoms such as hyposmia, constipation, REM sleep behavior disorder and depression may antecede these motor symptoms for years. It would be ideal, if we had a biomarker which would allow to predict who with one or two of these pre-motor symptoms will develop the movement disorder Parkinson's disease (PD). Thus, it is interesting to learn that biopsies of the submandibular gland or colon biopsies may be a means to predict PD, if there is a high amout of abnormally folded alpha-synuclein and phosphorylated alpha-synuclein. This would be of relevance if we would have available means to stop the propagation of abnormal alpha-synuclein which is otherwise one of the reasons of this spreading disease PD.

  14. Artificial Neural Networks for Diagnosis of Kidney Stones Disease

    Directory of Open Access Journals (Sweden)

    Koushal Kumar

    2012-07-01

    Full Text Available Artificial Neural networks are often used as a powerful discriminating classifier for tasks in medical diagnosis for early detection of diseases. They have several advantages over parametric classifiers such as discriminate analysis. The objective of this paper is to diagnose kidney stone disease by using three different neural network algorithms which have different architecture and characteristics. The aim of this work is to compare the performance of all three neural networks on the basis of its accuracy, time taken to build model, and training data set size. We will use Learning vector quantization (LVQ, two layers feed forward perceptron trained with back propagation training algorithm and Radial basis function (RBF networks for diagnosis of kidney stone disease. In this work we used Waikato Environment for Knowledge Analysis (WEKA version 3.7.5 as simulation tool which is an open source tool. The data set we used for diagnosis is real world data with 1000 instances and 8 attributes. In the end part we check the performance comparison of different algorithms to propose the best algorithm for kidney stone diagnosis. So this will helps in early identification of kidney stone in patients and reduces the diagnosis time.

  15. Application of transcranial sonography in the differential diagnosis of early Parkinson disease%经颅超声在早期帕金森病鉴别诊断中的应用进展

    Institute of Scientific and Technical Information of China (English)

    马端兰; 李刚; 李振光; 张建忠; 于占彩; 邹佳霖; 包卫方

    2016-01-01

    黑质经颅超声(TCS)检查对帕金森病(PD)的诊断具有重要价值。TCS已被推荐用于测定第三脑室宽度、PD的早期诊断与鉴别诊断、深部脑刺激(DBS)术后电极位置管理等,随着研究的不断深入及操作流程的日益规范,TCS较高的阳性预测值及其廉价、便利、无创等特点,使有望常规应用于PD的早期诊断与鉴别诊断。%Transcranial sonography (TCS) of the substantia nigra (SN) is a new and promising method to diagnose Parkinson's disease (PD). TCS is currently recommended in clinical practice for the assessment of the 3rd ventricle widths, the early and differential diagnosis of PD, and the post-operative position control of DBS electrodes. The high positive predictive value of TCS highlights its possible utility as a routine diagnostic test for early and differential diagnosis of PD.

  16. CT diagnosis of biliary tract diseases

    Energy Technology Data Exchange (ETDEWEB)

    Sobota, J.; Horak, J.; Antos, Z.; Vodak, M. (Ustredni Vojenska Nemocnice, Prague (Czechoslovakia))

    1983-09-01

    The possibilities are discussed offered by computed tomography in the diagnosis of biliary tract diseases. Attention is paid to difficulties associated with the diagnosis of pathological changes in the biliary tract, and to the detection of isodense concrements where diagnostic problems are reliably resolved by PTHC and ERCP. It is therefore useful to supplement CT with other examination methods. A suitable combination is cholescintigraphy and CT with the possibility of a final diagnosis or selection of further examination, as a rule of an invasive nature.

  17. 基于BP神经网络建立的川崎病早期诊断模型%BP Neural Network Model for Early Diagnosis of Kawasaki Disease

    Institute of Scientific and Technical Information of China (English)

    黄江; 陈剑锋

    2011-01-01

    In order to diagnose Kawasaki Disease during early phase, clinical symptoms (temperature, rash, conjunctival injec-tion, erythema of thelips, and oral mucosal changes) and laboratory data (white blood cell, neutrophil, platelet, c -reactive protein, and erythrocyte sedimentation rate) of 156 children with Kawasaki disease or infectious diseases were used to develop a BP neural net-work model. 90 random cases were trained using MATLAB software for setting up the BP neural network model. The other 66 cases were analyzed to predict diagnosis of Kawasaki disease using this model. Results showed that the predict accuracy in patients with Ka-wasaki disease and children with infectious diseases were 97. 4% and 92. 9% , respectively. Our result indicates that the BP neural network model is likely to provide an accurate test for early diagnosis of Kawasaki disease.%为早期诊断川崎痛,应用BP神经网络原理建立川崎病的诊断模型.以156例川崎病与非川崎病患者的体温、皮疹、口腔黏膜改变、实验室检查结果等9项指标等作为BP神经网络的输入参数,在MATLAB7程序中对其中随机抽取的90例学习样本进行训练并建模.以剩余的66例作为测试样本进行预测,结果表明该模型对川崎病和非川崎病的预测准确率分别为97.4%、92.9%,提示此模型可有效地判别出川崎病与非川崎病,可用于川崎病的早期辅助诊断.

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

    Science.gov (United States)

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

    2016-04-01

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

  19. Spatial-temperature high resolution map for early cancer diagnosis

    Science.gov (United States)

    Gavriloaia, Gheorghe V.; Hurduc, Anca; Ghimigean, Ana-Maria; Fumarel, Radu

    2009-02-01

    Heat is one of the most important parameters of living beings. Skin temperature is not the same on the entire body and so, a thermal signature can be got. Infrared map on serial imaging can constitute an early sign of an abnormality. Thermography detects changes in tissue that appear before and accompany many diseases including cancer. As this map has a better resolution an early cancer diagnosis can be done. The temperature of neoplasic tissue is different up to 1.5 °C than that of the healthy tissue as a result of the specific metabolic rate. The infrared camera images show very quickly the heat transferred by radiation. A lot of factors disturb the temperature conversion to pixel intensity. A sensitive temperature sensor with a 10 Mpixels video camera, showing its spatial position, and a computer fusion program were used for the map with high spatial-temperature resolution. A couple of minutes are necessary to get a high resolution map. The asymmetry and borders were the main parameters analyzed. The right cancer diagnosis was for about 78.4% of patients with thyroid cancer, and more than 89.6% from patients with breast cancer. In the near future, the medical prognosis will be improved by fractal analysis.

  20. Meniere's disease: Still a mystery disease with difficult differential diagnosis.

    Science.gov (United States)

    Vassiliou, A; Vlastarakos, P V; Maragoudakis, P; Candiloros, D; Nikolopoulos, T P

    2011-01-01

    One hundred and forty-six years after its first description, the differential diagnosis of Meniere's disease remains very challenging. The aim of the present study is to review the current knowledge on the advantages and disadvantages of the new diagnostic methods for Meniere's disease. The importance of accurate diagnosis for primary healthcare systems is also discussed. An extensive search of the literature was performed in Medline and other available database sources. Information from electronic links and related books were also included. Controlled clinical studies, prospective cohort studies, retrospective cohort studies, cross-sectional studies, case reports, written guidelines, systematic reviews, and books were selected. The typical clinical triad of symptoms from the vestibular and cochlear systems (recurrent vertigo, fluctuating sensorineural hearing loss and tinnitus) is usually the key for clinical diagnosis. Glycerol dehydration test and electrocochleography are the main diagnostic tests in current practice, while vestibular evoked myogenic potentials may be used in disease staging. Imagine techniques are not specific enough to set alone the diagnosis of Meniere's disease, although they may be necessary to exclude other pathologies. Recently developed 3D MRI protocols can delineate the perilymphatic/endolymphatic spaces of the inner ear and aid diagnosis. Meniere's disease is a continuous problem for the patients and affects their quality of life. Taking into account the frequent nature of the disease in certain countries, efforts for reliable diagnosis, prompt referral, and successful management are undoubtedly cost-effective for healthcare systems.

  1. Diagnosis and management of kawasaki disease.

    Science.gov (United States)

    Saguil, Aaron; Fargo, Matthew; Grogan, Scott

    2015-03-15

    Kawasaki disease is an acute, systemic vasculitis that predominantly affects patients younger than five years. It represents the most prominent cause of acquired coronary artery disease in childhood. In the United States, 19 per 100,000 children younger than five years are hospitalized with Kawasaki disease annually. According to U.S. and Japanese guidelines, Kawasaki disease is a clinical diagnosis. Classic (typical) Kawasaki disease is diagnosed based on the presence of a fever lasting five or more days, accompanied by four out of five findings: bilateral conjunctival injection, oral changes such as cracked and erythematous lips and strawberry tongue, cervical lymphadenopathy, extremity changes such as erythema or palm and sole desquamation, and polymorphous rash. Incomplete (atypical) Kawasaki disease occurs in persons with fever lasting five or more days and with two or three of these findings. Transthoracic echocardiography is the diagnostic imaging modality of choice to screen for coronary aneurysms, although other techniques are being evaluated for diagnosis and management. Treatment for acute disease is intravenous immunoglobulin and aspirin. If there is no response to treatment, patients are given a second dose of intravenous immunoglobulin with or without corticosteroids or other adjunctive treatments. The presence and severity of coronary aneurysms and obstruction at diagnosis determine treatment options and the need, periodicity, and intensity of long-term cardiovascular monitoring for potential atherosclerosis.

  2. Early detection of contagious diseases

    Science.gov (United States)

    Colston, Jr., Billy W.; Milanovich, Fred P.; Estacio, Pedro; Chang, John

    2011-08-09

    This invention provides an electronic proximity apparatus and a surveillance method using such an apparatus for alerting individuals that are exposed to a contagious disease. When a person becomes symptomatic and is diagnosed as positive for a given contagious agent, individuals that have recently maintained a threshold proximity with respect to an infected individual are notified and advised to seek immediate medial care. Treatment of individuals in the very early phases of infection (pre-symptomatic) significantly reduces contagiousness of the infected population first exposed to the contagious disease, thus preventing spread of the disease throughout the general population.

  3. Molecular diagnosis of putative Stargardt disease probands by exome sequencing

    Directory of Open Access Journals (Sweden)

    Strom Samuel P

    2012-08-01

    Full Text Available Abstract Background The commonest genetic form of juvenile or early adult onset macular degeneration is Stargardt Disease (STGD caused by recessive mutations in the gene ABCA4. However, high phenotypic and allelic heterogeneity and a small but non-trivial amount of locus heterogeneity currently impede conclusive molecular diagnosis in a significant proportion of cases. Methods We performed whole exome sequencing (WES of nine putative Stargardt Disease probands and searched for potentially disease-causing genetic variants in previously identified retinal or macular dystrophy genes. Follow-up dideoxy sequencing was performed for confirmation and to screen for mutations in an additional set of affected individuals lacking a definitive molecular diagnosis. Results Whole exome sequencing revealed seven likely disease-causing variants across four genes, providing a confident genetic diagnosis in six previously uncharacterized participants. We identified four previously missed mutations in ABCA4 across three individuals. Likely disease-causing mutations in RDS/PRPH2, ELOVL, and CRB1 were also identified. Conclusions Our findings highlight the enormous potential of whole exome sequencing in Stargardt Disease molecular diagnosis and research. WES adequately assayed all coding sequences and canonical splice sites of ABCA4 in this study. Additionally, WES enables the identification of disease-related alleles in other genes. This work highlights the importance of collecting parental genetic material for WES testing as the current knowledge of human genome variation limits the determination of causality between identified variants and disease. While larger sample sizes are required to establish the precision and accuracy of this type of testing, this study supports WES for inherited early onset macular degeneration disorders as an alternative to standard mutation screening techniques.

  4. Polymylagia rheumatica: common disease, elusive diagnosis.

    Science.gov (United States)

    Mager, Diana R

    2015-03-01

    Polymyalgia rheumatica (PMR) is a common inflammatory rheumatic disease with little known about its etiology or incidence. Frequently found in older adult women, this disease can be debilitating, painful, and dangerous. Diagnosing PMR can be elusive due to lack of specific laboratory tests, and treatment with use of long-term glucocorticoids can be difficult due to side effects. The following article describes the pathophysiology, diagnosis, signs and symptoms, and treatment of PMR, as well as implications for home healthcare.

  5. Coeliac disease: review of diagnosis and management.

    Science.gov (United States)

    Walker, Marjorie M; Ludvigsson, Jonas F; Sanders, David S

    2017-08-21

    Coeliac disease is an immune-mediated systemic disease triggered by exposure to gluten, and manifested by small intestinal enteropathy and gastrointestinal and extra-intestinal symptoms. Recent guidelines recommend a concerted use of clear definitions of the disease. In Australia, the most recent estimated prevalence is 1.2% in adult men (1:86) and 1.9% in adult women (1:52). Active case finding is appropriate to diagnose coeliac disease in high risk groups. Diagnosis of coeliac disease is important to prevent nutritional deficiency and long term risk of gastrointestinal malignancy. The diagnosis of coeliac disease depends on clinico-pathological correlation: history, presence of antitransglutaminase antibodies, and characteristic histological features on duodenal biopsy (when the patient is on a gluten-containing diet). Human leucocyte antigen class II haplotypes DQ2 or DQ8 are found in nearly all patients with coeliac disease, but are highly prevalent in the general population at large (56% in Australia) and testing can only exclude coeliac disease for individuals with non-permissive haplotypes. Adhering to a gluten free diet allows duodenal mucosal healing and alleviates symptoms. Patients should be followed up with a yearly review of dietary adherence and a health check. Non-coeliac gluten or wheat protein sensitivity is a syndrome characterised by both gastrointestinal and extra-intestinal symptoms related to the ingestion of gluten and possibly other wheat proteins in people who do not have coeliac disease or wheat allergy recognised by diagnostic tests.

  6. Alexander disease : Diagnosis with MR imaging

    NARCIS (Netherlands)

    van der Knaap, MS; Naidu, S; Breiter, SN; Blaser, S; Stroink, H; Spinger, S; Begeer, JC; van Coster, R; Barth, PG; Thomas, NH; Powers, JM; Valk, J.

    2001-01-01

    BACKGROUND AND PURPOSE: To date, the demonstration of Rosenthal fibers on brain biopsy or autopsy specimens is considered a prerequisite for a definitive diagnosis of Alexander disease. We initiated a multiinstitutional survey of MR abnormalities in both presumed and confirmed cases of Alexander dis

  7. Diagnosis and management of thyroid eye disease.

    Science.gov (United States)

    Denniston, Alastair; Dodson, Paul; Reuser, Tristan

    2002-03-01

    Recent advances are helping elucidate the pathogenesis and improve the management of thyroid eye disease. While biochemical investigations and imaging may be supportive, ophthalmological and medical clinical assessments remain the key to the diagnosis and management of this sight-threatening disorder.

  8. Advances in Raman spectroscopy for the diagnosis of Alzheimer's disease

    Science.gov (United States)

    Sudworth, Caroline D.; Archer, John K. J.; Black, Richard A.; Mann, David

    2006-02-01

    Within the next 50 years Alzheimer's disease is expected to affect 100 million people worldwide. The progressive decline in the mental health of the patient is caused by severe brain atrophy generated by the breakdown and aggregation of proteins, resulting in β-amyloid plaques and neurofibrillary tangles. The greatest challenge to Alzheimer's disease lies in the pursuit of an early and definitive diagnosis, in order that suitable treatment can be administered. At the present time, definitive diagnosis is restricted to post-mortem examination. Alzheimer's disease also remains without a long-term cure. This research demonstrates the potential role of Raman spectroscopy, combined with principle components analysis (PCA), as a diagnostic method. Analyses of ethically approved ex vivo post-mortem brain tissues (originating from frontal and occipital lobes) from control (3 normal elderly subjects and 3 Huntingdon's disease subjects) and Alzheimer's disease (12 subjects) brain sections, and a further set of 12 blinded samples are presented. Spectra originating from these tissues are highly reproducible, and initial results indicate a vital difference in protein content and conformation, relating to the abnormally high levels of aggregated proteins in the diseased tissues. Further examination of these spectra using PCA allows for the separation of control from diseased tissues. The validation of the PCA models using blinded samples also displays promise for the identification of Alzheimer's disease, in conjunction with secondary information regarding other brain diseases and dementias. These results provide a route for Raman spectroscopy as a possible non-invasive, non-destructive tool for the early diagnosis of Alzheimer's disease.

  9. Early breast cancer: diagnosis, treatment and survivorship.

    LENUS (Irish Health Repository)

    Meade, Elizabeth

    2013-01-11

    Breast cancer is the most common female cancer and globally remains a major public health concern. The diagnosis and treatment of breast cancer continues to develop. Diagnosis is now more precise, surgery is less mutilating and women now have the option of breast conserving therapy with better cosmesis, and without sacrificing survival. Radiotherapy is more targeted and the selection of patients for adjuvant chemotherapy is based not only on prognostic and predictive factors, but also on newer molecular profiling that will ensure that chemotherapy is given to the patients who need and respond to it. These developments all provide a more tailored approach to the treatment of breast cancer. Management now involves a multidisciplinary team approach in order to provide the highest standard of care for patients throughout their cancer journey from diagnosis through treatment and into follow-up care.

  10. Advances in Diagnosis of Respiratory Diseases of Small Ruminants

    Directory of Open Access Journals (Sweden)

    Sandip Chakraborty

    2014-01-01

    Full Text Available Irrespective of aetiology, infectious respiratory diseases of sheep and goats contribute to 5.6 percent of the total diseases of small ruminants. These infectious respiratory disorders are divided into two groups: the diseases of upper respiratory tract, namely, nasal myiasis and enzootic nasal tumors, and diseases of lower respiratory tract, namely, peste des petits ruminants (PPR, parainfluenza, Pasteurellosis, Ovine progressive pneumonia, mycoplasmosis, caprine arthritis encephalitis virus, caseous lymphadenitis, verminous pneumonia, and many others. Depending upon aetiology, many of them are acute and fatal in nature. Early, rapid, and specific diagnosis of such diseases holds great importance to reduce the losses. The advanced enzyme-linked immunosorbent assays (ELISAs for the detection of antigen as well as antibodies directly from the samples and molecular diagnostic assays along with microsatellites comprehensively assist in diagnosis as well as treatment and epidemiological studies. The present review discusses the advancements made in the diagnosis of common infectious respiratory diseases of sheep and goats. It would update the knowledge and help in adapting and implementing appropriate, timely, and confirmatory diagnostic procedures. Moreover, it would assist in designing appropriate prevention protocols and devising suitable control strategies to overcome respiratory diseases and alleviate the economic losses.

  11. Infantile Pompe disease: Clinical picture, diagnosis, and treatment

    Directory of Open Access Journals (Sweden)

    N. P. Kotlukova

    2012-01-01

    Full Text Available Pompe disease is a rare inherited disease that belongs to lysosomal accumulation diseases and can be considered as cardiac glycogenosistype II, as well as a severe neuromuscular disease or metabolic myopathy. Physicians of different specialties very rarely identify this pathology, which is due to both its rarity and clinical and genetic polymorphism. Infantile Pompe disease is the severest form. It is characterized by a progressive pattern and a fatal outcome during the first year of life. The possibility of performing enzyme replacement therapy for this disease, which can improve the prognosis and quality of life of patients, makes the early diagnosis of Pompe disease urgent. The paper describes the clinical presentation of infantile Pompe disease and current methods for its diagnosis and treatment. The authors give their experience in diagnosing and treating infantile Pompe disease, by demonstrating 3 cases of the disease. The characteristics of each infant, which confirm the clinical and genetic variety of this pathology, are discussed.

  12. PSA Isoforms' Velocities for Early Diagnosis of Prostate Cancer.

    Science.gov (United States)

    Heidegger, Isabel; Klocker, Helmut; Pichler, Renate; Horninger, Wolfgang; Bektic, Jasmin

    2015-06-01

    Free prostate-specific antigen (fPSA) and its molecular isoforms are suggested for enhancement of PSA testing in prostate cancer (PCa). In the present study we evaluated whether PSA isoforms' velocities might serve as a tool to improve early PCa diagnosis. Our study population included 381 men who had undergone at least one ultrasound-guided prostate biopsy whose pathologic examination yielded PCa or showed no evidence of prostatic malignancy. Serial PSA, fPSA, and proPSA measurements were performed on serum samples covering 7 years prior to biopsy using Beckmann Coulter Access immunoassays. Afterwards, velocities of PSA (PSAV), fPSA% (fPSA%V), proPSA% (proPSA%V) and the ratio proPSA/PSA/V were calculated and their ability to discriminate cancer from benign disease was evaluated. Among 381 men included in the study, 202 (53%) were diagnosed with PCa and underwent radical prostatectomy at our Department. PSAV, fPSA%V, proPSA%V as well as proPSA/PSA/V were able to differentiate significantly between PCa and non-cancerous prostate. The highest discriminatory power between cancer and benign disease has been observed two and one year prior to diagnosis with all measured parameters. Among all measured parameters, fPSA%V showed the best cancer specificity of 45.3% with 90% of sensitivity. In summary, our results highlight the value of PSA isoforms' velocity for early detection of PCa. Especially fPSA%V should be used in the clinical setting to increase cancer detection specificity.

  13. Advances in early diagnosis and therapy of pancreatic cancer

    Institute of Scientific and Technical Information of China (English)

    Qiang Xu; Tai-Ping Zhang; Yu-Pei Zhao

    2011-01-01

    BACKGROUND: Pancreatic cancer remains a devastating disease with a 5-year survival rate of less than 5%. Recent advances in diagnostic methods and therapeutic approaches have increased the possibility of improving the existing poor prognosis. DATA  SOURCES: English-language articles reporting early diagnosis and therapy of pancreatic cancer were searched from the MEDLINE and PubMed databases, Chinese-language articleswerefromCHKD(ChinaHospitalKnowledgeDatabase). RESULT: The current literature about pancreatic cancer was reviewed from three aspects: statistics, screening and early detection, and therapy. CONCLUSIONS: Early detection and screening of pancreatic cancer currently should be limited to high risk patients. Surgical resection is the only curative approach available, with some recent improvement in outcomes. Gemcitabine has been a standard treatment during the last decade. Gemcitabine-based combination treatment, especially combined with newer molecular targeted agents, is promising. The rationale for radiotherapy is controversial, but with the recent development of modern radiation delivery techniques, radiotherapy should be intensified. Patients with borderline pancreatic cancer could benefit from neoadjuvant therapy but more evidence is needed and the best neoadjuvant regimen is still to be determined.

  14. Diagnosis and Updates in Celiac Disease.

    Science.gov (United States)

    Shannahan, Sarah; Leffler, Daniel A

    2017-01-01

    Celiac disease is an autoimmune disorder induced by gluten in genetically susceptible individuals. It can result in intraintestinal and extraintestinal manifestations of disease including diarrhea, weight loss, anemia, osteoporosis, or lymphoma. Diagnosis of celiac disease is made through initial serologic testing and then confirmed by histopathologic examination of duodenal biopsies. Generally celiac disease is a benign disorder with a good prognosis in those who adhere to a gluten-free diet. However, in refractory disease, complications may develop that warrant additional testing with more advanced radiologic and endoscopic methods. This article reviews the current strategy to diagnose celiac disease and the newer modalities to assess for associated complications. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Diagnosis of periodontal diseases: reaction paper.

    Science.gov (United States)

    Novak, M J

    1991-12-01

    With the recent description of 12 different forms and sub-forms of periodontitis by the World Workshop in Clinical Periodontics (1989), increased emphasis has been placed on diagnosis. Dr. Ranney's review addressed the specificity and sensitivity of current diagnostic tests with respect to their ability to differentiate between health and disease and between the individual disease states. Although considerable microbiologic and immunologic data have been accumulated in the past decade, very little of this information has proved to be sufficiently sensitive to be of use in differential diagnosis. Clinical measurements provide us with an insensitive, retrospective analysis of what has already occurred but allow us to diagnose disease based on its natural history. Measures of attachment levels, by use of conventional probes, are only sufficiently sensitive indicators of periodontitis when as much as 20-30% of attachment has already been lost. Current technological improvements in probing measurements and radiographic assessment may increase sensitivity in this area. Future improvements in diagnostic techniques will occur with the advent of sensitive biochemical analyses of gingival crevicular fluid. These assays will provide a more objective analysis of inflammation and, in time, will provide sufficient sensitivity to allow for differentiation between and among the various forms of periodontal disease. Future directions in diagnosis will focus on the identification of disease-susceptible individuals and the prediction of future periodontal breakdown.

  16. Molecular diagnosis of orbital inflammatory disease.

    Science.gov (United States)

    Rosenbaum, James T; Choi, Dongseok; Wilson, David J; Grossniklaus, Hans E; Sibley, Cailin H; Harrington, Christina A; Planck, Stephen R

    2015-04-01

    Orbital inflammatory diseases include thyroid eye disease (TED), granulomatosis with polyangiitis (GPA), sarcoidosis, and nonspecific orbital inflammation (NSOI). Histopathological diagnosis usually relies on the clinical context and is not always definitive. Gene expression profiling provides diagnostic and therapeutic information in several malignancies, but its role in evaluating nonmalignant disease is relatively untested. We hypothesized that gene expression profiling could provide diagnostic information for NSOI. We collected formalin-fixed, paraffin-embedded orbital biopsies from 10 institutions and 83 subjects including 25 with thyroid eye disease, 25 nonspecific orbital inflammation, 20 healthy controls, 6 with granulomatosis with polyangiitis, and 7 with sarcoidosis. Tissues were divided into discovery and validation sets. Gene expression was quantified using Affymetrix U133 Plus 2.0 microarrays. A random forest statistical algorithm based on data from 39 probe sets identified controls, GPA, or TED with an average accuracy of 76% (p=0.02). Random forest analysis indicated that 52% of tissues from patients with nonspecific inflammation were consistent with a diagnosis of GPA. Molecular diagnosis by gene expression profiling will augment clinical data and histopathology in differentiating forms of orbital inflammatory disease.

  17. Diagnosis and treatment of gastroesophageal reflux disease

    Institute of Scientific and Technical Information of China (English)

    Raul; Badillo; Dawn; Francis

    2014-01-01

    Gastroesophageal reflux disease(GERD) is a common disease with a prevalence as high as 10%-20% in the western world. The disease can manifest in various symptoms which can be grouped into typical,atypi-cal and extra-esophageal symptoms. Those with the highest specificity for GERD are acid regurgitation and heartburn. In the absence of alarm symptoms,these symptoms can allow one to make a presumptive diagnosis and initiate empiric therapy. In certain situations,further diagnostic testing is needed to confirm the diagnosis as well as to assess for complications or alternate causes for the symptoms. GERD complications include erosive esophagitis,peptic stricture,Barrett’s esophagus,esophageal adenocarcinoma and pulmonary disease. Management of GERD may involve lifestyle modification,medical therapy and surgical therapy. Life-style modifications including weight loss and/or head of bed elevation have been shown to improve esophageal pH and/or GERD symptoms. Medical therapy involves acid suppression which can be achieved with antacids,histamine-receptor antagonists or proton-pump inhibitors. Whereas most patients can be effectively managed with medical therapy,others may go on to require anti-reflux surgery after undergoing a proper pre-operative evaluation. The purpose of this review is to discuss the current approach to the diagnosis and treatment of gas-troesophageal reflux disease.

  18. Myocardial infarction : early diagnosis and cardioprotective strategies

    NARCIS (Netherlands)

    Oerlemans, M.I.F.J.

    2012-01-01

    In this thesis, we have investigated novel diagnostic and cardioprotective strategies to limit myocardial cell death and improve cardiac function after myocardial infarction. We demonstrated a new way to speed up the diagnosis of acute MI by using very small pieces of RNA (microRNAs). Using these mi

  19. Crohn Disease: Epidemiology, Diagnosis, and Management.

    Science.gov (United States)

    Feuerstein, Joseph D; Cheifetz, Adam S

    2017-07-01

    Crohn disease is a chronic idiopathic inflammatory bowel disease condition characterized by skip lesions and transmural inflammation that can affect the entire gastrointestinal tract from the mouth to the anus. For this review article, we performed a review of articles in PubMed through February 1, 2017, by using the following Medical Subject Heading terms: crohns disease, crohn's disease, crohn disease, inflammatory bowel disease, and inflammatory bowel diseases. Presenting symptoms are often variable and may include diarrhea, abdominal pain, weight loss, nausea, vomiting, and in certain cases fevers or chills. There are 3 main disease phenotypes: inflammatory, structuring, and penetrating. In addition to the underlying disease phenotype, up to a third of patients will develop perianal involvement of their disease. In addition, in some cases, extraintestinal manifestations may develop. The diagnosis is typically made with endoscopic and/or radiologic findings. Disease management is usually with pharmacologic therapy, which is determined on the basis of disease severity and underlying disease phenotype. Although the goal of management is to control the inflammation and induce a clinical remission with pharmacologic therapy, most patients will eventually require surgery for their disease. Unfortunately, surgery is not curative and patients still require ongoing therapy even after surgery for disease recurrence. Importantly, given the risks of complications from both Crohn disease and the medications used to treat the disease process, primary care physicians play an important role in optimizing the preventative care management to reduce the risk of complications. Copyright © 2017 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  20. Early and Periodic Screening, Diagnosis and Treatment

    Data.gov (United States)

    U.S. Department of Health & Human Services — The Early and Periodic Screening, Diagnostic and Treatment (EPSDT) benefit provides comprehensive and preventive health care services for children under age 21 who...

  1. [Diagnosis and early treatment of juvenile delinquency].

    Science.gov (United States)

    Barbagallo, A; Bellia, A; Benvenuto, G; Cosentino, F; Riggio, T M

    1975-09-12

    Longitudinal research has shown that social failure to adjust can be prevented by early removal of ambiental factors encouraging pathological development of the Ego, and the detection and treatment of psychological tendencies towards the acquisition of deviant stimuli.

  2. Potts disease: Diagnosis with magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Pursey, Jacqueline [MRI Department, Gartnavel General Hospitial, 1053 Great Western road, Glasgow G12 0YN (United Kingdom)], E-mail: Jacqueline.pursey@ggc.scot.nhs.uk; Stewart, Sharon [School of Health and Social Care, Caledonian University, Glasgow (United Kingdom)

    2010-02-15

    The eponymously named Potts disease is a relatively rare form of Tuberculosis (TB) which affects the spine. TB of the spine is one of the earliest diseases known to man and in the 20th century was thought to be a disease which had been defeated by the advent of antitubercular drugs. Over the last two decades there have been several reports which indicate a revival of TB in both the developing and developed world. Factors which may be contributing to this are the spread of the HIV virus, increased immigration and the emergence of drug resistant strains of the TB bacteria. Potts disease has an insidious onset and often the radiographic findings are far advanced when a diagnosis is finally reached. MRI is able to detect changes to the vertebrae in Potts disease earlier than radiographs. This case report outlines the clinical presentation of a young male with Potts disease who was HIV negative, and the important role that MRI plays in diagnosis and therefore in appropriate and timely intervention. The typical magnetic resonance (MR) imaging features and the radiographic hallmarks of the disease will also be discussed.

  3. Optimizing the diagnosis of celiac disease.

    Science.gov (United States)

    Lau, Michelle Shui Yee; Sanders, David S

    2017-05-01

    The diagnostic approach in celiac disease is continuously evolving as our understanding of its pathophysiology improves. This review aims to provide a summary of contemporary work that supports optimization of the diagnosis of this common yet underdiagnosed condition. The recently updated National Institute of Clinical Excellence and European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines and the contentious biopsy-free diagnostic approach will be discussed. We will review the evidence advocating optimal biopsy techniques such as single bite biopsy and controversial bulb biopsy sampling to increase diagnostic yield. Recent data providing phenotypical characterization and clinical outcomes of celiac subtypes such as potential celiac disease, seronegative celiac disease and ultrashort celiac disease will be covered. We will present emerging evidence on novel case finding strategies with point of care tests. Promising novel markers for celiac disease such as serum intestinal fatty acid binding protein and in-vitro gluten challenge will be included. Recent work has demonstrated the clinical significance of the celiac disease subtypes, emphasizing the importance of careful diagnosis and recognition. There is a move toward a less invasive and perhaps more cost-effective diagnostic approach in celiac disease, but duodenal biopsy remains the gold standard at present for all adults and the majority of pediatric patients.

  4. Imaging in the diagnosis of rare diseases.

    Science.gov (United States)

    Bekiesińska-Figatowska, Monika

    2015-01-01

    A disease is considered rare if it affects no more than 5 in 10,000 people. More than six thousand rare diseases have been detected so far and they affect 6-8% of the population which equals 2.3-3 million people in Poland. Some of the rare diseases are already diagnosed in utero, e.g. skeletal dysplasias on ultrasonography or central nervous system diseases on magnetic resonance imaging (MRI). Many cases are finally diagnosed after radiologist's suggestion in a radiological report. Although diagnostic imaging cannot be considered as a basis for diagnosis of most of rare diseases, these studies represent an important element in the diagnostic chain. The complicated and long process of diagnosis may be significantly shortened by suggestions of the radiologist, based on the observation of these elements of radiological appearance of the lesions that are characteristic for a particular group of diseases, or even for a particular disease entity. However, the absolute condition for success is the close clinical-radiological cooperation, with clinicians providing the radiologists with their knowledge of patient's history, clinical manifestations, and the results of other investigations.

  5. Coeliac disease: rational approach to the diagnosis

    Directory of Open Access Journals (Sweden)

    U. Volta

    2013-05-01

    Full Text Available BACKGROUND Celiac disease is a chronic food intolerance caused by gluten ingestion determining in genetically susceptible individuals a damage of small intestinal mucosa resulting in villous atrophy and malabsorption. This condition is more frequent in women (female/male ratio 2:1 with an onset at any age (from the first infancy to the elderly and a very high prevalence in the general population (1%, but at present largely underdiagnosed. From a clinical point of view, the identification of gluten-sensitive enteropathy is challenging since it can present with several gastrointestinal (diarrhoea, constipation, recurrent abdominal pain and extra-intestinal symptoms (anaemia, raised transaminases, osteoporosis, recurrent abortion, aphthous stomatitis and associated autoimmune disorders or being completely symptomless. Its diagnosis relies on antibody markers (anti tissue transglutaminase and anti endomysial antibodies and duodenal biopsy (the diagnostic “gold standard” with the typical villous atrophy, whereas HLA determination can only exclude the diagnosis when DQ2/DQ8 are absent. However, since not all antibodies and histological duodenal changes related to celiac disease are specific for gluten-sensitive enteropathy, the phenomenon of patients erroneously identified as coeliacs is increasing. CONCLUSIONS The implementation of a diagnostic algorythm for celiac disease, based on essential tests and applicable everywhere, with a different protocol for subjects at high risk (with malabsorption syndrome, at low risk (monosymptomatic and with familiarity for the disease has become mandatory in order to make a correct and earlier diagnosis.

  6. PET分子探针在阿尔茨海默病早期诊断中的研究进展%Novel PET molecular probes for early diagnosis of Alzheimer's disease

    Institute of Scientific and Technical Information of China (English)

    孔艳艳; 管一晖; 吴平

    2012-01-01

    Alzheimer disease(AD) is the most common type of dementia and will become increasingly prevalent with population aging.It is accepted that the pathologic changes underlying AD appear in the brain years to decades before the symptomatic stages.Clinical measures of cognitive impairment,as used for definition of dementia,will not allow early diagnosis of AD-pathology in the mild or asymptomatie stages.There has been growing interest in early diagnosis of this disease,particularly regarding the initiation of new treatment strategies ahead of the onset of irreversible neuronal damage.Brain imaging markers are among the most promising candidates for this diagnostic challenge.PET has been demonstrated to be a most sensitive,specific,noninvasive,objective and quantitative method for early identification of AD-pathology and molecular biology,thus for prediction of dementia of the Alzheimer type,even in the mild and asymptomatic stages.%阿尔茨海默病(AD)是最常见的痴呆类型,并随着人口老龄化将会变得越来越普遍.在AD 出现临床症状前数十年脑内就可发生病理改变,临床诊断标准不能准确诊检轻度AD及无症状AD.AD的早期诊断越来越受到重视,对发生在AD早期的不可逆性神经损伤前的干预治疗尤为重要.神经影像标志物是最有发展前途的诊断早期AD的方法,PET功能性神经影像是一种能够在早期进行AD病理及分子生物学检查的极具灵敏度、特异度、无创性、客观和定量的方法,因此能够诊断出早期的、轻微且无临床症状的老年痴呆症.

  7. Early diagnosis of Alzheimer's via PET probe

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    @@ Alzheimer's disease (AD),a neurodegenerative disorder that impairs memory,cognition and behavior,has become the most frequent senile dementia,currently crippling more than 20 million people across the world.Scientists have found that the accumulation of amyloid plaques in the brain features the pathological change of the disease.

  8. Clinical criteria for the diagnosis of Parkinson's disease.

    Science.gov (United States)

    Reichmann, Heinz

    2010-01-01

    The diagnosis of Parkinson's disease (PD) follows the UK Brain Bank Criteria, which demands bradykinesia and one additional symptom, i.e. rigidity, resting tremor or postural instability. The latter is not a useful sign for the early diagnosis of PD, because it does not appear before Hoehn and Yahr stage 3. Early symptoms of PD which precede the onset of motor symptoms are hyposmia, REM sleep behavioral disorder, constipation, and depression. In addition, an increasing number of patients whose PD is related to a genetic defect are being described. Thus, genetic testing may eventually develop into a tool to identify at-risk patients. The clinical diagnosis of PD can be supported by levodopa or apomorphine tests. Imaging studies such as cranial CT or MRI are helpful to distinguish idiopathic PD from atypical or secondary PD. SPECT and PET methods are valuable to distinguish PD tremor from essential tremor if this is clinically not possible. Using all of these methods, we may soon be able to make a premotor diagnosis of PD, which will raise the question whether early treatment is possible and ethically and clinically advisable. Copyright 2010 S. Karger AG, Basel.

  9. [Huntington disease: presymptomatic testing, prenatal diagnosis, preimplantation genetic diagnosis experience].

    Science.gov (United States)

    Durr, A; Viville, S

    2007-10-01

    Presymptomatic testing for Huntington disease has been available for 15 years. The possibility of determining the genetic status of an at-risk person for the disorder which runs in his or her family raises questions because of the absence of preventive treatments. In addition, being carrier does not allow to determine when the disease starts and how it will evolve, impairing the possibilities of planning the future. A pluridisciplinary approach to predictive testing with care before, during and after the test taking into account the medical, social and psychological aspects of the disease is good practice. At the present time, only a minority of at-risk individuals request presymptomatic testing and almost 50% do not pursue until the results. The consequences of the test may be harmful, more frequently after an unfavorable than after a favorable result. Motivations and the outcome in terms of request for prenatal testing after a carrier result are known today and the number or prenatal testing remains very limited. Preimplantation genetic testing is an alternative for couples who knows or do not their own genetic status. We report our experience in two French centres: Paris for presymptomatic and prenatal testing and Strasbourg for preimplantation diagnosis.

  10. 阿尔茨海默病DTI早期诊断的研究进展%The research progress of diffusion tensor imaging for early diagnosis of Alzheimer disease

    Institute of Scientific and Technical Information of China (English)

    张超; 穆学涛; 王宏

    2013-01-01

    Alzheimer disease (AD) is a chronic degenerative disease of central nervous system, with high incidence, diagnosed late, poor prognosis, which resulting in heavy burden of the family and the society. Magnetic resonance diffusion tensor imaging (DTI) is the only non-invasive method of displaying living brain white matter fiber currently. Studies have shown that DTI has a certain value for the diagnosis of Amnesia-mild cognitive impairment (aMCI) and AD, finding that the FA values decreased in the corpus callosum, the fornix and other areas in the brain of AD, which may providing some help for the early diagnosis of AD and the detection of pathological developments.%阿尔茨海默病(Alzheimer disease,AD)是一种慢性中枢神经系统退行性疾病,其发病率高,确诊较晚,预后差,给家庭及整个社会带来沉重负担。MR扩散张量成像(diffusion tensor iamging,DTI)是目前惟一无创性显示活体脑白质纤维的手段。研究显示DTI对遗忘型轻度认知障碍(amnesia-mild cognitive impairment,aMCI)及AD诊断有一定价值,发现aMCI及AD患者脑内胼胝体、穹窿等部位FA减低,或许对AD的早期诊断及病变发展的检测提供一定帮助。

  11. Kidney Disease: Early Detection and Treatment

    Science.gov (United States)

    ... Bar Home Current Issue Past Issues Special Section Kidney Disease: Early Detection and Treatment Past Issues / Winter ... called a "urine albumin-to-creatinine ratio." Treating Kidney Disease Kidney disease is usually a progressive disease, ...

  12. Psychosis in Parkinson's disease: diagnosis and treatment.

    Science.gov (United States)

    Doraiswamy, M; Martin, W; Metz, A; Deveaugh-Geiss, J

    1995-09-01

    1. This article reviews the prevalence, diagnosis, pathophysiology and management of psychosis in Parkinson's disease. 2. Psychosis in Parkinson's disease has been associated with all antiparkinsonian medications. The most common symptoms are vivid disturbing dreams, visual hallucinations and paranoid delusions. 3. The emergence of psychosis reduces the patient's functional capacity and increases caregiver burden. It also poses a therapeutic dilemma because effective treatment of psychotic symptoms may result in worsening of motor symptoms and vice versa. 4. Increased physician awareness is essential for proper diagnosis and management. Withdrawal of anticholinergic medications and amantadine followed by levodopa dose adjustment is effective in many patients. 5. Atypical neuroleptics, in low doses, may be successful when other measures have failed. However, these agents are not approved for treating Parkinsonian psychosis and must be considered as investigational therapies.

  13. Pelvic inflammatory disease: current concepts in pathogenesis, diagnosis and treatment.

    Science.gov (United States)

    Mitchell, Caroline; Prabhu, Malavika

    2013-12-01

    Pelvic inflammatory disease (PID) is characterized by infection and inflammation of the upper genital tract in women and can cause significant reproductive health sequelae for women. Although a definitive diagnosis of PID is made by laparoscopic visualization of inflamed, purulent fallopian tubes, PID is generally a clinical diagnosis and thus represents a diagnostic challenge. Therefore, diagnosis and treatment algorithms advise a high index of suspicion for PID in any woman of reproductive age with pelvic or abdominal pain. Antibiotic therapy should be started early, and given for an adequate period of time to reduce the risk of complications. Coverage for anaerobic organisms should be considered in most cases. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. Diagnosis of Parkinson's disease Using Tabu Search Algorithm

    Directory of Open Access Journals (Sweden)

    Amin Einipour

    2016-05-01

    Full Text Available Parkinson's disease is the second most common disease of the brain and nerves. The diseas is a progressive disease meaning that over time it becomes more difficult to treat. Although so far no definitive treatment for this disease but there are good drugs which if the condition is diagnosed early can help improve the lives of people affected. In recent years provided computer methods as medical decision support systems for fast and low-cost detection of the disease which uses speech disorders and accurate and fast analysis to be diagnosed Parkinson's disease early in the disease course. The purpose of this paper is development of a decision support system for the detection of Parkinson's disease. In the proposed system, relevant knowledge is the most important part of it. To obtain such knowledge, Tabu Search algorithm to be used. Tabu Search is able to search in a large space data of course, this search is also associated with a certain intelligence. Results on Parkinson's disease data set from UCI machine learning repository show that the proposed approach would be capable of diagnosis with high accuracy.

  15. Case for diagnosis. Riga-Fede disease.

    Science.gov (United States)

    Calistru, Ana Maria; Lisboa, Carmen; Bettencourt, Herberto; Azevedo, Filomena

    2012-01-01

    Riga-Fede disease is a rare, benign disorder characterized by reactive ulceration of the oral mucosa associated with repetitive dental traumatism. It was first described in children with neurologic disorders and is very rare in adults. This case report describes the occurrence of a large ulcer of the tongue, resembling squamous cell carcinoma, in an adult with hemiparesis. The lesion cleared after neurologic recovery. This case highlights the importance of considering this disorder in the differential diagnosis of oral mucosal ulcerations.

  16. Biomarkers of Early Diagnosis of Sporadic Alzheimer's Disease%散发性阿尔茨海默病早期诊断标志物的研究进展

    Institute of Scientific and Technical Information of China (English)

    郜丽妍; 李晓红; 刘萍

    2012-01-01

    散发性阿尔茨海默病早期诊断标志物的研究对延长患者生存时间,提高患者生活质量,减轻社会负担都具有重要意义.本文就目前各种可能的早期标志物进行综述,包括Aβ、tau蛋白、β内分泌酶、同型半胱氨酸、维生素B12、叶酸、胰岛素、人组织型激肽释放酶6等.鉴于其复杂性,仍有很多问题亟待我们去解决.%Alzheimer's disease has always been diagnosed at its moderate and severe stage,and medicines are not so effective, as a result,early diagnosis of this disease has a vital significance. In this article, we reviewed several possible biomarkers, including Aβ, tau protein, β-site amyloid precursor protein cleavage enzyme 1, Hey,Vitamin B12 ,foliate,insulin, HK6, etc. In view of its complexity,there are still a lot of problems that should be solved.

  17. Early Diagnosis of Autism Spectrum Disorder: Stability and Change in Clinical Diagnosis and Symptom Presentation

    Science.gov (United States)

    Guthrie, Whitney; Swineford, Lauren B.; Nottke, Charly; Wetherby, Amy M.

    2013-01-01

    Background: Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most…

  18. Early Diagnosis of Autism Spectrum Disorder: Stability and Change in Clinical Diagnosis and Symptom Presentation

    Science.gov (United States)

    Guthrie, Whitney; Swineford, Lauren B.; Nottke, Charly; Wetherby, Amy M.

    2013-01-01

    Background: Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most…

  19. Diagnosis of Late Stage, Early Onset, Small Fiber Polyneuropathy

    Science.gov (United States)

    2016-10-01

    additionally discovered SFPN that affects adolescents and adults [2]. This early-onset SFPN usually begins in adolescence or early adulthood but can...promote early diagnosis. What was the impact on other disciplines? Nothing to report. What was the impact on technology transfer? Nothing to report...What was the impact on society beyond science and technology ? As described above, Veterans’ health and, by extension, public health will be

  20. Diagnosis and management of polycystic liver disease.

    Science.gov (United States)

    Gevers, Tom J G; Drenth, Joost P H

    2013-02-01

    Polycystic liver disease (PLD) is arbitrarily defined as a liver that contains >20 cysts. The condition is associated with two genetically distinct diseases: as a primary phenotype in isolated polycystic liver disease (PCLD) and as an extrarenal manifestation in autosomal dominant polycystic kidney disease (ADPKD). Processes involved in hepatic cystogenesis include ductal plate malformation with concomitant abnormal fluid secretion, altered cell-matrix interaction and cholangiocyte hyperproliferation. PLD is usually a benign disease, but can cause debilitating abdominal symptoms in some patients. The main risk factors for growth of liver cysts are female sex, exogenous oestrogen use and multiple pregnancies. Ultrasonography is very useful for achieving a correct diagnosis of a polycystic liver and to differentiate between ADPKD and PCLD. Current radiological and surgical therapies for symptomatic patients include aspiration-sclerotherapy, fenestration, segmental hepatic resection and liver transplantation. Medical therapies that interact with regulatory mechanisms controlling expansion and growth of liver cysts are under investigation. Somatostatin analogues are promising; several clinical trials have shown that these drugs can reduce the volume of polycystic livers. The purpose of this Review is to provide an update on the diagnosis and management of PLD with a focus on literature published in the past 4 years.

  1. Diagnosis and nursing management of coeliac disease in children.

    Science.gov (United States)

    Paul, Siba Prosad; McVeigh, Lauren; Gil-Zaragozano, Elena; Basude, Dharamveer

    2016-02-01

    Coeliac disease is an autoimmune condition caused by the ingestion of gluten-containing foods and affects about 1% of children and young people in the UK. Classic symptoms include diarrhoea, bloating, weight loss and abdominal pain. However, extra-intestinal manifestations, such as iron deficiency anaemia, faltering growth, delayed puberty and mouth ulcers, are increasingly being recognised. Some children have an increased risk of developing coeliac disease, such as a strong family history, certain genetic conditions and type 1 diabetes, therefore there is a need for increased awareness and early diagnosis before symptoms occur. If coeliac disease is suspected, a child should have serological screening with anti-tissue transglutaminase titres. Diagnosis is traditionally confirmed by a small bowel biopsy while the child remains on a 'normal' diet that does not exclude gluten. More recently, for a selective group of children, modification of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition guidelines has enabled non-biopsy (serological) diagnosis of coeliac disease. Children's nurses have an important role in recognising and diagnosing coeliac disease earlier as well as offering ongoing dietary support. Enabling children to maintain a gluten-free diet is essential for general wellbeing and preventing long-term complications.

  2. Early Pregnancy Diagnosis in Bovines: Current Status and Future Directions

    Directory of Open Access Journals (Sweden)

    Ashok K. Balhara

    2013-01-01

    Full Text Available An early and accurate diagnosis of reproductive dysfunctions or aberrations is crucial to better reproductive management in livestock. High reproductive efficiency is a prerequisite for high life-time production in dairy animals. Early pregnancy diagnosis is key to shorten the calving interval through early identification of open animals and their timely treatment and rebreeding so as to maintain a postpartum barren interval close to 60 days. A buffalo, the most important dairy animal in the Indian subcontinent, is known for problems related to high calving interval, late puberty, and high incidence of anestrus. Lack of reliable cow-side early pregnancy diagnosis methods further aggravates the situation. Several methods of pregnancy diagnosis are being practiced in bovine species, yet none qualifies as the ideal pregnancy diagnosis method due to the inherent limitations of sensitivity, accuracy, specificity, speed, and ease of performing the test. The advancement of molecular techniques like proteomics and their applications in animal research has given a new hope to look for pregnancy biomarker molecules in these animals. This review attempts to examine common pregnancy diagnosis methods available for dairy animals, while assessing the usefulness of the modern technologies in detecting novel pregnancy markers and designing future strategies for research in this area.

  3. Diagnosis of Periodontal Diseases by Biomarkers

    Science.gov (United States)

    Kido, Jun-Ichi; Hino, Mami; Bando, Mika; Hiroshima, Yuka

    Many middle aged and old persons take periodontal diseases that mainly cause teeth loss and result in some systemic diseases. The prevention of periodontal diseases is very important for oral and systemic health, but the present diagnostic examination is not fully objective and suitable. To diagnose periodontal diseases exactly, some biomarkers shown inflammation, tissue degradation and bone resorption, in gingival crevicular fluid (GCF) and saliva are known. We demonstrated that GCF levels of calprotectin, inflammation-related protein, and carboxy-terminal propeptide of type I procollagen, bone metabolism-related protein, were associated with clinical condition of periodontal diseases, and suggested that these proteins may be useful biomarkers for periodontal diseases. Recently, determinations of genes and proteins by using microdevices are studied for diagnosis of some diseases. We detected calprotectin protein by chemiluminescent immunoassay on a microchip and showed the possibility of specific and quantitative detection of calprotectin in a very small amount of GCF. To determine plural markers in GCF by using microdevices contributes to develop accurate, objective diagnostic system of periodontal diseases.

  4. Importance of the dentist in early diagnosis of pemphigus vulgaris

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    Thiago de Santana Santos

    2009-10-01

    Full Text Available The vulgar pemphigus is a chronic, rare, vesicle-bubble disease of autoimmune origin and with a possibility of following a dangerous clinical course when it is not diagnosed and treated in its initial stage. It usually affects people from 40 to 60 years old, being rare in children. In the majority of cases, oral manifestations are the first signs of the disease, so that dentists play an important rol in its early diagnosis. The authors present a case report of vulgar pemphigus in a 17 year-old patient, attended by the Bucco-Maxillo-Facial Surgery Service of the “Fundação de Beneficência Hospital de Cirurgia” in Aracaju-SE, Brazil. The patient was admitted with a complaint of the presence of numerous scattered painful ulcers in the mouth that had developed in approximately two months, and reported that at first, blisters that broke quickly appeared, leading to extremely painful ulcerations. Incisional biopsies were performed in the jugal mucosa and retromolar regions, and also a complete hemogram to discard the hypothesis of leukemia. In view of the clinical and histopathological findings, the final diagnosis of pemphigus vulgaris was made. Before receiving specialized treatment, the patient presented marked worsening of the clinical condition, with exacerbation of intraoral signs and symptoms and development of skin lesions around the body surface. The patient was hospitalized in the “Hospital Universitário da Universidade Federal de Sergipe” and treated with prednisone, cimetidine and nystatin, showing significant improvement of symptoms in approximately two weeks. At present, the patient is under the care of an interdisciplinary team that includes dermatologists and dentists.

  5. Diagnosis of suspected venous thromboembolic disease in pregnancy

    Energy Technology Data Exchange (ETDEWEB)

    Scarsbrook, A.F. [Department of Radiology, Churchill Hospital, Oxford Radcliffe NHS Trust, Headington, Oxford (United Kingdom); Evans, A.L. [Department of Radiology, Churchill Hospital, Oxford Radcliffe NHS Trust, Headington, Oxford (United Kingdom); Owen, A.R. [Department of Radiology, Churchill Hospital, Oxford Radcliffe NHS Trust, Headington, Oxford (United Kingdom); Gleeson, F.V. [Department of Radiology, Churchill Hospital, Oxford Radcliffe NHS Trust, Headington, Oxford (United Kingdom)]. E-mail: fergus.gleeson@radiology.oxford.ac.uk

    2006-01-15

    Venous thromboembolic disease is a leading cause of maternal mortality during pregnancy. Early and accurate radiological diagnosis is essential as anticoagulation is not without risk and clinical diagnosis is unreliable. Although the disorder is potentially treatable, unnecessary treatment should be avoided. Most of the diagnostic imaging techniques involve ionizing radiation which exposes both the mother and fetus to finite radiation risks. There is a relative lack of evidence in the literature to guide clinicians and radiologists on the most appropriate method of assessing this group of patients. This article will review the role of imaging of suspected venous thromboembolic disease in pregnant patients, highlight contentious issues such as radiation risk, intravenous contrast use in pregnancy and discuss the published guidelines, as well as suggesting an appropriate imaging algorithm based on the available evidence.

  6. Imaging diagnosis of bronchial asthma and related diseases

    Energy Technology Data Exchange (ETDEWEB)

    Sakai, Fumikazu; Fujimura, Mikihiko; Kimura, Fumiko; Fujimura, Kaori; Hayano, Toshio; Nishii, Noriko; Machida, Haruhiko; Toda, Jo; Saito, Naoko [Tokyo Women' s Medical Coll. (Japan)

    2002-12-01

    We describe imaging features of bronchial asthma and related diseases. The practical roles of imaging diagnosis are the evaluation of severity and complications of bronchial asthma and differential diagnosis of diseases showing asthmatic symptoms other than bronchial asthma. (author)

  7. Haemophilus influenzae Disease (Including Hib) Diagnosis and Treatment

    Science.gov (United States)

    ... Search The CDC Cancel Submit Search The CDC Haemophilus influenzae Disease (Including Hib) Note: Javascript is disabled or ... Compartir On this Page Diagnosis Treatment Complications Diagnosis Haemophilus influenzae , including Hib, disease is usually diagnosed with one ...

  8. Understanding feline heartworm infection: disease, diagnosis, and treatment.

    Science.gov (United States)

    Lee, Alice C Y; Atkins, Clarke E

    2010-11-01

    Feline heartworm disease is a very different clinical entity from canine heartworm disease. In cats, the arrival and death of immature heartworms in the pulmonary arteries can cause coughing and dyspnea as early as 3 months postinfection. Adult heartworms suppress the function of pulmonary intravascular macrophages and thus reduce clinical disease in chronic feline heartworm infection. Approximately 80% of asymptomatic cats self-cure. Median survival time for symptomatic cats is 1.5 years, or 4 years if only cats living beyond the day of presentation are considered. Aberrant worm migration is more frequent than it is in dogs, and sudden death can occur with no prior clinical signs. The bacterial endosymbiont Wolbachia likely contributes to the inflammatory pathology of heartworm disease, but its role is not yet fully clear. Unfortunately, the diagnosis, treatment, and management of feline heartworm disease are far from simple. Antemortem diagnosis is hampered by low worm burdens, the frequency of all-male infections, and nonspecific radiographic lesions. It is up to the veterinarian to determine the correct index of suspicion and choose the right combination of diagnostic tests to achieve an answer. Treatment is symptomatic because adulticide therapy is risky and does not increase survival time. Despite the dangers of feline heartworm disease, less than 5% of cats in the United States are on chemoprophylaxis. It is important for veterinarians to take a proactive preventive stance because heartworm infection in cats is a multisystemic disease that has no easy cure.

  9. Early diagnosis of tendon pathologies with sonoelastography

    Directory of Open Access Journals (Sweden)

    Zeynep ilerisoy Yakut

    2015-04-01

    RESULTS: Achilles tendon thicknesses measured at three segments (proximal, middle ,distal. did not show any statistically significant difference in both painless and symptomatic side. Proximal part of achilles tendon's elasticity did not show any difference in both side (p=0.31. In middle and distal segment , the elasticity was statistically different in symptomatic side than normal side p=0.005 and p=0.001 respectively. CONCLUSION: Sonoelastographic examination of Achilles tendons in patients with FMF suffering from talalgia may be useful for determining early dejenerative changes in tendons either in the absence of B-mode ultrasound findings. [TAF Prev Med Bull 2015; 14(2.000: 75-80

  10. [Diagnosis and treatment of Pompe disease].

    Science.gov (United States)

    Bravo-Oro, Antonio; de la Fuente-Cortez, Beatriz; Molina-García, Avril; Romero-Díaz, Víktor; Rodríguez-Leyva, Ildefonso; Esmer-Sánchez, María del Carmen

    2013-01-01

    Pompe disease is a rare, progressive and often fatal neuromuscular disorder. It is caused by a deficiency of the lysosomal alpha-glucosidase. Among glycogen storage disorders, it is one of the most common. Its clinical manifestations can start at any moment of life, with a very variable symptomatology. In this article, we show an extended revision of the literature in regards to the main medical aspects of Pompe disease: etiology, psychopathology, epidemiology, clinical variants, pathological diagnosis, and enzyme replacement therapy. With this information, we created a diagnostic and therapeutic guide, which is addressed to specialists and to first-level physicians, in order to let them identify both the classic and the late forms of this disease. We describe as well the best, timely, multidisciplinary treatment in use. Also, we show some suggestions to the proper functioning of health institutions, and routes to diagnosis. We conclude that Pompe disease may be properly diagnosed and treated if health care professionals follow the internationally approved recommendations.

  11. The significance of early diagnosis and treatment for neonatal ABO hemolytic disease%新生儿ABO溶血病早期诊断和治疗的意义

    Institute of Scientific and Technical Information of China (English)

    李薇; 陈自励

    2011-01-01

    Objective To study the effect of early diagnosis and treatment for neonatal ABO incompatibility hemolysis. Methods The medical records of neonatal ABO hemolysis who were born in our hospital from Jan 2001 through Dec 2010 were reviewed. The diagnostic criteria were accorded with all the following: early occurrence significant jaundice after birth with evidence of hemolytic anemia; maternal-neonatal ABO incompatibility; positive Coombs test and / or antibody release test; with or without maternal history of abortion or fetal death of unknown cause or history of previous newborn with significant jaundice or with established ABO hemolysis; the other causes of hemolysis and hepato-biliary diseases were excluded. The serum bilirubin level were monitered closely for each case. As the bilirubin level close to the phototherapy level, phototherapy and other adjunctive treatment were given. The changes of serum bilirubin level and adverse reaction during photothrapy and outcomes were recorded. Results Totally 512 newborns including 78 prematures with ABO hemolytic disease were enrolled in this study. When starting photothrapy, the mean serum bilirubin level was (176. 1 ± 42. 2) jxmol/L. During photothrapy, usually the bilirubin first with the mean peak bilirubin level of (261. 1 ±37.4) jxmol/L, then gradually fell with the mean fell of (22. 1 ± 12. 2) |xmol/L per day for the whole course. The adverse reactions were slight. The mean photothrapy course was (3. 5 ±1. 1) days. Finially all the cases were improved, without needing exchange transfusion or development of kernicterus or death. Conclusions By way of early diagnosis and early phototherapy for neonatal ABO hemolytic disease, The exchange transfusion can be minimized without developing kernicterus.%目的 探讨新生儿ABO溶血病早期诊断和治疗的效果.方法 选择2001-2010年本院分娩新生儿中的ABO溶血病,密切监测患儿血清胆红素变化,在接近光疗标准时,及早给予光疗为主

  12. Comparison of clinical and paraclinical parameters as tools for early diagnosis of classical swine fever

    DEFF Research Database (Denmark)

    Lohse, Louise; Uttenthal, Åse; Nielsen, Jens

    Comparison of clinical and paraclinical parameters as tools for early diagnosis of classical swine fever. Louise Lohse, Åse Uttenthal, Jens Nielsen. National Veterinary Institute, Division of Virology, Lindholm, Technical University of Denmark. Introduction: In order to limit the far-reaching socio......-economic as well as the animal welfare consequences of an outbreak of classical swine fever (CSF), early diagnosis is essential. However, host-virus interactions strongly influence the course of CSF disease, and the clinical feature is not clear, thus complicating the diagnostic perspective. At the National...... were investigated for their potential as indicators for early diagnosis of CSF. Together, they constitute a promising panel for detection of CSF, however, one single parameter does not by itself hold the potential as a safe indicator of CSF in the early phase of infection. In addition, the results...

  13. Diagnosis and classification of Goodpasture's disease (anti-GBM).

    Science.gov (United States)

    Hellmark, Thomas; Segelmark, Mårten

    2014-01-01

    Goodpasture's disease or anti-glomerular basement membrane disease (anti-GBM-disease) is included among immune complex small vessel vasculitides. The definition of anti-GBM disease is a vasculitis affecting glomerular capillaries, pulmonary capillaries, or both, with GBM deposition of anti-GBM autoantibodies. The disease is a prototype of autoimmune disease, where the patients develop autoantibodies that bind to the basement membranes and activate the classical pathway of the complement system, which start a neutrophil dependent inflammation. The diagnosis of anti-GBM disease relies on the detection of anti-GBM antibodies in conjunction with glomerulonephritis and/or alveolitis. Overt clinical symptoms are most prominent in the glomeruli where the inflammation usually results in a severe rapidly progressive glomerulonephritis. Despite modern treatment less than one third of the patients survive with a preserved kidney function after 6 months follow-up. Frequencies vary from 0.5 to 1 cases per million inhabitants per year and there is a strong genetic linkage to HLA-DRB1(∗)1501 and DRB1(∗)1502. Essentially, anti-GBM disease is now a preferred term for what was earlier called Goodpasture's syndrome or Goodpasture's disease; anti-GBM disease is now classified as small vessel vasculitis caused by in situ immune complex formation; the diagnosis relies on the detection of anti-GBM in tissues or circulation in conjunction with alveolar or glomerular disease; therapy is effective only when detected at an early stage, making a high degree of awareness necessary to find these rare cases; 20-35% have anti-GBM and MPO-ANCA simultaneously, which necessitates testing for anti-GBM whenever acute test for ANCA is ordered in patients with renal disease. Copyright © 2014 Elsevier Ltd. All rights reserved.

  14. 新生儿枫糖尿症早期诊断2例并文献复习%The early diagnosis for maple syrup urine disease of neonates:report of two cases and review of literture

    Institute of Scientific and Technical Information of China (English)

    于文婷; 毛健

    2014-01-01

    Objective To analyze and summarize clinical manifestation, MRS findings and gene characteristics of maple syrup urine disease(MSUD) of neonates, and proceed early screening, diagnosis and treatment.Method The MSUD neonates received tandem mass spectrum and gas chromatography examination, gene detection and the MRS examination. Result Their main clinical features are poor feeding, and nervous system and associated metabolic disorders. Two cases both received tandem mass spectrum and gas chromatography examination and met the diagnosis of MSUD. The gene testing showed both mutation of the BCKDHA gene. Their magnetic resonance showed a wide range of brain white matter involvement, especially the myelin sheath mature site and magnetic resonance spectroscopy showed an abnormal branched-chain amino acids (BCAA) and branched- chain alpha-keto acids (BCKA) peak at 0.99 ppm. Conclusion Newborns with MSUD often had early appeared non-specific symptoms with poor feeding, decreased responsiveness and convulsions.The specific manifestations of MRS and MR can help us to have an early diagnosis and treatment. The gene analysis of MSUD allowed preliminary understanding of gene mutations in the MSUD families and made prenatal diagnosis which is helpful for consultation in the second pregnancy.%目的:探讨新生儿期枫糖尿症临床特点、影像学头核磁频谱特点,以及基因遗传学特征,以便做到早发现、早诊断和早治疗。方法新生儿期枫糖尿症患儿血和尿的遗传代谢筛查、基因学检测和头磁共振频谱检查。结果2例患儿临床存在喂养困难和神经系统异常表现,并存在代谢紊乱。2例患儿血和尿代谢筛查结果符合枫糖尿病诊断,早期完善头部磁共振及频谱检查,发现头磁共振表现为广泛的脑白质受累,尤其是髓鞘发育成熟部位,频谱上均发现了0.9 ppm 处相对特异性波峰。基因学检查发现病例1BCKDHA 基因的一个杂合突变:2

  15. Rheumatic heart disease in Tennessee: An overlooked diagnosis

    Directory of Open Access Journals (Sweden)

    Shahana A Choudhury

    2014-03-01

    Full Text Available Rheumatic heart disease, already a major burden in low- and middle-income countries, is becoming an emerging problem in high-income countries. Although acute rheumatic fever and rheumatic heart disease have almost been eradicated in areas with established economies, the emergence of this problem may be attributable to the migration from low-income to high-income settings. Between 2010 and 2012, we diagnosed a cluster of rheumatic heart disease cases in children from the Middle Tennessee area. The goal of this report is to increase awareness among clinicians as the incidence and prevalence of acute rheumatic fever remain relatively significant in large US metropolitan areas. Although acute rheumatic fever is seasonal, a high suspicion index may lead to the early diagnosis and prevention of its cardiac complications. Furthermore, screening procedures may be recommended for populations at risk for rheumatic heart disease in endemic areas, and active surveillance with echocardiography-based screening might become very important.

  16. Evaluation and Diagnosis of HIV-Associated Lung Disease.

    Science.gov (United States)

    Maximous, Stephanie; Huang, Laurence; Morris, Alison

    2016-04-01

    There are myriad pulmonary conditions associated with HIV, ranging from acute infections to chronic noncommunicable diseases. The epidemiology of these diseases has changed significantly in the era of widespread antiretroviral therapy. Evaluation of the HIV-infected patient involves assessment of the severity of illness and a thorough yet efficient pursuit of definitive diagnosis, which may involve multiple etiologies simultaneously. Important clues to a diagnosis include medical and social history, demographic details such as travel and geography of residence, substance use, sexual practices, and domiciliary and incarceration status. CD4 cell count is a tremendously useful measure of immune function and risk for HIV-related diseases, and helps narrow down the differential. Careful history of current symptoms and physical examination with particular attention to extrapulmonary signs are crucial early steps. Many adjunctive laboratory studies can suggest or rule out particular diagnoses. Pulmonary function testing (PFT) may aid in characterization of several chronic noninfectious illnesses accelerated by HIV. Chest radiograph and computed tomography (CT) scan allow for classification of diseases by pathognomonic imaging patterns, although many infectious conditions present atypically, particularly with lower CD4 counts. Ultimately, definitive diagnosis with sputum, bronchoscopy with bronchoalveolar lavage, or lung tissue is often needed. It is of utmost importance to maintain a high degree of suspicion for HIV in otherwise undiagnosed patients, as the first presentation of HIV may be via an acute pulmonary illness.

  17. Current studies of biomarkers for the early diagnosis of rheumatoid arthritis

    Directory of Open Access Journals (Sweden)

    Chandrashekara S

    2014-09-01

    Full Text Available S Chandrashekara ChanRe Rheumatology and Immunology Center and Research, Basaveshwaranagar, Bangalore, India Abstract: Early treatment of rheumatoid arthritis (RA with disease-modifying antirheumatic drugs will improve the outcome significantly. Early diagnosis of RA continues to be a challenge. The disease needs to be distinguished from other self-limiting arthritis and connective tissue disease. Currently available autoantibodies like rheumatoid factors and anticitrullinated cyclic peptide have limited sensitivity and specificity. RA, being a heterogeneous disease, with no unique or distinct defect that has been described, is less likely to have a single pathognomonic marker. There are defined predisposing genetic factors, cell characteristics, cytokine changes, autoantibodies, and products of disease process that have been demonstrated to distinguish rheumatoid from normal and other arthritis. Studies have demonstrated that combinations of factors allow for more specific RA diagnosis; however, when considerations are given to the factors separately, sensitivity increases at the cost of specificity. The present review briefly describes the value of some of the candidate factors and their combinations as diagnostic markers of early RA. Well-designed multicenter studies to evaluate these combinations using a scoring system are recommended for the development of precise and widely applicable biomarkers for early diagnosis of RA. Keywords: autoantibodies, combination, early RA, specificity

  18. Gastric cancer: prevention, screening and early diagnosis.

    Science.gov (United States)

    Pasechnikov, Victor; Chukov, Sergej; Fedorov, Evgeny; Kikuste, Ilze; Leja, Marcis

    2014-10-14

    Gastric cancer continues to be an important healthcare problem from a global perspective. Most of the cases in the Western world are diagnosed at late stages when the treatment is largely ineffective. Helicobacter pylori (H. pylori) infection is a well-established carcinogen for gastric cancer. While lifestyle factors are important, the efficacy of interventions in their modification, as in the use of antioxidant supplements, is unconvincing. No organized screening programs can be found outside Asia (Japan and South Korea). Although several screening approaches have been proposed, including indirect atrophy detection by measuring pepsinogen in the circulation, none of them have so far been implemented, and more study data is required to justify any implementation. Mass eradication of H. pylori in high-risk areas tends to be cost-effective, but its adverse effects and resistance remain a concern. Searches for new screening biomarkers, including microRNA and cancer-autoantibody panels, as well as detection of volatile organic compounds in the breath, are in progress. Endoscopy with a proper biopsy follow-up remains the standard for early detection of cancer and related premalignant lesions. At the same time, new advanced high-resolution endoscopic technologies are showing promising results with respect to diagnosing mucosal lesions visually and targeting each biopsy. New histological risk stratifications (classifications), including OLGA and OLGIM, have recently been developed. This review addresses the current means for gastric cancer primary and secondary prevention, the available and emerging methods for screening, and new developments in endoscopic detection of early lesions of the stomach.

  19. [Colonic diverticular disease: diagnosis and therapy].

    Science.gov (United States)

    Lakatos, László; Lakatos, Péter László

    2012-02-12

    Colonic diverticular disease is one of the most common gastrointestinal disorders in the Western world, affecting approximately 50% of the population above the age of 70 years. Symptoms develop only in about one quarter of the affected individuals with complications in one-third of the symptomatic patients. Diagnosis is mostly confirmed by colonoscopy. Abdominal CT is the most sensitive for the diagnosis of complicated severe diverticulitis, while colonoscopy or in severe cases angiography may be performed in bleeding patients. Initial therapy of non-complicated symptomatic diverticulitis includes antibiotics and more recently non-absorbable antibiotics. In complicated cases should be treated with broad spectrum i.v. antibiotics, however surgery may became necessary in a minority of the cases. The proportion of patients needing acute surgical intervention has decreased in the last decades with the advancement of conservative management including medical therapy, endoscopy and imaging techniques and the indication of elective was also changed.

  20. Cucumber disease diagnosis using multispectral images

    Science.gov (United States)

    Feng, Jie; Li, Hongning; Shi, Junsheng; Yang, Weiping; Liao, Ningfang

    2009-07-01

    In this paper, multispectral imaging technique for plant diseases diagnosis is presented. Firstly, multispectral imaging system is designed. This system utilizes 15 narrow-band filters, a panchromatic band, a monochrome CCD camera, and standard illumination observing environment. The spectral reflectance and color of 8 Macbeth color patches are reproduced between 400nm and 700nm in the process. In addition, spectral reflectance angle and color difference is obtained through measurements and analysis of color patches using spectrometer and multispectral imaging system. The result shows that 16 narrow-bands multispectral imaging system realizes good accuracy in spectral reflectance and color reproduction. Secondly, a horticultural plant, cucumber' familiar disease are the researching objects. 210 multispectral samples are obtained by multispectral and are classified by BP artificial neural network. The classification accuracies of Sphaerotheca fuliginea, Corynespora cassiicola, Pseudoperonospora cubensis are 100%. Trichothecium roseum and Cladosporium cucumerinum are 96.67% and 90.00%. It is confirmed that the multispectral imaging system realizes good accuracy in the cucumber diseases diagnosis.

  1. Exhaled nitric oxide in diagnosis and management of respiratory diseases

    Directory of Open Access Journals (Sweden)

    Abba Abdullah

    2009-01-01

    Full Text Available The analysis of biomarkers in exhaled breath constituents has recently become of great interest in the diagnosis, treatment and monitoring of many respiratory conditions. Of particular interest is the measurement of fractional exhaled nitric oxide (FENO in breath. Its measurement is noninvasive, easy and reproducible. The technique has recently been standardized by both American Thoracic Society and European Respiratory Society. The availability of cheap, portable and reliable equipment has made the assay possible in clinics by general physicians and, in the near future, at home by patients. The concentration of exhaled nitric oxide is markedly elevated in bronchial asthma and is positively related to the degree of esinophilic inflammation. Its measurement can be used in the diagnosis of bronchial asthma and titration of dose of steroids as well as to identify steroid responsive patients in chronic obstructive pulmonary disease. In primary ciliary dyskinesia, nasal NO is diagnostically low and of considerable value in diagnosis. Among lung transplant recipients, FENO can be of great value in the early detection of infection, bronchioloitis obliterans syndrome and rejection. This review discusses the biology, factors affecting measurement, and clinical application of FENO in the diagnosis and management of respiratory diseases.

  2. Diagnosis and biomarkers of predementia in Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Gattaz Wagner F

    2010-12-01

    Full Text Available Abstract In view of the growing prevalence of Alzheimer's disease (AD worldwide, there is an urgent need for the development of better diagnostic tools and more effective therapeutic interventions. At the earliest stages of AD, no significant cognitive or functional impairment is detected by conventional clinical methods. However, new technologies based on structural and functional neuroimaging, and on the biochemical analysis of cerebrospinal fluid (CSF may reveal correlates of intracerebral pathology in individuals with mild, predementia symptoms. These putative correlates are commonly referred to as AD-related biomarkers. The relevance of the early diagnosis of AD relies on the hypothesis that pharmacological interventions with disease-modifying compounds are likely to produce clinically relevant benefits if started early enough in the continuum towards dementia. Here we review the clinical characteristics of the prodromal and transitional states from normal cognitive ageing to dementia in AD. We further address recent developments in biomarker research to support the early diagnosis and prediction of dementia, and point out the challenges and perspectives for the translation of research data into clinical practice.

  3. Questions from the clinician to the radiologist regarding the diagnosis of metabolic bone diseases

    Energy Technology Data Exchange (ETDEWEB)

    Schulz, W.; Schmidt, M.

    1986-12-01

    Macromorphological X-ray findings in metabolic bone diseases can be established only in advanced stages. Micromorphological X-ray diagnostic procedures will support the diagnosis even in early stages. Mineralometric examinations are adjuvant methods for early diagnosis and survey of therapy in metabolic bone diseases. The synopsis of parameters of calcium phosphate metabolism, bone histology (histomorphometry) and radiological morphology enables the type and stage of osteopathy to be diagnosed. The supplementary diagnostic methods are helpful in distinguishing bone diseases with increased turnover, inpaired bone modelling and absorption, disturbed mineralization and ectopic calcification. Within the metabolic osteopathies, osteoporosis is gaining more and more importance as a socioeconomic problem; therefore, early diagnosis and treatment are of significant relevance. Hyper-, hypoparathyroidism and osteoidosis are diseases at can be cured if diagnosed early.

  4. How to Reach Rapid Diagnosis in Sickle Cell Disease?

    Directory of Open Access Journals (Sweden)

    Khodamorad Zandian

    2010-03-01

    Full Text Available Objective: Sickle cell disease (SCD is a common hereditary disease in Iran. In developed countries, newborn screening programs have been established to ensure early diagnosis, but in most developing countries, screening is not performed and the diagnosis is often delayed. The aim of the present work was to investigate the clinical presentation of SCD in Iran and comparison of its hematologic indices with normal children.Methods: The study included 44 pediatric patients (26 boys and 18 girls with sickle cell anemia (SS, 27 sickle /β°-thalassemia (Sβ°, and 21 sickle /β+-thalassemia (Sβ+. Fifty seven healthy individuals matched with the patients were randomly selected as controls. Findings: Mean age at diagnosis in SS group was 4.3 years. At the time of diagnosis all patients were anemic, 89% complained of painful crises. Hemoglobin(Hb concentration, red blood cell (RBC count and Hb×RBC product in SS group was significantly lower than in control group (P<0.001, mean corpuscular volume (MCV and mean corpuscular hemoglobin (MCH showed no significant differences. Hb×RBC product below 45 and MCH/RBC above 7 have the best sensitivity and specificity for differenting SS group and the control normal group (91 and 98% for Hb×RBC and 89 and 100% for MCH/RBC respectively. Mean age at diagnosis in Sβ+ group was higher than in SS and Sβ° groups (7.45 year vs 4.26 and 4.25 year (P<0.001. In addition, Sβ° and Sβ+ groups had significantly lower MCV, MCH, and Hb×RBC indices compared with control group.Conclusion: We suggest that in an anemic patient with history of pain crises, normochrome normocytic anemia, Hb×RBC <45 and MCH/RBC ≥7, SCD should be considered and the patient evaluated accordingly to confirm the diagnosis.

  5. Advanced Endoscopic Imaging for Diagnosis of Crohn's Disease

    Directory of Open Access Journals (Sweden)

    Helmut Neumann

    2012-01-01

    Full Text Available Endoscopy in IBD has tremendous importance to diagnose inflammatory activity, to evaluate therapeutic success and for the surveillance of colitis associated cancer. Thus it becomes obvious that there is a need for new and more advanced endoscopic imaging techniques for better characterization of mucosal inflammation and early neoplasia detection in IBD. This paper describes the concept of advanced endoscopic imaging for the diagnosis and characterization of Crohn's disease, including magnification endoscopy, chromoendoscopy, balloon-assisted enteroscopy, capsule endoscopy, confocal laser endomicroscopy, and endocytoscopy.

  6. Diagnosis of Charcot-Marie-Tooth Disease

    Directory of Open Access Journals (Sweden)

    Isabel Banchs

    2009-01-01

    Full Text Available Charcot-Marie-Tooth (CMT disease or hereditary motor and sensory neuropathy (HMSN is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifestations include clumsiness of gait, predominantly distal muscular atrophy of the limbs, and deformity of the feet in the form of foot drop. It can be classified according to the pattern of transmission (autosomal dominant, autosomal recessive, or X linked, according to electrophysiological findings (demyelinating or axonal, or according to the causative mutant gene. The classification of CMT is complex and undergoes constant revision as new genes and mutations are discovered. In this paper, we review the most efficient diagnostic algorithms for the molecular diagnosis of CMT, which are based on clinical and electrophysiological data.

  7. Automated system for periodontal disease diagnosis

    Science.gov (United States)

    Albalat, Salvador E.; Alcaniz-Raya, Mariano L.; Juan, M. Carmen; Grau Colomer, Vincente; Monserrat, Carlos

    1997-04-01

    Evolution of periodontal disease is one of the most important data for the clinicians in order to achieve correct planning and treatment. Clinical measure of the periodontal sulcus depth is the most important datum to know the exact state of periodontal disease. These measures must be done periodically study bone resorption evolution around teeth. Time factor of resorption indicates aggressiveness of periodontitis. Manual probes are commonly used with direct reading. Mechanical probes give automatic signal but this method uses complicated and heavy probes that are only limited for University researchers. Probe position must be the same to have right diagnosis. Digital image analysis of periodontal probing provides practical, accurate and easy tool. Gum and plaque index could also be digitally measured with this method.

  8. Application Value of Urinary Cystatin C in Early Diagnosis of Kidney Disease%尿液CysC在肾病早期诊断中的应用价值

    Institute of Scientific and Technical Information of China (English)

    文凯良; 彭佑铭

    2011-01-01

    Objective To explore the clinical application value of urinary cystatin C (Cys C) in early impaired kidney function. Methods The serum creatinine (Scr), serum Cys C, and urirary cystatin C in 130 patients with kidney disease and 80 healthy individuals were detected by automatic clinical chemistry analyzer (Hitachi 7600 - 020). Results The mean levels of urinary Cys C, serum Cys C and Scr were increased gradually with renal hypofunction. Moreover, urinary Cys C was positively correlated with these two indexes and it was a more sensitive marker to reflect the kidney impairment. Conclusions Compared with serum Scr and Cys C, urinary Cys C is more sensitive to evaluate the inchoate damages on renal function and it is a better index for the diagnosis of kidney diseases.%目的 探讨尿液半胱氨酸蛋白酶抑制剂C(Cystain C,CysC)对早期肾功能受损的临床应用价值.方法 用Hitachi 7600-020全自动生化分析仪检测130例肾病患者和80例健康体检人的血清Cr、血清CysC和尿液CysC的水平.结果 尿液CysC浓度与血清Cr、血清CysC的水平随肾功能的减退而逐渐升高,呈正相关,但其敏感性更好.结论 尿液CysC浓度比血清Cr、血清CysC更能反映肾病早期损害的情况,且对肾病的阳性检出率更高.

  9. 不完全性川崎病的临床特征、早期诊断及治疗%Clinical Features,Early Diagnosis and Treatment of Incomplete Kawasaki Disease in Children

    Institute of Scientific and Technical Information of China (English)

    余莉; 王一斌; 乔莉娜; 华益民; 朱琦; 石晓青; 周开宇; 刘瀚旻

    2015-01-01

    Objective To explore the clinical features, early diagnosis and treatment of incomplete Kawasaki disease ( iKD) in children in order to early recognition and diagnosis of iKDs. Methods Retrospectively study on children with KD( Ka-wasaki disease)including 174 cases of iKD patients and 317 cases of cKD(complete Kawasaki disease)patients admitted in the West China Second University hospital from May,2011 to April,2014. The sex,age,clinical features,laboratory tests in acute phase,IVIG( intravenous immunoglobulin) treatment and CALs( coronary artery lesions) were analysed between the iKDsand cKDs, respectively. Results ①There were no significant differences in sex and age between iKDs and cKDs(P>0. 05),but the inci-dences of exanthema,bilateral bulbar conjunctival injection,oral and pharyngeal hyperemia,strawberry tongue,erythema of palms and soles,cervical lymphadenopathy in iKDs were lower than in cKDs(P 0. 05).③The time of diagnosis in iKDswere later than in cKDs. There were no significant difference in the incidence of CALs,response of IVIG and duration of fever betweeniKDs and cKDs(P>0. 05). Conclusion The incidences of typical clinical symptoms of KD in iKDswere lower than in cKDs. These la-boratory tests including WBC,Hct,ESR,AST,ALT,PA,HDL,sterile pyuria are help for diagnosis of iKDs. The CALs caused by iKDs were decreased by using of IVIG within 10 days after initial fever.%目的:探讨不完全性川崎病的临床特征、诊断及治疗,为临床医生识别和早期诊断提供依据。方法回顾性分析2011年4月至2014年3月在我医院住院治疗的川崎病( Kawasaki disease,KD)患者临床资料,对174例不完全性川崎病( incomplete Kawasaki disease,iKD)及317例完全性川崎病( complete Kawasaki disease,cKD)的性别、发病年龄、临床表现、急性期实验室检查、IVIG( intravenous immunoglobulin)治疗及冠状动脉损伤( coronary artery lesions,CALs)进行比较。结果①iKD与cKD患者性别及年

  10. [Immunological Techniques that Support the Diagnosis of the Autoimmune Diseases].

    Science.gov (United States)

    Hernández Ramírez, Diego F; Cabiedes, Javier

    2010-01-01

    During the past few years technological advance have been allowed the developing of techniques that help to the diagnosis of multiple diseases. In the case of the autoimmune diseases, immunological techniques are helpful since they allow the detection of multiple autoantibodies at the same time with small volumes of sample. Together with the development of the new techniques, sensitivity and specificity in the detection of the antibodies specificities' also have been increased, in such a way that the clinicians can count with tests that allow them to make early diagnoses with greater certainty and also to follow the course of the disease based on the variation of the antibodies presents in the patient's samples. It is important to emphasize that the new techniques of laboratory that are used for the support of the diagnosis of autoimmune diseases, no longer are exclusive for research laboratories but by their facility of standardization, quality control and reproducibility they can be used in clinical laboratory of medium and small sizes. In the present paper we describe those techniques with greater application in the clinical laboratory of autoimmune diseases.

  11. CSF Biomarkers for Alzheimer's Disease Diagnosis

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    A. Anoop

    2010-01-01

    Full Text Available Alzheimer's disease (AD is the most common form of dementia that affects several million people worldwide. The major neuropathological hallmarks of AD are the presence of extracellular amyloid plaques that are composed of Aβ40 and Aβ42 and intracellular neurofibrillary tangles (NFT, which is composed of hyperphosphorylated protein Tau. While the amyloid plaques and NFT could define the disease progression involving neuronal loss and dysfunction, significant cognitive decline occurs before their appearance. Although significant advances in neuroimaging techniques provide the structure and physiology of brain of AD cases, the biomarker studies based on cerebrospinal fluid (CSF and plasma represent the most direct and convenient means to study the disease progression. Biomarkers are useful in detecting the preclinical as well as symptomatic stages of AD. In this paper, we discuss the recent advancements of various biomarkers with particular emphasis on CSF biomarkers for monitoring the early development of AD before significant cognitive dysfunction.

  12. Necrobiosis Lipoidica: Early Diagnosis and Treatment with Tacrolimus

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    A. Patsatsi

    2011-04-01

    Full Text Available We present a case of necrobiosis lipoidica (NL with atypical early lesions and good response to topical tacrolimus. NL is a disease with clinical features that are seldom misinterpreted. Often histology just confirms the clinician’s diagnosis. Only in rare cases, the clinical presentation and the involved body sites may be misleading. A 67-year-old diabetic woman was admitted to our department with a well-defined, persistent plaque on her left arm and on her right shin. Histologic examination of both lesions revealed features of NL despite the dissimilar clinical presentation. The patient was treated with 0.1% topical tacrolimus ointment twice daily for 8 weeks and once daily for 8 weeks. A significant improvement and no further lesions were observed after 1 year of follow-up. A high index of suspicion regarding NL lesions with atypical clinical presentation on different body sites is advised in order to avoid misdiagnosis, wrong treatment decisions and ulceration. Additionally, it appears that topical tacrolimus treatment is an effective therapeutic option in patients with recent, non-ulcerated NL lesions.

  13. Use of proteomics for the early diagnosis fo breast cancer

    NARCIS (Netherlands)

    van Winden, A.W.J.

    2010-01-01

    Breast cancer mortality rates in The Netherlands are among the highest in Europe. To improve breast cancer survival, early detection is of vital importance. The introduction of the national breast cancer screening program has led to an improvement in stage distribution at diagnosis of breast cancer.

  14. Early diagnosis in primary oral cancer: is it possible?

    NARCIS (Netherlands)

    van der Waal, I.; de Bree, R.; Brakenhoff, R.; Coebergh, J.W.

    2011-01-01

    In this treatise oral carcinogenesis is briefly discussed, particularly with regard to the number of cell divisions that is required before cancer reaches a measurable size. At that stage, metastatic spread may have already taken place. Therefore, the term "early diagnosis" is somewhat misleading. T

  15. Early diagnosis in primary oral cancer: is it possible?

    NARCIS (Netherlands)

    van der Waal, I.; de Bree, R.; Brakenhoff, R.; Coebergh, J.W.

    2011-01-01

    In this treatise oral carcinogenesis is briefly discussed, particularly with regard to the number of cell divisions that is required before cancer reaches a measurable size. At that stage, metastatic spread may have already taken place. Therefore, the term "early diagnosis" is somewhat misleading.

  16. Early diagnosis in primary oral cancer: is it possible?

    NARCIS (Netherlands)

    van der Waal, I.; de Bree, R.; Brakenhoff, R.; Coebergh, J.W.

    2011-01-01

    In this treatise oral carcinogenesis is briefly discussed, particularly with regard to the number of cell divisions that is required before cancer reaches a measurable size. At that stage, metastatic spread may have already taken place. Therefore, the term "early diagnosis" is somewhat misleading. T

  17. Noninvasive diagnosis of pediatric nonalcoholic fatty liver disease

    Directory of Open Access Journals (Sweden)

    Hye Ran Yang

    2013-02-01

    Full Text Available Because nonalcoholic steatohepatitis can progress towards cirrhosis even in children, early detection of hepatic fibrosis and accurate diagnosis of nonalcoholic fatty liver disease (NAFLD are important. Although liver biopsy is regarded as the gold standard of diagnosis, its clinical application is somewhat limited in children due to its invasiveness. Noninvasive diagnostic methods, including imaging studies, biomarkers of inflammation, oxidative stress, hepatic apoptosis, hepatic fibrosis, and noninvasive hepatic fibrosis scores have recently been developed for diagnosing the spectrum of NAFLD, particularly the severity of hepatic fibrosis. Although data and validation are still lacking for these noninvasive modalities in the pediatric population, these methods may be applicable for pediatric NAFLD. Therefore, noninvasive imaging studies, biomarkers, and hepatic fibrosis scoring systems may be useful in the detection of hepatic steatosis and the prediction of hepatic fibrosis, even in children with NAFLD.

  18. [The method for early diagnosis of the gastric cancer based metabolomics research].

    Science.gov (United States)

    Furina, R R; Ryzhkov, V L; Mitrakova, N N; Koptina, A V; Safiullin, I K; Lychagin, K A; Eroshkin, P R

    2014-01-01

    This paper deals with the questions of the usage of metabolomics research results in the diagnosis of gastric cancer. The central idea metabolomics is to identify the specific biomarkers in a biological sample used in a diagnostics this disease. The volatile organic compounds--metabolites isolated from the urine samples from patients are considered as biomarkers. The paper also describes main methods of separation and identification of volatile organic compounds (gas chromatography, mass spectrometry) applied in metabolomics. The paper presents some results of laboratory research aimed at the detection of biomarkers of gastric cancer. The presented material will be of some help in solving the problems of early diagnosis of this disease.

  19. Proteomics for the early diagnosis and treatment of hepatocellular carcinoma

    Directory of Open Access Journals (Sweden)

    Autor OJS

    2007-02-01

    Full Text Available

    The incidence of primary cancer has been increasing globally and now-a-days it constitutes the 5th most frequent cancer of humans representing around 5% of all cancers worldwide. Chronic HBV infection assumes greater significance because of its reported association with cirrhosis, and more ominously hepatocellular carcinoma or HCC. Hepatitis B infection constitutes a major global problem with nearly 400 million infected individuals. It contributes to a significant degree of morbidity on account of the associated chronicity that develops in 5-10% of infected adults and more than 90% of infected neonates. Globally, around one million people suffering from HBVrelated chronic heptatitis and HCC die per year. Despite the availability of an effective prophylactic vaccine against hepatitis B for over 20 years, effective treatment of the chronic disease and associated HCC remains elusive. Therefore, identification of the cellular mediators and effectors of HCC is an important medical objective for developing new diagnostic tools and therapeutic strategies against it. Molecular biomarkers hold great promise for refining our ability to establish early diagnosis and prognosis for HCC, and to predict response to therapy. Proteomics is a rapidly expanding discipline that is expected to change the way in which disease can be diagnosed, treated and monitored in the near future. The proteomic analysis of serum and tumors should allow accurate prediction of what is happening at the protein level in a cancer cell or a body fluid proteome. It is the hope that, by deciphering the alterations in serum and liver proteome, biomarkers and patterns of biomarkers will be found that should be helpful in improving early detection, diagnosis and treatment monitoring of HCC. In the last few years, HCC has been extensively investigated using different proteomic approaches on HCC cell lines

  20. Integrated Knowledge Based Expert System for Disease Diagnosis System

    Science.gov (United States)

    Arbaiy, Nureize; Sulaiman, Shafiza Eliza; Hassan, Norlida; Afizah Afip, Zehan

    2017-08-01

    The role and importance of healthcare systems to improve quality of life and social welfare in a society have been well recognized. Attention should be given to raise awareness and implementing appropriate measures to improve health care. Therefore, a computer based system is developed to serve as an alternative for people to self-diagnose their health status based on given symptoms. This strategy should be emphasized so that people can utilize the information correctly as a reference to enjoy healthier life. Hence, a Web-based Community Center for Healthcare Diagnosis system is developed based on expert system technique. Expert system reasoning technique is employed in the system to enable information about treatment and prevention of the diseases based on given symptoms. At present, three diseases are included which are arthritis, thalassemia and pneumococcal. Sets of rule and fact are managed in the knowledge based system. Web based technology is used as a platform to disseminate the information to users in order for them to optimize the information appropriately. This system will benefit people who wish to increase health awareness and seek expert knowledge on the diseases by performing self-diagnosis for early disease detection.

  1. Molecular Biomarkers for Diagnosis & Therapies of Alzheimer’s Disease

    Directory of Open Access Journals (Sweden)

    Pravin D Potdar

    2016-11-01

    Full Text Available Alzheimer’s disease (AD has been discovered before the century but scientists still have not found the way to cure the disease. The basic requirement for successful cure requires the early diagnosis of the disease. Presence of Aβ42, total tau protein and phosphorylated tau have been used in the earlier days but these diagnostic markers fail the detection in the initial stages. Hence the need of the hour is to identify the various biomarkers which can be detected in the earlier stages of AD. Impaired cellular signaling is common in all the diseases and identification of particular signaling pathway helps in the identification of biomarker. Important signaling pathways such as Akt, FAS/NO, MAPK, Ca2+ are found to be altered in the AD brain. Protein molecules upstream or downstream to these signaling molecules can be potential molecular markers in the diagnosis of AD. This review comprises molecular markers which are crucial in the AD and play a significant role by altering the signaling pathways. These biomarkers will not only help in the understanding of pathobiology of AD but also provide an insight for the researchers working in the direction of AD biomarker discovery and drug discovery.

  2. The Importance of Early Diagnosis and Treatment in Congenital Scoliosis

    Directory of Open Access Journals (Sweden)

    Safak Ekinci

    2011-08-01

    Full Text Available SUMMARY AIM: this study evaluates how early diagnosis of congenital scoliosis affects results and complication rates of of surgical treatment. METHOD: We have evaluated the efficiency and effectivity of modern posterior spinal instrumentation methods in congenital scoliosis cases who were diagnosed and treated in Gulhane Military Medical Academy Orthopaedics and Traumatology Department. We have evaluated 53 patients (13 male,29 female who were operated for congenital scoliosis between 1995 and 2009. Patients were divided into two groups according to the time of diagnosis to evaluate fusion levels, numbers of surgery, surgery methods, reduction rate, intraspinous and other system abnormalities and complications. RESULTS: 9 of 24 patients with diagnosis age before 5 and 11 of 29 patients with diagnosis age after 5 treated with single operation. Correction of main curve was %35.4 and compensatory curve was %13. Main curve correction of patients under 5 age was %36,3 and main curve correction of older group was %34,8 (p>0.05. Average number of fused levels in first group was 2,3±2,1 and in the older group 7,5±3,1. CONCLUSION: In patients before 5 age less invasive surgeries were needed to accomplish succesful treatment and early diagnosis of congenital scoliosis is the most important part of the treatment. KEY WORDS: Congenital ,Scoliosis, Posterior, Instrumentation [TAF Prev Med Bull 2011; 10(4.000: 441-446

  3. Diagnosis and classification of Graves' disease.

    Science.gov (United States)

    Menconi, Francesca; Marcocci, Claudio; Marinò, Michele

    2014-01-01

    Graves' disease (GD) is an autoimmune disorder involving the thyroid gland, typically characterized by the presence of circulating autoantibodies that bind to and stimulate the thyroid hormone receptor (TSHR), resulting in hyperthyroidism and goiter. Organs other than the thyroid can also be affected, leading to the extrathyroidal manifestations of GD, namely Graves' ophthalmopathy, which is observed in ~50% of patients, and Graves' dermopathy and acropachy, which are quite rare. Presumably, the extrathyroidal manifestations of GD are due to autoimmunity against antigens common to the thyroid and other affected organs. Although its exact etiology remains to be completely understood, GD is believed to result from a complex interaction between genetic susceptibility and environmental factors. Clinically, GD is characterized by the manifestations of thyrotoxicosis as well as by its extrathyroidal features when present, the latter making the diagnosis almost unmistakable. In the absence of ophthalmopathy, the diagnosis is generally based on the association of hyperthyroidism and usually diffuse goiter confirmed with serum anti-TSHR autoantibodies (TRAbs). Hyperthyroidism is generally treated with anti-thyroid drugs, but a common long term treatment strategy in patients relapsing after a course of anti-thyroid drugs (60-70%), implies the use of radioactive iodine or surgery.

  4. Histopathology for the diagnosis of infectious diseases

    Directory of Open Access Journals (Sweden)

    Gupta E

    2009-01-01

    Full Text Available Histopathological examination of tissue biopsies for the identification of infectious organisms is a very important diagnostic tool. Conventional culture confirmation of tissue biopsies often fail to identify any pathogen as, first of all, invariably most of the tissue samples that are collected and sent for culture isolation are inappropriately collected in formalin, which prevents pathogen growth in culture media. Inadequate processing like grinding, etc. further hinders isolation. Presence of inhibitors like dead tissue debris, fibers, etc. also delays isolation. Microbiologists often lack expertise in identifying infectious pathogens directly from tissue biopsies by microscopic visualization. This review therefore acquaints microbiologists with the various methods available for detecting infectious agents by using histological stains. On histopathological examination of the tissue biopsy once, it is determined that a disease is likely to be due to an infection and has characterized the inflammatory response and hence associated microorganisms should be thoroughly looked for. Although some microorganisms or their cytopathic effects may be clearly visible on routine haematoxylin- and eosin-stained sections, additional histochemical stains are often needed for their complete characterization. Highly specific molecular techniques, such as immunohistochemistry, in situ hybridization and nucleic acid amplification, may be needed in certain instances to establish the diagnosis of infection. Through appropriate morphologic diagnoses and interlaboratory communication and collaboration, direct microscopic visualization of tissue samples can thus be very helpful in reaching a correct and rapid diagnosis.

  5. Celiac disease: Prevalence, diagnosis, pathogenesis and treatment

    Institute of Scientific and Technical Information of China (English)

    Naiyana Gujral; Hugh J Freeman; Alan BR Thomson

    2012-01-01

    Celiac disease (CD) is one of the most common diseases,resulting from both environmental (gluten) and genetic factors [human leukocyte antigen (HLA) and nonHLA genes].The prevalence of CD has been estimated to approximate 0.5%-1% in different parts of the world.However,the population with diabetes,autoimmune disorder or relatives of CD individuals have even higher risk for the development of CD,at least in part,because of shared HLA typing.Gliadin gains access to the basal surface of the epithelium,and interact directly with the immune system,via both bans-and para-cellular routes.From a diagnostic perspective,symptoms may be viewed as either "typical" or "atypical'; In both positive serological screening results suggestive of CD,should lead to small bowel biopsy followed by a favourable clinical and serological response to the gluten-free diet (GFD) to confirm the diagnosis.Positive anti-tissue transglutaminase antibody or antiendomysial antibody during the clinical course helps to confirm the diagnosis of CD because of their over 99% specificities when small bowel villous atrophy is present on biopsy.Currently,the only treatment available for CD individuals is a strict life-long GFD.A greater understanding of the pathogenesis of CD allows alternative future CD treatments to hydrolyse toxic gliadin peptide,prevent toxic gliadin peptide absorption,blockage of selective deamidation of specific glutamine residues by tissue,restore immune tolerance towards gluten,modulation of immune response to dietary gliadin,and restoration of intestinal architecture.

  6. The Importance of an Early Diagnosis in Systemic Lupus Erythematosus.

    Science.gov (United States)

    Sebastiani, Gian D; Prevete, Immacolata; Iuliano, Annamaria; Minisola, Giovanni

    2016-01-01

    Systemic lupus erythematosus (SLE) is an autoimmune disease with a high degree of variability at onset, making it difficult to reach a correct and prompt diagnosis. To present the difficulties faced by the clinician in making a SLE diagnosis, based on the characteristics at study entry of an Italian cohort of SLE patients with recent onset as compared to two similar cohorts. Beginning on 1 January 2012 all patients with a diagnosis of SLE (1997 ACR criteria) and disease duration of less than 12 months were consecutively enrolled in a multicenter prospective study. Information on clinical and serological characteristics was collected at study entry and every 6 months thereafter. Our cohort consisted of 122 patients, of whom 103 were females. Among the manifestations included in the 1997 American College of Rheumatology (ACR) criteria, cutaneous, articular and hematologic symptoms were the most prevalent symptoms at study entry. Data from the literature confirm that the diagnosis of SLE is challenging, and that SLE is a severe disease even at onset when a prompt diagnosis is necessary for initiating the appropriate therapy.

  7. Recognition of Immune Response for the Early Diagnosis and Treatment of Osteoarthritis

    Directory of Open Access Journals (Sweden)

    Adrese M. Kandahari

    2015-01-01

    Full Text Available Osteoarthritis is a common and debilitating joint disease that affects up to 30 million Americans, leading to significant disability, reduction in quality of life, and costing the United States tens of billions of dollars annually. Classically, osteoarthritis has been characterized as a degenerative, wear-and-tear disease, but recent research has identified it as an immunopathological disease on a spectrum between healthy condition and rheumatoid arthritis. A systematic literature review demonstrates that the disease pathogenesis is driven by an early innate immune response which progressively catalyzes degenerative changes that ultimately lead to an altered joint microenvironment. It is feasible to detect this infiltration of cells in the early, and presumably asymptomatic, phase of the disease through noninvasive imaging techniques. This screening can serve to aid clinicians in potentially identifying high-risk patients, hopefully leading to early effective management, vast improvements in quality of life, and significant reductions in disability, morbidity, and cost related to osteoarthritis. Although the diagnosis and treatment of osteoarthritis routinely utilize both invasive and non-invasive strategies, imaging techniques specific to inflammatory cells are not commonly employed for these purposes. This review discusses this paradigm and aims to shift the focus of future osteoarthritis-related research towards early diagnosis of the disease process.

  8. 偏振光皮肤镜在白癜风早期诊断及与其他色素减退斑鉴别中的应用%Application of polarized light dermoescopy in the early diagnosis of vitiligo and its differential diagnosis from other depigmented diseases

    Institute of Scientific and Technical Information of China (English)

    孟如松; 赵广; 蔡瑞康; 孟晓; 姜志国

    2009-01-01

    Objective To investigate the early diagnosis of vitiligo and its differential diagnosis from other depigmentated diseases using polarized light dermoscopy(PD)imaging analysis.Methods Patients with localized depigmented macules were enrolled into this study.PD was used to observe the micromorphology,feature and color of skin lesions.Histopathology was performed to confirm the diagnosis of all cases except for those of pityriasis versicolor which were confirmed by clinical and laboratory examination.Results Of the 176 patients.97 were diagnosed as vitiligo.Residual perifollicular pigmentation Was observed in 91.94%(57/62)of patients with progressing vitiligo and 62.86%(22/35)of those with stable vitiligo,with significant difference between the two groups of patients(P<0.05).However.residual perifollicular pigmentation was absent in the 79 non-vitiligo depigrnented cases.The presence of telangiectasia,early reservoirs of pigmentation and perilesional hyperpigmentation were related to the stage of vitiligo and treatment history of patients.Conclusions PD,which efficiently eliminates the interference of reflected light on skin lesions of vililigo,is an imaging technique that allows for the visualization of minor structures and features of the skin lesions that are indiscernible to naked eyes.In a nutshell,the application of PD has offered references to the early diagnosis of vitiligo and its differential diagnosis from other depigmentation diseases.%目的 探讨偏振光皮肤镜图像分析技术在白癜风早期诊断中的应用及与其他色素减退斑的鉴别.方法 收集局限性色素减退斑患者,采用偏振光皮肤镜观察皮损微观形态、特征和颜色;所选病例除花斑糠疹经临床与实验室检查确诊外,其余病例均经病理活检确诊.结果 176例患者中,白癜风97例,进展期毛周色素残留发生率达91.94%,显著高于稳定期(62.86%),两者之间差异有统计学意义(P<0.05);毛细血管扩张、早期色素岛

  9. A magnetic-field enriched surface-enhanced resonance Raman spectroscopy strategy towards the early diagnosis of malaria

    Science.gov (United States)

    Yuen, Clement; Liu, Quan

    2012-03-01

    Early malaria diagnosis is important because malaria disease can develop into fatal illness within hours upon the appearance of the first symptom. The low concentration of the diagnosis biomarker, hemozoin, at the early stage of malaria disease makes early diagnosis difficult. In this paper, we present a magnetic field-enriched surface-enhanced resonance Raman spectroscopy (SERRS) strategy for the sensitive detection of β - hematin crystals, which is equivalent to hemozoin in the characteristics of Raman spectrum, by using magnetic nanoparticles. We observe several orders of magnitude enhancement in the SERRS signal of enriched β - hematin in comparison to the Raman signal of β - hematin in the cases of SERRS alone or magnetic enrichment alone, showing the great potential of this method towards early malaria diagnosis.

  10. Advances in MRI biomarkers for the diagnosis of Alzheimer's disease.

    Science.gov (United States)

    Kehoe, Elizabeth G; McNulty, Jonathan P; Mullins, Paul G; Bokde, Arun L W

    2014-01-01

    With the prevalence of Alzheimer's disease (AD) predicted to increase substantially over the coming decades, the development of effective biomarkers for the early detection of the disease is paramount. In this short review, the main neuroimaging techniques which have shown potential as biomarkers for AD are introduced, with a focus on MRI. Structural MRI measures of the hippocampus and medial temporal lobe are still the most clinically validated biomarkers for AD, but newer techniques such as functional MRI and diffusion tensor imaging offer great scope in tracking changes in the brain, particularly in functional and structural connectivity, which may precede gray matter atrophy. These new advances in neuroimaging methods require further development and crucially, standardization; however, before they are used as biomarkers to aid in the diagnosis of AD.

  11. A validated gene regulatory network and GWAS identifies early regulators of T cell-associated diseases

    OpenAIRE

    Gustafsson, Mika; Gawel, Danuta; Alfredsson, Lars; Baranzini, Sergio; Bjorkander, Janne; Blomgran, Robert; Hellberg, Sandra; Eklund, Daniel; Ernerudh, Jan; KOCKUM, Ingrid; Konstantinell, Aelita; Lahesmaa, Riita; Lentini, Antonio; Liljenström, H. Robert I.; Mattson, Lina

    2015-01-01

    Early regulators of disease may increase understanding of disease mechanisms and serve as markers for presymptomatic diagnosis and treatment. However, early regulators are difficult to identify because patients generally present after they are symptomatic. We hypothesized that early regulators of T cell-associated diseases could be found by identifying upstream transcription factors (TFs) in T cell differentiation and by prioritizing hub TFs that were enriched for disease-associated polymorph...

  12. Diagnosis and treatment of Graves disease.

    Science.gov (United States)

    Streetman, Darcie D; Khanderia, Ujjaini

    2003-01-01

    To review the etiology, diagnosis, and clinical presentation of Graves disease and provide an overview of the standard and adjunctive treatments. Specifically, antithyroid drugs, beta-blockers, inorganic iodide, lithium, and radioactive iodine are discussed, focusing on current controversies. Primary articles were identified through a MEDLINE search (1966-July 2000). Key word searches included beta-blockers, Graves disease, inorganic iodide, lithium, methimazole, and propylthiouracil. Additional articles from these sources and endocrinology textbooks were also identified. We agreed to include articles that would highlight the most relevant points, as well as current areas of controversy. Graves disease is the most common cause of hyperthyroidism. The 3 main treatment options for patients with Graves hyperthyroidism include antithyroid drugs, radioactive iodine, and surgery. Although the antithyroid drugs propylthiouracil (PTU) and methimazole (MMI) have similar efficacy, there are situations when 1 agent is preferred. MMI has a longer half-life than PTU, allowing once-daily dosing that can improve patient adherence to treatment. PTU has historically been the drug of choice for treating pregnant and breast-feeding women because of its limited transfer into the placenta and breast milk. Adjuvant therapies for Graves disease include beta-blockers, inorganic iodide, and lithium. beta-Blockers are used to decrease the symptoms of hyperthyroidism. Inorganic iodide is primarily used to prepare patients for thyroid surgery because of its ability to decrease the vascularity of the thyroid gland. Lithium, which acts in a manner similar to iodine, is not routinely used due to its transient effect and the risk of potentially serious adverse effects. In the US, radioiodine therapy has become the preferred treatment for adults with Graves disease. It is easy to administer, safe, effective, and more affordable than long-term treatment with antithyroid drugs. Hypothyroidism is an

  13. Early Diagnosis of Keratoconus with Orbscan- Ⅱ Anterior System

    Institute of Scientific and Technical Information of China (English)

    李新宇; 刘磊; 邱良秀

    2002-01-01

    Summary: Orbscan- Ⅱ anterior system was used for early diagnosis of keratoconus. 48 Eyes of 24patients with suspicious keratoconus were examined by Orbscan-Ⅱ anterior system from Dec.1999 to Dec. 2000 and followed up. The values of Diff and anterior chamber depth (ACD) wererecorded. Results indicated that values of Diff and ACD were increased in 4 eyes of 2 patients withkeratoconus trend during follow-up. Taking advantage of Orbscan- Ⅱ anterior system to observethe values of Diff and ACD can early diagnose the sub-clinical keratoconus. The values of Diff andACD can sensitively report the progression of keratoconus.

  14. Relational-Regularized Discriminative Sparse Learning for Alzheimer's Disease Diagnosis.

    Science.gov (United States)

    Lei, Baiying; Yang, Peng; Wang, Tianfu; Chen, Siping; Ni, Dong

    2017-01-16

    Accurate identification and understanding informative feature is important for early Alzheimer's disease (AD) prognosis and diagnosis. In this paper, we propose a novel discriminative sparse learning method with relational regularization to jointly predict the clinical score and classify AD disease stages using multimodal features. Specifically, we apply a discriminative learning technique to expand the class-specific difference and include geometric information for effective feature selection. In addition, two kind of relational information are incorporated to explore the intrinsic relationships among features and training subjects in terms of similarity learning. We map the original feature into the target space to identify the informative and predictive features by sparse learning technique. A unique loss function is designed to include both discriminative learning and relational regularization methods. Experimental results based on a total of 805 subjects [including 226 AD patients, 393 mild cognitive impairment (MCI) subjects, and 186 normal controls (NCs)] from AD neuroimaging initiative database show that the proposed method can obtain a classification accuracy of 94.68% for AD versus NC, 80.32% for MCI versus NC, and 74.58% for progressive MCI versus stable MCI, respectively. In addition, we achieve remarkable performance for the clinical scores prediction and classification label identification, which has efficacy for AD disease diagnosis and prognosis. The algorithm comparison demonstrates the effectiveness of the introduced learning techniques and superiority over the state-of-the-arts methods.

  15. Volatile signature for the early diagnosis of lung cancer.

    Science.gov (United States)

    Gasparri, Roberto; Santonico, Marco; Valentini, Claudia; Sedda, Giulia; Borri, Alessandro; Petrella, Francesco; Maisonneuve, Patrick; Pennazza, Giorgio; D'Amico, Arnaldo; Di Natale, Corrado; Paolesse, Roberto; Spaggiari, Lorenzo

    2016-02-09

    Exhaled breath contains hundreds of volatile organic compounds (VOCs). Several independent researchers point out that the breath of lung cancer patients shows a characteristic VOC-profile which can be considered as lung cancer signature and, thus, used for diagnosis. In this regard, the analysis of exhaled breath with gas sensor arrays is a potential non-invasive, relatively low-cost and easy technique for the early detection of lung cancer. This clinical study evaluated the gas sensor array response for the identification of the exhaled breath of lung cancer patients. This study involved 146 individuals: 70 with lung cancer confirmed by computerized tomography (CT) or positron emission tomography-(PET) imaging techniques and histology (biopsy) or with clinical suspect of lung cancer and 76 healthy controls. Their exhaled breath was measured with a gas sensor array composed of a matrix of eight quartz microbalances (QMBs), each functionalized with a different metalloporphyrin. The instrument produces, for each analyzed sample, a vector of signals encoding the breath (breathprint). Breathprints were analyzed with multivariate analysis in order to correlate the sensor signals to the disease. Breathprints of the lung cancer patients were differentiated from those of the healthy controls with a sensitivity of 81% and specificity of 91%. Similar values were obtained in patients with and without metabolic comorbidities, such as diabetes, obesity and dyslipidemia (sensitivity 85%, specificity 88% and sensitivity 76%, specificity 94%, respectively). The device showed a large sensitivity to lung cancer at stage I with respect to stage II/III/IV (92% and 58% respectively). The sensitivity for stage I did not change for patients with or without metabolic comorbidities (90%, 94%, respectively). Results show that this electronic nose can discriminate the exhaled breath of the lung cancer patients from those of the healthy controls. Moreover, the largest sensitivity is observed

  16. Improved early diagnosis of cystadenocarcinoma of the pancreas

    Institute of Scientific and Technical Information of China (English)

    Hong Wu; Nan-Sheng Cheng; Yan-Ge Zhang; Hong-Zhi Luo; Lu-Nan Yan; Jin Li

    2007-01-01

    BACKGROUND:Cystadenocarcinoma of the pancreas is insensitive to radiotherapy and chemotherapy, and surgery is at present the deifnitive treatment. Early and accurate diagnosis of cystadenocarcinoma is crucial for increasing the ifve-year survival rate and the resectable rate. There is no deifnitive and effective method of early diagnosis of cystadenocarcinoma of the pancreas in China and other countries. METHODS: We compared endoscopic ultrasonography-guided (EUS-guided) ifne needle aspiration biopsy combined with cyst lfuid carcinoembryonic antigen (CEA), CA19-9 examination with computed tomography (CT), B-ultrasonography (B-US) and serum CEA and CA19-9, to explore methods of early diagnosis of cystadenocarcinoma of the pancreas. Retrospective analysis was made on the clinical data of 126 cases of benign pancreatic lesion (90 cases) and cystadenocarcinoma (36). RESULTS: The sensitivity of B-US and CT for cystadeno-carcinoma was 52.8%and 77.8%, while the speciifcity was 78.9%and 86.7%, respectively. When measurement of CEA and CA19-9 of cyst lfuid was combined with EUS-guided ifne needle aspiration biopsy, the sensitivity was 94.4%, higher than that of B-US and CT (P CONCLUSIONS: EUS-guided ifne needle aspiration biopsy combined with examination of cyst lfuid CEA, CA19-9 is a credible means for early diagnosis of cystadenocarcinoma of the pancreas. B-US, CT and serum CEA, CA19-9 measurements are in common use, their ifndings are also very important.

  17. Early diagnosis of craniosynostosis in infants at primary health care

    Directory of Open Access Journals (Sweden)

    Skoric Jasmina

    2014-12-01

    Full Text Available Craniosynostosis or premature fusion of one or more cranial sutures in infants disturbs normal brain growth. This condition causes abnormal skull configuration, increased intracranial pressure, headache, strabismus, blurred vision, blindness, psychomotor retardation. The diagnosis of craniosynostosis is very simple. Pediatricians should routinely assess neurological status and measure head circumference and anterior fontanelle. When necessary, ultrasound of CNS, X-ray and cranial CT scan can be done. When it comes to this condition, early diagnosis and surgical intervention are of utmost importance. In this paper, we have presented a case on craniosynostosis in a female infant, discovered in the third month of life during systematic review that included measurement of head circumference, palpation of anterior fontanelle and cranial sutures. The child was referred to a neurosurgeon who performed the CT scan of endocranium and confirmed the initial diagnosis of craniosynostosis. With head circumference of 40 cm and fused anterior fontanelle, the surgery was timely performed at the sixth month of life due to early diagnosis.

  18. EARLY DIAGNOSIS OF CRANIOSYNOSTOSIS IN INFANTS AT PRIMARY HEALTH CARE

    Directory of Open Access Journals (Sweden)

    Skoric Jasmina

    2014-12-01

    Full Text Available Craniosynostosis or premature fusion of one or more cranial sutures in infants disturbs normal brain growth. This condition causes abnormal skull configuration, increased intracranial pressure, headache, strabismus, blurred vision, blindness, psychomotor retardation. The diagnosis of craniosynostosis is very simple. Pediatricians should routinely assess neurological status and measure head circumference and anterior fontanelle. When necessary, ultrasound of CNS, X-ray and cranial CT scan can be done. When it comes to this condition, early diagnosis and surgical intervention are of utmost importance. In this paper, we have presented a case on craniosynostosis in a female infant, discovered in the third month of life during systematic review that included measurement of head circumference, palpation of anterior fontanelle and cranial sutures. The child was referred to a neurosurgeon who performed the CT scan of endocranium and confirmed the initial diagnosis of craniosynostosis. With head circumference of 40 cm and fused anterior fontanelle, the surgery was timely performed at the sixth month of life due to early diagnosis.

  19. Chinese consensus on early diagnosis of primary lung cancer (2014 version).

    Science.gov (United States)

    Hu, Jie; Qian, Gui-Sheng; Bai, Chun-Xue

    2015-09-01

    The incidence and mortality of lung cancer in China have rapidly increased. Lung cancer is the leading cause of cancer death in China, possibly because of the inadequate early diagnosis of lung cancer. Reaching a consensus on early diagnostic strategies for lung cancer in China is an unmet needed. Recently, much progress has been made in lung cancer diagnosis, such as screening in high-risk populations, the application of novel imaging technologies, and the use of minimally invasive techniques for diagnosis. However, systemic reviews of disease history, risk assessment, and patients' willingness to undergo invasive diagnostic procedures also need to be considered. A diagnostic strategy for lung cancer should be proposed and developed by a multidisciplinary group. A comprehensive evaluation of patient factors and clinical findings should be completed before treatment.

  20. Diagnosis of pancreatic disease in feline platynosomosis.

    Science.gov (United States)

    Köster, Liza S; Shell, Linda; Ketzis, Jennifer; Rajeev, Sreekumari; Illanes, Oscar

    2017-01-01

    Objectives Platynosomum species are cat-specific parasitic trematodes that parasitize the biliary ducts and gall bladder. Due to the common connection to the major duodenal papilla of the pancreas and common bile ducts in addition to the periductal proximity of the pancreas, it is possible that platynosomosis could cause pancreatitis. The objective of this study was to determine whether platynosomosis, a commonly diagnosed parasitic disease in cats on St Kitts, has any association with pancreatic disease. Methods To investigate this possibility, the pancreas of free-roaming cats with naturally acquired platynosomosis were evaluated via ultrasound, serum concentrations of feline pancreatic lipase (fPL), cobalamin, folate and feline trypsin-like immunoreactivity (fTLI) and histopathology. Twenty free-roaming, young adult, feral cats, positive for feline immunodeficiency virus, and diagnosed with Platynosomum species infection via fecal analysis were recruited. The liver, biliary system and pancreas were evaluated via ultrasonography during a short duration anesthesia. Serum concentrations of fPL, fTLI, folate and cobalamin were measured. Sections of the right limb, left limb and body of the pancreas were evaluated histopathologically using hematoxylin and eosin (H&E) stain. Results None of the cats had sufficient criteria to fulfill the ultrasonographic diagnosis of pancreatitis. One cat had an elevated fPL concentration in the range consistent with pancreatitis. Four cats had cobalamin deficiencies and 11 had abnormal folate concentration. The fTLI concentration was equivocal for the diagnosis of exocrine pancreatic insufficiency in one cat. With a single exception, histopathology changes, when present (n = 12), were mild, non-specific and predominantly characterized by lymphocytic infiltrates and fibrosis. The exception was a cat that presented a chronic interstitial and eosinophilic pancreatitis of slightly increased severity, likely the result of platynosomosis

  1. Submandibular gland biopsy for the diagnosis of Parkinson disease.

    Science.gov (United States)

    Beach, Thomas G; Adler, Charles H; Dugger, Brittany N; Serrano, Geidy; Hidalgo, Jose; Henry-Watson, Jonette; Shill, Holly A; Sue, Lucia I; Sabbagh, Marwan N; Akiyama, Haruhiko

    2013-02-01

    The clinical diagnosis of Parkinson disease (PD) is incorrect in 30% or more of subjects particularly at the time of symptom onset. Because Lewy-type α-synucleinopathy is present in the submandibular glands of PD patients, we assessed the feasibility of submandibular gland biopsy for diagnosing PD. We performed immunohistochemical staining for Lewy-type α-synucleinopathy in sections of large segments (simulating open biopsy) and needle cores of submandibular glands from 128 autopsied and neuropathologically classified subjects, including 28 PD, 5 incidental Lewy body disease, 5 progressive supranuclear palsy (3 with concurrent PD), 3 corticobasal degeneration, 2 multiple system atrophy, 22 Alzheimer disease with Lewy bodies, 16 Alzheimer disease without Lewy bodies, and 50 normal elderly. Immunoreactive nerve fibers were present in large submandibular gland sections of all 28 PD subjects (including 3 that also had progressive supranuclear palsy); 3 Alzheimer disease with Lewy bodies subjects were also positive, but none of the other subjects were positive. Cores from frozen submandibular glands taken with 18-gauge needles (total length, 15-38 mm; between 10 and 118 sections per subject examined) were positive for Lewy-type α-synucleinopathy in 17 of 19 PD patients. These results suggest that biopsy of the submandibular gland may be a feasible means of improving PD clinical diagnostic accuracy. This would be particularly advantageous for subject selection in early-stage clinical trials for invasive therapies or for verifying other biomarker studies.

  2. Magnetic resonance imaging (MRI) in the diagnosis of neuromuscular diseases

    Energy Technology Data Exchange (ETDEWEB)

    Schalke, B.C.G.; Rohkamm, R. (Neurologische Universitaetsklinik, Wuerzburg (Germany, F.R.)); Kaiser, W.

    1990-12-01

    In the last few years imaging procedures became also important in the diagnosis of neuromuscular diseases. We examined more than 150 patients with different neuromuscular diseases with MRI. Conventional diagnostic procedures like EMG, muscle biopsy can not be replaced by imaging procedures. MRI gives the chance to get additional diagnostic informations. It is possible to determine exact distribution and intensity of pathological changes in the muscle. Inflammatory muscle diseases can be differrentiated by T1/T2 values from atrophic/dystrophic diseases. The resolving power is very high and allows the exact detection of affected areas even in a single muscle. This can help to reduce false negative muscle biopsies. This is very useful in children and young adults. MRI can be used for the early detection of genetic myopathies and neuropathies. MRI allows to examine all muscles, including the heart, bone artefacts are absent. Heart muscle involvement in neuromuscular diseases can directly be shown by this method without any risk for the patient. In addition P-spectroscopy can be done for better understanding of pathogenesis, especially if the exact distribution of pathological changes is known. (author).

  3. Early Lyme disease with spirochetemia - diagnosed by DNA sequencing

    Directory of Open Access Journals (Sweden)

    Jones William

    2010-11-01

    Full Text Available Abstract Background A sensitive and analytically specific nucleic acid amplification test (NAAT is valuable in confirming the diagnosis of early Lyme disease at the stage of spirochetemia. Findings Venous blood drawn from patients with clinical presentations of Lyme disease was tested for the standard 2-tier screen and Western Blot serology assay for Lyme disease, and also by a nested polymerase chain reaction (PCR for B. burgdorferi sensu lato 16S ribosomal DNA. The PCR amplicon was sequenced for B. burgdorferi genomic DNA validation. A total of 130 patients visiting emergency room (ER or Walk-in clinic (WALKIN, and 333 patients referred through the private physicians' offices were studied. While 5.4% of the ER/WALKIN patients showed DNA evidence of spirochetemia, none (0% of the patients referred from private physicians' offices were DNA-positive. In contrast, while 8.4% of the patients referred from private physicians' offices were positive for the 2-tier Lyme serology assay, only 1.5% of the ER/WALKIN patients were positive for this antibody test. The 2-tier serology assay missed 85.7% of the cases of early Lyme disease with spirochetemia. The latter diagnosis was confirmed by DNA sequencing. Conclusion Nested PCR followed by automated DNA sequencing is a valuable supplement to the standard 2-tier antibody assay in the diagnosis of early Lyme disease with spirochetemia. The best time to test for Lyme spirochetemia is when the patients living in the Lyme disease endemic areas develop unexplained symptoms or clinical manifestations that are consistent with Lyme disease early in the course of their illness.

  4. Contributions to early HIV diagnosis among patients linked to care vary by testing venue

    Directory of Open Access Journals (Sweden)

    Trott Alexander T

    2008-06-01

    Full Text Available Abstract Objective Early HIV diagnosis reduces transmission and improves health outcomes; screening in non-traditional settings is increasingly advocated. We compared test venues by the number of new diagnoses successfully linked to the regional HIV treatment center and disease stage at diagnosis. Methods We conducted a retrospective cohort study using structured chart review of newly diagnosed HIV patients successfully referred to the region's only HIV treatment center from 1998 to 2003. Demographics, testing indication, risk profile, and initial CD4 count were recorded. Results There were 277 newly diagnosed patients meeting study criteria. Mean age was 33 years, 77% were male, and 46% were African-American. Median CD4 at diagnosis was 324. Diagnoses were earlier via partner testing at the HIV treatment center (N = 8, median CD4 648, p = 0.008 and with universal screening by the blood bank, military, and insurance companies (N = 13, median CD4 483, p = 0.05 than at other venues. Targeted testing by health care and public health entities based on patient request, risk profile, or patient condition lead to later diagnosis. Conclusion Test venues varied by the number of new diagnoses made and the stage of illness at diagnosis. To improve the rate of early diagnosis, scarce resources should be allocated to maximize the number of new diagnoses at screening venues where diagnoses are more likely to be early or alter testing strategies at test venues where diagnoses are traditionally made late. Efforts to improve early diagnosis should be coordinated longitudinally on a regional basis according to this conceptual paradigm.

  5. [Mycosis fungoides or inflammatory dermatitis: differential diagnosis between early lymphoma and inflammation in skin biopsies].

    Science.gov (United States)

    Oschlies, I; Klapper, W

    2013-05-01

    Mycosis fungoides is a cutaneous T-cell lymphoma with protracted clinical course and progression in different stages with increasing aggressiveness. The clinical picture as well as the histopathology of mycosis fungoides within the early patch and plaque phase is difficult to delineate from some inflammatory skin diseases. Thus, the diagnosis of these early stages of the lymphoma is only possible when clinical, histopathological, and molecular features are integrated into the diagnosis, especially as none of the individual disease criteria is specific. Important clues towards the diagnosis of mycosis fungoides are cytologically abnormal epidermotropic CD4-positive T-cells causing only minor epidermal alterations, the formation of Pautrier-abscesses and basal alignment of the epidermotropic T-cells. The findings of an aberrant T-cell immunophenotype of the intraepidermal lymphoid component as well as the molecular proof of T-cell clonality are important further features. In the differential diagnosis between early stage mycosis fungoides and parapsoriasis, there remains nevertheless a diagnostic and maybe also a true biological grey zone.

  6. Genetic diagnosis of Huntington's disease: cases report

    Institute of Scientific and Technical Information of China (English)

    Liao Ting-ting; Wu Wei; Wan Qi; Cui Yu-gui; Liu Jia-yin

    2011-01-01

    Objective:To assess the efficiency of the PCR combined DNA sequencing to ascertain CAG repeat size of Huntington's disease(HD)gene as for gene diagnosis of HD.Method:Three patients with HD were diagnosed genetically with the technology of polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis by assessing the CAG repeat size of HD gene.DNA sequencing then was used as verification test for HD gene.Results:Nine members of three nuclear families were included in this study,three patients were HD proband.In those families,CAG repeats of all spouse of propositus were in normal range.CAG repeats of all propositus and their descendants with the normal allele were in normal range,while CAG copy number of the other mobigenous allele was obviously abnormal.Conclusion:PCR combined DNA sequencing can be used to effectively ascertain CAG repeat of HD gene.CAG-repeat expansion mutations were accounted for 99% of HD cases,so HD can be accurately diagnosed by this method.

  7. Gumboro Disease: Etiology, Epidemiology, Pathology, Diagnosis And Disease Control

    Directory of Open Access Journals (Sweden)

    Sutiastuti Wahyuwardani

    2011-09-01

    Full Text Available Infectious bursal disease (IBD or known as Gumboro, is a disease that attacks chicken older than 3 weeks, caused by famili Birnaviridae virus. Gumboro in Indonesia was firstly reported in 1983 and until now is commonly found. Very virulent IBD virus causes high morbidity and mortality that can even reach 100%. Clinical symptoms are exhibited as sluggish chicken, dropped wings and cloacal pasting. At gross examination, the bursa was found swollen, with yellowish fluid or hemorrhagic 3 days after infection. The bursa will get atrophy from 7 days post-infection. Meanwhile, the non virulent IBD virus causes subclinical symptoms. Chicken that survived, became stunted or dwarfed. On gross and histopathological findings, the bursa Fabricius has mild lesion and will recover at 14 days post-infection. Diagnosis of IBD can be determined based on pathological observation, supported by immunohistochemical examination and laboratory confirmation of disease by agar gel immunodiffusion, polymerase chain reaction techniques, antigen capture enzyme linked immunosorbent assay and isolation. Detection of antibodies can be made by serum neutralization technique or enzyme linked immunosorbent assay. Prevention can be done by routine vaccination in the field when the maternal antibodies have declined. The review describes the etiology, epidemiology, pathogenesis clinical symptoms, pathological discription and control of the disease to improve the knowledge of poultry farmer or people who are interested in poultry health.

  8. Differential diagnosis of neurodegenerative diseases using structural MRI data

    Science.gov (United States)

    Koikkalainen, Juha; Rhodius-Meester, Hanneke; Tolonen, Antti; Barkhof, Frederik; Tijms, Betty; Lemstra, Afina W.; Tong, Tong; Guerrero, Ricardo; Schuh, Andreas; Ledig, Christian; Rueckert, Daniel; Soininen, Hilkka; Remes, Anne M.; Waldemar, Gunhild; Hasselbalch, Steen; Mecocci, Patrizia; van der Flier, Wiesje; Lötjönen, Jyrki

    2016-01-01

    Different neurodegenerative diseases can cause memory disorders and other cognitive impairments. The early detection and the stratification of patients according to the underlying disease are essential for an efficient approach to this healthcare challenge. This emphasizes the importance of differential diagnostics. Most studies compare patients and controls, or Alzheimer's disease with one other type of dementia. Such a bilateral comparison does not resemble clinical practice, where a clinician is faced with a number of different possible types of dementia. Here we studied which features in structural magnetic resonance imaging (MRI) scans could best distinguish four types of dementia, Alzheimer's disease, frontotemporal dementia, vascular dementia, and dementia with Lewy bodies, and control subjects. We extracted an extensive set of features quantifying volumetric and morphometric characteristics from T1 images, and vascular characteristics from FLAIR images. Classification was performed using a multi-class classifier based on Disease State Index methodology. The classifier provided continuous probability indices for each disease to support clinical decision making. A dataset of 504 individuals was used for evaluation. The cross-validated classification accuracy was 70.6% and balanced accuracy was 69.1% for the five disease groups using only automatically determined MRI features. Vascular dementia patients could be detected with high sensitivity (96%) using features from FLAIR images. Controls (sensitivity 82%) and Alzheimer's disease patients (sensitivity 74%) could be accurately classified using T1-based features, whereas the most difficult group was the dementia with Lewy bodies (sensitivity 32%). These results were notable better than the classification accuracies obtained with visual MRI ratings (accuracy 44.6%, balanced accuracy 51.6%). Different quantification methods provided complementary information, and consequently, the best results were obtained by

  9. Differential diagnosis of neurodegenerative diseases using structural MRI data.

    Science.gov (United States)

    Koikkalainen, Juha; Rhodius-Meester, Hanneke; Tolonen, Antti; Barkhof, Frederik; Tijms, Betty; Lemstra, Afina W; Tong, Tong; Guerrero, Ricardo; Schuh, Andreas; Ledig, Christian; Rueckert, Daniel; Soininen, Hilkka; Remes, Anne M; Waldemar, Gunhild; Hasselbalch, Steen; Mecocci, Patrizia; van der Flier, Wiesje; Lötjönen, Jyrki

    2016-01-01

    Different neurodegenerative diseases can cause memory disorders and other cognitive impairments. The early detection and the stratification of patients according to the underlying disease are essential for an efficient approach to this healthcare challenge. This emphasizes the importance of differential diagnostics. Most studies compare patients and controls, or Alzheimer's disease with one other type of dementia. Such a bilateral comparison does not resemble clinical practice, where a clinician is faced with a number of different possible types of dementia. Here we studied which features in structural magnetic resonance imaging (MRI) scans could best distinguish four types of dementia, Alzheimer's disease, frontotemporal dementia, vascular dementia, and dementia with Lewy bodies, and control subjects. We extracted an extensive set of features quantifying volumetric and morphometric characteristics from T1 images, and vascular characteristics from FLAIR images. Classification was performed using a multi-class classifier based on Disease State Index methodology. The classifier provided continuous probability indices for each disease to support clinical decision making. A dataset of 504 individuals was used for evaluation. The cross-validated classification accuracy was 70.6% and balanced accuracy was 69.1% for the five disease groups using only automatically determined MRI features. Vascular dementia patients could be detected with high sensitivity (96%) using features from FLAIR images. Controls (sensitivity 82%) and Alzheimer's disease patients (sensitivity 74%) could be accurately classified using T1-based features, whereas the most difficult group was the dementia with Lewy bodies (sensitivity 32%). These results were notable better than the classification accuracies obtained with visual MRI ratings (accuracy 44.6%, balanced accuracy 51.6%). Different quantification methods provided complementary information, and consequently, the best results were obtained by

  10. Crohn disease: pathophysiology, diagnosis, and treatment.

    Science.gov (United States)

    Mazal, Jonathan

    2014-01-01

    Crohn disease (often seen in the literature as "Crohn's disease"), an autoimmune disease with debilitating gastrointestinal and extragastrointestinal manifestations, is on the rise in the United States and Europe. This article discusses the disease process, clinical presentation, diagnostic tools, and treatment options for Crohn disease. Statistics regarding disease prevalence and epidemiology also are reported.

  11. Diagnosis of Parkinson's disease based on disease-specific autoantibody profiles in human sera.

    Directory of Open Access Journals (Sweden)

    Min Han

    Full Text Available Parkinson's disease (PD, hallmarked by a variety of motor disorders and neurological decline, is the second most common neurodegenerative disease worldwide. Currently, no diagnostic test exists to identify sufferers, and physicians must rely on a combination of subjective physical and neurological assessments to make a diagnosis. The discovery of definitive blood-borne biomarkers would be a major step towards early and reliable diagnosis. Despite attention devoted to this search, such biomarkers have remained elusive. In the present study, we used human protein microarrays to reveal serum autoantibodies that are differentially expressed among PD and control subjects. The diagnostic significance of each of these autoantibodies was evaluated, resulting in the selection of 10 autoantibody biomarkers that can effectively differentiate PD sera from control sera with a sensitivity of 93.1% and specificity of 100%. PD sera were also distinguishable from sera obtained from Alzheimer's disease, breast cancer, and multiple sclerosis patients with accuracies of 86.0%, 96.6%, and 100%, respectively. Results demonstrate that serum autoantibodies can be used as highly specific and accurate biomarkers for PD diagnosis throughout the course of the disease.

  12. Improving diagnosis of appendicitis. Early autologous leukocyte scanning.

    Science.gov (United States)

    DeLaney, A R; Raviola, C A; Weber, P N; McDonald, P T; Navarro, D A; Jasko, I

    1989-10-01

    A prospective nonrandomized study investigating the accuracy and utility of autologous leukocyte scanning in the diagnosis of apendicitis was performed. One hundred patients in whom the clinical diagnosis of appendicitis was uncertain underwent indium 111 oxyquinoline labelling of autologous leukocytes and underwent scanning 2 hours following reinjection. Of 32 patients with proved appendicitis, three scans revealed normal results (false-negative rate, 0.09). Of 68 patients without appendicitis, three scans had positive results (false-positive rate, 0.03; sensitivity, 0.91; specificity, 0.97; predictive value of positive scan, 0.94; predictive value of negative scan, 0.96; and overall accuracy, 0.95). Scan results altered clinical decisions in 19 patients. In 13 cases, the scan produced images consistent with diagnoses other than appendicitis, expediting appropriate management. Early-imaging111 In oxyquinoline autologous leukocyte scanning is a practical and highly accurate adjunct for diagnosing appendicitis.

  13. [Hypertension: prevalence, early diagnosis, control and trends in Mexican adults].

    Science.gov (United States)

    Campos-Nonato, Ismael; Hernández-Barrera, Lucía; Rojas-Martínez, Rosalba; Pedroza, Adolfo; Medina-García, Catalina; Barquera-Cervera, Simón

    2013-01-01

    The present study aims to describe the prevalence, distribution and trends of hypertension (HT) in Mexican adults ≥20 years, and to describe the prevalence of early diagnosis and treatment of HT. A total of 10 898 adults were considered. The measurement of blood pressure was performed following the procedures recommended by the American Heart Association. An adult was considered, hypertensive when he met the diagnostic criteria of JNC-7. The prevalence of HT was 31.5%, of which 47.3% were unaware of their condition. Pharmacological treatment was not associated with a higher percentage of subjects under control. Prevalences from 2000, 2006 and 2012 suggest that there is a stabilization. A health problem of this magnitude requires better diagnosis, care and training of the medical sector so that appropriate treatments are prescribed and HT control can be enhanced.

  14. EFNS guidelines for the diagnosis and management of Alzheimer's disease.

    Science.gov (United States)

    Hort, J; O'Brien, J T; Gainotti, G; Pirttila, T; Popescu, B O; Rektorova, I; Sorbi, S; Scheltens, P

    2010-10-01

    In 2008 a task force was set up to develop a revision of the European Federation of the Neurological Societies (EFNS) guideline for the diagnosis and management of Alzheimer's disease (AD) and other disorders associated with dementia, published in early 2007. The aim of this revised international guideline was to present a peer-reviewed evidence-based statement for the guidance of practice for clinical neurologists, geriatricians, psychiatrists, and other specialist physicians responsible for the care of patients with AD. Mild cognitive impairment and non-Alzheimer dementias are not included in this guideline. The task force working group reviewed evidence from original research articles, meta-analysis, and systematic reviews, published before May 2009. The evidence was classified and consensus recommendations graded (A, B, or C) according to the EFNS guidance. Where there was a lack of evidence, but clear consensus, good practice points were provided. The recommendations for clinical diagnosis, blood tests, neuropsychology, neuroimaging, electroencephalography, cerebrospinal fluid (CSF) analysis, genetic testing, disclosure of diagnosis, treatment of AD, behavioural and psychological symptoms in dementia, legal issues, counselling and support for caregivers were all revised as compared with the previous EFNS guideline. A number of new recommendations and good practice points are made, namely in CSF, neuropsychology, neuroimaging and reviewing non-evidence based therapies. The assessment, interpretation, and treatment of symptoms, disability, needs, and caregiver stress during the course of AD require the contribution of many different professionals. These professionals should adhere to these guideline to improve the diagnosis and management of AD. © 2010 The Author(s). European Journal of Neurology © 2010 EFNS.

  15. APPLYING OF GAS ANALYSIS IN DIAGNOSIS OF BRONCHOPULMONARY DISEASES

    Directory of Open Access Journals (Sweden)

    Ye. B. Bukreyeva

    2014-01-01

    Full Text Available Bronchopulmonary system diseases are on the first place among the causes of people's death. Most of methods for lung diseases diagnosis are invasive or not suitable for children and patients with severe disease. One of the promising methods of clinical diagnosis and disease activity monitoring of bronchopulmonary system is analyzing of human breath. Directly exhaled breath or exhaled breath condensate are using for human breaths analyzing. Analysis of human breath can apply for diagnostic, long monitoring and evaluation of efficacy of the treatment bronchopulmonary diseases. Differential diagnostic between chronic obstructive lung disease (COPD and bronchial asthma is complicated because they have differences in pathogenesis. Analysis of human breath allows to explore features of COPD and bronchial asthma and to improve differential diagnostic of these diseases. Human breaths analyzing can apply for diagnostic dangerous diseases, such as tuberculosis, lung cancer. The analysis of breath air by spectroscopy methods is new noninvasive way for diagnosis of bronchopulmonary diseases.

  16. Spectroscopy techniques for human disease diagnosis

    Science.gov (United States)

    Navas-Moreno, Maria

    2011-12-01

    Modern medicine would benefit from the pursuit of new, more specific and easier to implement diagnosis tools. In recent years, Raman scattering, surface-enhanced Raman scattering and fluorescence spectroscopy have proven to be successful diagnostic techniques for a wide range of diseases including atherosclerosis, kidney stones, bone diseases, diabetes, and a wide collection of neoplasms. Optical spectroscopy has several advantages over more traditional diagnostic methods (i.e., histopathology, quantitative PCR, etc.) such as faster data analysis, nonspecific sample preparation, nonspecific labels/reagents/antibodies usage requirements, and immediate on-site implementation. In the present work, label-free in vitro fluorescence and surface enhanced Raman scattering (SERS) spectroscopy have been used to differentiate between blood cells of patients affected with myeloproliferative neoplasms (MPN) and those of healthy subjects. The SERS technique has also been applied to hemoglobin variants as well as to serum obtained from patients affected with chronic heart failure who positively or negatively responded to the seasonal influenza vaccine. We found that spectral ratios of the background fluorescence intensity that accompanies the SERS spectra of granulocytes serve as excellent markers for the presence of MPNs. In addition, we also found expression dysregulation of two hypoxia induced factor regulated genes, which correlates with our results obtained by SERS spectroscopy assay in MPN patients and supports the presence of the Warburg effect in MPNs. We hypothesize that SERS measures metabolic change in granulocytes through two possible mechanisms: (i) Changes in dielectric properties of the environment surrounding the silver-cell interface; and (ii) changes in flavin adenine dinucleotide concentrations, which in turn changes the relative contribution of the autofluorescence to the emission spectrum. These hypotheses are supported by SERS measurement of 2-deoxy

  17. [Systemic autoimmune rheumatic diseases in 2013: problems of laboratory diagnosis].

    Science.gov (United States)

    Nasonov, E L; Aleksandrova, E N; Novikov, A A

    2014-01-01

    Progress in the laboratory diagnosis of systemic autoimmune rheumatic diseases (SRAD) is caused by the ever increasing clinical introduction of new highly productive methods for immune analysis using computer-aided systems and multiplex proteomic technologies. The urgent problem in the laboratory diagnosis of SRAD is the standardization of current methods for the detection of autoantibodies (autoAb), including the preparation of international reference materials for the calibration and external quality assessment of immunological assay. New autoAb technologies have a higher analytical validity than the previously used classical techniques immunodiffusion, agglutination, and immunofluorescence; however, their diagnostic sensitivity and specificity for SRAD have been poorly studied. Particular emphasis is laid on the standardization of the methods for examining antinuclear antibodies (ANAb), the major serologic marker of SRAD. According to the EULAR/ACR guidelines, indirect immunofluorescence reaction (IIFR) using human HEp-2 cells as substrate is the gold standard and a primary screening ANAb method. New methods for solid-phase analysis (enzyme immunoassay, multiplex test systems, etc.) cannot substitute the primary screening of ANAb using IIFR-HEp-2 as they identify antibodies to the limited number of antigens, increasing the number of false- negative results. The computer-aided systems for interpreting cell fluorescence tests contribute to the standardization and enhancement of the efficiency of detection of ANAb and other autoAb by IIFR. The use of complex diagnostic indices based on the multiparametric analysis of laboratory biomarkers in the serum makes it possible to most fully and objectively assess complex molecular mechanisms for the pathogenesis of SRAD, thus radically improving the early diagnosis, the estimation of the activity and severity of disease, the prediction of the outcomes of a pathological process and the response to treatment.

  18. Neglected evidence in idiopathic pulmonary fibrosis and the importance of early diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Vincent Cottin

    2014-03-01

    Full Text Available In idiopathic pulmonary fibrosis (IPF, some facts or concepts based on substantial evidence, whilst implicit for learned subspecialists, have previously been neglected and/or not explicitly formulated or made accessible to a wider audience. IPF is strongly associated with cigarette smoking and is predominantly a disease of ageing. However, its cause(s remain elusive and, thus, it is one of the most challenging diseases for the development of novel effective and safe therapies. With the approval of pirfenidone for patients with mild-to-moderate IPF, an earlier diagnosis of IPF is a prerequisite for earlier treatment and, potentially, improvement of the long-term clinical outcome of this progressive and ultimately fatal disease. An earlier diagnosis may be achieved in IPF by promoting thin-slice chest high-resolution computed tomography screening of interstitial lung disease as a “by-product” of large-scale lung cancer screening strategies in smokers, but other techniques, which have been neglected in the past, are now available. Lung auscultation and early identification of “velcro” crackles has been proposed as a key component of early diagnosis of IPF. An ongoing study is exploring correlations between lung sounds on auscultation obtained using electronic stethoscopes and high-resolution computed tomography patterns.

  19. Toe-branchial Index:Values in Diagnosis of Lower Extremity Arterial Diseases of Early DM%趾臂指数诊断早期糖尿病下肢血管病变的价值研究

    Institute of Scientific and Technical Information of China (English)

    王莉; 杨彩哲; 王良宸; 关小宏; 张妲; 陈莹; 王敏

    2014-01-01

    Objective To investigate the values of toe - brachial index(TBI)in diagnosis of lower extremity arterial disease(LEAD)in patients with early diabetes mellitus(DM). Methods A total of 265 T2DM patients hospitalized in de-partment of endocrinology,Air Force General Hospital from June 2012 to August 2013 had ankle branchial index(ABI)and TBI measurement and were divided according to TBI scores,into groups low TBI(L - TBI group,TBI ﹤ 0. 07),normal TBI(N -TBI group,TBI ≥0. 7). The general information and clinical indicators including gender,age,BMI,duration diabetes, smoking history,complications and comorbidities〔 hypertension,coronary heart disease( CHD),cerebrovascular diseases (CVD),diabetic foot(DF)〕,total cholesterol(TC),low density lipoprotein cholesterol(LDL - C),high density lipopro-tein cholesterol(HDL - C),triglycerides(TG),fibrinogen(FIB),glycated hemoglobin(HbA1c )were collected,and dia-betes control rate was analyzed. ABI≤0. 9 was taken as the gold standard for LEAD to evaluate the related indicators of TBI ﹤0. 07 diagnosing LEAD(sensitivity,specificity,positive predictive value,negative predictive value,positive likelihood ratio, negative likelihood ratio). Kappa test was used to assess the consistency between TBI,ABI. Results There were 138 patients in N - TBI group,127 in L - TBI group. There was significant difference in age,duration of diabetes,incidences of hyperten-sion,CHD,DF and CVD,FIB between 2 groups(P ﹤ 0. 05). Serum lipid parameters were measured in 121 of L - TBI group, in 137 of N - TBI group. The control rates of TC,LDL - C were higher in L - TBI group than in N - TBI group(P ﹤ 0. 05). HbA1c was detected in 120 of L - TBI group,26 reached the goal(21. 7% ),and in 131 of N - TBI group,24 reached the goal (18. 3% );the difference was not significant( χ2 = 0. 44,P = 0. 51). The sensitivity of TBI ﹤ 0. 7 diagnosing LEAD was 81. 8% (63 / 77),specificity 71. 5% (313 / 438),the positive predictive value was 33. 5% (63 / 188

  20. Preclinical lung disease in early rheumatoid arthritis.

    Science.gov (United States)

    Robles-Perez, Alejandro; Luburich, Patricio; Rodriguez-Sanchon, Benigno; Dorca, Jordi; Nolla, Joan Miquel; Molina-Molina, Maria; Narvaez-Garcia, Javier

    2016-02-01

    Early detection and treatment of lung disease in patients with rheumatoid arthritis (RA) may ameliorate disease progression. The objectives of this study were to investigate the frequency of asymptomatic lung abnormalities in early RA patients and the potential association of positive RA blood reactive biomolecules with lung involvement. A prospective observational study was performed in a cohort of patients with early RA (joint symptoms disease with a baseline chest radiograph (CR) and complete pulmonary function tests (PFTs). In those patients with lung abnormalities on the CR or PFTs, a high-resolution chest computed tomography scan (HRCT) was performed. We included 40 patients (30 women). Altered PFTs were detected in 18 (45%) of these patients. These cases had a diffusion lung transfer capacity of carbon monoxide (DLCO) of disease is present in up to 45% of early RA patients and can be determined by PFTs and ACPA levels.

  1. Using dementia rating scales in the diagnosis of Alzheimer's disease

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Objective: To study the significance of dementia rating scales in the diagnosis of Alzheimer' s disease (AD).Methods: Probable AD patients(118 cases) diagnosed according to NINCDS-ADRDA criteria and the normal controls(100 cases) were examined with a battery of neuropsychological tests and the dementia severity of AD patients was determined with clinical dementia rating(CDR). Changed neuropsychological characteristics of different AD dementia severities were analyzed. The discriminant analysis and ROC curve analysis were performed to analyze the specificity, the sensitivity, and the general accuracy of various dementia rating scales in the diagnosis of AD, and the area under the ROC curve. Results: The total cognition function in mild (CDR = 1), moderate(CDR = 2) and severe stages(CDR=3) of AD had an obvious trend of continuous decline, with the MMSE values 17.44 ± 2.64, 13.90 ± 4.32, and5.50± 3.90 respectively. The trend of decline of the verbal fluency function in AD was same as that of total cognition function. The visuospatial function was reduced in early stage of AD (CDR = 1 ) and completely lost in moderate and severe AD. Delay memory function began to show decline in the early stage of AD, and the decline turned apparent in moderate and severe AD. Immediate memory function showed unchanged in early stage of AD, while showed decline in moderate AD, and the decline became very quick in severe AD. The impairment of daily living ability and social activity function developed with the severity degree of AD. But the decline of social activity function was very quick in moderate stage of AD. In general, the leading scale to diagnose AD was FOM, followed by RVR, POD, MMSE, BD,ADL and DS. When MMSE was combined with one or more of FOM, RVR, BD, DS, the general accuracy in distinguishing AD from the normal controls was improved. Conclusion: Neuropsychological test is useful in the diagnosis of AD, especially in the early stage. The validity is improved when

  2. Fatigue in early Parkinson’s disease

    Institute of Scientific and Technical Information of China (English)

    秦朝晖

    2012-01-01

    Objective To investigate the prevalence,character-istics and risk factors of fatigue in a large cohort of subjects with early Parkinson’s disease (PD).Methods A total of 391 individuals with PD,recrutied in Linzhi trial, were re-screened. Early, non-depressed subjects

  3. Detection of Huntington’s disease decades before diagnosis: the Predict-HD study

    OpenAIRE

    Paulsen, J. S.; Langbehn, D. R.; Stout, J. C.; Aylward, E; Ross, C A; Nance, M; Guttman, M.; Johnson, S.; MacDonald, M; Beglinger, L.J.; Duff, K.; Kayson, E; Biglan, K; Shoulson, I.; Oakes, D

    2007-01-01

    Objective: The objective of the Predict-HD study is to use genetic, neurobiological and refined clinical markers to understand the early progression of Huntington’s disease (HD), prior to the point of traditional diagnosis, in persons with a known gene mutation. Here we estimate the approximate onset and initial course of various measurable aspects of HD relative to the time of eventual diagnosis. Methods: We studied 438 participants who were positive for the HD gene mutation, but did not yet...

  4. Neonatal Respiratory Distress Syndrome: Early Diagnosis, Prevention, and Treatment

    Directory of Open Access Journals (Sweden)

    S. A. Perepelitsa

    2012-01-01

    Full Text Available to improve treatment results in premature infants with neonatal respiratory distress syndrome (NRDS, by establishing developmental mechanisms and elaborating methods for its early diagnosis, treatment, and prevention. Material and methods. The paper analyzes the results of a clinical observation and laboratory, instrumental, immunological, morphological, and radiological studies of 320 premature neonates at 26—35 weeks gestational age. The following groups of neonates were identified: 1 40 premature neonatal infants without NRDS and with the physiological course of an early neonatal period (a comparison group; 2 190 premature neonates with severe NRDS in whom the efficiency of therapy with exogenous surfactants, such as surfactant BL versus curosurf, was evaluated; 3 90 premature newborn infants who had died from NRDS at its different stages. Results. The poor maternal somatic, obstetric, and gynecological histories in the early periods of the current pregnancy create prerequisites for its termination, favor the development of severe acute gestosis, and cause abnormal placental changes. Each gestational age is marked by certain placental changes that promote impaired uterineplacentalfetal blood flow and premature birth. Alveolar and bronchial epithelial damages, including those ante and intranatally, microcircula tory disorders play a leading role in the tanatogenesis of NRDS. Intranatal hypoxia and amniotic fluid aspiration are one of the important factors contributing to alveolar epithelial damage and NRDS in premature neonates. Exogenous surfactants prevent the development of hyaline membranes and are useful in the normalization of ventilation-perfusion relationships and lung biomechanical properties. Conclusion. This study could improve the diagnosis and treatment of NRDS, which assisted in reducing the duration of mechanical ventilation from 130±7.6 to 65±11.6 hours, the number of complications (the incidence of intragastric

  5. Bilateral Medial Medullary Stroke: A Challenge in Early Diagnosis

    Directory of Open Access Journals (Sweden)

    Amir M. Torabi

    2013-01-01

    Full Text Available Bilateral medial medullary stroke is a very rare type of stroke, with catastrophic consequences. Early diagnosis is crucial. Here, I present a young patient with acute vertigo, progressive generalized weakness, dysarthria, and respiratory failure, who initially was misdiagnosed with acute vestibular syndrome. Initial brain magnetic resonance imaging (MRI that was done in the acute phase was read as normal. Other possibilities were excluded by lumbar puncture and MRI of cervical spine. MR of C-spine showed lesion at medial medulla; therefore a second MRI of brain was requested, showed characteristic “heart appearance” shape at diffusion weighted (DWI, and confirmed bilateral medial medullary stroke. Retrospectively, a vague-defined hyperintense linear DWI signal at midline was noted in the first brain MRI. Because of the symmetric and midline pattern of this abnormal signal and similarity to an artifact, some radiologists or neurologists may miss this type of stroke. Radiologists and neurologists must recognize clinical and MRI findings of this rare type of stroke, which early treatment could make a difference in patient outcome. The abnormal DWI signal in early stages of this type of stroke may not be a typical “heart appearance” shape, and other variants such as small dot or linear DWI signal at midline must be recognized as early signs of stroke. Also, MRI of cervical spine may be helpful if there is attention to brainstem as well.

  6. Magnetic resonance imaging applications in early rheumatoid arthritis diagnosis and management.

    Science.gov (United States)

    Troum, Orrin M; Pimienta, Olga; Olech, Ewa

    2012-05-01

    Early diagnosis and treatment have been recognized as essential for improving clinical outcomes in patients with rheumatoid arthritis (RA). Magnetic resonance imaging (MRI) is a sensitive modality that can assess both inflammatory and structural lesions. MRI can assist in following the disease course in patients treated with traditional disease-modifying antirheumatic drugs and biological therapies both in the clinic and in research trials. Therefore, it is anticipated that MRI becomes the diagnostic imaging modality of choice in RA clinical trials while remaining a useful tool for clinicians evaluating patients with RA.

  7. Nested polymerase chain reaction for early diagnosis of typhoid fever.

    Science.gov (United States)

    Sultana, S; Hossain, M A; Alam, M A; Paul, S K; Mahmud, C; Kabir, M R; Haque, N; Yesmin, T; Kayes, M T; Maruf, A A; Kobayashi, N

    2012-01-01

    Typhoid fever, caused by Salmonella typhi, is an important cause of morbidity and mortality in many developing countries. A rapid and sensitive method for the detection of S. typhi is essential for early diagnosis. This was a study to prospectively evaluate the sensitivity and specificity of nested polymerase chain reaction (PCR) to identify the S. typhi using flagellin gene related primers. The study was carried out in the department of Microbiology, Mymensingh Medical College, Mymensingh between July, 2010 and June, 2011, including 82 individuals of different age and sex. Of them, 62 were clinically suspected cases of typhoid fever and remaining 20 were apparently healthy controls. Cultures as well as PCR of blood specimens were performed for each of the cases. Among the 62 suspected typhoid fever cases, 8(12.9%) were blood culture positive and 55(88.7%) were PCR positive for S. typhi. All culture positive cases were positive by PCR and among 54 culture negative cases, 47(87%) were positive by PCR. Neither of the healthy controls was positive by PCR or blood culture. The sensitivity, specificity, positive predictive value and negative predictive value of PCR using blood culture as gold standard were 88.7%, 100%, 100% and 74% respectively for typhoid fever. In this study, the PCR appears highly specific, very sensitive and superior to blood culture for the early diagnosis of typhoid fever.

  8. EARLY DIAGNOSIS OF MYELODYSPLASTIC SYNDROMES USING CLONAL ANALYSES

    Institute of Scientific and Technical Information of China (English)

    钱军; 薛永权; 虞斐; 吴亚芳; 潘金兰; 陆定伟

    2002-01-01

    Objective: To study the value of clonal analysis to the early diagnosis of myelodysplastic syndrome (MDS). Methods: Four types of clonal analyses were performed on the bone marrow samples from 50 patients suspected of MDS: (1) Conventional Cytogenetics (CC) for clonal chromosomal abnormalities; (2) BrdU-Sister Chromatid Differentiation (BrdU-SCD) for cell cycle kinetics; (3) Fluorescence in Situ Hybridization (FISH) for trisomy 8; (4) Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) for N-ras mutation. Results: The diagnosis of forty-three patients was compatible with the FAB criteria for MDS. The other seven cases didn't meet the FAB criteria, with only one lineage of dyspoiesis or with no obvious dysplastic changes. Among these seven cases, two were morphologically diagnosed with suspicious refractory anemia, one with sideroblastic anemia, one with leukemoid reaction, one with hypercellular anemia and two with chronic aplastic anemia. Clonal analyses of the 7 patients showed that six cases had clonal karyotype abnormalities, four had prolonged cell cycle patterns, four had trisomy 8 of different proportions and one had mutation of the exon 1 of N-RAS. Thus, they were revaluated as MDS patients. Conclusion: The untypical MDS patients with one lineage dyspoiesis or without obvious dysplastic changes can be diagnosed early by combining multiple clonal analysis techniques such as CC, SCD, FISH and PCR-SSCR.

  9. Clostridium difficile: clinical disease and diagnosis.

    OpenAIRE

    Knoop, F C; Owens, M.; Crocker, I C

    1993-01-01

    Clostridium difficile is an opportunistic pathogen that causes a spectrum of disease ranging from antibiotic-associated diarrhea to pseudomembranous colitis. Although the disease was first described in 1893, the etiologic agent was not isolated and identified until 1978. Since clinical and pathological features of C. difficile-associated disease are not easily distinguished from those of other gastrointestinal diseases, including ulcerative colitis, chronic inflammatory bowel disease, and Cro...

  10. Tzanck Cytology in Diagnosis of Autoimmune Bullous Diseases

    Directory of Open Access Journals (Sweden)

    Murat Durdu

    2011-06-01

    Full Text Available Tzanck smear test is a simple, rapid, repeatable, and inexpensive diagnostic method based on the investigation of characteristics of individual cells. For diagnosis of cutaneous diseases, cytology was first used by Arnault Tzanck in 1947. After this date, Tzanck cytology has been used in the diagnosis of various erosive-vesiculobullous, nodular, and tumoral skin lesions. In daily dermatology practice, the most common use areas of cytology are diagnosis of herpetic infections, cutaneous leishmaniasis, leprosy, and autoimmune bullous diseases. The purpose of cytology in autoimmune bullous diseases is to rapidly distinguish pemphigus from subepidermal bullous disease. In this review article, taking and staining methods of cytologic specimen for the diagnosis of autoimmune bullous diseases, and the cytologic findings have been reviewed.

  11. Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.

    Science.gov (United States)

    Ville, Dorothée; Ginguene, Carole; Marignier, Stéphanie; des Portes, Vincent; de Bellescize, Jullita

    2013-11-01

    Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease. A delay of treatment may affect outcome and early initiation of pyridoxine based on effective diagnosis is crucial to ensure good cognitive outcome in neonates. A consensus for the diagnosis of PDE is based on refractive seizures and responsiveness to pyridoxine, however, a growing body of evidence suggests that additional elements should be considered which include biochemical data, genetic screening, and EEG monitoring. We present a case study of a neonate with PDE, who presented with misleading clinical presentation and a novel mutation in the antiquitin (ALDH7A1) gene (A294V), and highlight important aspects in order to consider the definition of diagnosis and management of PDE in the light of more recent data.

  12. Early Diagnosis of Cutaneous Mucormycosis Due to Lichtheimia corymbifera After a Traffic Accident.

    Science.gov (United States)

    Tyll, Tomas; Lyskova, Pavlina; Hubka, Vit; Muller, Martin; Zelenka, Lubomir; Curdova, Martina; Tuckova, Inna; Kolarik, Miroslav; Hamal, Petr

    2016-02-01

    A case report of cutaneous mucormycosis and obstacles to early diagnosis is presented. A 38-year-old male was involved in a car accident that led to amputation of both lower limbs. Subsequently, he developed fungal wound infection of the left lower limb stump. The infection was detected very early, although the diagnosis was difficult because only a small area was affected and histopathological examination was initially negative. The infection was proven by microscopy, culture and histopathology. The isolate was identified by sequencing of the rDNA ITS region gene (internal transcribed spacer region of ribosomal DNA) as Lichtheimia corymbifera. Liposomal amphotericin B and surgery were successful in management of the disease.

  13. Comparison of clinical and paraclinical parameters as tools for early diagnosis of classical swine fever

    DEFF Research Database (Denmark)

    Lohse, Louise; Uttenthal, Åse; Nielsen, Jens

    -economic as well as the animal welfare consequences of an outbreak of classical swine fever (CSF), early diagnosis is essential. However, host-virus interactions strongly influence the course of CSF disease, and the clinical feature is not clear, thus complicating the diagnostic perspective. At the National......Comparison of clinical and paraclinical parameters as tools for early diagnosis of classical swine fever. Louise Lohse, Åse Uttenthal, Jens Nielsen. National Veterinary Institute, Division of Virology, Lindholm, Technical University of Denmark. Introduction: In order to limit the far-reaching socio...... demonstrated that it remains a particular challenge to provide a competent diagnostic tool box for low virulent strains of CSFV, e.g. CSFV-Glentorf. Acknowledgements: The authors wish to thank the EU Reference laboratory for Classical Swine Fever, TIHO, Hannover, for kindly supplying the CSFV-Romania, the CSFV...

  14. Palatal radicular groove: Clinical implications of early diagnosis and surgical sealing

    Directory of Open Access Journals (Sweden)

    P Corrêa-Faria

    2011-01-01

    Full Text Available Palatal radicular groove is a discreet alteration in tooth morphology, characterized by an invagination that begins near the cingulum of the tooth and moves in an apical direction. Clinically, palatal radicular groove may be associated with periodontal and/or endodontic problems. This paper describes a clinical case of a young patient with palatal radicular groove with no signs of periodontal disease or endodontic impairment. An early diagnosis was made and treatment consisted of surgical sealing of the defect. After a 2-year period, reexaminations demonstrated adequate hygiene, maintenance of tooth vitality and periodontal health. The early diagnosis and sealing of the groove observed surgically made the root surface smooth, avoiding subgingival bacterial plaque buildup, and preventing possible periodontal and/or pulp impairment stemming from the defect.

  15. Genetics and cardiovascular disease: the impact of molecular diagnosis.

    Science.gov (United States)

    Vengoechea, Jaime; McKelvey, Kent D

    2013-04-01

    Information technology is exponentially reducing the cost of genetic testing while multiple clinical applications emerge. Genetic diagnosis increasingly impacts prevention, diagnosis and treatment of disease. In cardiovascular medicine, the establishment of a specific genetic diagnosis may affect management of cardiomyopathy, arrhythmia, connective tissue and metabolic disease. Econometric studies have determined that genetic testing is cost-effective in hypertrophic cardiomyopathy and disease-specific interventions are now available for specific conditions. Identification of a specific genetic disorder now allows for more precise medicine in the affected individual and more accurate preventive care for asymptomatic family members.

  16. Fabry disease and early stroke

    DEFF Research Database (Denmark)

    Feldt-Rasmussen, U

    2011-01-01

    Fabry disease, an X-linked lysosomal storage disorder, results from deficient activity of the enzyme a-galactosidase A. Affected males with the classic phoenotype have acroparaesthesias, hypohidrosis, and corneal opacities in childhood and develop renal failure, cardiac hypertrophy or strokes...... in the third to fifth decade of life. Some female heterozygotes are asymptomatic, some as severely affected as males. The natural history of Fabry patients includes transitory cerebral ischaemia and strokes, even in very young persons of both genders. The mechanism is partly due to vascular endothelial...... accumulation of GL-3. White matter lesions on MRI occur. Both males and females can be safely treated with enzyme replacement; and thus screening for Fabry disease of young stroke populations should be considered. There are, however, no hard data of treatment effect on mortality and morbidity. The analyses...

  17. Fabry disease and early stroke

    DEFF Research Database (Denmark)

    Feldt-Rasmussen, U

    2011-01-01

    Fabry disease, an X-linked lysosomal storage disorder, results from deficient activity of the enzyme α-galactosidase A. Affected males with the classic phoenotype have acroparaesthesias, hypohidrosis, and corneal opacities in childhood and develop renal failure, cardiac hypertrophy or strokes...... in the third to fifth decade of life. Some female heterozygotes are asymptomatic, some as severely affected as males. The natural history of Fabry patients includes transitory cerebral ischaemia and strokes, even in very young persons of both genders. The mechanism is partly due to vascular endothelial...... accumulation of GL-3. White matter lesions on MRI occur. Both males and females can be safely treated with enzyme replacement; and thus screening for Fabry disease of young stroke populations should be considered. There are, however, no hard data of treatment effect on mortality and morbidity. The analyses...

  18. Pelvic Inflammatory Disease: Diagnosis And Treatment In The Emergency Department.

    Science.gov (United States)

    Bugg, Charles Walter; Taira, Taku

    2016-12-01

    Pelvic inflammatory disease is a common disease that is associated with significant complications including infertility, chronic pelvic pain, ruptured tubo-ovarian abscess, and ectopic pregnancy. The diagnosis may be delayed when the presentation has nonspecific signs and symptoms. Even when it is properly identified, pelvic inflammatory disease is often treated suboptimally. This review provides evidence-based recommendations for the diagnosis, treatment, disposition, and follow-up of patients with pelvic inflammatory disease. Arranging follow-up of patients within 48 to 72 hours and providing clear patient education are fundamental to ensuring good patient outcomes. Emerging issues, including new pathogens and evolving resistance patterns among pelvic inflammatory disease pathogens are reviewed.

  19. The early history of Dupuytren's disease.

    Science.gov (United States)

    Elliot, D

    1999-02-01

    Dupuytren's disease may have originated among the Vikings of northern Europe. Possible association of the disease with the Scottish bagpipe-playing MacCrimmon clan and the Papal Sign of Benediction also are examined. The evolution of pathologic understanding and the advent of surgical treatment of the disease in the late eighteenth and early nineteenth centuries in Europe and North America are reviewed in detail.

  20. Brain Substrates of Learning and Retention in Mild Cognitive Impairment Diagnosis and Progression to Alzheimer's Disease

    Science.gov (United States)

    Chang, Yu-Ling; Bondi, Mark W.; Fennema-Notestine, Christine; McEvoy, Linda K.; Hagler, Donald J., Jr.; Jacobson, Mark W.; Dale, Anders M.

    2010-01-01

    Understanding the underlying qualitative features of memory deficits in mild cognitive impairment (MCI) can provide critical information for early detection of Alzheimer's disease (AD). This study sought to investigate the utility of both learning and retention measures in (a) the diagnosis of MCI, (b) predicting progression to AD, and (c)…

  1. Screening, diagnosis, and management of patients with Fabry disease

    DEFF Research Database (Denmark)

    Schiffmann, Raphael; Hughes, Derralynn A; Linthorst, Gabor E

    2017-01-01

    Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease and cardiovascular disease. The availability of specific but costly therapy has elevated the profile of this rare condition. This KDIGO conference addressed controversial areas in the diagnosis, screening, a...

  2. Diagnosis and management of fistulizing Crohn's disease

    DEFF Research Database (Denmark)

    Nielsen, Ole Haagen; Rogler, Gerhard; Hahnloser, Dieter

    2009-01-01

    The transmural inflammation characteristic of Crohn's disease predisposes patients to the formation of fistulas. Up to 50% of patients with Crohn's disease are affected by fistulas, which is a major problem given the considerable morbidity associated with this complication. Appropriate treatment...... of fistulizing Crohn's disease. Particular focus is given to external and perianal fistulas, for which treatment options are well established. Available therapeutic options, including novel therapies, are discussed. Wherever possible, practical and evidence-based treatment regimens for Crohn's disease...

  3. Legionella (Legionnaires' Disease and Pontiac Fever): Diagnosis

    Science.gov (United States)

    ... Diagnóstico Legionellosis can present as two types of illness: Legionnaires’ disease and Pontiac fever. The two illnesses can be ... every 10 people who get sick with Legionnaires’ disease will die due to complications from their illness.[ 1 ] For those who get Legionnaires’ disease during ...

  4. Early-onset Lafora body disease

    Science.gov (United States)

    Turnbull, Julie; Girard, Jean-Marie; Lohi, Hannes; Chan, Elayne M.; Wang, Peixiang; Tiberia, Erica; Omer, Salah; Ahmed, Mushtaq; Bennett, Christopher; Chakrabarty, Aruna; Tyagi, Atul; Liu, Yan; Pencea, Nela; Zhao, XiaoChu; Scherer, Stephen W.; Ackerley, Cameron A.

    2012-01-01

    The most common progressive myoclonus epilepsies are the late infantile and late infantile-variant neuronal ceroid lipofuscinoses (onset before the age of 6 years), Unverricht–Lundborg disease (onset after the age of 6 years) and Lafora disease. Lafora disease is a distinct disorder with uniform course: onset in teenage years, followed by progressively worsening myoclonus, seizures, visual hallucinations and cognitive decline, leading to a vegetative state in status myoclonicus and death within 10 years. Biopsy reveals Lafora bodies, which are pathognomonic and not seen with any other progressive myoclonus epilepsies. Lafora bodies are aggregates of polyglucosans, poorly constructed glycogen molecules with inordinately long strands that render them insoluble. Lafora disease is caused by mutations in the EPM2A or EPM2B genes, encoding the laforin phosphatase and the malin ubiquitin ligase, respectively, two cytoplasmically active enzymes that regulate glycogen construction, ensuring symmetric expansion into a spherical shape, essential to its solubility. In this work, we report a new progressive myoclonus epilepsy associated with Lafora bodies, early-onset Lafora body disease, map its locus to chromosome 4q21.21, identify its gene and mutation and characterize the relationship of its gene product with laforin and malin. Early-onset Lafora body disease presents early, at 5 years, with dysarthria, myoclonus and ataxia. The combination of early-onset and early dysarthria strongly suggests late infantile-variant neuronal ceroid lipofuscinosis, not Lafora disease. Pathology reveals no ceroid lipofuscinosis, but Lafora bodies. The subsequent course is a typical progressive myoclonus epilepsy, though much more protracted than any infantile neuronal ceroid lipofuscinosis, or Lafora disease, patients living into the fourth decade. The mutation, c.781T>C (Phe261Leu), is in a gene of unknown function, PRDM8. We show that the PRDM8 protein interacts with laforin and malin and

  5. Non-Motor Symptoms of Parkinson's Disease: Diagnosis and ...

    African Journals Online (AJOL)

    Non-Motor Symptoms of Parkinson's Disease: Diagnosis and Management. ... These include olfactory deficit, sleep problems such as rapid eye movement behaviour disorder, constipation and the more recently described ... Article Metrics.

  6. Improving outcomes in patients with melanoma: strategies to ensure an early diagnosis

    Directory of Open Access Journals (Sweden)

    Voss RK

    2015-11-01

    Full Text Available Rachel K Voss,1 Tessa N Woods,1 Kate D Cromwell,1 Kelly C Nelson,2 Janice N Cormier1 1Department of Surgical Oncology, 2Department of Dermatology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA Abstract: Patients with thin, low-risk melanomas have an excellent long-term prognosis and higher quality of life than those who are diagnosed at later stages. From an economic standpoint, treatment of early stage melanoma consumes a fraction of the health care resources needed to treat advanced disease. Consequently, early diagnosis of melanoma is in the best interest of patients, payers, and health care systems. This review describes strategies to ensure that patients receive an early diagnosis through interventions ranging from better utilization of primary care clinics, to in vivo diagnostic technologies, to new “apps” available in the market. Strategies for screening those at high risk due to age, male sex, skin type, nevi, genetic mutations, or family history are discussed. Despite progress in identifying those at high risk for melanoma, there remains a lack of general consensus worldwide for best screening practices. Strategies to ensure early diagnosis of recurrent disease in those with a prior melanoma diagnosis are also reviewed. Variations in recurrence surveillance practices by type of provider and country are featured, with evidence demonstrating that various imaging studies, including ultrasound, computed tomography, positron emission tomography, and magnetic resonance imaging, provide only minimal gains in life expectancy, even for those with more advanced (stage III disease. Because the majority of melanomas are attributable to ultraviolet radiation in the form of sunlight, primary prevention strategies, including sunscreen use and behavioral interventions, are reviewed. Recent international government regulation of tanning beds is described, as well as issues surrounding the continued use artificial ultraviolet

  7. Creutzfeldt-jakob, Parkinson, lewy body dementia and Alzheimer diseases: from diagnosis to therapy.

    Science.gov (United States)

    Dupiereux, Ingrid; Zorzi, Willy; Quadrio, Isabelle; Perret-Liaudet, Armand; Kovacs, Gabor G; Heinen, Ernst; Elmoualij, Benaïssa

    2009-03-01

    Depositions of proteins in form of amyloid and non-amyloid plaques are common pathogenic signs of more than 20 degenerative diseases affecting the central nervous system or a variety of peripheral tissues. Among the neuropathological conditions, Alzheimer's, Parkinson's and the prion diseases, such as Creutzfeldt-Jakob disease (CJD), present ambiguities as regarding their differential diagnosis. At present, their diagnosis must be confirmed by post-mortem examination of the brain. Currently the ante-mortem diagnosis is still based on the integration of multiple data (clinical, paraclinical and biological analyses) because no unique marker exists for such diseases. The detection of specific biomarkers would be useful to develop a differential diagnostic, distinguishing not only different neurodegenerative diseases but also the disease from the non-pathological effects of aging. Several neurodegenerative biomarkers are present at very low levels during the early stages of the disease development and their ultra-low detection is needed for early diagnosis, which should permit more effective therapeutic interventions, before the disease concerned can progress to a stage where considerable damage to the brain has already occurred. In the case of prion diseases, there are concerns regarding not only patient care, but the wider community too, with regard to the risk of transmission of prions, especially during blood transfusion, for which, four cases of variant CJD infection associated with transfusion of non-leukocyte-depleted blood components have been confirmed. Therefore the development of techniques with high sensitivity and specificity represent the major challenge in the field of the protein misfolding diseases. In this paper we review the current analytical and/or biochemical diagnostic technologies used mainly in prion, but also in Alzheimer and Parkinson diseases and emphasizing work on the protein detection as a surrogates and specific biomarker in the body

  8. Computer-assisted initial diagnosis of rare diseases

    Directory of Open Access Journals (Sweden)

    Rui Alves

    2016-07-01

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

  9. Computer-assisted initial diagnosis of rare diseases

    Science.gov (United States)

    Piñol, Marc; Vilaplana, Jordi; Teixidó, Ivan; Cruz, Joaquim; Comas, Jorge; Vilaprinyo, Ester; Sorribas, Albert

    2016-01-01

    Introduction. Most documented rare diseases have genetic origin. Because of their low individual frequency, an initial diagnosis based on phenotypic symptoms is not always easy, as practitioners might never have been exposed to patients suffering from the relevant disease. It is thus important to develop tools that facilitate symptom-based initial diagnosis of rare diseases by clinicians. In this work we aimed at developing a computational approach to aid in that initial diagnosis. We also aimed at implementing this approach in a user friendly web prototype. We call this tool Rare Disease Discovery. Finally, we also aimed at testing the performance of the prototype. Methods. Rare Disease Discovery uses the publicly available ORPHANET data set of association between rare diseases and their symptoms to automatically predict the most likely rare diseases based on a patient’s symptoms. We apply the method to retrospectively diagnose a cohort of 187 rare disease patients with confirmed diagnosis. Subsequently we test the precision, sensitivity, and global performance of the system under different scenarios by running large scale Monte Carlo simulations. All settings account for situations where absent and/or unrelated symptoms are considered in the diagnosis. Results. We find that this expert system has high diagnostic precision (≥80%) and sensitivity (≥99%), and is robust to both absent and unrelated symptoms. Discussion. The Rare Disease Discovery prediction engine appears to provide a fast and robust method for initial assisted differential diagnosis of rare diseases. We coupled this engine with a user-friendly web interface and it can be freely accessed at http://disease-discovery.udl.cat/. The code and most current database for the whole project can be downloaded from https://github.com/Wrrzag/DiseaseDiscovery/tree/no_classifiers. PMID:27547534

  10. Computer-assisted initial diagnosis of rare diseases.

    Science.gov (United States)

    Alves, Rui; Piñol, Marc; Vilaplana, Jordi; Teixidó, Ivan; Cruz, Joaquim; Comas, Jorge; Vilaprinyo, Ester; Sorribas, Albert; Solsona, Francesc

    2016-01-01

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

  11. Congenital heart disease in the newborn requiring early intervention

    Directory of Open Access Journals (Sweden)

    Sin Weon Yun

    2011-05-01

    Full Text Available Although antenatal diagnostic technique has considerably improved, precise detection and proper management of the neonate with congenital heart disease (CHD is always a great concern to pediatricians. Congenital cardiac malformations vary from benign to serious conditions such as complete transposition of the great arteries (TGA, critical pulmonary and aortic valvular stenosis/atresia, hypoplastic left heart syndrome (HLHS, obstructed total anomalous pulmonary venous return (TAPVR, which the baby needs immediate diagnosis and management for survival. Unfortunately, these life threatening heart diseases may not have obvious evidence early after birth, most of the clinical and physical findings are nonspecific and vague, which makes the diagnosis difficult. High index of suspicion and astute acumen are essential to decision making. When patent ductus arteriosus (PDA is opened widely, many serious malformations may not be noticed easily in the early life, but would progress as severe acidosis/shock/cyanosis or even death as PDA constricts after few hours to days. Ductus dependent congenital cardiac lesions can be divided into the ductus dependent systemic or pulmonary disease, but physiologically quite different from each other and treatment strategy has to be tailored to the clinical status and cardiac malformations. Inevitably early presentation is often regarded as a medical emergency. Differential diagnosis with inborn error metabolic disorders, neonatal sepsis, persistent pulmonary hypertension of the newborn (PPHN and other pulmonary conditions are necessary. Urgent identification of the newborn at such high risk requires timely referral to a pediatric cardiologist, and timely intervention is the key in reducing mortality and morbidity. This following review deals with the clinical presentations, investigative modalities and approach to management of congenital cardiac malformations presenting in the early life.

  12. Computer-aided diagnosis expert system for cerebrovascular diseases.

    Science.gov (United States)

    Chen, Xu; Wang, Zhijun; Sy, Chrisopher; Liu, Xiaokun; Qian, Jinwu; Zheng, Jia; Dong, Zhiqiang; Cao, Limei; Geng, Xiang; Xu, Shuye; Liu, Xueyuan

    2014-05-01

    To establish an expert diagnosis system for cerebrovascular diseases (CVDs) and assess accuracy of the diagnosis system. An expert diagnosis system for CVDs was established and evaluated using actual clinical cases. An expert diagnosis system for CVDs was established and tested in 319 clinical patients. Diagnosis accordance was obtained in 307 patients (the diagnosis accordance rate was 96.2%). Involved were 223, 7, 23, 54 and 12 patients with cerebral thrombosis, cerebral embolism, transient ischemic attack, cerebral hemorrhage and subarachnoid hemorrhage, respectively; and diagnosis accordance was obtained in 219 (98.2%), 6 (85.7%), 23 (100%), 48 (88.9%) and 11 (91.7%), respectively. Overall, the case analysis results support and demonstrate the diagnostic reasoning accuracy of the expert diagnosis system for CVDs. With the expert diagnosis system, medical experts' diagnosis of CVDs can be effectively mimicked and auxiliary diagnosis of CVDs has been preliminarily realized, laying a foundation for increasing the diagnostic accuracy of clinical diagnoses as it pertains to CVDs.

  13. Molecular diagnosis of putative Stargardt disease by capture next generation sequencing.

    Science.gov (United States)

    Zhang, Xiao; Ge, Xianglian; Shi, Wei; Huang, Ping; Min, Qingjie; Li, Minghan; Yu, Xinping; Wu, Yaming; Zhao, Guangyu; Tong, Yi; Jin, Zi-Bing; Qu, Jia; Gu, Feng

    2014-01-01

    Stargardt Disease (STGD) is the commonest genetic form of juvenile or early adult onset macular degeneration, which is a genetically heterogeneous disease. Molecular diagnosis of STGD remains a challenge in a significant proportion of cases. To address this, seven patients from five putative STGD families were recruited. We performed capture next generation sequencing (CNGS) of the probands and searched for potentially disease-causing genetic variants in previously identified retinal or macular dystrophy genes. Seven disease-causing mutations in ABCA4 and two in PROM1 were identified by CNGS, which provides a confident genetic diagnosis in these five families. We also provided a genetic basis to explain the differences among putative STGD due to various mutations in different genes. Meanwhile, we show for the first time that compound heterozygous mutations in PROM1 gene could cause cone-rod dystrophy. Our findings support the enormous potential of CNGS in putative STGD molecular diagnosis.

  14. Current diagnosis and treatment of Castleman's disease.

    Science.gov (United States)

    González García, A; Moreno Cobo, M Á; Patier de la Peña, J L

    2016-04-01

    Castleman's disease is not just a single disease but rather an uncommon, heterogeneous group of nonclonal lymphoproliferative disorders, which have a broad spectrum of clinical expression. Three histological types have been reported, along with several clinical forms according to clinical presentation, histological substrate and associated diseases. Interleukin-6, its receptor polymorphisms, the human immunodeficiency virus and the human herpes virus 8 are involved in the etiopathogenesis of Castleman's disease. The study of this disease has shed light on a syndrome whose incidence is unknown. Despite recent significant advances in our understanding of this disease and the increasing therapeutic experience with rituximab, tocilizumab and siltuximab, there are still difficult questions concerning its aetiology, prognosis and optimal treatment. Copyright © 2015 Elsevier España, S.L.U. y Sociedad Española de Medicina Interna (SEMI). All rights reserved.

  15. [Malignant neuroleptic syndrome--a possibility for early diagnosis].

    Science.gov (United States)

    Rasmussen, K T; Scherling, A

    1991-10-21

    A 17-year-old man developed the malignant neuroleptic syndrome and recovered after the neuroleptic drug was discontinued. When the treatment with the neuroleptic was resumed four weeks later, an elevated serum creatine kinase level was found without any other symptoms of the malignant neuroleptic syndrome. The neuroleptic was discontinued and the serum creatine kinase level was normalized. In both episodes, serum creatine kinase level was followed daily. The elimination of creatine kinase followed a first order kinetic, indicating that release of the enzyme to the blood stopped as soon the neuroleptic was discontinued. In the second episode, the increase in serum creatine kinase level was found before the symptoms of malignant neuroleptic syndrome appeared. This opens a possible way to early diagnosis and in that way prevention of severe symptoms.

  16. GEAR CRACK EARLY DIAGNOSIS USING BISPECTRUM DIAGONAL SLICE

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    A study of bispectral analysis in gearbox condition monitoring is presented.The theory of bispectrum and quadratic phase coupling (QPC) is first introduced, and then equations for computing bispectrum slices are obtained.To meet the needs of online monitoring, a simplified method of computing bispectrum diagonal slice is adopted.Industrial gearbox vibration signals measured from normal and tooth cracked conditions are analyzed using the above method.Experiments results indicate that bispectrum can effectively suppress the additive Gaussian noise and chracterize the QPC phenomenon.It is also shown that the 1-D bispectrum diagonal slice can capture the non-Gaussian and nonlinear feature of gearbox vibration when crack occurred, hence, this method can be employed to gearbox real time monitoring and early diagnosis.

  17. Case for diagnosis. Metastatic Crohn's disease*

    Science.gov (United States)

    Gontijo, João Renato Vianna; Leidenz, Franciele Antonieta Bianchi; de Sousa, Maria Silvia Laborne Alves

    2016-01-01

    Metastatic Crohn's disease is a rare skin manifestation, defined by granulomatous skin lesions that are discontinuous to the affected gastrointestinal tract and histopathologically resembling inflammatory bowel lesions. Up to 44% of patients with Crohn's disease have cutaneous manifestations, of which metastatic lesions are the least common. We present a case of an adolescent with refractory Crohn's disease and persistent papules and plaques on the skin. PMID:27579756

  18. {sup 18}F-FDG positron emission tomography in the early diagnosis of enterocolitis: preliminary results

    Energy Technology Data Exchange (ETDEWEB)

    Kresnik, E.; Gallowitsch, H.J.; Igerc, I.; Kumnig, G.; Gomez, I.; Lind, P. [Nuclear Medicine and Special Endocrinology, PET Centre, General Hospital, St. Veiterstrasse 47, 9020 Klagenfurt (Austria); Mikosch, P.; Alberer, D.; Hebenstreit, A. [Department of Internal Medicine and Gastroenterology, General Hospital, Klagenfurt (Austria); Wuertz, F. [Department of Pathology, General Hospital, Klagenfurt (Austria); Kogler, D.; Gasser, J. [Department of Radiology, General Hospital, Klagenfurt (Austria)

    2002-10-01

    Collagenous and eosinophilic colitis are rare diseases characterised by chronic watery diarrhoea. Radiographic evaluation of the gastrointestinal tract and colonoscopy are usually non-diagnostic since as many as one-third of patients will have minor abnormalities. To date a few investigators have reported increased fluorine-18 fluorodeoxyglucose ({sup 18}F-FDG) uptake on positron emission tomography (PET) in patients with acute enterocolitis, but there have been no reports on the use of {sup 18}F-FDG PET for the diagnosis of collagenous or eosinophilic colitis in an early clinical stage. The aim of this preliminary study was to evaluate the usefulness of {sup 18}F-FDG PET in the early diagnosis of patients with colitis. We investigated five women (mean age 61.2{+-}12.1 years) who had been diagnosed as having colitis in an early clinical stage. In all but one of the patients, the diagnosis of colitis was based on biopsy. Magnetic resonance colonography, ultrasonography and colonoscopy were performed in all but one of the patients. Two women were identified as having collagenous colitis in an early clinical stage. Another two patients had eosinophilic colitis. The morphological imaging methods, magnetic resonance colonography and ultrasonography, yielded no suspicious findings, and the results of colonoscopy similarly showed no abnormalities. One patient had colitis due to bacterial infection. In all patients {sup 18}F-FDG PET showed a pathological increase in tracer uptake in the large bowel, suggestive of colitis. In four of the five patients, colitis was confirmed by histology, and in one, by bacterial analysis. {sup 18}F-FDG PET was able to detect colitis in an early clinical stage, when morphological imaging methods and colonoscopy were non-diagnostic. The early performance of {sup 18}F-FDG PET imaging in patients with possible colitis is encouraging. (orig.)

  19. Sex Differences in Clinical Features of Early, Treated Parkinson's Disease.

    Directory of Open Access Journals (Sweden)

    Erika F Augustine

    Full Text Available To improve our understanding of sex differences in the clinical characteristics of Parkinson's Disease, we sought to examine differences in the clinical features and disease severity of men and women with early treated Parkinson's Disease (PD enrolled in a large-scale clinical trial.Analysis was performed of baseline data from the National Institutes of Health Exploratory Trials in Parkinson's Disease (NET-PD Long-term Study-1, a randomized, multi-center, double-blind, placebo-controlled study of 10 grams of oral creatine/day in individuals with early, treated PD. We compared mean age at symptom onset, age at PD diagnosis, and age at randomization between men and women using t-test statistics. Sex differences in clinical features were evaluated, including: symptoms at diagnosis (motor and symptoms at randomization (motor, non-motor, and daily functioning.1,741 participants were enrolled (62.5% male. No differences were detected in mean age at PD onset, age at PD diagnosis, age at randomization, motor symptoms, or daily functioning between men and women. Differences in non-motor symptoms were observed, with women demonstrating better performance compared to men on SCOPA-COG (Z = 5.064, p<0.0001 and Symbol Digit Modality measures (Z = 5.221, p<0.0001.Overall, men and women did not demonstrate differences in clinical motor features early in the course of PD. However, the differences observed in non-motor cognitive symptoms suggests further assessment of the influence of sex on non-motor symptoms in later stages of PD is warranted.

  20. Multiaxial diagnosis and the psychosomatic model of disease.

    Science.gov (United States)

    Oken, D

    2000-01-01

    Current medical diagnosis reflects the prevailing biomedical model of disease. A need exists for a new system of diagnosis that, instead, is based on the psychosomatic model. This article presents an analysis of the underlying framework of the multiaxial system developed in recent years for diagnosis in Psychiatry that indicates its relevance to the psychosomatic model. It goes on to describe a new multiaxial system of diagnosis derived from that analysis that allows diagnosis to be stated as a process of adaptation in the environment, which includes biological, psychological, and social factors. The practical application of this system to the broad range of medical illnesses is explained and illustrated. This multiaxial approach represents a first step toward, and a stimulus for, the development of a better diagnostic system that can provide one basis for the crucial transformation of medical care to reflect the psychosomatic model of disease.

  1. Future perspective for diagnosis in autoimmune diseases

    OpenAIRE

    Luis E. C. Andrade

    2009-01-01

    Human beings have taken successive approaches for the understanding and management of diseases. Initially brewed in supernatural concepts and mystical procedures, a vigorous scientific approach has emerged on the grounds of fundamental disciplines such as anatomy, microbiology, biochemistry, physiology, immunology, pathology, and pharmacology. The resulting integrated knowledge contributed to the current classification of diseases and the way Medicine is carried out today. Despite considerabl...

  2. Alzheimer's disease: studies of diagnosis and therapy

    NARCIS (Netherlands)

    J.J. Claus (Jules Johan)

    1993-01-01

    textabstractDespite tremendous recent advances in the clinical neurology, neurobiology and epidemiology of Alzheimer's disease, the cause as well as its treatment remains as much a mystery today as when it was first described in 1907 by Alois Alzheimer.' Alzheimer's disease, the most common type

  3. Diagnosis and management of bullous disease.

    Science.gov (United States)

    Hurley, Maria Yadira; Mattox, Adam R

    2013-05-01

    As the population ages, the prevalence of bullous skin diseases will escalate. Efficient management depends on timely recognition by the physician and reduces the morbidity associated with the disease course. This article outlines the common bullous dermatoses affecting older adults and provides tips for a streamlined approach to workup and treatment.

  4. Amyloid β oligomers in Alzheimer's disease pathogenesis, treatment, and diagnosis.

    Science.gov (United States)

    Viola, Kirsten L; Klein, William L

    2015-02-01

    Protein aggregation is common to dozens of diseases including prionoses, diabetes, Parkinson's and Alzheimer's. Over the past 15 years, there has been a paradigm shift in understanding the structural basis for these proteinopathies. Precedent for this shift has come from investigation of soluble Aβ oligomers (AβOs), toxins now widely regarded as instigating neuron damage leading to Alzheimer's dementia. Toxic AβOs accumulate in AD brain and constitute long-lived alternatives to the disease-defining Aβ fibrils deposited in amyloid plaques. Key experiments using fibril-free AβO solutions demonstrated that while Aβ is essential for memory loss, the fibrillar Aβ in amyloid deposits is not the agent. The AD-like cellular pathologies induced by AβOs suggest their impact provides a unifying mechanism for AD pathogenesis, explaining why early stage disease is specific for memory and accounting for major facets of AD neuropathology. Alternative ideas for triggering mechanisms are being actively investigated. Some research favors insertion of AβOs into membrane, while other evidence supports ligand-like accumulation at particular synapses. Over a dozen candidate toxin receptors have been proposed. AβO binding triggers a redistribution of critical synaptic proteins and induces hyperactivity in metabotropic and ionotropic glutamate receptors. This leads to Ca(2+) overload and instigates major facets of AD neuropathology, including tau hyperphosphorylation, insulin resistance, oxidative stress, and synapse loss. Because different species of AβOs have been identified, a remaining question is which oligomer is the major pathogenic culprit. The possibility has been raised that more than one species plays a role. Despite some key unknowns, the clinical relevance of AβOs has been established, and new studies are beginning to point to co-morbidities such as diabetes and hypercholesterolemia as etiological factors. Because pathogenic AβOs appear early in the disease, they

  5. [Laparoscopic diagnosis and treatment of early adhesive small bowel obstruction after gynecological surgery].

    Science.gov (United States)

    Timofeev, M E; Breusenko, V G; Shapoval'iants, S G; Fedorov, E D; Larichev, S E; Kretsu, V N

    2015-01-01

    It is presented the results of diagnostic and curative laparoscopic interventions in 33 patients with acute early adhesive small bowel obstruction. Ileus developed after surgical treatment (laparotomy) of different gynecological diseases. Laparoscopy appeared as the most informative diagnostic method to confirm diagnosis in all patients, to estimate state of abdominal cavity and small pelvis organs what can help to determine method of surgical treatment. Contraindications for laparoscopic surgery were identified in 12 (36.4%) patients and conversion to laparotomy was applied in this group. Postoperative complications were diagnosed in 1 (8.3%) patient. 2 (16.6%) patients died. Early adhesive ileus was resolved laparoscopically in 21 (63.6%) of 33 patients. Recurrent acute early adhesive ileus was detected in 1 (4.7%) patient.

  6. [Gallstone disease: basic mechanisms, diagnosis and therapy].

    Science.gov (United States)

    Casper, M; Lammert, F

    2011-11-16

    Gallstone disease is one of the most common gastroenterological diseases and represents a major burden for our heath care systems. Cholesterol gallstones, responsible for about 90% of stones, represent a multifactorial disease with an important genetic component. Most gallstone-carriers remain asymptomatic and hence in general, they not need any therapy. In contrast those with symptomatic (biliary colic) or complicated gallstone disease (cholecystitis, obstructive cholangitis, biliary pancreatitis) have to be treated interdisciplinary by surgeons and endoscopists. Laparoscopic cholecystectomy represents the causal therapy to avoid recurrent symptoms as well as the therapy of choice for cholecystitis as the most common complication of gallstone disease. Bile duct stones and the associated complications (cholangitis, biliary pancreatitis) are primarily treated endoscopically.

  7. [Peptic ulcer disease etiology, diagnosis and treatment].

    Science.gov (United States)

    Bak-Romaniszyn, Leokadia; Wojtuń, Stanisław; Gil, Jerzy; Płaneta-Małecka, Izabela

    2004-01-01

    Authors in this article present etiology, clinical manifestations, diagnostic procedures and treatment of peptic ulcer disease in children and adults. Increased gastric acid output, Helicobacter pylori, NSAIDs and stress are the basic risk factors in peptic ulcer disease. H. pylori infection is a widely known risk factor in peptic ulcer disease and influences diagnostic and treatment procedures. Primary ulcer disease concerns mainly duodenum and is accompanied by H. pylori infection. Gastroscopy and Helicobacter tests are the only reliable procedures to diagnose peptic ulcer disease. Nowadays the most important aim in peptic ulcer treatment is the H. pylori eradication. Therapy with two antibiotics and a protein pomp inhibitor eradicates the bacteria, treats the ulceration and lowers the number of ulcer recurrence. In non-infected H. pylori ulcers or in a long-term treatment protein pomp inhibitors and H2-inhibitors are effective as well in gastroprotective therapy.

  8. Opportunity cost for early treatment of Chagas disease in Mexico.

    Directory of Open Access Journals (Sweden)

    Janine M Ramsey

    2014-04-01

    Full Text Available BACKGROUND: Given current neglect for Chagas disease in public health programs in Mexico, future healthcare and economic development policies will need a more robust model to analyze costs and impacts of timely clinical attention of infected populations. METHODOLOGY/PRINCIPAL FINDINGS: A Markov decision model was constructed to simulate the natural history of a Chagas disease cohort in Mexico and to project the associated short and long-term clinical outcomes and corresponding costs. The lifetime cost for a timely diagnosed and treated Chagas disease patient is US$ 10,160, while the cost for an undiagnosed individual is US$ 11,877. The cost of a diagnosed and treated case increases 24-fold from early acute to indeterminate stage. The major cost component for lifetime cost was working days lost, between 44% and 75%, depending on the program scenario for timely diagnosis and treatment. CONCLUSIONS/SIGNIFICANCE: In the long term, it is cheaper to diagnose and treat chagasic patients early, instead of doing nothing. This finding by itself argues for the need to shift current policy, in order to prioritize and attend this neglected disease for the benefit of social and economic development, which implies including treatment drugs in the national formularies. Present results are even more relevant, if one considers that timely diagnosis and treatment can arrest clinical progression and enhance a chronic patient's quality of life.

  9. Diagnosis and management of Crohn's disease.

    Science.gov (United States)

    Wilkins, Thad; Jarvis, Kathryn; Patel, Jigneshkumar

    2011-12-15

    Crohn's disease is a chronic inflammatory condition affecting the gastrointestinal tract at any point from the mouth to the rectum. Patients may experience diarrhea, abdominal pain, fever, weight loss, abdominal masses, and anemia. Extraintestinal manifestations of Crohn's disease include osteoporosis, inflammatory arthropathies, scleritis, nephrolithiasis, cholelithiasis, and erythema nodosum. Acute phase reactants, such as C-reactive protein level and erythrocyte sedimentation rate, are often increased with inflammation and may correlate with disease activity. Levels of vitamin B12, folate, albumin, prealbumin, and vitamin D can help assess nutritional status. Colonoscopy with ileoscopy, capsule endoscopy, computed tomography enterography, and small bowel follow-through are often used to diagnose Crohn's disease. Ultrasonography, computed axial tomography, scintigraphy, and magnetic resonance imaging can assess for extraintestinal manifestations or complications (e.g., abscess, perforation). Mesalamine products are often used for the medical management of mild to moderate colonic Crohn's disease. Antibiotics (e.g., metronidazole, fluoroquinolones) are often used for treatment. Patients with moderate to severe Crohn's disease are treated with corticosteroids, azathioprine, 6-mercaptopurine, or anti-tumor necrosis factor agents (e.g., infliximab, adalimumab). Severe disease may require emergent hospitalization and a multidisciplinary approach with a family physician, gastroenterologist, and surgeon.

  10. Early diagnosis of acoustic neuroma by the vestibular test

    Energy Technology Data Exchange (ETDEWEB)

    Haid, T.; Rettinger, G.; Berg, M.; Wigand, M.E.

    1981-11-01

    In a series of 390 cases with suspicion of acoustic neurinomas 78 such tumors could be diagnosed, including 12 early stage neurinomas. This relatively high detection quote of small neurinomas is due to a special diagnostical programme: Every patient with unilateral and sensoneural hearingloss, independent of vertigo anamnesis or of the result of X-rays must be further examined by a vestibular test. All 78 patients with acoustic neuroma had pathological vestibular findings. The positional test turned out to be the most sensitive examination in the early diagnosis of acoustic neuromas and yields a still higher incidence than the thermic test: 95% of the patients with a neuroma showed pathological findings in the positional test. Every patient suffering from an unidentified unilateral and sensoneural hearingloss combined with a pathological result in the positional test must be further checked by a cisternomeatography or computerized tomography using airinsufflation. Every fifth of these patients showed typical signs of an acoustic neuroma in the neuroradiological tests. 68 neuromas are operated today and verfied histologically, 10 patients are still waiting for surgical treatment.

  11. Carcinoid heart disease: Diagnosis and management.

    Science.gov (United States)

    Luis, Sushil A; Pellikka, Patricia A

    2016-01-01

    Hedinger syndrome refers to carcinoid valvular heart disease. The disease is believed to be triggered by vasoactive substances that result in valvular fibrosis. It classically occurs in patients with metastatic carcinoid and preferentially involves the right sided cardiac valves. Affected valves become thickened and retracted, exhibiting regurgitation and sometimes, stenosis. Echocardiography is recommended in patients with carcinoid syndrome and a follow up study is advisable in those who develop a murmur or other symptoms or signs of valvular heart disease. For appropriately selected patients, valve replacement surgery appears to improve outcomes.

  12. Role of serum procalcitonin level in early diagnosis of bacterial pneumonia in children, a hospital based study

    Directory of Open Access Journals (Sweden)

    Sheikh Mohd Saleem

    2016-05-01

    Conclusions: Serum PCT is an important biomarker for prompt diagnosis of bacterial infection and a sensitive indicator to distinguish bacterial from non-bacterial pneumonia. Evaluating serum PCT levels helps in early use of antibiotic therapy and prognosis of underlying disease. [Int J Res Med Sci 2016; 4(5.000: 1518-1521

  13. [Concept maps as a tool for the diagnosis of rare diseases].

    Science.gov (United States)

    Ortega Calvo, Manuel; Gómez-Chaparro Moreno, José Luis; González-Meneses López, Antonio; Guillén Enríquez, Javier; Varo Baena, Antonio; Fernández de la Mota, Elvira

    2012-01-01

    Rare diseases are a real public health problem for hospitals and also for primary care. We describe some metaphor-based diagnosis procedures, such as: "When you hear hoof beats don't always think horses, sometimes they could be zebras", or that one about the antiquarian who recognised a museum masterpiece while walking in the Rastro (Madrid). The "lightning diagnoses" by Skoda are an important historic record. T. Greenhalgh has tried to cover the gap between evidence based medicine and the intuitive diagnosis. We point out some clinical epidemiology rules in order to improve their early detection by family practitioners and paediatricians. In our opinion, the training in the diagnosis of rare diseases has to be different for primary care level and for hospital doctors. Concept maps are useful for diagnosis in primary care clinics.

  14. Deficit of pursuit ocular movements in early Alzheimer's disease

    Institute of Scientific and Technical Information of China (English)

    Francesco Cordici; Pietro Lanzafame; Silvia Marino; Alessandro Celona; Lilla Bonanno; Annalisa Baglieri; Alessia Bramanti; Placido Bramanti

    2010-01-01

    Previous studies have demonstrated that advanced Alzheimer's disease(AD)patients have deficiency of eye movements.However,there have been no reports on eye movement in the early stages of AD.The aim of this study was to evaluate pursuit ocular movements(POM)provided by a vision-based non-intrusive eye tracker in patients with early AD.POM values were significantly lower in AD patients than in normal controls(P < 0.01).In AD patients,POM values were not closely correlated with the Mini-Mental State Examination scores(P = 0.3).There was no significant difference in POM values among patients treated with or without anticholinesterase therapy.We used a vision-based method,for non-intrusive eye tracking,which can be proposed as a possible tool for supporting the diagnosis of early AD.

  15. Occlusive extracranial cerebrovascular disease: diagnosis and ...

    African Journals Online (AJOL)

    artery which then divides into the posterior cerebral arteries that supply the occipital ... In a review focusing on the causes of ... is a consequence of stenosis and occlusion involving all four ... as ischaemic heart disease, hypertension, diabetes ...

  16. Postoperative intussusception in pediatric abdominal malignancies: early diagnosis and management

    Institute of Scientific and Technical Information of China (English)

    Maged M. Elshafiey; Gehad T. Meselhy; Amal Refaat; Alaa A. Younes

    2012-01-01

    Objective: The aim of this study was to review the incidence of postoperative intussusception (POI) in our patients with pediatric abdominal malignancies and the end result of management of these cases. Methods: From November2007 till the end of December 2011, a total of 538 patients with different abdominal malignancies were operated upon by laparotomies in our hospital. Reoperations were required in 12 patients for post operative intestinal obstruction developed in the 1st postoperative month. Review of the identified cases focused on patient's characteristics, the primary tumor type, the primary surgical procedure, clinical and imaging features of the intussusceptions, timing and findings at the 2nd laparotomy and the end result of subsequent interventions. Results: Early post operative intestinal obstruction (within 1 month) developed in 12 patients of whom 8 patients had POI. Five patients had adhesive intestinal obstruction (one patient developed POI then adhesive obstruction). The median duration between the primary surgery and the onset of intestinal obstruction symptoms was 5 days (range 4-12 days) in the POI group and 24 days (range 10-30 days) in the adhesion group. Abdominal CT was done in all cases and it could properly diagnose POI and detect its site in the POI group while in the adhesion group it showed evidence of complete obstruction. Plain radiograph failed to detect signs of intestinal obstruction in 3 cases (two in the POI group and one in the adhesion group). In POI group simple reduction was done in 7 cases while resection anastmosis was done in 1 case due to gangrene of the ileocecal region. Adhesiolysis was done in the 5 cases of intestinal adhesion group.Conclusion: Early POI in pediatric abdominal cancer is a rare complication; however it should be kept in mind with high index of suspicion. Early diagnosis and intervention is essential for successful management. Abdominal CT is very helpful as it can detect the level and possible cause of

  17. Problem Oriented Differential Diagnosis of Tropical Diseases

    Science.gov (United States)

    1989-09-01

    maize . The disease responds pooriy to therapy; therefore, prevention is recommended by removing the offending staple food from the diet or providing...skin inoculation ; may develop metastatic chronic abscesses. Meningococcal disease: petechiae and purpura common; may be complicated by vasculitis...distributed at site of skin inoculation : skin abscesses may develop gradually. 214 Myiasis: horse, cattle, rodent, rabbit, or human botfly, or tumbu fly may

  18. Images in Health Surveillance: Tickborne Disease Vectors and Lyme Disease Clinical Diagnosis

    Science.gov (United States)

    2012-05-01

    and Lyme Disease Clinical Diagnosis 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) 5d. PROJECT NUMBER 5e. TASK...have varying geographic distributions. In the U.S. tickborne diseases include Lyme disease ,Rocky Mountain spotted fever (RMSF) ehrlichiosis, anaplasmosis...Vol. 19 No. 5 May 2012Page 14 Images in Health Surveillance: Tickborne Disease Vectors and Lyme Disease Clinical Diagnosis military members who

  19. Analysis of bone metabolism during early stage and clinical benefits of early intervention with alendronate in patients with systemic rheumatic diseases treated with high-dose glucocorticoid: Early DIagnosis and Treatment of OsteopoRosis in Japan (EDITOR-J) study.

    Science.gov (United States)

    Tanaka, Yoshiya; Mori, Hiroko; Aoki, Takatoshi; Atsumi, Tatsuya; Kawahito, Yutaka; Nakayama, Hisanori; Tohma, Shigeto; Yamanishi, Yuji; Hasegawa, Hitoshi; Tanimura, Kazuhide; Negoro, Nobuo; Ueki, Yukitaka; Kawakami, Atsushi; Eguchi, Katsumi; Saito, Kazuyoshi; Okada, Yosuke

    2016-11-01

    We conducted a prospective multicenter study to assess early changes in the dynamics of bone metabolism in patients with systemic connective tissue diseases following commencement of high-dose glucocorticoid therapy and the benefits of early treatment with bisphosphonate and vitamin D analogue. The subjects of this randomized controlled trial were 106 female patients with systemic connective tissue diseases treated for the first time with glucocorticoids at doses equivalent to prednisolone ≥20 mg/day (age ≥ 18 years). One week after initiation of glucocorticoid therapy, patients were randomly assigned to treatment with alfacalcidol at 1 μg/day (n = 33), alendronate 35 mg/week (n = 37), and alfacalcidol plus alendronate (n = 36). The primary endpoints were changes in lumbar spine bone density at 6 months of treatment and the frequency of bone fracture at 12 months. Commencement of glucocorticoid therapy was associated with a rapid and marked bone resorption within 1 week. The combination of alfacalcidol and alendronate administered after the first week of glucocorticoid therapy halted the pathological processes affecting bone metabolism, increased bone density, and reduced the incidence of bone fracture over a period of 12 months. Taken together, the use of the combination of alfacalcidol and alendronate improved bone metabolism, increased bone density, and significantly reduced the incidence of bone fracture during 1-year high-dose glucocorticoid therapy.

  20. Early diagnosis of teeth erosion using polarized laser speckle imaging

    Science.gov (United States)

    Nader, Christelle Abou; Pellen, Fabrice; Loutfi, Hadi; Mansour, Rassoul; Jeune, Bernard Le; Brun, Guy Le; Abboud, Marie

    2016-07-01

    Dental erosion starts with a chemical attack on dental tissue causing tooth demineralization, altering the tooth structure and making it more sensitive to mechanical erosion. Medical diagnosis of dental erosion is commonly achieved through a visual inspection by the dentist during dental checkups and is therefore highly dependent on the operator's experience. The detection of this disease at preliminary stages is important since, once the damage is done, cares become more complicated. We investigate the difference in light-scattering properties between healthy and eroded teeth. A change in light-scattering properties is observed and a transition from volume to surface backscattering is detected by means of polarized laser speckle imaging as teeth undergo acid etching, suggesting an increase in enamel surface roughness.

  1. The Diagnostic Value of Skin Disease Diagnosis Expert System.

    Science.gov (United States)

    Jeddi, Fatemeh Rangraz; Arabfard, Masoud; Arabkermany, Zahra; Gilasi, Hamidreza

    2016-02-01

    Evaluation is a necessary measure to ensure the effectiveness and efficiency of all systems, including expert systems. The aim of this study was to determine the diagnostic value of expert system for diagnosis of complex skin diseases. A case-control study was conducted in 2015 to determine the diagnostic value of an expert system. The study population included patients who were referred to Razi Specialized Hospital, affiliated to Tehran University of Medical Sciences. The control group was selected from patients without the selected skin diseases. Data collection tool was a checklist of clinical signs of diseases including pemphigus vulgaris, lichen planus, basal cell carcinoma, melanoma, and scabies. The sample size formula estimated 400 patients with skin diseases selected by experts and 200 patients without the selected skin diseases. Patient selection was undertaken with randomized stratified sampling and their sign and symptoms were logged into the system. Physician's diagnosis was determined as the gold standard and was compared with the diagnosis of expert system by SPSS software version 16 and STATA. Kappa statistics, indicators of sensitivity, specificity, accuracy and confidence intervals were calculated for each disease. An accuracy of 90% was considered appropriate. Comparing the results of expert system and physician's diagnosis at the evaluation stage showed an accuracy of 97.1%, sensitivity of 97.5% and specificity of 96.5% The Kappa test indicated a high agreement of 93.6%. The expert system can diagnose complex skin diseases. Development of such systems is recommended to identify all skin diseases.

  2. [X-ray diagnosis of retropatellar diseases (author's transl)].

    Science.gov (United States)

    Wahlers, B

    1979-08-01

    The article reports on a comprehensive, stepwise diagnosis in diseases of the knee joints. This includes a description of the indication, the technique of taking x-ray films, and x-ray findings, as well as arthrography of the femoropatellar joint in retropatellar diseases such as chondropathia patellae, osteochondrosis dissecans, traumas of the knee joints and arthrosis deformans.

  3. Use of multidetector CT in the diagnosis of Moyamoya disease

    Energy Technology Data Exchange (ETDEWEB)

    Gonzales-de Larrazabal, C.; Bhoey, H.K.; Lim, M.C.L. [Singapore Heart, Stroke and Cancer Centre, Ngee Ann City (Singapore)

    2005-07-01

    This article presents an adult case of moyamoya disease, diagnosed with CT angiography, and discusses the value of using a multidetector CT scan in the diagnosis of the disease. The patient's previous MRA and conventional angiography are used for comparison. (orig.)

  4. Contested boundaries: psychiatry, disease, and diagnosis.

    Science.gov (United States)

    Rosenberg, Charles E

    2006-01-01

    Since the 19th century, we have come to think of disease in terms of specific entities--entities defined and legitimated in terms of characteristic somatic mechanisms. Since the last third of that century, we have expanded would-be disease categories to include an ever-broader variety of emotional pain, idiosyncrasy, and culturally unsettling behaviors. Psychiatry has been the residuary legatee of these developments, developments that have always been contested at the ever-shifting boundary between disease and deviance, feeling and symptom, the random and the determined, the stigmatized and the value-free. Even in our era of reductionist hopes, psychopharmaceutical practice, and corporate strategies, the legitimacy of many putative disease categories will remain contested. The use of the specific disease entity model will always be a reductionist means to achieve necessarily holistic ends, both in terms of cultural norms and the needs of suffering individuals. Bureaucratic rigidities and stakeholder conflicts structure and intensify such boundary conflicts, as do the interests and activism of an interested lay public.

  5. Early psychosocial intervention in Alzheimer's disease

    DEFF Research Database (Denmark)

    Søgaard, Rikke; Sørensen, Jan; Waldorff, Frans B

    2014-01-01

    OBJECTIVE: To assess the cost utility of early psychosocial intervention for patients with Alzheimer's disease and their primary caregivers. DESIGN: Cost utility evaluation alongside a multicentre, randomised controlled trial with 3 years of follow-up. SETTING: Primary care and memory clinics...

  6. Early Onset Charcot-Marie-Tooth Disease

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2005-06-01

    Full Text Available The clinical signs and genetic analysis of early-onset Charcot-Marie-Tooth disease (CMT in a 2-year-old boy and members of his family are reported from the Academic Medical Center, Amsterdam, and Sophia Children’s Hospital, Rotterdam, the Netherlands.

  7. [Treatment of early stage Hodgkin disease

    DEFF Research Database (Denmark)

    Specht, Lena; Carde, P.; Mauch, P.

    1993-01-01

    In early stage Hodgkin's disease the optimal choice of treatment is still an unresolved issue. Twenty-two randomized trials of radiotherapy alone versus radiotherapy plus combination chemotherapy have been carried out world-wide. The preliminary results of a global meta-analysis of these trials...

  8. Neurological Manifestations, Diagnosis, and Treatment of Celiac Disease: A Comprehensive Review

    Directory of Open Access Journals (Sweden)

    Shahriar Nikpour

    2012-01-01

    Full Text Available Celiac disease or gluten sensitivity may initially present asone or more neurological signs and/or symptoms. On the other hand, it may be associated with or complicated by neurological manifestations. Neurological presentations are rare in children but as many as 36% of adult patients present with neurological changes. With severe malnutrition after progression of celiac disease, different vitamin deficiencies may develop. Such problems can in turn overlap with previous neurological abnormalities including ataxia,epilepsy, neuropathy, dementia, and cognitive disorders. Inthis study, we aimed to review the neurological aspects of celiac disease. Early diagnosis and treatment could prevent related disability in patients with celiac disease.

  9. Approach to Early Diagnosis of Chronic Obstructive Pulmonary Disease Complicated with Tuberculosis in the Elderly %老年慢性阻塞性肺疾病合并肺结核早期诊断的探讨

    Institute of Scientific and Technical Information of China (English)

    张喜霞; 吴琦; 吴茜

    2012-01-01

    of TB, moreover, the positive rates of PPD, ADA and TB-Ab were not high, and hence vigilance to early find tuberculosis for the elderly with COPD in the clinical diagnosis should be heightened.%目的 分析老年慢性阻塞性肺疾病(COPD)合并肺结核(TB)的临床特点,探讨其早期诊断线索.方法 回顾性分析53例年龄≥65岁的老年COPD合并TB患者(A组)的临床特点,并与63例单纯老年COPD患者(B组)的危险因素、临床症状、实验室检查及影像学表现进行比较.结果 A组患者以COPD症状为主,咳嗽、咳痰、气促阳性率分别为94.34%、94.34%、92.45%,而乏力、盗汗阳性率分别为26.42%、15.09%,与B组比较,差异无统计学意义(P>0.05).A组发热发生率为69.81%,B组为22.22%,A组高于B组,差异有统计学意义(P<0.01),但两组发热特征均以中高度发热为主,午后低热少.A组消瘦、贫血、低蛋白、红细胞沉降率(ESR)阳性率分别为33.96%、47.17%、66.04%、77.36%,B组分别为7.94%、9.52%、39.68%、20.63%,A组高于B组,差异均有统计学意义(P<0.01).A组结核菌素试验(PPD)阳性率为20.75%,血清腺苷脱氨酶(ADA)阳性率为24.53%,结核抗体(TB-Ab)阳性率为28.30%,痰结核菌涂片阳性率为56.60%,痰TB培养阳性为62.26%.影像学分布以非典型部位为主,两组纤维条索影、大片实变、胸腔积液、肺气肿发生率的差异无统计学意义(P>0.05),A组斑片云絮结节等渗出改变、空洞、钙化、胸膜病变发生率高于B组,差异有统计学意义(P<0.01).结论 老年COPD合并TB以COPD症状为主,典型结核症状少,且PPD、ADA、TB-Ab阳性率不高,临床诊断时应提高老年COPD合并TB的警惕性.

  10. Altered Fractional Anisotropy in Early Huntington's Disease

    Directory of Open Access Journals (Sweden)

    Silky Singh

    2013-02-01

    Full Text Available Huntington's disease (HD is a dominantly inherited neurodegenerative disease best known for chorea. The disorder includes numerous other clinical features including mood disorder, eye movement abnormalities, cognitive disturbance, pendular knee reflexes, motor impersistence, and postural instability. We describe a mild case of HD early in the disease course with depression and subtle neurological manifestations. In addition, we review MRI and diffusion tensor imaging features in this patient. The bicaudate ratio, a measure of caudate atrophy, was increased. Fractional anisotropy values of the bilateral caudate and putamen were increased, signifying neurodegeneration of these structures in HD.

  11. FUMEPOC: Early detection of chronic obstructive pulmonary disease in smokers

    Directory of Open Access Journals (Sweden)

    Fernández Antonio

    2011-05-01

    Full Text Available Abstract Background Currently is not feasible using conventional spirometry as a screening method in Primary Care especially among smoking population to detect chronic obstructive pulmonary disease in early stages. Therefore, the FUMEPOC study protocol intends to analyze the validity and reliability of Vitalograph COPD-6 spirometer as simpler tool to aid screening and diagnosis of this disease in early stages in primary care surgery. Methods / Design Study design: An observational, descriptive study of diagnostic tests, undertaken in Primary Care and Pneumology Outpatient Care Centre at San Juan Hospital and Elda Hospital. All smokers attending the primary care surgery and consent to participate in the study will undergo a test with Vitalograph COPD-6 spirometer. Subsequently, a conventional spirometry will be performed in the hospital and the results will be compared with those of the Vitalograph COPD-6 test. Discussion It is difficult to use the spirometry as screening for early diagnose test in real conditions of primary care clinical practice. The use of a simpler tool, Vitalograph COPD-6 spirometer, can help in the early diagnose and therefore, it could improve the clinical management of the disease.

  12. Early diagnosis of diabetic retinopathy in primary care

    Science.gov (United States)

    Jimenez-Baez, Maria Valeria; Barcenas-Contreras, Rodolfo; Morales Montoya, Carlos; Espinosa-Garcia, Laura Fatima

    2015-01-01

    Objective: To evaluate the impact of a strategy for early detection of diabetic retinopathy in patients with type 2 diabetes mellitus (DMT2) in Quintana Roo, México. Methods: Study transversal, observational, prospective, analytical, eight primary care units from Mexican Social Security Institute in the northern delegation of the State of Quintana Roo, Mexico were included. A program for early detection of diabetic retinopathy (DR) in adult 376,169 was designed. Were diagnosed 683 cases of type 2 diabetes, in 105 patients randomized was conducted to direct ophthalmoscopy were subjected to a secondary hospital were assigned. Will determine the degree of diabetic retinopathy and macular edema was performed. Results: In population were 55.2% female, mean age 48+11.1 years, 23.8 % had some degree of DR, 28.0% with mild non- proliferative diabetic retinopathy 48.0 % moderate 16.0% and severe and 8.0% showed proliferative diabetic retinopathy. Those over age 30 are 2.8 times more risk of developing DR, OR= 2.8; 95%CI: 0.42-18.0, and OR= 1.7; 95%CI: 1.02-2.95 women. Conclusions: The implementation of programs aimed at the early detection of debilitating conditions such as diabetic retinopathy health impact beneficiaries, effective links between primary care systems and provide second level positive health outcomes for patient diseases. PMID:26019380

  13. Early diagnosis of diabetic retinopathy in primary care

    Directory of Open Access Journals (Sweden)

    María Valeria Jiménez-Báez

    2015-03-01

    Full Text Available Objective:To evaluate the impact of a strategy for early detection of diabetic retinopathy in patients with type 2 diabetes mellitus (DMT2 in Quintana Roo, México.Methods:Study transversal, observational, prospective, analytical, eight primary care units from Mexican Social Security Institute in the northern delegation of the State of Quintana Roo, Mexico were included. A program for early detection of diabetic retinopathy (DR in adult 376,169 was designed. Were diagnosed 683 cases of type 2 diabetes, in 105 patients randomized was conducted to direct ophthalmoscopy were subjected to a secondary hospital were assigned. Will determine the degree of diabetic retinopathy and macular edema was performed.Results:In population were 55.2% female, mean age 48+11.1 years, 23.8 % had some degree of DR, 28.0% with mild non- proliferative diabetic retinopathy 48.0 % moderate 16.0% and severe and 8.0% showed proliferative diabetic retinopathy. Those over age 30 are 2.8 times more risk of developing DR, OR= 2.8; 95%CI: 0.42-18.0, and OR= 1.7; 95%CI: 1.02-2.95 women.Conclusions:The implementation of programs aimed at the early detection of debilitating conditions such as diabetic retinopathy health impact beneficiaries, effective links between primary care systems and provide second level positive health outcomes for patient diseases.

  14. Dairy calf pneumonia: Effective treatment depends on early and accurate diagnosis

    Directory of Open Access Journals (Sweden)

    Panousis Nikolaos

    2009-01-01

    Full Text Available Dairy calf pneumonia is one of the most economically important diseases of calves. A delayed diagnosis could result endemic herd problem, prolonged use of antibiotics, high recurrence rate, pulmonary abscessation and ear infections. The key for effective control is the early detection of pneumonia and the accurate diagnosis of the etiologic factor. For the early detection, a respiratory disease score was assigned based on rectal temperature, character of nasal discharge, eye discharge or ear appearance, and presence of a cough. Each clinical sign has a point scale from 0 (normal to 4 (severe. The respiratory disease score is the sum of points from the 4 categories of clinical signs, with increasing values representing progressive severity. The scoring system results in a minimum score of 0 and a maximum score of 12. Calves with score 5 or higher, having at least 2 clinical signs of respiratory disease, are considered sick and have to be treated. For the accurate diagnosis of the etiological agent the best tool in a live calf is bronchoalveolar lavage (BAL fluid collection. Sampling of severely affected animals should be avoided. New acute cases are ideal. BAL is performed in sedated calves using a sterilized, flexible catheter with a 5-cc balloon cuff. The fresh BAL fluid sample is processed within 2 hours of collection or refrigerated until analysis. Part of the sample is used for microbiology and the remaining is submitted for cytology. BAL fluid that yields homogenous (>106 CFU/ml bacterial or positive Mycoplasma bovis culture is considered abnormal. A disproportionate lowering of macrophages (39% provides evidence of an inflammatory response with or without a positive culture. The ideal antibiotic selection would be based on the antibiotic susceptibility pattern of lung pathogens after BAL fluid culture.

  15. A multiple classifier system for early melanoma diagnosis.

    Science.gov (United States)

    Sboner, Andrea; Eccher, Claudio; Blanzieri, Enrico; Bauer, Paolo; Cristofolini, Mario; Zumiani, Giuseppe; Forti, Stefano

    2003-01-01

    Melanoma is the most dangerous skin cancer and early diagnosis is the key factor in its successful treatment. Well-trained dermatologists reach a diagnosis via visual inspection, and reach sensitivity and specificity levels of about 80%. Several computerised diagnostic systems were reported in the literature using different classification algorithms. In this paper, we will illustrate a novel approach by which a suitable combination of different classifiers is used in order to improve the diagnostic performances of single classifiers. We used three different kinds of classifiers, namely linear discriminant analysis (LDA), k-nearest neighbour (k-NN) and a decision tree, the inputs of which are 38 geometric and colorimetric features automatically extracted from digital images of skin lesions. Multiple classifiers were generated by combining the diagnostic outputs of single classifiers with appropriate voting schemata. This approach was evaluated on a set of 152 digital skin images. We compared the performances of multiple classifiers (2- and 3-classifier groups) between them and with respect to single ones (1-classifier group). We further compared the classifiers' performances with those of eight dermatologists. Classifiers' performances were measured in terms of distance from the ideal classifier. Compared with 1- and 2-classifier groups, performances of 3-classifier systems were significantly higher (Pclassifier groups (P=0.352). While the dermatologists group showed a level of performances significantly higher than the 1-classifier systems (Pclassifier groups and the dermatologists groups, indicating comparable performances. This work suggests that a suitable combination of different kinds of classifiers can improve the performances of an automatic diagnostic system.

  16. Hepatic Encephalopathy: Early Diagnosis in Pediatric Patients With Cirrhosis

    Directory of Open Access Journals (Sweden)

    Naghi DARA*

    2014-01-01

    Full Text Available How to Cite This Article: Dara N, Sayyari AA, Imanzadeh F. Hepatic Encephalopathy: Early Diagnosis in Pediatric Patients With Cirrhosis. Iran J Child Neurol. 2014 Winter; 8(1:1-11.ObjectiveAs acute liver failure (ALF and chronic liver disease (cirrhosis continue to increase in prevalence, we will see more cases of hepatic encephalopathy.Primary care physician are often the first to suspect it, since they are familiar with the patient’s usual physical and mental status. This serious complication typically occurs in patients with severe comorbidities and needs multidisciplinary evaluation and care. Hepatic encephalopathy should be considered in any patient with acute liver failure and cirrhosis who presents with neuropsychiatric manifestations, decrease level of consciousness (coma, change of personality, intellectualand behavioral deterioration, speech and motor dysfunction.Every cirrhotic patient may be at risk; potential precipitating factors should be addressed in regular clinic visits. The encephalopathy of liver disease may be prominent, or can be present in subtle forms, such as decline of school performance, emotional outbursts, or depression.“Subtle form” of hepatic encephalopathy may not be obvious on clinical examination, but can be detected by neurophysiologic and neuropsychiatric testing.References:Ferenci P, Lockwood A, Mullen K, Tarter R, Weissenborn K, Blei AT. Hepatic encephalopathy definition, nomenclature, diagnosis, and quantification: final report of the working party at the 11th World Congresses of Gastroenterology, Vienna, 1998.Hepatology 2002;35:716-21.BleiAT,Cordoba J. Hepatic encephalopathy. AmJ Gastroenterol 2001;96:1968–76.Vaquero J,Chung C, Cahill ME, BleiAT. Pathogenesis of hepatic encephalopathy in acute liver failure. Semin Liver Dis 2003;23:259-69.Bajaj JS, Wade JB, Sanyal AJ. Spectrum of neurocognitive impairment in cirrhosis: Implications for the assessment of hepatic encephalopathy

  17. [Diagnosis and therapy of axial spondyloarthritis including ankylosing spondylitis (Bechterew's disease)].

    Science.gov (United States)

    Poddubnyy, D; Sieper, J

    2012-07-01

    The term axial spondyloarthritis covers patients with established structural changes visible on x-ray in sacroiliac joints and/or in the spine (classical ankylosing spondylitis) but also patients with non-radiographic axial spondyloarthritis in whom early inflammatory signs of the disease can only be visualized with magnetic resonance imaging (MRI). The MRI technique plays an important role in the diagnosis of this disease and an early diagnosis is normally based on a combination of clinical, laboratory and imaging parameters. Only non-steroidal anti-inflammatory drugs and TNF-α blockers are effective in the treatment of axial spondyloarthritis. Patients with short disease duration and elevated acute phase reactant levels demonstrate best therapy response and, therefore, should be closely followed-up and consistently treated.

  18. Computer-Aided Characterization and Diagnosis of Diffuse Liver Diseases Based on Ultrasound Imaging: A Review.

    Science.gov (United States)

    Bharti, Puja; Mittal, Deepti; Ananthasivan, Rupa

    2016-04-19

    Diffuse liver diseases, such as hepatitis, fatty liver, and cirrhosis, are becoming a leading cause of fatality and disability all over the world. Early detection and diagnosis of these diseases is extremely important to save lives and improve effectiveness of treatment. Ultrasound imaging, a noninvasive diagnostic technique, is the most commonly used modality for examining liver abnormalities. However, the accuracy of ultrasound-based diagnosis depends highly on expertise of radiologists. Computer-aided diagnosis systems based on ultrasound imaging assist in fast diagnosis, provide a reliable "second opinion" for experts, and act as an effective tool to measure response of treatment on patients undergoing clinical trials. In this review, we first describe appearance of liver abnormalities in ultrasound images and state the practical issues encountered in characterization of diffuse liver diseases that can be addressed by software algorithms. We then discuss computer-aided diagnosis in general with features and classifiers relevant to diffuse liver diseases. In later sections of this paper, we review the published studies and describe the key findings of those studies. A concise tabular summary comparing image database, features extraction, feature selection, and classification algorithms presented in the published studies is also exhibited. Finally, we conclude with a summary of key findings and directions for further improvements in the areas of accuracy and objectiveness of computer-aided diagnosis. © The Author(s) 2016.

  19. Diagnosis and treatment of fistulising Crohn's disease

    DEFF Research Database (Denmark)

    Hvas, Christian Lodberg; Dahlerup, Jens Frederik; Jacobsen, Bent Ascanius

    2011-01-01

    A fistula is defined as a pathological connection between the intestine and an inner (bladder or other intestine) or outer (vagina or skin) epithelial surface. Fistulas are discovered in up to 25% of all Crohn's disease patients during long-term follow-up examinations. Most are perianal fistulas...

  20. Diagnosis and treatment of cystic lung disease

    Science.gov (United States)

    Park, Sanghoon; Lee, Eun Joo

    2017-01-01

    Cystic lung disease (CLD) is a group of lung disorders characterized by the presence of multiple cysts, defined as air-filled lucencies or low-attenuating areas, bordered by a thin wall (usually Hogg-Dube syndrome, lymphocytic interstitial pneumonia/follicular bronchiolitis, and amyloidosis. PMID:28264540

  1. Radiographic signs and diagnosis of dental disease.

    Science.gov (United States)

    Bellows, J

    1993-08-01

    Dental radiographs are critical for the complete assessment and treatment of dental diseases. Dental radiography is commonly used to evaluate congenital dental defects, periodontal disease, orthodontic manipulations, oral tumors, endodontic treatments, oral trauma, and any situation where an abnormality is suspected. Although standard radiographic equipment and film can be used to produce dental radiographs, dental X-ray equipment and film provide superior quality images and greater convenience of animal patient positioning. An understanding of normal dental radiographic anatomy is important when interpreting dental radiographs. Stage III periodontitis is the earliest stage of periodontal disease at which radiographic abnormalities become apparent. Bone loss associated with periodontal disease can be classified as either horizontal or vertical. Periapical radiolucencies can represent granulomas, cysts, or abscesses, whereas periapical radiodensities may represent sclerotic bone or condensing osteitis. Lytic lesions of the bone of the jaw often represent oral neoplasms. Neoplasms also can displace or disrupt teeth in the dental arch. Resorptive lesions can be external or internal and appear as radiolucent areas involving the external surface of the root or the pulp cavity, respectively. Feline dental resorptive lesions, also known as odontoclastic resorptions, are a specific form of dental resorptive lesions unique to cats.

  2. Koi herpesvirus disease (khvd) surveillance and diagnosis

    DEFF Research Database (Denmark)

    Way, K.; Bergmann, S. M.; Engelsma, Marc

    According to the European Council Directive 2006/88/EC, additional legislation should be implemented describing sampling and diagnostic procedures for the diseases listed in Annex IV Part 2 of the Directive. The sampling plans and the diagnostic methods for the detection and confirmation of VHS...

  3. Current Guidelines, Common Clinical Pitfalls, and Future Directions for Laboratory Diagnosis of Lyme Disease, United States

    Science.gov (United States)

    Moore, Andrew; Nelson, Christina; Molins, Claudia; Mead, Paul

    2016-01-01

    In the United States, Lyme disease is caused by Borrelia burgdorferi and transmitted to humans by blacklegged ticks. Patients with an erythema migrans lesion and epidemiologic risk can receive a diagnosis without laboratory testing. For all other patients, laboratory testing is necessary to confirm the diagnosis, but proper interpretation depends on symptoms and timing of illness. The recommended laboratory test in the United States is 2-tiered serologic analysis consisting of an enzyme-linked immunoassay or immunofluorescence assay, followed by reflexive immunoblotting. Sensitivity of 2-tiered testing is low (30%–40%) during early infection while the antibody response is developing (window period). For disseminated Lyme disease, sensitivity is 70%–100%. Specificity is high (>95%) during all stages of disease. Use of other diagnostic tests for Lyme disease is limited. We review the rationale behind current US testing guidelines, appropriate use and interpretation of tests, and recent developments in Lyme disease diagnostics. PMID:27314832

  4. [Gaucher disease--guidelines for diagnosis and management of adult patients].

    Science.gov (United States)

    Merkler, Marijan; Simić, Iveta; Pećin, Ivan; Muacević-Katanec, Diana; Sucur, Nediljko; Reiner, Zeljko

    2014-01-01

    Gaucher disease is an autosomal recessive disorder, characterized by decreased levels of the lysosomal enzyme glucocerebrosidase. This deficiency results in a decreased breakdown of this glycosphingolipid glucocerebroside, which accumulates in the lysosomes of the monocyte-macrophage system. It is the most common form of sphingolipidosis. Clinically, the principle signs of Gaucher's disease are hepatosplenomegaly, bone involvement, hematological changes and CNS involvement. The diagnosis of Gaucher disease has to be confirmed by the measurement of the activity of the enzyme glucocerebrosidase in leukocytes or fibroblasts and genetic testing. An effective therapy for Gaucher disease has now been available for more than 10 years. It consists of life-long intravenous replacement of the deficient enzyme--glucocerebrosidase. If enzyme replacement therapy is started early enough, it leads to significant improvement in patient's general condition and quality of life. The aim of this document is to provide to the Croatian medical audience the guidelines for diagnosis and management of adult patients with Gaucher disease. These guidelines are produced by specialists who have long lasting experience with patients with rare metabolic diseases working in the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb which is the Referral Center for Rare and Metabolic diseases of the Ministry of Health, Republic of Croatia. They were endorsed by the Croatian Society for Rare Diseases, Croatian Medical Association. These are the first guidelines published in Croatia on diagnosis, treatment and follow-up of Gaucher disease.

  5. Patients' diagnosis decisions in Alzheimer's disease: the influence of family factors.

    Science.gov (United States)

    Rapp, Thomas

    2014-10-01

    It is surprising to observe that the number of patients receiving a late diagnosis for Alzheimer's disease (AD) remains high even in countries promoting early diagnosis campaigns. We explore the impact of family history and family support on the risks of receiving a delayed diagnosis. We use French data of 1131 patients diagnosed between 1991 and 2005. We find that the presence of AD history in the family increased the risks of receiving a delayed diagnosis. This was true especially when AD history involved brothers, sisters and other relatives (uncles or cousins). The presence of an informal caregiver at the time of the first warning signs reduced the risks of receiving a late diagnosis, regardless of the informal caregiver concerned (spouse, son, daughter etc.). We identify several opportunities for early detection campaigns. Families with history of disease should be targeted. Campaigns should also target isolated patients, who do not benefit from informal care. Our results underline the importance of improving the diagnosis access for old patients and for men. Copyright © 2014 Elsevier Ltd. All rights reserved.

  6. Informativeness of Early Huntington Disease Signs about Gene Status.

    Science.gov (United States)

    Oster, Emily; Eberly, Shirley W; Dorsey, E Ray; Kayson-Rubin, Elise; Oakes, David; Shoulson, Ira

    2015-01-01

    The cohort-level risk of Huntington disease (HD) is related to the age and symptom level of the cohort, but this relationship has not been made precise. To predict the evolving likelihood of carrying the Huntington disease (HD) gene for at-risk adults using age and sign level. Using data from adults with early signs and symptoms of HD linked to information on genetic status, we use Bayes' theorem to calculate the probability that an undiagnosed individual of a certain age and sign level has an expanded CAG repeat. Both age and sign levels have substantial influence on the likelihood of HD onset, and the probability of eventual diagnosis changes as those at risk age and exhibit (or fail to exhibit) symptoms. For example, our data suggest that in a cohort of individuals age 26 with a Unified Huntington's Disease Rating Scale (UHDRS) motor score of 7-10 70% of them will carry the HD mutation. For individuals age 56, the same motor score suggests only a 40% chance of carrying the mutation. Early motor signs of HD, overall and the chorea subscore, were highly predictive of disease onset at any age. However, body mass index (BMI) and cognitive performance scores were not as highly predictive. These results suggest that if researchers or clinicians are looking for early clues of HD, it may be more foretelling to look at motor rather than cognitive signs. Application of similar approaches could be used with other adult-onset genetic conditions.

  7. PRENATAL DIAGNOSIS AND SCREENING OF GENETIC ABNORMALITIES IN EARLY PREGNANCY

    Directory of Open Access Journals (Sweden)

    Jyothi Kiran Kohli

    2016-11-01

    Full Text Available BACKGROUND Genetic diseases are one of the major causes of hospital admissions due to disability and mortality particularly among children (1:5 children of hospital admission either partially/completely as distribution of genetic diseases is not related to socioeconomic background, which implies that developing world has a large number of genetic diseases largely left uncared for, i.e. overall incidence of foetal/neonatal loss due to genetic/genetic environmental causes are as follows: 1:50 newborns have major congenital abnormality, 1:100 have a unifactorial disorder, 1:200 have a major chromosomal abnormality before birth. Diagnosis of chromosomal anomalies in foetus is one of the most important challenges in modern perinatology as invasive or noninvasive methods. The aim of the study is to review on cytogenetic evaluation of CVS obtained (transcervically during first trimester of pregnancy by direct karyotyping of tissue. MATERIALS AND METHODS This study was conducted in 2001 in Department of Anatomy along with Obstetrics and Gynaecology Department, LNJP Hospital. 37 healthy cases with 6-12 weeks of gestational age coming for medical termination of pregnancy were included in the study. After written informed consent for procedure, ultrasound-guided transcervical chorionic villus sampling was done (Brambati’s method. Tissue procured was then processed for direct karyotyping and studied. Metaphase spreads were photographed and karyotypes prepared and studied. RESULTS Out of 37 pregnant females, 30 samples were successfully prepared and processed by Direct method out of which 23 were normal female (46, XX and 7 were normal male (46, XY. No normal anomaly was detected. Best biopsies were obtained with 8-12 weeks gestation. G Banding could not be performed as chromosome obtained were found to be resistant to banding. CONCLUSIONS To summarise chromosome preparations obtained from CVS by Direct method has advantage of providing sufficient number

  8. [Developmental origins of cardiovascular disease and early intervention windows].

    Science.gov (United States)

    Mi, Jie

    2016-01-01

    Cardiovascular diseases are the major threat to human health and underlie almost half of all deaths in China. Even more serious, obesity and cardiometabolic risk factors have emerged to be prevalent in children and adolescents of some affluent regions. As scientific knowledge emerges on the role of nutritional factors and exposures to environmental risk factors in the developmental origins of health and disease, evidence suggests that it is imperative to create and implement early effective prevention strategies, including optimisation of nutrition at first 1 000 days in life course and reduction of risk factors of obesity exposures during whole childhood, to suppress the rising trend of cardiovascular disease, otherwise, the future costs of diagnosis and treatment are likely to be unaffordable.

  9. The early clinical features of dengue in adults: challenges for early clinical diagnosis.

    Directory of Open Access Journals (Sweden)

    Jenny G H Low

    Full Text Available BACKGROUND: The emergence of dengue throughout the tropical world is affecting an increasing proportion of adult cases. The clinical features of dengue in different age groups have not been well examined, especially in the context of early clinical diagnosis. METHODOLOGY/PRINCIPAL FINDINGS: We structured a prospective study of adults (≥ 18 years of age presenting with acute febrile illness within 72 hours from illness onset upon informed consent. Patients were followed up over a 3-4 week period to determine the clinical outcome. A total of 2,129 adults were enrolled in the study, of which 250 (11.7% had dengue. Differences in the rates of dengue-associated symptoms resulted in high sensitivities when the WHO 1997 or 2009 classification schemes for probable dengue fever were applied to the cohort. However, when the cases were stratified into age groups, fewer older adults reported symptoms such as myalgia, arthralgia, retro-orbital pain and mucosal bleeding, resulting in reduced sensitivity of the WHO classification schemes. On the other hand, the risks of severe dengue and hospitalization were not diminished in older adults, indicating that this group of patients can benefit from early diagnosis, especially when an antiviral drug becomes available. Our data also suggests that older adults who present with fever and leukopenia should be tested for dengue, even in the absence of other symptoms. CONCLUSION: Early clinical diagnosis based on previously defined symptoms that are associated with dengue, even when used in the schematics of both the WHO 1997 and 2009 classifications, is difficult in older adults.

  10. Invasive versus non-invasive diagnosis of renal bone disease.

    Science.gov (United States)

    Fournier, A; Oprisiu, R; Said, S; Sechet, A; Ghazali, A; Marié, A; el Esper, I; Brazier, M; Achard, J M; Morinière, P

    1997-07-01

    At present, bone histomorphometry remains the gold standard for the diagnosis of the various types of renal bone disease. In the search for a non-invasive method of diagnosis, biochemical serum markers of bone remodelling, in addition to serum intact parathyroid hormone and aluminium determinations, have been proposed as the most reliable tools and are at present widely used in clinical practice. Their respective diagnostic values, as separate items and in combined analysis, are thoroughly discussed in the present review.

  11. 缺血修饰清蛋白在冠心病早期诊断中的应用研究%Exploratory development of ischemic modified albumin in early diagnosis of coronary artery disease

    Institute of Scientific and Technical Information of China (English)

    周义文; 黄志勇; 刘银河; 姬尚义; 陈曼; 王毅; 聂志勇; 钟岸

    2008-01-01

    目的 评价缺血修饰清蛋白(IMA)检测对冠脉综合征(ACS)早期诊断的应用价值.方法 连续监测急性胸痛患者发病后2、6、12、24 h的血清IMA、肌酸激酶同工酶(CK-MB)、肌钙蛋白I(cTnI)水平,并与健康人群对照,观察其变化规律.用ACB法测定IMA含量,免疫比浊法测定cTnI含量,免疫抑制酶动力学法测定CK-MB活性.结果 IMA在稳定型心绞痛患者组无明显升高(P>0.05);在不稳定型心绞痛组可升高,发病后2~12 h内IMA水平与健康对照组比较有明显升高(P0.05),but much elevated in unstable angina pectoris(UAP)group within 2-12 h after onset compared with that in healthy control group(P<0.05).IMA,CK-MB and cTnI were all increased in different degree in acute myocardial infarction group,and the positive rates were respectively 85%,71%and 55% at 2 h after acute myocardial infarction onset;and the positive rate of combined detection of above three indices accounted for 92%.The positive rates were respectively 96%,87%and 81%at 6 h after acute myocardialinfarction onset ;and the positive rate of combined deteetion of above three indices accounted for 99%.The ROC curve of sensitivity and specificity showed that the AUC value of IMA,CK-MB and cTnI were respectively 0.821,0.692,and 0.632 at 2 h after acute myoeardialinfarction onset,and 0.984.0.861 and 0.816 at 6 h.Conclusion The serum level of IMA increases when unstable angina pectoris occurs.The sensitivity of combined detection of IMA,CK-MB and cTnI is superior to that of single detection in diagnosis of acute myocardial infarction.Combined detection is of clinical value in the early diagnosis of acute myocardial infaretion.

  12. Diagnosis of Restless Leg Syndrome (Willis-Ekbom Disease).

    Science.gov (United States)

    Becker, Philip M

    2015-09-01

    Restless leg syndrome, or Willis-Ekbom disease, is a neurosensorimotor disorder with significant impact that is diagnosed through 5 clinical criteria. Adherence to 5 criteria and a thorough physical examination are often sufficient for diagnosis. Associated features prove helpful in young children or the cognitively impaired. Polysomnography is not routinely required unless the patient has other sleep-related symptoms. The finding of periodic leg movements in sleep only suggests, instead of confirms, the diagnosis. It is important to arrive at appropriate diagnosis because the prevalence is in the millions and treatment significantly improves sleep quality and daytime function. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Early Oscillation Detection for DC/DC Converter Fault Diagnosis

    Science.gov (United States)

    Wang, Bright L.

    2011-01-01

    The electrical power system of a spacecraft plays a very critical role for space mission success. Such a modern power system may contain numerous hybrid DC/DC converters both inside the power system electronics (PSE) units and onboard most of the flight electronics modules. One of the faulty conditions for DC/DC converter that poses serious threats to mission safety is the random occurrence of oscillation related to inherent instability characteristics of the DC/DC converters and design deficiency of the power systems. To ensure the highest reliability of the power system, oscillations in any form shall be promptly detected during part level testing, system integration tests, flight health monitoring, and on-board fault diagnosis. The popular gain/phase margin analysis method is capable of predicting stability levels of DC/DC converters, but it is limited only to verification of designs and to part-level testing on some of the models. This method has to inject noise signals into the control loop circuitry as required, thus, interrupts the DC/DC converter's normal operation and increases risks of degrading and damaging the flight unit. A novel technique to detect oscillations at early stage for flight hybrid DC/DC converters was developed.

  14. Sonographic markers for early diagnosis of fetal malformations

    Institute of Scientific and Technical Information of China (English)

    Maria; Daniela; Renna; Paola; Pisani; Francesco; Conversano; Emanuele; Perrone; Ernesto; Casciaro; Gian; Carlo; Di; Renzo; Marco; Di; Paola; Antonio; Perrone; Sergio; Casciaro

    2013-01-01

    Fetal malformations are very frequent in industrialized countries.Although advanced maternal age may affect pregnancy outcome adversely,80%-90%of fetal malformations occur in the absence of a specific risk factor for parents.The only effective approach for prenatal screening is currently represented by an ultrasound scan.However,ultrasound methods present two important limitations:the substantial absence of quantitative parameters and the dependence on the sonographer experience.In recent years,together with the improvement in transducer technology,quantitative and objective sonographic markers highly predictive of fetal malformations have been developed.These markers can be detected at early gestation(11-14 wk)and generally are not pathological in themselves but have an increased incidence in abnormal fetuses.Thus,prenatal ultrasonography during the second trimester of gestation provides a"genetic sonogram",including,for instance,nuchal translucency,short humeral length,echogenic bowel,echogenic intracardiac focus and choroid plexus cyst,that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%.Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies.In the future,sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis(amniocentesis,etc.).

  15. The primary care practitioner and the diagnosis of occupational diseases

    Directory of Open Access Journals (Sweden)

    Lange John H

    2010-07-01

    Full Text Available Abstract Background Rather than a clinical diagnosis, in occupational medicine the critical point is the etiological diagnosis. The first is useful for the therapy, the latter for preventive, epidemiological, regulatory, and insurance measures. Discussion As with causality criteria which are employed in population studies, the answering of four easy questions allows a Primary Care Practitioner to establish a causal link between the work activities and a potential disease that a specific patient may present. After determining the clinical diagnosis and the actual pathology of an occupational disease, the identity, duration, and intensity of the exposure have to be detected for establishing a close-causal effect. The judgment on the occupational origin of the disease requires an integrated approach using multiple sources of information, and goes beyond the clinical diagnosis. This may require consultation with a specialist in occupational medicine. Summary It is important that the Primary Care Practitioner takes an accurate medical history since this may be the only chance a patient has to have their occupational disease recognised and properly detected/identified. Proper identification of the causative nature of such diseases is important for establishing preventive measures in eliminating and controlling future cases against exposure, epidemiological reporting and studies (particularly in identifying the rates of disease, regulatory reporting requirements and insurance compensation.

  16. Human Disease Diagnosis Using a Fuzzy Expert System

    CERN Document Server

    Hasan, Mir Anamul; Chowdhury, Ahsan Raja

    2010-01-01

    Human disease diagnosis is a complicated process and requires high level of expertise. Any attempt of developing a web-based expert system dealing with human disease diagnosis has to overcome various difficulties. This paper describes a project work aiming to develop a web-based fuzzy expert system for diagnosing human diseases. Now a days fuzzy systems are being used successfully in an increasing number of application areas; they use linguistic rules to describe systems. This research project focuses on the research and development of a web-based clinical tool designed to improve the quality of the exchange of health information between health care professionals and patients. Practitioners can also use this web-based tool to corroborate diagnosis. The proposed system is experimented on various scenarios in order to evaluate it's performance. In all the cases, proposed system exhibits satisfactory results.

  17. Oncology of Reptiles: Diseases, Diagnosis, and Treatment.

    Science.gov (United States)

    Christman, Jane; Devau, Michael; Wilson-Robles, Heather; Hoppes, Sharman; Rech, Raquel; Russell, Karen E; Heatley, J Jill

    2017-01-01

    Based on necropsy review, neoplasia in reptiles has a comparable frequency to that of mammals and birds. Reptile neoplasia is now more frequently diagnosed in clinical practice based on increased use of advanced diagnostic techniques and improvements in reptilian husbandry allowing greater longevity of these species. This article reviews the current literature on neoplasia in reptiles, and focuses on advanced diagnostics and therapeutic options for reptilian patientssuffering neoplastic disease. Although most applied clinical reptile oncology is translated from dog and cat oncology, considerations specific to reptilian patients commonly encountered in clinical practice (turtles, tortoises, snakes, and lizards) are presented.

  18. Clinical Analysis Of Early Diagnosis and Treetment Of 33 Children With incomplete Kawasaki Disease%小儿不完全性川崎病33例早期诊治分析

    Institute of Scientific and Technical Information of China (English)

    王士杰; 李晓春; 程贤高

    2014-01-01

    目的:总结小儿不完全性川崎病临床特点,提高本病早期诊断和治疗水平。方法:回顾分析33例不完全性川崎病患儿的临床和实验室检查资料。结果:患儿均有持续高烧症状,患儿的临床症状均不足4项诊断标准要求,实验室检测值和心脏彩超检查结果均有不同程度的异常改变,丙种球蛋白加阿司匹林治疗有显著疗效。结论:小儿不典型性川崎病特征性临床表现较少,对有持续高热,川崎病典型性临床表现不显著的患儿,应结合实验室检测指标及心脏彩超结果尽早确诊并行免疫球蛋白治疗,以改善患儿预后。%Objective:To analyze the clinical data of incomplete, Kawasaki Disease in children.Methods:The clinical and laboratory data of 33 children with incomplete Kawasaki Disease were retrospectively analyzed. Results:All children had persistent high fever, clinical symptoms of diagnostic standards in children were less than four, The data of echocardiography and laboratory test were abnormal changes in varying degrees, Intravenous immunoglobulin and Aspirin are effective for treatment of incomplete Kawasaki. Conclusion:Children with incomplete Kawasaki dis-ease characteristic clinical manifestation is less, have a fever,the typical clinical features of Kawasaki disease was not significant in children,should be combined with laboratory test index and cardiac ultrasound results,diagnosed early parallel intravenous immunoglobulin treatment to improve prognosis of incomplete Kawasaki Disease.

  19. Diagnosis of Alzheimer’s Disease with [18F]PET in Mild and Asymptomatic Stages

    Directory of Open Access Journals (Sweden)

    Alexander Drzezga

    2009-01-01

    Full Text Available With longer life expectancy, dementia based on the age-related Alzheimers’ disease (AD has turned into one of the most prevalent disorders of older age, representing a serious medical and socio-economic issue. There has been growing interest in early diagnosis of this disease, particularly regarding the initiation of new treatment strategies ahead of the onset of irreversible neuronal damage. It is accepted that the pathologic changes underlying AD appear in the brain years to decades before the symptomatic stages. Consequently, clinical measures of cognitive impairment, as used for definition of dementia, will not allow early diagnosis of AD-pathology in the mild or asymptomatic stages. Thus, a need for complementary sensitive biomarkers is apparent. Brain imaging markers are among the most promising candidates for this diagnostic challenge. Particularly, [18F]FDG PET as a marker of regional neuronal function has been demonstrated to represent a most sensitive and specific method for early identification of AD-pathology and thus for prediction of dementia of the Alzheimer type (DAT, even in the mild and asymptomatic stages. Currently, systematic data of comparable quality are hardly available for any other imaging procedure. The purpose of this article is to describe the typical findings of [18F]FDG PET in different stages of AD and to demonstrate its value for early and reliable diagnosis of Alzheimer's disease, particularly ahead of the stage of dementia of the Alzheimer’s type.

  20. Diagnosis of Alzheimer's disease with [18F]PET in mild and asymptomatic stages.

    Science.gov (United States)

    Drzezga, Alexander

    2009-01-01

    With longer life expectancy, dementia based on the age-related Alzheimers' disease (AD) has turned into one of the most prevalent disorders of older age, representing a serious medical and socio-economic issue. There has been growing interest in early diagnosis of this disease, particularly regarding the initiation of new treatment strategies ahead of the onset of irreversible neuronal damage. It is accepted that the pathologic changes underlying AD appear in the brain years to decades before the symptomatic stages. Consequently, clinical measures of cognitive impairment, as used for definition of dementia, will not allow early diagnosis of AD-pathology in the mild or asymptomatic stages. Thus, a need for complementary sensitive biomarkers is apparent. Brain imaging markers are among the most promising candidates for this diagnostic challenge. Particularly, [18F]FDG PET as a marker of regional neuronal function has been demonstrated to represent a most sensitive and specific method for early identification of AD-pathology and thus for prediction of dementia of the Alzheimer type (DAT), even in the mild and asymptomatic stages. Currently, systematic data of comparable quality are hardly available for any other imaging procedure. The purpose of this article is to describe the typical findings of [18F]FDG PET in different stages of AD and to demonstrate its value for early and reliable diagnosis of Alzheimer's disease, particularly ahead of the stage of dementia of the Alzheimer's type.

  1. Disease phenotype at diagnosis in pediatric Crohn's disease

    DEFF Research Database (Denmark)

    de Bie, Charlotte I; Paerregaard, Anders; Kolacek, Sanja

    2013-01-01

    It has been speculated that pediatric Crohn's disease (CD) is a distinct disease entity, with probably different disease subtypes. We therefore aimed to accurately phenotype newly diagnosed pediatric CD by using the pediatric modification of the Montreal classification, the Paris classification....

  2. Diagnosis of Alzheimer's disease in Brazil: Supplementary exams

    Directory of Open Access Journals (Sweden)

    Paulo Caramelli

    Full Text Available Abstract This article presents a review of the recommendations on supplementary exams employed for the clinical diagnosis of Alzheimer's disease (AD in Brazil published in 2005. A systematic assessment of the consensus reached in other countries, and of articles on AD diagnosis in Brazil available on the PUBMED and LILACS medical databases, was carried out. Recommended laboratory exams included complete blood count, serum creatinine, thyroid stimulating hormone (TSH, albumin, hepatic enzymes, Vitamin B12, folic acid, calcium, serological reactions for syphilis and serology for HIV in patients aged younger than 60 years with atypical clinical signs or suggestive symptoms. Structural neuroimaging, computed tomography or - preferably - magnetic resonance exams, are indicated for diagnostic investigation of dementia syndrome to rule out secondary etiologies. Functional neuroimaging exams (SPECT and PET, when available, increase diagnostic reliability and assist in the differential diagnosis of other types of dementia. The cerebrospinal fluid exam is indicated in cases of pre-senile onset dementia with atypical clinical presentation or course, for communicant hydrocephaly, and suspected inflammatory, infectious or prion disease of the central nervous system. Routine electroencephalograms aid the differential diagnosis of dementia syndrome with other conditions which impair cognitive functioning. Genotyping of apolipoprotein E or other susceptibility polymorphisms is not recommended for diagnostic purposes or for assessing the risk of developing the disease. Biomarkers related to the molecular alterations in AD are largely limited to use exclusively in research protocols, but when available can contribute to improving the accuracy of diagnosis of the disease.

  3. Hemorrhagic shock and encephalopathy syndrome – the markers for an early HSES diagnosis

    Directory of Open Access Journals (Sweden)

    Miyaichi Toshinori

    2008-10-01

    Full Text Available Abstract Background The hemorrhagic shock and encephalopathy syndrome (HSES is a devastating disease that affects young children. The outcomes of HSES patients are often fatal or manifesting severe neurological sequelae. We reviewed the markers for an early diagnosis of HSES. Methods We examined the clinical, biological and radiological findings of 8 patients (4 months to 9 years old who met the HSES criteria. Results Although cerebral edema, disseminated intravascular coagulopathy (DIC, and multiple organ failure were seen in all 8 cases during their clinical courses, brain computed tomography (CT scans showed normal or only slight edema in 5 patients upon admission. All 8 patients had normal platelet counts, and none were in shock. However, they all had severe metabolic acidosis, which persisted even after 3 hours (median base excess (BE, -7.6 mmol/L. And at 6 hours after admission (BE, -5.7 mmol/L they required mechanical ventilation. Within 12 hours after admission, fluid resuscitation and vasopressor infusion for hypotension was required. Seven of the patients had elevated liver enzymes and creatine kinase (CK upon admission. Twenty-four hours after admission, all 8 patients needed vasopressor infusion to maintain blood pressure. Conclusion CT scan, platelet count, hemoglobin level and renal function upon admission are not useful for an early diagnosis of HSES. However, the elevated liver enzymes and CK upon admission, hypotension in the early stage after admission with refractory acid-base disturbance to fluid resuscitation and vasopressor infusion are useful markers for an early HSES diagnosis and helpful to indicate starting intensive neurological treatment.

  4. Diagnosis and treatment of gallstone disease.

    Science.gov (United States)

    Lee, Janice Y J; Keane, Margaret G; Pereira, Stephen

    2015-06-01

    Gallstones form when there is an imbalance in the composition of bile resulting in precipitation of one or more of its components. Between 37 and 86% of gallstones are cholesterol-rich stones, 2-27% are pigment stones and 4-16% are mixed. Cholesterol-rich gallstones are more common in Europe and North America. This has been attributed to obesity and diets containing a high proportion of refined carbohydrates and fat. Low-calorie diets and rapid weight loss are also associated with cholesterol-rich gallstones. Gallstone disease increases with age. Women have a higher prevalence of gallstones than men, which is attributed to exposure to oestrogen and progesterone. Of those with gallstones, around 1 to 4% will develop symptoms annually. Most patients (> 80%) will remain asymptomatic throughout their lifetime and the likelihood of developing symptoms diminishes with time. Liver function tests and an abdominal ultrasound should be offered to patients with symptoms suggestive of gallstone disease (e.g. abdominal pain, jaundice, fever). They should also be considered in patients with less typical but chronic abdominal or gastrointestinal symptoms. In patients with acute pancreatitis and evidence of ongoing bile duct obstruction and/or cholangitis, endoscopic retrograde cholangio-pancreatography and biliary sphincterotomy is recommended within 24-72 hours of the onset of symptoms. Patients with acute cholecystitis should be referred for laparoscopic cholecystectomy.

  5. Small angle diffraction imaging for disease diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Wilkinson, S.J. [Department of Materials and Medical Sciences, Cranfield University, Shrivenham, Swindon, Wiltshire SN6 8LA (United Kingdom)]. E-mail: s.j.wilkinson@dl.ac.uk; Rogers, K.D. [Department of Materials and Medical Sciences, Cranfield University, Shrivenham, Swindon, Wiltshire SN6 8LA (United Kingdom); Hall, C.J. [Darebury Research Laboratory, Keckwick Lane, Warrington, Cheshire, WA4 4AD (United Kingdom); Lewis, R.A. [Monash University, Melbourne, Victoria (Australia); Round, A. [Darebury Research Laboratory, Keckwick Lane, Warrington, Cheshire, WA4 4AD (United Kingdom); Pinder, S.E. [Nottingham City Hospital, Nottingham (United Kingdom); Boggis, C. [Withington Hospital, Manchester (United Kingdom); Hufton, A. [Christie Hospital, Manchester (United Kingdom)

    2005-08-11

    Current work in small angle X-ray scattering (SAXS) as a means of determining the disease state of tissue biopsy samples is showing encouraging results. Statistical analyses of SAXS patterns have identified components of the data which correlate well with the presence or absence of cancer in breast tissue. A study has now been started which attempts to create images of macroscopic scale samples using this information. One way of building up a two-dimensional map of this SAXS information on such a sample would be to raster scan a small X-ray beam. However, the time taken to perform such a scan is likely to make this technique impractical, especially if it would be considered for use in a clinical environment. Some initial work using a wide, thin X-ray beam, has shown that it is possible to deconvolve a model SAXS pattern from the smeared out SAXS pattern and is verified using slightly modified methods. Three distinct tissue types were successfully distinguished and imaged from a single scan of the beam. We are continuing this work by building a more sophisticated phantom and using a higher quality SAXS facility on the SRS in the UK. The results of the first steps towards disease specific imaging are presented. The possibility of making tomographic SAXS images is also being pursued. Techniques for data analysis on SAXS from blocks of tissues are discussed.

  6. Small angle diffraction imaging for disease diagnosis

    Science.gov (United States)

    Wilkinson, S. J.; Rogers, K. D.; Hall, C. J.; Lewis, R. A.; Round, A.; Pinder, S. E.; Boggis, C.; Hufton, A.

    2005-08-01

    Current work in small angle X-ray scattering (SAXS) as a means of determining the disease state of tissue biopsy samples is showing encouraging results. Statistical analyses of SAXS patterns have identified components of the data which correlate well with the presence or absence of cancer in breast tissue. A study has now been started which attempts to create images of macroscopic scale samples using this information. One way of building up a two-dimensional map of this SAXS information on such a sample would be to raster scan a small X-ray beam. However, the time taken to perform such a scan is likely to make this technique impractical, especially if it would be considered for use in a clinical environment. Some initial work using a wide, thin X-ray beam, has shown that it is possible to deconvolve a model SAXS pattern from the smeared out SAXS pattern and is verified using slightly modified methods. Three distinct tissue types were successfully distinguished and imaged from a single scan of the beam. We are continuing this work by building a more sophisticated phantom and using a higher quality SAXS facility on the SRS in the UK. The results of the first steps towards disease specific imaging are presented. The possibility of making tomographic SAXS images is also being pursued. Techniques for data analysis on SAXS from blocks of tissues are discussed.

  7. New strategies for diagnosis and management of celiac disease.

    Science.gov (United States)

    Westerberg, Dyanne P; Gill, James M; Dave, Bhavin; DiPrinzio, Marie J; Quisel, Anna; Foy, Andrew

    2006-03-01

    Celiac disease is a gastrointestinal disorder characterized by inflammation, leading to injury to the mucosal lining of the small intestine. The inflammation occurs when gliadin, a protein found in such gluten-containing foods as wheat, rye, and barley, is ingested by genetically susceptible individuals. The mucosal damage and subsequent malabsorption of nutrients leads to various complications. Researchers estimate that more than 2 million people in the United States have celiac disease-a prevalence that is greater than was previously believed. Approximately 60,000 Americans are diagnosed annually with celiac disease. Until recently, diagnosis has been complicated by the fact that the indicators of celiac disease are nonspecific. However, because of the development of new, easy-to-administer serology tests, diagnosis has become much less complicated. After conducting a review of the literature, the authors recommend a serologic testing sequence for diagnosis of celiac disease and urge that adults and children with an assortment of symptoms be tested for this disease. Common signs and symptoms of celiac disease include anemia, arthralgia, fatigue, infertility, neuropathy, and weight loss, in addition to such gastrointestinal symptomatology as abdominal pain, anorexia, bloating, constipation, and diarrhea. The only treatment for patients with celiac disease remains a gluten-free diet.

  8. Diagnosis of moyamoya disease: international standard and regional differences.

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    Fujimura, Miki; Tominaga, Teiji

    2015-01-01

    Moyamoya disease is a chronic, occlusive cerebrovascular disease with unknown etiology characterized by bilateral steno-occlusive changes at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. These diagnostic criteria of the moyamoya disease, stated by the Research Committee on Spontaneous Occlusion of the Circle of Willis (moyamoya disease) in Japan, are well established and generally accepted as the definition of this rare entity. On the contrary to the diagnosis of definitive moyamoya disease, there is some confusion in the terminology and understanding of quasi-moyamoya disease; moyamoya disease in association with various disease entities, such as atherosclerosis, autoimmune diseases, Down syndrome, etc. Although the clinical management is not affected by these semantic distinctions, terminological confusion may interfere with the international collaboration of the clinical investigation of these rare conditions. In this article, we sought to review the international standard and regional differences in the diagnosis of moyamoya disease and quasi-moyamoya disease.

  9. DNA Aptamers in the Diagnosis and Treatment of Human Diseases

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    Qinchang Zhu

    2015-11-01

    Full Text Available Aptamers have a promising role in the field of life science and have been extensively researched for application as analytical tools, therapeutic agents and as vehicles for targeted drug delivery. Compared with RNA aptamers, DNA aptamers have inherent advantages in stability and facility of generation and synthesis. To better understand the specific potential of DNA aptamers, an overview of the progress in the generation and application of DNA aptamers in human disease diagnosis and therapy are presented in this review. Special attention is given to researches that are relatively close to practical application. DNA aptamers are expected to have great potential in the diagnosis and treatment of human diseases.

  10. Diagnosis of Ebola Virus Disease: Progress and Prospects

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    Mingjuan Yang

    2015-12-01

    Full Text Available Ebola virus disease (EVD represents one of the deadliest diseases in the world, with a fatality rate of over 70% and absence of effective vaccine and treatment. Rapid and specific diagnosis of EVD is essential for isolation, treatment of patients, and prevention of outbreak spread. Although many assays for EVD diagnosis have been reported, there is still an urgent requirement for practical assays for use in resource-limited areas, like Africa. Here we summarize the progresses of EVD diagnostic techniques.

  11. Future perspective for diagnosis in autoimmune diseases

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    Luis E. C. Andrade

    2009-09-01

    Full Text Available Human beings have taken successive approaches for the understanding and management of diseases. Initially brewed in supernatural concepts and mystical procedures, a vigorous scientific approach has emerged on the grounds of fundamental disciplines such as anatomy, microbiology, biochemistry, physiology, immunology, pathology, and pharmacology. The resulting integrated knowledge contributed to the current classification of diseases and the way Medicine is carried out today. Despite considerable progress, this approach is rather insufficient when it comes to systemic inflammatory conditions, such as systemic lupus erythematosus, that covers clinical conditions ranging from mild pauci-symptomatic diseases to rapidly fatal conditions. The treatment for such conditions is often insufficient and novel approaches are needed for further progress in these areas of Medicine. A recent breakthrough has been achieved with respect to chronic auto-inflammatory syndromes, in which molecular dissection of underlying gene defects has provided directions for target-oriented therapy. Such approach may be amenable to application in systemic auto-immune diseases with the comprehension that such conditions may be the consequence of interaction of specific environmental stimuli and an array of several and interconnected gene polymorphisms. On the bulk of this transformation, the application of principles of pharmacogenetics may lead the way towards a progressively stronger personalized Medicine.O homem tem buscado sucessivas abordagens para o entendimento e manejo das doenças. Partindo de conceitos sobrenaturais e procedimentos místicos, uma abordagem científica vigorosa vicejou com base em disciplinas fundamentais como a anatomia, microbiologia, bioquímica, fisiologia, imunologia, patologia e farmacologia. O conhecimento integrado resultante contribuiu para a atual classificação das doenças e a formacom que a Medicina atual é praticada. Apesar deste consider

  12. Neuroendocrine tumors (carcinoids of the stomach and intestines - early diagnosis and minimally invasive endoscopic procedures

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    Kuryk O.G.

    2014-03-01

    Full Text Available Background. Neuroendocrine tumors of the stomach and intestines are rare diseases. Increasing incidence and complexity of diagnosis of these diseases cause acuteness of the problem. Objective. To evaluate the effectiveness of morphological examination of endoscopic biopsy material for diagnostics of neuroendocrine tumors and for evaluation of completeness of minimally invasive endoscopic surgical interventions (endoscopic mucosal resection and endoscopic submucosal dissection at neuroendocrine tumors. Methods. On the basis of Medical center "Oberig" in 2009 - 2013 in eight cases neuroendocrine tumors were diagnosed: 2 (25 % in the stomach, 2 (25% – in the duodenum, 2 (25% - in the small intestine, 1 (12.5 % - in the ascending colon, 1 (12.5% - in the rectum. Neuroendocrine tumors of stomach and ileum were removed by endoscopic mucosal resection, duodenal bulb and rectum neuroendocrine tumors – by endoscopic submucosal dissection, papillary duodenum, colon and jejunum neuroendocrine tumors – by surgical resection. Results. It was shown, that morphological evaluation of endoscopic mucosal biopsies is effective way to diagnose the neuroendocrine tumors. Conclusion. Endoscopic mucosal resection and endoscopic submucosal dissection allows to get advanced material for morphological diagnosis of neuroendocrine tumors and an adequate method of their removing Citation: Kuryk OG, Yakovenko VO, Bazdyrev VV, Bodnar LV. [Neuroendocrine tumors (carcinoids of the stomach and intestines - early diagnosis and minimally invasive endoscopic procedures]. Morphologia. 2014;8(1:58-64. Ukrainian.

  13. Clinical symptoms and laboratory findings supporting early diagnosis of Crimean-Congo hemorrhagic fever in Iran.

    Science.gov (United States)

    Mostafavi, Ehsan; Pourhossein, Behzad; Chinikar, Sadegh

    2014-07-01

    Crimean-Congo hemorrhagic fever (CCHF) is a zoonotic disease, which is usually transmitted to humans by tick bites or contact with blood or other infected tissues of livestock. Patients suffering from CCHF demonstrate an extensive spectrum of clinical symptoms. As it can take considerable time from suspecting the disease in hospital until reaching a definitive diagnosis in the laboratory, understanding the clinical symptoms and laboratory findings of CCHF patients is of paramount importance for clinicians. The data were collected from patients who were referred to the Laboratory of Arboviruses and Viral Hemorrhagic Fevers at the Pasteur institute of Iran with a primary diagnosis of CCHF between 1999 and 2012 and were assessed by molecular and serologic tests. Referred patients were divided into two groups: patients with a CCHF positive result and patients with a CCHF negative result. The laboratory and clinical findings of these two groups were then compared. Two-thousand five hundred thirty-six probable cases of CCHF were referred to the laboratory, of which 871 cases (34.3%) were confirmed to be CCHF. Contact with infected humans and animals increased the CCHF infection risk (P important role in patient survival and the application of the findings of this study can prove helpful as a key for early diagnosis.

  14. Diagnosis and treatment of fistulising Crohn's disease.

    Science.gov (United States)

    Hvas, Christian Lodberg; Dahlerup, Jens Frederik; Jacobsen, Bent Ascanius; Ljungmann, Ken; Qvist, Niels; Staun, Michael; Tøttrup, Anders

    2011-10-01

    A fistula is defined as a pathological connection between the intestine and an inner (bladder or other intestine) or outer (vagina or skin) epithelial surface. Fistulas are discovered in up to 25% of all Crohn's disease patients during long-term follow-up examinations. Most are perianal fistulas, and these may be classified as simple or complex. The initial investigation of perianal fistulas includes imaging (MRI of the pelvis and rectum), examination under anaesthesia (EUA) with digital imaging, endoscopy, probing and anal ultrasound. Non-perianal fistulas require contrast imaging and/or CT/MRI for complete anatomical definition. Any abscess should be drained, and the disease extent throughout the entire gastrointestinal tract should be evaluated. Treatment goals for perianal fistulas include reduced fistula secretion or none, evaluated by clinical examination; the absence of abscesses; and patient satisfaction. MR imaging is required to demonstrate definitive fistula closure. Fistulotomy is considered for simple perianal fistulas. In complex perianal fistulas, antibiotics and azathioprine or 6-mercaptopurine, which are often combined with a loose seton, constitute the first-line medical therapy. In cases with persistent secretion, infliximab at 5 mg/kg is given at weeks 0, 2, and 6 and subsequently every 8 weeks. Adalimumab may improve fistula response in both infliximab-naïve patients and following infliximab treatment failure. Local therapy with fibrin glue or fistula plugs is rarely effective. Definitive surgical closure of perianal fistulas using an advancement flap may be attempted, but this procedure is associated with a high risk of relapse. Colostomy and proctectomy are the ultimate surgical treatment options for fistulas. Intestinal resection is almost always needed for the closure of symptomatic non-perianal fistulas.

  15. Risk factors and early diagnosis of cerebral venous sinus occlusion secondary to traumatic brain injury

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    Jun Li

    2015-01-01

    Conclusions: Paying close attention to the past medical history of DVT, skull fracture, and the imaging finding of an epidural hematoma that crosses the sinus are necessary for the early diagnosis of CVSO. CTV and MRV help in making an early diagnosis of CVSO.

  16. EARLY COMPLICATIONS IN BARIATRIC SURGERY: incidence, diagnosis and treatment

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    Marco Aurelio SANTO

    2013-03-01

    Full Text Available Context Bariatric surgery has proven to be the most effective method of treating severe obesity. Nevertheless, the acceptance of bariatric surgery is still questioned. The surgical complications observed in the early postoperative period following surgeries performed to treat severe obesity are similar to those associated with other major surgeries of the gastrointestinal tract. However, given the more frequent occurrence of medical comorbidities, these patients require special attention in the early postoperative follow-up. Early diagnosis and appropriate treatment of these complications are directly associated with a greater probability of control. Method The medical records of 538 morbidly obese patients who underwent surgical treatment (Roux-en-Y gastric bypass surgery were reviewed. Ninety-three (17.2% patients were male and 445 (82.8% were female. The ages of the patients ranged from 18 to 70 years (average = 46, and their body mass indices ranged from 34.6 to 77 kg/m2. Results Early complications occurred in 9.6% and were distributed as follows: 2.6% presented bleeding, intestinal obstruction occurred in 1.1%, peritoneal infections occurred in 3.2%, and 2.2% developed abdominal wall infections that required hospitalization. Three (0.5% patients experienced pulmonary thromboembolism. The mortality rate was 0,55%. Conclusion The incidence of early complications was low. The diagnosis of these complications was mostly clinical, based on the presence of signs and symptoms. The value of the clinical signs and early treatment, specially in cases of sepsis, were essential to the favorable surgical outcome. The mortality was mainly related to thromboembolism and advanced age, over 65 years. Contexto A cirurgia bariátrica tem mostrado ser o método mais eficaz de tratamento da obesidade grave. No entanto, sua aceitação como terapia padrão-ouro ainda é questionada. As complicações cirúrgicas observadas no início do período p

  17. Polymerase Chain Reaction: An Important Tool for Early Diagnosis of Leptospirosis Cases

    Science.gov (United States)

    Mullan, Summaiya

    2016-01-01

    Introduction Various diagnostic methods like Microscopic Agglutination Test (MAT), IgM ELISA, Isolation of Leptospira from the clinical specimen, Rapid leptocheck tests etc., are available for diagnosis of leptospirosis. Polymerase Chain Reaction (PCR) is used for diagnosis of various diseases of infectious origin including leptospirosis but there is paucity of data about comparison of PCR with other available method of diagnosis of leptospirosis. Aim The aim of the study was to detect the leptospiral DNA by PCR method and to compare the results of PCR with other available diagnostic methods used for diagnosis of suspected leptospirosis cases in acute phase of illness. Materials and Methods A total of 207 blood samples were obtained from suspected patients of leptospirosis admitted in New Civil Hospital, a tertiary care hospital in South Gujarat, during the period of July 2008 to November 2008. These blood samples were subjected to Rapid leptocheck, IgM ELISA, MAT test to detect (IgG or IgM) antibody level, Leptospira culture and PCR. Results In early phase of the disease, Rapid leptocheck test gave 44% detection, but along with PCR seropositivity reached upto 71%. Detection rate by IgM ELISA was 59% which increased to 80% with PCR. By MAT seropositivity was 57% but combined seropositivity of MAT with PCR was 78%. Sensitivity and specificity of PCR as compared to MAT (Gold standard) was 52% and 79% respectively. Leptospira was not growing in culture. Conclusion In present study, PCR picked up to 50% of cases which were negative by other serological tests so these finding suggest that PCR should be used routinely in acute phase of disease.

  18. Importance of early diagnosis of pancreaticobiliary maljunction without biliary dilatation

    Institute of Scientific and Technical Information of China (English)

    Kensuke Takuma; Terumi Kamisawa; Taku Tabata; Seiichi Hara; Sawako Kuruma; Yoshihiko Inaba; Masanao Kurata

    2012-01-01

    AIM:To clarify the strategy for early diagnosis of pancreaticobiliary maljunction (PBM) without biliary dilatation and to pathologically examine gallbladder before cancer develops.METHODS:The anatomy of the union of the pancreatic and bile ducts was assessed by using endoscopic retrograde cholangiopancreatography (ERCP).Patients with a long common channel in which communication between the pancreatic and bile ducts was maintained even during sphincter contraction were diagnosed as having PBM.Of these,patients in which the maximal diameter of the bile duct was less than 10 mm were diagnosed with PBM without biliary dilatation.The process of diagnosing 54 patients with PBM without biliary dilatation was retrospectively investigated.Histopathological analysis of resected gallbladder specimens from 8 patients with PBM without biliary dilatation or cancer was conducted.RESULTS:Thirty-six PBM patients without biliary dilatation were diagnosed with gallbladder cancer after showing clinical symptoms such as abdominal or back pain (n =16) or jaundice (n =12).Radical surgery for gallbladder cancer was only possible in 11 patients (31%)and only 4 patients (11%) survived for 5 years.Eight patients were suspected as having PBM without biliary dilatation from the finding of gallbladder wall thickening on ultrasound and the diagnosis was confirmed by ERCP and/or magnetic resonance cholangiopancreatography (MRCP).The median age of these 8 patients was younger by a decade than PBM patients with gallbladder cancer.All 8 patients underwent prophylactic cholecystectomy and bile duct cancer has not occurred.Wall thickness and mucosal height of the 8 resected gallbladders were significantly greater than controls,and hyperplastic changes,hypertrophic muscular layer,subserosal fibrosis,and adenomyomatosis were detected in 7 (88%),5 (63%),7 (88%) and 5 (63%) patients,respectively.Ki-67 labeling index was high and K-ras mutation was detected in 3 of 6 patients

  19. New Insight for the Diagnosis of Gastrointestinal Acute Graft-versus-Host Disease

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    Florent Malard

    2014-01-01

    Full Text Available Allogeneic stem cell transplantation (allo-SCT is a curative therapy for different life-threatening malignant and nonmalignant hematologic disorders. Graft-versus-host disease (GVHD remains a major source of morbidity and mortality following allo-SCT, which limits the use of this treatment in a broader spectrum of patients. Early diagnostic of GVHD is essential to initiate treatment as soon as possible. Unfortunately, the diagnosis of GVHD may be difficult to establish, because of the nonspecific nature of the associated symptoms and of the numerous differential diagnosis. This is particularly true regarding gastrointestinal (GI acute GVHD. In the recent years many progress has been made in medical imaging test and endoscopic techniques. The interest of these different techniques in the diagnosis of GI acute GVHD has been evaluated in several studies. With this background we review the contributions, limitations, and future prospect of these techniques in the diagnosis of GI acute GVHD.

  20. Rethinking the diagnosis of von Willebrand disease.

    Science.gov (United States)

    Favaloro, Emmanuel J

    2011-01-01

    von Willebrand disease (VWD) is the most common inherited bleeding disorder and arises from deficiencies and/or defects in the plasma protein von Willebrand factor (VWF). VWD is classified into 6 different types, with type 1 identified as a (partial) quantitative deficiency of VWF, type 3 defined by a (virtual) total deficiency of VWF, and type 2 identifying four separate types (2A, 2B, 2M, 2N) characterised by qualitative defects. The classification is based on phenotypic assays including FVIII, VWF:Ag and VWF activity, typically by ristocetin cofactor (VWF:RCo), but also increasingly by collagen binding (VWF:CB). Phenotypic testing may be supplemented by multimer analysis, RIPA, and VWF:FVIII binding. Although genetic analysis is not required to diagnose VWD or to define a classification type, it may be useful in discrete situations. The current review briefly covers this diagnostic process, with a focus on newer approaches, including extended test panels and the use of data from desmopressin challenges as a diagnostic tool. Copyright © 2011 Elsevier Ltd. All rights reserved.

  1. Genetic Identification Is Critical for the Diagnosis of Parkinsonism: A Chinese Pedigree with Early Onset of Parkinsonism.

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    Yang Yang

    Full Text Available A number of hereditary neurological diseases display indistinguishable features at the early disease stage. Parkinsonian symptoms can be found in numerous diseases, making it difficult to get a definitive early diagnosis of primary causes for patients with onset of parkinsonism. The accurate and early diagnosis of the causes of parkinsonian patients is important for effective treatments of these patients.We have identified a Chinese family (82 family members over four generations with 21 affected individuals that manifested the characterized symptoms of parkinsonism and was initially diagnosed as Parkinson's disease. We followed up with the family for two years, during which we carried out clinical observations, Positron Emission Tomography-Computed Tomography neuroimaging analysis, and exome sequencing to correctly diagnose the case.During the two-year follow-up period, we performed comprehensive medical history collection, physical examination, and structural and functional neuroimaging studies of this Chinese family. We found that the patient exhibited progressive deteriorated parkinsonism with Parkinson disease-like neuropathology and also had a good response to the initial levodopa treatment. However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia.For the inherited parkinsonian patients who even show the neuropathology similar to that in Parkinson's disease and have initial response to levodopa treatment, genetic identification of the molecular basis for the disease is still required for defining the early diagnosis and correct treatment.

  2. Cytologic and DNA-Cytometric Early Diagnosis of Oral Cancer

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    Torsten W. Remmerbach

    2001-01-01

    Full Text Available Objective. The aim of this prospective study was to report on the diagnostic accuracy of conventional oral exfoliative cytology taken from white‐spotted, ulcerated or other suspicious oral lesions in our clinic. In addition we checked DNA‐image cytometry as an adjuvant diagnostic tool. Our hypothesis is that DNA‐aneuploidy is a sensitive and specific marker for the early identification of tumor cells in oral brushings. Study design. 251 cytological diagnoses obtained from exfoliative smears of 181 patients from macroscopically suspicious lesions of the oral mucosa and from clinically seemingly benign oral lesions which were exisiced for establishing histological diagnoses were compared with histological and/or clinical follow‐ups of the respective patients. Additionally nuclear DNA‐contents were measured after Feulgen restaining using a TV image analysis system. Results. Sensitivity of our cytological diagnosis on oral smears for the detection of cancer cells was 94.6%, specificity 99.5%, positive predictive value 98.1% and negative predictive value 98.5%. DNA‐aneuploidy was assumed if abnormal DNA‐stemlines or cells with DNA‐content greater 9c were observed. On this basis the prevalence of DNA‐aneuploidy in smears of oral squamous cell carcinomas in situ or invasive carcinomas was 96.4%. Sensitivity of DNA‐aneuploidy in oral smears for the detection of cancer cells was 96.4%, specificity 100%, positive predictive value 100% and negative 99.0%. The combination of both techniques increased the sensivity to 98.2%, specificity to 100%, positive predictive value to 100% and negative to 99.5%. Conclusions. Brush cytology of all visible oral lesions, if they are clinically considered as suspicious for cancer, are an easily practicable, cheap, non‐invasive, painless, safe and accurate screening method for detection of oral precancerous lesions, carcinoma in situ or invasive squamous cell carcinoma in all stages. We conclude that

  3. Detection of Misfolded Aβ Oligomers for Sensitive Biochemical Diagnosis of Alzheimer’s Disease

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    Natalia Salvadores

    2014-04-01

    Full Text Available Alzheimer's disease (AD diagnosis is hampered by the lack of early, sensitive, and objective laboratory tests. We describe a sensitive method for biochemical diagnosis of AD based on specific detection of misfolded Aβ oligomers, which play a central role in AD pathogenesis. The protein misfolding cyclic amplification assay (Aβ-PMCA, exploits the functional property of Aβ oligomers to seed the polymerization of monomeric Aβ. Aβ-PMCA allowed detection of as little as 3 fmol of Aβ oligomers. Most importantly, using cerebrospinal fluid, we were able to distinguish AD patients from control individuals affected by a variety of other neurodegenerative disorders or nondegenerative neurological diseases with overall sensitivity of 90% and specificity of 92%. These findings provide the proof-of-principle basis for developing a highly sensitive and specific biochemical test for AD diagnosis.

  4. Endoscopic Diagnosis and Differentiation of Inflammatory Bowel Disease

    Science.gov (United States)

    Lee, Ji Min; Lee, Kang-Moon

    2016-01-01

    Patients with inflammatory bowel disease have significantly increased in recent decades in Korea. Intestinal tuberculosis (ITB) and intestinal Behcet’s disease (BD), which should be differentiated from Crohn’s disease (CD), are more frequent in Korea than in the West. Thus, the accurate diagnosis of these inflammatory diseases is problematic in Korea and clinicians should fully understand their clinical and endoscopic characteristics. Ulcerative colitis mostly presents with rectal inflammation and continuous lesions, while CD presents with discontinuous inflammatory lesions and frequently involves the ileocecal area. Involvement of fewer than four segments, a patulous ileocecal valve, transverse ulcers, and scars or pseudopolyps are more frequently seen in ITB than in CD. A few ulcers with discrete margins are a typical endoscopic finding of intestinal BD. However, the differential diagnosis is difficult in many clinical situations because typical endoscopic findings are not always observed. Therefore, clinicians should also consider symptoms and laboratory, pathological, and radiological findings, in addition to endoscopic findings. PMID:27484813

  5. Advances in diagnosis and treatment of cerebral venous system diseases

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    Xiao-yun LIU

    2016-11-01

    Full Text Available Cerebral venous system diseases include cerebral venous thrombosis (CVT, venous sinus stenosis, carotid cavernous fistula (CCF, intracranial arteriovenous malformation (AVM and so on. In recent years, due to the rapid development of neuroimaging and interventional technology, more and more cerebral venous system diseases have been timely diagnosed and treated, such as magnetic resonance black-blood thrombus imaging (MRBTI in the diagnosis of CVT, stenting in the treatment of venous sinus stenosis, micro coil plus Onyx glue or covered stents in the treatment of CCF, which allow us to make a deeper recognition of cerebral venous system diseases. Therefore, this paper will introduce the latest diagnosis and treatment of cerebral venous system diseases. DOI: 10.3969/j.issn.1672-6731.2016.11.006

  6. [Pyoderma gangrenosum: spontaneous healing after early diagnosis. Three cases and general review].

    Science.gov (United States)

    Viard, R; Scevola, A; Veber, M; Toussoun, G; Delay, E

    2013-04-01

    Pyoderma gangrenosum (PG) is a rare chronic inflammatory skin disease characterized by the recurring development of necrotizing and painful ulcers and therefore, often misinterpreted. This condition can simulate fulminant infection, particularly after surgery. The presentation is often impressive in extensive ulcerations and scarring and lead to significant sequelae. A rapid initial management avoids a dramatic evolution. We report the case of three PG for patients followed for breast reconstruction after breast cancer. PG is a neutrophilic dermatosis that can occur after injuries of varying intensity. Its shape after surgery is a rare disease whose presentation loud and fast pace "infectious" contrasts with the absence of inflammatory lymphangitis or lymphadenopathy. Be aware of prescribing high doses of corticosteroids. These three cases illustrate the importance for early diagnosis and treatment of PG, who can allow spontaneous healing without complex surgery, always feared in this context. Copyright © 2011. Published by Elsevier SAS.

  7. Humphrey visual field and frequency doubling perimetry in the diagnosis of early glaucoma.

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    Chandrasekhar G

    2003-01-01

    Full Text Available Purpose: To compare Humphrey Visual Field Analyzer (HVF and Frequency Doubling Perimetry (FDP testing in the diagnosis of early glaucoma. Methods: We performed HVF (24-2 standard full threshold and FDP (N-30 evaluations in 34 consecutive patients with early primary glaucoma and 96 normal subjects. Early glaucoma was defined on the basis of disc changes of glaucoma; the mean deviation on white-on-white perimetry had to be no worse than 6 decibels. Glaucomatous optic neuropathy was defined as a combination of cup-disc asymmetry of more than 0.2, notching, excavation, thinning or pallor of superior or inferior neuroretinal rims, retinal nerve fibre layer defects of the wedge or diffuse type and neuroretinal rim haemorrhage. Both the glaucoma patients and normal subjects had vision better than 6/9 with correction. They had no media opacities other than early nuclear sclerosis and no fundus pathology. Further, normal subjects were free of systemic diseases known to affect the retina or optic nerve, The sensitivity and specificity of HVF and FDP were calculated. Results: There were 44 eligible eyes among the 34 subjects. The glaucomatous disc findings included notch (n=8, pallor (n=21, thinning (n=23 and haemorrhage (n=1 of the neuroretinal rim. The sensitivity and the specificity of the HVF were 52.3% and 57.3% respectively. The sensitivity and the specificity of FDP were 65.9% and 61.5% respectively. Conclusion: The difference between FDP and HVF in the diagnosis of early glaucoma is not marked.

  8. [Guidelines for the early diagnosis of lung cancer for primary care physicians].

    Science.gov (United States)

    2016-01-01

    Lung cancer is a serious/medical and social problem. It belongs to the most common cancers. In the past decades, lung cancer has steadily held a leading place in the structure of cancer morbidity and mortality in our country and in the majority of European countries. Cigarette smoking remains to be the major if not only risk factor for lung cancer. Many attempts were previously made to set up systems for the early (timely) lung cancerdetection in risk groups through cytological and radiological examinations. Prophylactic fluorography and X-ray study have long been an important screening procedure in Russia and foreign countries. Recently this procedure has transformed into digital lung radiography. However, there have been no conclusive proofs for its efficiency in the early detection of lung cancer for a few decades. In the past decade, large-scale prospective randomized trials of low-dose computed tomography (CT) have been performed to screen lung cancer. These have shown that this technology can potentially reduce mortality from this disease. This encouraging result has caused a substantial change in the tactics of examining people at high risk for lung cancer. CT has fully replaced linear tomography and all others special X-ray procedures in the verified diagnosis of lung cancer. The indications for pre-examination CT have been considerably expanded in patients with X-ray detected pathology. The tactics for estimating the small lung tissue foci found at CT has been changed. Availability of CT, clear clinical indications for the study, and observance of the standard procedure have become important elements of the entire system for the early identification of lung cancer. These clinical recommendations largely deal just with organizational and methodological issues. The authors hope that the recommendations will serve as a guide for primary care physicians (therapists, pulmonologists,and radiologists) in the early diagnosis of lung cancer and in the optimization

  9. Advances in Bio-Optical Imaging for the Diagnosis of Early Oral Cancer

    Directory of Open Access Journals (Sweden)

    Ivan Keogh

    2011-07-01

    Full Text Available Oral cancer is among the most common malignancies worldwide, therefore early detection and treatment is imperative. The 5-year survival rate has remained at a dismal 50% for the past several decades. The main reason for the poor survival rate is the fact that most of the oral cancers, despite the general accessibility of the oral cavity, are not diagnosed until the advanced stage. Early detection of the oral tumors and its precursor lesions may be the most effective means to improve clinical outcome and cure most patients. One of the emerging technologies is the use of non-invasive in vivo tissue imaging to capture the molecular changes at high-resolution to improve the detection capability of early stage disease. This review will discuss the use of optical probes and highlight the role of optical imaging such as autofluorescence, fluorescence diagnosis (FD, laser confocal endomicroscopy (LCE, surface enhanced Raman spectroscopy (SERS, optical coherence tomography (OCT and confocal reflectance microscopy (CRM in early oral cancer detection. FD is a promising method to differentiate cancerous lesions from benign, thus helping in the determination of adequate resolution of surgical resection margin. LCE offers in vivo cellular imaging of tissue structures from surface to subsurface layers and has demonstrated the potential to be used as a minimally invasive optical biopsy technique for early diagnosis of oral cancer lesions. SERS was able to differentiate between normal and oral cancer patients based on the spectra acquired from saliva of patients. OCT has been used to visualize the detailed histological features of the oral lesions with an imaging depth down to 2–3 mm. CRM is an optical tool to noninvasively image tissue with near histological resolution. These comprehensive diagnostic modalities can also be used to define surgical margin and to provide a direct assessment of the therapeutic effectiveness.

  10. Multiparameter analysis of biomarkers in the laboratory diagnosis of early rheumatoid arthritis

    Directory of Open Access Journals (Sweden)

    Aleksandr Aleksandrovich Novikov

    2013-01-01

    Full Text Available Subjects and methods. 102 patients with early RA (79 women and 23 men; median age 51 years [41 to 62, 25th to 75th percentile]; disease duration 4 months [2.5 to 6.0]; DAS28 5.4 [4.1 to 5.9] were examined. A comparison group consisted of 616 patients including 27 with systemic lupus erythematosus, 15 with Sjö gren’s syndrome, 25 with ankylosing spondyloarthritis; 33 with osteoarthritis, 20 with overlap syndrome, 9, 22, and 168 patients with gouty, psoriatic, and undifferentiated arthritis, respectively; as well as 297 healthy donors matched with the examinees for gender and age. The concentrations of 36 biomarkers were measured by an immunonephelometric method, enzyme immunoassay, and xMAP technology. The values of one variable from others were predicted using a multiple linear regression method (multivariate analysis. Results. The strongest predictors of early RA, such as the concentrations of interleukin-6, C-reactive protein, granulo-cyte-macrophage colony-stimulating factor, interferon-γ (IFN-γ, IFN^-inducible protein, anti-cyclic citrullinated peptide antibodies, were identified and a candidate for MDI was developed for early RA (MIRRA. After thorough validation, MIRRA may be regarded as a precision serological assay for the early diagnosis of RA. Conclusion. The development of MDI having a higher diagnostic precision than routinely used biomarkers is imperative for early RA diagnosis that allows one to initiate active antirheumatic therapy that is able to effectively delay progressive joint injury.

  11. Visual diagnosis of hematologic and oncologic diseases.

    Science.gov (United States)

    Blackburn, P

    1993-05-01

    Cancer-related problems are seen frequently by the emergency physician. More difficult presentations are seen with premonitory symptoms, paraneoplastic syndromes, and nonspecific lesions. Dermatologic paraneoplastic syndromes are numerous, nonspecific, and consist of hamartomatous growths, texture changes, new hair growth, or changes in skin color. Alteration of skin color may be of practically any color, localized or diffuse, and of sudden or indolent onset. Hormone production by tumors may lead to acne, hirsutism, gynecomastia, or a cushingoid appearance. Pruritus may herald the onset of leukemia or lymphoma and be intolerable, as with erythroderma. All suspicious presentations require thorough investigation for underlying disease. Metastasis to skin is not common and implies a poor prognosis if seen. Most metastases are seen on the head and neck, anterior chest wall, and abdomen. Basal cell and squamous cell carcinomas commonly occur in sun-exposed areas. Basal cell is locally destructive, whereas squamous cell occasionally metastasizes to local lymph nodes. Malignant melanoma is the leading fatal illness originating in skin, with a dramatic rise in incidence. It is classically described as asymmetric with irregular borders, is elevated, and shows color variegation; however, melanoma may present atypically, particularly in non-whites. Kaposi's sarcoma lesions are well-demarcated, symmetric, smooth nodules that appear purplish-brown, particularly if below the knee (owing to venous stasis). The closely interrelated structures of the eye and orbit are easily disturbed, leading to the presenting symptoms of visual disturbances, exophthalmos, pain, and ocular motility disorders. Primary tumors are not unusual and may include retinoblastoma, rhabdomyosarcoma, and melanoma. Equally common are metastatic lesions, most commonly lung and breast carcinoma. An estimation of the malignancy of bony lesions can be made by assessing the zone of transition, periosteal reaction

  12. The Diagnosis of Minimal Change Disease in Diabetic Nephropathy

    OpenAIRE

    M. Barry Stokes

    2005-01-01

    Proteinuria is common in diabetic patients and usually reflects the presence of diabetic glomerulosclerosis. This paper reviews the differential diagnosis of proteinuria in diabetic patients and discusses the role of renal biopsy examination in identification and management of minimal change disease in this cohort. Identification of nondiabetic glomerular disease requires careful correlation of clinical history and renal biopsy findings and may have important implications for prognosis and th...

  13. Neuropathological diagnosis and CAG repeat expansion in Huntington's disease.

    OpenAIRE

    Xuereb, J H; MacMillan, J C; Snell, R; Davies, P.; Harper, P S

    1996-01-01

    OBJECTIVE--To correlate the degree of CAG repeat expansion with neuropathological findings in Huntington's disease. METHODS--The CAG repeat polymorphism was analysed in a large series of brain samples from 268 patients with a clinical diagnosis of Huntington's disease in which full neuropathological data was available. RESULTS--Analysis by polymerase chain reaction was successful in 63% of samples (169 of 268). Repeat expansions were detected in 152 of 153 (99%) samples with a neuropathologic...

  14. Diagnosis of Parasitic Diseases: Old and New Approaches

    Directory of Open Access Journals (Sweden)

    Momar Ndao

    2009-01-01

    Full Text Available Methods for the diagnosis of infectious diseases have stagnated in the last 20–30 years. Few major advances in clinical diagnostic testing have been made since the introduction of PCR, although new technologies are being investigated. Many tests that form the backbone of the “modern” microbiology laboratory are based on very old and labour-intensive technologies such as microscopy for malaria. Pressing needs include more rapid tests without sacrificing sensitivity, value-added tests, and point-of-care tests for both high- and low-resource settings. In recent years, research has been focused on alternative methods to improve the diagnosis of parasitic diseases. These include immunoassays, molecular-based approaches, and proteomics using mass spectrometry platforms technology. This review summarizes the progress in new approaches in parasite diagnosis and discusses some of the merits and disadvantages of these tests.

  15. Hidradenitis suppurativa and perianal Crohn disease: differential diagnosis.

    Science.gov (United States)

    Bassas-Vila, J; González Lama, Y

    2016-09-01

    The first description of perianal fistulas and complications in Crohn disease was made 75 years ago by Penner and Crohn. Published studies have subsequently confirmed that perianal fistulas are the most common manifestations of fistulising Crohn disease. Hidradenitis suppurativa was described in 1854 by a French surgeon, Aristide Verneuil. It is a chronic, inflammatory, recurrent and debilitating disease of the pilosebaceous follicle, that usually manifests after puberty with deep, painful and inflamed lesions in the areas of the body with apocrine glands, usually the axillary, inguinal and anogenital regions. The differential diagnosis between hidradenitis suppurativa and Crohn disease can be challenging, especially when the disease is primarily perianal. When they occur simultaneously, hidradenitis suppurativa and Crohn disease show severe phenotypes and patients can respond to anti-tumour necrosis factor therapy, although adalimumab is currently the only treatment with demonstrated efficacy in hidradenitis suppurativa and Crohn disease. In addition, there is sometimes a need for different complementary surgical procedures.

  16. Can Baropodometric Analysis be a Useful Tool in the Early Diagnosis of Atypical Parkinsonism? Preliminary Findings

    Science.gov (United States)

    Furnari, Anna; Imbesi, Donatella; La Fauci Belponer, Francesca; Militi, David; Gervasi, Giuseppe; Pastura, Concetta; Bramanti, Placido

    2014-01-01

    Objective: The differential diagnosis between atypical parkinsonism and Parkinson’s disease is difficult, especially in the early stage. Severe postural instability, falls, and complex gait impairments are usually confined to the later stage of Parkinson’s disease, while atypical parkinsonism patients may present a severe postural instability with consequent falls in the earlier stages. Methods: We retrospectively studied 20 subjects with parkinsonism using clinical and baropodometric tools to give quantitative and objective data on the postural, balance, and gait disturbances. Results: The statistical analysis between atypical parkinsonism and Parkinson’s disease patients showed a significant difference in the frequency of long lead time parameter, foot area, foot load and speed, and, in particular, atypical parkinsonism patients presented a prevalent long lead time impairment (8/8 patients) when compared with Parkinson’s disease patients. Discussion: Beside significant differences in the clinical features between the Parkinson’s disease and atypical parkinsonism, our study showed that baropodometric investigation may a valuable tool for the definition of postural and motor extrapyramidal abnormalities, permitting an earlier differentiation between atypical parkinsonism and Parkinson’s disease. PMID:24653938

  17. Recognition and diagnosis of sleep disorders in Parkinson's disease

    NARCIS (Netherlands)

    Louter, M.; Aarden, W.C.C.A.; Lion, J.; Bloem, B.R.; Overeem, S.

    2012-01-01

    Sleep disturbances are among the most frequent and incapacitating non-motor symptoms of Parkinson's disease (PD), and are increasingly recognized as an important determinant of impaired quality of life. Here we review several recent developments regarding the recognition and diagnosis of sleep disor

  18. Partial status epilepticus - rapid genetic diagnosis of Alpers' disease.

    LENUS (Irish Health Repository)

    McCoy, Bláthnaid

    2011-11-01

    We describe four children with a devastating encephalopathy characterised by refractory focal seizures and variable liver dysfunction. We describe their electroencephalographic, radiologic, genetic and pathologic findings. The correct diagnosis was established by rapid gene sequencing. POLG1 based Alpers\\' disease should be considered in any child presenting with partial status epilepticus.

  19. Biotechnology in the diagnosis of infectious diseases and vaccine development

    Science.gov (United States)

    Molecular biological methods have become increasingly applicable to the diagnosis of infectious diseases and vaccine development. To become widely used the methods need to be easy, safe, sensitive, reproducible and eventually automated to facilitate the evaluation of large number of samples. The p...

  20. Bronchoscopic cryobiopsy for the diagnosis of diffuse parenchymal lung disease.

    Directory of Open Access Journals (Sweden)

    Jonathan A Kropski

    Full Text Available BACKGROUND: Although in some cases clinical and radiographic features may be sufficient to establish a diagnosis of diffuse parenchymal lung disease (DPLD, surgical lung biopsy is frequently required. Recently a new technique for bronchoscopic lung biopsy has been developed using flexible cryo-probes. In this study we describe our clinical experience using bronchoscopic cryobiopsy for diagnosis of diffuse lung disease. METHODS: A retrospective study of subjects who had undergone bronchoscopic cryobiopsy for evaluation of DPLD at an academic tertiary care center from January 1, 2012 through January 15, 2013 was performed. The procedure was performed using a flexible bronchoscope to acquire biopsies of lung parenchyma. H&E stained biopsies were reviewed by an expert lung pathologist. RESULTS: Twenty-five eligible subjects were identified. With a mean area of 64.2 mm(2, cryobiopsies were larger than that typically encountered with traditional transbronchial forceps biopsy. In 19 of the 25 subjects, a specific diagnosis was obtained. In one additional subject, biopsies demonstrating normal parenchyma were felt sufficient to exclude diffuse lung disease as a cause of dyspnea. The overall diagnostic yield of bronchoscopic cryobiopsy was 80% (20/25. The most frequent diagnosis was usual interstitial pneumonia (UIP (n = 7. Three of the 25 subjects ultimately required surgical lung biopsy. There were no significant complications. CONCLUSION: In patients with suspected diffuse parenchymal lung disease, bronchoscopic cryobiopsy is a promising and minimally invasive approach to obtain lung tissue with high diagnostic yield.

  1. PYOMYOSITIS IN SICKLE-CELL DISEASE - AN UNEXPECTED DIAGNOSIS

    NARCIS (Netherlands)

    SMID, WM; BREUKELMAN, F; KONINGS, JG; DAENEN, S

    1995-01-01

    Pyomyositis is a pyogenic infection of muscle, leading to abscess formation. Pyomyositis is frequent in tropical areas but uncommon in areas with a temperate climate [4]; therefore, diagnosis can be difficult and can be delayed [6]. Sickle cell disease (SCD) can be complicated by vascular occlusion

  2. Towards early in vivo photoacoustic malaria diagnosis with 10,000-fold sensitivity improvement (Conference Presentation)

    Science.gov (United States)

    Carey, Kai A.; Menyaev, Yulian A.; Nedosekin, Dmitry A.; Sarimollaoglu, Mustafa; Galanzha, Ekaterina I.; Stumhofer, Jason S.; Zharov, Vladimir P.

    2017-03-01

    Roughly 0.6 million people die each year from malaria due to lack of early diagnosis and well-timed treatment. Our previous study demonstrated great potential of in vivo photoacoustic (PA) flow cytometry (PAFC) for early diagnosis of deadly diseases with focus on cancer and thromboembolic complications. Here we demonstrate potential of advanced PAFC platforms using new laser, ultrasound transducer array and recording system to detect infected red blood cells (iRBCs) with malaria-associated pigment hemozoin which has a higher PA contrast than blood background. Mature parasites of human infecting species such as P. falciparum characteristically sequester mature iRBCs in the capillary bed and display synchrony in their reproductive cycle. To address this issue prior to clinical application, new PAFC platform was verified in a pre-clinical study using new animal models. Specifically, we used P. chabaudi (a rodent malaria species that mimics the characteristics of the most virulent human counterpart) to estimate the detection sensitivity with immature ring-stage parasites in peripheral blood, compared PA signals from the differing species, and examined the relationship between PA signal amplitudes and level of blood oxygenation. Based on previous successful trials on melanoma patients with melanin as an intrinsic PA marker, which has similar absorption as hemozoin, we believe that after additional malaria-related clinical trials, PAFC with a small 1064 nm laser and wearable a cost-effective, easy-to-use, watch-like, safe PA probe will provide malaria diagnosis in humans at parasitemia levels 10e4 -times lower than the current gold standard of diagnosis, the Giemsa-stained blood smear. It can reduce malaria-related mortality by well-timed treatment, especially in children in malaria-endemic countries.

  3. Employing Real Time PCR for the Diagnosis of Huntington Disease

    Directory of Open Access Journals (Sweden)

    Frouzandeh Mahjoubi

    2013-07-01

    Full Text Available Background: Huntington disease (HD is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia. The onset age of this disease is varied but usually is between the ages 40-50. Huntington's disease is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD which is located on chromosome 4p3.1. Since many clinical picture of HD are indistinguishable from other distinct genetic disorders molecular test such as PCR is the only way to confirm the disease. The aim of this study was to introduce a new and fast technique for the diagnosis of Huntington disease.Materials and Methods: Blood specimens were collected from individuals suspected for Huntington disease and also people with no symptoms and family history of this disease. DNAs were extracted according to standard protocol. Using conventional PCR, patient positive for Huntington disease were diagnosed. Then employing real time PCR on the basis of difference between melting temperature (Tm a new and fast diagnostic method was introduced.Results: Among 29 patients suspected to be HD only 8 HD patients were confirmed using PCR and real time PCR. The numbers of CAG repeat were between 42-50 and melting temperatures were between 89-92.Conclusion: The concept of using melting temperature in real time PCR protocol presented in here could be employed for the rapid diagnosis of the diseases caused by the increased in triple repeat sequences. It is fast, robust and has the potential use for the prenatal diagnosis.

  4. DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

    Science.gov (United States)

    Olgiati, Simone; Quadri, Marialuisa; Fang, Mingyan; Rood, Janneke P M A; Saute, Jonas A; Chien, Hsin Fen; Bouwkamp, Christian G; Graafland, Josja; Minneboo, Michelle; Breedveld, Guido J; Zhang, Jianguo; Verheijen, Frans W; Boon, Agnita J W; Kievit, Anneke J A; Jardim, Laura Bannach; Mandemakers, Wim; Barbosa, Egberto Reis; Rieder, Carlos R M; Leenders, Klaus L; Wang, Jun; Bonifati, Vincenzo

    2016-02-01

    DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age < 11), prominent atypical signs, poor or absent response to levodopa, and rapid progression (wheelchair-bound within ∼10 years from onset). Here, for the first time, we report DNAJC6 mutations in early-onset Parkinson's disease (PD). The DNAJC6 open reading frame was analyzed in 274 patients with early-onset sporadic or familial PD. Selected variants were followed up by cosegregation, homozygosity mapping, linkage analysis, whole-exome sequencing, and protein studies. We identified two families with different novel homozygous DNAJC6 mutations segregating with PD. In each family, the DNAJC6 mutation was flanked by long runs of homozygosity within highest linkage peaks. Exome sequencing did not detect additional pathogenic variants within the linkage regions. In both families, patients showed severely decreased steady-state levels of the auxilin protein in fibroblasts. We also identified a sporadic patient carrying two rare noncoding DNAJC6 variants possibly effecting RNA splicing. All these cases fulfilled the criteria for a clinical diagnosis of early-onset PD, had symptoms onset in the third-to-fifth decade, and slow disease progression. Response to dopaminergic therapies was prominent, but, in some patients, limited by psychiatric side effects. The phenotype overlaps that of other monogenic forms of early-onset PD. Our findings delineate a novel form of hereditary early-onset PD. Screening of DNAJC6 is warranted in all patients with early-onset PD compatible with autosomal recessive inheritance. Our data provide further evidence for the involvement of synaptic vesicles endocytosis and trafficking in PD pathogenesis. © 2016 American Neurological Association.

  5. Intimate partner violence after the diagnosis of sexually transmitted diseases.

    Science.gov (United States)

    Andrade, Roumayne Fernandes Vieira; Araújo, Maria Alix Leite; Vieira, Luiza Jane Eyre de Souza; Reis, Cláudia Bastos Silveira; Miranda, Angélica Espinosa

    2015-01-01

    OBJECTIVE To assess the prevalence and factors associated with intimate partner violence after the diagnosis of sexually transmitted diseases. METHODS This cross-sectional study was conducted in Fortaleza, CE, Northeastern Brazil, in 2012 and involved 221 individuals (40.3% male and 59.7% female) attended to at reference health care units for the treatment of sexually transmitted diseases. Data were collected using a questionnaire applied during interviews with each participant. A multivariate analysis with a logistic regression model was conducted using the stepwise technique. Only the variables with a p value sexually transmitted diseases, the following variables remained statistically significant: extramarital relations (OR = 3.72; 95%CI 1.91;7.26; p = 0.000), alcohol consumption by the partner (OR = 2.16; 95%CI 1.08;4.33; p = 0.026), history of violence prior to diagnosis (OR = 2.87; 95%CI 1.44;5.69; p = 0.003), and fear of disclosing the diagnosis to the partner (OR = 2.66; 95%CI 1.32;5.32; p = 0.006). CONCLUSIONS Individuals who had extramarital relations, experienced violence prior to the diagnosis of sexually transmitted disease, feared disclosing the diagnosis to the partner, and those whose partner consumed alcohol had an increased likelihood of suffering violence. The high prevalence of intimate partner violence suggests that this population is vulnerable and therefore intervention efforts should be directed to them. Referral health care services for the treatment of sexually transmitted diseases can be strategic places to identify and prevent intimate partner violence.

  6. Urinary biomarkers at early ADPKD disease stage.

    Directory of Open Access Journals (Sweden)

    Katja Petzold

    Full Text Available Autosomal dominant polycystic kidney disease (ADPKD is characterized by a decline in renal function at late disease stage when the majority of functional renal parenchyma is replaced by cystic tissue. Thus, kidney function, assessed by estimated glomerular filtration rate (eGFR does not well represent disease burden in early disease. Here, we investigated various urinary markers for tubular injury and their association with disease burden in ADPKD patients at early disease course.ADPKD patients between 18 and 40 years with an eGFR greater or equal to 70 ml per min per 1.73m2 were eligible for this cross-sectional study. Urinary Neutrophil Gelatinase-Associated Lipocalin (NGAL, Kidney Injury Molecule-1 (KIM-1, and Uromodulin (UMOD were investigated by Enzyme-Linked Immunosorbent Assay. Clara Cell Protein 16 (CC16 was investigated by Latex Immuno Assay. Cryoscopy was performed to assess urine osmolality and Urinary Albumin-to-Creatinine Ratio (UACR was calculated. The association and the predictive properties of the markers on eGFR and height adjusted total kidney volume (htTKV was evaluated using multiple regression analysis, incorporating different control variables for adjustment. Internal bootstrapping validated the obtained results.In 139 ADPKD patients (age 31 ±7 years, mean eGFR of 93 ± 19 ml per min per 1.73 m2 the total kidney volume was negatively correlated with eGFR and UMOD and positive associated with age, UACR, KIM-1 and urine osmolality after adjustment for possible confounders. Urine osmolality and htTKV were also associated with eGFR, whereas no association of CC16, NGAL and UMOD with eGFR or htTKV was found.UACR and urinary KIM-1 are independently associated with kidney size but not with renal function in our study population. Urine osmolality was associated with eGFR and kidney volume following adjustment for multiple confounders. Despite statistical significance, the clinical value of our results is not yet conceivable

  7. Cross-validation of biomarkers for the early differential diagnosis and prognosis of dementia in a clinical setting

    Energy Technology Data Exchange (ETDEWEB)

    Perani, Daniela [Vita-Salute San Raffaele University, Milan (Italy); San Raffaele Scientific Institute, Division of Neuroscience, Milan (Italy); San Raffaele Hospital, Nuclear Medicine Unit, Milan (Italy); Cerami, Chiara [Vita-Salute San Raffaele University, Milan (Italy); San Raffaele Scientific Institute, Division of Neuroscience, Milan (Italy); San Raffaele Hospital, Clinical Neuroscience Department, Milan (Italy); Caminiti, Silvia Paola [Vita-Salute San Raffaele University, Milan (Italy); San Raffaele Scientific Institute, Division of Neuroscience, Milan (Italy); Santangelo, Roberto; Coppi, Elisabetta; Ferrari, Laura; Magnani, Giuseppe [San Raffaele Hospital, Department of Neurology, Milan (Italy); Pinto, Patrizia [Papa Giovanni XXIII Hospital, Department of Neurology, Bergamo (Italy); Passerini, Gabriella [Servizio di Medicina di Laboratorio OSR, Milan (Italy); Falini, Andrea [Vita-Salute San Raffaele University, Milan (Italy); San Raffaele Scientific Institute, Division of Neuroscience, Milan (Italy); San Raffaele Hospital, CERMAC - Department of Neuroradiology, Milan (Italy); Iannaccone, Sandro [San Raffaele Hospital, Clinical Neuroscience Department, Milan (Italy); Cappa, Stefano Francesco [San Raffaele Scientific Institute, Division of Neuroscience, Milan (Italy); IUSS Pavia, Pavia (Italy); Comi, Giancarlo [Vita-Salute San Raffaele University, Milan (Italy); San Raffaele Hospital, Department of Neurology, Milan (Italy); Gianolli, Luigi [San Raffaele Hospital, Nuclear Medicine Unit, Milan (Italy)

    2016-03-15

    The aim of this study was to evaluate the supportive role of molecular and structural biomarkers (CSF protein levels, FDG PET and MRI) in the early differential diagnosis of dementia in a large sample of patients with neurodegenerative dementia, and in determining the risk of disease progression in subjects with mild cognitive impairment (MCI). We evaluated the supportive role of CSF Aβ{sub 42}, t-Tau, p-Tau levels, conventional brain MRI and visual assessment of FDG PET SPM t-maps in the early diagnosis of dementia and the evaluation of MCI progression. Diagnosis based on molecular biomarkers showed the best fit with the final diagnosis at a long follow-up. FDG PET SPM t-maps had the highest diagnostic accuracy in Alzheimer's disease and in the differential diagnosis of non-Alzheimer's disease dementias. The p-tau/Aβ{sub 42} ratio was the only CSF biomarker providing a significant classification rate for Alzheimer's disease. An Alzheimer's disease-positive metabolic pattern as shown by FDG PET SPM in MCI was the best predictor of conversion to Alzheimer's disease. In this clinical setting, FDG PET SPM t-maps and the p-tau/Aβ{sub 42} ratio improved clinical diagnostic accuracy, supporting the importance of these biomarkers in the emerging diagnostic criteria for Alzheimer's disease dementia. FDG PET using SPM t-maps had the highest predictive value by identifying hypometabolic patterns in different neurodegenerative dementias and normal brain metabolism in MCI, confirming its additional crucial exclusionary role. (orig.)

  8. Heat shock protein 70 acts as a potential biomarker for early diagnosis of heart failure.

    Science.gov (United States)

    Li, Zongshi; Song, Yao; Xing, Rui; Yu, Haiyi; Zhang, Youyi; Li, Zijian; Gao, Wei

    2013-01-01

    Early identification for heart failure (HF) may be useful for disease modifying treatment in order to reduce heart disease progression or even to reverse it. In our previous studies, we have revealed a group of heat shock proteins (HSPs) which might be related to neonatal rat cardiomyocyte hypertrophy by proteomic approach. Here, we confirm that HSPs, including HSP27 and HSP70, altered in the early stage of cardiac remodeling in vivo animal model. Furthermore, plasma concentrations of those HSPs and their potential screening value were evaluated at different stages in 222 patient subjects. Plasma HSP27, HSP70 and HSP90 were measured using enzyme-linked immunosorbent assay. Results indicate that HSP70 was positively correlated to the severity (progression) of HF (r = 0.456, p<0.001). The area under the rate of change (ROC) curve was 0.601 (p = 0.017) in patients with stage B HF and 0.835 (p<0.001) in those with stage C HF. However, HSP27 and HSP90 did not display significant changes in any stage of HF in this study. Taken together, plasma concentrations of HSP70 elevated with the progression of HF and might act as a potential screening biomarker for early diagnosis of HF.

  9. How to improve the early diagnosis of pancreatic cancer%如何提高胰腺癌的早期诊断率

    Institute of Scientific and Technical Information of China (English)

    张太平; 展翰翔; 赵玉沛

    2009-01-01

    Pancreatic cancer is highly malignant with a poor prognosis. The resectability and prognosis of early pancreatic cancer are much better than the advanced, so early diagnosis is crucial for saving patients' lives. Because the symptoms of pancreatic cancer are non-specific, most of the patients are misdiagnosed as gastrointestinal or hepatobiliary diseases. Early diagnosis rate of pancreatic cancer can be greatly improved by combined application of tumor marker detection, endoscopic ultrasound, computed tomography, positron emission tomo-graphy, and etc. Early screening of high-risk population has been advocated by the experts, and its value in early diagnosis of pancreatic cancer has been confirmed by relevant studies. The colaboration of multiple pancreatic surgery centers in conducting prospective studies and setting gnidlines for the pancreatic cancer diagnosis, and relevant fundamental reseaches should also be emphasized.

  10. Intimate partner violence after the diagnosis of sexually transmitted diseases

    Directory of Open Access Journals (Sweden)

    Roumayne Fernandes Vieira Andrade

    2015-01-01

    Full Text Available OBJECTIVE To assess the prevalence and factors associated with intimate partner violence after the diagnosis of sexually transmitted diseases. METHODS This cross-sectional study was conducted in Fortaleza, CE, Northeastern Brazil, in 2012 and involved 221 individuals (40.3% male and 59.7% female attended to at reference health care units for the treatment of sexually transmitted diseases. Data were collected using a questionnaire applied during interviews with each participant. A multivariate analysis with a logistic regression model was conducted using the stepwise technique. Only the variables with a p value < 0.05 were included in the adjusted analysis. The odds ratio (OR with 95% confidence interval (CI was used as the measure of effect. RESULTS A total of 30.3% of the participants reported experiencing some type of violence (27.6%, psychological; 5.9%, physical; and 7.2%, sexual after the diagnosis of sexually transmitted disease. In the multivariate analysis adjusted to assess intimate partner violence after the revelation of the diagnosis of sexually transmitted diseases, the following variables remained statistically significant: extramarital relations (OR = 3.72; 95%CI 1.91;7.26; p = 0.000, alcohol consumption by the partner (OR = 2.16; 95%CI 1.08;4.33; p = 0.026, history of violence prior to diagnosis (OR = 2.87; 95%CI 1.44;5.69; p = 0.003, and fear of disclosing the diagnosis to the partner (OR = 2.66; 95%CI 1.32;5.32; p = 0.006. CONCLUSIONS Individuals who had extramarital relations, experienced violence prior to the diagnosis of sexually transmitted disease, feared disclosing the diagnosis to the partner, and those whose partner consumed alcohol had an increased likelihood of suffering violence. The high prevalence of intimate partner violence suggests that this population is vulnerable and therefore intervention efforts should be directed to them. Referral health care services for the treatment of sexually transmitted diseases can

  11. Intimate partner violence after the diagnosis of sexually transmitted diseases

    Science.gov (United States)

    Andrade, Roumayne Fernandes Vieira; Araújo, Maria Alix Leite; Vieira, Luiza Jane Eyre de Souza; Reis, Cláudia Bastos Silveira; Miranda, Angélica Espinosa

    2015-01-01

    OBJECTIVE To assess the prevalence and factors associated with intimate partner violence after the diagnosis of sexually transmitted diseases. METHODS This cross-sectional study was conducted in Fortaleza, CE, Northeastern Brazil, in 2012 and involved 221 individuals (40.3% male and 59.7% female) attended to at reference health care units for the treatment of sexually transmitted diseases. Data were collected using a questionnaire applied during interviews with each participant. A multivariate analysis with a logistic regression model was conducted using the stepwise technique. Only the variables with a p value < 0.05 were included in the adjusted analysis. The odds ratio (OR) with 95% confidence interval (CI) was used as the measure of effect. RESULTS A total of 30.3% of the participants reported experiencing some type of violence (27.6%, psychological; 5.9%, physical; and 7.2%, sexual) after the diagnosis of sexually transmitted disease. In the multivariate analysis adjusted to assess intimate partner violence after the revelation of the diagnosis of sexually transmitted diseases, the following variables remained statistically significant: extramarital relations (OR = 3.72; 95%CI 1.91;7.26; p = 0.000), alcohol consumption by the partner (OR = 2.16; 95%CI 1.08;4.33; p = 0.026), history of violence prior to diagnosis (OR = 2.87; 95%CI 1.44;5.69; p = 0.003), and fear of disclosing the diagnosis to the partner (OR = 2.66; 95%CI 1.32;5.32; p = 0.006). CONCLUSIONS Individuals who had extramarital relations, experienced violence prior to the diagnosis of sexually transmitted disease, feared disclosing the diagnosis to the partner, and those whose partner consumed alcohol had an increased likelihood of suffering violence. The high prevalence of intimate partner violence suggests that this population is vulnerable and therefore intervention efforts should be directed to them. Referral health care services for the treatment of sexually transmitted diseases can be strategic

  12. Predictors for early diagnosis of cerebral palsy from national registry data

    DEFF Research Database (Denmark)

    Granild-Jensen, Jakob Bie; Rackauskaite, Gija; Flachs, Esben Meulengracht;

    2015-01-01

    AIM: As early intervention is important in cerebral palsy (CP), an early diagnosis is desirable. The aim of this study was to establish the median diagnostic age of CP and to identify predictors of an early diagnosis in a population-based cohort. METHOD: Using the Danish National Cerebral Palsy...... disability, and abnormalities in the cerebral ultrasonography. The gestational age was not associated with the diagnostic age. INTERPRETATION: The median diagnostic age implies that half of the Danish children with CP will be able to enter an early intervention program before 1 year of age. A late diagnosis...... Registry (NCPR), we identified 1291 children with CP (764 males, 527 females) born between 1995 and 2003. The date of diagnosis was defined as the day the parents were told that their child was spastic or had CP. We calculated the age of diagnosis and analysed the following predictors: type of CP, degree...

  13. Is enteroscopy necessary for diagnosis of celiac disease?

    Institute of Scientific and Technical Information of China (English)

    Taylan Kav; Bulent Sivri

    2012-01-01

    Celiac disease (CD) is an autoimmune inflammatory disease of the small intestine as a result of reaction to wheat protein,gluten.Exclusion of dietary gluten is the mainstay of the treatment that necessitates a precise diagnosis of the disease.Serological screening may aid in identifying patients with suspected CD,which should be confirmed by intestinal biopsy.It has been shown that duodenal biopsies are good for detection of the disease in most patients.However,there is a group of patients with positive serology and inconclusive pathology.As a result of the widespread use of serology,many patients with equivocal findings grow quickly.Unfortunately current endoscopic methods can only diagnose villous atrophy,which can be present in the later grades of disease (i.e.,Marsh Ⅲ).To diagnose CD correctly,going deeper in the intestine may be necessary.Enteroscopy can reveal changes in CD in the intestinal mucosa in 10%-17% of cases that have negative histology at initial workup.Invasiveness of the method limits its use.Capsule endoscopy may be a good substitute for enteroscopy.However,both techniques should be reserved for patients with suspected diagnosis of complications.This paper reviews the current literature in terms of the value of enteroscopy for diagnosis of CD.

  14. CRITERIA FOR LABORATORY DIAGNOSIS OF VARIOUS FORMS EARLY CONGENITAL SYPHILIS

    Directory of Open Access Journals (Sweden)

    G. P. Martynova

    2014-01-01

    Full Text Available The results of clinical and laboratory (blood count and serological monitoring of 156 children with various forms of early congenital syphilis in the initial period and the dynamics on the background of specific therapy. Violations in haemogram characterized hypochromic anemia, thrombocytopenia, leukocytosis, neytrofillezom stab shift with a sharP increase in ESR, which prevailed among the most children with the disease over polisimptomnym and significantly exceeded the level of the norm even after specific therapy. For serological examination in 84.62 % cases registered positive results in microprecipitation reaction (RMR to 56.52% — IgM, and 97.83% — IgG reaction Enzymeimmuno assay (EIA and 100 % — Treponema pallidum hemagglutination assay (ТРHА. On the background of specific therapy indicated positive results in the growth of bladder cancer (85.19 %, in the formulation of IgM EIA (72.22 % and IgG (100%, thus, recorded a decline titer positivity serological RMR 2 times , IgM EIA reaction 12 times with simultaneous increase IgG positivity 4 times and 2 times in the ТРHА in the formulation of these reactions in the dynamics.

  15. Altered serum microRNAs as biomarkers for the early diagnosis of pulmonary tuberculosis infection

    Directory of Open Access Journals (Sweden)

    Qi Yuhua

    2012-12-01

    Full Text Available Abstract Background Pulmonary tuberculosis (TB is a highly lethal infectious disease and early diagnosis of TB is critical for the control of disease progression. The objective of this study was to profile a panel of serum microRNAs (miRNAs as potential biomarkers for the early diagnosis of pulmonary TB infection. Methods Using TaqMan Low-Density Array (TLDA analysis followed by quantitative reverse transcriptase polymerase chain reaction (qRT-PCR validation, expression levels of miRNAs in serum samples from 30 patients with active tuberculosis and 60 patients with Bordetella pertussis (BP, varicella-zoster virus (VZV and enterovirus (EV were analyzed. Results The Low-Density Array data showed that 97 miRNAs were differentially expressed in pulmonary TB patient sera compared with healthy controls (90 up-regulated and 7 down-regulated. Following qRT-PCR confirmation and receiver operational curve (ROC analysis, three miRNAs (miR-361-5p, miR-889 and miR-576-3p were shown to distinguish TB infected patients from healthy controls and other microbial infections with moderate sensitivity and specificity (area under curve (AUC value range, 0.711-0.848. Multiple logistic regression analysis of a combination of these three miRNAs showed an enhanced ability to discriminate between these two groups with an AUC value of 0.863. Conclusions Our study suggests that altered levels of serum miRNAs have great potential to serve as non-invasive biomarkers for early detection of pulmonary TB infection.

  16. The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience

    Directory of Open Access Journals (Sweden)

    Lionis Christos

    2002-04-01

    Full Text Available Abstract Background The Inborn Errors of Metabolism (IEM are far from the rare systemic diseases that mainly affect the neural tissue. There are very few written reports on ocular findings in subjects with IEM, thus it was interesting to study the frequency of ocular findings in the studied population and explore their contribution to the early diagnosis of IEM. Methods Our study involved the evaluation of IEM suspected cases, which had been identified in a rural population in Crete, Greece. Over a period of 3 years, 125 patients, who fulfilled the inclusion criteria of this study, were examined. Analytical physical examination, detailed laboratory investigation as well as a thorough ocular examination were made. Results A diagnosis of IEM was established in 23 of the 125 patients (18.4%. Ten (43.5% of the diagnosed IEM had ocular findings, while 8 of them (34.8% had findings which were specific for the diagnosed diseases. One patient diagnosed with glycogenosis type 1b presented a rare finding. Of the 102 non-diagnosed patients, 53 (51.96 % presented various ophthalmic findings, some of which could be related to a metabolic disease and therefore may be very helpful in the future. Conclusions The ocular investigation can be extremely useful for raising the suspicion and the establishment of an early diagnosis of IEM. It could also add new findings related to these diseases. The early management of the ocular symptoms can improve the quality of life to these patients.

  17. Laser mass spectrometry for DNA sequencing, disease diagnosis, and fingerprinting

    Energy Technology Data Exchange (ETDEWEB)

    Winston Chen, C.H.; Taranenko, N.I.; Zhu, Y.F.; Chung, C.N.; Allman, S.L.

    1997-03-01

    Since laser mass spectrometry has the potential for achieving very fast DNA analysis, the authors recently applied it to DNA sequencing, DNA typing for fingerprinting, and DNA screening for disease diagnosis. Two different approaches for sequencing DNA have been successfully demonstrated. One is to sequence DNA with DNA ladders produced from Snager`s enzymatic method. The other is to do direct sequencing without DNA ladders. The need for quick DNA typing for identification purposes is critical for forensic application. The preliminary results indicate laser mass spectrometry can possibly be used for rapid DNA fingerprinting applications at a much lower cost than gel electrophoresis. Population screening for certain genetic disease can be a very efficient step to reducing medical costs through prevention. Since laser mass spectrometry can provide very fast DNA analysis, the authors applied laser mass spectrometry to disease diagnosis. Clinical samples with both base deletion and point mutation have been tested with complete success.

  18. Understanding Parkinson's disease: detection and early disease management.

    Science.gov (United States)

    Mackin, L A

    2000-01-01

    Parkinson's disease (PD) is a common, debilitating, neurodegenerative disorder characterized by neuronal loss within the basal ganglia and insufficient levels of the neurotransmitter dopamine. Symptoms include resting tremor, rigidity, bradykinesia (slowness of voluntary movement), and postural disturbances. Exact cause is unknown, but theories surrounding environmental or endogenous toxicities have been suggested. Differential diagnoses include genetic and other neurologic disorders that may share symptoms similar to those seen in PD. Clinical progression has been categorized into three phases of the disease: early, nonfluctuating, and fluctuating. Medications generally offer good symptom relief during the early and nonfluctuating phases of the disease. Classifications of anti-PD medications include anticholinergics, dopamine agonists, amantadine, MAO-B inhibitors, levodopa-carbidopa, and Catechol-o-methyl transferase inhibitors. Surgical intervention may be an option for select patients whose conditions are not well controlled though medical management strategies. Primary care providers often can manage patients in the early stage of PD, but later stages require expert neurologic management. Patient/family education and anticipatory guidance is imperative.

  19. Late diagnosis of Lesch-Nyhan disease variant.

    Science.gov (United States)

    Doucet, Brian Percy; Jegatheesan, Dev; Burke, John

    2013-12-10

    A 30-year-old man was referred for investigation and management of hyperuricaemia. History included recurrent nephrolithiasis and chronic gout with poor response to medical management. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) enzyme activity was investigated and found to be deficient confirming the diagnosis of Lesch-Nyhan disease. Hyperuricaemia was treated with allopurinol. To prevent nephrolithiasis, the patient was instructed to avoid dehydration and aim for a minimum urine output of 2 L/day. Urinary alkalinisation with potassium citrate was started. The patient was referred for genetic counselling. This case discusses the genetics, pathophysiology, clinical manifestations, diagnosis and management of HGPRT deficiency.

  20. Guidelines for Screening, Early Diagnosis and Management of Severe Combined Immunodeficiency (SCID) in India.

    Science.gov (United States)

    Madkaikar, Manisha; Aluri, Jahnavi; Gupta, Sudhir

    2016-05-01

    Severe combined immunodeficiency (SCID) is one of the most severe and fatal forms of inherited primary immunodeficiency. Early diagnosis of SCID improves the outcome of life before and after hematopoietic stem cell transplant (HSCT). SCID fulfills the internationally-established criteria for a condition to be screened for at birth. T cell receptor excision circle (TREC) assay is commonly used in western countries as part of newborn blood spot screening (NBS) program as the assay has high sensitivity and specificity to identify SCID infants, allowing early intervention and curative bone marrow (BM) transplantation. In India, the blood spot based screening programs are yet to mature into a full-fledged national program. Moreover, TREC assay, a PCR based test, is not widely available and may cost USD 5-7 per test; thus limiting its applicability for screening newborns in Indian scenario. Most of the SCID patients have lymphopenia at birth and routine evaluation for absolute lymphocyte count (ALC) on cord blood samples can help in pre-symptomatic detection and early intervention for neonates with SCID. Although ALC count lacks the sensitivity and specificity of TREC assay; its lower cost and widespread availability makes it an attractive option for identifying newborns with lymphopenia during the post-partum hospital stay. BCG vaccine and other live attenuated vaccines (e.g., oral polio vaccine) should be withheld in lymphopenic infants until SCID is excluded by clinical and/or immunological work-up. A diagnosis of SCID warrants immediate care to prevent and treat infections and wherever feasible, early stem cell transplantation for disease free survival.

  1. The MUC gene family: Their role in diagnosis and early detection of pancreatic cancer

    Directory of Open Access Journals (Sweden)

    Löhr Matthias

    2003-01-01

    Full Text Available Abstract The early diagnosis of pancreatic cancer, as well as distinguishing between chronic pancreatitis and malignant pancreatic disease, remains still a clinical problem. Presently, there is no specific tumor marker for diagnosing pancreatic cancer. Mucin-associated marker like CA 19-9 are the most widely available pancreatic cancer tumor marker, but its value as a screening marker is limited by its reduced specificity. Mucins (MUCs are heavily glycosylated, high molecular weight glycoproteins with an aberrant expression profile in various malignancies. This review considers briefly the potential use of the mucin expression pattern in diagnosis of pancreatic neoplasm. The overview will point out the present knowledge about changes in the mucin gene expression in pancreatic intraepithelial neoplasia (PanINs as precursor lesions and in pancreatic adenocarcinoma, compared to normal pancreas and chronic pancreatitis and the potential role for differentiating chronic pancreatitis from pancreatic cancer. Furthermore, the potential use of MUCs in the diagnosis and differentiation of intraductal papillary-mucinous neoplasm's (IPMNs will be discussed.

  2. The role of nailfold videocapillaroscopy in Raynaud’s phenomenon monitoring and early diagnosis of systemic sclerosis

    Directory of Open Access Journals (Sweden)

    E. Alessandri

    2011-06-01

    Full Text Available Several connective tissue diseases, in particular systemic sclerosis (SSc, have Raynaud’s phenomenon (RP as their first clinical manifestation. Primary RP represents a benign condition often observed in otherwise healthy subjects, especially women: it is due to an exaggerated response to the physiological cold-induced vasospasm, whereas the secondary form of RP is typically associated with connective tissue diseases, especially SSc. Nailfold videocapillaroscopy (NVC, particulary after the recent technological advances, is a safe and reliable method to observe the microvascular structure and its early changes, especially during the transition from primary to secondary RP. In case of SSc, by considering validated patterns and scoring systems, NVC is the main tool that rheumatologists can rely on, besides the presence of specific auto-antibodies, to perform a very early diagnosis of the disease. This implies the possibility of early treatment of SSc, with an eye of predicting and preventing its major clinical complications.

  3. Anemia and bone disease of chronic kidney disease: pathogenesis, diagnosis, and management.

    Science.gov (United States)

    Shemin, Douglas

    2014-12-02

    Anemia and metabolic bone disease accompany chronic kidney disease (CKD), and worsen as CKD progresses. It is likely that both processes contribute to the increased morbidity and mortality seen in CKD. This paper briefly reviews the pathogenesis and diagnosis of anemia and bone disease in CKD, and summarizes recent consensus guidelines for treatment.

  4. Lyme disease and Bell's palsy: an epidemiological study of diagnosis and risk in England.

    Science.gov (United States)

    Cooper, Lilli; Branagan-Harris, Michael; Tuson, Richard; Nduka, Charles

    2017-05-01

    Lyme disease is caused by a tick-borne spirochaete of the Borrelia species. It is associated with facial palsy, is increasingly common in England, and may be misdiagnosed as Bell's palsy. To produce an accurate map of Lyme disease diagnosis in England and to identify patients at risk of developing associated facial nerve palsy, to enable prevention, early diagnosis, and effective treatment. Hospital episode statistics (HES) data in England from the Health and Social Care Information Centre were interrogated from April 2011 to March 2015 for International Classification of Diseases 10th revision (ICD-10) codes A69.2 (Lyme disease) and G51.0 (Bell's palsy) in isolation, and as a combination. Patients' age, sex, postcode, month of diagnosis, and socioeconomic groups as defined according to the English Indices of Deprivation (2004) were also collected. Lyme disease hospital diagnosis increased by 42% per year from 2011 to 2015 in England. Higher incidence areas, largely rural, were mapped. A trend towards socioeconomic privilege and the months of July to September was observed. Facial palsy in combination with Lyme disease is also increasing, particularly in younger patients, with a mean age of 41.7 years, compared with 59.6 years for Bell's palsy and 45.9 years for Lyme disease (P = 0.05, analysis of variance [ANOVA]). Healthcare practitioners should have a high index of suspicion for Lyme disease following travel in the areas shown, particularly in the summer months. The authors suggest that patients presenting with facial palsy should be tested for Lyme disease. © British Journal of General Practice 2017.

  5. Is early limited surgery associated with a more benign disease course in Crohn’s disease?

    Science.gov (United States)

    Golovics, Petra Anna; Lakatos, Laszlo; Nagy, Attila; Pandur, Tunde; Szita, Istvan; Balogh, Mihaly; Molnar, Csaba; Komaromi, Erzsebet; Lovasz, Barbara Dorottya; Mandel, Michael; Veres, Gabor; Kiss, Lajos S; Vegh, Zsuzsanna; Lakatos, Peter Laszlo

    2013-01-01

    AIM: To analyze the difference in disease course and need for surgery in patients with Crohn’s disease (CD). METHODS: Data of 506 patients with incident CD were analyzed (age at diagnosis: 31.5 ± 13.8 years). Both hospital and outpatient records were collected prospectively with a complete clinical follow-up and comprehensively reviewed in the population-based Veszprem province database, which includes incident CD patients diagnosed between January 1, 1977 and December 31, 2008. Follow-up data were collected until December 31, 2009. All patients included had at least 1 year of follow-up available. Patients with indeterminate colitis at diagnosis were excluded from the analysis. RESULTS: Overall, 73 patients (14.4%) required resective surgery within 1 year of diagnosis. Steroid exposure and need for biological therapy were lower in patients with early limited surgery (P < 0.001 and P = 0.09). In addition, surgery rates during follow-up in patients with and without early surgery differed significantly after matching on propensity scores (P < 0.001, HR = 0.23). The need for reoperation was also lower in patients with early limited resective surgery (P = 0.038, HR = 0.42) in a Kaplan-Meier and multivariate Cox regression (P = 0.04) analysis. However, this advantage was not observed after matching on propensity scores (PLogrank = 0.656, PBreslow = 0.498). CONCLUSION: Long-term surgery rates and overall exposure to steroids and biological agents were lower in patients with early limited resective surgery, but reoperation rates did not differ. PMID:24282358

  6. Advances of molecular imaging probes for the diagnosis of Alzheimer's disease.

    Science.gov (United States)

    Zhou, Ming; Wang, Xiaobo; Liu, Zhiguo; Yu, Lun; Hu, Shuo; Chen, Lizhang; Zeng, Wenbin

    2014-03-01

    Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressive decline in multiple cognitive domains and it becomes the most common cause of dementia in the elderly. There is an urgent need for the early diagnosis and treatment of AD to ease caregiver burden and medical costs, as well as improve patients' living activities associated with the dramatic increasing number of affected individuals. Molecular imaging with target-specific probes is contributing to identify the underlying biology in AD, which benefits to the early diagnosis of AD and the evaluation of anti-AD therapy. Molecular imaging probes, such as (11)C-PIB, (11)C-MP4A, (18)F-AV-45, and (11)F-FDG, can selectively bind to special bimolecular of AD or accurately accumulate at the location of damage areas, thus become an edge tool for a better management of the diseases in the clinical practice and new drug development. In the past decades, a large variety of probes is being developed and tested to be useful for the early and accurate diagnosis of Alzheimer's disease, patient selection for disease-modifying therapeutic trials and monitoring the effect of anti-amyloid therapy. Since imaging probes may also help to guide physicians to identify those patients that could best benefit from a given therapeutic regimen, dose, or duration of drug, this paper is to present a perspective of the available imaging probes for AD, classified on different modalities. Meanwhile, recent advances of those probes that have been selected for clinical trials and are at the different stages of the US Food and Drugs Administration (FDA) approval are outlined. Additionally, future directions and specific application of imaging strategies designed for both diagnosis and treatment for AD are discussed.

  7. Hybrid Disease Diagnosis Using Multiobjective Optimization with Evolutionary Parameter Optimization

    Directory of Open Access Journals (Sweden)

    MadhuSudana Rao Nalluri

    2017-01-01

    Full Text Available With the widespread adoption of e-Healthcare and telemedicine applications, accurate, intelligent disease diagnosis systems have been profoundly coveted. In recent years, numerous individual machine learning-based classifiers have been proposed and tested, and the fact that a single classifier cannot effectively classify and diagnose all diseases has been almost accorded with. This has seen a number of recent research attempts to arrive at a consensus using ensemble classification techniques. In this paper, a hybrid system is proposed to diagnose ailments using optimizing individual classifier parameters for two classifier techniques, namely, support vector machine (SVM and multilayer perceptron (MLP technique. We employ three recent evolutionary algorithms to optimize the parameters of the classifiers above, leading to six alternative hybrid disease diagnosis systems, also referred to as hybrid intelligent systems (HISs. Multiple objectives, namely, prediction accuracy, sensitivity, and specificity, have been considered to assess the efficacy of the proposed hybrid systems with existing ones. The proposed model is evaluated on 11 benchmark datasets, and the obtained results demonstrate that our proposed hybrid diagnosis systems perform better in terms of disease prediction accuracy, sensitivity, and specificity. Pertinent statistical tests were carried out to substantiate the efficacy of the obtained results.

  8. Automatic diagnosis of retinal diseases from color retinal images

    CERN Document Server

    Jayanthi, D; SwarnaParvathi, S

    2010-01-01

    Teleophthalmology holds a great potential to improve the quality, access, and affordability in health care. For patients, it can reduce the need for travel and provide the access to a superspecialist. Ophthalmology lends itself easily to telemedicine as it is a largely image based diagnosis. The main goal of the proposed system is to diagnose the type of disease in the retina and to automatically detect and segment retinal diseases without human supervision or interaction. The proposed system will diagnose the disease present in the retina using a neural network based classifier.The extent of the disease spread in the retina can be identified by extracting the textural features of the retina. This system will diagnose the following type of diseases: Diabetic Retinopathy and Drusen.

  9. Preclinical diagnosis of Alzheimer's disease: Prevention or prediction?

    Directory of Open Access Journals (Sweden)

    Ricardo Nitrini

    Full Text Available Abstract The diagnosis of Alzheimer's disease (AD for cases with dementia may be too late to allow effective treatment. Criteria for diagnosis of preclinical AD suggested by the Alzheimer's Association include the use of molecular and structural biomarkers. Preclinical diagnosis will enable testing of new drugs and forms of treatment toward achieving successful preventive treatment. But what are the advantages for the individual? To know that someone who is cognitively normal is probably going to develop AD's dementia when there is no effective preventive treatment is definitely not good news. A research method whereby volunteers are assigned to receive treatment or placebo without knowing whether they are in the control or at-risk arm of a trial would overcome this potential problem. If these new criteria are used wisely they may represent a relevant milestone in the search for a definitive treatment for AD.

  10. Early molecular diagnosis and detection of Puccinia striiformis f. sp. tritici in China.

    Science.gov (United States)

    Lihua, C; Shichang, X; Ruiming, L; Taiguo, L; Wanquan, C

    2008-05-01

    Wheat stripe (yellow) rust, caused by Puccinia striiformis f. sp. tritici (Pst), is the most important foliar disease on wheat in China. Early molecular diagnosis and detection of stripe rust will provide a useful aid to the accurate forecast and seasonal control of this destructive disease. Our objective was to develop PCR assays for the rapid identification and detection of P. striiformis. The genomic DNA of P. striiformis and P. triticina were amplified by a pair of primers derived from conserved beta-tubulin gene sequence. A 235-bp specific DNA fragment of P. striiformis was isolated and purified. Based on its sequence, another two primer sets were designed successfully to obtain new sequence-characterized amplified region (SCAR) markers of P. striiformis, which could be amplified in all test isolates of P. striiformis, whereas no DNA fragment was obtained in other nontarget wheat pathogens. The detection limit of the primer set YR (f)/YR (r1) was 2.20 pg microl(-1). The new SCAR markers of P. striiformis can also be detected in Pst-infected wheat leaves postinoculated for 2 days. Our assays are significantly faster than the conventional methods used in the identification of P. striiformis. Development of a simple, high-throughput assay kit for the rapid diagnosis and detection of wheat stripe rust would be anticipated in a further study.

  11. Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.

    Science.gov (United States)

    Seo, Jeong Kee

    2012-12-01

    Wilson disease (WD) is an autosomal recessive disorder of copper metabolism that results in accumulation of copper primarily in the liver, brain and cornea. Mutations in the WD gene, ATP7B, cause failure of copper excretion from hepatocyte into bile and a defective synthesis of ceruloplasmin. More than 500 mutations are now recognized, scattered throughout the ATP7B gene. Since WD has protean clinical presentations, awareness of WD in clinical practice is important for the early diagnosis and prevention of accumulated copper toxicity. Molecular genetic testing is playing an increasingly important role in the diagnosis of WD in uncertain cases and family screening. Siblings should be screened for WD once an index case has been diagnosed. Discrimination of heterozygotes from asymptomatic patients is essential to avoid inappropriate lifelong therapy for heterozygotes. Genetic testing, either by haplotype analysis or by mutation analysis, is the only definite solution for differentiating heterozygote carriers from affected asymptomatic patients. Routine genetic testing, because of the multitude of documented mutations, has been thought to be impractical until recently. However, genetic testing is now being more actively applied to the diagnosis of WD, particularly in young children in whom conventional biochemical diagnosis has much limitation and only genetic testing is able to confirm WD. Because advancement of modern biochemical technology now allows more rapid, easier, and less expensive mutation detection, direct DNA sequencing could be actively considered as the primary mode of diagnostic investigation rather than a supplementary test to the conventional biochemical tests. This review will focus on the recent advancement of molecular genetics and genetic diagnosis of WD in very young children on the basis of research data of the Seoul National University Children's Hospital and recent literature.

  12. 基于阿尔茨海默病早期诊断集成特征选择方法的研究%RESEARCH OF INTEGRATED FEATURE SELECTION METHOD BASED ON THE EARLY DIAGNOSIS OF ALZHEIMER'S DISEASE

    Institute of Scientific and Technical Information of China (English)

    曹元磊; 胡斌; 高翔

    2016-01-01

    Alzheimer is a disease which effects our lives. It is difficult to cure. However,the diagnose of mild cognitive impairment,the early stage of Alzheimer,is the key to delay the progress and treatment of the diseas. MRI is a kind of important image data. Analysis of MRI,use of classification algorithm and separating MCI from normal control is a significant method. And feature selection is an essential step to improve the accuracy of classification. We proposed integrated feature selection method combining the mutual information and Pearson correlation coefficient,not only investigating the correlation between each feature and class labels,and ensuring minimum redundancy between the selected feature subsets. Compared with the classification model of support vector institutions with single mutual information method and max - relevance and min - redundancy method,the results show that the proposed method of classification in higher prediction accuracy,illustrating certain advantages.%阿尔茨海默病是一种严重影响人类生活的病症,它具有难以治愈的特点。而其早期症状,轻度认知障碍的诊断就成了延缓发展和治疗的关键。核磁共振图像是诊断脑部疾病的重要影像资料。通过分析核磁共振图像,再利用分类算法,将轻度认知障碍患者从正常人中区分开来成为一种重要的方法。而特征选择则是提高分类准确率的必要步骤。本文提出将互信息和皮尔逊相关系数集成的特征选择方法,不仅考察每个特征对类标签的相关性,而且保证选出的特征子集之间冗余度最小。实验结果证明,与互信息和 mRMR 方法结合支持向量机进行分类性能比较,本文提出的方法分类准确性更高,说明本文的特征选择方法具有较好的优势。

  13. Mild cognitive impairment (part 2: biological markers for diagnosis and prediction of dementia in Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Orestes V. Forlenza

    2013-09-01

    Full Text Available Objective: To present a critical review of publications reporting on the rationale and clinical implications of the use of biomarkers for the early diagnosis of Alzheimer's disease (AD. Methods: We conducted a systematic search of the PubMed and Web of Science electronic databases, limited to articles published in English between 1999 and 2012, and based on the following terms: mild cognitive impairment, Alzheimer's disease OR dementia, biomarkers. We retrieved 1,130 articles, of which 175 were reviews. Overall, 955 original articles were eligible. Results: The following points were considered relevant for the present review: a rationale for biomarkers research in AD and mild cognitive impairment (MCI; b usefulness of distinct biomarkers for the diagnosis and prediction of AD; c the role of multimodality biomarkers for the diagnosis and prediction of AD; d the role of biomarkers in clinical trials of patients with AD and MCI; and e current limitations to the widespread use of biomarkers in research and clinical settings. Conclusion: Different biomarkers are useful for the early diagnosis and prediction of AD in at-risk subjects. Nonetheless, important methodological limitations need to be overcome for widespread use of biomarkers in research and clinical settings.

  14. Early diagnosis of slipped capital femoral epiphysis on magnetic resonance imaging: A case report with review of literature

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    Sanjay M Khaladkar

    2015-01-01

    Full Text Available Slipped capital femoral epiphysis (SCFE is a common hip condition occurring in adolescents, with a prevalence of 10 cases per 100,000 children. It usually affects younger age group from 10 to 17 years. The condition is usually found to be coexistent with various other conditions such as obesity, growth surges, and endocrine disorders such as hypothyroidism, growth hormone supplementation, hypogonadism, and pan-hypopituitarism. Patients present with limping and a poorly localized pain in the hip, groin, thigh, or knee. Diagnosis of the condition is often delayed due to its nonassociation with trauma and hence increases the chances of developing various complications such as avascular necrosis, chondrolysis and deformity. Majority of researches of SCFE are from Europe and North America, while studies in Asian populations are rare. Delay in diagnosis of SCFE is usually due to patients presenting with knee pain. Imaging can thus aid in early diagnosis and appropriate treatment of the disease, which in turn reduces incidence of deformity and disability in the affected children. Bilateral hip radiography - anteroposterior and frog′s-leg lateral views and magnetic resonance imaging (MRI are the radiological techniques that help in early diagnosis. MRI detects early physeal changes of both preslip and SCFE even when radiographs and computed tomography are normal. MRI should be routinely used to diagnose early SCFE in preslip stage to avoid further complications.

  15. Expert System Diagnosis Dental Disease Using Certainty Factor Method

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    Whisnu Ulinnuha Setiabudi

    2017-05-01

    Full Text Available Technological development is growing rapidly among with the increasing of human needs especially in mobile technology where the technology that often be used is android. The existence of this android facilitates the user in access of information. This android can be used for healthy needs, for example is detecting dental disease. One of the branches of computer science that can help society in detecting dental disease is expert system. In this research, making expert system to diagnosis dental disease by using certainty factor method. Dental disease diagnosis application can diagnose the patient based on griping of the patient about dental disease so it can be obtained diseases possibility of the patient itself. This application is an expert system application that operates on android platform. Furthermore, in the measurement accuracy of the system test performed by 20 patients, there were 19 cases of corresponding and 1 cases that do not fit. So, from system testing performed by 20 patients resulted in a 95% accuracy rate. 

  16. Integrated proteo-genomic approach for early diagnosis and prognosis of cancer.

    Science.gov (United States)

    Shukla, Hem D; Mahmood, Javed; Vujaskovic, Zeljko

    2015-12-01

    Cancer is the leading cause of mortality among men and women worldwide. Despite the availability of numerous diagnostic techniques for various cancers, the overall survival rate remains low and the majority of patients die due to late diagnosis and advanced stage of the disease. Diagnosing and treating cancer at its early stages ideally during the precancerous phase could significantly increase survival rate with the possibility of cure and prolong survival. Cancer is a genetic disease and it is illicitly activated by the acquisition of somatic DNA lesions and aberrations in genome structure and defects in maintenance and repair. These somatic DNA mutations known as driver mutations seem to be the prime cause in initiating tumorigenesis. The advances in genomic technologies have immensely facilitated the understanding of cancer progression and metastasis, and the discovery of novel biomarkers. However, changes in somatic mutational landscape of the oncogenome are translated into aberrantly regulated oncoproteome which drives the cancer initiation. Thus, combination of proteomic and genomic technologies is urgently required to discover biomarkers for early diagnosis. The recent advances in human genome based detection of cancer using advanced genomic technologies like NextGen Sequencing, digital PCR, cfDNA technology have shown promise; for example oncogenic somatic mutation variants, transcriptomic analysis, copy number variant, and methylation data from the Cancer Genome Atlas. Similarly, oncoproteomics has the potential to revolutionize clinical management of the disease, including cancer diagnosis and screening based on new proteomic database which embodies somatic variants and post translational modifications, thus devising proteomic technologies as a complement to histopathology. Further, the use of multiple proteomic and genomic biomarkers rather than a single gene or protein could greatly improve diagnostic accuracy and enhance the predictive power for

  17. Salivary proteomics: A new adjuvant approach to the early diagnosis of familial juvenile systemic lupus erythematosus.

    Science.gov (United States)

    Abrão, Aline Lauria P; Falcao, Denise Pinheiro; de Amorim, Rivadávio Fernandes Batista; Bezerra, Ana Cristina B; Pombeiro, Gilson Augusto N M; Guimarães, Luciano Junqueira; Fregni, Felipe; Silva, Luciano Paulino; da Mota, Licia Maria Henrique

    2016-04-01

    Systemic lupus erythematosus (SLE) is a chronic multisystemic disease characterized by autoimmune inflammatory disturbance. Pleomorphic manifestations are present and a potentially progressive and debilitating course can be detected. SLE rarely manifests before age 5, and its onset peaks is around puberty. Although clinical manifestations, immunological alterations and treatment do not differ between juvenile and adult SLE, children tend to present with a more aggressive disease course than adults. Hence, autoimmune rheumatic diseases are the most common cause of morbidity and mortality in pediatric populations. Blood serum analysis plays an especially important role in the detection and monitoring of autoantibodies in SLE. However, since blood sampling is an uncomfortable procedure, especially in children, novel less invasive techniques and approaches are of utmost importance to evaluate pediatric subjects. In this regard, saliva samples have several advantages, such as: easy access, fast collection, painless and riskless procedure. Saliva has antimicrobial, immunomodulatory and anti-inflammatory properties, as well as several other relevant features. The whole saliva is a complex mixture of major and minor salivary gland secretion, gingival crevicular fluid, transudates plasma protein, keratinocyte products and oral microbiota. This biological fluid reflects the physiological state of the body, including the emotional condition, and endocrine, nutritional and metabolic changes. Therefore, salivary proteomics is becoming increasingly used for the early diagnosis of several diseases such as breast cancer, oral cancer, Sjögren's syndrome, diffuse systemic sclerosis, rheumatoid arthritis, among others. Considering the detection of some potential markers related to SLE in serum and urine, this study aims to conduct an initial evaluation of the possible presence of such biomarkers in saliva. Furthermore, it is expected to track down new salivary proteins that could be

  18. Meniere′s disease: Still a mystery disease with difficult differential diagnosis

    Directory of Open Access Journals (Sweden)

    Vassiliou A

    2011-01-01

    Full Text Available One hundred and forty-six years after its first description, the differential diagnosis of Meniere′s disease remains very challenging. The aim of the present study is to review the current knowledge on the advantages and disadvantages of the new diagnostic methods for Meniere′s disease. The importance of accurate diagnosis for primary healthcare systems is also discussed. An extensive search of the literature was performed in Medline and other available database sources. Information from electronic links and related books were also included. Controlled clinical studies, prospective cohort studies, retrospective cohort studies, cross-sectional studies, case reports, written guidelines, systematic reviews, and books were selected. The typical clinical triad of symptoms from the vestibular and cochlear systems (recurrent vertigo, fluctuating sensorineural hearing loss and tinnitus is usually the key for clinical diagnosis. Glycerol dehydration test and electrocochleography are the main diagnostic tests in current practice, while vestibular evoked myogenic potentials may be used in disease staging. Imagine techniques are not specific enough to set alone the diagnosis of Meniere′s disease, although they may be necessary to exclude other pathologies. Recently developed 3D MRI protocols can delineate the perilymphatic/endolymphatic spaces of the inner ear and aid diagnosis. Meniere′s disease is a continuous problem for the patients and affects their quality of life. Taking into account the frequent nature of the disease in certain countries, efforts for reliable diagnosis, prompt referral, and successful management are undoubtedly cost-effective for healthcare systems.

  19. A REVIEW ON DISEASES MANIFESTATION BY OCULAR DISEASES USING COMPUTER AIDED DIAGNOSIS (CAD

    Directory of Open Access Journals (Sweden)

    Ridza Azri Ramlee

    2015-08-01

    Full Text Available The use of eye for diagnosis for detecting the disease has been used long time ago. However, for conventional medical practitioners this procedure are used to detect diseases that cause vision problems. This method is widely used by practitioners of alternative medicine that uses the eyes to detect the presence of disease, such as iridology practitioners. In this paper we study the method adopted by the researchers based on conventional and alternative medical practitioners to detect the presence of disease using a computer-aided diagnosis (CAD or automatically

  20. Medical microbiology: laboratory diagnosis of invasive pneumococcal disease.

    Science.gov (United States)

    Werno, Anja M; Murdoch, David R

    2008-03-15

    The laboratory diagnosis of invasive pneumococcal disease (IPD) continues to rely on culture-based methods that have been used for many decades. The most significant recent developments have occurred with antigen detection assays, whereas the role of nucleic acid amplification tests has yet to be fully clarified. Despite developments in laboratory diagnostics, a microbiological diagnosis is still not made in most cases of IPD, particularly for pneumococcal pneumonia. The limitations of existing diagnostic tests impact the ability to obtain accurate IPD burden data and to assess the effectiveness of control measures, such as vaccination, in addition to the ability to diagnose IPD in individual patients. There is an urgent need for improved diagnostic tests for pneumococcal disease--especially tests that are suitable for use in underresourced countries.

  1. Delayed diagnosis of coeliac disease increases cancer risk

    Directory of Open Access Journals (Sweden)

    Di Benedetto Rita

    2007-03-01

    Full Text Available Abstract Background The association between coeliac disease (CD and neoplasms has been long established, but few data are available about the risk factors. The aim of this paper is to estimate the risk of developing a neoplasm among non diagnosed coeliac patients and to evaluate if this risk correlates with the age of patients at diagnosis of coeliac disease. Methods The study population consists of patients (n = 1968 diagnosed with CD at 20 Italian gastroenterology referral Centers between 1st January 1982 and 31st March 2005. Results The SIR for all cancers resulted to be 1.3; 95% CI = 1.0–1.7 p Conclusion Coeliac patients have an increased risk of developing cancer in relation to the age of diagnosis of CD. This risk results higher for malignancies of the gastro-intestinal sites. An accurate screening for tumors should be performed in patients diagnosed with CD in adulthood and in advancing age.

  2. Motor neurone disease: a practical update on diagnosis and management.

    Science.gov (United States)

    Wood-Allum, Clare; Shaw, Pamela J

    2010-06-01

    Motor neurone disease (MND) is an adult-onset neurodegenerative disease which leads inexorably via weakness of limb, bulbar and respiratory muscles to death from respiratory failure three to five years later. Most MND is sporadic but approximately 10% is inherited. In exciting recent breakthroughs two new MND genes have been identified. Diagnosis is clinical and sometimes difficult--treatable mimics must be excluded before the diagnosis is ascribed. Riluzole prolongs life by only three to four months and is only available for the amyotrophic lateral sclerosis (ALS) form of MND. Management therefore properly focuses on symptom relief and the preservation of independence and quality of life. Malnutrition is a poor prognostic factor. In appropriate patients enteral feeding is recommended although its use has yet to be shown to improve survival. In ALS patients with respiratory failure and good or only moderately impaired bulbar function non-invasive positive pressure ventilation prolongs life and improves quality of life.

  3. [Significance of glucose-6-phosphate isomerase assay in early diagnosis of rheumatoid arthritis].

    Science.gov (United States)

    Xu, J; Liu, J; Zhu, L; Zhang, X W; Li, Z G

    2016-12-18

    To explore the titer of glucose-6-phosphate isomerase (GPI) for early diagnosis of the outpatient with rheumatoid arthritis (RA) in real life, and to analyze its relationship with disease activity. In the study, 1 051 patients with arthritis were collected in the group who had joints tender and swelling, and 90 cases of healthy people as a control group. ELISA method was used to detect the serum level of GPI, and according to clinical features and laboratory test, all the patients including 525 RA patients, the other patients including osteoarthritis (OA), 134 cases of seronegative spine joint disease (SpA), 104 cases of systemic lupus erythematosus (SLE), 31 cases of primary Sjogren syndrome (pSS), 24 cases of gout arthritis (GA), 22 cases of other connective tissue diseases (including polymyalgia rheumatica, dermatomyositis, systemic sclerosis, adult Still disease) and 46 cases of other diseases (including 165 cases of osteoporosis, avascular necrosis of the femoral head, traumatic osteomyelitis, bone and joint disease, juvenile rheumatoid arthritis, tumor). The diagnostic values of GPI were assessed, and the differences between the GPI positive and negative groups of the RA patients in clinical characteristics, disease activity, severity and inflammatory index analyzed. The positive rate of serum GPI in the patients with RA was 55.4%, contrasting to other autoimmune diseases (14.3%) and healthy controls (7.78%)(P<0.001). Compared with the OA and SpA patients, the RA group was increased more significantly, and the difference was statistically significant (P<0.001). The diagnostic value of GPI alone for RA was 0.39 mg/L, the sensitivity was 54.2%, and specificity was 87.3%. The positive rate of GPI in RF negative patients was 36.1%; the positive rate of GPI in anti-CCP antibody negative patients was 34.2%; the positive rate of GPI in RF and anti-CCP antibody negative patients was 24.1%. The level of GPI had positive correlation (P<0.05) with ESR, RF, anti

  4. XBONE: a hybrid expert system for supporting diagnosis of bone diseases.

    Science.gov (United States)

    Hatzilygeroudis, I; Vassilakos, P J; Tsakalidis, A

    1997-01-01

    In this paper, XBONE, a hybrid medical expert system that supports diagnosis of bone diseases is presented. Diagnosis is based on various patient data and is performed in two stages. In the early stage, diagnosis is based on demographic and clinical data of the patient, whereas in the late stage it is mainly based on nuclear medicine image data. Knowledge is represented via an integrated formalism that combines production rules and the Adaline artificial neural unit. Each condition of a rule is assigned a number, called its significance factor, representing its significance in drawing the conclusion of the rule. This results in better representation, reduction of the knowledge base size and gives the system learning capabilities.

  5. Crystallographic study of PET radiotracers in clinical evaluation for early diagnosis of Alzheimers

    Directory of Open Access Journals (Sweden)

    Angela Altomare

    2014-11-01

    Full Text Available The title compound, C24H25NO3·2CH3OH, which crystallized as a methanol disolvate, has applications as a PET radiotracer in the early diagnosis of Alzheimer's disease. The dihedral angle between the biphenyl rings is 8.2 (2° and the heterocyclic ring adopts a half-chair conformation with the N atom adopting a pyramidal geometry (bond-angle sum = 327.6°. The C atoms of both methoxy groups lie close to the plane of their attached ring [deviations = 0.107 (6 and 0.031 (6 Å]. In the crystal, the components are linked by O—H...O and O—H...N hydrogen bonds, generating [010] chains. C—H...O interactions are also observed.

  6. Diagnosis and minimally invasive treatment of early stage breast carcinoma

    NARCIS (Netherlands)

    van Esser, S.

    1979-01-01

    In this thesis the diagnostic work up and minimally invasive surgical treatment of early stage breast carcinoma is studied. Although the surgical treatment of breast carcinoma has improved significantly over the past decades, there is still room for improvement. On the one hand the focus is on early

  7. Diagnosis and Early Warning of Wind Turbine Faults Based on Cluster Analysis Theory and Modified ANFIS

    Directory of Open Access Journals (Sweden)

    Quan Zhou

    2017-07-01

    Full Text Available The construction of large-scale wind farms results in a dramatic increase of wind turbine (WT faults. The failure mode is also becoming increasingly complex. This study proposes a new model for early warning and diagnosis of WT faults to solve the problem of Supervisory Control And Data Acquisition (SCADA systems, given that the traditional threshold method cannot provide timely warning. First, the characteristic quantity of fault early warning and diagnosis analyzed by clustering analysis can obtain in advance abnormal data in the normal threshold range by considering the effects of wind speed. Based on domain knowledge, Adaptive Neuro-fuzzy Inference System (ANFIS is then modified to establish the fault early warning and diagnosis model. This approach improves the accuracy of the model under the condition of absent and sparse training data. Case analysis shows that the effect of the early warning and diagnosis model in this study is better than that of the traditional threshold method.

  8. Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks

    Science.gov (United States)

    2017-05-11

    Alzheimer Disease, Early Onset; Alzheimer Disease; Alzheimer Disease, Late Onset; Dementia, Alzheimer Type; Logopenic Progressive Aphasia; Primary Progressive Aphasia; Visuospatial/Perceptual Abilities; Posterior Cortical Atrophy; Executive Dysfunction; Corticobasal Degeneration; Ideomotor Apraxia

  9. Lipid raft disarrangement as a result of neuropathological progresses: a novel strategy for early diagnosis?

    Science.gov (United States)

    Marin, R; Rojo, J A; Fabelo, N; Fernandez, C E; Diaz, M

    2013-08-15

    Lipid rafts are the preferential site of numerous membrane signaling proteins which are involved in neuronal functioning and survival. These proteins are organized in multiprotein complexes, or signalosomes, in close contact with lipid classes particularly represented in lipid rafts (i.e. cholesterol, sphingolipids and saturated fatty acids), which may contribute to physiological responses leading to neuroprotection. Increasing evidence indicates that alteration of lipid composition in raft structures as a consequence of neuropathologies, such as Alzheimer's disease (AD) and Parkinson's disease (PD), causes a dramatic increase in lipid raft order. These phenomena may correlate with perturbation of signalosome activities, likely contributing to neurodegenerative progression. Interestingly, significant disruption of stable raft microenvironments has been already observed in the first stages of either AD or PD, suggesting that these alterations may represent early events in the neuropathological development. In this regard, the search for biochemical markers, such as specific metabolic products altered in the brain at the first steps of the disease, presently represents an important challenge for early diagnostic strategies. Alterations of these biomarkers may be reflected in either plasma or cerebrospinal fluid, thus representing a potential strategy to predict an accurate diagnosis. We propose that pathologically-linked lipid raft markers may be interesting candidates to be explored at this level, although it has not been studied so far to what extent alteration of different signalosome components may be reflected in peripheral fluids. In this mini-review, we will discuss on relevant aspects of lipid rafts that contribute to the modulation of neuropathological events related to AD and PD. An interesting hypothesis is that anomalies on raft biomarkers measured at peripheral fluids might mirror the lipid raft pathology observed in early stages of AD and PD.

  10. Calcium pyrophosphate crystal deposition disease: diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Rosales-Alexander JL

    2014-05-01

    Full Text Available José Luis Rosales-Alexander,1 Jerónimo Balsalobre Aznar,1 César Magro-Checa2 1Rheumatology Department, Hospiten Ramblas, Santa Cruz de Tenerife, 2Rheumatology Department, San Cecilio University Hospital, Granada, Spain Abstract: Calcium pyrophosphate dihydrate crystal deposition disease (CPPD is an inflammatory arthritis produced by the deposition of calcium pyrophosphate (CPP crystals in the synovium and periarticular soft tissues. It is the third most common inflammatory arthritis. Diagnosis is suspected on the basis of the clinical picture and radiographic/laboratory findings. The reference standard for the diagnosis of CPPD is based on the identification of CPP crystals in synovial fluid by light microscopy, compensated polarized light microscopy, or phase contrast microscopy. Most treatment approaches for CPPD are based upon clinical experience and not upon controlled trials. They range – depending on the subtype and the characteristics of symptoms – from no treatment to interleukin-1 blockade antibodies or specific therapy for an underlying disease. This review summarizes all we know so far about the diagnosis and management of CPPD. Keywords: calcium pyrophosphate dihydrate deposition disease, CPPD, chondrocalcinosis, crystal-induced arthritides

  11. Quantum associative memory for the diagnosis of some tropical diseases

    CERN Document Server

    Njafa, J -P Tchapet; Woafo, P

    2013-01-01

    In this paper we present a model of Quantum Associative Memory which can be a helpful tool for physicians without experience or laboratory facilities, for the diagnosis of four tropical diseases (malaria, typhoid fever, yellow fever and dengue) which have similar symptoms. The memory can distinguish single infection from multi-infection. The algorithm used for Quantum Associative Memory is an improve model of original algorithm made by Ventura for Quantum Associative Memory. From the simulation results given, it appears that the efficiency of recognition is good when a particular symptom of a disease with a similar symptoms are inserted.

  12. Noninvasive diagnosis of chronic kidney diseases using urinary proteome analysis

    DEFF Research Database (Denmark)

    Siwy, Justyna; Zürbig, Petra; Argiles, Angel

    2016-01-01

    BACKGROUND: In spite of its invasive nature and risks, kidney biopsy is currently required for precise diagnosis of many chronic kidney diseases (CKDs). Here, we explored the hypothesis that analysis of the urinary proteome can discriminate different types of CKD irrespective of the underlying...... mechanism of disease. METHODS: We used data from the proteome analyses of 1180 urine samples from patients with different types of CKD, generated by capillary electrophoresis coupled to mass spectrometry. A set of 706 samples served as the discovery cohort, and 474 samples were used for independent...

  13. Increased risk of non-alcoholic fatty liver disease after diagnosis of celiac disease.

    Science.gov (United States)

    Reilly, Norelle R; Lebwohl, Benjamin; Hultcrantz, Rolf; Green, Peter H R; Ludvigsson, Jonas F

    2015-06-01

    Non-alcoholic fatty liver disease is a common cause of chronic liver disease. Celiac disease alters intestinal permeability and treatment with a gluten-free diet often causes weight gain, but so far there are few reports of non-alcoholic fatty liver disease in patients with celiac disease. Population-based cohort study. We compared the risk of non-alcoholic fatty liver disease diagnosed from 1997 to 2009 in individuals with celiac disease (n = 26,816) to matched reference individuals (n = 130,051). Patients with any liver disease prior to celiac disease were excluded, as were individuals with a lifetime diagnosis of alcohol-related disorder to minimize misclassification of non-alcoholic fatty liver disease. Cox regression estimated hazard ratios for non-alcoholic fatty liver disease were determined. During 246,559 person-years of follow-up, 53 individuals with celiac disease had a diagnosis of non-alcoholic fatty liver disease (21/100,000 person-years). In comparison, we identified 85 reference individuals diagnosed with non-alcoholic fatty liver disease during 1,488,413 person-years (6/100,000 person-years). This corresponded to a hazard ratio of 2.8 (95% CI 2.0-3.8), with the highest risk estimates seen in children (HR = 4.6; 95% CI 2.3-9.1). The risk increase in the first year after celiac disease diagnosis was 13.3 (95% CI 3.5-50.3) but remained significantly elevated even beyond 15 years after the diagnosis of celiac disease (HR = 2.5; 95% CI 1.0-5.9). Individuals with celiac disease are at increased risk of non-alcoholic fatty liver disease compared to the general population. Excess risks were highest in the first year after celiac disease diagnosis, but persisted through 15 years after diagnosis with celiac disease. Copyright © 2015 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

  14. A nanostructured genosensor for the early diagnosis of systemic arterial hypertension.

    Science.gov (United States)

    Rolim, Thalita; Cancino, Juliana; Zucolotto, Valtencir

    2015-02-01

    The rapid progress of nanomedicine, especially in areas related to medical imaging and diagnostics, has motivated the development of new nanomaterials that can be combined with biological materials for specific medical applications. One such area of research involves the detection of specific DNA sequences for the early diagnosis of genetic diseases, using nanoparticles-containing genosensors. Typical genosensors devices are based on the use of sensing electrodes - biorecognition platforms - containing immobilized capture DNA probes capable of hybridizing with specific target DNA sequences. In this paper we show that upon an appropriate design of the biorecognition platform, efficient sandwich-type genosensors based upon DNA-AuNPs nanocomplexes can be efficiently applied to the detection of a Systemic Arterial Hypertension (SAH) polymorphism located in intron 16 of the Angiotensin-converter enzyme (ACE) gene. Since SAH is intimately related to heart diseases, especially blood hypertension, its early detection is of great biomedical interest. The biorecognition platforms were assembled using mixed self-assembled monolayers (SAMmix), which provided the immobilization of organized architectures with molecular control. Detection of the DNA target sequence at concentrations down to 1 nM was carried out using electrochemical impedance spectroscopy (EIS). We show that the use of EIS combined with specific nanobiocomplexes represents an efficient method for the unambiguous detection of complementary DNA hybridization for preventative nanomedicine applications.

  15. Serum-based microRNA signatures in early diagnosis and prognosis prediction of colon cancer.

    Science.gov (United States)

    Vychytilova-Faltejskova, Petra; Radova, Lenka; Sachlova, Milana; Kosarova, Zdenka; Slaba, Katerina; Fabian, Pavel; Grolich, Tomas; Prochazka, Vladimir; Kala, Zdenek; Svoboda, Marek; Kiss, Igor; Vyzula, Rostislav; Slaby, Ondrej

    2016-10-01

    Early detection of colorectal cancer is the main prerequisite for successful treatment and reduction of mortality. Circulating microRNAs were previously identified as promising diagnostic, prognostic and predictive biomarkers. The purpose of this study was to identify serum microRNAs enabling early