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Sample records for clinical disease statistical

  1. Statistics Clinic

    Science.gov (United States)

    Feiveson, Alan H.; Foy, Millennia; Ploutz-Snyder, Robert; Fiedler, James

    2014-01-01

    Do you have elevated p-values? Is the data analysis process getting you down? Do you experience anxiety when you need to respond to criticism of statistical methods in your manuscript? You may be suffering from Insufficient Statistical Support Syndrome (ISSS). For symptomatic relief of ISSS, come for a free consultation with JSC biostatisticians at our help desk during the poster sessions at the HRP Investigators Workshop. Get answers to common questions about sample size, missing data, multiple testing, when to trust the results of your analyses and more. Side effects may include sudden loss of statistics anxiety, improved interpretation of your data, and increased confidence in your results.

  2. Mining a clinical data warehouse to discover disease-finding associations using co-occurrence statistics.

    Science.gov (United States)

    Cao, Hui; Markatou, Marianthi; Melton, Genevieve B; Chiang, Michael F; Hripcsak, George

    2005-01-01

    This paper applies co-occurrence statistics to discover disease-finding associations in a clinical data warehouse. We used two methods, chi2 statistics and the proportion confidence interval (PCI) method, to measure the dependence of pairs of diseases and findings, and then used heuristic cutoff values for association selection. An intrinsic evaluation showed that 94 percent of disease-finding associations obtained by chi2 statistics and 76.8 percent obtained by the PCI method were true associations. The selected associations were used to construct knowledge bases of disease-finding relations (KB-chi2, KB-PCI). An extrinsic evaluation showed that both KB-chi2 and KB-PCI could assist in eliminating clinically non-informative and redundant findings from problem lists generated by our automated problem list summarization system.

  3. Heart Disease and Stroke Statistics

    Science.gov (United States)

    ... Media for Heart.org Heart and Stroke Association Statistics Banner 1 - Stats white banner Each year, the ... health and disease in the population. Heart & Stroke Statistics FAQs What is Prevalence? Prevalence is an estimate ...

  4. Statistical literacy for clinical practitioners

    CERN Document Server

    Holmes, William H

    2014-01-01

    This textbook on statistics is written for students in medicine, epidemiology, and public health. It builds on the important role evidence-based medicine now plays in the clinical practice of physicians, physician assistants and allied health practitioners. By bringing research design and statistics to the fore, this book can integrate these skills into the curricula of professional programs. Students, particularly practitioners-in-training, will learn statistical skills that are required of today’s clinicians. Practice problems at the end of each chapter and downloadable data sets provided by the authors ensure readers get practical experience that they can then apply to their own work.  Topics covered include:   Functions of Statistics in Clinical Research Common Study Designs Describing Distributions of Categorical and Quantitative Variables Confidence Intervals and Hypothesis Testing Documenting Relationships in Categorical and Quantitative Data Assessing Screening and Diagnostic Tests Comparing Mean...

  5. Statistics in clinical research: Important considerations.

    Science.gov (United States)

    Barkan, Howard

    2015-01-01

    Statistical analysis is one of the foundations of evidence-based clinical practice, a key in conducting new clinical research and in evaluating and applying prior research. In this paper, we review the choice of statistical procedures, analyses of the associations among variables and techniques used when the clinical processes being examined are still in process. We discuss methods for building predictive models in clinical situations, and ways to assess the stability of these models and other quantitative conclusions. Techniques for comparing independent events are distinguished from those used with events in a causal chain or otherwise linked. Attention then turns to study design, to the determination of the sample size needed to make a given comparison, and to statistically negative studies.

  6. Developments in statistical evaluation of clinical trials

    CERN Document Server

    Oud, Johan; Ghidey, Wendimagegn

    2014-01-01

    This book describes various ways of approaching and interpreting the data produced by clinical trial studies, with a special emphasis on the essential role that biostatistics plays in clinical trials. Over the past few decades the role of statistics in the evaluation and interpretation of clinical data has become of paramount importance. As a result the standards of clinical study design, conduct and interpretation have undergone substantial improvement. The book includes 18 carefully reviewed chapters on recent developments in clinical trials and their statistical evaluation, with each chapter providing one or more examples involving typical data sets, enabling readers to apply the proposed procedures. The chapters employ a uniform style to enhance comparability between the approaches.

  7. The thresholds for statistical and clinical significance

    DEFF Research Database (Denmark)

    Jakobsen, Janus Christian; Gluud, Christian; Winkel, Per

    2014-01-01

    threshold if the trial is stopped early or if interim analyses have been conducted; (4) adjust the confidence intervals and the P-values for multiplicity due to number of outcome comparisons; and (5) assess clinical significance of the trial results. CONCLUSIONS: If the proposed five-step procedure...... not reflect the probability of getting a result assuming an alternative hypothesis to the null hypothesis is true. Second, a confidence interval or a P-value showing significance may be caused by multiplicity. Third, statistical significance does not necessarily result in clinical significance. Therefore......, assessment of intervention effects in randomised clinical trials deserves more rigour in order to become more valid. METHODS: Several methodologies for assessing the statistical and clinical significance of intervention effects in randomised clinical trials were considered. Balancing simplicity...

  8. Celiac disease: clinical observations

    Directory of Open Access Journals (Sweden)

    Yu. A. Emel’yanova

    2016-01-01

    Full Text Available Presented clinical cases of patients with a diagnosis of gluten enteropathy in treatment in the department of gastroenterology Regional Clinical Hospital. The case is of interest to doctors of different specialties for the differential diagnosis of anemia and malabsorption syndrome, demonstrate both the classic version, and atypical forms of the disease course. Diagnosis of celiac disease is based on three key positions: clinical findings, histology and serological markers. The clinical picture of celiac disease is characterized by pronounced polymorphism, by going beyond the a gastroenterological pathology. For screening of gluten sensitive celiac typically used an antibody to tissue transglutaminase. Morphological research of the mucous membrane of the small intestine is the determining criterion in the diagnosis of celiac disease. The use of specific gluten-free diet leads to the positive dynamics of the disease and improve the quality of life of patients.

  9. Statistical Issues in TBI Clinical Studies

    Directory of Open Access Journals (Sweden)

    Paul eRapp

    2013-11-01

    Full Text Available The identification and longitudinal assessment of traumatic brain injury presents several challenges. Because these injuries can have subtle effects, efforts to find quantitative physiological measures that can be used to characterize traumatic brain injury are receiving increased attention. The results of this research must be considered with care. Six reasons for cautious assessment are outlined in this paper. None of the issues raised here are new. They are standard elements in the technical literature that describes the mathematical analysis of clinical data. The purpose of this paper is to draw attention to these issues because they need to be considered when clinicians evaluate the usefulness of this research. In some instances these points are demonstrated by simulation studies of diagnostic processes. We take as an additional objective the explicit presentation of the mathematical methods used to reach these conclusions. This material is in the appendices. The following points are made:1. A statistically significant separation of a clinical population from a control population does not ensure a successful diagnostic procedure.2. Adding more variables to a diagnostic discrimination can, in some instances, actually reduce classification accuracy.3. A high sensitivity and specificity in a TBI versus control population classification does not ensure diagnostic successes when the method is applied in a more general neuropsychiatric population. 4. Evaluation of treatment effectiveness must recognize that high variability is a pronounced characteristic of an injured central nervous system and that results can be confounded by either disease progression or spontaneous recovery. A large pre-treatment versus post-treatment effect size does not, of itself, establish a successful treatment.5. A procedure for discriminating between treatment responders and nonresponders requires, minimally, a two phase investigation. This procedure must include a

  10. On controversial statistical issues in clinical research

    Directory of Open Access Journals (Sweden)

    Chow SC

    2015-05-01

    Full Text Available Shein-Chung Chow,1 Fuyu Song2 1Duke University School of Medicine, Durham, NC, USA; 2Peking University Clinical Research Institute, Peking University Health Science Center, Beijing, People's Republic of China Abstract: In clinical development of a test treatment under investigation, clinical trials are often conducted for evaluation of safety and efficacy of the test treatment. To provide an accurate and reliable assessment, adequate and well-controlled clinical trials using valid study designs are necessarily conducted for obtaining substantial evidence of safety and efficacy of the test treatment under investigation. In practice, however, some debatable issues are commonly encountered regardless compliance with good statistics practice and good clinical practice. These issues include, but are not limited to: 1 appropriateness of statistical hypotheses for clinical investigation; 2 correctness of power analysis assumptions; 3 integrity of randomization and blinding; 4 post hoc endpoint selection; 5 impact of protocol amendments on the characteristics of the trial population; 6 multiplicity in clinical trials; 7 missing data imputation; 8 adaptive design methods; and 9 independence of a data monitoring committee. In this article, these issues are briefly described. The impact of these issues on the evaluation of the safety and efficacy of the test treatment under investigation are discussed with examples whenever applicable. Some recommendations regarding possible resolutions of these issues are also provided. Keywords: data safety monitoring committee, endpoint selection, integrity of blinding, missing data imputation, multiplicity, protocol amendment, two-stage adaptive designs

  11. Pompe disease: clinical perspectives

    Directory of Open Access Journals (Sweden)

    Cabello JF

    2016-12-01

    Full Text Available Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and Food Technology Institute (INTA, University of Chile, Santiago, Chile; 2Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA Abstract: Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300 is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage disease type II. There is a broad clinical presentation: the most severe form that presents in the first few months of life with cardiomyopathy and generalized muscle weakness that rapidly progresses to death from cardio-respiratory failure in the first year of life (infant-onset Pompe disease. A more slowly progressive disease, with little or no cardiac involvement, presents with proximal myopathy and/or pulmonary insufficiency, from the second year of life to late adulthood (late-onset Pompe disease. The recent development and introduction of enzyme replacement therapy with intravenous infusion of recombinant human acid alpha-glucosidase have made a major improvement in the morbidity and mortality of this disease. New therapies are also in development. With the availability of treatment, diagnostic methods have also improved, allowing for earlier recognition and potential early therapeutic intervention. The advent of newborn screening for Pompe disease may identify patients who can be treated before significant irreversible disease has occurred. Keywords: Pompe disease, glycogen storage disease, lysosomal storage disease, enzyme replacement therapy, gene therapy, chaperone therapy, genotype/phenotype, newborn screening

  12. CLINICAL STATISTICAL STUDIES ON HEMATURIA IN OUTPATIENTS

    OpenAIRE

    青木, 正治; 熊本, 悦明

    1982-01-01

    Clinical statistical studies on hematuria were performed in outpatients who were seen at our Department, during the 7-year period from 1974 through 1980. Of the 11,574 outpatients studied, the total number of outpatients with hematuria 1,705; macroscopic hematuria was found in 446 cases (3.9%) and microscopic hematuria was in 1,259 cases (10.9%). The most frequent cause of macroscopic hematuria was malignant urinary tumors and that of microscopic hematuria was urinary tract infections. Macros...

  13. Statistical insights into major human muscular diseases.

    Science.gov (United States)

    Gupta, Shakti; Kim, Sung-Min; Wang, Yu; Dinasarapu, Ashok Reddy; Subramaniam, Shankar

    2014-07-15

    Muscular diseases lead to muscle fiber degeneration, impairment of mobility, and in some cases premature death. Many of these muscular diseases are largely idiopathic. The goal of this study was to identify biomarkers based on their functional role and possible mechanisms of pathogenesis, specific to individual muscular disease. We analyzed the muscle transcriptome from five major muscular diseases: acute quadriplegic myopathy (AQM), amyotrophic lateral sclerosis (ALS), mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), dermatomyositis (DM) and polymyositis (PM) using pairwise statistical comparison to identify uniquely regulated genes in each muscular disease. The genome-wide information encoded in the transcriptome provided biomarkers and functional insights into dysregulation in each muscular disease. The analysis showed that the dysregulation of genes in forward membrane pathway, responsible for transmitting action potential from neural excitation, is unique to AQM, while the dysregulation of myofibril genes, determinant of the mechanical properties of muscle, is unique to ALS, dysregulation of ER protein processing, responsible for correct protein folding, is unique to DM, and upregulation of immune response genes is unique to PM. We have identified biomarkers specific to each muscular disease which can be used for diagnostic purposes.

  14. Statistical reasoning in clinical trials: hypothesis testing.

    Science.gov (United States)

    Kelen, G D; Brown, C G; Ashton, J

    1988-01-01

    Hypothesis testing is based on certain statistical and mathematical principles that allow investigators to evaluate data by making decisions based on the probability or implausibility of observing the results obtained. However, classic hypothesis testing has its limitations, and probabilities mathematically calculated are inextricably linked to sample size. Furthermore, the meaning of the p value frequently is misconstrued as indicating that the findings are also of clinical significance. Finally, hypothesis testing allows for four possible outcomes, two of which are errors that can lead to erroneous adoption of certain hypotheses: 1. The null hypothesis is rejected when, in fact, it is false. 2. The null hypothesis is rejected when, in fact, it is true (type I or alpha error). 3. The null hypothesis is conceded when, in fact, it is true. 4. The null hypothesis is conceded when, in fact, it is false (type II or beta error). The implications of these errors, their relation to sample size, the interpretation of negative trials, and strategies related to the planning of clinical trials will be explored in a future article in this journal.

  15. Statistical analyses in disease surveillance systems.

    Science.gov (United States)

    Lescano, Andres G; Larasati, Ria Purwita; Sedyaningsih, Endang R; Bounlu, Khanthong; Araujo-Castillo, Roger V; Munayco-Escate, Cesar V; Soto, Giselle; Mundaca, C Cecilia; Blazes, David L

    2008-11-14

    The performance of disease surveillance systems is evaluated and monitored using a diverse set of statistical analyses throughout each stage of surveillance implementation. An overview of their main elements is presented, with a specific emphasis on syndromic surveillance directed to outbreak detection in resource-limited settings. Statistical analyses are proposed for three implementation stages: planning, early implementation, and consolidation. Data sources and collection procedures are described for each analysis.During the planning and pilot stages, we propose to estimate the average data collection, data entry and data distribution time. This information can be collected by surveillance systems themselves or through specially designed surveys. During the initial implementation stage, epidemiologists should study the completeness and timeliness of the reporting, and describe thoroughly the population surveyed and the epidemiology of the health events recorded. Additional data collection processes or external data streams are often necessary to assess reporting completeness and other indicators. Once data collection processes are operating in a timely and stable manner, analyses of surveillance data should expand to establish baseline rates and detect aberrations. External investigations can be used to evaluate whether abnormally increased case frequency corresponds to a true outbreak, and thereby establish the sensitivity and specificity of aberration detection algorithms.Statistical methods for disease surveillance have focused mainly on the performance of outbreak detection algorithms without sufficient attention to the data quality and representativeness, two factors that are especially important in developing countries. It is important to assess data quality at each state of implementation using a diverse mix of data sources and analytical methods. Careful, close monitoring of selected indicators is needed to evaluate whether systems are reaching their

  16. [Wilson's disease: clinical spectrum of liver disease].

    Science.gov (United States)

    Ochoa Palominos, Alejandra; Ibáñez Samaniego, Luis; Catalina Rodríguez, María-Vega; Pajares Díaz, José; Clemente Ricote, Gerardo

    2013-02-01

    Wilson's disease is a hereditary autosomal recessive disorder of copper metabolism,characterized by copper accumulation in the liver and brain. This rare entity, which has a broad clinical spectrum, is often difficult to diagnose and should therefore always be suspected in patients with liver disease of unclear cause. We describe two types of manifestation of liver disease in two patients; the first developed fulminant hepatic failure requiring urgent liver transplantation and the second showed advanced chronic liver disease and received standard medical treatment. The objective of this clinical observation is to analyze the diagnosis of Wilson's disease in two patients with distinct onset, illustrating the broad clinical spectrum of the disease, and its treatment.

  17. Data and Statistics: Women and Heart Disease

    Science.gov (United States)

    ... Pressure Salt Cholesterol Million Hearts® WISEWOMAN Women and Heart Disease Fact Sheet Recommend on Facebook Tweet Share Compartir ... Atlas of Heart Disease Facts on Women and Heart Disease Heart disease is the leading cause of death ...

  18. Clinical patterns in Parkinson's disease

    NARCIS (Netherlands)

    Rooden, Stephanie Maria van

    2012-01-01

    The clinical heterogeneity of Parkinson’s disease (PD) patients may reflect the existence of subtypes of the disease. PD subtypes have often been defined by a classification according to researcher-specified criteria, such as age-at-onset or predominant clinical motor features. The general objective

  19. Statistical data processing in clinical proteomics

    NARCIS (Netherlands)

    S. Smit

    2009-01-01

    The subject of this thesis is the analysis of data in clinical proteomics studies aimed at the discovery of biomarkers. The data sets produced in proteomics studies are huge, characterized by a small number of samples in which many proteins and peptides are measured. The studies described in this th

  20. Statistical Methods for Quantitatively Detecting Fungal Disease from Fruits’ Images

    OpenAIRE

    Jagadeesh D. Pujari; Yakkundimath, Rajesh Siddaramayya; Byadgi, Abdulmunaf Syedhusain

    2013-01-01

    In this paper we have proposed statistical methods for detecting fungal disease and classifying based on disease severity levels.  Most fruits diseases are caused by bacteria, fungi, virus, etc of which fungi are responsible for a large number of diseases in fruits. In this study images of fruits, affected by different fungal symptoms are collected and categorized based on disease severity. Statistical features like block wise, gray level co-occurrence matrix (GLCM), gray level runlength matr...

  1. [Clinical research XIV. From the clinical judgment to the statistical model].

    Science.gov (United States)

    Talavera, Juan O; Rivas-Ruiz, Rodolfo

    2013-01-01

    A statistical test is incomprehensible when it is out of context, so it is necessary to identify the details of the phenomenon of causality in the clinical course of the disease and to integrate the statistical model. Thus, the statistical tests used will try to characterize baseline, maneuver and the outcome, and will show the relationship between them. When we read the results in clinical research, the first thing that the author describes are general characteristics of the population, starting with number of patients evaluated and selected, average age, gender, and number of subjects meeting the outcome. This is extremely important because with the same criteria two studies may contain populations completely opposite. Posterior description usually continues through tables that follow a logical sequence, which allow us to integrate the statistical model to clinical judgment: baseline characteristics of the population and its distribution in each of the maneuvers, characteristics of the main and peripheral maneuvers, main effect of the maneuver on the outcome, and the impact of principal maneuver in the outcome, but adjusted for any variable that can alter this impact.

  2. Clinical neurogenetics: huntington disease.

    Science.gov (United States)

    Bordelon, Yvette M

    2013-11-01

    Huntington disease (HD) is an autosomal dominant, adult-onset, progressive neurodegenerative disease characterized by the triad of abnormal movements (typically chorea), cognitive impairment, and psychiatric problems. It is caused by an expanded CAG repeat in the gene encoding the protein huntingtin on chromosome 4 and causes progressive atrophy of the striatum as well as cortical and other extrastriatal structures. Genetic testing has been available since 1993 to confirm diagnosis in affected adults and for presymptomatic testing in at-risk individuals. This review covers HD signs, symptoms, and pathophysiology; current genetic testing issues; and current and future treatment strategies.

  3. Statistical challenges for central monitoring in clinical trials: a review.

    Science.gov (United States)

    Oba, Koji

    2016-02-01

    Recently, the complexity and costs of clinical trials have increased dramatically, especially in the area of new drug development. Risk-based monitoring (RBM) has been attracting attention as an efficient and effective trial monitoring approach, which can be applied irrespectively of the trial sponsor, i.e., academic institution or pharmaceutical company. In the RBM paradigm, it is expected that a statistical approach to central monitoring can help improve the effectiveness of on-site monitoring by prioritizing and guiding site visits according to central statistical data checks, as evidenced by examples of actual trial datasets. In this review, several statistical methods for central monitoring are presented. It is important to share knowledge about the role and performance capabilities of statistical methodology among clinical trial team members (i.e., sponsors, investigators, data managers, monitors, and biostatisticians) in order to adopt central statistical monitoring for assessing data quality in the actual clinical trial.

  4. Clinical statistics of gynecologic cancers in Japan

    Science.gov (United States)

    Nagase, Satoru

    2017-01-01

    Cervical, endometrial, and ovarian cancers, have both high morbidity and mortality among the gynecologic malignant tumors in Japan. The present study was conducted using both the population-based cancer registry and the gynecologic cancer registry to elucidate the characteristics of gynecologic malignant tumors in Japan. Based on nationwide estimates from the population-based cancer registry in Japan, the morbidities and mortality of cervical, endometrial, and ovarian cancers were obtained and used for analysis. Clinicopathologic factors for cervical cancer, endometrial cancer, ovarian cancer, including age, clinical stage, postsurgical stage, histological type, therapeutic strategy, and prognosis were retrieved from the gynecologic cancer registry published by the Japan Society of Obstetrics and Gynecology and used for analysis. The morbidities of cervical, endometrial, and ovarian cancers were 10,908, 13,606, and 9,384 women in 2012, respectively. The prevalence of endometrial cancer has significantly and consistently been increasing and represents the most common gynecologic malignant tumor in Japan. The mortalities of cervical, endometrial, and ovarian cancers were 2.1, 1.3, and 3.2 per 100,000 in 2012, respectively. In 2014, 52.2% of cervical cancer patients were classified as stage I, 22.5% as stage II, 10.2% as stage III, and 11.2% as stage IV. In addition, 71.9% of endometrial cancer patients were classified as stage I, 6.0% as stage II, 13.3% as stage III, and 7.5% as stage IV. Finally, 43.2% of ovarian cancer patients were classified as stage I, 9.1% as stage II, 27.6% as stage III, and 7.2% as stage IV. Twelve point five percent of ovarian cancer patients received neoadjuvant chemotherapy. PMID:28198168

  5. [Relationship of statistics and data management in clinical trials].

    Science.gov (United States)

    Chen, Feng; Sun, Hua-long; Shen, Tong; Yu, Hao

    2015-11-01

    A perfect clinical trial must nave a solid study design, strict conduction, complete quality control, non-interference of statistical result, and acceptable risk-benefit ratio. To reach the target, the quality control (QC) should be performed from the study design to conduction, from the analysis to conclusion. We discuss the relationship between data management and biostatistics from the statistical point of view, and emphasize the importance of the statistical concept and methods in the improvement of data quality in clinical data management.

  6. Lies, damned lies and statistics: Clinical importance versus statistical significance in research.

    Science.gov (United States)

    Mellis, Craig

    2017-02-28

    Correctly performed and interpreted statistics play a crucial role for both those who 'produce' clinical research, and for those who 'consume' this research. Unfortunately, however, there are many misunderstandings and misinterpretations of statistics by both groups. In particular, there is a widespread lack of appreciation for the severe limitations with p values. This is a particular problem with small sample sizes and low event rates - common features of many published clinical trials. These issues have resulted in increasing numbers of false positive clinical trials (false 'discoveries'), and the well-publicised inability to replicate many of the findings. While chance clearly plays a role in these errors, many more are due to either poorly performed or badly misinterpreted statistics. Consequently, it is essential that whenever p values appear, these need be accompanied by both 95% confidence limits and effect sizes. These will enable readers to immediately assess the plausible range of results, and whether or not the effect is clinically meaningful.

  7. Clinic Analysis of Behcet Disease

    Institute of Scientific and Technical Information of China (English)

    Jingjun Lin; Hongni Li; Yixia Huang; Kangkeng Zheng; Zhongxia Zhou; Xiaofeng Lin

    2004-01-01

    Purpose: To analyze the clinic manifestation and prognosis of Behcet disease.Method: Twenty patients requiring inpatient treatment with Behcet disease were retrospectively analyzed.Results: The morbidity of Behcet disease is 5.5/100 000. In the systemic damage, stomatocace and skin lesion are 95%, eye lesion and genital ulcer 50%, joint lesion 45%,gastrointestinal lesion 35%, Uveitis is the major disease in eye lesion, and followed in order by retinal vasculitis and obstruction of retinal artery. Attack age average 30.3 years old. Diagnosis age average 34.8 years old. The patients stay in hospital for 41 days on the average. Cure rate is 55%, improvement rate 40%, blinding rate of eye lesion is 36%.Conclusions: Behcet disease is a multisystem lesion disease. Stomatocace and skin lesion is the major lesion, the next in common occurrence are eye and genital lesions. Repeated attack of uveitis, complicated cataract and secondary glaucoma are the major causes of blindness.

  8. Research statistics in Atopic Eczema: what disease is this?

    Directory of Open Access Journals (Sweden)

    Hon Kam-Lun

    2012-06-01

    Full Text Available Abstract Background Atopic eczema is a common and distressing disease. This study aims to review PubMed indexed research statistics on atopic eczema over a-10 year period to investigate the clinical relevance and research interest about this disease. Methods PubMed (a service of the U.S. National Library of Medicine was searched for the terms “atopic dermatitis” and “eczema”, with limits activated (Humans, Clinical Trial, Meta-Analysis, Randomized Controlled Trial, English, published in the last 10 years, and editorials, letters, practice guidelines, reviews, and animal studies excluded. Journal impact factor (IF is in accordance with Journal Citation Report (JCR 2009, a product of Thomson ISI (Institute for Scientific Information. Results A total of 890 articles were retrieved. Taking out publications that were irrelevant and those without an impact factor, 729 articles were obtained. These articles were grouped into dermatology (n = 337, mean IF: 3.01, allergy/immunology (n = 215, mean IF: 4.89, pediatrics (n = 118, mean IF: 2.53 and miscellaneous subject categories (n = 142, mean IF: 5.10. The impact factors were highest in the miscellaneous category (p = 0.0001, which includes such prestigious journals as the New England journal of Medicine (n = 1, IF: 47.05, the Lancet (n = 4, IF: 30.76 and BMJ (n = 6, IF: 13.66. There was no publication in any family medicine or general practice journal. The British Journal of Dermatology (n = 78, Pediatric Allergy and Immunology (n = 49 and Journal of Allergy and Clinical Immunology (n = 46 had the highest number of publications on the subject. Atopic eczema ranked higher in impact factors in allergy/immunology although more publications appeared in the dermatology category. Conclusions Atopic eczema is a multidisciplinary disease. Its clinical relevance and research interests are definitely beyond that of a mere cutaneous disease. Investigators may

  9. Misuse of statistical tests in Archives of Clinical Neuropsychology publications.

    Science.gov (United States)

    Schatz, Philip; Jay, Kristin A; McComb, Jason; McLaughlin, Jason R

    2005-12-01

    This article reviews the (mis)use of statistical tests in neuropsychology research studies published in the Archives of Clinical Neuropsychology in the years 1990-1992 and 1996-2000, and 2001-2004, prior to, commensurate with the internet-based and paper-based release, and following the release of the American Psychological Association's Task Force on Statistical Inference. The authors focused on four statistical errors: inappropriate use of null hypothesis tests, inappropriate use of P-values, neglect of effect size, and inflation of Type I error rates. Despite the recommendations of the Task Force on Statistical Inference published in 1999, the present study recorded instances of these statistical errors both pre- and post-APA's report, with only the reporting of effect size increasing after the release of the report. Neuropsychologists involved in empirical research should be better aware of the limitations and boundaries of hypothesis testing as well as the theoretical aspects of research methodology.

  10. Trichinella infection and clinical disease

    DEFF Research Database (Denmark)

    Clausen, M R; Meyer, C N; Krantz, T;

    1996-01-01

    Trichinellosis is caused by ingestion of insufficiently cooked meat contaminated with infective larvae of Trichinella species. The clinical course is highly variable, ranging from no apparent infection to severe and even fatal disease. We report two illustrative cases of trichinellosis. Returning....... Life-threatening cardiopulmonary, renal and central nervous system complications developed. The patient recovered after several months. Her husband, who also ate the pork, did not have clinical symptoms, but an increased eosinophil count and a single larva in a muscle biopsy confirmed infection...

  11. CDKD: a clinical database of kidney diseases

    Directory of Open Access Journals (Sweden)

    Singh Sanjay

    2012-04-01

    Full Text Available Abstract Background The main function of the kidneys is to remove waste products and excess water from the blood. Loss of kidney function leads to various health issues, such as anemia, high blood pressure, bone disease, disorders of cholesterol. The main objective of this database system is to store the personal and laboratory investigatory details of patients with kidney disease. The emphasis is on experimental results relevant to quantitative renal physiology, with a particular focus on data relevant for evaluation of parameters in statistical models of renal function. Description Clinical database of kidney diseases (CDKD has been developed with patient confidentiality and data security as a top priority. It can make comparative analysis of one or more parameters of patient’s record and includes the information of about whole range of data including demographics, medical history, laboratory test results, vital signs, personal statistics like age and weight. Conclusions The goal of this database is to make kidney-related physiological data easily available to the scientific community and to maintain & retain patient’s record. As a Web based application it permits physician to see, edit and annotate a patient record from anywhere and anytime while maintaining the confidentiality of the personal record. It also allows statistical analysis of all data.

  12. Huntington's disease: a clinical review

    Directory of Open Access Journals (Sweden)

    Roos Raymund AC

    2010-12-01

    Full Text Available Abstract Huntington disease (HD is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD. The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which

  13. The questioned p value: clinical, practical and statistical significance.

    Science.gov (United States)

    Jiménez-Paneque, Rosa

    2016-09-09

    The use of p-value and statistical significance have been questioned since the early 80s in the last century until today. Much has been discussed about it in the field of statistics and its applications, especially in Epidemiology and Public Health. As a matter of fact, the p-value and its equivalent, statistical significance, are difficult concepts to grasp for the many health professionals some way involved in research applied to their work areas. However, its meaning should be clear in intuitive terms although it is based on theoretical concepts of the field of Statistics. This paper attempts to present the p-value as a concept that applies to everyday life and therefore intuitively simple but whose proper use cannot be separated from theoretical and methodological elements of inherent complexity. The reasons behind the criticism received by the p-value and its isolated use are intuitively explained, mainly the need to demarcate statistical significance from clinical significance and some of the recommended remedies for these problems are approached as well. It finally refers to the current trend to vindicate the p-value appealing to the convenience of its use in certain situations and the recent statement of the American Statistical Association in this regard.

  14. [Clinical research IV. Relevancy of the statistical test chosen].

    Science.gov (United States)

    Talavera, Juan O; Rivas-Ruiz, Rodolfo

    2011-01-01

    When we look at the difference between two therapies or the association of a risk factor or prognostic indicator with its outcome, we need to evaluate the accuracy of the result. This assessment is based on a judgment that uses information about the study design and statistical management of the information. This paper specifically mentions the relevance of the statistical test selected. Statistical tests are chosen mainly from two characteristics: the objective of the study and type of variables. The objective can be divided into three test groups: a) those in which you want to show differences between groups or inside a group before and after a maneuver, b) those that seek to show the relationship (correlation) between variables, and c) those that aim to predict an outcome. The types of variables are divided in two: quantitative (continuous and discontinuous) and qualitative (ordinal and dichotomous). For example, if we seek to demonstrate differences in age (quantitative variable) among patients with systemic lupus erythematosus (SLE) with and without neurological disease (two groups), the appropriate test is the "Student t test for independent samples." But if the comparison is about the frequency of females (binomial variable), then the appropriate statistical test is the χ(2).

  15. Clinical studies on thyroid diseases

    NARCIS (Netherlands)

    Eskes, S.A.

    2014-01-01

    This thesis focuses on some aspects of thyroid disease: prevention of autoimmune thyroid disease (AITD), diagnosis of related conditions as autoimmune hypophysitis in autoimmune hypothyroidism (Hashimoto’s disease), and treatment of amiodarone-induced thyrotoxicosis (AIT).

  16. MDS clinical diagnostic criteria for Parkinson's disease

    NARCIS (Netherlands)

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

    2015-01-01

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

  17. Infectious Disease Clinical Research Program (IDCRP)

    Data.gov (United States)

    Federal Laboratory Consortium — Our mission is to conduct infectious disease clinical research of importance to the military through a unique, adaptive, and collaborative network, to inform health...

  18. Graphics and statistics for cardiology: clinical prediction rules.

    Science.gov (United States)

    Woodward, Mark; Tunstall-Pedoe, Hugh; Peters, Sanne Ae

    2017-04-01

    Graphs and tables are indispensable aids to quantitative research. When developing a clinical prediction rule that is based on a cardiovascular risk score, there are many visual displays that can assist in developing the underlying statistical model, testing the assumptions made in this model, evaluating and presenting the resultant score. All too often, researchers in this field follow formulaic recipes without exploring the issues of model selection and data presentation in a meaningful and thoughtful way. Some ideas on how to use visual displays to make wise decisions and present results that will both inform and attract the reader are given. Ideas are developed, and results tested, using subsets of the data that were used to develop the ASSIGN cardiovascular risk score, as used in Scotland.

  19. 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...

  20. Stochastical modeling for Viral Disease: Statistical Mechanics and Network Theory

    Science.gov (United States)

    Zhou, Hao; Deem, Michael

    2007-04-01

    Theoretical methods of statistical mechanics are developed and applied to study the immunological response against viral disease, such as dengue. We use this theory to show how the immune response to four different dengue serotypes may be sculpted. It is the ability of avian influenza, to change and to mix, that has given rise to the fear of a new human flu pandemic. Here we propose to utilize a scale free network based stochastic model to investigate the mitigation strategies and analyze the risk.

  1. Statistical analysis of 233 cases in cerebovascular Diseases

    Institute of Scientific and Technical Information of China (English)

    Hu Hao-Yu; Zhejiang; Jlnhua

    2000-01-01

    Objection:Monitoring Clinical in-patient constituent ratio in cerebral vasscular diseases. Methods: we monitored 233 cases of CVD in clinical in--patient 13170 cases for three years with unique registry card accroding to ICD--9. These pepole′s data was putted in computer. Age, sex, constituent ratio of each disease in CVD was observed and number of death and rank order of cases of death as well. Results: In our data, number of male is more than female(1.75:I). Constituent ratio of age is increasing at 40 years old. Main part of CH is middle age and senility, but CI age is senility. Constituent ratio of each disease is following :CI 67.74%, CH 22.13%, CT 6.06%, SAH 3.79% respectlvly. The rank order of death in CVD is third later in cardiovascular diseases and tumors. Conclusions: Our materials revealsed that it is improtant that intensiv′e care and treatment group in pead population of CVD and prevention high risk facters of CVD and health care education

  2. Distinguishing between statistical significance and practical/clinical meaningfulness using statistical inference.

    Science.gov (United States)

    Wilkinson, Michael

    2014-03-01

    Decisions about support for predictions of theories in light of data are made using statistical inference. The dominant approach in sport and exercise science is the Neyman-Pearson (N-P) significance-testing approach. When applied correctly it provides a reliable procedure for making dichotomous decisions for accepting or rejecting zero-effect null hypotheses with known and controlled long-run error rates. Type I and type II error rates must be specified in advance and the latter controlled by conducting an a priori sample size calculation. The N-P approach does not provide the probability of hypotheses or indicate the strength of support for hypotheses in light of data, yet many scientists believe it does. Outcomes of analyses allow conclusions only about the existence of non-zero effects, and provide no information about the likely size of true effects or their practical/clinical value. Bayesian inference can show how much support data provide for different hypotheses, and how personal convictions should be altered in light of data, but the approach is complicated by formulating probability distributions about prior subjective estimates of population effects. A pragmatic solution is magnitude-based inference, which allows scientists to estimate the true magnitude of population effects and how likely they are to exceed an effect magnitude of practical/clinical importance, thereby integrating elements of subjective Bayesian-style thinking. While this approach is gaining acceptance, progress might be hastened if scientists appreciate the shortcomings of traditional N-P null hypothesis significance testing.

  3. Clinical presentation of juvenile Huntington disease

    Directory of Open Access Journals (Sweden)

    Ruocco Heloísa H.

    2006-01-01

    Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

  4. The taxonomy statistic uncovers novel clinical patterns in a population of ischemic stroke patients.

    Directory of Open Access Journals (Sweden)

    Andrzej Tukiendorf

    Full Text Available In this paper, we describe a simple taxonomic approach for clinical data mining elaborated by Marczewski and Steinhaus (M-S, whose performance equals the advanced statistical methodology known as the expectation-maximization (E-M algorithm. We tested these two methods on a cohort of ischemic stroke patients. The comparison of both methods revealed strong agreement. Direct agreement between M-S and E-M classifications reached 83%, while Cohen's coefficient of agreement was κ = 0.766(P < 0.0001. The statistical analysis conducted and the outcomes obtained in this paper revealed novel clinical patterns in ischemic stroke patients. The aim of the study was to evaluate the clinical usefulness of Marczewski-Steinhaus' taxonomic approach as a tool for the detection of novel patterns of data in ischemic stroke patients and the prediction of disease outcome. In terms of the identification of fairly frequent types of stroke patients using their age, National Institutes of Health Stroke Scale (NIHSS, and diabetes mellitus (DM status, when dealing with rough characteristics of patients, four particular types of patients are recognized, which cannot be identified by means of routine clinical methods. Following the obtained taxonomical outcomes, the strong correlation between the health status at moment of admission to emergency department (ED and the subsequent recovery of patients is established. Moreover, popularization and simplification of the ideas of advanced mathematicians may provide an unconventional explorative platform for clinical problems.

  5. Clinical characteristics of caroli's disease

    Institute of Scientific and Technical Information of China (English)

    Ozlem Yonem; Yusuf Bayraktar

    2007-01-01

    Caroli's disease is a rare congenital condition characterized by non-obstructive saccular or fusiform dilatation of larger intrahepatic bile ducts. Cholangitis,liver cirrhosis, and cholangiocarcinoma are its potential complications. The diagnosis of Caroli's disease depends on demonstrating that the cystic lesions are in continuity with the biliary tree which can be showed by ultrasonography, computerized tomography, endoscopic retrograde cholangiopancreatography, percutaneous transhepatic cholangiography or magnetic resonance cholangiopancreatography. Treatment of Caroli's disease relies on the location of the biliary abnormalities. While localized forms confined to one lobe can be treated with surgery, liver transplantation is the only effective modality for diffuse forms. Although a rare disorder;Caroli's disease should always be considered in the differential diagnosis of chronic cholestasis of unknown cause.

  6. Autoimmune Inner Ear Disease- A Clinical Viewpoint

    Directory of Open Access Journals (Sweden)

    Amirala Khalessi

    2010-10-01

    Full Text Available Recent developments in medicine have given us a better insight into a group of disorders known as autoimmune diseases. In particular, advances have occurred in our understanding of the Autoimmune Inner Ear Disease (AIED. In this article, the authors review the different postulated theories in the pathogenesis of this disease. The clinical presentation, the available para-clinical diagnostic tools, and the important differential diagnoses will be summarized. The management methods, including steroid therapy, immunosuppressive medications, other biological agents and intra-tympanic injections, will be addressed. Cochlear implantation as a final solution to the advanced stages of the disease, causing total deafness, will also be discussed.

  7. Clinical update in sexually transmitted diseases-2014.

    Science.gov (United States)

    Fanfair, Robyn Neblett; Workowski, Kimberly A

    2014-02-01

    Sexually transmitted diseases (STDs) and their associated syndromes are extremely common in clinical practice. Early diagnosis, appropriate treatment, and partner management are important to ensure sexual, physical, and reproductive health in our patients.

  8. Huntington's disease: clinical characteristics, pathogenesis and therapies.

    Science.gov (United States)

    Nakamura, Ken; Aminoff, Michael J

    2007-02-01

    Huntington's disease is a devastating disorder with no known cure. The disease results from an expanded sequence of CAG repeats in the huntingtin gene and leads to a movement disorder with associated cognitive and systemic deficits. Huntington's disease is diagnosed by genetic testing and disease progression can be followed with a variety of imaging modalities. The accumulation of aggregated huntingtin with associated striatal degeneration is evident at autopsy. The pathophysiology of Huntington's disease remains unknown, although protein aggregation, excitotoxicity, deficits in energy metabolism, transcriptional dysregulation and apoptosis may all be involved. Current pharmacologic therapy for Huntington's disease is limited and exclusively symptomatic. However, the disease is being heavily researched, and a wide range of disease-modifying therapies is currently under development. The efficacy of these therapies is being evaluated in transgenic models of Huntington's disease and in preliminary clinical trials.

  9. Clinical subgroups in bilateral Meniere disease

    OpenAIRE

    2016-01-01

    Meniere disease (MD) is a heterogeneous clinical condition characterized by sensorineural hearing loss, episodic vestibular symptoms and tinnitus associated with several comorbidities such as migraine or autoimmune disorders (AD). The frequency of bilateral involvement may range from 5-50% and it depends on the duration of the disease. We have performed a two-step cluster analysis in 398 patients with bilateral MD to identify the best predictors to define clinical subgroups with a potential d...

  10. Hispanics/Latinos & Cardiovascular Disease: Statistical Fact Sheet

    Science.gov (United States)

    ... statistics or any points made in the 2013 Statistical Update, please contact the American Heart Association National Center, Office of Science & Medicine at statistics@ heart. org. Please direct all media ...

  11. Bridging clinical investigators and statisticians: writing the statistical methodology for a research proposal.

    Science.gov (United States)

    Adams-Huet, Beverley; Ahn, Chul

    2009-12-01

    Clinical investigators often find the thought of writing the statistical analysis plan daunting. Early collaboration between the clinical investigator and statistician can improve the study design and validity of the results by developing the statistical methodology that specifically addresses the research hypothesis. With the clinical investigator, a statistician often writes the statistical methods section that includes sample size and power analyses, randomization and blinding procedures, interim analysis, and data monitoring plans, in addition to the statistical analysis plan. To make this process less mysterious, we describe how the statistical methods section is developed in collaboration with a statistician.

  12. Making sense of noninferiority: a clinical and statistical perspective on its application to cardiovascular clinical trials.

    Science.gov (United States)

    Kaul, Sanjay; Diamond, George A

    2007-01-01

    Active control noninferiority trials are being used with increasing frequency in new drug or device development when standard placebo-controlled trials are considered unethical. Nevertheless, the design and analysis of these trials are founded on a number of assumptions and arbitrary criteria that are generally not well understood or justifiable. Trials designed to show noninferiority require an appropriate reference population, a proven active control and dose, an appropriate margin of noninferiority that is clinically relevant and statistically justifiable, a high level of adherence to treatment, and adequate statistical power to reliably conclude that a treatment is truly noninferior and therefore effective. Accordingly, if noninferiority trials are to be applied to clinical and regulatory decisions regarding the marketing and use of new treatments, the assumptions must be made explicit and their influence on the resultant conclusions must be assessed rigorously. When conservative criteria were applied to each of the key assumptions underlying 2 representative noninferiority trials, they materially undermined the conclusions regarding noninferiority failing to confirm reported conclusions regarding noninferiority despite enthusiastic dissemination and acceptance of the results. Because the clinical, regulatory, and economic impact of active control noninferiority trials is substantial, robust criteria should be used routinely in their design, analysis, and interpretation to reach their intended objectives and to keep them from becoming wasted efforts.

  13. Clinical presentation of adult coeliac disease.

    LENUS (Irish Health Repository)

    Tajuddin, T

    2012-02-01

    The mode of presentation of coeliac disease has been changing to more atypical or silent disease. Few studies described the clinical presentation of adult coeliac disease in Ireland in recent years. We retrospectively collected the clinical data for all patients who had a diagnosis of coeliac disease made in our centre between January 07 and December 08. Forty seven adults, predominantly females (n = 30), had a confirmed diagnosis of coeliac disease made during the study period. In our patient cohort, the presenting symptom was diarrhoea in 19 (40%) patients, while 16 patients (34%) did not have any G.I. symptoms, 10 (21%) presented with anaemia. Females presented at a significantly younger age compared to males, with median ages at diagnosis of 44.5 and 57 years, respectively (p = 0.04). Females also presented more commonly with non G.I. symptoms (p = 0.07). The reasons behind this gender difference need further study.

  14. [Clinical aspects of the Niigata Minamata disease].

    Science.gov (United States)

    Shimohata, Takayoshi; Hirota, Koichi; Takahashi, Hitoshi; Nishizawa, Masatoyo

    2015-01-01

    The Minamata disease was discovered in the Minamata region, Kumamoto Prefecture, Japan, in 1956. Symptoms of this disease included cerebellar ataxia, sensory disturbance, narrowing of the visual field, and hearing and speech disturbances. In 1965, similar conditions were identified in persons living around the Agano River area, Niigata Prefecture, Japan and accordingly termed as the Niigata Minamata disease or the second Minamata disease. Both the diseases have been attributed to poisoning with methyl mercury that was generated during the production of acetaldehyde using mercury as a catalyst. The discharged methyl mercury accumulated in fishes and shellfishes and caused poisoning on consumption. This review discusses the history, clinical presentation including atypical forms, and autopsy findings of the Niigata Minamata disease. In addition, it highlights the problems about criteria for official recognition and the therapeutic trial for this disease.

  15. Statistics

    CERN Document Server

    Hayslett, H T

    1991-01-01

    Statistics covers the basic principles of Statistics. The book starts by tackling the importance and the two kinds of statistics; the presentation of sample data; the definition, illustration and explanation of several measures of location; and the measures of variation. The text then discusses elementary probability, the normal distribution and the normal approximation to the binomial. Testing of statistical hypotheses and tests of hypotheses about the theoretical proportion of successes in a binomial population and about the theoretical mean of a normal population are explained. The text the

  16. [Lyme disease--clinical manifestations and treatment].

    Science.gov (United States)

    Stock, Ingo

    2016-05-01

    Lyme disease (Lyme borreliosis) is a systemic infectious disease that can present in a variety of clinical manifestations. The disease is caused by a group of spirochaetes--Borrelia burgdorferi sensu lato or Lyme borrelia--that are transmitted to humans by the bite of Ixodes ticks. Lyme disease is the most common arthropode-borne infectious disease in many European countries including Germany. Early localized infection is typically manifested by an erythema migrans skin lesion, in rarer cases as a borrelial lymphocytoma. The most common early disseminated manifestation is (early) neuroborreliosis. In adults, neuroborreliosis appears typically as meningoradiculoneuritis. Neuroborreliosis in children, however, is typically manifested by meningitis. In addition, multiple erythema migrans lesions and Lyme carditis occur relatively frequently. The most common manifestation oflate Lyme disease is Lyme arthritis. Early manifestations (and usually also late manifestations) of Lyme disease can be treated successfully by application of suitable antibacterial agents. For the treatment of Lyme disease, doxycycline, certain penicillins such as amoxicillin and some cephalosporins (ceftriaxone, cefotaxime, cefuroxime axetil) are recommended in current guidelines. A major challenge is the treatment of chronic, non-specific disorders, i. e., posttreatment Lyme disease syndrome and "chronic Lyme disease". Prevention of Lyme disease is mainly accomplished by protecting against tick bites. Prophylactic administration of doxycycline after tick bites is generally not recommended in Germany. There is no vaccine available for human beings.

  17. ["Ledderhose" disease. Plantar fibromatosis--clinical aspects].

    Science.gov (United States)

    Parnitzke, B; Decker, O; Neumann, U

    1991-01-01

    The Ledderhose's diseases is a relatively rare and not well known clinical picture. Even there are tight pathomorphological and clinical relations to the Dupuytren's contracture, the genesis is also here quite unknown. Because of inefficiency of conventional therapy the surgical treatment is the only alternative. On the sample of 12 operations in 7 patients from 1979 to 1989 surgical procedure and long-term results are discussed.

  18. Age, CAG repeat length, and clinical progression in Huntington's disease.

    Science.gov (United States)

    Rosenblatt, Adam; Kumar, Brahma V; Mo, Alisa; Welsh, Claire S; Margolis, Russell L; Ross, Christopher A

    2012-02-01

    The objective of this study was to further explore the effect of CAG repeat length on the rate of clinical progression in patients with Huntington's disease. The dataset included records for 569 subjects followed prospectively at the Baltimore Huntington's Disease Center. Participants were seen for a mean of 7.1 visits, with a mean follow-up of 8.2 years. Subjects were evaluated using the Quantified Neurologic Examination and its Motor Impairment subscale, the Mini-Mental State Examination, and the Huntington's disease Activities of Daily Living Scale. By itself, CAG repeat length showed a statistically significant but small effect on the progression of all clinical measures. Contrary to our previous expectations, controlling for age of onset increased the correlation between CAG repeat length and progression of all variables by 69% to 159%. Graphical models further supported the idea that individuals with smaller triplet expansions experience a more gradual decline. CAG repeat length becomes an important determinant of clinical prognosis when accounting for age of onset. This suggests that the aging process itself influences clinical outcomes in Huntington's disease. Inconsistent results in prior studies examining CAG repeat length and progression may indeed reflect a lack of age adjustment.

  19. Statistics

    Science.gov (United States)

    Links to sources of cancer-related statistics, including the Surveillance, Epidemiology and End Results (SEER) Program, SEER-Medicare datasets, cancer survivor prevalence data, and the Cancer Trends Progress Report.

  20. The power and statistical behaviour of allele-sharing statistics when applied to models with two disease loci

    Indian Academy of Sciences (India)

    Yin Y. Shugart; Bing-Jian Feng; Andrew Collins

    2002-11-01

    We have evaluated the power for detecting a common trait determined by two loci, using seven statistics, of which five are implemented in the computer program SimWalk2, and two are implemented in GENEHUNTER. Unlike most previous reports which involve evaluations of the power of allele-sharing statistics for a single disease locus, we have used a simulated data set of general pedigrees in which a two-locus disease is segregating and evaluated several non-parametric linkage statistics implemented in the two programs. We found that the power for detecting linkage using the $S_{\\text{all}}$ statistic in GENEHUNTER (GH, version 2.1), implemented as statistic in SimWalk2 (version 2.82), is different in the two. The values associated with statistic output by SimWalk2 are consistently more conservative than those from GENEHUNTER except when the underlying model includes heterogeneity at a level of 50% where the values output are very comparable. On the other hand, when the thresholds are determined empirically under the null hypothesis, $S_{\\text{all}}$ in GENEHUNTER and statistic have similar power.

  1. CLINICAL STUDY OF HEART DISEASE COMPLICATING PREGNANCY

    Directory of Open Access Journals (Sweden)

    Richa

    2014-07-01

    Full Text Available Introduction-Heart disease complicating pregnancy is considered as a high risk situation. Increased cardiac demands during the course of pregnancy potentially increase morbidity and mortality in women with underlying heart disease. AIM: To determine maternal and fetal outcome in women with heart disease complicating pregnancy, To emphasize on proper protocol for managing pregnancy complicated by heart disease, To correlate the time of booking & NYHA grading with maternal & fetal outcome. Risk of adverse outcome is more in rural population as compared to its urban counterpart. METHOD: A prospective clinical study of 25 cases of pregnancy complicated by heart disease, reporting to tertiary care hospital for delivery, was carried out to find out the incidence and maternal and fetal outcome. RESULTS: The incidence of heart disease in pregnancy in the present study was 0.6%. Most of the women (91% belonged to low socioeconomic class in the rural population. Rheumatic heart lesions constituted 77% of the cases. Mitral stenosis was the commonest lesion in 40% of cases. Ten (40% women delivered spontaneously vaginally at term. Cesarean section was performed in 14 cases (56%. There were 5 maternal deaths. There were no perinatal deaths. CONCLUSION: Early diagnosis of heart disease, regular antenatal check-up, institutional delivery, limiting family size can reduce the maternal and perinatal mortality and morbidity associated with heart disease

  2. Smart Technology in Lung Disease Clinical Trials.

    Science.gov (United States)

    Geller, Nancy L; Kim, Dong-Yun; Tian, Xin

    2016-01-01

    This article describes the use of smart technology by investigators and patients to facilitate lung disease clinical trials and make them less costly and more efficient. By "smart technology" we include various electronic media, such as computer databases, the Internet, and mobile devices. We first describe the use of electronic health records for identifying potential subjects and then discuss electronic informed consent. We give several examples of using the Internet and mobile technology in clinical trials. Interventions have been delivered via the World Wide Web or via mobile devices, and both have been used to collect outcome data. We discuss examples of new electronic devices that recently have been introduced to collect health data. While use of smart technology in clinical trials is an exciting development, comparison with similar interventions applied in a conventional manner is still in its infancy. We discuss advantages and disadvantages of using this omnipresent, powerful tool in clinical trials, as well as directions for future research.

  3. USING KRIGING FOR STATISTICAL DISEASE MAPPING OF PULMONARY TUBERCULOSIS

    Directory of Open Access Journals (Sweden)

    M MOHAMMAD ZADE

    2003-06-01

    Full Text Available Introduction: The map of diseases is usually constructed using the information from diseases incidnce in some regions. Some factors, such as measurment error and rapid variation of diseases rates in different regions make maps so wiggly that their interpretation becomes difficult. Therefore these maps must be smoothed using statisical methods. Methods: Since disease rates of different regions reflect an spatial correlation structure, in this paper the spatial correlation structure of data is specified by fitting a variogram model, then kriging as a best linear unbiased prediction method is used to make a smooth map of diseases. Results: The tuberculosis incidence rates of 262 counties of Iran are used to demonstrate the application and accuracy of the diseases mapping method presented in this paper. The smoothing map of tuberculosis disease, obtained by kriging method shows the geographical trend of the disease in Iran. In this map, central and western regions of Iran have minimum incidence rates, and it gradually increases toward the eastern boundaries. Discussion: The object of this article is introducing kriging method for disease mapping and tuberculosis disease is used to demonstrate the application of this method. There is on dubt that the numerical results of prediction and mapping can be affected by undercount in the smir positive (S + tuberculosis data, which are gathered by the office for campaigning against diseases. However this method has a wide application in different areas of medical sciences. such as geographical epidemiology of diseases, environmental health and environmental engineering.

  4. Clinical features of subacute course of radiation disease

    Directory of Open Access Journals (Sweden)

    Krasnyuk V.I.

    2014-12-01

    Full Text Available Aim: to show the clinical features of subacute course of subacute course of radiation disease and how they differ from the typical manifestations of acute and chronic radiation syndrome. Material and methods. Materials of the Burnasyan Federal Medical and Biophysical Center Register of acute radiation disease (ARS in the Former USSR and Russia and Materials of a Burnasyan Federal Medical and Biophysical Center database of workers "Mayak" with chronic radiation syndrome (CRS were analyzed. There were selected 22 patients with radiation syndrome due to fractionated or prolonged accidental exposure (the main group of patients. There were formed two subgroups for comparison: patients with a typical marrowy syndrome of acute radiation disease and with chronic radiation syndrome. Statistical analysis of results was made by means of statistical software package Statistica v. 6.1 for Windows (StatSoft Inc., USA and Microsoft Excel 2010. Results. It was found that subacute course of radiation syndrome is possible under radiation exposure with medium dose rate in the range of 0.1-0.3 Gy/day Early symptoms of the disease as a primary reaction symptoms are completely absent. First complaints appeared in the earliest one month after the start of work in adverse conditions, on the average 6 months. In the period of formation there is a pancytopenia in the peripheral blood. Duration of the formation period was also determined. In this case radiation cataracts in patients are not observed. After the termination of radiation exposure hematopoietic recovery is slow, possibly incomplete with a high probability of hemoblastosis development. Conclusions. There has been described the subacute course of radiation disease by analyzing the clinical material of patients with radiation syndrome, there has been analyzed the clinical criteria that distinguish subacute radiation syndrome from acute and chronic.

  5. National Vital Statistics System (NVSS) - National Cardiovascular Disease Surveillance Data

    Data.gov (United States)

    U.S. Department of Health & Human Services — 2001 to 2013. NVSS is a secure, web-based data management system that collects and disseminates the Nation's official vital statistics. Data for this dataset has...

  6. Statistical Analysis of Clinical Data on a Pocket Calculator, Part 2 Statistics on a Pocket Calculator, Part 2

    CERN Document Server

    Cleophas, Ton J

    2012-01-01

    The first part of this title contained all statistical tests relevant to starting clinical investigations, and included tests for continuous and binary data, power, sample size, multiple testing, variability, confounding, interaction, and reliability. The current part 2 of this title reviews methods for handling missing data, manipulated data, multiple confounders, predictions beyond observation, uncertainty of diagnostic tests, and the problems of outliers. Also robust tests, non-linear modeling , goodness of fit testing, Bhatacharya models, item response modeling, superiority testing, variab

  7. COMPLEX CLINICAL-STATISTICAL ANALYSIS OF THE LOCOMOTOR SYSTEM TRAUMAS

    Directory of Open Access Journals (Sweden)

    I. V. Grechukhin

    2011-01-01

    Full Text Available Complex clinico-statistical study of the rate, structure, dynamics and conditions of the locomotor apparatus traumas in ambulatoris patients (82207 children, 20351adolescents and 293798 adults, hospitalized ones (2359 children and 5796 adults and 439 died during 1998-2008 in Astrakhan has been cassied out. Age – sex groups of highes risk in getting traumas, most of whom are in the household and in streets under falling, due to antilaw actions and accidents have been formed. Possibility of getting injuries for adults increases in January and July, for children – in May and September, for adolescents – in April and October. Wide range of modem computer and telecommunication technologies as the new forms of preventive activity should be recommended.

  8. Clinical subgroups in bilateral Meniere disease

    Directory of Open Access Journals (Sweden)

    Lidia Frejo

    2016-10-01

    Full Text Available Meniere disease (MD is a heterogeneous clinical condition characterized by sensorineural hearing loss, episodic vestibular symptoms and tinnitus associated with several comorbidities such as migraine or autoimmune disorders (AD. The frequency of bilateral involvement may range from 5-50% and it depends on the duration of the disease. We have performed a two-step cluster analysis in 398 patients with bilateral MD to identify the best predictors to define clinical subgroups with a potential different etiology to improve the phenotyping of bilateral MD and to develop new treatments. We have defined five clinical variants in bilateral MD. Group 1 is the most frequently found, includes 46% of patients, and is defined by metachronic hearing loss without migraine and without AD. Group 2 is found in 17% of patients, and it is defined by synchronic hearing loss without migraine or AD. Group 3, with 13% of patients, is characterized by familial MD, while group 4, that includes 12% of patients, is associated by the presence of migraine in all cases. Group 5 is found in 11% of patients and is defined by AD. This approach can be helpful in selecting patients for genetic and clinical research. However, further studies will be required to improve the phenotyping in these clinical variants for a better understanding of the diverse etiological factors contributing to bilateral MD.

  9. Clinical Subgroups in Bilateral Meniere Disease

    Science.gov (United States)

    Frejo, Lidia; Soto-Varela, Andres; Santos-Perez, Sofía; Aran, Ismael; Batuecas-Caletrio, Angel; Perez-Guillen, Vanesa; Perez-Garrigues, Herminio; Fraile, Jesus; Martin-Sanz, Eduardo; Tapia, Maria C.; Trinidad, Gabriel; García-Arumi, Ana María; González-Aguado, Rocío; Espinosa-Sanchez, Juan M.; Marques, Pedro; Perez, Paz; Benitez, Jesus; Lopez-Escamez, Jose A.

    2016-01-01

    Meniere disease (MD) is a heterogeneous clinical condition characterized by sensorineural hearing loss, episodic vestibular symptoms, and tinnitus associated with several comorbidities, such as migraine or autoimmune disorders (AD). The frequency of bilateral involvement may range from 5 to 50%, and it depends on the duration of the disease. We have performed a two-step cluster analysis in 398 patients with bilateral MD (BMD) to identify the best predictors to define clinical subgroups with a potential different etiology to improve the phenotyping of BMD and to develop new treatments. We have defined five clinical variants in BMD. Group 1 is the most frequently found, includes 46% of patients, and is defined by metachronic hearing loss without migraine and without AD. Group 2 is found in 17% of patients, and it is defined by synchronic hearing loss without migraine or AD. Group 3, with 13% of patients, is characterized by familial MD, while group 4, that includes 12% of patients, is associated by the presence of migraine in all cases. Group 5 is found in 11% of patients and is defined by AD. This approach can be helpful in selecting patients for genetic and clinical research. However, further studies will be required to improve the phenotyping in these clinical variants for a better understanding of the diverse etiological factors contributing to BMD. PMID:27822199

  10. Clinical significance of feline heartworm disease.

    Science.gov (United States)

    Dillon, R

    1998-11-01

    The clinical signs and diagnostic approach are different in the cat as compared with the dog, which has impaired the veterinarian's ability to detect this parasite in the cat. New techniques and methodologies have enabled the cat owner and veterinarian to recognize this potentially severe disease. Although much is now known about the pathophysiology and biology of this parasite in the cat, the practical application and rapid development of this information to daily practice has led to confusion.

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

    Directory of Open Access Journals (Sweden)

    Chitra Lele

    2017-01-01

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

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

    Science.gov (United States)

    Lele, Chitra

    2017-01-01

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

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

    Science.gov (United States)

    Lele, Chitra

    2017-01-01

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

  14. A flexibly shaped space-time scan statistic for disease outbreak detection and monitoring

    Directory of Open Access Journals (Sweden)

    Tango Toshiro

    2008-04-01

    Full Text Available Abstract Background Early detection of disease outbreaks enables public health officials to implement disease control and prevention measures at the earliest possible time. A time periodic geographical disease surveillance system based on a cylindrical space-time scan statistic has been used extensively for disease surveillance along with the SaTScan software. In the purely spatial setting, many different methods have been proposed to detect spatial disease clusters. In particular, some spatial scan statistics are aimed at detecting irregularly shaped clusters which may not be detected by the circular spatial scan statistic. Results Based on the flexible purely spatial scan statistic, we propose a flexibly shaped space-time scan statistic for early detection of disease outbreaks. The performance of the proposed space-time scan statistic is compared with that of the cylindrical scan statistic using benchmark data. In order to compare their performances, we have developed a space-time power distribution by extending the purely spatial bivariate power distribution. Daily syndromic surveillance data in Massachusetts, USA, are used to illustrate the proposed test statistic. Conclusion The flexible space-time scan statistic is well suited for detecting and monitoring disease outbreaks in irregularly shaped areas.

  15. Nosocomial Legionnaires’ Disease: Clinical and Radiographic Patterns

    Directory of Open Access Journals (Sweden)

    Thomas J Marrie

    1992-01-01

    Full Text Available From 1981 to 1991, 55 patients (33 males, 22 females, mean age 58.6 years with nosocomial Legionnaires’ disease were studied. The mortality rate was 64%. One-half of the patients developed nosocomial Legionnaires’ disease within three weeks of admission. A surprising clinical feature was the low rate of findings of consolidation on physical examination, despite the fact that 52% of patients had this finding on chest radiograph. More than one-half of patients had pre-existing lung disease, rendering a radiographic diagnosis of pneumonia due to Legionella pneumophila impossible in 16% of cases despite microbiological confirmation. Nineteen per cent of patients who had blood cultures done had a pathogen other than L pneumophila isolated, suggesting dual infection in at least some of the patients. When the clinical and radiographic findings were combined it was noted that 40% of patients had one of three patterns suggestive of nosocomial Legionnaires’ disease: rapidly progressive pneumonia, lobar opacity and multiple peripheral opacities. However, in 60% of patients there were no distinctive features.

  16. Monogenic autoinflammatory diseases: concept and clinical manifestations.

    Science.gov (United States)

    Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela

    2013-06-01

    The objective of this review is to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) and 6. very rare conditions presenting with autoinflammation and immunodeficiency.

  17. 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.

  18. International conference on harmonisation; guidance on statistical principles for clinical trials; availability--FDA. Notice.

    Science.gov (United States)

    1998-09-16

    The Food and Drug Administration (FDA) is publishing a guidance entitled "E9 Statistical Principles for Clinical Trials." The guidance was prepared under the auspices of the International Conference on Harmonisation of Technical Requirements for Registration of Pharmaceuticals for Human Use (ICH). The guidance is intended to provide recommendations to sponsors and scientific experts regarding statistical principles and methodology which, when applied to clinical trials for marketing applications, will facilitate the general acceptance of analyses and conclusions drawn from the trials.

  19. Teaching Statistics in APA-Accredited Doctoral Programs in Clinical and Counseling Psychology: A Syllabi Review

    Science.gov (United States)

    Ord, Anna S.; Ripley, Jennifer S.; Hook, Joshua; Erspamer, Tiffany

    2016-01-01

    Although statistical methods and research design are crucial areas of competency for psychologists, few studies explore how statistics are taught across doctoral programs in psychology in the United States. The present study examined 153 American Psychological Association-accredited doctoral programs in clinical and counseling psychology and aimed…

  20. Should I Pack My Umbrella? Clinical versus Statistical Prediction of Mental Health Decisions

    Science.gov (United States)

    Aegisdottir, Stefania; Spengler, Paul M.; White, Michael J.

    2006-01-01

    In this rejoinder, the authors respond to the insightful commentary of Strohmer and Arm, Chwalisz, and Hilton, Harris, and Rice about the meta-analysis on statistical versus clinical prediction techniques for mental health judgments. The authors address issues including the availability of statistical prediction techniques for real-life psychology…

  1. Chronic Obstructive Pulmonary Disease (COPD): Data and Statistics

    Science.gov (United States)

    ... about the Work-Related Lung Disease Surveillance System . COPD Death Rates in the United States Printable Version [ ... 100,000 in 2010). Printable Version [PDF 137kb] COPD Prevalence in the United States Printable Version [PDF ...

  2. Clinical neurorestorative progress in Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Chen L

    2015-06-01

    Full Text Available Lin Chen,1,2 Hongyun Huang,3–5 Wei-Ming Duan,6 Gengsheng Mao3 1Department of Neurosurgery, Yuquan Hospital, Tsinghua University, 2Department of Neurosurgery, Medical Center, Tsinghua University, 3Department of Neurosurgery, General Hospital of Chinese People's Armed Police Forces, 4Center of Cell Research, Beijing Rehabilitation Hospital of Capital Medical University, 5Beijing Hongtianji Neuroscience Academy, 6Department of Anatomy, Capital Medical University, Beijing, People's Republic of China Abstract: Parkinson’s disease (PD is one of the common neurodegenerative diseases. Besides the symptomatic therapies, the increasing numbers of neurorestorative therapies have shown the potential therapeutic value of reversing the neurodegenerative process and improving the patient's quality of life. Currrently available novel clinical neurorestorative strategies include pharmacological managements (glial cell-line derived neurotrophic factor, selegiline, recombinant human erythropoietin, neuromodulation intervention (deep brain stimulation, repetitive transcranial magnetic stimulation, transcranial direct current stimulation, tissue and cell transplantation (fetal ventral mesencephalic tissue, sympathetic neurons, carotid body cells, bone marrow stromal cells, retinal pigment epithelium cells, gene therapy, and neurorehabilitative therapy. Herein, we briefly review the progress in this field and describe the neurorestorative mechanisms of the above-mentioned therapies for PD. Keywords: Parkinson’s disease, clinical study, neurorestorative treatment, cell transplantation, neuromodulation

  3. Advanced and controlled drug delivery systems in clinical disease management

    NARCIS (Netherlands)

    Brouwers, JRBJ

    1996-01-01

    Advanced and controlled drug delivery systems are important for clinical disease management. In this review the most important new systems which have reached clinical application are highlighted. Microbiologically controlled drug delivery is important for gastrointestinal diseases like ulcerative co

  4. A statistical study of the maxillofacial diseases by radiograms

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Yoo Tai; Lee, Sang Chull [College of Dentistry, Kyunghee University, Seoul (Korea, Republic of)

    1974-11-15

    This report based on 300 cases of serious diseases in maxillofacial region by radiograms seen at the department of dental radiodontics, infirmary school of dentistry, Kyung Hee University from October 1971 to August 1974. The maxillofacial diseases were analysed upon the following items, such as 1) the frequency of dominant diseases, 2) sex-ratio of male to female, 3) predominant region of diseases, 4) comparison with the age, 5) the incidence of diseases in relative to the individual teeth. The results were obtained as follows. 1) Among the total of 300 cases of the patients, the frequency of dominant diseases of patients were fractures of facial bone (44.3 {+-} 2.87%), inflammatory diseases (22.7 {+-} 2.39%), cysts (11.1 {+-} 1.62%), tumors(10.7 {+-} 1.77%), maxillary sinusitis (7.9 {+-} 1.56%), temporomandibular joint disorders(3.3 {+-} 1.05%) in the order. 2) The sex ratio of male to female in occurrence of jaw fractures were 7.3 : 1, temporomandibular joint disorders were 2.1 : 1, inflammatory diseases were 1.8:1, maxillary sinusitis were 1.7 : 1, but tumors were 1: 1, while cysts were 1:1 .2 in sex difference.3) The predominant region of mandibular fractures were symphysis (17.3 {+-} 3.27%), canine region (15.0 {+-} 3.09%), and angle region(14.3 {+-} 3.04%) in the order. Inflammatory diseases were occurred frequently in mandible and it's left side were a little dominant. Odontogenic cysts were observed frequently in maxilla, but regardless of right and left. Carcinomas were involved most frequently in maxilla, while sarcomas and ameloblastomas in mandible. Frequency of the maxillary sinusitis w ere dominant in right side and molar area, also temporomandibular joint disorders were dominant in right side. 4) To study comparing with the age, jaw fractures showed the highest ratio at the 2nd decade (32.3 {+-} 4.06%), and 3rd decade (27.8 {+-} 3.89%), 4th decade (19.6 {+-} 3.44%), 6th decade (9.0 {+-} 2.47%), 5th decade(6.0 {+-} 2.06%), lst decade(5.3 {+-} 1

  5. Statistical Model for Prediction of Diabetic Foot Disease in Type 2 Diabetic Patients

    Directory of Open Access Journals (Sweden)

    Raúl López Fernández

    2016-02-01

    Full Text Available Background: the need to predict and study diabetic foot problems is a critical issue and represents a major medical challenge. The reduction of its incidence can lead to positive results for improving the quality of life of patients and the impact on the socio-economic sphere, due to the high prevalence of diabetes in the working population. Objective: to design a statistical model for prediction of diabetic foot disease in type 2 diabetic patients. Methods: a descriptive study was conducted in patients attending the Diabetes Clinic in Cienfuegos from 2010 to 2013. Significant risk factors for diabetic foot disease were analyzed as variables. To design the model, binary logistic regression analysis and Chi-squared automatic interaction detection decision tree were used. Results: two models that behaved similarly based on the comparison criteria considered (percentage of correct classification, sensitivity and specificity were developed. Validation was established through the receiver operating characteristic curve. The model using Chi-squared automatic interaction detection showed the best predictive results. Conclusions: Chi-squared automatic interaction detection decision trees have an adequate predictive capacity, which can be used in the Diabetes Clinic of Cienfuegos municipality.

  6. Toward Improved Statistical Reporting in the Journal of Consulting and Clinical Psychology

    Science.gov (United States)

    Fidler, Fiona; Cumming, Geoff; Thomason, Neil; Pannuzzo, Dominique; Smith, Julian; Fyffe, Penny; Edmonds, Holly; Harrington, Claire; Schmitt, Rachel

    2005-01-01

    Philip Kendall's (1997) editorial encouraged authors in the Journal of Consulting and Clinical Psychology (JCCP) to report effect sizes and clinical significance. The present authors assessed the influence of that editorial--and other American Psychological Association initiatives to improve statistical practices--by examining 239 JCCP articles…

  7. Clinical Application of Stents in Digestive Diseases

    Institute of Scientific and Technical Information of China (English)

    GUAN Yongsong

    2002-01-01

    Objective To evaluate clinical application of therapeutic stenting of digestive diseases as a new approach from conventional management. Methods 115 cases of disorders in digestive system were managed with stents clinically, 148 procedures of intervention in all. The cases were suffering from portal hypertension of cirrhosis, post - operative esophageal stricture, Stricture resulted from esophageal carcinoma, Buddi - Chari syndrome, narrowing of superior mesentery arteries and biliary tract, etc. All had had the strictured or obliterated original natural tube lumen been dilated or recanalized under the guidance of monitoring of the fluoroscope before the stent placement except those receiving TIPS needing the creation of an artificial passage within the liver to place the stent. Results Therapeutic stenting achieves clinical effects completely different from conventional internal medicine and surgery such as portal hypertension by cirrhosis with esophageal varices, megalospleen, ascites improved; jaundis relived then resided and liver function improved and appetite better in postoperative stricture of bile duct; ascites and edema of lower limbs resided in Buddi - Chari syndrom; intestininal distention disappeared, appetite and digestive function improved in stricture in superior mesentery artery; and no dysphagia and easy food intake, appetite improved in patients of stricture of postoperative esophagus and stricture resulted from esophageal carcinoma. Conclusion Therapeutic stenting is clinically unique, dramatically effective, with minor risks and worthy promoting in the management of certain digestive disorders.

  8. Adult-onset Still's disease: Clinical cases

    Directory of Open Access Journals (Sweden)

    G. R. Imametdinova

    2014-01-01

    Full Text Available The annual incidence of adult-onset Still's disease (AOSD worldwide is 0.16 cases per 100,000 persons. Its leading symptoms are joint involvement, fever, skin rash, and neutrophilic leukocytosis in the absence of rheumatoid factor and anticyclic citrullinated peptide antibodies in serum and synovial fluid. In its initial stage, there may be monoarthritis more commonly of the wrist, hip, or knee. Then the lesion assumes the pattern of oligo- or polyarthritis. Musculoskeletal involvement appearing as arthralgia, arthritis, and myalgia is noted in all patients. In the majority of patients, articular involvement progresses and destructive polyarthritis develops. Symmetric involvement of the carpophalangeal and distal interphalangeal joints is frequently detected. Skin lesion manifests itself as maculopapular or roseolous rashes on the chest, back, shoulders, occasionally on the legs, or in the areas of mechanical irritation. A sore throat with the signs of pharyngitis is a characteristic early symptom of the disease. There may be involvements of the liver, cardiovascular system, lung, as well as lymphadenopathy, or splenomegaly. The chronic course of the disease is more frequently noted.The paper describes two cases of AOSD. One case demonstrates that the physician has no experience in diagnosing and managing patients with AOSD, resulting in the misinterpretation of the increase in disease activity when the subclinical doses of methotrexate (MT are used, which has been regarded as a therapeutic complication. The use of the adequate dose of MT could achieve a clinical and laboratory remission and discontinue glucocorticoids (GC.In the other case of recurrent AOSD and mild clinical symptoms, the unreasonable use of high GC doses gave rise to adverse reactions.

  9. Adult-onset Still's disease: Clinical cases

    Directory of Open Access Journals (Sweden)

    G. R. Imametdinova

    2014-12-01

    Full Text Available The annual incidence of adult-onset Still's disease (AOSD worldwide is 0.16 cases per 100,000 persons. Its leading symptoms are joint involvement, fever, skin rash, and neutrophilic leukocytosis in the absence of rheumatoid factor and anticyclic citrullinated peptide antibodies in serum and synovial fluid. In its initial stage, there may be monoarthritis more commonly of the wrist, hip, or knee. Then the lesion assumes the pattern of oligo- or polyarthritis. Musculoskeletal involvement appearing as arthralgia, arthritis, and myalgia is noted in all patients. In the majority of patients, articular involvement progresses and destructive polyarthritis develops. Symmetric involvement of the carpophalangeal and distal interphalangeal joints is frequently detected. Skin lesion manifests itself as maculopapular or roseolous rashes on the chest, back, shoulders, occasionally on the legs, or in the areas of mechanical irritation. A sore throat with the signs of pharyngitis is a characteristic early symptom of the disease. There may be involvements of the liver, cardiovascular system, lung, as well as lymphadenopathy, or splenomegaly. The chronic course of the disease is more frequently noted.The paper describes two cases of AOSD. One case demonstrates that the physician has no experience in diagnosing and managing patients with AOSD, resulting in the misinterpretation of the increase in disease activity when the subclinical doses of methotrexate (MT are used, which has been regarded as a therapeutic complication. The use of the adequate dose of MT could achieve a clinical and laboratory remission and discontinue glucocorticoids (GC.In the other case of recurrent AOSD and mild clinical symptoms, the unreasonable use of high GC doses gave rise to adverse reactions.

  10. Severe sepsis: are PROWESS and PROWESS-SHOCK trials comparable? A clinical and statistical heterogeneity analysis.

    Science.gov (United States)

    Kalil, Andre C; Florescu, Diana F

    2013-07-04

    Despite the same manufacturer, the same drotrecogin alfa activated dose, and the same placebo-controlled design, the negative result from the PROWESS-SHOCK trial contradicted the survival benefit observed in the PROWESS trial. We hypothesize that the different results were due to factors other than the experimental therapy and performed an analysis of the clinical heterogeneity (differences related to the trials' clinical aspects) and the statistical heterogeneity (differences related to the trials' statistical aspects) between these trials. Baseline characteristics and co-interventions were analyzed by chi-square testing and mortality was analyzed by random-effects modeling and I2. Our findings show that clinical variables presented significant heterogeneity, and that up to 90% of the mortality differences between both trials were not due to chance. These results demonstrate that PROWESS and PROWESS-SHOCK are not comparable trials due to the highly significant clinical and statistical heterogeneity. We propose a new and pragmatic solution.

  11. How to develop, validate, and compare clinical prediction models involving radiological parameters: Study design and statistical methods

    Energy Technology Data Exchange (ETDEWEB)

    Han, Kyung Hwa; Choi, Byoung Wook [Dept. of Radiology, and Research Institute of Radiological Science, Severance Hospital, Yonsei University College of Medicine, Seoul (Korea, Republic of); Song, Ki Jun [Dept. of Biostatistics and Medical Informatics, Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2016-06-15

    Clinical prediction models are developed to calculate estimates of the probability of the presence/occurrence or future course of a particular prognostic or diagnostic outcome from multiple clinical or non-clinical parameters. Radiologic imaging techniques are being developed for accurate detection and early diagnosis of disease, which will eventually affect patient outcomes. Hence, results obtained by radiological means, especially diagnostic imaging, are frequently incorporated into a clinical prediction model as important predictive parameters, and the performance of the prediction model may improve in both diagnostic and prognostic settings. This article explains in a conceptual manner the overall process of developing and validating a clinical prediction model involving radiological parameters in relation to the study design and statistical methods. Collection of a raw dataset; selection of an appropriate statistical model; predictor selection; evaluation of model performance using a calibration plot, Hosmer-Lemeshow test and c-index; internal and external validation; comparison of different models using c-index, net reclassification improvement, and integrated discrimination improvement; and a method to create an easy-to-use prediction score system will be addressed. This article may serve as a practical methodological reference for clinical researchers.

  12. Clinical profiles associated with influenza disease in the ferret model.

    Directory of Open Access Journals (Sweden)

    Gregory V Stark

    Full Text Available Influenza A viruses continue to pose a threat to human health; thus, various vaccines and prophylaxis continue to be developed. Testing of these products requires various animal models including mice, guinea pigs, and ferrets. However, because ferrets are naturally susceptible to infection with human influenza viruses and because the disease state resembles that of human influenza, these animals have been widely used as a model to study influenza virus pathogenesis. In this report, a statistical analysis was performed to evaluate data involving 269 ferrets infected with seasonal influenza, swine influenza, and highly pathogenic avian influenza (HPAI from 16 different studies over a five year period. The aim of the analyses was to better qualify the ferret model by identifying relationships among important animal model parameters (endpoints and variables of interest, which include survival, time-to-death, changes in body temperature and weight, and nasal wash samples containing virus, in addition to significant changes from baseline in selected hematology and clinical chemistry parameters. The results demonstrate that a disease clinical profile, consisting of various changes in the biological parameters tested, is associated with various influenza A infections in ferrets. Additionally, the analysis yielded correlates of protection associated with HPAI disease in ferrets. In all, the results from this study further validate the use of the ferret as a model to study influenza A pathology and to evaluate product efficacy.

  13. [Diverticular disease - clinical patterns and treatment].

    Science.gov (United States)

    Lembcke, Bernhard; Kruis, Wolfgang

    2015-09-01

    Diverticulosis, diverticular disease and diverticulitis have come into focus again because new aspects concerning diagnosis, risk factors and treatment arose only recently which prompted a new Guideline released by the DGVS and DGAV summarising the current evidence. Along with the guideline's essentials for medical practice a diagnosis of diverticulitis is considered unsatisfactory unless a cross-sectional imaging method (either ultrasonography [US] or computed tomography [CT] ) has proven that the clinical findings and inflammation (CRP considered superior to WBC and temperature) are due to diverticular inflammation. For reasons of practicability and considering relevant legislation for radiation exposure protection, US is the primary - and usually effectual - diagnostic method of choice as it is equipotent to CT. While US offers better resolution and enables precise imaging exactly at the location of pain as well as reiterative application, the latter implies advantages in the case of a deep abscess or diverticulitis in difficult locations (e. g. the small pelvis). Clinical evidence and laboratory and imaging findings allow for distinguishing a large number of differential diagnoses and also form the basis of a new classification (classification of diverticular disease, CDD) which comprises all forms of diverticular disease, from diverticulosis to bleeding and to the different facettes of diverticulitis. This classification -which should be applied in any patient with the diagnosis of diverticular disease- is independent of specific diagnostic preferences and applicable both to conservative and operative treatment options. While the number of recurrent episodes is no longer a significant indicator for surgery in diverticulitis, severity and / or complications determine treatment options along with the patients preferences. According to first data, conservative treatment may waive antibiotics under certain circumstances, however they are indispensible in

  14. Statistical, epidemiological and fiscal issues in the evaluation of patients with coronary artery disease.

    Science.gov (United States)

    Hachamovitch, R; Berman, D S; Morise, A P; Diamond, G A

    1996-03-01

    The application of myocardial perfusion scintigraphy to patient care in the era of health care cost containment is a difficult issue. The traditional diagnosis based approach to testing, although effective, is incompletely applied, as evidenced by the number of low likelihood of coronary artery disease patients referred for testing. A prognosis- or risk-based testing approach may be applied to both patients with or without known coronary artery disease by utilizing clinical and scan information to estimate the projected risk of adverse outcomes (cardiac death or myocardial infarction) and planning subsequent patient strategy based upon this estimate. Patients at high risk for these events are more likely to benefit from referral to catheterization while those patients at lower risk may benefit from medical therapy alone. Irrespective of the approach utilized to evaluate testing, consideration of patient population selection and its implications must be considered when reviewing the results of testing or published literature. Further, scrutiny of both the statistical methods used for evaluation of the value of testing and the economic implications of testing in particular patient subgroups are of importance.

  15. Feline heartworm disease: a clinical review.

    Science.gov (United States)

    Litster, Annette L; Atwell, Richard B

    2008-04-01

    Feline heartworm disease is caused by the filarial nematode Dirofilaria immitis, and is transmitted by mosquitoes in heartworm-endemic areas worldwide. While dogs are the definitive hosts for this parasite, cats can also be infected, and the overall prevalence in cats is between 5% and 10% of that in dogs in any given area. The spectrum of feline presentations varies from asymptomatic infections to chronic respiratory signs, sometimes accompanied by chronic vomiting to acute death with no premonitory signs. Ante-mortem diagnosis can be challenging and relies on a combination of tests, including antigen and antibody serology, thoracic radiography and echocardiography. As treatment with heartworm adulticidal drugs can be life-threatening and heartworm infection in cats is often self-limiting, infected cats are frequently managed with supportive treatment (corticosteroids, bronchodilators, and anti-emetics). Surgical removal of filariae using extraction devices may be considered in some acute cases where immediate curative treatment is necessary, but filarial breakage during the procedure may result in an acute fatal shock-like reaction. Necropsy findings are mainly pulmonary and include muscular hypertrophy of the pulmonary arteries and arterioles on histopathology. A number of safe and effective macrocytic lactone drugs are available for prophylaxis in cats. These drugs can kill a range of larval and adult life-cycle stage heartworms, which may be advantageous in cases of owner compliance failure or when heartworm infection status is undetermined at the time prophylaxis is commenced. An index of suspicion for feline heartworm disease is warranted in unprotected cats with respiratory signs, and perhaps chronic vomiting, in areas where canine heartworm disease is endemic. Many cats, once diagnosed and with appropriate supportive care and monitoring, will resolve their infection and be free of clinical signs.

  16. Application of Epidemiology and Statistical methods in understanding disease aetiology-study on Vitiligo.

    Directory of Open Access Journals (Sweden)

    Bharat Bhavsar

    2010-07-01

    Full Text Available The disease results from the interaction between the person’s genetic make up and his outer environment.1 The proportionate role of both the factors varies from disease to disease. There are some diseases with unclear aetiology; Vitiligo is one of them. The purpose of this paper is to show the application of Epidemiology and the statistical methods to understand the disease causation. The epidemiological study of skin conditions among school children in Urban and Rural areas of Surat district carried out by the author 2,3 brought out following observations........

  17. Calcium pyrophosphate deposition disease: clinical manifestations

    Directory of Open Access Journals (Sweden)

    M.A. Cimmino

    2012-01-01

    Full Text Available Calcium pyrophosphate deposition (CPPD disease is an arthropathy caused by calcium pyrophosphate dihydrate (CPP crystal deposits in articular tissues, most commonly fibrocartilage and hyaline cartilage. According to EULAR, four different clinical presentations can be observed: 1 asymptomatic CPPD; 2 osteoarthritis (OA with CPPD; 3 acute CPP crystal arthritis; 4 chronic CPP inflammatory crystal arthritis. Acute CPP crystal arthritis is characterized by sudden onset of pain, swelling and tenderness with overlying erythema, usually in a large joint, most often the knee, wrist, shoulder, and hip. Occasionally, ligaments, tendons, bursae, bone and the spine can be involved. CPPD of the atlanto-occipital joint (crowned dens syndrome can cause periodic acute cervico-occipital pain with fever, neck stiffness and laboratory inflammatory syndrome. Chronic inflammatory arthritis is characterized by joint swelling, morning stiffness, pain, and high ESR and CRP. The relationship between OA and CPPD is still unclear. The main problem is whether such crystals are directly involved in the pathogenesis of OA or if they are the result of joint degeneration. Diagnosis is based on evaluation of history and clinical features, conventional radiology, and synovial fluid examination. Non-polarized light microscopy should be used initially to screen for CPPD crystals based upon their characteristic morphology, and compensated polarized light microscopy, showing the crystals to be weakly positive birefringent, is recommended for definitive identification, although this last pattern only occurs in about 20% of samples. The main goals of CPPD therapy are control of the acute or chronic inflammatory reaction and prevention of further episodes.

  18. Statistical methods to estimate treatment effects from multichannel electroencephalography (EEG) data in clinical trials.

    Science.gov (United States)

    Ma, Junshui; Wang, Shubing; Raubertas, Richard; Svetnik, Vladimir

    2010-07-15

    With the increasing popularity of using electroencephalography (EEG) to reveal the treatment effect in drug development clinical trials, the vast volume and complex nature of EEG data compose an intriguing, but challenging, topic. In this paper the statistical analysis methods recommended by the EEG community, along with methods frequently used in the published literature, are first reviewed. A straightforward adjustment of the existing methods to handle multichannel EEG data is then introduced. In addition, based on the spatial smoothness property of EEG data, a new category of statistical methods is proposed. The new methods use a linear combination of low-degree spherical harmonic (SPHARM) basis functions to represent a spatially smoothed version of the EEG data on the scalp, which is close to a sphere in shape. In total, seven statistical methods, including both the existing and the newly proposed methods, are applied to two clinical datasets to compare their power to detect a drug effect. Contrary to the EEG community's recommendation, our results suggest that (1) the nonparametric method does not outperform its parametric counterpart; and (2) including baseline data in the analysis does not always improve the statistical power. In addition, our results recommend that (3) simple paired statistical tests should be avoided due to their poor power; and (4) the proposed spatially smoothed methods perform better than their unsmoothed versions.

  19. Genetic studies in chronic kidney disease: interpretation and clinical applicability.

    Science.gov (United States)

    Witasp, Anna; Nordfors, Louise; Carrero, Juan Jesus; Luttropp, Karin; Lindholm, Bengt; Schalling, Martin; Stenvinkel, Peter

    2012-01-01

    The tools of modern molecular biology are evolving rapidly, resulting in vastly more efficient approaches to illuminating human genetic variations and their effects on common multifactorial disorders such as chronic kidney disease (CKD). Indeed, candidate gene association studies and genome-wide association studies (GWASs) have generated novel genetic variants in previously unrecognized biological pathways, highlighting disease mechanisms with a potential role in CKD etiology, morbidity and mortality. Nephrologists now need to find ways to make use of these advancements and meet the increasingly stringent requirements for valid study design, data handling and interpretation of genetic studies. Adding to our prior article in this journal, which introduced the basics of genotype-phenotype association studies in CKD, this second article focuses on how to ascertain robust and reproducible findings by applying adequate methodological and statistical approaches to genotype-phenotype studies in CKD populations. Moreover, this review will briefly discuss genotype-based risk prediction, pharmacotherapy, drug target identification and individualized treatment solutions, specifically highlighting potentially important findings in CKD patients. This increased knowledge will hopefully facilitate the exciting transition from conventional clinical medicine to gene-based medicine. However, before this can be accomplished, unsolved issues regarding the complex human genetic architecture as well technical and clinically oriented obstacles will have to be overcome. Additionally, new policies and standardized risk evaluations for genetic testing in the clinical setting will have to be established to guarantee that CKD patients are provided with high-quality genotype-guided counseling that will help to improve their poor outcomes.

  20. Generalized Likelihood Ratio Statistics and Uncertainty Adjustments in Efficient Adaptive Design of Clinical Trials

    CERN Document Server

    Bartroff, Jay

    2011-01-01

    A new approach to adaptive design of clinical trials is proposed in a general multiparameter exponential family setting, based on generalized likelihood ratio statistics and optimal sequential testing theory. These designs are easy to implement, maintain the prescribed Type I error probability, and are asymptotically efficient. Practical issues involved in clinical trials allowing mid-course adaptation and the large literature on this subject are discussed, and comparisons between the proposed and existing designs are presented in extensive simulation studies of their finite-sample performance, measured in terms of the expected sample size and power functions.

  1. Potential Biomarkers of the Earliest Clinical Stages of Parkinson's Disease.

    Science.gov (United States)

    Alieva, Anelya Kh; Filatova, Elena V; Karabanov, Aleksey V; Illarioshkin, Sergey N; Slominsky, Petr A; Shadrina, Maria I

    2015-01-01

    Parkinson's disease (PD) is a widespread neurodegenerative disorder. Despite the intensive studies of this pathology, in general, the picture of the etiopathogenesis has still not been clarified fully. To understand better the mechanisms underlying the pathogenesis of PD, we analyzed the expression of 10 genes in the peripheral blood of treated and untreated patients with PD. 35 untreated patients with PD and 12 treated patients with Parkinson's disease (Hoehn and Yahr scores 1-2) were studied. An analysis of the mRNA levels of ATP13A2, PARK2, PARK7, PINK1, LRRK2, SNCA, ALDH1A1, PDHB, PPARGC1A, and ZNF746 genes in the peripheral blood of patients was carried out using reverse transcription followed by real-time PCR. A statistically significant and specific increase by more than 1.5-fold in the expression of the ATP13A2, PARK7, and ZNF746 genes was observed in patients with PD. Based on these results, it can be suggested that the upregulation of the mRNA levels of ATP13A2, PARK7, and ZNF746 in untreated patients in the earliest clinical stages can also be observed in the preclinical stages of PD, and that these genes can be considered as potential biomarkers of the preclinical stage of PD.

  2. Mapping gene associations in human mitochondria using clinical disease phenotypes.

    Directory of Open Access Journals (Sweden)

    Curt Scharfe

    2009-04-01

    Full Text Available Nuclear genes encode most mitochondrial proteins, and their mutations cause diverse and debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been recorded, while no standardized catalog exists of the associated clinical phenotypes. Such a catalog would be useful to develop methods to analyze human phenotypic data, to determine genotype-phenotype relations among many genes and diseases, and to support the clinical diagnosis of mitochondrial disorders. Here we establish a clinical phenotype catalog of 174 mitochondrial disease genes and study associations of diseases and genes. Phenotypic features such as clinical signs and symptoms were manually annotated from full-text medical articles and classified based on the hierarchical MeSH ontology. This classification of phenotypic features of each gene allowed for the comparison of diseases between different genes. In turn, we were then able to measure the phenotypic associations of disease genes for which we calculated a quantitative value that is based on their shared phenotypic features. The results showed that genes sharing more similar phenotypes have a stronger tendency for functional interactions, proving the usefulness of phenotype similarity values in disease gene network analysis. We then constructed a functional network of mitochondrial genes and discovered a higher connectivity for non-disease than for disease genes, and a tendency of disease genes to interact with each other. Utilizing these differences, we propose 168 candidate genes that resemble the characteristic interaction patterns of mitochondrial disease genes. Through their network associations, the candidates are further prioritized for the study of specific disorders such as optic neuropathies and Parkinson disease. Most mitochondrial disease phenotypes involve several clinical categories including neurologic, metabolic, and gastrointestinal disorders, which might indicate the effects of gene defects

  3. A CUSUM framework for detection of space-time disease clusters using scan statistics.

    Science.gov (United States)

    Sonesson, Christian

    2007-11-20

    Several methods for timely detection of emerging clusters of diseases have recently been proposed. We focus our attention on one of the most popular types of method; a scan statistic. Different ways of constructing space-time scan statistics based on surveillance theory are presented. We bridge the ideas from space-time disease surveillance, public health surveillance and industrial quality control and show that previously suggested space-time scan statistics methods can be fitted into a general CUSUM framework. Crucial differences between the methods studied are due to different assumptions about the spatial process. An example is the specification of the spatial regions of interest for a possible cluster, another is the increased rate to be detected within a cluster. We evaluate the detection ability of the methods considering the possibility of a cluster emerging at any time during the surveillance period. The methods are applied to the detection of an increased incidence of Tularemia in Sweden.

  4. Variants of cognitive deficiency depending on the clinical characteristics of the disease in patients with paranoid schizophrenia

    Directory of Open Access Journals (Sweden)

    G. G. Lebedeva

    2015-01-01

    Full Text Available Pecific aspects of cognitive impairments in patients with paranoid schizophrenia depending on the clinical characteristics of the disease have been studied. One hundred and thirty patients were examined. A clinico-psychological, experimental psychological and statistical methods were used. Three main types of cognitive deficiency with paranoid schizophrenia, associated with the onset, disease duration, and severity of psychiatric symptomology : 1 long-term course of the disease accompanied by the average level of clinical symptomology associated with abnormal attention and visuospatial functions; 2 late onset of the disease and unexpressed clinical symptomology combined with memory impairments; 3 acute onset and early age combined with the absence of cognitive impairments.

  5. Wilson disease : from clinical to molecular

    NARCIS (Netherlands)

    Houwen, Roderick Henk Johan

    1991-01-01

    Wilson disease is an autosomal recessive copper storage disease. It is characterized by an inability of the liver to; excrete copper into bile and to incorporate copper into ceruloplasmin. This results in a gradual accumulation of copper in the liver and subsequently in the brain and other organs, I

  6. Liver involvement in Gaucher disease - Review and clinical approach.

    Science.gov (United States)

    Adar, Tomer; Ilan, Yaron; Elstein, Deborah; Zimran, Ari

    2016-10-19

    Gaucher disease (GD), one of the most prevalent lysosomal storage diseases, is associated with glucocerebroside accumulation in cells of the monocyte-macrophage system in various organs, including the liver. Evaluating and managing liver disease in patients with Gaucher disease may be challenging. While hepatic involvement is common in Gaucher disease, its severity, and clinical significance span a wide spectrum, ranging from sub-clinical involvement to liver cirrhosis with its associated complications including portal hypertension. Apart from liver involvement in Gaucher disease, patients with may also suffer from other comorbidities involving the liver. That Gaucher disease itself can mimic hepatic lesions, affect laboratory tests used to characterize liver disease, and may be associated with non-cirrhotic portal hypertension, complicates the diagnostic approach even more. Better understanding of liver involvement in Gaucher disease can spare patients unnecessary invasive testing, and assist physicians in decision making when evaluating patients with Gaucher disease suspected for significant liver disease. This review describes the various clinical manifestations, laboratory and imaging abnormalities that may be encountered when following patients with Gaucher disease for liver involvement. The mechanism for liver disease are discussed, as well as the possible hepato-protective effect of glucocerebroside, and the a diagnostic and treatment approaches.

  7. A Novel Statistical Model to Estimate Host Genetic Effects Affecting Disease Transmission

    Science.gov (United States)

    Anacleto, Osvaldo; Garcia-Cortés, Luis Alberto; Lipschutz-Powell, Debby; Woolliams, John A.; Doeschl-Wilson, Andrea B.

    2015-01-01

    There is increasing recognition that genetic diversity can affect the spread of diseases, potentially affecting plant and livestock disease control as well as the emergence of human disease outbreaks. Nevertheless, even though computational tools can guide the control of infectious diseases, few epidemiological models can simultaneously accommodate the inherent individual heterogeneity in multiple infectious disease traits influencing disease transmission, such as the frequently modeled propensity to become infected and infectivity, which describes the host ability to transmit the infection to susceptible individuals. Furthermore, current quantitative genetic models fail to fully capture the heritable variation in host infectivity, mainly because they cannot accommodate the nonlinear infection dynamics underlying epidemiological data. We present in this article a novel statistical model and an inference method to estimate genetic parameters associated with both host susceptibility and infectivity. Our methodology combines quantitative genetic models of social interactions with stochastic processes to model the random, nonlinear, and dynamic nature of infections and uses adaptive Bayesian computational techniques to estimate the model parameters. Results using simulated epidemic data show that our model can accurately estimate heritabilities and genetic risks not only of susceptibility but also of infectivity, therefore exploring a trait whose heritable variation is currently ignored in disease genetics and can greatly influence the spread of infectious diseases. Our proposed methodology offers potential impacts in areas such as livestock disease control through selective breeding and also in predicting and controlling the emergence of disease outbreaks in human populations. PMID:26405030

  8. Recording, notification, compilation, and classification of statistics of occupational accidents and diseases: the Thai experience.

    Science.gov (United States)

    Choi, B C

    1996-11-01

    An International Labour Organization (ILO) project was conducted in July and August 1995 in Thailand to assist with the development of an information system on occupational accidents and diseases for the Workmen's Compensation Fund (WCF). The WCF provides cash benefits and medical care to insured workers who suffer employment injuries. The project included literature research based on the facilities of the ILO in Bangkok, and those of the Thai government, and a thorough review of the ILO Code of Practice (the Code) on recording and notification of occupational accidents and diseases, and of other international recommendations on statistics of occupational accidents and diseases. A comparative study of various notification systems of occupational accidents and diseases in Australia, Canada, the Philippines, Sweden, Thailand, and the United States was conducted. The project also included fact-finding sessions among various information suppliers and users in Thailand. The Thai notification form for collecting data for the database was redesigned and pretested. Results of the project indicated that the Code is appropriate for the recording and notification of occupational accidents and diseases in Thailand. In addition, a number of information requirements, which were included in the notification systems in the countries studied but not listed in the Code, were found to be useful for the database. A list of the baseline variables to be included in the proposed database was developed, the notification form was redesigned, and coding schemes for the information collected on the redesigned form were constructed on the basis of international standard classification systems for economic activity, employment status, occupation, nature of injury, occupational disease, body part, type of accident, and agency. A number of mechanisms were suggested for cross-checking the accuracy of data in the database. Based on the review of the Code and other international recommendations on

  9. Phenotypic sub-grouping in microtia using a statistical and a clinical approach.

    Science.gov (United States)

    Luquetti, Daniela V; Saltzman, Babette S; Heike, Carrie L; Sie, Kathleen C; Birgfeld, Craig B; Evans, Kelly N; Leroux, Brian G

    2015-04-01

    The clinical presentation of microtia varies widely from minimal morphological abnormalities to complete absence of the ear. In this study we sought to identify and characterize sub-groups of microtia using a statistical and a clinical approach. Photographs of 86 ears were classified in relation to all the external ear components. We used cluster analysis and rater's clinical opinion to identify groups with similar phenotypes in two separate analyses. We used Cramer's Phi coefficient of association to assess the similarity among the clinician's groupings as well as among the statistical sub-phenotypic groups and each of the clinician's groupings. The cluster analysis initially divided the 86 ears into a more and a less severe group. The less severe group included two sub-groups that included ears classified as normal and a group that had very few anomalous components. The group of 48 more affected ears all had abnormalities of the helix crus; antihelix-stem, -superior crus and -inferior crus; and antitragus. These were further divided into 4 sub-phenotypes. There was a moderate degree of association among the raters' groupings (Cramer's Phi: 0.64 to 0.73). The statistical and clinical groupings had a lower degree of association (Cramer's Phi: 0.49 to 0.58). Using standardized characterization of structural abnormalities of the ear we identified six distinct phenotypic groups; correlations with clinicians' groupings were moderate. These clusters may represent groups of ear malformations associated with the same etiology, similar time of insult or target cell population during embryonic development. The results will help inform investigations on etiology.

  10. Clinical trials in luminal Crohn's disease: a historical perspective.

    Science.gov (United States)

    Hindryckx, Pieter; Baert, Filip; Hart, Ailsa; Armuzzi, Alessandro; Panès, Julian; Peyrin-Biroulet, Laurent

    2014-11-01

    It goes back to 1932 when Dr. Burrill Bernard Crohn and co-workers published their landmark paper, describing regional ileitis as a disease entity. However, clinical trial research has been developing rather slowly in luminal Crohn's disease. It took until the early seventies before the first randomized clinical trial was set up by the National Co-operative Crohn's Disease Study (NCCDS) group. Although the efforts of this group triggered a first wave of clinical trials in Crohn's disease, the lack of guidelines for conducting a clinical trial in this research area resulted in a variety of study designs and much criticism. Besides having a rather small sample size and a short follow-up time, they were often characterized by vague and subjective assessment of disease activity and treatment response. Following the advent of a new and very potent drug class in the late nineties, the anti-TNF agents, investigators started to re-think their study protocols and the first guidelines were set up by the regulatory authorities. Over the last 15years, clinical trials in luminal Crohn's disease have been evolving significantly. Inclusion criteria have been shifting from clinical scores such as Crohn's Disease Activity Index (CDAI) to more objective disease activity parameters such as biomarkers (C-reactive protein and faecal calprotectin) and endoscopic lesions. Primary endpoints have been developing from clinical response to corticosteroid-free remission and more ambitious end-points such as mucosal healing. In this paper, we will give a historical overview on clinical trials in luminal Crohn's disease, before and within the biologic era, and provide insight into how they have shaped our current understanding of trial designs in Crohn's disease.

  11. Clinical outcome of Crohn's disease according to the Vienna classification : disease location is a useful predictor of disease course

    NARCIS (Netherlands)

    Oostenbrug, Liekele E.; van Dullemen, Hendrik M.; te Meerman, Gerard J.; Jansen, Peter L. M.; Kleibeuker, Jan H.

    2006-01-01

    Objectives Crohn's disease (CD) is a complex genetic disease with multiple clinical patterns. Clinical classifications may help to identify subgroups of patients that have a distinct pattern of disease, and they are also a prerequisite for the conduction of genetic and therapeutic studies. The aim o

  12. Clinical applications of radiolabeled blood elements in inflammatory bowel disease

    Energy Technology Data Exchange (ETDEWEB)

    Martin-Comin, J. (Hospital Princeps d' Espanya, Barcelona (Spain). S. Medicina Nuclear); Prats, E. (Hospital Cinico, Zaragoza (Spain). S.Medicina Nuclear)

    1999-03-01

    The work discusses the main clinical features of inflammatory bowel disease (IBD) and the methods to obtain an accurate diagnostic. Nuclear medicine procedures are deeply analysed, with special emphasis in those where clinical experience is larger and that are available for clinical practice in most countries. In the opinion of the authors [sup 99m]Tc-HMPAO is the first choice agent, while [sup 111]In-oxine could be considered as a gold standard for evaluation of new agents. In the context of IBD, the WBC scintigraphy is useful for its diagnosis and the evaluation of disease extension. The evaluation of disease severity deserves further experiences.

  13. Pituitary diseases : long-term clinical consequences

    NARCIS (Netherlands)

    Klaauw, Agatha Apolonia van der

    2008-01-01

    This thesis describes various studies during the long-term follow-up of patients after treatment for pituitary diseases. The focus of this thesis is acromegaly, growth hormone deficiency, sleep and quality of life. Various aspects are described.

  14. Lipidomics applications for discovering biomarkers of diseases in clinical chemistry.

    Science.gov (United States)

    Zhao, Ying-Yong; Cheng, Xian-long; Lin, Rui-Chao

    2014-01-01

    Lipids are the fundamental components of biological membranes as well as the metabolites of organisms. Lipids play diverse and important roles in biologicals. The lipid imbalance is closely associated with numerous human lifestyle-related diseases, such as atherosclerosis, obesity, diabetes, and Alzheimer's disease. Lipidomics or lipid profiling is a system-based study of all lipids aiming at comprehensive analysis of lipids in the biological system. Lipidomics has been accepted as a lipid-related research tool in lipid biochemistry, clinical biomarker discovery, disease diagnosis, and in understanding disease pathology. Lipidomics will not only provide insights into the specific functions of lipid species in health and disease, but will also identify potential biomarkers for establishing preventive or therapeutic programs for human diseases. This review presents an overview of lipidomics followed by in-depth discussion of its application to the study of human diseases, including extraction methods of lipids, analytical technologies, data analysis, and clinical research in cancer, neuropsychiatric disease, cardiovascular disease, kidney disease, and respiratory disease. We describe the current status of the identification of metabolic biomarkers in different diseases. We also discuss the lipidomics for the future perspectives and their potential problems. The application of lipidomics in clinical studies may provide new insights into lipid profiling and pathophysiological mechanisms.

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

    Science.gov (United States)

    Schuppan, Detlef

    2016-07-01

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

  16. Statistical issues and limitations in personalized medicine research with clinical trials.

    Science.gov (United States)

    Rubin, Daniel B; van der Laan, Mark J

    2012-07-20

    We discuss using clinical trial data to construct and evaluate rules that use baseline covariates to assign different treatments to different patients. Given such a candidate personalization rule, we first note that its performance can often be evaluated without actually applying the rule to subjects, and a class of estimators is characterized from a statistical efficiency standpoint. We also point out a recently noted reduction of the rule construction problem to a classification task and extend results in this direction. Together these facts suggest a natural form of cross-validation in which a personalized medicine rule can be constructed from clinical trial data using standard classification tools and then evaluated in a replicated trial. Because replication is often required by the FDA to provide evidence of safety and efficacy before pharmaceutical drugs can be marketed, there are abundant data with which to explore the potential benefits of more tailored therapy. We constructed and evaluated personalized medicine rules using simulations based on two active-controlled randomized clinical trials of antibacterial drugs for the treatment of skin and skin structure infections. Unfortunately we present negative results that did not suggest benefit from personalization. We discuss the implications of this finding and why statistical approaches to personalized medicine problems will often face difficult challenges.

  17. Intestinal tuberculosis versus crohn's disease: Clinical and radiological recommendations

    Directory of Open Access Journals (Sweden)

    Raju Sharma

    2016-01-01

    Full Text Available Intestinal tuberculosis is a common clinical problem in India. The clinical features of this disease are nonspecific and can be very similar to Crohn's disease. Radiological evaluation of the small bowel has undergone a paradigm shift in the last decade. This long tubular organ that has traditionally been difficult to evaluate can now be well-visualized by some innovative imaging and endoscopic techniques. This article highlights the state-of-the-art evaluation of ulceroconstrictive diseases of the bowel and provides recommendations for the differentiation of intestinal tuberculosis from Crohn's disease.

  18. Inherited Retinal Degenerative Disease Clinical Trial Network

    Science.gov (United States)

    2012-10-01

    We studied a diverse group of 185 eyes with maculopathy including geographic atrophy and dry AMD with visual acuities between 19. 20 20/16 and...studied 36 eyes from 18 patients with non-exudative AMD with visual acuity between 20/16 and 20/160. Spectral domain-OCT or simultaneous OCT scans...that disruption of the photoreceptor IS/OS junction is a statistically significant predictor of poor visual acuity among patients with ERM, dry AMD

  19. Thresholds for statistical and clinical significance in systematic reviews with meta-analytic methods

    DEFF Research Database (Denmark)

    Jakobsen, Janus Christian; Wetterslev, Jørn; Winkel, Per;

    2014-01-01

    BACKGROUND: Thresholds for statistical significance when assessing meta-analysis results are being insufficiently demonstrated by traditional 95% confidence intervals and P-values. Assessment of intervention effects in systematic reviews with meta-analysis deserves greater rigour. METHODS......: Methodologies for assessing statistical and clinical significance of intervention effects in systematic reviews were considered. Balancing simplicity and comprehensiveness, an operational procedure was developed, based mainly on The Cochrane Collaboration methodology and the Grading of Recommendations...... Assessment, Development, and Evaluation (GRADE) guidelines. RESULTS: We propose an eight-step procedure for better validation of meta-analytic results in systematic reviews (1) Obtain the 95% confidence intervals and the P-values from both fixed-effect and random-effects meta-analyses and report the most...

  20. Data-driven risk identification in phase III clinical trials using central statistical monitoring.

    Science.gov (United States)

    Timmermans, Catherine; Venet, David; Burzykowski, Tomasz

    2016-02-01

    Our interest lies in quality control for clinical trials, in the context of risk-based monitoring (RBM). We specifically study the use of central statistical monitoring (CSM) to support RBM. Under an RBM paradigm, we claim that CSM has a key role to play in identifying the "risks to the most critical data elements and processes" that will drive targeted oversight. In order to support this claim, we first see how to characterize the risks that may affect clinical trials. We then discuss how CSM can be understood as a tool for providing a set of data-driven key risk indicators (KRIs), which help to organize adaptive targeted monitoring. Several case studies are provided where issues in a clinical trial have been identified thanks to targeted investigation after the identification of a risk using CSM. Using CSM to build data-driven KRIs helps to identify different kinds of issues in clinical trials. This ability is directly linked with the exhaustiveness of the CSM approach and its flexibility in the definition of the risks that are searched for when identifying the KRIs. In practice, a CSM assessment of the clinical database seems essential to ensure data quality. The atypical data patterns found in some centers and variables are seen as KRIs under a RBM approach. Targeted monitoring or data management queries can be used to confirm whether the KRIs point to an actual issue or not.

  1. Sharing Privacy Protected and Statistically Sound Clinical Research Data Using Outsourced Data Storage

    Directory of Open Access Journals (Sweden)

    Geontae Noh

    2014-01-01

    Full Text Available It is critical to scientific progress to share clinical research data stored in outsourced generally available cloud computing services. Researchers are able to obtain valuable information that they would not otherwise be able to access; however, privacy concerns arise when sharing clinical data in these outsourced publicly available data storage services. HIPAA requires researchers to deidentify private information when disclosing clinical data for research purposes and describes two available methods for doing so. Unfortunately, both techniques degrade statistical accuracy. Therefore, the need to protect privacy presents a significant problem for data sharing between hospitals and researchers. In this paper, we propose a controlled secure aggregation protocol to secure both privacy and accuracy when researchers outsource their clinical research data for sharing. Since clinical data must remain private beyond a patient’s lifetime, we take advantage of lattice-based homomorphic encryption to guarantee long-term security against quantum computing attacks. Using lattice-based homomorphic encryption, we design an aggregation protocol that aggregates outsourced ciphertexts under distinct public keys. It enables researchers to get aggregated results from outsourced ciphertexts of distinct researchers. To the best of our knowledge, our protocol is the first aggregation protocol which can aggregate ciphertexts which are encrypted with distinct public keys.

  2. [Celiac disease: clinical and subclinical forms].

    Science.gov (United States)

    Morali, A

    2002-03-01

    Coeliac disease is an intolerance to gluten that classically produces a chronic diarrhoea with a picture of malabsorption and a total villous atrophy. These elements regress completely in a sequential way under a prolonged strict gluten-free diet. The progress registered in the understanding of this affection depends on the individualization of the atypical forms (delayed isolated stature, constipation...) of asymptomatic forms thanks to the study of specific antibodies (anti-gliadin, anti-endomysium, and more recently anti-transglutaminase). The auto-immune nature of coeliac disease is well established. The diagnostic criteria are simplified allowing the commencement of a gluten-free diet which must be perfectly detailed. Finally, allergy to wheat flour merits individualization in the framework of coeliac disease (cf. article).

  3. A framework for integrating heterogeneous clinical data for a disease area into a central data warehouse.

    Science.gov (United States)

    Karmen, Christian; Ganzinger, Matthias; Kohl, Christian D; Firnkorn, Daniel; Knaup-Gregori, Petra

    2014-01-01

    Structured collection of clinical facts is a common approach in clinical research. Especially in the analysis of rare diseases it is often necessary to aggregate study data from several sites in order to achieve a statistically significant cohort size. In this paper we describe a framework how to approach an integration of heterogeneous clinical data into a central register. This enables site-spanning queries for the occurrence of specific clinical facts and thus supports clinical research. The framework consists of three sequential steps, starting from a formal data harmonization process, to the data transformation methods and finally the integration into a proper data warehouse. We implemented reusable software templates that are based on our best practices in several projects in integrating heterogeneous clinical data. Our methods potentially increase the efficiency and quality for future data integration projects by reducing the implementation effort as well as the project management effort by usage of our approaches as a guideline.

  4. Spatial statistical analysis of basal stem root disease under natural field epidemic of oil palm

    Science.gov (United States)

    Kamu, Assis; Phin, Chong Khim; Seman, Idris Abu; Wan, Hoong Hak; Mun, Ho Chong

    2015-02-01

    Oil palm or scientifically known as Elaeis guineensis Jacq. is the most important commodity crop in Malaysia and has greatly contributed to the economy growth of the country. As far as disease is concerned in the industry, Basal Stem Rot (BSR) caused by Ganoderma boninence remains the most important disease. BSR disease is the most widely studied with information available for oil palm disease in Malaysia. However, there is still limited study on the spatial as well as temporal pattern or distribution of the disease especially under natural field epidemic condition in oil palm plantation. The objective of this study is to spatially identify the pattern of BSR disease under natural field epidemic using two geospatial analytical techniques, which are quadrat analysis for the first order properties of partial pattern analysis and nearest-neighbor analysis (NNA) for the second order properties of partial pattern analysis. Two study sites were selected with different age of tree. Both sites are located in Tawau, Sabah and managed by the same company. The results showed that at least one of the point pattern analysis used which is NNA (i.e. the second order properties of partial pattern analysis) has confirmed the disease is complete spatial randomness. This suggests the spread of the disease is not from tree to tree and the age of palm does not play a significance role in determining the spatial pattern of the disease. From the spatial pattern of the disease, it would help in the disease management program and for the industry in the future. The statistical modelling is expected to help in identifying the right model to estimate the yield loss of oil palm due to BSR disease in the future.

  5. Comparison of statistical and clinical predictions of functional outcome after ischemic stroke.

    Directory of Open Access Journals (Sweden)

    Douglas D Thompson

    Full Text Available To determine whether the predictions of functional outcome after ischemic stroke made at the bedside using a doctor's clinical experience were more or less accurate than the predictions made by clinical prediction models (CPMs.A prospective cohort study of nine hundred and thirty one ischemic stroke patients recruited consecutively at the outpatient, inpatient and emergency departments of the Western General Hospital, Edinburgh between 2002 and 2005. Doctors made informal predictions of six month functional outcome on the Oxford Handicap Scale (OHS. Patients were followed up at six months with a validated postal questionnaire. For each patient we calculated the absolute predicted risk of death or dependence (OHS≥3 using five previously described CPMs. The specificity of a doctor's informal predictions of OHS≥3 at six months was good 0.96 (95% CI: 0.94 to 0.97 and similar to CPMs (range 0.94 to 0.96; however the sensitivity of both informal clinical predictions 0.44 (95% CI: 0.39 to 0.49 and clinical prediction models (range 0.38 to 0.45 was poor. The prediction of the level of disability after stroke was similar for informal clinical predictions (ordinal c-statistic 0.74 with 95% CI 0.72 to 0.76 and CPMs (range 0.69 to 0.75. No patient or clinician characteristic affected the accuracy of informal predictions, though predictions were more accurate in outpatients.CPMs are at least as good as informal clinical predictions in discriminating between good and bad functional outcome after ischemic stroke. The place of these models in clinical practice has yet to be determined.

  6. [Study and prospects for clinical diseases treated with scraping therapy].

    Science.gov (United States)

    Wang, Ying-ying; Yang, Jin-sheng

    2009-02-01

    In order to explore characteristics of clinical diseases treated by scraping therapy, summarize laws of clinical application of scraping therapy, and prospect for research direction of scraping therapy in future, collect 437 articles about scraping therapy between 1994-2007 and analyze and summarize the treated diseases and methods of scraping therapy. Results indicate that scraping therapy has been widely applied to commonly encountered diseases and frequently encountered diseases in departments of internal medicine, surgery, gynecology and pediatrics, etc. with more obvious therapeutic effects. Clinically, it can combine with acupuncture and moxibustion, cupping, massage, blood-letting puncture and other methods. In future, the studies on standardization of manipulation and standards for assessment of therapeutic effect, suitable diseases and the mechanisms of scraping therapy, and development of tools and media, etc. of scraping therapy should be strengthened.

  7. Currently Clinical Views on Genetics of Wilson′s Disease

    OpenAIRE

    Chen Chen; Bo Shen; Jia-Jia Xiao; Rong Wu; Sarah Jane Duff Canning; Xiao-Ping Wang

    2015-01-01

    Objective: The objective of this study was to review the research on clinical genetics of Wilson′s disease (WD). Data Sources: We searched documents from PubMed and Wanfang databases both in English and Chinese up to 2014 using the keywords WD in combination with genetic, ATP7B gene, gene mutation, genotype, phenotype. Study Selection: Publications about the ATP7B gene and protein function associated with clinical features were selected. Results: Wilson′s disease, also named hepat...

  8. EXPERIENCE OF BIOFEEDBACK IN CLINIC OCCUPATIONAL DISEASES

    Directory of Open Access Journals (Sweden)

    M. P. Dyakovich

    2013-01-01

    Full Text Available Biofeedback in toxic encephalopathy in the late period chronic intoxication by mercury and complex toxic substances led to decrease in the EEG changes, performance improvement of the amplitude and latency evoked potentials, in vibration disease – to decrease manifestations of angiodystonia syndrome, recovery of neuromuscular conductivity. The effectiveness of biofeedback is confirmed by changes in subjective measures of the patients.

  9. Robust statistical approaches to assess the degree of agreement of clinical data

    Science.gov (United States)

    Grilo, Luís M.; Grilo, Helena L.

    2016-06-01

    To analyze the blood of patients who took vitamin B12 for a period of time, two different medicine measurement methods were used (one is the established method, with more human intervention, and the other method uses essentially machines). Given the non-normality of the differences between both measurement methods, the limits of agreement are estimated using also a non-parametric approach to assess the degree of agreement of the clinical data. The bootstrap resampling method is applied in order to obtain robust confidence intervals for mean and median of differences. The approaches used are easy to apply, running a friendly software, and their outputs are also easy to interpret. In this case study the results obtained with (non)parametric approaches lead us to different statistical conclusions, but the decision whether agreement is acceptable or not is always a clinical judgment.

  10. A space-time permutation scan statistic for disease outbreak detection.

    Directory of Open Access Journals (Sweden)

    Martin Kulldorff

    2005-03-01

    Full Text Available 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 prospective space-time permutation scan statistic for the early detection of disease outbreaks that uses only case numbers, with no need for population-at-risk data. It makes minimal assumptions about the time, geographical location, or size of the outbreak, and it adjusts for natural purely spatial and purely temporal variation. The new method was evaluated using daily analyses of hospital emergency department visits in New York City. Four of the five strongest signals were likely local precursors to citywide outbreaks due to rotavirus, norovirus, and influenza. The number of false signals was at most modest. CONCLUSION: If such results hold up over longer study times and in other locations, the space-time permutation scan statistic will be an important tool for local and national health departments that are setting up early disease detection surveillance systems.

  11. Bridging the Gap between Statistical and Biological Epistasis in Alzheimer’s Disease

    Directory of Open Access Journals (Sweden)

    Mark T. W. Ebbert

    2015-01-01

    Full Text Available Alzheimer’s disease affects millions of people worldwide and incidence is expected to rise as the population ages, but no effective therapies exist despite decades of research and more than 20 known disease markers. Research has shown that Alzheimer’s disease’s missing heritability remains extensive with an estimated 25% of phenotypic variance unexplained by known variants. The missing heritability may be explained by missing variants or by epistasis. Researchers often focus on individual loci rather than epistatic interactions, which is likely an oversimplification of the underlying biology since most phenotypes are affected by multiple genes. Focusing research efforts on epistasis will be critical to resolving Alzheimer’s disease etiology, and a major key to identifying and properly interpreting key epistatic interactions will be bridging the gap between statistical and biological epistasis. This review covers the current state of epistasis research in Alzheimer’s disease and how researchers can bridge the gap between statistical and biological epistasis to help resolve Alzheimer’s disease etiology.

  12. Discovering disease associations by integrating electronic clinical data and medical literature.

    Directory of Open Access Journals (Sweden)

    Antony B Holmes

    Full Text Available Electronic health record (EHR systems offer an exceptional opportunity for studying many diseases and their associated medical conditions within a population. The increasing number of clinical record entries that have become available electronically provides access to rich, large sets of patients' longitudinal medical information. By integrating and comparing relations found in the EHRs with those already reported in the literature, we are able to verify existing and to identify rare or novel associations. Of particular interest is the identification of rare disease co-morbidities, where the small numbers of diagnosed patients make robust statistical analysis difficult. Here, we introduce ADAMS, an Application for Discovering Disease Associations using Multiple Sources, which contains various statistical and language processing operations. We apply ADAMS to the New York-Presbyterian Hospital's EHR to combine the information from the relational diagnosis tables and textual discharge summaries with those from PubMed and Wikipedia in order to investigate the co-morbidities of the rare diseases Kaposi sarcoma, toxoplasmosis, and Kawasaki disease. In addition to finding well-known characteristics of diseases, ADAMS can identify rare or previously unreported associations. In particular, we report a statistically significant association between Kawasaki disease and diagnosis of autistic disorder.

  13. Clinical Features and Pattern of Presentation of Breast Diseases in Surgical Outpatient Clinic of a Tertiary Hospital

    Directory of Open Access Journals (Sweden)

    Jagdish B. Karia

    2014-02-01

    Full Text Available Objective: The objective of thedu was to characterize the clinical features and pattern of presentation of breast diseases as observed in our practice. Materials and Methods: A prospective study of 121 consecutive patients with breast complaints presenting in our Surgical Outpatient Clinics. The relevant data were collected using the prescribed forms and was analyzed using Epi Info 2003, Mann and ndash;Whitney (test of two groups Chi-squared and Fishers exact test was used to compare parameters of benign and malignant groups. P value <0.05 was considered as significant. Results: One hundred and nineteen patients were females, two were males. The age range was 14 and ndash;70 years. Forty two (34.7% patients were in the 21 and ndash;30 year age group. The commonest symptoms were breast lump in 111 (91.7% patients, and breast pain in 28 (23.1% patients. Breast pain was a significant presenting complaint in patients with breast malignancy (P=0.026. On clinical examination 103 (85.1% patients had palpable lumps, and seven patients were normal. Forty four patients (36.3% had malignant disease, seventy patients (57.8% had benign breast diseases and seven were normal. Fifty nine of the 70 benign diseases were fibroadenoma. One hundred and three patients (85% had appropriate therapy, while 18 patients (14.8%, including eight with malignant disease absconded. Conclusion: In the study, a breast lump was the commonest clinical feature of breast disease. Over 60% of these were benign. Breast pain was a statistically significant presentation in patients with malignant breast disease. One in seven of the patients absconded. [Natl J Med Res 2014; 4(1.000: 40-43

  14. Phenotype/genotype correlations in Gaucher disease type 1: Clinical and therapeutic implications

    Energy Technology Data Exchange (ETDEWEB)

    Sibille, A.; Eng, C.M.; Kim, S.J.; Pastores, G. (Mount Sinai School of Medicine, New York, NY (United States)); Grabowski, G.A. (Mount Sinai School of Medicine, New York, NY (United States) Univ. of Cincinnati, OH (United States))

    1993-06-01

    Gaucher disease is the most frequent lysosomal storage disease and the most prevalent genetic disease among Ashkenazi Jews. Gaucher disease type 1 is characterized by marked variability of the phenotype and by the absence of neuronopathic involvement. To test the hypothesis that this phenotypic variability was due to genetic compounds of several different mutant alleles, 161 symptomatic patients with Gaucher disease type 1 (> 90% Ashkenazi Jewish) were analyzed for clinical involvement, and their genotypes were determined. Qualitative and quantitative measures of disease involvement included age at onset of the disease manifestations, hepatic and splenic volumes, age at splenectomy, and severity of bony disease. High statistically significant differences (P < .005) were found in each clinical parameter in patients with the N370S/N370S genotype compared with those patients with the N370S/84GG, N370S/L444P, and N370/ genotypes. The symptomatic N370S homozygotes had onset of their disease two to three decades later than patients with the other genotypes. In addition, patients with the latter genotypes have much more severely involved livers, spleens, and bones and had a higher incidence of splenectomy at an earlier age. These predictive genotype analyses provide the basis for genetic care delivery and therapeutic recommendations in patients affected with Gaucher disease type 1. 38 refs., 1 fig., 4 tabs.

  15. Periodontal disease in diabetic patients - clinical and histopathological aspects.

    Science.gov (United States)

    Corlan Puşcu, Dorina; Ciuluvică, Radu Constantin; Anghel, Andreea; Mălăescu, Gheorghe Dan; Ciursaş, Adina Nicoleta; Popa, Gabriel Valeriu; Agop Forna, Doriana; Busuioc, Cristina Jana; Siloşi, Izabela

    2016-01-01

    Periodontal disease is one of the most frequent diseases affecting people all over the world. The relation between periodontal disease and diabetes mellitus raised the interest both of dentists and doctors treating metabolic diseases, as the two conditions influence one another. In our study, we analyzed a number of 75 patients with diabetes mellitus and periodontal disease that presented to the medical consultory for conditions of the dental maxillary system. The clinical study showed that periodontal disease and diabetes may affect young adults as well, still this pathological association more frequently appears after the age of 50. The disease was identified especially in the women living in urban area. The clinical examination of the dental maxillary system identified the presence of gingival ulcerations, dental calculus, gingival bleeding, radicular leftovers with anfractuous margins, fixed prostheses with an inappropriate cervical adjustment. Of the systemic diseases associated to periodontal disease and diabetes mellitus, there was observed that 66.66% of the patients also suffered from cardiovascular diseases (high blood pressure, ischemic cardiopathy, heart failure), and 37.33% suffered from obesity. The histopathological and immunohistochemical tests highlighted the presence of an inflammatory chronic, intense reaction, mainly formed of lymphocytes, plasmocytes, macrophages and granulocytes, heterogeneously disseminated and alteration of the structure of marginal and superficial periodontium. The inflammatory reaction in the patients with periodontal disease and diabetes was more intense than in the patients with periodontal disease without diabetes.

  16. Challenges assessing clinical endpoints in early Huntington disease

    Science.gov (United States)

    Paulsen, Jane S.; Wang, Chiachi; Duff, Kevin; Barker, Roger; Nance, Martha; Beglinger, Leigh; Moser, David; Williams, Janet K.; Simpson, Sheila; Langbehn, Douglas; van Kammen, Daniel P.

    2010-01-01

    The primary aim of this study was to evaluate the current accepted standard clinical endpoint for the earliest-studied HD participants likely to be recruited into clinical trials. Since the advent of genetic testing for HD, it is possible to identify gene carriers prior to the diagnosis of disease, which opens up the possibility of clinical trials of disease-modifying treatments in clinically asymptomatic persons. Current accepted standard clinical endpoints were examined as part of a multi-national, 32-site, longitudinal, observational study of 786 research participants currently in the HD prodrome (gene-positive but not clinically diagnosed). Clinical signs and symptoms were used to prospectively predict functional loss as assessed by current accepted standard endpoints over 8 years of follow up. Functional capacity measures were not sensitive for HD in the prodrome; over 88% scored at ceiling. Prospective evaluation revealed that the first functional loss was in their accustomed work. In a survival analysis, motor, cognitive, and psychiatric measures were all predictors of job change. To our knowledge, this is the first prospective study ever conducted on the emergence of functional loss secondary to brain disease. We conclude that future clinical trials designed for very early disease will require the development of new and more sensitive measures of real-life function. PMID:20623772

  17. Clinical pharmacokinetics of levodopa in parkinson's disease.

    Science.gov (United States)

    Bianchine, J R; Shaw, G M

    1976-01-01

    Although levodopa has provided a major advance in the treatment of parkinsonism, its maximum benefits have not yet been realised, in part because of its complicated pharmacokinetics. This review summarises that available pharmacokinetic data involving levodopa, especially as it relates to therapeutic response of parkinsonian patients. A large number of factors, including protein intake, gastric emptying time, pyridoxine ingestion, and dopa decarboxylase activity, affect plasma levels of levodopa attained following oral administration of this drug. Other variables influence the rate of brain uptake of levodopa from the blood. Even so, plasma levodopa concentration correlates significantly with dosage size in a large parkinsonian population and also coincides with therapeutic response in many, but not all, patients. Therefore, in certain instances, valuable information may be derived by correlating clinical response with plasma levodopa concentration. Cerebrospinal fluid levels of homovanillic acid, a major metabolite of dopamine, may have some value in predicting clinical response to levodopa. This relationship, however, has not been firmly established. Concentration of homovanillic acid or levodopa in body fluids may also be closely related to certain adverse side-effects, including abnormal involuntary movements, gastric discomfort and psychiatric disturbances. Evidence indicates that a clearer understanding of levodopa pharmacokinetics may improve the clinical management of parkinsonism.

  18. Fahr’s Disease – about a clinical case

    Directory of Open Access Journals (Sweden)

    Joana Alexandre

    2014-10-01

    Full Text Available Fahr’s disease is a rare neuropsychiatric disorder with calcification of the basal nucleus. Its symptoms include movement disorders, dementia and affective disorders. The diagnosis is made with brain image particulary CAT or MRI. The authors describe a clinical case of Fahr’s disease, which presented initially with affective symptoms.

  19. Mitochondrial Diseases: Clinical Features- Management of Patients

    Directory of Open Access Journals (Sweden)

    Filiz Koc

    2003-02-01

    Full Text Available Mitochondria are unique organells which their own DNA in cells. Human mitochondrial DNA is circular, double-stranded molecule and small. Because all mitochondria are contributed by the ovum during the formation of the zygote, the mitochondrial genom is transmitted by maternal inheritance. Multisystem disorders such as deafness, cardiomyopathy, miyopathy can be seen in mitochondrial diseases. [Archives Medical Review Journal 2003; 12(0.100: 14-31

  20. Mitochondrial Diseases: Clinical Features- Management of Patients

    OpenAIRE

    Filiz Koc; Yakup Sarica

    2003-01-01

    Mitochondria are unique organells which their own DNA in cells. Human mitochondrial DNA is circular, double-stranded molecule and small. Because all mitochondria are contributed by the ovum during the formation of the zygote, the mitochondrial genom is transmitted by maternal inheritance. Multisystem disorders such as deafness, cardiomyopathy, miyopathy can be seen in mitochondrial diseases. [Archives Medical Review Journal 2003; 12(0.100): 14-31

  1. CLINICAL PROFILE OF INTERSTITIAL LUNG DISEASES CASES

    Directory of Open Access Journals (Sweden)

    Gagiya Ashok K

    2012-02-01

    Full Text Available Background: There are very few studies are done on interstitial lung diseases (ILD in India. Methods: We conducted a retrospective study of 30 patients of high resolution computed tomography (HRCT proven interstitial lung diseases in tertiary care centre. Results: Most common etiological causes of ILD were occupational (46.62%, Rheumatoid Arthritis (13.32%, and idiopathic pulmonary fibrosis (33.33 %. Majority were in age group 40-49 years (mean age-45.23 years and 66.5% male patients. Common symptoms were breathlessness on exertion (100%, dry cough (43.29%, anorexia (50% and joint pain (16.65%. Clubbing and bilateral crepitations were present in 50% and 63.27% of patients respectively. X- ray chest showed reticulo-nodular pattern (60%. Restrictive pattern (96.57% was present in majority patients in spirometry. Conclusion: Availability of non-invasive investigations like HRCT chest has increased our early recognitions of ILDs. Association of ILD in patients with autoimmune diseases must be ruled out. [National J of Med Res 2012; 2(1.000: 2-4

  2. Clinical and experimental pathology of Moyamoya disease

    Institute of Scientific and Technical Information of China (English)

    饶明俐; 张海鸥; 刘群; 张淑琴; 胡林森; 邓方

    2003-01-01

    Objective To investigate the etiology, pathology, and mechanism of pathogenesis of Moyamoya disease.Methods A total of 15 human autopsies were analyzed. In addition, in order to create an animal model of the disease, 21 Japanese rabbits were divided randomly into two groups and subjected to injections of horse serum either intravenously or locally in the area of the sympathetic ganglia. Pathological and immunohistochemical characteristics were observed.Results The pathological features of the autopsies and the animal models both involved intima hyperplasia and stenosis or even occlusion of the lumen in the terminal ends of the internal carotid artery and the anterior and middle cerebral arteries. Disconnections or even breakages of the inner layer of the lumen were also observed, without an obvious inflammatory response. Hyperplasic smooth muscle cells of the medial membrane had extended inward through broken portions of the internal elastic lamina, with intima cell hyperplasia resulting in lumen stenosis. The hyperplastic vascular walls were positive for IgG and IgM.Conclusions The etiology of Moyamoya disease may involve allergic angiitis. A possible mechanism is that proximal portions of the circle of Willis first develop chronic stenosis or occlusion, leading to compensatory small vessel proliferation, which perforates into the cerebral parenchyma.

  3. Inherited Retinal Degenerative Disease Clinical Trial Network. Addendum

    Science.gov (United States)

    2010-10-01

    gene therapy program with Oxford Biomedica to bring gene therapy for juvenile macular degeneration (Stargardt’s disease). This phase I clinical trial...working with Oxford Biomedica and a separate project with academic investigators on gene therapy for Usher lb syndrome (deaf-blindness due to a gene... Biomedica collaboration will begin no later than 04 2011. 3. NNRI has held multiple clinical investigator meetings to define clinical trial outcomes for

  4. Clinical manifestations and cerebral angiographic findings of moyamoya disease

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Objective To study the clinical features and angiographic findings of moyamoya disease (MMD) as well as their relationship. Methods A total of 22 MMD patients received routine digital substraction angiography (DSA). The clinical manifestations and angiographic findings were analyzed. Results Clinical manifestations varied and each patient often had multiple symptoms,including cerebral infarction in 9 patients with an average age of 23.6 (13-39 years) and cerebral hemorrhage in 7 patients with an average age...

  5. Clinical zinc deficiency as early presentation of Wilson disease.

    Science.gov (United States)

    Van Biervliet, Stephanie; Küry, Sébastien; De Bruyne, Ruth; Vanakker, Olivier M; Schmitt, Sébastien; Vande Velde, Saskia; Blouin, Eric; Bézieau, Stéphane

    2015-04-01

    Wilson disease is a rare autosomal recessive disorder of the copper metabolism caused by homozygous or compound heterozygous mutations in the ATP-ase Cu(2+) transporting polypeptide (ATP7B) gene. The copper accumulation in different organs leads to the suspicion of Wilson disease. We describe a child with clinical zinc deficiency as presenting symptom of Wilson disease, which was confirmed by 2 mutations within the ATP7B gene and an increased copper excretion.

  6. Clinical Decision Support for Vascular Disease in Community Family Practice

    Science.gov (United States)

    Keshavjee, K; Holbrook, AM; Lau, E; Esporlas-Jewer, I; Troyan, S

    2006-01-01

    The COMPETE III Vascular Disease Tracker (C3VT) is a personalized, Web-based, clinical decision support tool that provides patients and physicians access to a patient’s 16 individual vascular risk markers, specific advice for each marker and links to best practices in vascular disease management. It utilizes the chronic care model1 so that physicians can better manage patients with chronic diseases. Over 1100 patients have been enrolled into the COMPETE III study to date.

  7. Reductions in disease activity in the AMPLE trial: clinical response by baseline disease duration

    Science.gov (United States)

    Schiff, Michael; Weinblatt, Michael E; Valente, Robert; Citera, Gustavo; Maldonado, Michael; Massarotti, Elena; Yazici, Yusuf; Fleischmann, Roy

    2016-01-01

    Objectives To evaluate clinical response by baseline disease duration using 2-year data from the AMPLE trial. Methods Patients were randomised to subcutaneous abatacept 125 mg weekly or adalimumab 40 mg bi-weekly, with background methotrexate. As part of a post hoc analysis, the achievement of validated definitions of remission (Clinical Disease Activity Index (CDAI) ≤2.8, Simplified Disease Activity Index (SDAI) ≤3.3, Routine Assessment of Patient Index Data 3 (RAPID3) ≤3.0, Boolean score ≤1), low disease activity (CDAI 6 months). Disease Activity Score 28 (C-reactive protein) 6 months) across multiple clinical measures. Conclusions Abatacept or adalimumab with background methotrexate were associated with similar onset and sustainability of response over 2 years. Patients treated early or later in the disease course achieved comparable clinical responses. Trial registration number NCT00929864, Post-results. PMID:27110385

  8. CLINICAL ANALYSIS AND TREATMENT OF 14 CASESOF EXTRAMAMMARY PAGET'S DISEASE

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Objective To diffrentiate extramammary Paget' s disease ( EPD ) clinically and histologically from other skin diseases. Methods Clinical analysis and excisional treatment of 14 patients with EPD were reviewed from 1987 to 1997. Results Of 14 patients, 12 involved scrotum and penis, one in the groin and the other one in the perianal region. All were positive for cytokeratin and negative for S-100 protein. Follow-up showed 3 recurrences who had positive surgical margin biopsy. One died of other disease. Conclusion Surgery is the first choice for treatment of EPD. Negative margin must be achieved to prevent local recurrence.

  9. Graves Disease And Down Sindrome : Clinical Case

    Directory of Open Access Journals (Sweden)

    Scrinic Olesea

    2015-08-01

    Full Text Available Introduction: Pacients with Down’s syndrome present an increase revalence of autoimune endocrine disorders. We communicate the case of 14 years and 6 months old pacient known with Down syndrome admitted in Endocrinology department with suspicion of hyperthyroidism, the diagnosis being confirmed by hormonal dosage. The particularity of the case consists in: symptomatology onset during puberty, clinical evolution with mild symptoms, without ocular involvement, morphological and functional remission obtained relatively soon after the initiation of antithyroid therapy, lack of posttherapy side effects, favorabile evolution under the “block and replace” therapy

  10. [Pathogenesis and clinical condition of hyperphosphatemic diseases].

    Science.gov (United States)

    Hamano, Naoto; Fukagawa, Masafumi

    2016-02-01

    Phosphorus is essential mineral to life, which has the multiple roles like postural maintenance or production of energy in the cells. Phosphate overload is harmful and compensatory mechanisms exist. Phosphate is abolished through kidneys and target organ of the compensatory mechanism is also kidneys. It is necessary to evaluate renal function and source of phosphate for estimating the cause of hyperphosphatemia. Acute hyperphosphatemia may cause severe acute kidney injury and avoidance of massive phosphate overload is needed. Chronic hyperphosphatemia have an impact on prognosis because the risk of cardiovascular event increases. Adequate restriction of phosphate intake and use of phosphate absorbent is needed for improvement of prognosis of patients with chronic kidney disease.

  11. [Peptic ulcer disease. Clinical evaluation in 2006].

    Science.gov (United States)

    Malfertheiner, P; Bellutti, M

    2006-06-01

    Treatment of peptic ulcer disease has undergone a radical change due to the discovery of its main cause, the Helicobacter pylori infection. The management of the chronic infection is now the primary aim. Treatment of peptic ulcer essentially consists of eradicating H. pylori. A current problem is the resistance developed by H. pylori to the antibiotics used in eradication regimen. Ulcers that are induced by nonsteroidal antirheumatic (NSAR) agents and acetylsalicylic acid are gaining in importance. Optimized inhibition of acid secretion with proton pump inhibitors has made it possible to both prevent and cure ulcers in the stomach and duodenum caused by NSAR agents.

  12. Statistical quantifiers of memory for an analysis of human brain and neuro-system diseases

    Science.gov (United States)

    Demin, S. A.; Yulmetyev, R. M.; Panischev, O. Yu.; Hänggi, Peter

    2008-03-01

    On the basis of a memory function formalism for correlation functions of time series we investigate statistical memory effects by the use of appropriate spectral and relaxation parameters of measured stochastic data for neuro-system diseases. In particular, we study the dynamics of the walk of a patient who suffers from Parkinson's disease (PD), Huntington's disease (HD), amyotrophic lateral sclerosis (ALS), and compare against the data of healthy people (CO - control group). We employ an analytical method which is able to characterize the stochastic properties of stride-to-stride variations of gait cycle timing. Our results allow us to estimate quantitatively a few human locomotion function abnormalities occurring in the human brain and in the central nervous system (CNS). Particularly, the patient's gait dynamics are characterized by an increased memory behavior together with sizable fluctuations as compared with the locomotion dynamics of healthy patients. Moreover, we complement our findings with peculiar features as detected in phase-space portraits and spectral characteristics for the different data sets (PD, HD, ALS and healthy people). The evaluation of statistical quantifiers of the memory function is shown to provide a useful toolkit which can be put to work to identify various abnormalities of locomotion dynamics. Moreover, it allows one to diagnose qualitatively and quantitatively serious brain and central nervous system diseases.

  13. Variants of cognitive deficiency depending on the clinical characteristics of the disease in patients with paranoid schizophrenia

    OpenAIRE

    G. G. Lebedeva; E. R. Isaeva

    2015-01-01

    Pecific aspects of cognitive impairments in patients with paranoid schizophrenia depending on the clinical characteristics of the disease have been studied. One hundred and thirty patients were examined. A clinico-psychological, experimental psychological and statistical methods were used. Three main types of cognitive deficiency with paranoid schizophrenia, associated with the onset, disease duration, and severity of psychiatric symptomology : 1) long-term course of the disease accompanied b...

  14. Histoplasmosis Statistics

    Science.gov (United States)

    ... Foodborne, Waterborne, and Environmental Diseases Mycotic Diseases Branch Histoplasmosis Statistics Recommend on Facebook Tweet Share Compartir How common is histoplasmosis? In the United States, an estimated 60% to ...

  15. Ethical clinical translation of stem cell interventions for neurologic disease

    DEFF Research Database (Denmark)

    Cote, David J; Bredenoord, Annelien L; Smith, Timothy R

    2017-01-01

    The application of stem cell transplants in clinical practice has increased in frequency in recent years. Many of the stem cell transplants in neurologic diseases, including stroke, Parkinson disease, spinal cord injury, and demyelinating diseases, are unproven-they have not been tested...... in prospective, controlled clinical trials and have not become accepted therapies. Stem cell transplant procedures currently being carried out have therapeutic aims, but are frequently experimental and unregulated, and could potentially put patients at risk. In some cases, patients undergoing such operations...... are not included in a clinical trial, and do not provide genuinely informed consent. For these reasons and others, some current stem cell interventions for neurologic diseases are ethically dubious and could jeopardize progress in the field. We provide discussion points for the evaluation of new stem cell...

  16. [Kawasaki disease: interdisciplinary and intersocieties consensus (clinical guidelines). Brief version].

    Science.gov (United States)

    2016-08-01

    Kawasaki disease is an acute self-limiting systemic vasculitis. It is the most common cause of acquired heart disease, with the risk of developing coronary artery aneurysms, myocardial infarction and sudden death. Diagnosis is based on the presence of fever in addition to other clinical criteria. The quarter of the Kawasaki disease patients have "incomplete" presentation. Treatment with intravenous immunoglobulin within ten days of fever onset improves clinical outcomes and reduces the incidence of coronary artery dilation to less than 5%. Non-responders to standard therapy have shown a successful response with the use of corticosteroids and/or biological agents. The long-term management must be delineated according to the degree of coronary involvement in a multidisciplinary manner. To facilitate the pediatrician's diagnosis, treatment and monitoring of Kawasaki disease, a group of experts from the Argentine Society of Pediatrics and the Argentine Society of Cardiology carried out a consensus to develop practical clinical guidelines.

  17. [Clinical microbiology laboratory and imported parasitic diseases].

    Science.gov (United States)

    Martín-Rabadán, Pablo; Martínez-Ruiz, Rocío; Cuadros, Juan; Cañavate, Carmen

    2010-12-01

    Imported parasitosis represents an increasingly frequent diagnostic challenge for microbiology laboratories. A surge in immigration and international travel has led to a rise in the number of imported cases of parasitosis, and this trend is expected to continue in the future. The present article addresses this challenge by reviewing recommended diagnostic approaches and tests. Currently, microscopy is always recommended when analysing blood samples for parasites. If malaria is suspected, rapid antigen testing (including at least HRP2 antigen) should also be performed. The work-up for suspected leishmaniasis should include serology, culture, and in selected cases detection of antigen in urine. In suspected Chagas disease, two different serological tests should be performed. PCR for blood protozoa is highly sensitive, although it cannot be used to rule out Chagas disease, since this condition may be present without parasitemia. Accurate diagnosis of intestinal amebiasis usually requires PCR or antigen detection tests. In helminthiasis, traditional microscopy may need to be complemented with other tests, such as agar plate culture for strongyloidiasis, Og4C3 antigen detection for bancroftian filariasis, and antibody detection test for filariasis and schistosomiasis.

  18. Statistical Analysis of Risk Factors for Cardiovascular disease in Malakand Division

    Directory of Open Access Journals (Sweden)

    Salahud Din

    2006-01-01

    Full Text Available Several studies have been conducted to investigate the incidence of cardiovascular disease and to determine the possible risk factors for the disease. In this study, a Statistical method of odds ratio analysis was performed to look at the association of one of the type of cardiovascular disease known as myocardial infarction with various risk factors such as diabetes, cholesterol, hypertension, sex, smoking, obesity, family history and age in Malakand division. A total of 700 patients were examined and their personal and medical data were collected. For each patient, the phenomenon of myocardial infarction was studied in relation to different risk factors. The analyses suggest that hypertension, smoking, diabetes, cholesterol level and family history were important risk factors for the occurrence of myocardial infarction.

  19. Automated CT segmentation of diseased hip using hierarchical and conditional statistical shape models.

    Science.gov (United States)

    Yokota, Futoshi; Okada, Toshiyuki; Takao, Masaki; Sugano, Nobuhiko; Tada, Yukio; Tomiyama, Noriyuki; Sato, Yoshinobu

    2013-01-01

    Segmentation of the femur and pelvis is a prerequisite for patient-specific planning and simulation for hip surgery. Accurate boundary determination of the femoral head and acetabulum is the primary challenge in diseased hip joints because of deformed shapes and extreme narrowness of the joint space. To overcome this difficulty, we investigated a multi-stage method in which the hierarchical hip statistical shape model (SSM) is initially utilized to complete segmentation of the pelvis and distal femur, and then the conditional femoral head SSM is used under the condition that the regions segmented during the previous stage are known. CT data from 100 diseased patients categorized on the basis of their disease type and severity, which included 200 hemi-hips, were used to validate the method, which delivered significantly increased segmentation accuracy for the femoral head.

  20. The effects of clinical and statistical heterogeneity on the predictive values of results from meta-analyses

    NARCIS (Netherlands)

    Melsen, W G; Rovers, M M; Bonten, M J M; Bootsma, M C J

    2014-01-01

    Variance between studies in a meta-analysis will exist. This heterogeneity may be of clinical, methodological or statistical origin. The last of these is quantified by the I(2) -statistic. We investigated, using simulated studies, the accuracy of I(2) in the assessment of heterogeneity and the effec

  1. Comparison of Statistical Algorithms for the Detection of Infectious Disease Outbreaks in Large Multiple Surveillance Systems

    Science.gov (United States)

    Farrington, C. Paddy; Noufaily, Angela; Andrews, Nick J.; Charlett, Andre

    2016-01-01

    A large-scale multiple surveillance system for infectious disease outbreaks has been in operation in England and Wales since the early 1990s. Changes to the statistical algorithm at the heart of the system were proposed and the purpose of this paper is to compare two new algorithms with the original algorithm. Test data to evaluate performance are created from weekly counts of the number of cases of each of more than 2000 diseases over a twenty-year period. The time series of each disease is separated into one series giving the baseline (background) disease incidence and a second series giving disease outbreaks. One series is shifted forward by twelve months and the two are then recombined, giving a realistic series in which it is known where outbreaks have been added. The metrics used to evaluate performance include a scoring rule that appropriately balances sensitivity against specificity and is sensitive to variation in probabilities near 1. In the context of disease surveillance, a scoring rule can be adapted to reflect the size of outbreaks and this was done. Results indicate that the two new algorithms are comparable to each other and better than the algorithm they were designed to replace. PMID:27513749

  2. Multi-resolution Statistical Analysis of Brain Connectivity Graphs in Preclinical Alzheimer's Disease

    Science.gov (United States)

    Kim, Won Hwa; Adluru, Nagesh; Chung, Moo K.; Okonkwo, Ozioma C.; Johnson, Sterling C.; Bendlin, Barbara; Singh, Vikas

    2015-01-01

    There is significant interest, both from basic and applied research perspectives, in understanding how structural/functional connectivity changes can explain behavioral symptoms and predict decline in neurodegenerative diseases such as Alzheimer's disease (AD). The first step in most such analyses is to encode the connectivity information as a graph; then, one may perform statistical inference on various ‘global’ graph theoretic summary measures (e.g., modularity, graph diameter) and/or at the level of individual edges (or connections). For AD in particular, clear differences in connectivity at the dementia stage of the disease (relative to healthy controls) have been identified. Despite such findings, AD-related connectivity changes in preclinical disease remain poorly characterized. Such preclinical datasets are typically smaller and group differences are weaker. In this paper, we propose a new multi-resolution method for performing statistical analysis of connectivity networks/graphs derived from neuroimaging data. At the high level, the method occupies the middle ground between the two contrasts — that is, to analyze global graph summary measures (global) or connectivity strengths or correlations for individual edges similar to voxel based analysis (local). Instead, our strategy derives a Wavelet representation at each primitive (connection edge) which captures the graph context at multiple resolutions. We provide extensive empirical evidence of how this framework offers improved statistical power by analyzing two distinct AD datasets. Here, connectivity is derived from diffusion tensor magnetic resonance images by running a tractography routine. We first present results showing significant connectivity differences between AD patients and controls that were not evident using standard approaches. Later, we show results on populations that are not diagnosed with AD but have a positive family history risk of AD where our algorithm helps in identifying

  3. A network approach to clinical intervention in neurodegenerative diseases.

    Science.gov (United States)

    Santiago, Jose A; Potashkin, Judith A

    2014-12-01

    Network biology has become a powerful tool to dissect the molecular mechanisms triggering neurodegeneration. Recent developments in network biology have led to the discovery of disease-causing genes, diagnostic biomarkers, and therapeutic targets for several neurodegenerative diseases including Alzheimer's, Parkinson's, and Huntington's diseases. Network-based approaches have provided the molecular rationale for the relationship among cancer, diabetes, and neurodegenerative diseases, and have uncovered unexpected links between apparently unrelated diseases. Here, we summarize the recent advances in network biology to untangle the molecular underpinnings giving rise to the most prevalent neurodegenerative diseases. We propose that network analysis provides a feasible and practical tool for identifying biologically meaningful biomarkers and potential therapeutic targets for clinical intervention in neurodegenerative diseases.

  4. Creating an effective clinical registry for rare diseases.

    Science.gov (United States)

    D'Agnolo, Hedwig Ma; Kievit, Wietske; Andrade, Raul J; Karlsen, Tom Hemming; Wedemeyer, Heiner; Drenth, Joost Ph

    2016-06-01

    The exposure of clinicians to patients with rare gastrointestinal diseases is limited. This hurts clinical studies, which impedes accumulation of scientific knowledge on the natural disease course, treatment outcomes and prognosis in these patients. An excellent method to detect patterns on an aggregate level that would not be possible to discover in individual cases, is a registry study. This paper aims to describe a template to create a successful international registry for rare diseases. We focus mainly on rare hepatic diseases, but lessons from this paper serve other fields in medicine, as well.

  5. Creating an effective clinical registry for rare diseases

    Science.gov (United States)

    D’Agnolo, Hedwig MA; Kievit, Wietske; Andrade, Raul J; Karlsen, Tom Hemming; Wedemeyer, Heiner

    2015-01-01

    The exposure of clinicians to patients with rare gastrointestinal diseases is limited. This hurts clinical studies, which impedes accumulation of scientific knowledge on the natural disease course, treatment outcomes and prognosis in these patients. An excellent method to detect patterns on an aggregate level that would not be possible to discover in individual cases, is a registry study. This paper aims to describe a template to create a successful international registry for rare diseases. We focus mainly on rare hepatic diseases, but lessons from this paper serve other fields in medicine, as well. PMID:27403298

  6. Clinical effectiveness of acupuncture on Parkinson disease

    Science.gov (United States)

    Lee, Sook-Hyun; Lim, Sabina

    2017-01-01

    Abstract Background: Parkinson's disease (PD) is the second-most-common chronic and progressive neurodegenerative disease. The long-term use of levodopa leads to a loss of efficacy and to complications. Therefore, many patients with PD have turned to complementary therapies to help relieve their symptoms. Acupuncture is most commonly used as a complementary therapy in patients with PD. This paper presents a systematic review and meta-analysis of the effects of acupuncture for patients with PD. This study was performed to summarize and evaluate evidence regarding the effectiveness of acupuncture in the relief of PD symptoms. Methods: Seven databases, namely, MEDLINE, EMBASE, the Cochrane Library, the China National Knowledge Infrastructure [CNKI], and three Korean medical databases, were searched from their inception through August 2015 without language restrictions. Randomized controlled trials (RCTs) were included if they contained reports of acupuncture compared with no treatment and conventional treatment alone or acupuncture plus conventional treatment compared with conventional treatment alone for PD symptoms. Assessments were performed with the unified PD rating scales (UPDRS) I, II, III, and IV and the total score, the Webster scale, and effectiveness rating. Methodological quality was assessed using the Physiotherapy Evidence Database (PEDro) scale and the Cochrane risk of bias (ROB). Results: In all, 982 potentially relevant articles were identified; 25 RCTs met our inclusion criterion, 19 of 25 RCTs were high-quality studies (i.e., a score of 6 or higher). The included RCTs showed favorable results for acupuncture plus conventional treatment compared with conventional treatment alone in the UPDRS II, III, and IV and the total score. Acupuncture was effective in relieving PD symptoms compared with no treatment and conventional treatment alone, and acupuncture plus conventional treatment had a more significant effect than conventional treatment alone

  7. Disease activity in Graves' ophthalmopathy: diagnosis with orbital MR imaging and correlation with clinical score.

    Science.gov (United States)

    Tortora, Fabio; Cirillo, Mario; Ferrara, Marco; Belfiore, Maria Paola; Carella, Carlo; Caranci, Ferdinando; Cirillo, Sossio

    2013-10-01

    In Graves' ophthalmopathy (GO) it is important to distinguish acute inflammation at an early stage, responsive to immunosuppressive treatment, from inactive fibrotic end stage disease, unresponsive to the same treatment. The purpose of this study was to identify the most relevant signal intensities on orbital MR imaging with contrast administration both to classify patients according to their clinical activity score (defined by a cut-off value of 3) and to make a prediction of patient's CAS. Such threshold was considered as widely used in literature. Sixteen consecutive patients with a diagnosis of GO in different phases of thyroid disease based on clinical and orbital MR imaging signs, and six normal volunteers were examined. Orbital MR imaging was performed on a 1.5 Tesla MR Unit. MR scans were assessed by an experienced neuroradiologist, blinded to the clinical examinations. We found a statistical correlation between CAS and both STIR and contrast enhanced T1-weighted sequences. There was also a statistically significant correlation between STIR and contrast-enhanced T1 images disclosing the possibility of avoiding the injection of contrast medium. Our study proved that signal intensity values on STIR sequence increase in the inflammatory oedematous phase of disease. We confirmed the correlation between signal intensities on this sequence and CAS, showing an increase in signal intensity proportional to the CAS value. So we validated MRI use to establish the activity phase of disease more sensitively than CAS alone.

  8. Disease Activity in Graves' Ophthalmopathy: Diagnosis with Orbital MR Imaging and Correlation with Clinical Score

    Science.gov (United States)

    Tortora, Fabio; Cirillo, Mario; Ferrara, Marco; Belfiore, Maria Paola; Carella, Carlo; Caranci, Ferdinando; Cirillo, Sossio

    2013-01-01

    Summary In Graves' ophthalmopathy (GO) it is important to distinguish acute inflammation at an early stage, responsive to immunosuppressive treatment, from inactive fibrotic end stage disease, unresponsive to the same treatment. The purpose of this study was to identify the most relevant signal intensities on orbital MR imaging with contrast administration both to classify patients according to their clinical activity score (defined by a cut-off value of 3) and to make a prediction of patient's CAS. Such threshold was considered as widely used in literature. Sixteen consecutive patients with a diagnosis of GO in different phases of thyroid disease based on clinical and orbital MR imaging signs, and six normal volunteers were examined. Orbital MR imaging was performed on a 1.5 Tesla MR Unit. MR scans were assessed by an experienced neuroradiologist, blinded to the clinical examinations. We found a statistical correlation between CAS and both STIR and contrast enhanced T1-weighted sequences. There was also a statistically significant correlation between STIR and contrast-enhanced T1 images disclosing the possibility of avoiding the injection of contrast medium. Our study proved that signal intensity values on STIR sequence increase in the inflammatory oedematous phase of disease. We confirmed the correlation between signal intensities on this sequence and CAS, showing an increase in signal intensity proportional to the CAS value. So we validated MRI use to establish the activity phase of disease more sensitively than CAS alone. PMID:24199816

  9. Exogenous melatonin for sleep disorders in neurodegenerative diseases: a meta-analysis of randomized clinical trials.

    Science.gov (United States)

    Zhang, Wei; Chen, Xue-yan; Su, Su-wen; Jia, Qing-zhong; Ding, Tao; Zhu, Zhong-ning; Zhang, Tong

    2016-01-01

    The purpose of this work is to investigate the efficacy of exogenous melatonin in the treatment of sleep disorders in patients with neurodegenerative disease. We searched Pubmed, the Cochrane Library, and ClinicalTrials.gov, from inception to July 2015. We included randomized clinical trials (RCTs) that compared melatonin with placebo and that had the primary aim of improving sleep in people with neurodegenerative diseases, particularly Alzheimer's disease (AD) and Parkinson's disease (PD). We pooled data with the weighted mean difference in sleep outcomes. To assess heterogeneity in results of individual studies, we used Cochran's Q statistic and the I (2) statistic. 9 RCTs were included in this research. We found that the treatment with exogenous melatonin has positive effects on sleep quality as assessed by the Pittsburgh Sleep Quality Index (PSQI) in PD patients (MD: 4.20, 95 % CI: 0.92-7.48; P = 0.01), and by changes in PSQI component 4 in AD patients (MD: 0.67, 95 % CI: 0.04-1.30; P = 0.04), but not on objective sleep outcomes in both AD and PD patients. Treatment with melatonin effectively improved the clinical and neurophysiological aspects of rapid eye movement (REM) sleep behavior disorder (RBD), especially elderly individuals with underlying neurodegenerative disorders. This meta-analysis provided some evidence that melatonin improves sleep quality in patients with AD and PD, and melatonin can be considered as a possible sole or add-on therapy in neurodegenerative disorders patients with RBD.

  10. LOWER LEVELS OF VITAMIN D CORRELATE WITH CLINICAL DISEASE ACTIVITY AND QUALITY OF LIFE IN INFLAMMATORY BOWEL DISEASE

    Directory of Open Access Journals (Sweden)

    Francisca DIAS DE CASTRO

    2015-12-01

    Full Text Available Background - Inflammatory bowel disease, comprising Crohn's disease and ulcerative colitis, is a group of debilitating conditions associated with deregulated mucosal immune response. Vitamin D has been implicated in immune response and gastrointestinal function. Objectives - To investigate the correlation between serum vitamin D levels and disease activity and quality of life in patients with inflammatory bowel disease. Methods - This cross-sectional study enrolled ambulatory patients with inflammatory bowel disease and assessed clinical disease activity and quality of life (Short Inflammatory Bowel Disease Questionnaire [SIBDQ]. Vitamin D levels were determined via serum 25-hydroxyvitamin D measurement; deficiency was defined as values <20 ng/mL. Statistical analysis was performed with SPSS vs 20.0. Results - A total of 76 patients were enrolled, 19 with ulcerative colitis (25% and 57 with Crohn's disease (75%. Overall, mean serum 25-hydroxyvitamin D levels were low (26.0±10.0 ng/mL, while those in patients with Crohn's disease were significantly lower than ulcerative colitis (24.6±8.0 vs 30.0±12.5 ng/mL; P=0.032. Vitamin D deficiency was found in 30% of patients. Patients who were in clinical remission were found to have higher levels of vitamin D than those who were not in remission (28.0±10.3 vs 21.6±6.0 ng/mL, P=0.001. Inflammatory bowel disease patients with SIBDQ scores <50 were found to have significantly lower mean vitamin D levels compared with patients who had SIBDQ scores ≥50 (23.4±6.9 vs 27.9±10.8 ng/mL, P=0.041. Conclusions - A high proportion of patients with inflammatory bowel disease were vitamin D deficient, particularly patients with Crohn's disease. Both clinical disease activity and quality of life correlated significantly with lower levels of vitamin D, illustrating a clear need for supplementation in patients with inflammatory bowel disease.

  11. Empirical Bayes scan statistics for detecting clusters of disease risk variants in genetic studies.

    Science.gov (United States)

    McCallum, Kenneth J; Ionita-Laza, Iuliana

    2015-12-01

    Recent developments of high-throughput genomic technologies offer an unprecedented detailed view of the genetic variation in various human populations, and promise to lead to significant progress in understanding the genetic basis of complex diseases. Despite this tremendous advance in data generation, it remains very challenging to analyze and interpret these data due to their sparse and high-dimensional nature. Here, we propose novel applications and new developments of empirical Bayes scan statistics to identify genomic regions significantly enriched with disease risk variants. We show that the proposed empirical Bayes methodology can be substantially more powerful than existing scan statistics methods especially so in the presence of many non-disease risk variants, and in situations when there is a mixture of risk and protective variants. Furthermore, the empirical Bayes approach has greater flexibility to accommodate covariates such as functional prediction scores and additional biomarkers. As proof-of-concept we apply the proposed methods to a whole-exome sequencing study for autism spectrum disorders and identify several promising candidate genes.

  12. [Methods of the multivariate statistical analysis of so-called polyetiological diseases using the example of coronary heart disease].

    Science.gov (United States)

    Lifshits, A M

    1979-01-01

    General characteristics of the multivariate statistical analysis (MSA) is given. Methodical premises and criteria for the selection of an adequate MSA method applicable to pathoanatomic investigations of the epidemiology of multicausal diseases are presented. The experience of using MSA with computors and standard computing programs in studies of coronary arteries aterosclerosis on the materials of 2060 autopsies is described. The combined use of 4 MSA methods: sequential, correlational, regressional, and discriminant permitted to quantitate the contribution of each of the 8 examined risk factors in the development of aterosclerosis. The most important factors were found to be the age, arterial hypertension, and heredity. Occupational hypodynamia and increased fatness were more important in men, whereas diabetes melitus--in women. The registration of this combination of risk factors by MSA methods provides for more reliable prognosis of the likelihood of coronary heart disease with a fatal outcome than prognosis of the degree of coronary aterosclerosis.

  13. Integrated statistical learning of metabolic ion mobility spectrometry profiles for pulmonary disease identification

    DEFF Research Database (Denmark)

    Hauschild, A.C.; Baumbach, Jan; Baumbach, J.

    2012-01-01

    Exhaled air carries information on human health status. Ion mobility spectrometers combined with a multi-capillary column (MCC/IMS) is a well-known technology for detecting volatile organic compounds (VOCs) within human breath. This technique is relatively inexpensive, robust and easy to use...... sophisticated statistical learning techniques for VOC-based feature selection and supervised classification into patient groups. We analyzed breath data from 84 volunteers, each of them either suffering from chronic obstructive pulmonary disease (COPD), or both COPD and bronchial carcinoma (COPD + BC), as well...... as from 35 healthy volunteers, comprising a control group (CG). We standardized and integrated several statistical learning methods to provide a broad overview of their potential for distinguishing the patient groups. We found that there is strong potential for separating MCC/IMS chromatograms of healthy...

  14. Multimodal Image Analysis in Alzheimer’s Disease via Statistical Modelling of Non-local Intensity Correlations

    Science.gov (United States)

    Lorenzi, Marco; Simpson, Ivor J.; Mendelson, Alex F.; Vos, Sjoerd B.; Cardoso, M. Jorge; Modat, Marc; Schott, Jonathan M.; Ourselin, Sebastien

    2016-04-01

    The joint analysis of brain atrophy measured with magnetic resonance imaging (MRI) and hypometabolism measured with positron emission tomography with fluorodeoxyglucose (FDG-PET) is of primary importance in developing models of pathological changes in Alzheimer’s disease (AD). Most of the current multimodal analyses in AD assume a local (spatially overlapping) relationship between MR and FDG-PET intensities. However, it is well known that atrophy and hypometabolism are prominent in different anatomical areas. The aim of this work is to describe the relationship between atrophy and hypometabolism by means of a data-driven statistical model of non-overlapping intensity correlations. For this purpose, FDG-PET and MRI signals are jointly analyzed through a computationally tractable formulation of partial least squares regression (PLSR). The PLSR model is estimated and validated on a large clinical cohort of 1049 individuals from the ADNI dataset. Results show that the proposed non-local analysis outperforms classical local approaches in terms of predictive accuracy while providing a plausible description of disease dynamics: early AD is characterised by non-overlapping temporal atrophy and temporo-parietal hypometabolism, while the later disease stages show overlapping brain atrophy and hypometabolism spread in temporal, parietal and cortical areas.

  15. The relationship between CAG repeat length and clinical progression in Huntington's disease.

    Science.gov (United States)

    Ravina, Bernard; Romer, Megan; Constantinescu, Radu; Biglan, Kevin; Brocht, Alicia; Kieburtz, Karl; Shoulson, Ira; McDermott, Michael P

    2008-07-15

    The objective of this study was to examine the relationship between CAG repeat length (CAGn) and clinical progression in patients with Huntington's disease (HD). There are conflicting reports about the relationship between CAGn and clinical progression of HD. We conducted an analysis of data from the Coenzyme Q10 and Remacemide Evaluation in Huntington's Disease (CARE-HD) clinical trial. We modeled progression over 30 months on the Unified Huntington's Disease Rating Scale (UHDRS) and supplemental neuropsychological and behavioral tests using multiple linear regression. Mean subject age was 47.9 +/- 10.5 years and mean CAGn was 45.0 +/- 4.1. Multiple linear regression revealed statistically significant associations between CAGn and worsening on several motor, cognitive, and functional outcomes, but not behavioral outcomes. Many effects were clinically important; 10 additional CAG repeats were associated with an 81% increase in progression on the Independence Scale. These associations were not observed in the absence of age adjustment. Age at the time of assessment confounds the association between CAGn and progression. Adjusting for age shows that longer CAGn is associated with greater clinical progression of HD. This finding may account for the variable results from previous studies examining CAGn and progression. Adjusting for CAGn may be important for clinical trials.

  16. Food consumption and the actual statistics of cardiovascular diseases: an epidemiological comparison of 42 European countries

    Directory of Open Access Journals (Sweden)

    Pavel Grasgruber

    2016-09-01

    Full Text Available Background: The aim of this ecological study was to identify the main nutritional factors related to the prevalence of cardiovascular diseases (CVDs in Europe, based on a comparison of international statistics. Design: The mean consumption of 62 food items from the FAOSTAT database (1993–2008 was compared with the actual statistics of five CVD indicators in 42 European countries. Several other exogenous factors (health expenditure, smoking, body mass index and the historical stability of results were also examined. Results: We found exceptionally strong relationships between some of the examined factors, the highest being a correlation between raised cholesterol in men and the combined consumption of animal fat and animal protein (r=0.92, p<0.001. The most significant dietary correlate of low CVD risk was high total fat and animal protein consumption. Additional statistical analyses further highlighted citrus fruits, high-fat dairy (cheese and tree nuts. Among other non-dietary factors, health expenditure showed by far the highest correlation coefficients. The major correlate of high CVD risk was the proportion of energy from carbohydrates and alcohol, or from potato and cereal carbohydrates. Similar patterns were observed between food consumption and CVD statistics from the period 1980–2000, which shows that these relationships are stable over time. However, we found striking discrepancies in men's CVD statistics from 1980 and 1990, which can probably explain the origin of the ‘saturated fat hypothesis’ that influenced public health policies in the following decades. Conclusion: Our results do not support the association between CVDs and saturated fat, which is still contained in official dietary guidelines. Instead, they agree with data accumulated from recent studies that link CVD risk with the high glycaemic index/load of carbohydrate-based diets. In the absence of any scientific evidence connecting saturated fat with CVDs, these

  17. Chronic liver disease in Kuala Lumpur, Malaysia: a clinical study.

    Science.gov (United States)

    Kudva, M V; Zawawi, M M

    1990-08-01

    This study was undertaken to analyse the clinical spectrum of chronic liver disease (cirrhosis, and others with portal hypertension) in Kuala Lumpur. Eighty patients were diagnosed over a 6-year period. Twenty-two had biopsy proven cirrhosis while 58 others had portal hypertension with clinical and biochemical evidence of chronic liver disease. The commonest aetiology was alcohol (36%), followed by the idiopathic variety and hepatitis B. The male to female ratio was 4.4:1. Indians had a high prevalence of alcohol-associated chronic liver disease. Overall, ascites was the commonest presentation. Eight patients presented with hepatocellular carcinoma. Spontaneous bacterial peritonitis was diagnosed in 13% of patients undergoing abdominal paracentesis. Gallstones were detected in 37% of patients who underwent ultrasonography. Diabetes mellitus and peptic ulcer disease were noted in 22% and 31% of patients respectively.

  18. Statistical inference on censored data for targeted clinical trials under enrichment design.

    Science.gov (United States)

    Chen, Chen-Fang; Lin, Jr-Rung; Liu, Jen-Pei

    2013-01-01

    For the traditional clinical trials, inclusion and exclusion criteria are usually based on some clinical endpoints; the genetic or genomic variability of the trial participants are not totally utilized in the criteria. After completion of the human genome project, the disease targets at the molecular level can be identified and can be utilized for the treatment of diseases. However, the accuracy of diagnostic devices for identification of such molecular targets is usually not perfect. Some of the patients enrolled in targeted clinical trials with a positive result for the molecular target might not have the specific molecular targets. As a result, the treatment effect may be underestimated in the patient population truly with the molecular target. To resolve this issue, under the exponential distribution, we develop inferential procedures for the treatment effects of the targeted drug based on the censored endpoints in the patients truly with the molecular targets. Under an enrichment design, we propose using the expectation-maximization algorithm in conjunction with the bootstrap technique to incorporate the inaccuracy of the diagnostic device for detection of the molecular targets on the inference of the treatment effects. A simulation study was conducted to empirically investigate the performance of the proposed methods. Simulation results demonstrate that under the exponential distribution, the proposed estimator is nearly unbiased with adequate precision, and the confidence interval can provide adequate coverage probability. In addition, the proposed testing procedure can adequately control the size with sufficient power. On the other hand, when the proportional hazard assumption is violated, additional simulation studies show that the type I error rate is not controlled at the nominal level and is an increasing function of the positive predictive value. A numerical example illustrates the proposed procedures.

  19. Quality Assurance in Clinical Chemistry: A Touch of Statistics and A Lot of Common Sense

    Directory of Open Access Journals (Sweden)

    Theodorsson Elvar

    2016-04-01

    Full Text Available Working in laboratories of clinical chemistry, we risk feeling that our personal contribution to quality is small and that statistical models and manufacturers play the major roles. It is seldom sufficiently acknowledged that personal knowledge, skills and common sense are crucial for quality assurance in the interest of patients. The employees, environment and procedures inherent to the laboratory including its interactions with the clients are crucial for the overall result of the total testing chain. As the measurement systems, reagents and procedures are gradually improved, work on the preanalytical, postanalytical and clinical phases is likely to pay the most substantial dividends in accomplishing further quality improvements. This means changing attitudes and behaviour, especially of the users of the laboratory. It requires understanding people and how to engage them in joint improvement processes. We need to use our knowledge and common sense expanded with new skills e.g. from the humanities, management, business and change sciences in order to bring this about together with the users of the laboratory.

  20. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49¿500. Among routinely used diagnostic tests, none were consiste......This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49¿500. Among routinely used diagnostic tests, none were...

  1. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were consiste......This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were...

  2. Clinical Analysis of Algerian Patients with Pompe Disease

    Science.gov (United States)

    Medjroubi, M.; Froissart, R.; Taghane, N.; Sifi, K.; Benhabiles, A.; Lemai, S.; Semra, S.; Benmekhebi, H.; Bouderda, Z.; Abadi, N.; Hamri, A.

    2017-01-01

    Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA), also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe's disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD)) typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Most of them die within the first year of life from cardiac and/or respiratory failure. In the majority of cases of Pompe's disease, onset of symptoms occurs after infancy, ranging widely from the first to sixth decade of life (late-onset Pompe's disease or LOPD). Progression of the disease is relentless and patients eventually progress to loss of ambulation and death due to respiratory failure. The objective of this study was to characterize the clinical presentation of 6 patients (3 with EOPD and the other 3 with LOPD) of 5 families from the East of Algeria. All our patients were diagnosed as having Pompe's disease based on biochemical confirmations of GAA deficiency by dried blood spots (DBS) and GAA gene mutations were analyzed in all patients who consented (n = 4). Our results are similar to other ethnic groups. PMID:28265479

  3. Evaluation of medication treatment for Alzheimer's disease on clinical evidence

    Directory of Open Access Journals (Sweden)

    Meng-qiu LI

    2014-03-01

    Full Text Available Objective To formulate the best treatment plan for Alzheimer's disease patients by evaluating the therapeutic efficacy and side effect of various evidence-based programs. Methods Alzheimer's disease, donepezil, rivastigmine, galantamine, memantine, rosiglitazone, etc. were defined as retrieval words. PubMed, Cochrane Library, Wanfang Data and China National Knowledge Infrastructure (CNKI databases were used with applying of manual searching. Systematic reviews, randomized controlled trials (RCT, controlled clinical trials and case-observation studies were collected and evaluated by Jadad Scale. Results After screening, 33 selected resources included 14 systematic reviews, 14 randomized controlled trials, 4 controlled clinical trials and 1 case-observation study. According to Jadad Scale, total 28 articles were evaluated to be high quality (12 with score 4, 10 score 5, 6 score 7, and 5 were low quality with score 3. It was summarized as follows: 1 Alzheimer's disease is a progressive neurodegenerative disease for which no cure exists. To date, only symptomatic treatments with cholinesterase inhibitors (donepezil, rivastigmine, galantamine and an N-methyl-D-aspartate (NMDA receptor noncompetitive antagonist (memantine, are effective and well tolerated to counterbalance the neurotransmitter disturbance, but cannot limit or impact on disease progression. 2 Disease modifying drug is an potential agent, with persistent effect on slowing the progression of structural damage, and can be detected even after withdrawing the treatment. Many types of disease modifying drugs are undergoing clinical trials. Conclusions Using evidence-based medicine methods can provide best clinical evidence on Alzheimer's disease treatment. doi: 10.3969/j.issn.1672-6731.2014.03.009

  4. Parthenium dermatitis severity score to assess clinical severity of disease

    OpenAIRE

    Kaushal K Verma; Arika Bansal; Neetu Bhari; Gomathy Sethuraman

    2017-01-01

    Background: Parthenium dermatitis is the most common type of airborne contact dermatitis in India. It is a chronic disease of a remitting and relapsing course with significant morbidity and distress, but there is no scoring system to assess its severity. Aim: To design a scoring system for the assessment of clinical severity of disease in Parthenium dermatitis and to use this scoring system in various studies to determine its sensitivity, specificity, and reproducibility. Methods and Results:...

  5. Ledderhose Disease: Clinical, Radiological (Ultrasound and MRI), and Anatomopathological Findings

    OpenAIRE

    Omor, Y.; Dhaene, B.; Grijseels, S.; Alard, S.

    2015-01-01

    Plantar fibromatosis, or Ledderhose disease, is a rare hyperproliferative disorder of the plantar aponeurosis. It may occur at any age, with the greatest prevalence at middle age and beyond. This disorder is more common in men than woman and it is sometimes associated with other forms of fibromatosis. Diagnosis is based on clinical examination. Ultrasound (US) and magnetic resonance imaging (MRI) can be useful to confirm the diagnosis. A 44-year-old man with Ledderhose disease who underwent u...

  6. Discussing sexuality with patients in a motor neurone disease clinic.

    Science.gov (United States)

    Marsden, Rachael; Botell, Rachel

    Sexual relationships remain an important aspect of life for people living with motor neurone disease. This article explores the use of the Extended-PLISSIT model when discussing relationships and sexual function with patients and their partners in a motor neurone disease clinic. The model provides a structured approach to assist discussions with patients as well as promoting reflection and exchange of knowledge in the multidisciplinary team. It is a useful model when addressing issues that are sometimes difficult to discuss.

  7. Finding falls in ambulatory care clinical documents using statistical text mining

    Science.gov (United States)

    McCart, James A; Berndt, Donald J; Jarman, Jay; Finch, Dezon K; Luther, Stephen L

    2013-01-01

    Objective To determine how well statistical text mining (STM) models can identify falls within clinical text associated with an ambulatory encounter. Materials and Methods 2241 patients were selected with a fall-related ICD-9-CM E-code or matched injury diagnosis code while being treated as an outpatient at one of four sites within the Veterans Health Administration. All clinical documents within a 48-h window of the recorded E-code or injury diagnosis code for each patient were obtained (n=26 010; 611 distinct document titles) and annotated for falls. Logistic regression, support vector machine, and cost-sensitive support vector machine (SVM-cost) models were trained on a stratified sample of 70% of documents from one location (dataset Atrain) and then applied to the remaining unseen documents (datasets Atest–D). Results All three STM models obtained area under the receiver operating characteristic curve (AUC) scores above 0.950 on the four test datasets (Atest–D). The SVM-cost model obtained the highest AUC scores, ranging from 0.953 to 0.978. The SVM-cost model also achieved F-measure values ranging from 0.745 to 0.853, sensitivity from 0.890 to 0.931, and specificity from 0.877 to 0.944. Discussion The STM models performed well across a large heterogeneous collection of document titles. In addition, the models also generalized across other sites, including a traditionally bilingual site that had distinctly different grammatical patterns. Conclusions The results of this study suggest STM-based models have the potential to improve surveillance of falls. Furthermore, the encouraging evidence shown here that STM is a robust technique for mining clinical documents bodes well for other surveillance-related topics. PMID:23242765

  8. Clinical and nutritional profile of individuals with chagas disease

    Directory of Open Access Journals (Sweden)

    Juliana Geraix

    2007-08-01

    Full Text Available Chagas disease (CD, caused by the protozoan Trypanossoma cruzi, affects approximately 18 million individuals in the Americas, 5 million of which live in Brazil. Most chronic sufferers have either the indeterminate form of the disease, without organic compromise, or the cardiac or digestive forms. Despite the importance of this disease, there is no information on the effect of nutrition on CD evolution. We evaluated the clinical-nutritional profile of individuals with CD treated at the Tropical Diseases Nutrition Out-Patient Clinic of the Botucatu School of Medicine, UNESP. A retrospective cohort study was performed between 2002 and 2006, on 66 patients with serum and parasitological diagnosis of CD. Epidemiological, clinical, nutritional, and biochemical data were collected, including gender, age, skin color, smoking, alcoholism, physical activity, weight, stature, body mass index, abdominal circumference, glycemia, and lipid profile. Fifty-three percent were male and 47% female; 96% were white skinned. Mean age was 49.6±6.36 years. The predominant form was indeterminate in 71%; smoking and drinking were recorded in 23% and 17%, respectively. Sedentariness predominated in 83%, and 55% presented increased abdominal circumference. Most, 94%, were overweight or obese. The biochemical exams revealed hyperglycemia in 12% and dyslipidemia in 74%. These findings suggest that the Chagas population presents co-morbidities and risk factors for developing chronic non-transmissible diseases, including cardiovascular diseases, making CD evolution even worse.

  9. Clinical and nutritional profile of individuals with Chagas disease.

    Science.gov (United States)

    Geraix, Juliana; Ardisson, Lidiane Paula; Marcondes-Machado, Jussara; Pereira, Paulo Câmara Marques

    2007-08-01

    Chagas disease (CD), caused by the protozoan Trypanossoma cruzi, affects approximately 18 million individuals in the Americas, 5 million of which live in Brazil. Most chronic sufferers have either the indeterminate form of the disease, without organic compromise, or the cardiac or digestive forms. Despite the importance of this disease, there is no information on the effect of nutrition on CD evolution. We evaluated the clinical-nutritional profile of individuals with CD treated at the Tropical Diseases Nutrition Out-Patient Clinic of the Botucatu School of Medicine, UNESP. A retrospective cohort study was performed between 2002 and 2006, on 66 patients with serum and parasitological diagnosis of CD. Epidemiological, clinical, nutritional, and biochemical data were collected, including gender, age, skin color, smoking, alcoholism, physical activity, weight, stature, body mass index, abdominal circumference, glycemia, and lipid profile. Fifty-three percent were male and 47% female; 96% were white skinned. Mean age was 49.6 +/- 6.36 years. The predominant form was indeterminate in 71%; smoking and drinking were recorded in 23% and 17%, respectively. Sedentariness predominated in 83%, and 55% presented increased abdominal circumference. Most, 94%, were overweight or obese. The biochemical exams revealed hyperglycemia in 12% and dyslipidemia in 74%. These findings suggest that the Chagas population presents co-morbidities and risk factors for developing chronic non-transmissible diseases, including cardiovascular diseases, making CD evolution even worse.

  10. [Analysis of clinical pathway in changing and disabling neurological diseases].

    Science.gov (United States)

    Cordesse, V; Jametal, T; Guy, C; Lefebvre, S; Roussel, M; Ruggeri, J; Schimmel, P; Holstein, J; Meininger, V

    2013-01-01

    Neurological diseases are characterized by the complexity of care and by a constant and changing disability. More and more frequently, their impact on the clinical pathway remains unknown. Seven postgraduate rehabilitation students (Master coordination du handicap, université Pierre-et-Marie-Curie, Paris) reconstructed the clinical pathway of 123 patients with various neurological diseases: multiple sclerosis, Alzheimer disease, amyotrophic lateral sclerosis, spinal trauma, Parkinson disease and brain tumors. There was a significant correlation between disease duration and the number of specialists involved in care, the number of prescribed drugs and the number of short-term hospitalizations; there was no correlation with age. This result suggests that with time an increasing number of complications related to the initial neurological disease developed. Hospitalization in rehabilitation units was highly correlated with the degree of disability and also with the help received by the patients during the course of their disease. This result suggests that these hospitalizations were a direct consequence of burn out among relatives. General practitioners (GP) were highly involved only during the initial part of the pathway, and their involvement rapidly declined thereafter, suggesting a probable relation with the specificities and the complexity of care for neurological diseases which induces a progressive transfer of responsibilities from the GP to the hospital. Social care was always incomplete and occurred too late during the course of the disease. The feeling by the patients that their care pathway was chaotic was highly correlated with the quality of the information given to the patient at the time of the announcement of their disease. This study confirms that cares for neurological diseases is highly specific and that expert centers and coordination networks are in a key position to ensure an efficient care pathway.

  11. Generating a robust statistical causal structure over 13 cardiovascular disease risk factors using genomics data.

    Science.gov (United States)

    Yazdani, Azam; Yazdani, Akram; Samiei, Ahmad; Boerwinkle, Eric

    2016-04-01

    Understanding causal relationships among large numbers of variables is a fundamental goal of biomedical sciences and can be facilitated by Directed Acyclic Graphs (DAGs) where directed edges between nodes represent the influence of components of the system on each other. In an observational setting, some of the directions are often unidentifiable because of Markov equivalency. Additional exogenous information, such as expert knowledge or genotype data can help establish directionality among the endogenous variables. In this study, we use the method of principle component analysis to extract information across the genome in order to generate a robust statistical causal network among phenotypes, the variables of primary interest. The method is applied to 590,020 SNP genotypes measured on 1596 individuals to generate the statistical causal network of 13 cardiovascular disease risk factor phenotypes. First, principal component analysis was used to capture information across the genome. The principal components were then used to identify a robust causal network structure, GDAG, among the phenotypes. Analyzing a robust causal network over risk factors reveals the flow of information in direct and alternative paths, as well as determining predictors and good targets for intervention. For example, the analysis identified BMI as influencing multiple other risk factor phenotypes and a good target for intervention to lower disease risk.

  12. Currently Clinical Views on Genetics of Wilson's Disease

    Institute of Scientific and Technical Information of China (English)

    Chen Chen; Bo Shen; Jia-Jia Xiao; Rong Wu; Sarah Jane Duff Canning; Xiao-Ping Wang

    2015-01-01

    Objective:The objective of this study was to review the research on clinical genetics of Wilson's disease (WD).Data Sources:We searched documents from PubMed and Wanfang databases both in English and Chinese up to 2014 using the keywords WD in combination with genetic,ATP7B gene,gene mutation,genotype,phenotype.Study Selection:Publications about the ATP7B gene and protein function associated with clinical features were selected.Results:Wilson's disease,also named hepatolenticular degeneration,is an autosomal recessive genetic disorder characterized by abnormal copper metabolism caused by mutations to the copper-transporting gene A TP7B.Decreased biliary copper excretion and reduced incorporation of copper into apoceruloplasmin caused by defunctionalization of ATP7B protein lead to accumulation of copper in many tissues and organs,including liver,brain,and cornea,finally resulting in liver disease and extrapyramidal symptoms.It is the most common genetic neurological disorder in the onset of adolescents,second to muscular dystrophy in China.Early diagnosis and medical therapy are of great significance for improving the prognosis of WD patients.However,diagnosis of this disease is usually difficult because of its complicated phenotypes.In the last 10 years,an increasing number of clinical studies have used molecular genetics techniques.Improved diagnosis and prediction of the progression of this disease at the molecular level will aid in the development of more individualized and effective interventions,which is a key to transition from molecular genetic research to the clinical study.Conclusions:Clinical genetics studies are necessary to understand the mechanism underlying WD at the molecular level from the genotype to the phenotype.Clinical genetics research benefits newly emerging medical treatments including stem cell transplantation and gene therapy for WD patients.

  13. [Clinical guidelines for infantile-onset Pompe disease].

    Science.gov (United States)

    Pascual-Pascual, S I; Nascimento, A; Fernandez-Llamazares, C M; Medrano-Lopez, C; Villalobos-Pinto, E; Martinez-Moreno, M; Ley, M; Manrique-Rodriguez, S; Blasco-Alonso, J

    2016-09-16

    Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.

  14. Diagnosis of digestive functional disease by the statistics of continuous monitoring of esophageal acidity

    Science.gov (United States)

    Rivera Landa, Rogelio; Cardenas Cardenas, Eduardo; Fossion, Ruben; Pérez Zepeda, Mario Ulises

    2014-11-01

    Technological advances in the last few decennia allow the monitoring of many physiological observables in a continuous way, which in physics is called a "time series". The best studied physiological time series is that of the heart rhythm, which can be derived from an electrocardiogram (ECG). Studies have shown that a healthy heart is characterized by a complex time series and high heart rate variability (HRV). In adverse conditions, the cardiac time series degenerates towards randomness (as seen in, e.g., fibrillation) or rigidity (as seen in, e.g., ageing), both corresponding to a loss of HRV as described by, e.g., Golberger et. al [1]. Cardiac and digestive rhythms are regulated by the autonomous nervous system (ANS), that consists of two antagonistic branches, the orthosympathetic branch (ONS) that accelerates the cardiac rhythm but decelerates the digestive system, and the parasympathetic brand (PNS) that works in the opposite way. Because of this reason, one might expect that the statistics of gastro-esophageal time series, as described by Gardner et. al. [2,3], reflects the health state of the digestive system in a similar way as HRV in the cardiac case, described by Minocha et. al. In the present project, we apply statistical methods derived from HRV analysis to time series of esophageal acidity (24h pHmetry). The study is realized on data from a large patient population from the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Our focus is on patients with functional disease (symptoms but no anatomical damage). We find that traditional statistical approaches (e.g. Fourier spectral analysis) are unable to distinguish between different degenerations of the digestive system, such as gastric esophageal reflux disease (GERD) or functional gastrointestinal disorder (FGID).

  15. Genetics of liver disease: From pathophysiology to clinical practice.

    Science.gov (United States)

    Karlsen, Tom H; Lammert, Frank; Thompson, Richard J

    2015-04-01

    Paralleling the first 30 years of the Journal of Hepatology we have witnessed huge advances in our understanding of liver disease and physiology. Genetic advances have played no small part in that. Initial studies in the 1970s and 1980s identified the strong major histocompatibility complex associations in autoimmune liver diseases. During the 1990 s, developments in genomic technologies drove the identification of genes responsible for Mendelian liver diseases. Over the last decade, genome-wide association studies have allowed for the dissection of the genetic susceptibility to complex liver disorders, in which also environmental co-factors play important roles. Findings have allowed the identification and elaboration of pathophysiological processes, have indicated the need for reclassification of liver diseases and have already pointed to new disease treatments. In the immediate future genetics will allow further stratification of liver diseases and contribute to personalized medicine. Challenges exist with regard to clinical implementation of rapidly developing technologies and interpretation of the wealth of accumulating genetic data. The historical perspective of genetics in liver diseases illustrates the opportunities for future research and clinical care of our patients.

  16. Podometrics as a Potential Clinical Tool for Glomerular Disease Management.

    Science.gov (United States)

    Kikuchi, Masao; Wickman, Larysa; Hodgin, Jeffrey B; Wiggins, Roger C

    2015-05-01

    Chronic kidney disease culminating in end-stage kidney disease is a major public health problem costing in excess of $40 billion per year with high morbidity and mortality. Current tools for glomerular disease monitoring lack precision and contribute to poor outcome. The podocyte depletion hypothesis describes the major mechanisms underlying the progression of glomerular diseases, which are responsible for more than 80% of cases of end-stage kidney disease. The question arises of whether this new knowledge can be used to improve outcomes and reduce costs. Podocytes have unique characteristics that make them an attractive monitoring tool. Methodologies for estimating podocyte number, size, density, glomerular volume and other parameters in routine kidney biopsies, and the rate of podocyte detachment from glomeruli into urine (podometrics) now have been developed and validated. They potentially fill important gaps in the glomerular disease monitoring toolbox. The application of these tools to glomerular disease groups shows good correlation with outcome, although data validating their use for individual decision making is not yet available. Given the urgency of the clinical problem, we argue that the time has come to focus on testing these tools for application to individualized clinical decision making toward more effective progression prevention.

  17. Analysis of risk factors and clinical manifestations associated with Clostridium difficile disease in Serbian hospitalized patients

    Directory of Open Access Journals (Sweden)

    Stojanović Predrag

    Full Text Available Abstract Clostridium difficile is the leading cause of infectious diarrhoea in hospitalized patients. The aim of this study was to determine the risk factors important for the development of hospital-acquired Clostridium difficile-associated disease and clinical manifestations of Clostridium difficile-associated disease. The clinical trial group included 37 hospitalized patients who were selected according to the inclusion criteria. A control group of 74 hospitalized patients was individually matched with cases based on hospital, age (within 4 years, sex and month of admission.Clostridium difficile-associated disease most commonly manifested as diarrhoea (56.76% and colitis (32%, while in 8.11% of patients, it was diagnosed as pseudomembranous colitis, and in one patient, it was diagnosed as fulminant colitis. Statistically significant associations (p < 0.05 were found with the presence of chronic renal failure, chronic obstructive pulmonary disease, cerebrovascular accident (stroke and haemodialysis. In this study, it was confirmed that all the groups of antibiotics, except for tetracycline and trimethoprim-sulfamethoxazole, were statistically significant risk factors for Clostridium difficile-associated disease (p < 0.05. However, it was difficult to determine the individual role of antibiotics in the development of Clostridium difficile-associated disease. Univariate logistic regression also found that applying antibiotic therapy, the duration of antibiotic therapy, administration of two or more antibiotics to treat infections, administering laxatives and the total number of days spent in the hospital significantly affected the onset of Clostridium difficile-associated disease (p < 0.05, and associations were confirmed using the multivariate model for the application of antibiotic therapy (p = 0.001, duration of antibiotic treatment (p = 0.01, use of laxatives (p = 0.01 and total number of days spent in the hospital (p = 0.001. In this study

  18. Do clinical factors help to predict disease course in inflammatory bowel disease?

    Institute of Scientific and Technical Information of China (English)

    Edouard; Louis; Jacques; Belaiche; Catherine; Reenaers

    2010-01-01

    While therapeutic strategies able to change the natural history of the disease are developing,it is of major importance to have available predictive factors for aggressive disease to try and target these therapeutic strategies.Clinical predictors have probably been the most broadly studied.In both Crohn's disease(CD) and ulcerative colitis(UC),age at diagnosis,disease location and smoking habit are currently the strongest predictors of disease course.A younger age at onset is associated with more aggressive...

  19. Neuronopathic Lysosomal Storage Diseases: Clinical and Pathologic Findings

    Science.gov (United States)

    Prada, Carlos E.; Grabowski, Gregory A.

    2013-01-01

    Background: The lysosomal--autophagocytic system diseases (LASDs) affect multiple body systems including the central nervous system (CNS). The progressive CNS pathology has its onset at different ages, leading to neurodegeneration and early death. Methods: Literature review provided insight into the current clinical neurological findings,…

  20. Pharmacogenetics in Cardiovascular Disease is there clinical relevance?

    NARCIS (Netherlands)

    Maitland-Van Der Zee, A.

    2014-01-01

    • Objectives: To give an up-to-date overview of the research in pharmacogenetics of cardiovascular disease, and the clinical implications of this research. • Methods: In this lecture I will focus on these groups cardiovascular drugs where many pharmacogenetics studies have been performed (including

  1. Childhood Pompe disease: clinical spectrum and genotype in 31 patients

    NARCIS (Netherlands)

    Capelle, C.I. van; Meijden, J.C. van der; Hout, J.M. van den; Jaeken, J.; Baethmann, M.; Voit, T.; Kroos, M.A.; Derks, T.G.; Rubio-Gozalbo, M.E.; Willemsen, M.A.A.P.; Lachmann, R.H.; Mengel, E.; Michelakakis, H.; Jongste, J.C. de; Reuser, A.J.; Ploeg, A.T. van der

    2016-01-01

    BACKGROUND: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger than 18 years, who had been evaluated at the Pompe Center in Rotterdam, the Net

  2. Childhood Pompe disease: Clinical spectrum and genotype in 31 patients

    NARCIS (Netherlands)

    C.I. van Capelle (Carine); J.C. van der Meijden (J.); J.M.P. van den Hout (Johanna); J. Jaeken; M. Baethmann; T. Voit; M.A. Kroos (Marian); T.G.J. Derks (Terry G J); M.E. Rubio-Gozalbo (Estela); M.A. Willemsen (Michél); R. Lachmann (Robin); E. Mengel; H. Michelakakis (Helen); J.C. de Jongste (Johan); A.J.J. Reuser (Arnold); A.T. van der Ploeg (Ans)

    2016-01-01

    textabstractBackground: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger than 18 years, who had been evaluated at the Pompe Center in Rotter

  3. Childhood Pompe disease : clinical spectrum and genotype in 31 patients

    NARCIS (Netherlands)

    van Capelle, C I; van der Meijden, J C; van den Hout, J M P; Jaeken, J; Baethmann, M; Voit, T; Kroos, M A; Derks, T G J; Rubio-Gozalbo, M E; Willemsen, M A; Lachmann, R H; Mengel, E; Michelakakis, H; de Jongste, J C; Reuser, A J J; van der Ploeg, A T

    2016-01-01

    BACKGROUND: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger than 18 years, who had been evaluated at the Pompe Center in Rotterdam, the Net

  4. DNA-abzymes in autoimmune diseases in clinic and experiment

    Directory of Open Access Journals (Sweden)

    T E Naumova

    2003-01-01

    Full Text Available DNA-abzymes enzymes in autoimmune diseases in clinic and experiment T.E. Naumova, O.M. Durova, A.G. Gabibov, Z.S. Alekberova, S. V. Suchkov DNA-hydrolyzing autoantibodies (AAB or DNA-abzymes can be found in autoimmune diseases in clinic and experiment. Technology of serum express screening for presence of DNA abzymes is described. Comparative study of DNA-hydrolising activity in patients with different forms of systemic and organ-specific autoimmune diseases was performed. Blood of clinically healthy donors was usually free of IgG DNA-abzymes. DNA-abzymes were most often revealed in patients with systemic lupus erythematosus (SLE and rheumatoid arthritis (RA less often in patients with organ-specific forms of autoimmune disturbances. The results of the study confirm the hypothesis of autoimmune origin of IgG DNA abzymes and demonstrate the possibility to use them in clinical practice for monitoring to disease activity in SLE and RA.

  5. The clinical spectrum of humidifier disease in synthetic fiber plants

    NARCIS (Netherlands)

    Pal, TM; deMonchy, JGR; Groothoff, JW; Post, D

    1997-01-01

    In a synthetic fiber production site with recirculating cold water humidification systems and small-size-particle (> 0.1 mu <1 mu) oil mist exposure, humidifier disease was diagnosed in several workers. The patients could be divided into three groups illustrating the clinical spectrum of humidifier

  6. Functional capacity of Brazilian patients with Parkinson's disease (PD): relationship between clinical characteristics and disease severity.

    Science.gov (United States)

    Barbieri, Fabio A; Rinaldi, Natalia M; Santos, Paulo Cezar R; Lirani-Silva, Ellen; Vitório, Rodrigo; Teixeira-Arroyo, Cláudia; Stella, Florindo; Gobbi, Lilian Teresa B

    2012-01-01

    The present study had three objectives: (a) to characterize the functional capacity of patients with PD, (b) to assess the relationship between the physical fitness components of functional capacity with clinical characteristics and disease severity, and (c) to compare the physical fitness components of functional capacity with clinical characteristics according to disease severity. The study included 54 patients with idiopathic PD who were distributed into two groups according to PD severity: unilateral group (n=35); and bilateral group (n=19). All patients underwent psychiatric assessment by means of the Hoehn and Yahr (HY) staging of PD, the Unified Parkinson's Disease Rating Scale (UPDRS), the Hospital Anxiety and Depression Scale (HADS-A and HADS-D, respectively), and The Mini-Mental State Examination (MMSE). The physical fitness components of functional capacity were evaluated over a 2-day period, using recommendations by the American Alliance for Health, Physical Education, Recreation and Dance, and the Berg Balance Scale (BBS). Pearson correlation coefficients and multiple regressions were calculated to test the correlation between functional capacity and clinical characteristics, and to predict clinical scores from physical performance, respectively. Clinical variables and physical component data were compared between groups using analysis of variance to determine the effects of disease severity. Patients with advanced disease showed low levels of functional capacity. Interestingly, patients with good functional capacity in one of the physical fitness components also showed good capacities in the other components. Disease severity is a major factor affecting functional capacity and clinical characteristics. Medical providers should take disease severity into consideration when prescribing physical activity for PD patients, since the relationship between functional capacity and clinical characteristics is dependent on disease severity.

  7. Bimelic Hirayama Disease: Clinical Dilemma Solved by Imaging

    Directory of Open Access Journals (Sweden)

    Shalabh Jain

    2013-01-01

    Full Text Available Hirayama disease (juvenile muscular atrophy of distal upper extremity is a cervical myelopathy predominantly affecting adolescent males. It is characterized by progressive muscular weakness and atrophy of unilateral or asymmetrically bilateral distal upper limbs. We report a case of an 18-year-male painter, who presented with gradually progressive, symmetrical bilateral weakness of hands and forearm for the last two years. On the basis of clinical examination, a provisional diagnosis of lower motor neuron type of symmetrical distal weakness due to heavy metal intoxication was kept. However, imaging studies helped in making a definitive diagnosis of Hirayama disease. The patient was advised cervical collar, and there was no progression in symptoms after six months of followup. Due to the rarity of bilateral symmetrical involvement in Hirayama disease, it remains obscured or unsuspected clinically, and MRI plays a pivotal role in diagnosis.

  8. Sexually transmitted diseases: epidemiological and clinical aspects in adults.

    Science.gov (United States)

    Siracusano, Salvatore; Silvestri, Tommaso; Casotto, Daniela

    2014-01-01

    Sexually transmitted diseases (STDs) are the first 10 causes of unpleased diseases in young adult women in the world. The concept of STDs includes a series of syndromes caused by pathogens that can be acquired by sexual intercourse or sexual activity.Adolescents and young adults are responsible for only 25% of the sexually active population and they represent almost 50% of all newly acquired STDs.In this way, we evaluated the epidemiological and clinical aspects of most relevant pathogens as Neisseria gonorrhoeae, Chlamydia trachomatis, Treponema pallidum, Haemophilus Ducreyi, Trichomonas vaginalis, herpes simplex virus, human papilloma virus (HPV) with the exception of hepatitis, and HIV infections for which we suggest specific guidelines.To attain this objective, we analyzed the results of epidemiological and clinical aspects of STDs through a review of the literature using MEDLINE and PubMed database for original articles published using the terms "sexual transmitted disease, epidemiology, diagnosis and therapy" from 2005 to 2014.

  9. Etiological and clinical analysis on 220 children with cerebrovascular diseases

    Directory of Open Access Journals (Sweden)

    Zhi-hong TANG

    2014-03-01

    Full Text Available Etiological and clinical analyses of 220 children with cerebrovascular diseases were retrospectively analyzed. One hundred and forty-nine cases (67.73% were male, and 71 cases (32.27% were female. There were 186 cases (84.55% of patients to be found with clear causes, most of which were arteriovenous malformation (80/220, 36.36%, traumatic brain injury (38/220, 17.27%, intracranial infection (15/220, 6.82% , intracranial aneurysm (13/220, 5.91% , delayed vitamin K deficiency (12/220, 5.45% , congenital heart disease (9/220, 4.09% and cavernous malformation (7/220, 3.18%. The etiological and clinical features of children cerebrovascular diseases are distinct, and timely diagnosis and treatment will help to improve patients' prognosis. doi: 10.3969/j.issn.1672-6731.2014.03.017

  10. Using multitype branching processes to quantify statistics of disease outbreaks in zoonotic epidemics

    Science.gov (United States)

    Singh, Sarabjeet; Schneider, David J.; Myers, Christopher R.

    2014-03-01

    Branching processes have served as a model for chemical reactions, biological growth processes, and contagion (of disease, information, or fads). Through this connection, these seemingly different physical processes share some common universalities that can be elucidated by analyzing the underlying branching process. In this work we focus on coupled branching processes as a model of infectious diseases spreading from one population to another. An exceedingly important example of such coupled outbreaks are zoonotic infections that spill over from animal populations to humans. We derive several statistical quantities characterizing the first spillover event from animals to humans, including the probability of spillover, the first passage time distribution for human infection, and disease prevalence in the animal population at spillover. Large stochastic fluctuations in those quantities can make inference of the state of the system at the time of spillover difficult. Focusing on outbreaks in the human population, we then characterize the critical threshold for a large outbreak, the distribution of outbreak sizes, and associated scaling laws. These all show a strong dependence on the basic reproduction number in the animal population and indicate the existence of a novel multicritical point with altered scaling behavior. The coupling of animal and human infection dynamics has crucial implications, most importantly allowing for the possibility of large human outbreaks even when human-to-human transmission is subcritical.

  11. Study on clinical symptoms in canine cardiac diseases

    Directory of Open Access Journals (Sweden)

    F. Karlette Anne

    Full Text Available Cardiac diseases in canines are an extensively studied phenomenon all over the world but meagre information has been reported in India. Certain problems, including historical, physical, and laboratory abnormalities, are associated with cardiovascular or pulmonary disease. In India however, the recognition of canine cardiac diseases has been delayed, and ignored on account of lack of awareness and knowledge by the owner and inadequate diagnostic facility to a field veterinarian. Considering the above facts, the present study was undertaken in Gujarat to survey the prevalence of common cardiac diseases in hospital population of dogs along with the clinical symptoms which often goes undetected due to lack of proper diagnostic techniques to be implied and the most forms of heart disease may be present for many years before any evidence of failure develops. In the present study most of the clinical cases of cardiac diseases were presented with a history of nocturnal coughing (seven cases; 2.55%, exercise intolerance (five cases; 1.82%, partial or complete anorexia (five cases; 1.82%, swelling in abdominal area (four cases; 1.45%, dullness and depression (two cases; 0.72%, cachexia and hepatojugular pulsation (one case each; 0.36% each at times. [Vet World 2009; 2(8.000: 307-309

  12. Analysis of clinical manifestations of symptomatic acquired jejunoileal diverticular disease

    Institute of Scientific and Technical Information of China (English)

    Chia-Yuan Liu; Wen-Hsiung Chang; Shee-Chan Lin; Cheng-Hsin Chu; Tsang-En Wang; Shou-Chuan Shih

    2005-01-01

    AIM: To analyze systematically our experience over 22 years with symptomatic acquired diverticular disease of the jejunum and ileum, exploring the clinical manifestations and diagnosis of this rare but life-threatening disease.METHODS: The medical records of patients with surgically confirmed symptomatic jejunoileal diverticular disease were retrospectively reviewed. Data collected included demographic data, laboratory results, clinical course (acute or chronic), preoperative diagnosis, and operative findings. Inclusion criteria were as follows: (1) surgical confirmation of jejunoileal diverticular disease and (2)exclusion of congenital diverticula (e.g. Meckel's diverticulum).RESULTS: From January 1982 to July 2004, 28 patients with a total of 29 operations met the study criteria. The male:female ratio was 14:14, and the mean age was 62.6±3.5 years. The most common manifestation was abdominal pain. In nearly half of the patients, the symptoms were chronic. Two patients died after surgery. Only four cases were correctly diagnosed prior to surgery, three by small bowel series.CONCLUSION: Symptomatic acquired small bowel diverticular disease is difficult to diagnose. It should be considered in older patients with unexplained chronic abdominal symptoms. A small bowel series may be helpful in diagnosing this potentially life-threatening disease.

  13. The application of disease management to clinical trial designs.

    Science.gov (United States)

    Puterman, Jared; Alter, David A

    2009-08-01

    The utilization of disease management (DM) as a minimum standard of care is believed to facilitate pronounced benefits in overall patient outcome and cost management. Randomized clinical trials remain the gold standard evaluative tool in clinical medicine. However, the extent to which contemporary cardiovascular clinical trials incorporate DM components into their treatment or control arms is unknown. Our study is the first to evaluate the extent to which clinical trials incorporate DM as a minimum standard of care for both the intervention and control groups. In total, 386 clinical trials published in 3 leading medical journals between 2003 and 2006 were evaluated. For each study, elements related to DM care, as defined using the American Heart Association Taxonomy, were abstracted and characterized. Our results demonstrate that while the application of DM has increased over time, only 3.4% of the clinical trials examined incorporated all 8 DM elements (and only 11% of such trials incorporated 4 DM elements). A significant association was found between study year and the inclusion of more than 3 elements of DM (chi(2) = 10.10 (3); p = 0.018). In addition, associations were found between study objective and DM criteria, as well as between cohort type and domains described. Our study serves as a baseline reference for the tracking of DM within, and its application to, randomized clinical trials. Moreover, our results underscore the need for broader implementation and evaluation of DM as a minimum care standard within clinical trial research.

  14. IMPULSIVE-COMPULSIVE DISORDERS IN PARKINSON'S DISEASE. CLINICAL CASES

    Directory of Open Access Journals (Sweden)

    N. V. Fedorova

    2015-01-01

    Full Text Available Objective – a description of clinical cases of impulsive­compulsive disorders in Parkinson,s disease. The first clinical case. Patient N., 75 years old, suffering for 15 years from Parkinson,s disease, akinetic­rigid form of the disease, stage 4 by Hyun–Yar. Since 2009, he received levodopa/carbidopa 250/25 mg 5 times/day (daily dose of 1250 mg of levodopa; pramipexole 3.5 mg per day (daily dose 3.5 mg, amantadine sulfate 100 mg 5 times/day (daily dose 500 mg. While taking antiparkinsonian drugs the patient developed behavioral disorders such as dopamine disregulatory syndrome combined with punding, hypersexuality and compulsive shopping accompanied by visual hallucinations. The total equivalent dose of levodopa was 1600 mg per day. The second clinical case. Patient R., 52 years old, suffers from Parkinson,s disease about 5 years, a mixed form. She complained of slowness of movement, tremor in her left hand, sleep disturbances, poor mood. The clinic was appointed piribedil 50 mg 3 times per day. Despite the fact that the patient took only one of dopaminergic drugs in a therapeutic daily dose, she developed impulsive­compulsive disorder as hyper­ sexuality, compulsive shopping and binge eating. Results. In the first clinical case for correction of behavioral disorders in patients with Parkinson,s disease levodopa/carbidopa dose was reduced to 750 mg per day (3/4 Tab. 4 times a day; added to levodopa/benserazide dispersible 100 mg morning and levodopa/benserazide 100 mg before sleep (total dose of levodopa of 950 mg per day. Amantadine sulfate and pramipexole were canceled. It was added to the therapy of atypical neuroleptic clozapine dose 6,25 mg overnight. After 3 months marked improvement, regressed visual hallucina­ tions, improved family relationships, background mood became more stable. The patient continue to sing karaoke, but this hobby has be­ come less intrusive. In the second clinical event correction impulsive

  15. Dementia with Parkinson's disease: Clinical diagnosis, neuropsychological aspects and treatment

    Directory of Open Access Journals (Sweden)

    Jorge Lorenzo Otero

    Full Text Available Abstract Dementia with Parkinson's disease represents a controversial issue in the complex group of alpha-synucleinopathies. The author acknowledges the concept of a "continuum" between Parkinson disease's (PD, Lewy body dementia (LBD, and dementia in Parkinson's disease (PDD. However, the practicing neurologist needs to identify the phenotypic signs of each dementia. The treatment and prognosis are different in spite of the overlaps between them. The main aim of this review was to characterize the clinical diagnoses of dementia associated with Parkinson's disease (PDD. Secondarily, the review discussed some epidemiological and neuropsychological issues. Selection of articles was not systematic and reflects the author's opinion, where the main text selected was the recommendations from the Movement Disorder Society Task Force for PDD diagnosis. The Pub Med, OVID, and Proquest data bases were used for the search.

  16. Gender differences in Parkinson's disease: clinical characteristics and cognition.

    Science.gov (United States)

    Miller, Ivy N; Cronin-Golomb, Alice

    2010-12-15

    More men than women are diagnosed with Parkinson's disease (PD), and a number of gender differences have been documented in this disorder. Examples of clinical characteristics that appear in men more often than women include rigidity and rapid eye movement behavior disorder, whereas more women than men exhibit dyskinesias and depression. Differences between men and women in cognition have not been extensively examined, though there are reports of deficits in men in aspects of cognition that contribute to activities of daily living, in verbal fluency, and in the recognition of facial emotion, and deficits in women in visuospatial cognition. Side of disease onset may interact with gender to affect cognitive abilities. One possible source of male-female differences in the clinical and cognitive characteristics of PD is the effect of estrogen on dopaminergic neurons and pathways in the brain. This effect is not yet understood, as insight into how the fluctuation of estrogen over the lifetime affects the brain is currently limited. Further attention to this area of research will be important for accurate assessment and better management of PD. Attention should also be directed to multiple covariates that may affect clinical characteristics and cognition. Knowledge about differences in the presentation of PD symptoms in men and women and about the pathophysiology underlying those differences may enhance the accuracy and effectiveness of clinical assessment and treatment of the disease.

  17. Clinical utility of ivabradine in cardiovascular disease management: current status

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    Rosano GMC

    2014-08-01

    Full Text Available Giuseppe MC Rosano,1,2 Cristiana Vitale,1,2 Ilaria Spoletini,1 Maurizio Volterrani11Department of Medical Sciences, IRCCS San Raffaele Pisana, Rome, Italy; 2Cardiovascular and Cell Sciences Research Institute, St George's University of London, London, UK Abstract: Ivabradine is a selective antagonist of the funny channels with anti-anginal and anti-ischemic properties, approved for the treatment of coronary artery disease (CAD and heart failure (HF. It provides pure heart rate reduction, reducing the diastolic depolarization slope, without altering hemodynamic parameters. This review summarizes the current knowledge on the efficacy of ivabradine in patients with cardiovascular diseases, with a particular focus on its role in the clinical management of patients with CAD and HF. There is consistent evidence that ivabradine is effective in reducing angina pectoris symptoms and myocardial ischemia. At approved doses ivabradine is safe, improves exercise tolerance, and reduces heart rate. Available data from clinical trials support its use in the management of patients with stable CAD and chronic HF. Recent studies have cast doubt on the safety of non-approved high doses of ivabradine for the treatment of patients with CAD and without clinical HF, but have shown no concerns on the doses approved for clinical use. Keywords: ivabradine, coronary artery disease, heart failure, angina pectoris, exercise performance

  18. Pilonidal sinus disease - Etiological factors, pathogenesis and clinical features

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    Kazim Duman

    2016-12-01

    Full Text Available and lsquo;Pilonidal sinus' disease, which is most commonly seen in reproductive populations, such as young adults - mostly in males who are in their twenties - is actually a controversial disease in that there is no consensus on its many facets. It is sometimes seen as an infected abscess draining from an opening or a lesion extending to the perineum. It may also present as a draining fistula opening to skin. In terms of etiological factors, various theories (main theories being congenital and acquired have been established since it was first described, no universal understanding achieved. A long and significant post-operative care period with different lengths of recovery depending on the type of operation are quite prevalent with regards to recurrence and complication status. In order to prevent recurrence and improve the quality of life, etiological and predisposing factors as well as clinical features of sacrococcygeal pilonidal disease should be well known, a detailed differential diagnosis should be made, and a suitable and timely intervention should be performed. It was aimed here to explain the etiological factors, pathogenesis and clinical features of the disease that may present with various clinical symptoms. [Arch Clin Exp Surg 2016; 5(4.000: 228-232

  19. Parthenium dermatitis severity score to assess clinical severity of disease

    Directory of Open Access Journals (Sweden)

    Kaushal K Verma

    2017-01-01

    Full Text Available Background: Parthenium dermatitis is the most common type of airborne contact dermatitis in India. It is a chronic disease of a remitting and relapsing course with significant morbidity and distress, but there is no scoring system to assess its severity. Aim: To design a scoring system for the assessment of clinical severity of disease in Parthenium dermatitis and to use this scoring system in various studies to determine its sensitivity, specificity, and reproducibility. Methods and Results: In our first few studies on Parthenium dermatitis, we designed and used a basic clinical severity scoring system based on itching, morphology of the lesions, and areas involved. However, in subsequent studies, we modified it to the present scoring system as Parthenium dermatitis severity score (PDSS. Our studies showed the high sensitivity of PDSS in characterization of the disease severity at the given point of time, as well as to determine the efficacy of a prescribed treatment modality which was reliable and reproducible. Conclusion: Thus, PDSS may be used by clinicians for appropriate scoring of the clinical severity of Parthenium dermatitis and in monitoring the disease response to therapy.

  20. 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

  1. Retrospective study of disease incidence and other clinical conditions diagnosed in owned dogs in Delta State, Nigeria

    Directory of Open Access Journals (Sweden)

    Kundu F. Shima

    2015-12-01

    Full Text Available In Nigeria, knowledge on the epidemiology of diseases of dogs is limited. A retrospective study of data from clinical records of six veterinary clinics was undertaken to determine the incidence of disease in owned dogs in Delta State, Nigeria from 2012 to 2014. Association between the diagnosed diseases and the studied variables was explored using Chi-Squared test statistics. This study revealed that most of the conditions presented to the veterinary clinics were preventable. Thirty-one (31 clinical conditions were diagnosed from 571 cases recorded, involving nonspecific (21.6%, infectious (70.9%; P=0.001 and non-infectious (7.5% diseases. The most occurring clinical conditions comprised helminthoses (21.4%, mange (10.5%, parvovirosis (8.4%, babesiosis (7.9%, septicemia (7.2%, gastroenteritis (7.0%, myiasis (7.0%, trauma (6.3%, poisoning (6.0%, ectoparasitism (3.7%, ascites (2.5%, dermatitis (2.3%, aural hematoma (1.2%, and orchitis (1.1%. Disease incidence was highest in Alsatian (40.3%, mixed/cross (33.1%, Rottweiler (7.0% and toy breeds (4.6%. Details on the least occurring diseases and the association between disease and the studied variables are given. The outcomes demonstrate the prevalence of the clinical conditions diagnosed, inadequate husbandry and veterinary care accorded to owned dogs in the State. Education of dog owners on preventive measures is paramount in alleviating some of these health problems.

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

    Science.gov (United States)

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

    2009-01-01

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

  3. Kikuchi-Fujimoto disease: Clinical and laboratory characteristics and outcome

    Directory of Open Access Journals (Sweden)

    P S Rakesh

    2014-01-01

    Full Text Available Introduction: Kikuchi-Fujimoto disease is an uncommon disorder with worldwide distribution, characterized by fever and benign enlargement of the lymph nodes, primarily affecting young adults. Awareness about this disorder may help prevent misdiagnosis and inappropriate investigations and treatment. The objective of the study was to evaluate the clinical and laboratory characteristics of histopathologically confirmed cases of Kikuchi′s disease from a tertiary care center in southern India. Materials and Methods: Retrospective analysis of all adult patients with histopathologically confirmed Kikuchi′s disease from January 2007 to December 2011 in a 2700-bed teaching hospital in South India was done. The clinical and laboratory characteristics and outcome were analyzed. Results: There were 22 histopathologically confirmed cases of Kikuchi′s disease over the 5-year period of this study. The mean age of the subjects′ was 29.7 years (SD 8.11 and majority were women (Male: female- 1:3.4. Apart from enlarged cervical lymph nodes, prolonged fever was the most common presenting complaint (77.3%. The major laboratory features included anemia (54.5%, increased erythrocyte sedimentation rate (31.8%, elevated alanine aminotransferase (27.2% and elevated lactate dehydrogenase (LDH (31.8%. Conclusion: Even though rare, Kikuchi′s disease should be considered in the differential diagnosis of young individuals, especially women, presenting with lymphadenopathy and prolonged fever. Establishing the diagnosis histopathologically is essential to avoid inappropriate investigations and therapy.

  4. Imaging of cystic fibrosis lung disease and clinical interpretation

    Energy Technology Data Exchange (ETDEWEB)

    Wielpuetz, M.O.; Eichinger, M.; Kauczor, H.U. [Heidelberg University Hospital (Germany). Dept. of Diagnostic and Interventional Radiology; Translational Lung Research Center Heidelberg (TLRC) (Germany); Heidelberg University Hospital (Germany). Dept. of Diagnostic and Interventional Radiology with Nuclear Medicine; Biederer, J. [Heidelberg University Hospital (Germany). Dept. of Diagnostic and Interventional Radiology; Translational Lung Research Center Heidelberg (TLRC) (Germany); Gross-Gerau Community Hospital (Germany). Radiologie Darmstadt; Wege, S. [Heidelberg University Hospital (Germany). Dept. of Pulmonology and Respiratory Medicine; Stahl, M.; Sommerburg, O. [Translational Lung Research Center Heidelberg (TLRC) (Germany); Heidelberg University Hospital (Germany). Div. of Pediatric Pulmonology and Allergy and Cystic Fibrosis Center; Mall, M.A. [Translational Lung Research Center Heidelberg (TLRC) (Germany); Heidelberg University Hospital (Germany). Div. of Pediatric Pulmonology and Allergy and Cystic Fibrosis Center; Heidelberg University Hospital (Germany). Dept. of Translational Pulmonology; Puderbach, M. [Heidelberg University Hospital (Germany). Dept. of Diagnostic and Interventional Radiology; Translational Lung Research Center Heidelberg (TLRC) (Germany); Heidelberg University Hospital (Germany). Dept. of Diagnostic and Interventional Radiology with Nuclear Medicine; Hufeland Hospital, Bad Langensalza (Germany). Dept. of Diagnostic and Interventional Radiology

    2016-09-15

    Progressive lung disease in cystic fibrosis (CF) is the life-limiting factor of this autosomal recessive genetic disorder. Increasing implementation of CF newborn screening allows for a diagnosis even in pre-symptomatic stages. Improvements in therapy have led to a significant improvement in survival, the majority now being of adult age. Imaging provides detailed information on the regional distribution of CF lung disease, hence longitudinal imaging is recommended for disease monitoring in the clinical routine. Chest X-ray (CXR), computed tomography (CT) and magnetic resonance imaging (MRI) are now available as routine modalities, each with individual strengths and drawbacks, which need to be considered when choosing the optimal modality adapted to the clinical situation of the patient. CT stands out with the highest morphological detail and has often been a substitute for CXR for regular severity monitoring at specialized centers. Multidetector CT data can be post-processed with dedicated software for a detailed measurement of airway dimensions and bronchiectasis and potentially a more objective and precise grading of disease severity. However, changing to CT was inseparably accompanied by an increase in radiation exposure of CF patients, a young population with high sensitivity to ionizing radiation and lifetime accumulation of dose. MRI as a cross-sectional imaging modality free of ionizing radiation can depict morphological hallmarks of CF lung disease at lower spatial resolution but excels with comprehensive functional lung imaging, with time-resolved perfusion imaging currently being most valuable.

  5. α-Synuclein oligomers and clinical implications for Parkinson disease.

    Science.gov (United States)

    Kalia, Lorraine V; Kalia, Suneil K; McLean, Pamela J; Lozano, Andres M; Lang, Anthony E

    2013-02-01

    Protein aggregation within the central nervous system has been recognized as a defining feature of neurodegenerative diseases since the early 20th century. Since that time, there has been a growing list of neurodegenerative disorders, including Parkinson disease, which are characterized by inclusions of specific pathogenic proteins. This has led to the long-held dogma that these characteristic protein inclusions, which are composed of large insoluble fibrillar protein aggregates and visible by light microscopy, are responsible for cell death in these diseases. However, the correlation between protein inclusion formation and cytotoxicity is inconsistent, suggesting that another form of the pathogenic proteins may be contributing to neurodegeneration. There is emerging evidence implicating soluble oligomers, smaller protein aggregates not detectable by conventional microscopy, as potential culprits in the pathogenesis of neurodegenerative diseases. The protein α-synuclein is well recognized to contribute to the pathogenesis of Parkinson disease and is the major component of Lewy bodies and Lewy neurites. However, α-synuclein also forms oligomeric species, with certain conformations being toxic to cells. The mechanisms by which these α-synuclein oligomers cause cell death are being actively investigated, as they may provide new strategies for diagnosis and treatment of Parkinson disease and related disorders. Here we review the possible role of α-synuclein oligomers in cell death in Parkinson disease and discuss the potential clinical implications.

  6. Ledderhose Disease: Clinical, Radiological (Ultrasound and MRI, and Anatomopathological Findings

    Directory of Open Access Journals (Sweden)

    Y. Omor

    2015-01-01

    Full Text Available Plantar fibromatosis, or Ledderhose disease, is a rare hyperproliferative disorder of the plantar aponeurosis. It may occur at any age, with the greatest prevalence at middle age and beyond. This disorder is more common in men than woman and it is sometimes associated with other forms of fibromatosis. Diagnosis is based on clinical examination. Ultrasound (US and magnetic resonance imaging (MRI can be useful to confirm the diagnosis. A 44-year-old man with Ledderhose disease who underwent ultrasound and MR is described in this paper.

  7. Ledderhose Disease: Clinical, Radiological (Ultrasound and MRI), and Anatomopathological Findings.

    Science.gov (United States)

    Omor, Y; Dhaene, B; Grijseels, S; Alard, S

    2015-01-01

    Plantar fibromatosis, or Ledderhose disease, is a rare hyperproliferative disorder of the plantar aponeurosis. It may occur at any age, with the greatest prevalence at middle age and beyond. This disorder is more common in men than woman and it is sometimes associated with other forms of fibromatosis. Diagnosis is based on clinical examination. Ultrasound (US) and magnetic resonance imaging (MRI) can be useful to confirm the diagnosis. A 44-year-old man with Ledderhose disease who underwent ultrasound and MR is described in this paper.

  8. An exploratory study using a statistical approach as a platform for clinical reasoning in canine epilepsy.

    Science.gov (United States)

    Armaşu, M; Packer, R M A; Cook, S; Solcan, G; Volk, H A

    2014-11-01

    Links between deficits identified on neurological examination, age of seizure onset and the presence of structural forebrain disease have often been postulated in dogs presenting with a history of seizures. The purpose of this study was to assess the influence of such factors on the likelihood of structural or functional brain disease, via a thorough history taking process and interictal neurological examination. Four hundred and four dogs with seizures due to intracranial causes were included. Data including age, sex, neuter status, time until diagnosis, age of seizure onset in years, type of seizure, seizure symmetry, seizure severity, interictal neurological deficits, MRI changes and side effects associated with antiepileptic drugs were extracted from medical files. Two hundred and fifty-eight dogs were diagnosed with epilepsy of unknown origin (EUO), 11 with symmetrical structural lesions and 135 with asymmetrical structural lesions. Multinomial analysis demonstrated that dogs that were older at seizure onset were significantly more likely to have an asymmetrical structural lesion than EUO (OR 95% CI: 1.4-1.8). Dogs that had single seizures rather than cluster seizures were less likely to have asymmetrical structural lesions than dogs with EUO (OR 95% CI: 0.2-0.7). Dogs with abnormal neurological examinations were 16.5 times more likely to have asymmetrical structural lesions (OR 95% CI: 8.5-32.1) and 12.5 times more likely to have symmetrical structural lesions (OR 95% CI: 3.0-52.3) than EUO. These findings support the importance of considering interictal neurological deficits and seizure history in clinical reasoning.

  9. Mathematical and statistical modeling for emerging and re-emerging infectious diseases

    CERN Document Server

    Hyman, James

    2016-01-01

    The contributions by epidemic modeling experts describe how mathematical models and statistical forecasting are created to capture the most important aspects of an emerging epidemic.Readers will discover a broad range of approaches to address questions, such as Can we control Ebola via ring vaccination strategies? How quickly should we detect Ebola cases to ensure epidemic control? What is the likelihood that an Ebola epidemic in West Africa leads to secondary outbreaks in other parts of the world? When does it matter to incorporate the role of disease-induced mortality on epidemic models? What is the role of behavior changes on Ebola dynamics? How can we better understand the control of cholera or Ebola using optimal control theory? How should a population be structured in order to mimic the transmission dynamics of diseases such as chlamydia, Ebola, or cholera? How can we objectively determine the end of an epidemic? How can we use metapopulation models to understand the role of movement restrictions and mi...

  10. Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease.

    Science.gov (United States)

    Böttcher, Tobias; Rolfs, Arndt; Meyer, Bianca; Grossmann, Annette; Berg, Daniela; Kropp, Peter; Benecke, Reiner; Walter, Uwe

    2013-10-01

    Homozygous or compound heterozygous mutations in the glucocerebrosidase gene cause Gaucher disease. Moreover, heterozygous glucocerebrosidase gene mutations represent the most common genetic risk factor for Parkinson's disease (PD) known so far. Substantia nigra (SN) hyperechogenicity, a sonographic feature thought to reflect iron accumulation, has been described in both PD and Gaucher disease patients. Here we studied how clinical, genetic, and brain sonographic findings relate to the occurrence of PD in Gaucher disease. Sixteen Gaucher disease patients, 12 PD patients, and 32 control subjects were enrolled. The glucocerebrosidase genotypes were identified by DNA sequencing. All subjects underwent transcranial ultrasound, and eight Gaucher disease patients additionally MRI for comparison with SN ultrasound findings. SN hyperechogenicity and reduced echogenicity of brainstem raphe were more frequent in Gaucher disease patients (62, 37 %) than in controls (12, 12 %; p Gaucher disease patients was unrelated to type or severity of glucocerebrosidase gene mutation, but correlated with iron-sensitive MRI-T2 hypointensity of SN pars compacta, and with age at start of enzyme replacement therapy. While none of the five Gaucher disease patients with signs of PD (definite PD, n = 4; early PD, n = 1) had severe glucocerebrosidase gene mutations known to cause neuronopathic Gaucher disease, all carried a N370S allele, previously reported to predict non-neuronopathic Gaucher disease. Hyposmia, higher non-motor symptoms score (constipation, depression, executive dysfunction), and SN hyperechogenicity were characteristic features of Gaucher disease-related PD. We conclude that the combined clinical, genetic, and transcranial sonographic assessment may improve the PD risk evaluation in Gaucher disease.

  11. Clinical features and management of Crohn's disease in Chinese patients

    Institute of Scientific and Technical Information of China (English)

    郑家驹; 史晓华; 褚行琦; 贾黎明; 王风鸣

    2004-01-01

    Background An increasing incidence of Crohn' s disease has been found in China in recent years.Our study has been focused on evaluating the diversity of the clinical manifestations of Crohn' s disease in order to improve early diagnostic accuracy and therapeutic efficacy.Methods Thirty patients with active Crohn's disease were enrolled and their clinical data, including diagnostic and therapeutic results, were analyzed. Endoscopy combined with histological examination of biopsy specimens provided characteristic features of the disease. Transabdominal bowel sonography (TABS) was used for detecting intestinal complications. Nutritional supportive therapy was given to 20 subjects with active cases of the disease.Results Most patients were young adults with a higher proportion of females to males (ratio: 1.14:1). The disease affects any segment or a combination of segments along with the alimentary tract(from the mouth to the anus). In this study, the colon and small bowel were the major sites involved.Recurrent episodes of abdominal pain in the right lower quadrant and watery diarrhea were the most common symptoms. Granulomas were identifiable in nearly one-third (30.8%) of all biopsy specimens. In moderate cases of the disease, remission was achieved more quickly through the use of oral prednisone therapy than with SASP or 5-ASA. Beneficial effects on the host' s nutritional status were observed. Immunosuppressives were used on an individual basis and showed variable therapeutic effects. Sixteen patients had surgery due to intestinal obstruction or failure to respond to drug therapies. Rapid improvement after surgery was reported. Conclusion Endoscopy (with biopsy) and TABS were both crucial procedures for diagnosis. SASP(or 5-ASA) and prednisone were effective as inductive therapies. Azathioprine has demonstrable benefits after induction therapy with prednisone. Surgery, as an alternative treatment, provided another effective choice in selected patients.

  12. Additive scales in degenerative disease - calculation of effect sizes and clinical judgment

    Directory of Open Access Journals (Sweden)

    Riepe Matthias W

    2011-12-01

    Full Text Available Abstract Background The therapeutic efficacy of an intervention is often assessed in clinical trials by scales measuring multiple diverse activities that are added to produce a cumulative global score. Medical communities and health care systems subsequently use these data to calculate pooled effect sizes to compare treatments. This is done because major doubt has been cast over the clinical relevance of statistically significant findings relying on p values with the potential to report chance findings. Hence in an aim to overcome this pooling the results of clinical studies into a meta-analyses with a statistical calculus has been assumed to be a more definitive way of deciding of efficacy. Methods We simulate the therapeutic effects as measured with additive scales in patient cohorts with different disease severity and assess the limitations of an effect size calculation of additive scales which are proven mathematically. Results We demonstrate that the major problem, which cannot be overcome by current numerical methods, is the complex nature and neurobiological foundation of clinical psychiatric endpoints in particular and additive scales in general. This is particularly relevant for endpoints used in dementia research. 'Cognition' is composed of functions such as memory, attention, orientation and many more. These individual functions decline in varied and non-linear ways. Here we demonstrate that with progressive diseases cumulative values from multidimensional scales are subject to distortion by the limitations of the additive scale. The non-linearity of the decline of function impedes the calculation of effect sizes based on cumulative values from these multidimensional scales. Conclusions Statistical analysis needs to be guided by boundaries of the biological condition. Alternatively, we suggest a different approach avoiding the error imposed by over-analysis of cumulative global scores from additive scales.

  13. Clinical diagnosis analysis in 21 cases of spinal cord disease

    Institute of Scientific and Technical Information of China (English)

    ZHANG Hong

    2000-01-01

    21 cases of spinal cord disease were clinically analyzed of which 14 cases were male. 7 female, aged from 30 to 69, weraged 50.9. This group contained 2 cases of consciusness dysfunction. 2l of sensational dysfunction. 19 of morion dysrunction, 11 of aotonomic nerve dysrunction, 2 of, sexual dysfunction. 2 of Brown-Sequrd syndrome. llhad been chrmcally sympromatic for more than two months. the other were of acute for sub acute onset. The segments of the diseases were found mainly at cervical and thoracic ones. to which more attention should be pazd clincally. The incidences of intramedullary lesions were a bit more than that of extramedullary ones. Of the 11 extramendullary cases, 8 arised srorn verteoral body (72.7%), of which 6 cases arisen form the intervertebral dies, or 75%. On which emphasis should be laid clinically Foci in brain and spinal cord were found synchronically in 5 cases (23.8%). They were Wernick cerebral disease, metastetic cerebral tumor, cerebral infarction, polioencephalomyelitis. So possibility of brain disease should also be considerod when diagnosing spinai cord disease, especially in stenosis of cervical canal. Oppressed spinal cord was accodiated with cerebellopontine angle tumor. Disease in brain was negiected because of concermng spinal cord disease and cerehellopontine angie giant meningiona was discovered 5 yeas laaer. There are several methods to diagnose spinal cord disease, including X-rays photography, CSF test, CT, and MRI, etc. X-rays photography should be used for involved vertebral body in lateral and P-A position at first when to suspect spinal cord disease. It should be avoided that neglecting X-rays photography and using CT or MRIfirst. It should be noted when taking segments examination by CT or MRI, thut the actual vertebral body is usually located 7'- 14 segments below the spinal cord involved. Otherwise, misdiagnosis would be resulted. 4 c ases of oppressive spinal cord disease of this group were treated with operating

  14. Clinical trials in Huntington's disease: Interventions in early clinical development and newer methodological approaches.

    Science.gov (United States)

    Sampaio, Cristina; Borowsky, Beth; Reilmann, Ralf

    2014-09-15

    Since the identification of the Huntington's disease (HD) gene, knowledge has accumulated about mechanisms directly or indirectly affected by the mutated Huntingtin protein. Transgenic and knock-in animal models of HD facilitate the preclinical evaluation of these targets. Several treatment approaches with varying, but growing, preclinical evidence have been translated into clinical trials. We review major landmarks in clinical development and report on the main clinical trials that are ongoing or have been recently completed. We also review clinical trial settings and designs that influence drug-development decisions, particularly given that HD is an orphan disease. In addition, we provide a critical analysis of the evolution of the methodology of HD clinical trials to identify trends toward new processes and endpoints. Biomarker studies, such as TRACK-HD and PREDICT-HD, have generated evidence for the potential usefulness of novel outcome measures for HD clinical trials, such as volumetric imaging, quantitative motor (Q-Motor) measures, and novel cognitive endpoints. All of these endpoints are currently applied in ongoing clinical trials, which will provide insight into their reliability, sensitivity, and validity, and their use may expedite proof-of-concept studies. We also outline the specific opportunities that could provide a framework for a successful avenue toward identifying and efficiently testing and translating novel mechanisms of action in the HD field.

  15. Host and viral genetic correlates of clinical definitions of HIV-1 disease progression.

    Directory of Open Access Journals (Sweden)

    Concepción Casado

    Full Text Available BACKGROUND: Various patterns of HIV-1 disease progression are described in clinical practice and in research. There is a need to assess the specificity of commonly used definitions of long term non-progressor (LTNP elite controllers (LTNP-EC, viremic controllers (LTNP-VC, and viremic non controllers (LTNP-NC, as well as of chronic progressors (P and rapid progressors (RP. METHODOLOGY AND PRINCIPAL FINDINGS: We re-evaluated the HIV-1 clinical definitions, summarized in Table 1, using the information provided by a selected number of host genetic markers and viral factors. There is a continuous decrease of protective factors and an accumulation of risk factors from LTNP-EC to RP. Statistical differences in frequency of protective HLA-B alleles (p-0.01, HLA-C rs9264942 (p-0.06, and protective CCR5/CCR2 haplotypes (p-0.02 across groups, and the presence of viruses with an ancestral genotype in the "viral dating" (i.e., nucleotide sequences with low viral divergence from the most recent common ancestor support the differences among principal clinical groups of HIV-1 infected individuals. CONCLUSIONS: A combination of host genetic and viral factors supports current clinical definitions that discriminate among patterns of HIV-1 progression. The study also emphasizes the need to apply a standardized and accepted set of clinical definitions for the purpose of disease stratification and research.

  16. Impulsive Behavior and Associated Clinical Variables in Parkinson's Disease

    OpenAIRE

    Abosch, Aviva; Gupte, Akshay; Eberly, Lynn E.; Tuite, Paul J.; Nance, Martha; Grant, Jon E.

    2011-01-01

    Parkinson's disease (PD) is a degenerative brain disorder accompanied by the loss of dopaminergic neurons and the presence of motor and non-motor symptoms. We performed a cross-sectional, questionnaire-based analysis of impulsive behavior in our PD clinic population to assess prevalence and associated characteristics. We found a higher prevalence of impulsive behavior (29.7%) than previously reported, and found multiple, concurrent impulsive behaviors in 26% of subjects reporting impulsive be...

  17. GENDER DIFFERENCES IN PARKINSON'S DISEASE: CLINICAL CHARACTERISTICS AND COGNITION

    OpenAIRE

    Miller, Ivy N.; Cronin-Golomb, Alice

    2010-01-01

    More men than women are diagnosed with Parkinson's disease (PD), and a number of gender differences have been documented in this disorder. Examples of clinical characteristics that appear in men more often than women include rigidity and rapid eye movement behavior disorder, whereas more women than men exhibit dyskinesias and depression. Differences between men and women in cognition have not been extensively examined, though there are reports of deficits in men in aspects of cognition that c...

  18. Demographics, clinical features and treatment of pediatric celiac disease

    OpenAIRE

    Tapsas, Dimitrios

    2015-01-01

    Celiac disease (CD) is a chronic small intestinal immune-mediated enteropathy triggered by ingestion of gluten-containing food in genetically predisposed subjects. The enteropathy is presented with a wide variety of clinical manifestations, which can occur even outside the gastrointestinal tract. In the majority of cases, the diagnosis of CD is based on a small intestinal biopsy showing mucosal alterations, i.e. intraepithelial lymphocytosis, crypt hyperplasia, and villous atrophy. The treatm...

  19. Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease

    Directory of Open Access Journals (Sweden)

    Moldovan Laura

    2010-10-01

    Full Text Available Abstract Background Computer-based teaching (CBT is a well-known educational device, but it has never been applied systematically to the teaching of a complex, rare, genetic disease, such as Hunter disease (MPS II. Aim To develop interactive teaching software functioning as a virtual clinic for the management of MPS II. Implementation and Results The Hunter disease eClinic, a self-training, user-friendly educational software program, available at the Lysosomal Storage Research Group (http://www.lysosomalstorageresearch.ca, was developed using the Adobe Flash multimedia platform. It was designed to function both to provide a realistic, interactive virtual clinic and instantaneous access to supporting literature on Hunter disease. The Hunter disease eClinic consists of an eBook and an eClinic. The eClinic is the interactive virtual clinic component of the software. Within an environment resembling a real clinic, the trainee is instructed to perform a medical history, to examine the patient, and to order appropriate investigation. The program provides clinical data derived from the management of actual patients with Hunter disease. The eBook provides instantaneous, electronic access to a vast collection of reference information to provide detailed background clinical and basic science, including relevant biochemistry, physiology, and genetics. In the eClinic, the trainee is presented with quizzes designed to provide immediate feedback on both trainee effectiveness and efficiency. User feedback on the merits of the program was collected at several seminars and formal clinical rounds at several medical centres, primarily in Canada. In addition, online usage statistics were documented for a 2-year period. Feedback was consistently positive and confirmed the practical benefit of the program. The online English-language version is accessed daily by users from all over the world; a Japanese translation of the program is also available. Conclusions The

  20. QUALITY OF LIFE IN PATIENTS WITH INFLAMMATORY BOWEL DISEASE: importance of clinical, demographic and psychosocial factors

    Directory of Open Access Journals (Sweden)

    Joana MAGALHÃES

    2014-09-01

    Full Text Available Context Inflammatory bowel disease causes physical and psychosocial consequences that can affect the health related quality of life. Objectives To analyze the relationship between clinical and sociodemographic factors and quality of life in inflammatory bowel disease patients. Methods Ninety two patients with Crohn’s disease and 58 with ulcerative colitis, filled in the inflammatory bowel disease questionnaire (IBDQ-32 and a questionnaire to collect sociodemographic and clinical data. The association between categorical variables and IBDQ-32 scores was determined using Student t test. Factors statistically significant in the univariate analysis were included in a multivariate regression model. Results IBDQ-32 scores were significantly lower in female patients (P<0.001, patients with an individual perception of a lower co-workers support (P<0.001 and career fulfillment (P<0.001, patients requiring psychological support (P = 0.010 and pharmacological treatment for anxiety or depression (P = 0.002. A multivariate regression analysis identified as predictors of impaired HRQOL the female gender (P<0.001 and the perception of a lower co-workers support (P = 0.025 and career fulfillment (P = 0.001. Conclusions The decrease in HRQQL was significantly related with female gender and personal perception of disease impact in success and social relations. These factors deserve a special attention, so timely measures can be implemented to improve the quality of life of patients.

  1. Spectrum of Clinical Presentations in Human Immunodeficiency Virus (HIV) Infected Patients with Renal Disease.

    Science.gov (United States)

    Okafor, U H; Unuigbe, E I; Wokoma, F S

    2011-01-01

    HIV infection is a multiorgan disease with the kidney not spared. A variety of renal syndromes with varying clinical presentations has been reported amongst HIV infected patients. This study aims to highlight the spectrum of clinical presentations in HIV infected patients with renal disease. HIV infected patients presenting at University of Benin Teaching Hospital (UBTH) Benin City were the study population. A total of 383 patients were studied. Their biodata, clinical presentations and laboratory investigations including serum urea, creatinine and albumin, urine protein and creatinine were assessed. Their glomerular filtration rate (GFR) and protein urine excretion were calculated using six equations of modification of diet in renal disease (MDRD) and protein: creatinine ratio respectively. Patients were stratified according to their renal functions into normal, mild, moderate and severe renal function impairment. The data was analysed using statistical software program SPSS Vs 15.0. 53.3% of 383 patients screened had renal function impairment, 40.2% mild, 37.7% moderate and 22.2% severe impairment. Mean age was 35.6±8.3, 36.0±9.9 and 36.3±8.3 years for mild, moderate and severe renal function impairment (RFI) respectively. Easy fatigability was the commonest symptoms occurring in 47.5%, 30.0%, 37.5% and 22.5% of control, mild RFI, moderate RFI and severe RFI subjects respectively (p = 0.568). Oliguria, facial and body swelling occurred more in patients with RFI especially in patients with severe renal impairment. The difference is statistically significant (p = 0.046, 0.041, and 0.033 respectively). Pallor was the commonest clinical sign occurring in 32.5%, 50.0%, 35.0% and 62.5% of control and patients with mild, moderate, and severe RFI respectively; the difference was not statistically significant (p = 0.459). Ascites, facial puffiness and pedal oedema were commoner in patients with RFI especially those with severe RFI. The differences were statistically

  2. Clinical and biochemical landmarks in systemic autoinflammatory diseases.

    Science.gov (United States)

    Cantarini, Luca; Rigante, Donato; Brizi, Maria Giuseppina; Lucherini, Orso Maria; Sebastiani, Gian Domenico; Vitale, Antonio; Gianneramo, Valentina; Galeazzi, Mauro

    2012-11-01

    Systemic autoinflammatory diseases are a group of inherited disorders of the innate immune system characterized by seemingly unprovoked inflammation recurring at variable intervals and involving skin, serosal membranes, joints, and gastrointestinal apparatus, with reactive amyloidosis as a possible severe long-term complication. Recent advances in genetics and molecular biology have improved our understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, and hereditary pyogenic and granulomatous disorders: the vast majority of these conditions are related to the activation of the interleukin-1 pathway, which results in (or from?) a common unifying pathogenetic mechanism. Their diagnostic identification derives from the combination of clinical data, evaluation of acute phase reactants, clinical efficacy in response to specific drugs, and recognition of specific mutations in the relevant genes, although genetic tests may be unconstructive in some cases. This review will discuss clinical and laboratory clues useful for a diagnostic approach to systemic autoinflammatory diseases.

  3. Disease-specific survival for limited-stage small-cell lung cancer affected by statistical method of assessment

    Directory of Open Access Journals (Sweden)

    Yuan Fei

    2007-02-01

    Full Text Available Abstract Background In general, prognosis and impact of prognostic/predictive factors are assessed with Kaplan-Meier plots and/or the Cox proportional hazard model. There might be substantive differences from the results using these models for the same patients, if different statistical methods were used, for example, Boag log-normal (cure-rate model, or log-normal survival analysis. Methods Cohort of 244 limited-stage small-cell lung cancer patients, were accrued between 1981 and 1998, and followed to the end of 2005. The endpoint was death with or from lung cancer, for disease-specific survival (DSS. DSS at 1-, 3- and 5-years, with 95% confidence limits, are reported for all patients using the Boag, Kaplan-Meier, Cox, and log-normal survival analysis methods. Factors with significant effects on DSS were identified with step-wise forward multivariate Cox and log-normal survival analyses. Then, DSS was ascertained for patients with specific characteristics defined by these factors. Results The median follow-up of those alive was 9.5 years. The lack of events after 1966 days precluded comparison after 5 years. DSS assessed by the four methods in the full cohort differed by 0–2% at 1 year, 0–12% at 3 years, and 0–1% at 5 years. Log-normal survival analysis indicated DSS of 38% at 3 years, 10–12% higher than with other methods; univariate 95% confidence limits were non-overlapping. Surgical resection, hemoglobin level, lymph node involvement, and superior vena cava (SVC obstruction significantly impacted DSS. DSS assessed by the Cox and log-normal survival analysis methods for four clinical risk groups differed by 1–6% at 1 year, 15–26% at 3 years, and 0–12% at 5 years; multivariate 95% confidence limits were overlapping in all instances. Conclusion Surgical resection, hemoglobin level, lymph node involvement, and superior vena cava (SVC obstruction all significantly impacted DSS. Apparent DSS for patients was influenced by the

  4. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

    Science.gov (United States)

    Neumann, Juliane; Bras, Jose; Deas, Emma; O'Sullivan, Sean S; Parkkinen, Laura; Lachmann, Robin H; Li, Abi; Holton, Janice; Guerreiro, Rita; Paudel, Reema; Segarane, Badmavady; Singleton, Andrew; Lees, Andrew; Hardy, John; Houlden, Henry; Revesz, Tamas; Wood, Nicholas W

    2009-07-01

    Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an established feature of Gaucher's disease and an increased frequency of mutations in GBA has been reported in several different ethnic series with sporadic Parkinson's disease. In this study, we evaluated the frequency of GBA mutations in British patients affected by Parkinson's disease. We utilized the DNA of 790 patients and 257 controls, matched for age and ethnicity, to screen for mutations within the GBA gene. Clinical data on all identified GBA mutation carriers was reviewed and analysed. Additionally, in all cases where brain material was available, a neuropathological evaluation was performed and compared to sporadic Parkinson's disease without GBA mutations. The frequency of GBA mutations among the British patients (33/790 = 4.18%) was significantly higher (P = 0.01; odds ratio = 3.7; 95% confidence interval = 1.12-12.14) when compared to the control group (3/257 = 1.17%). Fourteen different GBA mutations were identified, including three previously undescribed mutations, K7E, D443N and G193E. Pathological examination revealed widespread and abundant alpha-synuclein pathology in all 17 GBA mutation carriers, which were graded as Braak stage of 5-6, and had McKeith's limbic or diffuse neocortical Lewy body-type pathology. Diffuse neocortical Lewy body-type pathology tended to occur more frequently in the group with GBA mutations compared to matched Parkinson's disease controls. Clinical features comprised an early onset of the disease, the presence of hallucinations in 45% (14/31) and symptoms of cognitive decline or dementia in 48% (15/31) of patients. This study demonstrates that GBA mutations are found in British subjects at a higher frequency than any other known Parkinson's disease gene. This is the largest study to date on a non-Jewish patient sample with a detailed genotype/phenotype/pathological analyses

  5. Clinical and angiographic comparison of asymptomatic occlusive cerebrovascular disease.

    Science.gov (United States)

    Gorelick, P B; Caplan, L R; Langenberg, P; Hier, D B; Pessin, M; Patel, D; Taber, J

    1988-06-01

    We compared clinical and arteriographic features in 106 patients with symptomatic unilateral carotid territory occlusive disease to determine the frequency and distribution of occlusive arterial lesions in asymptomatic vessels. Among black patients who were predominantly from Chicago, young, and female, there were fewer transient ischemic attacks and myocardial infarcts, less claudication, and more asymptomatic lesions of the supraclinoid internal carotid artery, anterior cerebral artery stem, and the middle cerebral artery stem. Among white patients predominantly from New England, elderly, and male, there was more frequent and severe occlusive asymptomatic disease at extracranial carotid and vertebral artery sites. Knowledge of the distribution of asymptomatic lesions will help guide evaluation and treatment strategies for patients with occlusive cerebrovascular disease.

  6. Mitochondrial disease: clinical aspects, molecular mechanisms, translational science, and clinical frontiers.

    Science.gov (United States)

    Thornton, Ben; Cohen, Bruce; Copeland, William; Maria, Bernard L

    2014-09-01

    Mitochondrial medicine provides a metabolic perspective on the pathology of conditions linked with inadequate oxidative phosphorylation. Dysfunction in the mitochondrial machinery can result in improper energy production, leading to cellular injury or even apoptosis. Clinical presentations are often subtle, so clinicians must have a high index of suspicion to make early diagnoses. Symptoms could include muscle weakness and pain, seizures, loss of motor control, decreased visual and auditory functions, metabolic acidosis, acute developmental regression, and immune system dysfunction. The 2013 Neurobiology of Disease in Children Symposium, held in conjunction with the 42nd Annual Meeting of the Child Neurology Society, aimed to (1) describe accepted clinical phenotypes of mitochondrial disease produced from various mitochondrial mutations, (2) discuss contemporary understanding of molecular mechanisms that contribute to disease pathology, (3) highlight the systemic effects produced by dysfunction within the mitochondrial machinery, and (4) introduce current strategies that are being translated from bench to bedside as potential therapeutics.

  7. Amatoxin poisoning treatment decision-making: pharmaco-therapeutic clinical strategy assessment using multidimensional multivariate statistic analysis.

    Science.gov (United States)

    Poucheret, Patrick; Fons, Françoise; Doré, Jean Christophe; Michelot, Didier; Rapior, Sylvie

    2010-06-15

    Ninety percent of fatal higher fungus poisoning is due to amatoxin-containing mushroom species. In addition to absence of antidote, no chemotherapeutic consensus was reported. The aim of the present study is to perform a retrospective multidimensional multivariate statistic analysis of 2110 amatoxin poisoning clinical cases, in order to optimize therapeutic decision-making. Our results allowed to classify drugs as a function of their influence on one major parameter: patient survival. Active principles were classified as first intention, second intention, adjuvant or controversial pharmaco-therapeutic clinical intervention. We conclude that (1) retrospective multidimensional multivariate statistic analysis of complex clinical dataset might help future therapeutic decision-making and (2) drugs such as silybin, N-acetylcystein and putatively ceftazidime are clearly associated, in amatoxin poisoning context, with higher level of patient survival.

  8. Sex Differences in Clinical Features of Early, Treated Parkinson’s Disease

    Science.gov (United States)

    Augustine, Erika F.; Pérez, Adriana; Dhall, Rohit; Umeh, Chizoba C.; Videnovic, Aleksandar; Cambi, Franca; Wills, Anne-Marie A.; Elm, Jordan J.; Zweig, Richard M.; Shulman, Lisa M.; Nance, Martha A.; Bainbridge, Jacquelyn; Suchowersky, Oksana

    2015-01-01

    Introduction 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. Methods 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). Results 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). Conclusions 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. PMID:26171861

  9. Dissociating emotional and cognitive empathy in pre-clinical and clinical Huntington's disease.

    Science.gov (United States)

    Maurage, Pierre; Lahaye, Magali; Grynberg, Delphine; Jeanjean, Anne; Guettat, Lamia; Verellen-Dumoulin, Christine; Halkin, Stéphane; Heeren, Alexandre; Billieux, Joël; Constant, Eric

    2016-03-30

    Huntington's disease (HD) is centrally characterized by motor, neurocognitive and psychiatric symptoms, but impaired emotional decoding abilities have also been reported. However, more complex affective abilities are still to be explored, and particularly empathy, which is essential for social relations and is impaired in various psychiatric conditions. This study evaluates empathic abilities and social skills in pre-clinical and clinical HD, and explores the distinction between two empathy sub-components (emotional-cognitive). Thirty-six HD patients (17 pre-clinical) and 36 matched controls filled in the Empathy Quotient Scale, while controlling for psychopathological comorbidities. At the clinical stage of HD, no global empathy impairment was observed but rather a specific deficit for the cognitive sub-component, while emotional empathy was preserved. A deficit was also observed for social skills. Pre-clinical HD was not associated with any empathy deficit. Emotional deficits in clinical HD are thus not limited to basic emotion decoding but extend towards complex interpersonal abilities. The dissociation between impaired cognitive and preserved emotional empathy in clinical HD reinforces the proposal that empathy subtypes are sustained by distinct processes. Finally, these results underline the extent of distinct affective and social impairments in HD and the need to grasp them in clinical contexts.

  10. Clinical Features and Extraintestinal Manifestations of Crohn Disease in Children

    Science.gov (United States)

    Lee, Young Ah; Chun, Peter; Hwang, Eun Ha; Mun, Sang Wook; Lee, Yeoun Joo

    2016-01-01

    Purpose The aim of this study was to investigate the clinical features and extraintestinal manifestations (EIMs) of Crohn disease (CD) in Korean pediatric patients. Methods The medical records of 73 children diagnosed with CD were retrospectively reviewed. Data regarding baseline demographic and clinical characteristics, including CD phenotype at diagnosis based on the Montreal classification, and clinical features and course of EIMs were investigated. Results Fifty-two (71.2%) of the patients were males. The mean age of the patients was 12.5 years. The mean follow-up period was 3.4 years. The disease location was ileal in 3 (4.1%) of the patients, colonic in 13 (17.8%), ileocolonic in 56 (76.7%). The clinical behavior was inflammatory in 62 (84.9%) of the patients, stricturing in 8 (11.0%), and penetrating in 3 (4.1%). Perianal abscesses or fistulas were found in 37 (50.7%) of the patients. EIMs observed during the study period were anal skin tag in 25 patients (34.2%), hypertransaminasemia in 20 (27.4%), peripheral arthritis in 2 (2.7%), erythema nodosum in 2 (2.7%), vulvitis in 1 (1.4%), uveitis in 1 (1.4%), and pulmonary thromboembolism in 1 (1.4%). Conclusion Perianal diseases and manifestations were present in more than half of Korean pediatric CD patients at diagnosis. Inspection of the anus should be mandatory in Korean children with suspicious CD, as perianal fistulas, abscesses, and anal skin tags may be the first clue to the diagnosis of CD. PMID:28090468

  11. Dupplex doppler sonography in patients with medical renal diseases: correlation with clinical and histopathologic findings

    Energy Technology Data Exchange (ETDEWEB)

    Song, Soon Young; Koh, Byung Hee; Lee, Seung Chul; Bae, Jae Ik; Kim, Yong Soo; Rhim, Hyun Chul; Cho, On Koo; Park, Chan Hyun; Park, Moon Hyang [Hanyang Univ. College of Medicine, Seoul (Korea, Republic of)

    1997-11-01

    To compare the RI (resistive index) of renal artery with serum creatinine level and histological change in 50 patients with renal parenchymal disease. To measure RI in each patient, Doppler studies were performed three times in each kidney at the level of the interlobar arteries, and the average value of RI was taken. The study was performed 1 -3 days after renal biopsy and the time interval between blood sampling for serum creatinine and duplex study was also 1 - 3 days. The RI of patients with renal disease was also correlated with patient's age, sex and serum creatinine level, and RI was also correlated with the degree of severity of glomerular, interstitial, and vascular change in the kidneys. Statistical analysis was performed using Student's t test and Pearson's correlation method. The RI of the normal control and renal disease group was 0.566{+-}0.037 and 0.584{+-}0.038, respectively with no statistical significance(p=0.444). In the group with renal disease, there was no significant correlation between RI and a patient's age, sex, and serum creatinine level(p>0.05). RI was not significantly different between predominantly glomerular disease (n=45) and nonglomerular or mixed disease(n=5)(p=0.558), and did not correlate with the severity of glomerular sclerosis, interstitial fibrosis, or atherosclerosis(p>0.05). The authors conclude that RI is not helpful for the diagnosis and differential diagnosis of renal parenchymal diseases and does not correlate with serum creatinine levels. In order to define the role of the RI, further clinical experience with more cases is required.

  12. Statistical design in phase II clinical trials and its application in breast cancer.

    Science.gov (United States)

    Perrone, Francesco; Di Maio, Massimo; De Maio, Ermelinda; Maione, Paolo; Ottaiano, Alessandro; Pensabene, Matilde; Di Lorenzo, Giuseppe; Lombardi, Alessandra Vernaglia; Signoriello, Giuseppe; Gallo, Ciro

    2003-05-01

    Several statistical designs for phase II studies have been proposed, but they are frequently misunderstood or not applied at all. In this review we describe the major characteristics of the available designs. To investigate the extent to which statistical designs were used in some recent phase II studies, and which designs were the most common, we did a survey of 145 trials involving treatment of breast cancer. Studies selected for the survey were published between 1995 and 1999 in one of seven specific oncology journals (all with impact factor consistently higher than 2). 94 of the studies (64.8%) did not have an identifiable statistical design. However, among the 51 studies with statistical design there was a notable heterogeneity in the type of design applied. We put together a list of factors associated with use of statistical design at univariate analysis. These factors included: referral to a previous phase I study, recent trial start date, private sponsorship, single-agent treatment, and multicentre organisation. Single-agent treatment (OR 2.35; 95% CI 1.01-5.51) and multicentre organisation (OR 3.24; 95% CI 1.47-7.15) were independently predictive of the presence of statistical design. Publication in journals with high impact factors and short intervals between the start of the study and publication were also correlated with statistical design.

  13. Clinical and laboratory signs associated to serious dengue disease in hospitalized children

    Directory of Open Access Journals (Sweden)

    Sheila Moura Pone

    Full Text Available Abstract Objective: To evaluate the validity of clinical and laboratory signs to serious dengue disease in hospitalized children. Methods: Retrospective cohort of children (19 and negative likelihood ratio <0.6. Pleural effusion and abdominal distension had higher sensitivity (82.6%. History of bleeding (epistaxis, gingival or gastrointestinal bleeding and severe hemorrhage (pulmonary or gastrointestinal bleeding in physical examination were more frequent in serious dengue disease (p < 0.01, but with poor accuracy (positive likelihood ratio = 1.89 and 3.89; negative likelihood ratio = 0.53 and 0.60, respectively. Serum albumin was lower in serious dengue forms (p < 0.01. Despite statistical significance (p < 0.05, both groups presented thrombocytopenia. Platelets count, hematocrit, and hemoglobin parameters had area under the curve <0.5. Conclusions: Lethargy, abdominal distension, pleural effusion, and hypoalbuminemia were the best clinical and laboratorial markers of serious dengue disease in hospitalized children, while bleeding, severe hemorrhage, hemoconcentration and thrombocytopenia did not reach adequate diagnostic accuracy. In pediatric referral hospitals, the absence of hemoconcentration does not imply absence of plasma leakage, particularly in children with previous fluid replacement. These findings may contribute to the clinical management of dengue in children at referral hospitals.

  14. Clinical symptoms and symptom signatures of Alzheimer's disease subgroups.

    Science.gov (United States)

    Iqbal, Khalid; Flory, Michael; Soininen, Hilkka

    2013-01-01

    Alzheimer's disease (AD) is a multifactorial disorder that involves several different mechanisms. Over 99% of AD patients suffer from the sporadic form of the disease. Based on cerebrospinal fluid (CSF) levels of amyloid-β (Aβ)(1-42), total tau, and ubiquitin--the markers associated with the histopathological hallmarks of the disease (Aβ plaques and abnormally hyperphosphorylated neurofibrillary tangles)--previous studies identified five subgroups of AD. Here we report the potential diagnostic predictive value of hallucination, hypokinesia, paranoia, rigidity, and tremors in aged individuals for AD and differences in the prevalence of these symptoms in the CSF marker-based subgroups of the disease. Analysis of 196 clinically diagnosed AD or Alzheimer with Lewy body, and 75 non-AD neurological and non-neurological control cases, all from a single center, showed that the presence of hallucination, hypokinesia, paranoia, rigidity, or tremors individually, or the presence of any of these, could diagnose AD with sensitivities and specificities of 14% and 99%; 30% and 99%; 15% and 99%; 16% and 100%; 16% and 96%; and 47% and 92%, respectively. The pattern of the prevalence of the above symptoms varied from AD subgroup to subgroup. Presence of any of these symptoms, as well as presence of each individual symptom except tremors, significantly differentiated AD subgroups from the predominantly control cluster. These findings encourage the exploration of hallucination, hypokinesia, paranoia, rigidity, and tremors in identifying various subgroups of AD for stratification of patients for clinical trials to develop therapeutic drugs. This study is for the special issue of the Journal of Alzheimer's Disease honoring Inge Grundke-Iqbal who made several seminal contributions in AD research.

  15. Statistical methods for the analysis of a screening test for chronic beryllium disease

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    Frome, E.L.; Neubert, R.L. [Oak Ridge National Lab., TN (United States). Mathematical Sciences Section; Smith, M.H.; Littlefield, L.G.; Colyer, S.P. [Oak Ridge Inst. for Science and Education, TN (United States). Medical Sciences Div.

    1994-10-01

    The lymphocyte proliferation test (LPT) is a noninvasive screening procedure used to identify persons who may have chronic beryllium disease. A practical problem in the analysis of LPT well counts is the occurrence of outlying data values (approximately 7% of the time). A log-linear regression model is used to describe the expected well counts for each set of test conditions. The variance of the well counts is proportional to the square of the expected counts, and two resistant regression methods are used to estimate the parameters of interest. The first approach uses least absolute values (LAV) on the log of the well counts to estimate beryllium stimulation indices (SIs) and the coefficient of variation. The second approach uses a resistant regression version of maximum quasi-likelihood estimation. A major advantage of the resistant regression methods is that it is not necessary to identify and delete outliers. These two new methods for the statistical analysis of the LPT data and the outlier rejection method that is currently being used are applied to 173 LPT assays. The authors strongly recommend the LAV method for routine analysis of the LPT.

  16. Neuroimaging in Alzheimer's disease: preclinical challenges toward clinical efficacy.

    Science.gov (United States)

    Dustin, Derek; Hall, Benjamin M; Annapragada, Ananth; Pautler, Robia G

    2016-09-01

    The scope of this review focuses on recent applications in preclinical and clinical magnetic resonance imaging (MRI) toward accomplishing the goals of early detection and responses to therapy in animal models of Alzheimer's disease (AD). Driven by the outstanding efforts of the Alzheimer's Disease Neuroimaging Initiative (ADNI), a truly invaluable resource, the initial use of MRI in AD imaging has been to assess changes in brain anatomy, specifically assessing brain shrinkage and regional changes in white matter tractography using diffusion tensor imaging. However, advances in MRI have led to multiple efforts toward imaging amyloid beta plaques first without and then with the use of MRI contrast agents. These technological advancements have met with limited success and are not yet appropriate for the clinic. Recent developments in molecular imaging inclusive of high-power liposomal-based MRI contrast agents as well as fluorine 19 ((19)F) MRI and manganese enhanced MRI have begun to propel promising advances toward not only plaque imaging but also using MRI to detect perturbations in subcellular processes occurring within the neuron. This review concludes with a discussion about the necessity for the development of novel preclinical models of AD that better recapitulate human AD for the imaging to truly be meaningful and for substantive progress to be made toward understanding and effectively treating AD. Furthermore, the continued support of outstanding programs such as ADNI as well as the development of novel molecular imaging agents and MRI fast scanning sequences will also be requisite to effectively translate preclinical findings to the clinic.

  17. Glycogen storage disease type I: clinical and laboratory profile

    Directory of Open Access Journals (Sweden)

    Berenice L. Santos

    2014-12-01

    Full Text Available OBJECTIVES: To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. METHODS: This was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were assessed. RESULTS: Twenty-one patients were included (median age 10 years, range 1-25 years, all using uncooked cornstarch therapy. Median age at diagnosis was 7 months (range, 1-132 months, and 19 patients underwent liver biopsy for diagnostic confirmation. Overweight, short stature, hepatomegaly, and liver nodules were present in 16 of 21, four of 21, nine of 14, and three of 14 patients, respectively. A correlation was found between height-for-age and BMI-for-age Z-scores (r = 0.561; p = 0.008. CONCLUSIONS: Diagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients.

  18. Hypertrophic cardiomyopathy: from gene defect to clinical disease

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    Major advances have been made over the last decade in our understanding of the molecular basis ofseveral cardiac conditions. Hypertrophic cardiomyopathy (HCM) was the first cardiac disorder in whicha genetic basis was identified and as such, has acted as a paradigm for the study of an inherited cardiacdisorder. HCM can result in clinical symptoms ranging from no symptoms to severe heart failure andpremature sudden death. HCM is the commonest cause of sudden death in those aged less than 35 years,including competitive athletes. At least ten genes have now been identified, defects in which cause HCM.All of these genes encode proteins which comprise the basic contractile unit of the heart, i.e. the sarcomere.While much is now known about which genes cause disease and the various clinical presentations, very littleis known about how these gene defects cause disease, and what factors modify the expression of the mutantgenes. Studies in both cell culture and animal models of HCM are now beginning to shed light on thesignalling pathways involved in HCM, and the role of both environmental and genetic modifying factors.Understanding these mechanisms will ultimately improve our knowledge of the basic biology of heart musclefunction, and will therefore provide new avenues for treating cardiovascular disease in man.

  19. Update on the clinical management of Wilson’s disease

    Science.gov (United States)

    Hedera, Peter

    2017-01-01

    Wilson’s disease (WD), albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be lifesaving. It is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Neurologic, psychiatric and hepatologic problems in WD are very nonspecific, and we discuss the most common clinical phenotypes. The diagnosis remains laboratory based, and here we review the most important challenges and pitfalls in laboratory evaluation of WD, including the emerging role of genetic testing in WD diagnosis. WD is a monogenic disorder but has very high allelic heterogeneity with >500 disease-causing mutations identified, and new insights into phenotype–genotype correlations are also reviewed. The gold standard of therapy is chelation of excessive copper, but many unmet needs exist because of possible clinical deterioration in treated patients and potential adverse effects associated with currently available chelating medications. We also review the most promising novel therapeutic approaches, including chelators targeting specific cell types, cell transplantation and gene therapy.

  20. Statistical Power of Studies Examining the Cognitive Effects of Subthalamic Nucleaus Deep Brain Stimulation in Parkinson’s Disease

    Science.gov (United States)

    2006-01-01

    bilateral subthalamic nucleus stimulation in Parkinson’s disease. Archives of Clinical Neuropsychology , 19, 165–181. 36 STEVEN PAUL WOODS ET AL. Patel...Formulae, illustrative numerical examples, and heuristic interpretation of effect size analyses for neuropsychological researchers. Archives of Clinical Neuropsychology , 16, 653–667. 38 STEVEN PAUL WOODS ET AL.

  1. Clinical effect of ibuprofen as an adjunct to non-surgical periodontal disease treatment

    Directory of Open Access Journals (Sweden)

    Đurić Milanko Đ.

    2002-01-01

    Full Text Available Twenty five patients with progresive periodontal disease entered this study in order to examine clinical effects of a non-steroidal anti-inflammatory drug - ibuprofen, used as an adjunct to non-surgical periodontal treatment. After scaling and root planning, patients were randomly assigned to either receive orally 200 mg of ibuprofen per day for one month (group A, or not receive the drug (group B. The obtained results show that the mechanical periodontal treatment brought to resolution the gingival inflammation with both group of patients. Although the mean values of the used indices were lower in group A than in group B, those differences were neither statistically nor clinically significant. We may conclude that systemic ibuprofen had no significant effect on plaque, gingival or bleeding index scores.

  2. Association between DNA Methylation of the BDNF Promoter Region and Clinical Presentation in Alzheimer's Disease

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    Tomoyuki Nagata

    2015-03-01

    Full Text Available Background/Aims: In the present study, we examined whether DNA methylation of the brain-derived neurotrophic factor (BDNF promoter is associated with the manifestation and clinical presentation of Alzheimer's disease (AD. Methods: Of 20 patients with AD and 20 age-matched normal controls (NCs, the DNA methylation of the BDNF promoter (measured using peripheral blood samples was completely analyzed in 12 patients with AD and 6 NCs. The resulting methylation levels were compared statistically. Next, we investigated the correlation between the DNA methylation levels and the clinical presentation of AD. Results: The total methylation ratio (in % of the 20 CpG sites was significantly higher in the AD patients (5.08 ± 5.52% than in the NCs (2.09 ± 0.81%; p Conclusion: These results suggest that the DNA methylation of the BDNF promoter may significantly influence the manifestation of AD and might be associated with its neurocognitive presentation.

  3. [Clinical aspects, outcome and prognosis of Horton's disease. Retrospective study of 47 cases].

    Science.gov (United States)

    Godeau, P; Aubert, L; Guillevin, L; Tard, P; Maaouni, A; Wechsler, B; Bletry, O; Herreman, G

    1982-01-01

    The authors report their experience of Horton's disease in 47 histologically confirmed cases treated between 1966 and 1979. The symptomatology is recalled with the incidence of the various clinical and biochemical signs. The actuarial survival curve shows a 71.2 p. cent three year and a 61 p. cent five year survival rate. There was no statistically significant difference at three years with a control population. The duration of maintenance therapy was, on average, of 24.8 months, never less than 15 months and sometimes reaching 60 months. The average maintenance dose was 12 mg. Specific and non-specific complications are discussed. The incidence of refractory and cortico-dependent forms shows that the optimal treatment for this disease has yet to be found; the often brilliant initial results of corticotherapy do not reflect its long-term efficacy.

  4. Unilateral Vogt-Koyanagi-Harada Disease: A Clinical Case Report

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    Arminda Neves

    2015-10-01

    Full Text Available Purpose: To report a case of a 20-year-old female with decreased visual acuity (VA in the left eye (LE. Methods: This is a retrospective and descriptive case report based on data from clinical records, patient observation and analysis of diagnostic tests. Results: A 20-year-old female presented with decreased VA in the LE for 3 days. Best-corrected visual acuity (BCVA was 20/20 in the right eye (RE and 20/40 in the LE. Pupillary function, intraocular pressure, results of external segment examinations and slit-lamp biomicroscopy were normal, bilaterally. RE fundoscopy was normal, and in the LE it revealed papillitis and posterior pole exudative retinal detachment. Optical coherence tomography (OCT confirmed the macular serous retinal detachment and showed thickening of the posterior choroid also revealed by orbital ultrasound and magnetic resonance imaging (MRI. Fluorescein angiography showed angiographic features typical of Vogt-Koyanagi-Harada (VKH disease: disseminated spotted choroidal hyperfluorescence and choroidal multifocal hypofluorescence, multifocal profuse leakage in the retina with pooling, serous retinal detachment and optic disc hyperfluorescence. Serological testing for the diagnosis of infectious pathologies was negative, and the review of systems was normal. The patient received systemic steroids and cyclosporine. LE BCVA improved up to 20/20 at 18 months after the diagnosis, with complete reabsorption of subretinal fluid and normal retinal and choroidal thickness by OCT. Conclusion: Despite the unilateral involvement, the clinical and angiographic features were typical of VKH disease, and ophthalmologists should be aware to recognize this rare clinical variant of the disease.

  5. Moyamoya Disease Clinical Course and Severity in Childhood

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    Ayse Kacar Bayram

    2016-01-01

    Full Text Available Aim: Moyamoya disease (MMD is a rare, progressive and oclusive cerebrovascular disorder, predominantly affecting the terminal segment of the internal carotid arteries (ICA and its main branches. The purpose of this study is to evaluate the clinical course and severity of MMD in pediatric patients. Material and Method: We examined 5 consecutive pediatric patients with MMD, focusing on clinical and radiological features, the therapy and outcome over the 58-month follow-up period. Results: The study population consisted of 3 boys and 2 girls. The mean age at diagnosis of patients was 7.2 ± 3.4 years (age range: 3-10 years. The mean duration of follow-up was 30.4 ± 17.4 months (follow-up interval: 12-58 months. Neurological findings at presentation included: motor deficit in 4 patients (80.0%, epileptic seizures in 2 patients (40.0%, movement disorders in 3 patients (60.0%, and headache in 1 patients (20.0%. There was areas of infarction on brain MRI in all patients. Angiographic findings included: internal carotid artery stenosis in all patients, anterior cerebral artery stenosis in 3 patients, middle cerebral artery stenosis in 3 patients, posterior cerebral artery stenosis in 2 patients, and vertebral artery stenosis in 1 patient. Enoxaparine therapy was started to all patients. Subdural hematoma developed in 1 patient during follow-up. Cerebral infarctions recurred despite medical treatment in 4 patients. Discussion: Although this disease is rare, it is an important cause of pediatric stroke. MMD shows different clinical course and disease severity in childhood. Early diagnosis and appropriate treatment are crucial.

  6. Uric Acid in Chronic Kidney Disease: A Clinical Appraisal

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    Andrea Galassi

    2016-07-01

    Full Text Available A consistent body of evidence supports an independent association between uric acid (UA level and the risk of chronic kidney disease (CKD in humans. It has been observed in experimental data that UA is capable of inducing renal damage through several pathways, including activation of the renin-angiotensinaldosterone system (RAAS, oxidative stress, and inflammation. Treatment with urate lowering agents and RAAS inhibitors prevented renal insult mediated by UA in animal models. Both of the xanthine oxidase inhibitors available in clinical practice, allopurinol and febuxostat, were efficient in controlling gout flares. However, data from randomised controlled trials are still inconsistent in relation to their benefit for slowing CKD progression. This review discusses the metabolism of urates in humans as well as the experimental and clinical evidence linking UA to CKD. Current evidence about the effect of allopurinol and febuxostat on CKD progression is also considered.

  7. Acute Psychosis as Major Clinical Presentation of Legionnaires’ Disease

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    Ricardo Coentre

    2016-01-01

    Full Text Available We report a case of a 61-year-old woman who presented with acute psychosis as a major manifestation of Legionnaires’ disease in the absence of other neuropsychiatric symptoms. Clinical history revealed dry cough and nausea. Observation showed fever and auscultation crackles in the lower lobe of the right lung. Laboratory testing demonstrated elevated C-reactive protein and lung chest radiograph showed patchy peribronchial and right lower lobe consolidation. Soon after admission, she started producing purulent sputum. Epidemiological data suggested Legionella pneumophila as possible cause of the clinical picture that was confirmed by urinary antigen detection and polymerase chain reaction of the sputum. She was treated with levofloxacin 750 mg/day for 10 days with complete remission of pulmonary and psychiatric symptoms. She has not had further psychotic symptoms.

  8. Statistical analysis of the main diseases among atomic bomb survivors. Study of inpatients in Hiroshima Atomic Bomb Hospital, 1981 - 1986

    Energy Technology Data Exchange (ETDEWEB)

    Hamada, Tadao; Kuramoto, Kiyoshi; Nambu, Shigeru

    1988-03-01

    Diseases found in 2,104 consequetive inpatients between April 1981 and March 1986 were statistically analyzed. The incidence of disease increased in the following order: diabetes mellitus > heart disease > cerebrovascular disorder > malignancy > hypertensive disease > arteriosclerosis > osteoarthritis. Malignancy is the most common cause of death or the highest mortality rate, followed by heart disease, cerebrovascular disorder, and liver cirrhosis. For the number of autopsy, the order of diseases was: malignancy, cardiovascular disease, gastrointestinal disease, respiratory tract disease, endocrine disease, and hematopoietic disease; for the incidence of autopsy, the order was: liver cirrhosis, diabetes mellitus, cerebrovascular disorder, malignancy, and heart disease. Malignancy accounted for 23 % of the inpatients. The incidence of malignancy increased in the following organs: stomach > liver > colon > lung > breast > biliary tract > esophagus. The incidence of leukemia was low. There was no definitive correlation between the incidence of malignancy and exposure distance, although the incidence of breast cancer tended to be high in the group exposed at less than or equal to2,000 m from the hypocenter. According to age class, gastric cancer was frequent in patients less than 40 years and more than 60 years. Liver cancer was the most common in the sixtieth decade of life of men. The incidence of lung cancer increased with advancing age; the incidence of breast cancer was higher in younger patients. (Namekawa, K.).

  9. Dysplasia in Inflammatory Bowel Diseases: Definition and Clinical Impact

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    Karel Geboes

    1999-01-01

    Full Text Available Dysplasia is a morphological term that ethymologically means ‘malformation’. For the definition of inflammatory bowel disease-related dysplasia, the nature and origin of the malformation are stressed and the lesion is defined as an epithelial malformation that is unequivocally neoplastic but noninvasive. The use of a precise definition is necessary because of the clinical consequences related to the finding of dysplasia in IBD. The microscopic diagnosis of dysplasia, however, remains difficult. Clinically, it is important to make a proper differential diagnosis between polypoid IBD-related dysplasia and sporadic adenoma occurring in IBD, and between therapy-related ‘pseudodysplasia’ and genuine dysplasia. When dysplasia is diagnosed, a second opinion may be indicated because of the clinical consequences. Additional techniques to search for genetic defects associated with carcinogenesis can help to support the diagnosis. They can identify changes in DNA content and molecular changes resulting from defects of genes controlling cell proliferation and death or tissue structure. These changes can, however, be absent, appear early or late in the transition from normality toward dysplasia and cancer, or appear during repair. Positive findings indicate an increased cancer risk, but the magnitude of the risk remains to be defined. A positive diagnosis of genuine dysplasia necessitates clinical action – either follow-up of the patient or treatment. In practice, treatment means surgery because dysplasia can be a precursor and/or a marker of malignancy, except for sporadic adenomas, which can be removed locally.

  10. Ivabradine in stable coronary artery disease without clinical heart failure

    DEFF Research Database (Denmark)

    Fox, Kim; Ford, Ian; Steg, Philippe Gabriel

    2014-01-01

    BACKGROUND: An elevated heart rate is an established marker of cardiovascular risk. Previous analyses have suggested that ivabradine, a heart-rate-reducing agent, may improve outcomes in patients with stable coronary artery disease, left ventricular dysfunction, and a heart rate of 70 beats per...... minute or more. METHODS: We conducted a randomized, double-blind, placebo-controlled trial of ivabradine, added to standard background therapy, in 19,102 patients who had both stable coronary artery disease without clinical heart failure and a heart rate of 70 beats per minute or more (including 12......,049 patients with activity-limiting angina [class ≥II on the Canadian Cardiovascular Society scale, which ranges from I to IV, with higher classes indicating greater limitations on physical activity owing to angina]). We randomly assigned patients to placebo or ivabradine, at a dose of up to 10 mg twice daily...

  11. Impulsive Behavior and Associated Clinical Variables in Parkinson's Disease

    Science.gov (United States)

    Abosch, Aviva; Gupte, Akshay; Eberly, Lynn E.; Tuite, Paul J.; Nance, Martha; Grant, Jon E.

    2011-01-01

    Parkinson's disease (PD) is a degenerative brain disorder accompanied by the loss of dopaminergic neurons and the presence of motor and non-motor symptoms. We performed a cross-sectional, questionnaire-based analysis of impulsive behavior in our PD clinic population to assess prevalence and associated characteristics. We found a higher prevalence of impulsive behavior (29.7%) than previously reported, and found multiple, concurrent impulsive behaviors in 26% of subjects reporting impulsive behavior. Our findings contribute to the growing awareness of impulsive behavior in PD, and support the need for longitudinal studies to assess changes in impulsive behaviors in Parkinson's patients. PMID:21300194

  12. Elastoma: clinical and histopathological aspects of a rare disease*

    Science.gov (United States)

    Maciel, Marina Gagheggi; Enokihara, Milvia Maria Simões e Silva; Seize, Maria Bandeira de Melo Paiva; Marcassi, Aline Pantano; Piazza, Christiane Affonso De Donato; Cestari, Silmara da Costa Pereira

    2016-01-01

    Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Histopathology with specific staining for elastic fibers is critical for a diagnostic conclusion. This report describes the case of a 7-year-old male patient with lesions diagnosed as elastoma, with absence of bone changes in the radiological imaging. This study aims to report the clinical presentation and histological examination of such unusual disease.

  13. Parkinson's disease: Impact of clinical and cognitive aspects on quality of life

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    Glória Maria Almeida Souza Tedrus

    Full Text Available Abstract Parkinson's disease (PD is a chronic disease manifested principally by motor signs and symptoms, but with frequent neuropsychological alterations. Objectives: To study the relationship between clinical and cognitive aspects and the perception of quality of life (QOL in PD patients. Methods: Twenty consecutive patients (13 men with idiopathic PD (mean age: 64.5y, mean disease time of 7.8 years and at stages 1-3 according to the modified Hoehn and Yahr staging scale (HYS, all outpatients from the Neurology Department of the Celso Pierro General and Maternity Hospital (PUC-Campinas, were analyzed. The following were applied: a clinical-neurological assessment, the Mini-Mental State Examination (MMSE, standard neuropsychological battery of the CERAD (Consortium to Establish a Registry for Alzheimer's Disease, Hamilton Depression Rating Scale (HAM-D and a QOL questionnaire (Parkinson's Disease Questionnaire - PDQ-39. Statistical analysis was carried out at a significance level of p<0.05. Results: On the PDQ-39 under the sections total, mobility and activities of daily living, and the items motor compromise (HYS and language of the MMSE were predictors of worse QOL. Verbal fluency was a factor for emotional well-being on the PDQ-39, whereas higher scores for HAM-D and worse performance on the item attention and calculation of the MMSE were associated with worse QOL in the social support section. Total score on the MMSE and educational level were QOL factors in cognition Conclusions: The findings of the present study suggest that clinical, cognitive, motor or other depression-related factors contribute differently to the domains of QOL.

  14. Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing.

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    Degui Zhi

    Full Text Available Recently, whole-genome sequencing, especially exome sequencing, has successfully led to the identification of causal mutations for rare monogenic Mendelian diseases. However, it is unclear whether this approach can be generalized and effectively applied to other Mendelian diseases with high locus heterogeneity. Moreover, the current exome sequencing approach has limitations such as false positive and false negative rates of mutation detection due to sequencing errors and other artifacts, but the impact of these limitations on experimental design has not been systematically analyzed. To address these questions, we present a statistical modeling framework to calculate the power, the probability of identifying truly disease-causing genes, under various inheritance models and experimental conditions, providing guidance for both proper experimental design and data analysis. Based on our model, we found that the exome sequencing approach is well-powered for mutation detection in recessive, but not dominant, Mendelian diseases with high locus heterogeneity. A disease gene responsible for as low as 5% of the disease population can be readily identified by sequencing just 200 unrelated patients. Based on these results, for identifying rare Mendelian disease genes, we propose that a viable approach is to combine, sequence, and analyze patients with the same disease together, leveraging the statistical framework presented in this work.

  15. Nutritional Risk, Micronutrient Status and Clinical Outcomes: A Prospective Observational Study in an Infectious Disease Clinic

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    Oguzhan Sıtkı Dizdar

    2016-02-01

    Full Text Available Malnutrition has been associated with increased morbidity and mortality. The objective of this study was to determine the nutritional status and micronutrient levels of hospitalized patients in an infectious disease clinic and investigate their association with adverse clinical outcomes. The nutritional status of the study participants was assessed using the Nutritional Risk Screening 2002 (NRS 2002 and micronutrient levels and routine biochemical parameters were tested within the first 24 h of the patient’s admission. The incidence of zinc, selenium, thiamine, vitamin B6, vitamin B12 deficiency were 66.7% (n = 40, 46.6% (n = 29, 39.7% (n = 27, 35.3% (n = 24, 14.1% (n = 9, respectively. Selenium levels were significantly higher in patients with urinary tract infections, but lower in soft tissue infections. Copper levels were significantly higher in patients with soft tissue infections. In the Cox regression models, lower albumin, higher serum lactate dehydrogenase levels and higher NRS-2002 scores were associated with increased death. Thiamine, selenium, zinc and vitamin B6 deficiencies but not chromium deficiencies are common in infectious disease clinics. New associations were found between micronutrient levels and infection type and their adverse clinical outcomes. Hypoalbuminemia and a high NRS-2002 score had the greatest accuracy in predicting death, systemic inflammatory response syndrome and sepsis on admission.

  16. Clinical, psychophysiological and psychological aspects of risk factors of periodontal disease development in clinically healthy persons

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    I.N. Nikulina

    2009-12-01

    Full Text Available The research goal is to determine risk factors of periodontal disease development, psychophysiological personal types and their interrelations in clinically healthy persons. 47 first-year cadets of St.-Petersburg Military School of radio electronics have been examined. This group of respondents has been chosen by presence of such social stressor as change of place of living (97,9% cadets have arrived in St.-Petersburg from other cities and republics of the Russian Federation and strict disciplinary conditions. The research has revealed a low level of oral hygiene, cases of mild gingivitis in most respondents. The general mental state of group under study is characterized by raised level of personal anxiety and low indices of reactive anxiety. The examined group has demonstrated anxiety, tension, indecision and lowered stress stability. Clinically healthy persons are more liable to develop inflammatory and inflammatory-destructive periodontal diseases. It was possible to determine psychophysiological features correlated with physiological parameters of risk degree of periodontal diseases. It may have a great significance in defining of periodontal disease etiology and pathogenesis

  17. Health related quality of life in pregeriatric patients with chronic diseases at urban, public supported clinics

    Directory of Open Access Journals (Sweden)

    Nguyen Kim M

    2003-10-01

    Full Text Available Abstract Background Understanding health-related quality of life (HRQOL leads to more effective and focused healthcare. America's growing health disparities makes it is increasingly necessary to understand the HRQOL of pregeriatric individuals who are now 55–64 years old, i.e. before they are eligible for federally mandated health care at age 65. Our study measured the self-perceived HRQOL of pregeriatric, poor patients with multiple chronic diseases treated at 2 public clinics. Methods Consecutive patients aged 55–64 years, many with multiple chronic diseases, responded in an interview to the 36-Item Short-Form Health Survey (SF–36 as a general measure of HRQOL during a regular visit to one of two university-staffed urban public clinics. Results The perceived physical and mental functioning of 316 pregeriatric patients was tabulated from SF–36 scores to yield their HRQOL. Their scores were statistically significantly lower than those of the general US pregeriatric population and lower than averages for US patients with multiple chronic diseases. All eight subscale scores of SF–36 were 16% to 36% lower compared with the averages of the general US pregeriatric population. Further, as the number of chronic diseases increased, the lower was the HRQOL. Lower physical and mental scores were associated with a lower income, unemployment, and higher numbers of multiple chronic diseases. Conclusion Chronic diseases have a powerful negative impact on perceived mental and physical functioning in pregeriatric patients. HRQOL information can assist health care providers to gain a more complete picture of their pregeriatric patients' health.

  18. Clinical features of retinal diseases masquerading as retrobulbar optic neuritis

    Institute of Scientific and Technical Information of China (English)

    JIANG Li-bin; SHEN Ce-ying; CHEN Fei; YAN Wei-yu; Timothy Y.Y.Lai; WANG Ning-li

    2013-01-01

    Background Managements of optic neuritis (ON) included high-dose corticosteroids or combined with systemic immunomodulatory agents.It was important to make a correct diagnosis of ON before initiation of treatment.The purpose of the study was to report and analyze the clinical features of retinal diseases in patients who were misdiagnosed as having retrobulbar ON.Methods Retrospective review of 26 patients (38 eyes) initially diagnosed with retrobulbar ON but were ultimately diagnosed with retinal or macular diseases.Data obtained from fundus examination,fluorescence fundus angiogrephy (FFA),automated static perimetry,full-field electroretinogram (ffERG),multifocal electroretinogram (mfERG),and optical coherence tomography (OCT) were evaluated.Results Thirty-eight eyes of 26 patients were found to have misdiagnosis of retrobulbar ON,based on normal or slight abnormal fundus findings and abnormal visual evoked potentials (VEP).The mean age of the patients was 34 years and the correct diagnosis of the patients included acute zonal occult outer retinopathy (AZOOR,15 eyes,14 patients),occult macular dystrophy (OMD,8 eyes,4 patients),cone or cone-rod dystrophy (10 eyes,5 patients),acute macular neuroretinopathy (AMNR,3 eyes,2 patients),and cancer-associated retinopathy (CAR,2 eyes,1 patient).Conclusion When attempting to diagnose retrobulbar ON in clinical practice,it is crucial to carry out necessary examinations of the retinal function and morphology to decrease misdiagnosis.

  19. [Refsum's disease. Epidemiologic, clinical and biological correlation. 6 cases].

    Science.gov (United States)

    Petit, H; Leys, D; Skjeldal, O H; Caron, J C; Lambert, P; Lehembre, P; Hache, J C

    1986-01-01

    Nine patients with symptoms and signs of Refsum's disease are reported. In 6 a systemic accumulation of phytanic acid was demonstrated, together with low phytanic acid oxidase activity in skin fibroblasts in 5 of them. In 3, no disorder of phytanic acid metabolism was demonstrated. In 3, the diagnosis was made during the pre-clinical period. The disease seems more frequent in Northern France, which agrees with the hypothesis of a genetic mutation which would have taken place in Scandinavia some centuries ago and was subsequently spread by the Vikings. The effects of a dietary treatment on serum phytanic acid levels and clinical disorders are reported. The general condition of the patients improved remarkably but only partially. The diet is unpalatable and in some patients the level of serum phytanic acid increased, due to the mobilization of body fat. Patients with very high levels of phytanic acid might be initially treated by plasmapheresis. For the same reason, the diet should supply enough calories to keep body weight unchanged, and body weight loss whatever its cause should be avoided.

  20. Clinical and laboratory characteristics of children with Kawasaki disease

    Directory of Open Access Journals (Sweden)

    Fatih Akın

    2015-03-01

    Full Text Available Objective: In this study, we aimed to evaluate clinical and laboratory characteristics of patients with Kawasaki disease (KD in Konya region of Turkey. Methods: The hospital records of patients who were hospitalized with the diagnosis of KD in the Pediatrics Clinics of Konya Training and Research Hospital between May 2010 and June 2012 were reviewed retrospectively. Results: Seven cases were found to have the diagnosis of KD, two of whom were incomplete KD. Oropharynx changes were the most common (100% feature in our patients. Five (71% patients had bulbar conjunctivitis. Three (43% patients had erythema at the site of BCG inoculation. Adenopathy was present in all of our patients with the classical form. A desquamation was observed in one case at the seventh day of fever. No cardiac manifestation was seen. Elevated erythrocyte sedimentation rate and thrombocytosis were present in all patients. All of the patients were received intravenous immunoglobulin in the first ten days of the fever. Conclusion: KD should be considered as a possible diagnosis in any child presenting with prolonged fever. BCG reaction can be attributed as a diagnostic criterion for incomplete form of the disease especially in countries where BCG vaccination is routinely performed. Early treatment is essential to prevent cardiovascular complications.

  1. Atypical Clinical Manifestations of Graves' Disease: An Analysis in Depth

    Directory of Open Access Journals (Sweden)

    Mohamed Osama Hegazi

    2012-01-01

    Full Text Available Over the past few decades, there has been an increase in the number of reports about newly recognized (atypical or unusual manifestations of Graves' disease (GD, that are related to various body systems. One of these manifestations is sometimes the main presenting feature of GD. Some of the atypical manifestations are specifically related to GD, while others are also similarly seen in patients with other forms of hyperthyroidism. Lack of knowledge of the association between these findings and GD may lead to delay in diagnosis, misdiagnosis, or unnecessary investigations. The atypical clinical presentations of GD include anemia, vomiting, jaundice, and right heart failure. There is one type of anemia that is not explained by any of the known etiological factors and responds well to hyperthyroidism treatment. This type of anemia resembles anemia of chronic disease and may be termed GD anemia. Other forms of anemia that are associated with GD include pernicious anemia, iron deficiency anemia of celiac disease, and autoimmune hemolytic anemia. Vomiting has been reported as a presenting feature of Graves' disease. Some cases had the typical findings of hyperthyroidism initially masked, and the vomiting did not improve until hyperthyroidism has been detected and treated. Hyperthyroidism may present with jaundice, and on the other hand, deep jaundice may develop with the onset of overt hyperthyroidism in previously compensated chronic liver disease patients. Pulmonary hypertension is reported to be associated with GD and to respond to its treatment. GD-related pulmonary hypertension may be so severe to produce isolated right-sided heart failure that is occasionally found as the presenting manifestation of GD.

  2. Clinical features of rheumatoid arthritis-associated interstitial lung disease.

    Science.gov (United States)

    Wang, Ting; Zheng, Xing-Ju; Liang, Bin-Miao; Liang, Zong-An

    2015-10-07

    Interstitial lung disease (ILD) is the most common extra-articular manifestations of rheumatoid arthritis (RA) in the lung. This study aimed to identify clinical features of RA-associated ILD (RA-ILD). Patients with RA were retrospectively enrolled and sub-classified as RA-ILD or RA without ILD based on high-resolution computed tomography imaging. Pulmonary function testing parameters and levels of RA-related biomarkers, tumour markers, and acute-phase proteins were compared between the two groups. Logistic regression model was used to assess the strength of association between RA-ILD and clinical features of interest. Receiver operating characteristic analysis was performed to assess potential predictive value of clinical features for detecting RA-ILD. Comparison analysis indicated that the percentage of predicted value of total lung capacity, inspiratory capacity, and diffusion capacity of the lung for carbon monoxide (DLCO) were reduced in patients with RA-ILD. Tumour markers CA15-3 and CA125 were increased in patients with RA-ILD. Logistic regression analysis revealed that decreased DLCO was related to the increased likelihood of RA-ILD (OR = 0.94, 95%CI = [0.91, 0.98]). The cut-off point at 52.95 percent of predicted value could sensitively discriminate RA patients with or without ILD. Our study suggested that DLCO value could be a useful tool for detecting ILD in patients with RA.

  3. Genetic testing in congenital heart disease:A clinical approach

    Institute of Scientific and Technical Information of China (English)

    Marie A Chaix; Gregor Andelfinger; Paul Khairy

    2016-01-01

    Congenital heart disease(CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient followup. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel.

  4. Clinical Application of Vascular Regenerative Therapy for Peripheral Artery Disease

    Directory of Open Access Journals (Sweden)

    Hiroshi Suzuki

    2013-01-01

    Full Text Available Prognosis of peripheral artery disease (PAD, especially critical limb ischemia, is very poor despite the development of endovascular therapy and bypass surgery. Many patients result in leg amputation and, therefore, vascular regenerative therapy is expected in this field. Gene therapy using vascular endothelial growth factor is the first step of vascular regenerative therapy, but did not confirm effectiveness in a large-scale randomized comparative study. Based on animal experiments, bone marrow mononuclear cells (MNCs, peripheral blood MNCs were used as the cell source for regenerative therapy. Those cells were confirmed to be effective to decrease rest pain and ulcer size, but its effect was not fully satisfied. Mesenchymal stem cells (MSCs are expected as an effective cell source for vascular regeneration and clinical studies are ongoing, because the cells are able to differentiate into various cell types and produce a significant amount of vascular growth factors. Of vascular regeneration therapy, peripheral MNCs and bone marrow MNCs were recognized as advanced medical technology but do not attain to the standard therapy. However, clinical use of MSCs have already started, and induced pluripotent stem cells are surely promising tool for vascular regeneration therapy although further basic studies are required for clinical application.

  5. Mining heart disease risk factors in clinical text with named entity recognition and distributional semantic models.

    Science.gov (United States)

    Urbain, Jay

    2015-12-01

    We present the design, and analyze the performance of a multi-stage natural language processing system employing named entity recognition, Bayesian statistics, and rule logic to identify and characterize heart disease risk factor events in diabetic patients over time. The system was originally developed for the 2014 i2b2 Challenges in Natural Language in Clinical Data. The system's strengths included a high level of accuracy for identifying named entities associated with heart disease risk factor events. The system's primary weakness was due to inaccuracies when characterizing the attributes of some events. For example, determining the relative time of an event with respect to the record date, whether an event is attributable to the patient's history or the patient's family history, and differentiating between current and prior smoking status. We believe these inaccuracies were due in large part to the lack of an effective approach for integrating context into our event detection model. To address these inaccuracies, we explore the addition of a distributional semantic model for characterizing contextual evidence of heart disease risk factor events. Using this semantic model, we raise our initial 2014 i2b2 Challenges in Natural Language of Clinical data F1 score of 0.838 to 0.890 and increased precision by 10.3% without use of any lexicons that might bias our results.

  6. THE CLINICAL MANIFESTATIONS OF CALCIUM PYROPHOSPHATE CRYSTAL DEPOSITION DISEASE

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    F. M. Kudaeva

    2014-01-01

    Full Text Available Objective: to provide the clinical characteristics of joint injury in patients with calcium pyrophosphate crystal (CPC deposition disease.Subjects and methods. The trial enrolled 68 patients (43 women, 25 men with a verified diagnosis of CPC deposition disease. Their mean age was 60.2±11.8 years and disease duration was 7.5±6.4 years. Examination revealed the presence of arthritis and arthralgias. Polarizing microscopy with an Olympus CX31-P compensator was used to detectcrystals in synovial fluid. X-ray study of the knee joints was performed in the anteroposterior and lateral projections and that of the hand joints was in the frontal projection, Ultrasonography (USG of the knee and wrist joints was done using a GE Voluson-I transducer.Results. A concurrence of arthritis and arthralgias was noted in 37 (54% patients; 24 (36% patients had arthralgias only; 7 (10% had arthritis only. Arthritis affecting the knee, wrist, ankle, and first metacarpophalangeal joints was observed in 53, 15, 12, and 6% of cases, respectively. There was acute arthritis in 18% of the patients and chronic arthritis in 39%; the rate of CPC osteoarthrosis was 43%. Joint USG diagnosed knee and wrist joint chondrocalcinosis in 94 and 56% of the patients, respectively. USG could reveal asymptomatic wrist joint chondrocalcinosis significantly more often (in 56 and 17% of the patients, respectively; p = 0.008. Besides, USG could visualize synovitis in the knee joints in 88% of the patients with isolated arthralgias in them and synovitis in the wrinkle joints in 52% of the patients without clinical signs of inflammation in them.Conclusion. Osteoarthrosis is the most common form of CPC deposition disease. Knee joints in this disease are most frequently involved. Joint USG is of more informative value in detecting chondrocalcinosis than X-ray study; USG can also identify synovitis in the intact joints.

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

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

    2015-04-01

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

  8. Clinical Features Associated with Frozen Shoulder Syndrome in Parkinson's Disease.

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    Chang, Ya-Ting; Chang, Wen-Neng; Tsai, Nai-Wen; Cheng, Kuei-Yueh; Huang, Chih-Cheng; Kung, Chia-Te; Su, Yu-Jih; Lin, Wei-Che; Cheng, Ben-Chung; Su, Chih-Min; Chiang, Yi-Fang; Lu, Cheng-Hsien

    2015-01-01

    Background. Frozen shoulder syndrome is a common musculoskeletal disease of idiopathic Parkinson's disease (PD) that causes long-term pain and physical disability. A better understanding of the associated factors can help identify PD patients who will require prevention to improve their quality of life. Methodology. This prospective study evaluated 60 shoulders of 30 PD patients. Correlation analysis was used to evaluate the relationships between clinical factors and shoulder sonography findings. Results. Frozen shoulder syndrome was found in 14 of 30 PD patients affecting 19 shoulders, including bilateral involvement in five and unilateral involvement in nine. There was a significant positive correlation between the parameters of sonography findings and frozen shoulder syndrome (i.e., thickness of bicipital effusion and tendon thickness of the subscapularis and supraspinatus) and mean ipsilateral Unified Parkinson's Disease Rating Scale (UPDRS) III and its subscores (tremor, rigidity, and bradykinesia scores). Conclusions. Higher ipsilateral UPDRS and subscores are associated with increased effusion around the biceps tendon, with increased tendon thickness of subscapularis and supraspinatus. Preventing frozen shoulder syndrome in the high-risk PD group is an important safety issue and highly relevant for their quality of life.

  9. A statistical model for monitoring shell disease in inshore lobster fisheries: A case study in Long Island Sound.

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    Tanaka, Kisei R; Belknap, Samuel L; Homola, Jared J; Chen, Yong

    2017-01-01

    The expansion of shell disease is an emerging threat to the inshore lobster fisheries in the northeastern United States. The development of models to improve the efficiency and precision of existing monitoring programs is advocated as an important step in mitigating its harmful effects. The objective of this study is to construct a statistical model that could enhance the existing monitoring effort through (1) identification of potential disease-associated abiotic and biotic factors, and (2) estimation of spatial variation in disease prevalence in the lobster fishery. A delta-generalized additive modeling (GAM) approach was applied using bottom trawl survey data collected from 2001-2013 in Long Island Sound, a tidal estuary between New York and Connecticut states. Spatial distribution of shell disease prevalence was found to be strongly influenced by the interactive effects of latitude and longitude, possibly indicative of a geographic origin of shell disease. Bottom temperature, bottom salinity, and depth were also important factors affecting the spatial variability in shell disease prevalence. The delta-GAM projected high disease prevalence in non-surveyed locations. Additionally, a potential spatial discrepancy was found between modeled disease hotspots and survey-based gravity centers of disease prevalence. This study provides a modeling framework to enhance research, monitoring and management of emerging and continuing marine disease threats.

  10. Clinical heterogeneity in patients with early-stage Parkinson's disease: a cluster analysis

    Institute of Scientific and Technical Information of China (English)

    Ping LIU; Tao FENG; Yong-jun WANG; Xuan ZHANG; Biao CHEN

    2011-01-01

    The aim of this study was to investigate the clinical heterogeneity of Parkinson's disease (PD) among a cohort of Chinese patients in early stages.Clinical data on demographics,motor variables,motor phenotypes,disease progression,global cognitive function,depression,apathy,sleep quality,constipation,fatigue,and L-dopa complications were collected from 138 Chinese PD subjects in early stages (Hoehn and Yahr stages 1-3).The PD subject subtypes were classified using k-means cluster analysis according to the clinical data from five- to three-cluster consecutively.Kappa statistical analysis was performed to evaluate the consistency among different subtype solutions.The cluster analysis indicated four main subtypes:the non-tremor dominant subtype (NTD,n=28,20.3%),rapid disease progression subtype (RDP,n=7,5.1%),young-onset subtype (YO,n=50,36.2%),and tremor dominant subtype (TD,n=53,38.4%).Overall,78.3% (108/138) of subjects were always classified between the same three groups (52 always in TD,7 in RDP,and 49 in NTD),and 98.6% (136/138) between five- and four-cluster solutions.However,subjects classified as NTD in the four-cluster analysis were dispersed into different subtypes in the three-cluster analysis,with low concordance between four- and three-cluster solutions (kappa value=-0.139,P=0.001 ).This study defines clinical heterogeneity of PD patients in early stages using a data-driven approach.The subtypes generated by the four-cluster solution appear to exhibit ideal internal cohesion and external isolation.

  11. AUDIOLOGICAL EVALUATION IN AUTO - IMMUNE SKIN DISEASES : A CLINICAL STUDY OF 124 PATIENTS

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    Sesha Prasad

    2015-04-01

    Full Text Available INTRODUCTION : 124 patients with common dermatological conditions with an auto - immune etiology are evaluated for hearing , irrespective of complaints of hearing loss . Auto - immunity is described as an etiology of Sudden or Progressive Sensory neural Hearing Loss ; similarly auto - immunity is described as an etiology for many skin diseases like Psoriasis , De rmatomyositis etc ., and the present study evaluates hearing thresholds in patients with auto - immune skin disorders . Auto - immunity is the etiology for both these conditions , causes many changes in the micro vasculature of the various organs and produces imm une complexes in the body . Hence evaluation of other organs in the presence of clinically evident autoimmune disease in one organ will guide the clinician for early diagnosis of auto immunity . So the patients with alopecia areata , Dermatomyositis , Psoriasis , Systemic sclerosis , Systemic Lupus Erythematoses , Vitiligo , Epidermolysis Bullosa and scleroderma are included in the present study for hearing evaluation . MATERIALS AND METHODS : 124 Patients attending the department of Dermatology and diagnosed with the following diseases are included in the present study ; 1 . Alopecia areata 2 . Dermatomyositis 3 . Psoriasis 4 . Systemic sclerosis 5 . Systemic Lupus Erythematoses 6 . Vitiligo 7 . Epidermolysis Bullosa . This is a prospective study conducted at GGH , Kur nool , and Andhra Pradesh . The diagnosis of the clinical entities included in this study is done according to clinical and Histopathological findings . The patients are referred from the Department of Dermatology for evaluation . After thorough history taking , the Patients are subjected for ENT examination . Pure Tone Audiometry at 250 , 500 , 1 , 000 , 2 , 000 , 4 , 000 , 6 , 000 and 8 , 000 Hz is done followed by Impedance audiometry ; including tympanometry and acoustic reflexes are done . CONCLUSION : Audiological evaluation in autoimmune skin diseases

  12. Combining gene expression, demographic and clinical data in modeling disease: a case study of bipolar disorder and schizophrenia

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    Dobrin Seth

    2008-11-01

    Full Text Available Abstract Background This paper presents a retrospective statistical study on the newly-released data set by the Stanley Neuropathology Consortium on gene expression in bipolar disorder and schizophrenia. This data set contains gene expression data as well as limited demographic and clinical data for each subject. Previous studies using statistical classification or machine learning algorithms have focused on gene expression data only. The present paper investigates if such techniques can benefit from including demographic and clinical data. Results We compare six classification algorithms: support vector machines (SVMs, nearest shrunken centroids, decision trees, ensemble of voters, naïve Bayes, and nearest neighbor. SVMs outperform the other algorithms. Using expression data only, they yield an area under the ROC curve of 0.92 for bipolar disorder versus control, and 0.91 for schizophrenia versus control. By including demographic and clinical data, classification performance improves to 0.97 and 0.94 respectively. Conclusion This paper demonstrates that SVMs can distinguish bipolar disorder and schizophrenia from normal control at a very high rate. Moreover, it shows that classification performance improves by including demographic and clinical data. We also found that some variables in this data set, such as alcohol and drug use, are strongly associated to the diseases. These variables may affect gene expression and make it more difficult to identify genes that are directly associated to the diseases. Stratification can correct for such variables, but we show that this reduces the power of the statistical methods.

  13. Assessing corpus callosum changes in Alzheimer's disease: comparison between tract-based spatial statistics and atlas-based tractography.

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    Maria Giulia Preti

    Full Text Available Tractography based on Diffusion Tensor Imaging (DTI represents a valuable tool for investigating brain white matter (WM microstructure, allowing the computation of damage-related diffusion parameters such as Fractional Anisotropy (FA in specific WM tracts. This technique appears relevant in the study of pathologies in which brain disconnection plays a major role, such as, for instance, Alzheimer's Disease (AD. Previous DTI studies have reported inconsistent results in defining WM abnormalities in AD and in its prodromal stage (i.e., amnestic Mild Cognitive Impairment; aMCI, especially when investigating the corpus callosum (CC. A reason for these inconsistencies is the use of different processing techniques, which may strongly influence the results. The aim of the current study was to compare a novel atlas-based tractography approach, that sub-divides the CC in eight portions, with Tract-Based Spatial Statistics (TBSS when used to detect specific patterns of CC FA in AD at different clinical stages. FA data were obtained from 76 subjects (37 with mild AD, 19 with aMCI and 20 elderly healthy controls, HC and analyzed using both methods. Consistent results were obtained for the two methods, concerning the comparisons AD vs. HC (significantly reduced FA in the whole CC of AD patients and AD vs. aMCI (significantly reduced FA in the frontal portions of the CC in AD patients, thus identifying a relative preservation of the frontal CC regions in aMCI patients compared to AD. Conversely, the atlas-based method but not the TBSS showed the ability to detect a selective FA change in the CC parietal, left temporal and occipital regions of aMCI patients compared to HC. This finding indicates that an analysis including a higher number of voxels (with no restriction to tract skeletons may detect characteristic pattern of FA in the CC of patients with preclinical AD, when brain atrophy is still modest.

  14. Diverse Clinical Signs of Ocular Involvement in Cat Scratch Disease

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    Oray, Merih; Önal, Sumru; Koç Akbay, Aylin; Tuğal Tutkun, İlknur

    2017-01-01

    Objectives: To describe ocular manifestations, diagnosis, and treatment of cat scratch disease. Materials and Methods: Clinical records of patients with ocular cat scratch disease were reviewed. Results: Thirteen eyes of 10 patients (7 female, 3 male) with a mean age of 26.9±18.5 years were included. Nine patients had a history of cat contact and had systemic symptoms associated with cat scratch disease 2-90 days prior to the ocular symptoms. Ocular signs were: neuroretinitis in 4 eyes (associated with serous retinal detachment in the inferior quadrant in 1 eye), optic neuropathy in 2 eyes (1 papillitis and optic disc infiltration, 1 optic neuritis), retinal infiltrates in 6 eyes, retinochoroiditis in 1 eye, branch retinal arteriolar occlusion in 3 eyes, and endophthalmitis in 1 eye. Visual acuities at presentation were 1.0 in 7 eyes, 0.3 in 1 eye, ≤0.1 in 4 eyes, and light perception in 1 eye. Bartonella henselae immunoglobulin (Ig) M and/or IgG were positive in all patients. Systemic antibiotic therapy was administered in all patients. Systemic corticosteroid treatment (15-40 mg/day) was added to the therapy in 4 patients, following 5 days of intravenous pulse methylprednisolone in 2 patients. Treatment was ongoing for 1 patient and the mean treatment duration of the other 9 patients was 47±14.5 days. Visual acuities at final visit were 1.0 in 9 eyes, 0.8 in 1 eye, 0.4 in 1 eye, and no light perception in 1 eye. Conclusion: Cat scratch disease may present with different ocular signs and should be considered in the differential diagnosis in patients with such presentations. PMID:28182175

  15. Importance of clinical examination in diagnostics of Osgood-Schlatter Disease in boys playing soccer or basketball

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    Amela Halilbasic

    2012-04-01

    Full Text Available Introduction: Osgood–Schlatter disease is an irritation of the patellar tendon at the tibial tubercle. Sports with jumps, running, and repeated contractions of knee extension apparatus are considered to be importantexternal risk-factors which could cause Osgood–Schlatter disease.Objectives of the study are to draw attention to the importance of clinical examination in diagnostics of Osgood–Schlatter disease in boys playing soccer or basketball.Methods: The research included data obtained from 120 boys, average age of 14 years. Examinees were split into two groups, one with young athletes which regularly have soccer or basketball trainings and thesecond one with boys who do not participating in sports. We performed anthropological measurements and clinical examinations of both knees and hips for both groups. For the statistical analysis we used pointbiserialcorrelation coefficient.Results: Based on clinical examination, Osgood–Schlatter disease was diagnosed in 51 examinees (42.5%. In “athletic group” Osgood–Schlatter disease had 31 boys or 52%, comparing with “non-athletic group” wherewe found 20 adolescents with disease (33%. Number of boys with Osgood–Schlatter disease was higher for 19% in “athletic group” comparing with “non-athletic group”. Comparing incidence rate for boys in both groups with diagnosed II and III level of Osgood–Schlatter disease we found that rate is higher in “athletic group” 2.25 times comparing with “non-athletic group”.Conclusions: Clinical examination is critical method in the process of diagnosing Osgood–Schlatter disease especially for identifying II and III level of this disease.

  16. Clinical review 138: Anabolic-androgenic steroid therapy in the treatment of chronic diseases.

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    Basaria, S; Wahlstrom, J T; Dobs, A S

    2001-11-01

    The purpose of this study was to review the preclinical and clinical literature relevant to the efficacy and safety of anabolic androgen steroid therapy for palliative treatment of severe weight loss associated with chronic diseases. Data sources were published literature identified from the Medline database from January 1966 to December 2000, bibliographic references, and textbooks. Reports from preclinical and clinical trials were selected. Study designs and results were extracted from trial reports. Statistical evaluation or meta-analysis of combined results was not attempted. Androgenic anabolic steroids (AAS) are widely prescribed for the treatment of male hypogonadism; however, they may play a significant role in the treatment of other conditions as well, such as cachexia associated with human immunodeficiency virus, cancer, burns, renal and hepatic failure, and anemia associated with leukemia or kidney failure. A review of the anabolic effects of androgens and their efficacy in the treatment of these conditions is provided. In addition, the numerous and sometimes serious side effects that have been known to occur with androgen use are reviewed. Although the threat of various side effects is present, AAS therapy appears to have a favorable anabolic effect on patients with chronic diseases and muscle catabolism. We recommend that AAS can be used for the treatment of patients with acquired immunodeficiency syndrome wasting and in severely catabolic patients with severe burns. Preliminary data in renal failure-associated wasting are also positive. Advantages and disadvantages should be weighed carefully when comparing AAS therapy to other weight-gaining measures. Although a conservative approach to the use of AAS in patients with chronic diseases is still recommended, the utility of AAS therapy in the attenuation of severe weight loss associated with disease states such as cancer, postoperative recovery, and wasting due to pulmonary and hepatic disease should be

  17. Clinical Effectiveness of Aloe Vera in the Management of Oral Mucosal Diseases- A Systematic Review

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    Nair, Gopakumar Ramachandran; Naidu, Giridhar Seetharam; Jain, Supreet; Makkad, Ramanpal Singh; Jha, Abhishek

    2016-01-01

    Introduction Aloe vera is well known for its medicinal properties which lead to its application in treating various diseases. Its use in treating oral lesions has not been much documented in literature. Aim Although, systematic reviews on aloe vera and its extracts have been done earlier, but in relation to oral diseases this is the first systematic review. The aim of the present systematic review was to compile evidence based studies on the effectiveness of Aloe vera in treatment of various oral diseases. Materials and Methods Computerized literature searches were performed to identify all published articles in the subject. The following databases were used: PUBMED [MEDLINE], SCOPUS, COCHRANE DATABASE, EMBASE and SCIENCE DIRECT using specific keywords. The search was limited to articles published in English or with an English Abstract. All articles (or abstracts if available as abstracts) were read in full. Data were extracted in a predefined fashion. Assessment was done using Jadad score. Results Fifteen studies satisfied the inclusion criteria. Population of sample study ranged from 20 patients to 110 patients with clinically diagnosed oral mucosal lesions. Out of 15 studies, five were on patients with oral lichen planus, two on patients with oral submucous fibrosis, other studies were carried on patients with burning mouth syndrome, radiation induced mucositis, candida associated denture stomatitis, xerostomic patients and four were on minor recurrent apthous stomatitis. Most studies showed statistically significant result demonstrating the effectiveness of Aloe vera in treatment of oral diseases. Conclusion Although there are promising results but in future, more controlled clinical trials are required to prove the effectiveness of Aloe vera for management of oral diseases. PMID:27656587

  18. Analysis of clinical and biochemical spectrum of Wilson Disease patients

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    Sumreena Mansoor

    2012-01-01

    Full Text Available Background and Aims: Wilson disease (WD is autosomal recessive disorder of copper metabolism. Wilson disease patients usually suffer from hepatic or neuropsychiatric complications. The symptoms appear between ages five to 35 but it can vary from two years to 72 years. Materials and Methods : Study was carried out from June 2008 to November 2010. This study included nine families with eleven cases of WD to determine clinical presentation, diagnostic findings (including laboratory results and liver histology. It included 11 patients who presented with hepatic manifestations and/or Neuropsychiatric manifestations and/or family history suggesting features of WD. Patients with hepatitis B and C and those with history of taking antipsychotic drugs were excluded from the study. Patient′s data was included in a well designed performa. Liver function test, serum ceruloplasmin, serum copper, 24 hour urinary copper, blood complete picture were analyzed. Quantitative data such as age, hemoglobin etc were expressed as mean with ± SD and quantitative variables such as sex, movement disorders, hepatic involvement etc were expressed as frequency and percentage. Results: There were five male and six female patients with evidence of various manifestations here (i hepatic in which they had only liver dysfunction (ii hepatic and neurological (iii neurological. The mean age of presentation was 8.7±3.92 years (range 4-19 years and 45% were male patients. Decreased serum ceruloplasmin, enhanced 24-h urinary copper excretion and signs of chronic liver damage were confirmed in all patients and Kayser-Fleischer rings (KF rings in 72% of patients. In severe WD patients, serum prothrombin activity was less than 50%, serum ceruloplasmin were low and serum copper levels were high than those in non-severe WD patients. High degree of suspicion leads to early treatment with good outcome. Conclusions: The WD is rare but important cause of chronic liver disease. Clinical and

  19. Evaluating traditional Chinese medicine using modern clinical trial design and statistical methodology: application to a randomized controlled acupuncture trial.

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    Lao, Lixing; Huang, Yi; Feng, Chiguang; Berman, Brian M; Tan, Ming T

    2012-03-30

    Traditional Chinese medicine (TCM), used in China and other Asian counties for thousands of years, is increasingly utilized in Western countries. However, due to inherent differences in how Western medicine and this ancient modality are practiced, employing the so-called Western medicine-based gold standard research methods to evaluate TCM is challenging. This paper is a discussion of the obstacles inherent in the design and statistical analysis of clinical trials of TCM. It is based on our experience in designing and conducting a randomized controlled clinical trial of acupuncture for post-operative dental pain control in which acupuncture was shown to be statistically and significantly better than placebo in lengthening the median survival time to rescue drug. We demonstrate here that PH assumptions in the common Cox model did not hold in that trial and that TCM trials warrant more thoughtful modeling and more sophisticated models of statistical analysis. TCM study design entails all the challenges encountered in trials of drugs, devices, and surgical procedures in the Western medicine. We present possible solutions to some but leave many issues unresolved.

  20. Chronic obstructive pulmonary disease and heart failure: research and clinical practice in primary care

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    Francesco Chiumeo

    2015-12-01

    Full Text Available The treatment of chronic obstructive pulmonary disease (COPD and comorbidities, increasing with age, is the challenge that nowadays health care systems are facing to better care treat these patients. For this reason a clinical trial was conducted in the province of Trento by a group of 30 volunteer general practitioners members of SNAMID (Scientific Society for Continuing Medical Education of General Practitioners. The objectives were to identify: i prevalence of COPD in patients (65-98 years in the province of Trento; ii presence and incidence of heart failure (HF in COPD patients; iii early detection of other chronic diseases; and iv improving electronic medical records (EMR as an innovation way of professional care management. From May 2011 to October 2013, 17 doctors completed the two-year work using the EMR. The studied patients were men and women (65-98 years, suffering from COPD; the considered data included: anthropometric information, smoking status, International Classification of Diseases (ICD-9 diagnosis of COPD, HF and chronic diseases, specific blood and instrumental tests. The extracted results were then linked with data of sentinel therapies, collected by the EMR. The database obtained identified patients with COPD or HF not previously recognized with ICD-9 diagnosis. The study identified the sentinel drugs chosen for COPD and HF, excluding other drugs not selective for the study or confusing for a proper statistical evaluation.

  1. Statistical, Practical, Clinical, and Personal Significance: Definitions and Applications in Speech-Language Pathology

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    Bothe, Anne K.; Richardson, Jessica D.

    2011-01-01

    Purpose: To discuss constructs and methods related to assessing the magnitude and the meaning of clinical outcomes, with a focus on applications in speech-language pathology. Method: Professionals in medicine, allied health, psychology, education, and many other fields have long been concerned with issues referred to variously as practical…

  2. Hepcidin modulation in human diseases: From research to clinic

    Institute of Scientific and Technical Information of China (English)

    Alberto Piperno; Raffaella Mariani; Paola Trombini; Domenico Girelli

    2009-01-01

    By modulating hepcidin production, an organism controls intestinal iron absorption, iron uptake and mobilization from stores to meet body iron need. In recent years there has been important advancement in our knowledge of hepcidin regulation that also has implications for understanding the physiopathology of some human disorders. Since the discovery of hepcidin and the demonstration of its pivotal role in iron homeostasis, there has been a substantial interest in developing a reliable assay of the hormone in biological fluids. Measurement of hepcidin in biological fluids can improve our understanding of iron diseases and be a useful tool for diagnosis and clinical management of these disorders. We reviewed the literature and our own research on hepcidin to give an updated status of the situation in this rapidly evolving field.

  3. Multiple Sclerosis: two clinical presentations, a single disease!

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    Ana Margarida Ferreira da Silva

    2014-09-01

    Full Text Available Objective: this case report aims to demonstrate the diversity of clinical presentations, the symptoms evolution and the role of the primary care physician in the diagnosis and management of patients with multiple sclerosis, and their families. Case descriptions: two women, 31 and 28 years old, Caucasian, inserted within nuclear families (phases II and IV of the Duvall’ cycle, respectively belonging to the middle class of Graffar. The first one starts an insidious symptom of paraesthesia of the hands with improvement in 2 months. Within a year, she presents with difficulty raising the eyelids and marked imbalance. The second one presents sudden loss of visual acuity on the right, having been diagnosed with optic neuritis. Both were diagnosed with multiple sclerosis. Conclusion: multiple sclerosis is a chronic inflammatory, degenerative and demyelinating disease of the central nervous system that manifests heterogeneously. It is important for the family doctor to know how to deal with diagnostic uncertainties.

  4. DNA Damage in Chronic Kidney Disease: Evaluation of Clinical Biomarkers

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    Nicole Schupp

    2016-01-01

    Full Text Available Patients with chronic kidney disease (CKD exhibit an increased cancer risk compared to a healthy control population. To be able to estimate the cancer risk of the patients and to assess the impact of interventional therapies thereon, it is of particular interest to measure the patients’ burden of genomic damage. Chromosomal abnormalities, reduced DNA repair, and DNA lesions were found indeed in cells of patients with CKD. Biomarkers for DNA damage measurable in easily accessible cells like peripheral blood lymphocytes are chromosomal aberrations, structural DNA lesions, and oxidatively modified DNA bases. In this review the most common methods quantifying the three parameters mentioned above, the cytokinesis-block micronucleus assay, the comet assay, and the quantification of 8-oxo-7,8-dihydro-2′-deoxyguanosine, are evaluated concerning the feasibility of the analysis and regarding the marker’s potential to predict clinical outcomes.

  5. Clinical Effects of Topical Tacrolimus on Fox-Fordyce Disease

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    Hilal Kaya Erdoğan

    2015-01-01

    Full Text Available Fox-Fordyce Disease (FFD is a rare, chronic, pruritic, inflammatory disorder of apocrine glands. It is characterized by dome-shaped, firm, discrete, skin-colored, and monomorphic perifollicular papules. The most common sites of involvement are axillae and anogenital and periareolar regions which are rich in apocrine sweat glands. Treatment is difficult. Topical, intralesional steroids, topical tretinoin, adapalene, clindamycin, benzoyl peroxide, oral contraceptives, isotretinoin, phototherapy, electrocauterisation, excision-liposuction and curettage, and fractional carbon dioxide laser are among the treatment options. In the literature, there are articles reporting beneficial effects of pimecrolimus in FFD. Nevertheless, there have not been any reports about the use of tacrolimus in FFD. We report two patients diagnosed with FFD by clinical and histopathologic examination and discussed therapeutic effects of topical tacrolimus on FFD in the light of literature.

  6. Clinical spectrum of impulse control disorders in Parkinson's disease.

    Science.gov (United States)

    Weintraub, Daniel; David, Anthony S; Evans, Andrew H; Grant, Jon E; Stacy, Mark

    2015-02-01

    Impulse control disorders (ICDs), including compulsive gambling, buying, sexual behavior, and eating, are a serious and increasingly recognized psychiatric complication in Parkinson's disease (PD). Other impulsive-compulsive behaviors (ICBs) have been described in PD, including punding (stereotyped, repetitive, purposeless behaviors) and dopamine dysregulation syndrome (DDS; compulsive PD medication overuse). ICDs have been most closely related to the use of dopamine agonists (DAs), perhaps more so at higher doses; in contrast, DDS is primarily associated with shorter-acting, higher-potency dopaminergic medications, such as apomorphine and levodopa. Possible risk factors for ICDs include male sex, younger age and younger age at PD onset, a pre-PD history of ICDs, and a personal or family history of substance abuse, bipolar disorder, or gambling problems. Given the paucity of treatment options and potentially serious consequences, it is critical for PD patients to be monitored closely for development of ICDs as part of routine clinical care.

  7. The animal models of dementia and Alzheimer's disease for pre-clinical testing and clinical translation.

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    Anand, Akshay; Banik, Avijit; Thakur, Keshav; Masters, Colin L

    2012-11-01

    Dementia is a clinical syndrome with abnormal degree of memory loss and impaired ability to recall events from the past often characterized by Alzheimer's disease. The various strategies to treat dementia need validation of novel compounds in suitable animal models for testing their safety and efficacy. These may include novel anti-amnesic drugs derived from synthetic chemistry or those derived from traditional herbal sources. Multiple approaches have been adopted to create reliable animal models ranging from rodents to non-human primates, where the animals are exposed to a predetermined injury or causing genetic ablation across specific regions of brain suspected to affect learning functions. In this review various animal models for Alzheimer's disease and treatment strategies in development of anti dementia drugs are discussed and an attempt has been made to provide a comprehensive report of the latest developments in the field.

  8. Magnetic resonance enterography in Crohn's disease: optimal use in clinical practice and clinical trials.

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    Rimola, Jordi; Panés, Julián; Ordás, Ingrid

    2015-01-01

    The purpose of this review is to provide a practical appraisal of the usefulness of magnetic resonance enterography in the management of Crohn's disease and the potential utilities that this imaging modality may have in clinical research. Also, we review some basic technical considerations that clinicians should know to understand the value and limitations of the technique. Lastly, we outline the future trends and potential contributions of new technological advances in the field of magnetic resonance imaging that can improve the classic magnetic resonance enterography technique.

  9. Overwhelming postsplenectomy infection syndrome in adults - A clinically preventable disease

    Institute of Scientific and Technical Information of China (English)

    Takehiro Okabayashi; Kazuhiro Hanazaki

    2008-01-01

    Overwhelming postsplenectomy infection (OPSI)syndrome is a rare condition, but is associated with high mortality. However, recognition and clinical management of OPSI is not well established. The prevalence of splenectomy increased recently because it was a clinically effective treatment for hepatitis C virus-associated thrombocytopenia before the introduction of the interferon/ribavirin combination therapy. We reviewed the literature characterizing the clinicopathological features of OPSI and assessed the most effective and feasible administration of the condition. A Medline search was performed using the keywords 'overwhelming','postsplenectomy infection', 'postsplenectomy sepsis','chronic liver disease', and/or 'splenectomy'. Additional articles were obtained from references within the papers identified by the Medilne search. Durations between splenectomy and onset of OPSI ranged from less than 1 wk to more than 20 years. Autopsy showed that many patients with OPSI also had Waterhouse-Friderichsen syndrome. Although the mortality rate from OPSI has been reduced by appropriate vaccination and education,the precise pathogenesis and a suitable therapeutic strategy remain to be elucidated. Protein energy malnutrition (PEM) is commonly observed in cirrhotic patients. Since the immune response in patients with PEM is compromised, a more careful management for OPSI should therefore be applied for cirrhotic patients after splenectomy. In addition, strict long-term follow up of OPST patients including informed consent will lead to a better prognosis.

  10. Clinical Applications of Mesenchymal Stem Cells in Chronic Diseases

    Directory of Open Access Journals (Sweden)

    Andrea Farini

    2014-01-01

    Full Text Available Extraordinary progress in understanding several key features of stem cells has been made in the last ten years, including definition of the niche, and identification of signals regulating mobilization and homing as well as partial understanding of the mechanisms controlling self-renewal, commitment, and differentiation. This progress produced invaluable tools for the development of rational cell therapy protocols that have yielded positive results in preclinical models of genetic and acquired diseases and, in several cases, have entered clinical experimentation with positive outcome. Adult mesenchymal stem cells (MSCs are nonhematopoietic cells with multilineage potential to differentiate into various tissues of mesodermal origin. They can be isolated from bone marrow and other tissues and have the capacity to extensively proliferate in vitro. Moreover, MSCs have also been shown to produce anti-inflammatory molecules which can modulate humoral and cellular immune responses. Considering their regenerative potential and immunoregulatory effect, MSC therapy is a promising tool in the treatment of degenerative, inflammatory, and autoimmune diseases. It is obvious that much work remains to be done to increase our knowledge of the mechanisms regulating development, homeostasis, and tissue repair and thus to provide new tools to implement the efficacy of cell therapy trials.

  11. GAGs and GAGs diseases: when pathophysiology supports the clinic.

    Science.gov (United States)

    Costantini, Elisabetta; Lazzeri, Massimo; Porena, Massimo

    2013-01-01

    The urinary epithelium has been the subject of considerable interest and much research in recent years. What has radically changed in the last decade is the concept of what the bladder epithelium really is. It is currently no longer considered just a simple barrier and a non-specific defence against infections, and it has been recognized as a specialized tissue regulating complex bladder functions and playing a fundamental and active role in the pathogenesis of cystitis. Researchers have been focussing on the receptors and mediators that are active in the sub-epithelial layer, with the hope that understanding the role of the urothelium defect will offer the opportunity for new therapeutic strategies. On the surface of the urothelial umbrella-cells there is a thick layer of glycoproteins and proteoglycans, which together are called Glycosaminoglycans (GAGs). They constitute a hydrophilic mucosal coating and act as a barrier against solutes found in urine. In recent years they have received special attention because injury to Gags, due to different noxae, has been identified as the first step in the genesis of chronic inflammatory bladder diseases, such as recurrent urinary tract infections, chemical or radiation cystitis, interstitial cystitis and/or Bladder Pain Syndrome. Aim of this study is to define the importance of the urothelium starting from the anatomy and physiology of the bladder wall. Furthermore, we will underline the role of glycosaminoglycans, focusing both on their pathophysiological role in the principal bladder diseases and on the therapeutic aspects from the clinical point of view.

  12. Potential and clinical utility of stem cells in cardiovascular disease

    Directory of Open Access Journals (Sweden)

    Korff Krause

    2010-03-01

    Full Text Available Korff Krause, Carsten Schneider, Kai Jaquet, Karl-Heinz KuckHanseatic Heart Center Hamburg, Department of Cardiology, Asklepios Hospital St. Georg, Hamburg, GermanyAbstract: The recent identification of bone marrow-derived adult stem cells and other types of stem cells that could improve heart function after transplantation have raised high expectations. The basic mechanisms have been studied mostly in murine models. However, these experiments revealed controversial results on transdifferentiation vs transfusion of adult stem cells vs paracrine effects of these cells, which is still being debated. Moreover, the reproducibility of these results in precisely translated large animal models is still less well investigated. Despite these weaknesses results of several clinical trials including several hundreds of patients with ischemic heart disease have been published. However, there are no solid data showing that any of these approaches can regenerate human myocardium. Even the effectiveness of cell therapy in these approaches is doubtful. In future we need in this important field of regenerative medicine: i more experimental data in large animals that are closer to the anatomy and physiology of humans, including data on dose effects, comparison of different cell types and different delivery routes; ii a better understanding of the molecular mechanisms involved in the fate of transplanted cells; iii more intensive research on genuine regenerative medicine, applying genetic regulation and cell engineering.Keywords: stem cells, cardiovascular disease

  13. Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease.

    Science.gov (United States)

    Zyss, Julie; Béhin, Anthony; Couvert, Philippe; Bouhour, Françoise; Sassolas, Agnès; Kolev, Ivan; Denys, Violaine; Vial, Christophe; Lacour, A; Carrié, Alain; Stojkovic, Tanya

    2012-06-01

    Tangier disease (TD) (OMIM#205400) is a rare autosomal recessive disorder resulting from mutations in the ABCA1 gene, leading to decreased levels of plasma high-density lipoproteins (HDL). Peripheral neuropathy is a common finding in this disease, and may present as relapsing/remitting mono/polyneuropathies or as syringomyelia-like neuropathy. We retrospectively analyzed four patients, and report here their clinical, biological, electrophysiological, imaging, and genetic findings. Three patients had a typical pseudosyringomyelic neuropathy including facial diplegia, but asymmetrical onset was observed in one patient who had first been misdiagnosed with Lewis-Sumner syndrome. Electrophysiological pattern was heterogeneous, showing both signs of demyelination and axonal degeneration. Truncating mutations of the ABCA1 gene, including two previously undescribed mutations, were constantly found. Atypical symptom onset and demyelinating features on electrophysiological examination can be misleading in case of pseudosyringomyelic neuropathy. These reports illustrate two different neurological phenotypes in TD, namely the pseudosyringomyelic type and the Lewis-Sumner-like type, and advocate for a systematic assessment of lipid profile including HDL cholesterol in demyelinating neuropathies.

  14. Clinical disease presentation and ECG characteristics of LMNA mutation carriers

    Science.gov (United States)

    Ollila, Laura; Nikus, Kjell; Holmström, Miia; Jalanko, Mikko; Jurkko, Raija; Kaartinen, Maija; Koskenvuo, Juha; Kuusisto, Johanna; Kärkkäinen, Satu; Palojoki, Eeva; Reissell, Eeva; Piirilä, Päivi; Heliö, Tiina

    2017-01-01

    Objective Mutations in the LMNA gene encoding lamins A and C of the nuclear lamina are a frequent cause of cardiomyopathy accounting for 5–8% of familial dilated cardiomyopathy (DCM). Our aim was to study disease onset, presentation and progression among LMNA mutation carriers. Methods Clinical follow-up data from 27 LMNA mutation carriers and 78 patients with idiopathic DCM without an LMNA mutation were collected. In addition, ECG data were collected and analysed systematically from 20 healthy controls. Results Kaplan-Meier analysis revealed no difference in event-free survival (death, heart transplant, resuscitation and appropriate implantable cardioverter-defibrillator therapy included as events) between LMNA mutation carriers and DCM controls (p=0.5). LMNA mutation carriers presented with atrial fibrillation at a younger age than the DCM controls (47 vs 57 years, p=0.003). Male LMNA mutation carriers presented with clinical manifestations roughly a decade earlier than females. In close follow-up non-sustained ventricular tachycardia was detected in 78% of LMNA mutation carriers. ECG signs of septal remodelling were present in 81% of the LMNA mutation carriers, 21% of the DCM controls and none of the healthy controls giving a high sensitivity and specificity for the standard ECG in distinguishing LMNA mutation carriers from patients with DCM and healthy controls. Conclusions Male LMNA mutation carriers present clinical manifestations at a younger age than females. ECG septal remodelling appears to distinguish LMNA mutation carriers from healthy controls and patients with DCM without LMNA mutations. PMID:28123761

  15. Rationale and clinical data supporting nutritional intervention in Alzheimer's disease.

    Science.gov (United States)

    Engelborghs, S; Gilles, C; Ivanoiu, A; Vandewoude, M

    2014-01-01

    Adequate nutrition plays an important role in the maintenance of cognitive function, particularly during aging. Malnutrition is amongst the risk factors for developing mild cognitive impairment (MCI) and Alzheimer's disease (AD). Epidemiological studies have associated deficiencies in some nutrients with a higher risk of cognitive dysfunction and/or AD. Cognitive decline in AD is correlated with synaptic loss and many of the components required to maintain optimal synaptic function are derived from dietary sources. As synapses are part of the neuronal membrane and are continuously being remodelled, the availability of sufficient levels of nutritional precursors (mainly uridine monophosphate, choline and omega-3 fatty acids) to make the phospholipids required to build neuronal membranes may have beneficial effects on synaptic degeneration in AD. In addition, B-vitamins, phospholipids and other micronutrients act as cofactors to enhance the supply of precursors required to make neuronal membranes and synapses. Despite this, no randomized controlled trial has hitherto provided evidence that any single nutrient has a beneficial effect on cognition or lowers the risk for AD. However, a multi-target approach using combinations of (micro)nutrients might have beneficial effects on cognitive function in neurodegenerative brain disorders like AD leading to synaptic degeneration. Here we review the clinical evidence for supplementation, based on a multi-target approach with a focus on key nutrients with a proposed role in synaptic dysfunction. Based on preclinical evidence, a nutrient mixture, Souvenaid(®) (Nutricia N.V., Zoetermeer, The Netherlands) was developed. Clinical trials with Souvenaid(®) have shown improved memory performance in patients with mild AD. Further clinical trials to evaluate the effects of nutritional intervention in MCI and early dementia due to AD are on-going.

  16. Improving treatment of depression in the elderly: two innovations in statistical design of clinical trials.

    Science.gov (United States)

    Lavori, Philip W

    2005-08-01

    Depression in the elderly patient may present special challenges for the design of clinical treatment trials due to a complex antidepressant treatment history, individual contraindications to certain medications, medical comorbidity, as well as concurrent medications for other medical conditions. The chronic, relapsing, and remitting nature of depression calls for a dynamic, adaptive treatment strategy, matching treatment changes to patient responses. To market a drug successfully in a cost-conscious environment, it also may be necessary to define the unique contribution that a new drug makes to the treatment of patients, in addition to proving that it is efficacious (by comparison to placebo). These issues, although not unique to the elderly, take on greater importance and weight as patient populations age. This article describes 2 innovations in clinical trials design that may help deal with these issues.

  17. Clinical Holistic Medicine: The Patient with Multiple Diseases

    Directory of Open Access Journals (Sweden)

    Søren Ventegodt

    2005-01-01

    Full Text Available In clinical practice, patients can present with many different diseases, often both somatic and mental. Holistic medicine will try to see the diseases as a whole, as symptoms of a more fundamental imbalance in the state of being. The holistic physician must help the patient to recover existence and a good relationship with self. According to the life mission theory, theory of character, and holistic process theory of healing, recovering the purpose of life (the life mission is essential for the patient to regain life, love, and trust in order to find happiness and realize the true purpose of life. We illustrate the power of the holistic medical approach with a case study of an invalidated female artist, aged 42 years, who suffered from multiple severe health problems, many of which had been chronic for years. She had a combination of neurological disturbances (tinnitus, migraine, minor hallucinations, immunological disturbances (recurrent herpes simplex, phlegm in the throat, fungal infection in the crotch, hormonal disturbances (14 days of menstruation in each cycle, muscle disturbances (neck tensions, mental disturbances (tendency to cry, inferiority feeling, mild depression, desolation, anxiety, abdominal complaints, hemorrhoids, and more. The treatment was a combined strategy of improving the general quality of life, recovering her human character and purpose of life (“renewing the patients life energy”, “balancing her global information system”, and processing the local blockages, thus healing most of her many different diseases in a treatment using 30 h of intense holistic therapy over a period of 18 months.

  18. Statistical design and analysis of label-free LC-MS proteomic experiments: a case study of coronary artery disease.

    Science.gov (United States)

    Clough, Timothy; Braun, Siegmund; Fokin, Vladimir; Ott, Ilka; Ragg, Susanne; Schadow, Gunther; Vitek, Olga

    2011-01-01

    This chapter presents a case study, which applies statistical design and analysis to an LC-MS-based -investigation of subjects with coronary artery disease. First, we discuss the principles of statistical -experimental design, and the specification of an Analysis of Variance (ANOVA) model that describes the major sources of variation in the data. Second, we discuss procedures for detecting differentially abundant proteins, estimating protein abundance in individual samples, testing predefined groups of proteins for enrichment in differential abundance, and calculating sample size for a future experiment. The discussion is accompanied by examples of computer code implemented in the open-source statistical software R, which can be followed for an independent implementation of a similar investigation.

  19. Statistical Colocalization of Genetic Risk Variants for Related Autoimmune Diseases in the Context of Common Controls

    Science.gov (United States)

    Fortune, Mary D.; Guo, Hui; Burren, Oliver; Schofield, Ellen; Walker, Neil M.; Ban, Maria; Sawcer, Stephen J.; Bowes, John; Worthington, Jane; Barton, Ann; Eyre, Steve; Todd, John A.; Wallace, Chris

    2015-01-01

    Identifying whether potential causal variants for related diseases are shared can identify overlapping etiologies of multifactorial disorders. Colocalization methods disentangle shared and distinct causal variants. However, existing approaches require independent datasets. Here we extend two colocalization methods to allow for the shared control design commonly used in comparison of genome-wide association study results across diseases. Our analysis of four autoimmune diseases, type 1 diabetes (T1D), rheumatoid arthritis, celiac disease and multiple sclerosis, revealed 90 regions that were associated with at least one disease, 33 (37%) of which with two or more disorders. Nevertheless, for 14 of these 33 shared regions there was evidence that causal variants differed. We identified novel disease associations in 11 regions previously associated with one or more of the other three disorders. Four of eight T1D-specific regions contained known type 2 diabetes candidate genes: COBL, GLIS3, RNLS and BCAR1, suggesting a shared cellular etiology. PMID:26053495

  20. Chronic lymphocytic leukemia: a clinical and molecular heterogenous disease.

    Science.gov (United States)

    Rodríguez-Vicente, Ana E; Díaz, Marcos González; Hernández-Rivas, Jesús M

    2013-03-01

    The clinical heterogeneity that characterizes chronic lymphocytic leukemia (CLL), with survival times ranging from months to decades, reflects its biological diversity. Our understanding of the biology of CLL has helped us identify several markers of prognostic significance, by which CLL can be differentiated into several distinct diseases. The presence of specific chromosomal abnormalities is a prognostic indicator of disease progression and survival. Conventional cytogenetic analyses have revealed chromosomal aberrations in 40-50% of patients, but the detection of abnormalities is limited by the low mitotic activity of CLL cells. Metaphase analysis has recently undergone a "revival" because the metaphase yield has been improved by stimulation of CLL cells with alternative methods. Fluorescence in situ hybridization identifies chromosomal changes in approximately 80% of patients with CLL, and comparative genomic hybridization using high-density arrays (i.e., array comparative genomic hybridization [aCGH]) enables high-resolution genome-wide scanning for detecting copy number alterations in a single hybridization. The mutational status of the immunoglobulin heavy chain variable (IGHV) genes identifies two subsets of CLL with different outcomes. Unfortunately, the determination of IGHV mutation status may not be practical in all laboratories, and for this reason characteristics that are correlated with IGHV mutation status are needed-zeta-chain associated (TCR) protein kinase 70 kDa (ZAP-70) being that most commonly used currently in routine clinical practice. Whole genome sequencing has offered new insights into the mutational status of the disease, highlighting the role of several genes previously unrelated to CLL. Of these, NOTCH1 and SF3B1 are the most frequently mutated genes that predict poor prognosis. MicroRNA alterations are also involved in the initiation and progression of CLL, and the expression levels of some microRNAs correlate with previously

  1. Cancer Statistics

    Science.gov (United States)

    ... Resources Conducting Clinical Trials Statistical Tools and Data Terminology Resources NCI Data Catalog Cryo-EM NCI's Role ... Contacts Other Funding Find NCI funding for small business innovation, technology transfer, and contracts Training Cancer Training ...

  2. A STUDY OF CLINICAL PROFILE OF ISCHEMIC HEART DISEASE AMONG SOUTH INDIAN WOMEN IN A TERTIARY CARE CENTRE

    Directory of Open Access Journals (Sweden)

    Lokesh

    2015-05-01

    Full Text Available INTRODUCTION : Our study was done to study in detail the clinical profile of cases admitted with ischemic heart diseases in women at ICCU VIMS Bellary . Objectives : are. (1 To study the clinical profile of ischemic heart diseases in women. ( 2 To identify the influence of well - defined risk factors in wome n with ischemic heart diseases. (3 To identify if there are any risk factors specific to wom en with ischemic heart diseases. MATERIAL AND METHODS : Ours is a clinical , prospective , observational and open study. The study subjects were women admitted in Intensive Coronary Care Unit of Vijayanagara institute of medical sciences hospital , Bellary with signs and symptoms suggestive of ischemic heart diseases. After obtaining a detailed history and clinical examinati on the patients were subjected to relevant investigations. The complete data was collected in specially designed case recording form and transferred into a Master chart which is then subjected to statistical analysis. RESULTS AND DISCUSSION : We studied 100 cases of ischemic heart diseases in women , out of which 82 patients presented with Acute MI , 14 patients with Unstable angina and 4 patients with stable angina , most of which were observed in post - menopausal women. Prognosis was good in patients who recei ved intensive care within 6 hours of onset of symptoms. Chest pain was the most common symptom of presentation. CONCLUSION : Our study had highlighted the fact that ischemic heart disease no longer remains gender neutral and has been found to be a principle killer in women and they suffer from IHD on account of preventable diseases like hypertension , diabetes mellitus , obesity. KEYWORDS : Ischemic heart disease ; Hypertension ; Acute MI ; Unstable angina.

  3. Unlocking Data for Statistical Analyses and Data Mining: Generic Case Extraction of Clinical Items from i2b2 and tranSMART.

    Science.gov (United States)

    Firnkorn, Daniel; Merker, Sebastian; Ganzinger, Matthias; Muley, Thomas; Knaup, Petra

    2016-01-01

    In medical science, modern IT concepts are increasingly important to gather new findings out of complex diseases. Data Warehouses (DWH) as central data repository systems play a key role by providing standardized, high-quality and secure medical data for effective analyses. However, DWHs in medicine must fulfil various requirements concerning data privacy and the ability to describe the complexity of (rare) disease phenomena. Here, i2b2 and tranSMART are free alternatives representing DWH solutions especially developed for medical informatics purposes. But different functionalities are not yet provided in a sufficient way. In fact, data import and export is still a major problem because of the diversity of schemas, parameter definitions and data quality which are described variously in each single clinic. Further, statistical analyses inside i2b2 and tranSMART are possible, but restricted to the implemented functions. Thus, data export is needed to provide a data basis which can be directly included within statistics software like SPSS and SAS or data mining tools like Weka and RapidMiner. The standard export tools of i2b2 and tranSMART are more or less creating a database dump of key-value pairs which cannot be used immediately by the mentioned tools. They need an instance-based or a case-based representation of each patient. To overcome this lack, we developed a concept called Generic Case Extractor (GCE) which pivots the key-value pairs of each clinical fact into a row-oriented format for each patient sufficient to enable analyses in a broader context. Therefore, complex pivotisation routines where necessary to ensure temporal consistency especially in terms of different data sets and the occurrence of identical but repeated parameters like follow-up data. GCE is embedded inside a comprehensive software platform for systems medicine.

  4. Military Relevant Infectious Diseases Endemic to Kenya: Vaccine and Clinical Trials and Entomology

    Science.gov (United States)

    2014-04-01

    Diseases Endemic to Kenya: Vaccine and Clinical Trials and Entomology PRINCIPAL INVESTIGATOR: Professor Solomon Mpoke RECIPIENT...NUMBER W81XWH-07-2-0065 Military Relevant Infectious Diseases Endemic to Kenya: Vaccine and Clinical Trials and Entomology 5b. GRANT NUMBER...civilians to regions of the world where these diseases are endemic. Research was undertaken in malaria, HIV/AIDS, entomology , enterics

  5. Clinical trials of a matrix metalloproteinase inhibitor in human periodontal disease. SDD Clinical Research Team.

    Science.gov (United States)

    Ashley, R A

    1999-06-30

    After demonstration by Golub et al. of the ability of the tetracyclines to inhibit elevated collagenolytic activity in animal models of periodontal diseases, a clinical development program was initiated to demonstrate the potential of a subantimicrobial dose of doxycycline (SDD) to augment and maintain the improvements in clinical parameters of adult periodontitis (AP) afforded by conventional nonsurgical periodontal therapy. Clinical trials were carried out in which a number of different SDD dosing regimens and placebo were compared in patients administered a variety of adjunctive nonsurgical therapies. Measured parameters included levels of collagenase activity in gingival crevicular fluid (GCF) and gingival specimens, clinical attachment levels (cALv), probing pocket depths (PD), bleeding on probing (BOP), and subtraction radiographic measurements of alveolar bone height. When used as an adjunct to either scaling and root planing or supragingival scaling and dental prophylaxis, SDD was shown to reduce collagenase levels in both GCF and gingival biopsies, to augment and maintain cALv gains and PD reductions, to reduce BOP, and to prevent loss of alveolar bone height. These clinical responses arose in the absence of any significant effects on the subgingival microflora and without evidence of an increase in the incidence or severity of adverse reactions relative to the control groups. It is proposed that one of the mechanisms of action of SDD is as an inhibitor of pathologically elevated MMPs, including neutrophil and bone cell collagenases (MMP-8 and MMP-13), which are associated with the host response in chronic AP, and that SDD provides a novel systemic approach to the management of AP.

  6. Clinical value of nutritional status in neurodegenerative diseases: What is its impact and how it affects disease progression and management?

    Science.gov (United States)

    Tsagalioti, Eftyhia; Trifonos, Christina; Morari, Aggeliki; Vadikolias, Konstantinos; Giaginis, Constantinos

    2016-11-30

    Neurodegenerative diseases constitute a major problem of public health that is associated with an increased risk of mortality and poor quality of life. Malnutrition is considered as a major problem that worsens the prognosis of patients suffering from neurodegenerative diseases. In this aspect, the present review is aimed to critically collect and summarize all the available existing clinical data regarding the clinical impact of nutritional assessment in neurodegenerative diseases, highlighting on the crucial role of nutritional status in disease progression and management. According to the currently available clinical data, the nutritional status of patients seems to play a very important role in the development and progression of neurodegenerative diseases. A correct nutritional evaluation of neurodegenerative disease patients and a right nutrition intervention is essential in monitoring their disease.

  7. Graphospasm - clinical presentation, etiology and the course of disease: Analysis of 30 cases

    Directory of Open Access Journals (Sweden)

    Kačar Aleksandra

    2004-01-01

    Full Text Available INTRODUCTION Dystonia, as prolonged, involuntary muscle contraction, causes torsion, repetitive movements and abnormal body position. In so far only a part of body is affected by dystonic movement, it is the question of focal dystonia, which is called writer's cramp if the arm is involved. OBJECTIVE The objective of the study was to present the specific clinical features of patients with task-specific dystonia, who were diagnosed, treated and followed up at the Institute of Neurology, Clinical Center of Serbia, Belgrade. MATERIAL AND METHODS In the period 1995-2003, 30 patients with task-specific dystonia were treated at the Institute of Neurology, CCS, who met the adopted criteria for diagnosis. The severity of the diseases was tested by estimating the ability of patient to write the test sentence per time unit, as well as by means of scale for measuring different disabilities, ranging from 0-16 (Marsden-Fahn. Depression, anxiety and obsessiveness were tested by Beck's scale, Hamilton's depression and anxiety scale and Mousdly's obsessiveness scale. Thorough questionnaire focused on clinical details was also used. Besides descriptive statistics, data processing included analysis of variance and Kruskal-Wallis's test. RESULTS Thirty patients with diagnosis of task-specific dystonia were analyzed. At the onset of the disease, mean-age was 34.1 years (SD=11.4; 13-58, while the duration of disease at the moment of the examination was 10.3 years (SD=10.6; 1-39. There were 20 males and 10 females (sex ratio 2:1. None of the patients reported any history of trauma of subsequently affected region before the development of discomforts. Twelve patients used their hands for a long time during their professions (writing, playing the instrument, type-writing, etc.. Eight patients were typists (26.6%, four were musicians (13.3%, while the rest of cases (18 had some other occupations that did not necessarily imply long-term use of hands (office worker

  8. [Clinical associations between retinal vascular diseases and cardiovascular diseases in patients with systemic atheromatosis].

    Science.gov (United States)

    Stefănescu-Dima, Alin; Bătăiosu, Constantin; Sas, Teodor; Puianu, Mihaela

    2013-01-01

    A clinical study was conducted on a sample of 48 patients examined within 3 months. Of these, 27 patients were recruited by ophtalmologic criteria and 21 recruited by cardiologic criteria, 25% of these patients coming for routine check. They were investigated by ophthalmic examination, cardiological examination, imaging and laboratory examination. Testing has shown a strong link between cardiovascular disease and the eye of the patients investigated. The study demonstrated the need for interdisciplinary consultation for patients with vascular complaints in the carotid territory and a close correlation between the vascular and ophthalmologic pathology at this level.

  9. Conceptual Model of Clinical Governance Information System for Statistical Indicators by Using UML in Two Sample Hospitals

    Science.gov (United States)

    Jeddi, Fatemeh Rangraz; Farzandipoor, Mehrdad; Arabfard, Masoud; Hosseini, Azam Haj Mohammad

    2016-01-01

    Objective: The purpose of this study was investigating situation and presenting a conceptual model for clinical governance information system by using UML in two sample hospitals. Background: However, use of information is one of the fundamental components of clinical governance; but unfortunately, it does not pay much attention to information management. Material and Methods: A cross sectional study was conducted in October 2012- May 2013. Data were gathered through questionnaires and interviews in two sample hospitals. Face and content validity of the questionnaire has been confirmed by experts. Data were collected from a pilot hospital and reforms were carried out and Final questionnaire was prepared. Data were analyzed by descriptive statistics and SPSS 16 software. Results: With the scenario derived from questionnaires, UML diagrams are presented by using Rational Rose 7 software. The results showed that 32.14 percent Indicators of the hospitals were calculated. Database was not designed and 100 percent of the hospital’s clinical governance was required to create a database. Conclusion: Clinical governance unit of hospitals to perform its mission, do not have access to all the needed indicators. Defining of Processes and drawing of models and creating of database are essential for designing of information systems. PMID:27147804

  10. Statistical applications in nutrigenomics : analyzing multiple genes and proteins in relation to complex diseases in humans

    NARCIS (Netherlands)

    Heidema, A.G.

    2008-01-01

    Background The recent advances in technology provide the possibility to obtain large genomic datasets that contain information on large numbers of variables, while the sample sizes are moderate to small. This has lead to statistical challenges in the analysis of multiple genes and proteins in relat

  11. Vascular disease in women: comparison of diagnoses in hospital episode statistics and general practice records in England

    Directory of Open Access Journals (Sweden)

    Wright F

    2012-10-01

    Full Text Available Abstract Background Electronic linkage to routine administrative datasets, such as the Hospital Episode Statistics (HES in England, is increasingly used in medical research. Relatively little is known about the reliability of HES diagnostic information for epidemiological studies. In the United Kingdom (UK, general practitioners hold comprehensive records for individuals relating to their primary, secondary and tertiary care. For a random sample of participants in a large UK cohort, we compared vascular disease diagnoses in HES and general practice records to assess agreement between the two sources. Methods Million Women Study participants with a HES record of hospital admission with vascular disease (ischaemic heart disease [ICD-10 codes I20-I25], cerebrovascular disease [G45, I60-I69] or venous thromboembolism [I26, I80-I82] between April 1st 1997 and March 31st 2005 were identified. In each broad diagnostic group and in women with no such HES diagnoses, a random sample of about a thousand women was selected for study. We asked each woman’s general practitioner to provide information on her history of vascular disease and this information was compared with the HES diagnosis record. Results Over 90% of study forms sent to general practitioners were returned and 88% of these contained analysable data. For the vast majority of study participants for whom information was available, diagnostic information from general practice and HES records was consistent. Overall, for 93% of women with a HES diagnosis of vascular disease, general practice records agreed with the HES diagnosis; and for 97% of women with no HES diagnosis of vascular disease, the general practitioner had no record of a diagnosis of vascular disease. For severe vascular disease, including myocardial infarction (I21-22, stroke, both overall (I60-64 and by subtype, and pulmonary embolism (I26, HES records appeared to be both reliable and complete. Conclusion Hospital admission data

  12. Performing meta-analysis with incomplete statistical information in clinical trials

    Directory of Open Access Journals (Sweden)

    Hunter Anthony

    2008-08-01

    Full Text Available Abstract Background Results from clinical trials are usually summarized in the form of sampling distributions. When full information (mean, SEM about these distributions is given, performing meta-analysis is straightforward. However, when some of the sampling distributions only have mean values, a challenging issue is to decide how to use such distributions in meta-analysis. Currently, the most common approaches are either ignoring such trials or for each trial with a missing SEM, finding a similar trial and taking its SEM value as the missing SEM. Both approaches have drawbacks. As an alternative, this paper develops and tests two new methods, the first being the prognostic method and the second being the interval method, to estimate any missing SEMs from a set of sampling distributions with full information. A merging method is also proposed to handle clinical trials with partial information to simulate meta-analysis. Methods Both of our methods use the assumption that the samples for which the sampling distributions will be merged are randomly selected from the same population. In the prognostic method, we predict the missing SEMs from the given SEMs. In the interval method, we define intervals that we believe will contain the missing SEMs and then we use these intervals in the merging process. Results Two sets of clinical trials are used to verify our methods. One family of trials is on comparing different drugs for reduction of low density lipprotein cholesterol (LDL for Type-2 diabetes, and the other is about the effectiveness of drugs for lowering intraocular pressure (IOP. Both methods are shown to be useful for approximating the conventional meta-analysis including trials with incomplete information. For example, the meta-analysis result of Latanoprost versus Timolol on IOP reduction for six months provided in 1 was 5.05 ± 1.15 (Mean ± SEM with full information. If the last trial in this study is assumed to be with partial information

  13. Variability of CSF Alzheimer's disease biomarkers: implications for clinical practice.

    Directory of Open Access Journals (Sweden)

    Stephanie J B Vos

    Full Text Available BACKGROUND: Cerebrospinal fluid (CSF biomarkers are increasingly being used for diagnosis of Alzheimer's disease (AD. OBJECTIVE: We investigated the influence of CSF intralaboratory and interlaboratory variability on diagnostic CSF-based AD classification of subjects and identified causes of this variation. METHODS: We measured CSF amyloid-β (Aβ 1-42, total tau (t-tau, and phosphorylated tau (p-tau by INNOTEST enzyme-linked-immunosorbent assays (ELISA in a memory clinic population (n = 126. Samples were measured twice in a single or two laboratories that served as reference labs for CSF analyses in the Netherlands. Predefined cut-offs were used to classify CSF biomarkers as normal or abnormal/AD pattern. RESULTS: CSF intralaboratory variability was higher for Aβ1-42 than for t-tau and p-tau. Reanalysis led to a change in biomarker classification (normal vs. abnormal of 26% of the subjects based on Aβ1-42, 10% based on t-tau, and 29% based on p-tau. The changes in absolute biomarker concentrations were paralleled by a similar change in levels of internal control samples between different assay lots. CSF interlaboratory variability was higher for p-tau than for Aβ1-42 and t-tau, and reanalysis led to a change in biomarker classification of 12% of the subjects based on Aβ1-42, 1% based on t-tau, and 22% based on p-tau. CONCLUSIONS: Intralaboratory and interlaboratory CSF variability frequently led to change in diagnostic CSF-based AD classification for Aβ1-42 and p-tau. Lot-to-lot variation was a major cause of intralaboratory variability. This will have implications for the use of these biomarkers in clinical practice.

  14. Dermatoses in the first 72 h of life: A clinical and statistical survey

    Directory of Open Access Journals (Sweden)

    Vanessa Zagne

    2011-01-01

    Full Text Available Background: The neonatal period is generally regarded as the first 28 days of extrauterine life. Skin disorders are commonly seen in the neonatal period, most of which are transient and limited to the first days or weeks of life. In spite of being so frequent, these transient conditions usually escape dermatologist′s observations, and consequently few have been studied. Aims: The study was designed to identify the dermatoses in the first 72 h of life; to report the relationship among the most common dermatoses with the newborn′s features; and to verify how often dermatoses are reported by the neonatologist. Methods: The authors carried out a cross-sectional study on newborn′s dermatoses in a brazilian public hospital, including 203 healthy neonates, until 72 h of age, with skin disorders. Results: Out of 34 different skin diagnosed conditions, hypertrichosis lanuginosa, Mongolian spot, sebaceous hyperplasia, epidermal hyperpigmentation, erythema toxicum, and salmon patch were the most frequent ones. The dermatoses with statistical significance were: Mongolian spot and epidermal hyperpigmentation with the non-white newborns; erythema toxicum and cutis marmorata with the white newborns; salmon patch with the female sex; physiologic desquamation with the cesarean section; acrocyanosis with the first pregnancy birth and Bohn′s nodules with the vaginal delivery. Conclusions: Thirty-four different types of dermatological alterations were identified in the healthy newborn within 3 days of life at the Maternity School of the Federal University of Rio de Janeiro. Underreporting of dermatoses with serious medical significance shows the importance of a dermatologist in the neonatal unit of a hospital.

  15. Moyamoya disease and syndromes: from genetics to clinical management

    Directory of Open Access Journals (Sweden)

    Guey S

    2015-02-01

    Full Text Available Stéphanie Guey,1,3 Elisabeth Tournier-Lasserve,1,2 Dominique Hervé,1,3 Manoelle Kossorotoff4 1Inserm UMR-S1161, Université Paris 7 Denis Diderot, Sorbonne Paris Cité, Paris, France; 2AP-HP, Groupe hospitalier Lariboisière-Saint-Louis, Service de génétique neurovasculaire, Paris, France; 3Service de Neurologie, Centre de Référence des maladies Vasculaires Rares du Cerveau et de l'Œil (CERVCO, Groupe Hospitalier Saint-Louis Lariboisière-Fernand Widal, Assistance Publique-Hôpitaux de Paris, Paris, France; 4Pediatric Neurology Department, French Center for Pediatric Stroke, University Hospital Necker-Enfants Malades, AP-HP Assistance publique-Hôpitaux de Paris, Paris, France Abstract: Moyamoya angiopathy is characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of a network of abnormal collateral vessels. This chronic cerebral angiopathy is observed in children and adults. It mainly leads to brain ischemic events in children, and to ischemic and hemorrhagic events in adults. This is a rare condition, with a marked prevalence gradient between Asian countries and Western countries. Two main nosological entities are identified. On the one hand, moyamoya disease corresponds to isolated moyamoya angiopathy, defined as being “idiopathic” according to the Guidelines of the Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis. This entity is probably multifactorial and polygenic in most patients. On the other hand, moyamoya syndrome is a moyamoya angiopathy associated with an underlying condition and forms a very heterogeneous group with various clinical presentations, various modes of inheritance, and a variable penetrance of the cerebrovascular phenotype. Diagnostic and evaluation techniques rely on magnetic resonance imaging (MRI, magnetic resonance angiography (MRA conventional angiography, and cerebral hemodynamics measurements

  16. The Infectious Diseases Society of America emerging infections network: bridging the gap between clinical infectious diseases and public health.

    Science.gov (United States)

    Pillai, Satish K; Beekmann, Susan E; Santibanez, Scott; Polgreen, Philip M

    2014-04-01

    In 1995, the Centers for Disease Control and Prevention granted a Cooperative Agreement Program award to the Infectious Diseases Society of America to develop a provider-based emerging infections sentinel network, the Emerging Infections Network (EIN). Over the past 17 years, the EIN has evolved into a flexible, nationwide network with membership representing a broad cross-section of infectious disease physicians. The EIN has an active electronic mail conference (listserv) that facilitates communication among infectious disease providers and the public health community, and also sends members periodic queries (short surveys on infectious disease topics) that have addressed numerous topics relevant to both clinical infectious diseases and public health practice. The article reviews how the various functions of EIN contribute to clinical care and public health, identifies opportunities to further link clinical medicine and public health, and describes future directions for the EIN.

  17. The benefit of combining clinical and radiological assessments in diagnosis of inherited muscle diseases

    OpenAIRE

    Ahmed Wafaie; Ahmed Aboumousa

    2014-01-01

    Purpose: To study the benefit of combining clinical and radiological assessments in the diagnosis of inherited muscle diseases. Subjects and methods: This cross sectional study included 45 patients presenting with manifestations of muscle disease. They were subjected to thorough clinical assessment and MRI examination of thigh and leg muscles. Independent clinical and radiological assessments were performed followed by combining the clinical categorization and radiological signs together t...

  18. Short sleep is a questionable risk factor for obesity and related disorders: statistical versus clinical significance.

    Science.gov (United States)

    Horne, Jim

    2008-03-01

    Habitually insufficient sleep could contribute towards obesity, metabolic syndrome, etc., via sleepiness-related inactivity and excess energy intake; more controversially, through more direct physiological changes. Epidemiological studies in adult/children point to small clinical risk only in very short (around 5h in adults), or long sleepers, developing over many years, involving hundreds of hours of 'too little' or 'too much' sleep. Although acute 4h/day sleep restriction leads to glucose intolerance and incipient metabolic syndrome, this is too little sleep and cannot be sustained beyond a few days. Few obese adults/children are short sleepers, and few short sleeping adults/children are obese or suffer obesity-related disorders. For adults, about 7h uninterrupted daily sleep is 'healthy'. Extending sleep, even with hypnotics, to lose weight, may take years, compared with the rapidity of utilising extra sleep time to exercise and evaluate one's diet. The real health risk of inadequate sleep comes from a sleepiness-related accident.

  19. Corticosteroids in chronic obstructive pulmonary disease. Clinical benefits and risks.

    Science.gov (United States)

    McEvoy, C E; Niewoehner, D E

    2000-12-01

    The use of systemic and inhaled corticosteroids for COPD has increased appreciably over the past 20 years. Clearer indications for corticosteroid therapy in COPD are beginning to emerge as the results from large clinical trials become available. Systemic corticosteroids are only modestly effective for acute COPD exacerbations, increase the risk for hyperglycemia, and should be given for no more than 2 weeks. The efficacy of long-term systemic corticosteroid therapy has not been adequately evaluated in this patient population. If longer term use of systemic steroids in COPD should be found to be useful, this conclusion would have to be weighed against the risk for serious adverse effects. High doses of inhaled corticosteroids cause a small sustained increase of the FEV1 in patients with mild and moderately severe COPD, but they do not slow the rate of FEV1 decline. Based on analyses of secondary outcome, inhaled corticosteroids may improve the respiratory symptoms and decrease the number and severity of COPD exacerbations in patients with more advanced disease. Low doses of inhaled corticosteroids appear to be safe, but there is growing awareness that higher doses may not be so benign.

  20. Neurostimulation in Alzheimer's disease: from basic research to clinical applications.

    Science.gov (United States)

    Nardone, Raffaele; Höller, Yvonne; Tezzon, Frediano; Christova, Monica; Schwenker, Kerstin; Golaszewski, Stefan; Trinka, Eugen; Brigo, Francesco

    2015-05-01

    The development of different methods of brain stimulation provides a promising therapeutic tool with potentially beneficial effects on subjects with impaired cognitive functions. We performed a systematic review of the studies published in the field of neurostimulation in Alzheimer's disease (AD), from basic research to clinical applications. The main methods of non-invasive brain stimulation are repetitive transcranial magnetic stimulation and transcranial direct current stimulation. Preliminary findings have suggested that both techniques can enhance performances on several cognitive functions impaired in AD. Another non-invasive emerging neuromodulatory approach, the transcranial electromagnetic treatment, was found to reverse cognitive impairment in AD transgenic mice and even improves cognitive performance in normal mice. Experimental studies suggest that high-frequency electromagnetic fields may be critically important in AD prevention and treatment through their action at mitochondrial level. Finally, the application of a widely known invasive technique, the deep brain stimulation (DBS), has increasingly been considered as a therapeutic option also for patients with AD; it has been demonstrated that DBS of fornix/hypothalamus and nucleus basalis of Meynert might improve or at least stabilize cognitive functioning in AD. Initial encouraging results provide support for continuing to investigate non-invasive and invasive brain stimulation approaches as an adjuvant treatment for AD patients.

  1. Prevalence and clinical picture of celiac disease in Turner syndrome.

    Science.gov (United States)

    Bonamico, Margherita; Pasquino, Anna M; Mariani, Paolo; Danesi, Helene M; Culasso, Franco; Mazzanti, Laura; Petri, Antonella; Bona, Giovanni

    2002-12-01

    A multicenter study of Turner syndrome (TS) patients was carried out to estimate the prevalence of celiac disease (CD) and to detect clinical characteristics and laboratory data of affected patients. Three hundred eighty-nine girls with TS were screened by IgA antigliadin antibodies and/or antiendomysial antibodies. Intestinal biopsy was offered to positive cases. CD was diagnosed in 25 patients. In celiac subjects, anemia, anorexia, and delayed growth (with respect to Italian TS curves) were frequently present; whereas distended abdomen, chronic diarrhea, constipation, and vomiting occurred more rarely. In addition, low serum iron levels, hemoglobinemia, and high values of aminotransferases were observed. Ten patients showed classic CD, 8 showed atypical symptoms, and 7 showed a silent CD. In 11 symptomatic patients, the diagnosis of CD was made at the onset of symptoms, whereas 7 of them showed a median delay of 79 months in diagnosis. Other autoimmune disorders were observed in 40% of the patients. Our study confirms the high prevalence (6.4%) of CD in a large series of TS patients. Moreover, the subclinical picture in 60% of the cases, the diagnostic delay, and the incidence of other autoimmune disorders suggest that routine screening of CD in TS is indicated.

  2. Scientific understanding and clinical management of Dupuytren disease.

    Science.gov (United States)

    Shih, Barbara; Bayat, Ardeshir

    2010-12-01

    Dupuytren disease (DD) is a fibroproliferative disorder of unknown etiology that often results in shortening and thickening of the palmar fascia, leading to permanent and irreversible flexion contracture of the digits. This Review provides a detailed update of the scientific understanding of DD and its clinical management, with perspectives on emerging research and therapy. Established risk factors include genetic predisposition and ethnicity, as well as sex and age. Several environmental risk factors (some considered controversial) include smoking, alcohol intake, trauma, diabetes, epilepsy and use of anticonvulsant drugs, and exposure to vibration. DD has been variously attributed to the presence of oxygen free radicals, trauma to the palmar fascia, or aberrant immune responses with altered antigen presentation, or to interactions between these proposed mechanisms. The presence of immune cells and related phenomena in DD-affected tissue suggests that DD is possibly immune-related. Mechanically, digital contracture is caused by myofibroblasts in the DD palmar fascia; however, the exact origin of this cell type remains unknown. The mainstay of treatment is surgical release or excision of the affected palmodigital tissue, but symptoms often recur. Nonsurgical correction of DD contractures can be achieved by Clostridium histolyticum collagenase injection, although the long-term safety and recurrence rate of this procedure requires further assessment.

  3. BACE1 inhibitor drugs in clinical trials for Alzheimer's disease.

    Science.gov (United States)

    Vassar, Robert

    2014-01-01

    β-site amyloid precursor protein cleaving enzyme 1 (BACE1) is the β-secretase enzyme required for the production of the neurotoxic β-amyloid (Aβ) peptide that is widely considered to have a crucial early role in the etiology of Alzheimer's disease (AD). As a result, BACE1 has emerged as a prime drug target for reducing the levels of Aβ in the AD brain, and the development of BACE1 inhibitors as therapeutic agents is being vigorously pursued. It has proven difficult for the pharmaceutical industry to design BACE1 inhibitor drugs that pass the blood-brain barrier, however this challenge has recently been met and BACE1 inhibitors are now in human clinical trials to test for safety and efficacy in AD patients and individuals with pre-symptomatic AD. Initial results suggest that some of these BACE1 inhibitor drugs are well tolerated, although others have dropped out because of toxicity and it is still too early to know whether any will be effective for the prevention or treatment of AD. Additionally, based on newly identified BACE1 substrates and phenotypes of mice that lack BACE1, concerns have emerged about potential mechanism-based side effects of BACE1 inhibitor drugs with chronic administration. It is hoped that a therapeutic window can be achieved that balances safety and efficacy. This review summarizes the current state of progress in the development of BACE1 inhibitor drugs and the evaluation of their therapeutic potential for AD.

  4. Clinical therapeutic efficacy of intra-aortic balloon pump as an adjuvant treatment after percutaneous coronary intervention in patients with coronary heart disease associated with chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Zi-lan JING

    2015-06-01

    Full Text Available Objective To explore the clinical efficacy of intra-aortic balloon pump (IABP as an auxiliary treatment of percutaneous coronary intervention (PCI in patients with coronary heart disease (CHD associated with chronic kidney disease. Methods One hundred and twenty CHD patients with concomitant chronic kidney disease and receiving PCI in our hospital from Jan. 2000 to Jul. 2014, and 123 simple CHD patients without renal dysfunction, who had undergone PCI with concomitant IABP for the cardiac pump failure, cardiogenic shock, acute left heart failure, unstable angina pectoris (UP which was not allayed by medical treatment, or acute myocardial infarction (AMI, were selected for observation of preoperative condition, in-hospital mortality and prognosis of patients in two groups. Results There was no statistically significant difference in general clinical data including gender, age, and concomitant hypertension and diabetes, and preoperative blood lipid, AST, D-dimer, APTT, and international normalized ratio (INR showed also no statistically significant difference before surgery between two groups of patients (P>0.05. The difference in proportion of AMI, the left main trunk and (or three-branches involvement was of no statistical significance (P>0.05, but there was significant difference in the incidence of previous myocardial infarction, TnT, CK-MB, Cr, BUN, stent number, IABP application time (P0.05 between the two groups. Logistic regression analysis revealed that diabetes and the number of stents were independent risk factors for in-hospital and long-term mortalities. Conclusions By means of the effective cardiac assistance of IABP, CHD patients with renal insufficiency have the same short and long term clinical prognosis as simple CHD patients without renal dysfunction who has undergone PCI. Diabetes and the number of stents are independent risk factors for in-hospital and 1-year mortality. DOI: 10.11855/j.issn.0577-7402.2015.04.03

  5. Population Genomics and the Statistical Values of Race: An Interdisciplinary Perspective on the Biological Classification of Human Populations and Implications for Clinical Genetic Epidemiological Research

    Science.gov (United States)

    Maglo, Koffi N.; Mersha, Tesfaye B.; Martin, Lisa J.

    2016-01-01

    The biological status and biomedical significance of the concept of race as applied to humans continue to be contentious issues despite the use of advanced statistical and clustering methods to determine continental ancestry. It is thus imperative for researchers to understand the limitations as well as potential uses of the concept of race in biology and biomedicine. This paper deals with the theoretical assumptions behind cluster analysis in human population genomics. Adopting an interdisciplinary approach, it demonstrates that the hypothesis that attributes the clustering of human populations to “frictional” effects of landform barriers at continental boundaries is empirically incoherent. It then contrasts the scientific status of the “cluster” and “cline” constructs in human population genomics, and shows how cluster may be instrumentally produced. It also shows how statistical values of race vindicate Darwin's argument that race is evolutionarily meaningless. Finally, the paper explains why, due to spatiotemporal parameters, evolutionary forces, and socio-cultural factors influencing population structure, continental ancestry may be pragmatically relevant to global and public health genomics. Overall, this work demonstrates that, from a biological systematic and evolutionary taxonomical perspective, human races/continental groups or clusters have no natural meaning or objective biological reality. In fact, the utility of racial categorizations in research and in clinics can be explained by spatiotemporal parameters, socio-cultural factors, and evolutionary forces affecting disease causation and treatment response. PMID:26925096

  6. Population Genomics and the Statistical Values of Race:An Interdisciplinary Perspective on the Biological Classification of Human Populations and Implications for Clinical Genetic Epidemiological Research

    Directory of Open Access Journals (Sweden)

    Koffi N. Maglo

    2016-02-01

    Full Text Available The biological status and biomedical significance of the concept of race as applied to humans continue to be contentious issues despite the use of advanced statistical and clustering methods to determine continental ancestry. It is thus imperative for researchers to understand the limitations as well as potential uses of the concept of race in biology and biomedicine. This paper deals with the theoretical assumptions behind cluster analysis in human population genomics. Adopting an interdisciplinary approach, it demonstrates that the hypothesis that attributes the clustering of human populations to frictional effects of landform barriers at continental boundaries is empirically incoherent. It then contrasts the scientific status of the cluster and cline constructs in human population genomics, and shows how cluster may be instrumentally produced. It also shows how statistical values of race vindicate Darwin’s argument that race is evolutionarily meaningless. Finally, the paper explains why, due to spatiotemporal parameters, evolutionary forces and socio-cultural factors influencing population structure, continental ancestry may be pragmatically relevant to global and public health genomics. Overall, this work demonstrates that, from a biological systematic and evolutionary taxonomical perspective, human races/continental groups or clusters have no natural meaning or objective biological reality. In fact, the utility of racial categorizations in research and in clinics can be explained by spatiotemporal parameters, socio-cultural factors and evolutionary forces affecting disease causation and treatment response.

  7. Obesity paradox in heart failure: statistical artifact, or impetus to rethink clinical practice?

    Science.gov (United States)

    Charnigo, Richard; Guglin, Maya

    2017-01-01

    The "obesity paradox" in heart failure (HF) is a phenomenon of more favorable prognosis, especially better survival, in obese versus normal-weight HF patients. Various explanations for the paradox have been offered; while different in their details, they typically share the premise that obesity per se is not actually the cause of reduced mortality in HF. Even so, there is a lingering question of whether clinicians should refrain from, or at least soft-pedal on, encouraging weight loss among their obese HF patients. Against the backdrop of recent epidemiological analysis by Banack and Kaufman, which speculates that collider stratification bias may generate the obesity paradox, we seek to address the aforementioned question. Following a literature review, which confirms that obese HF patients are demographically and clinically different from their normal-weight counterparts, we present four hypothetical data sets to illustrate a spectrum of possibilities regarding the obesity-mortality association. Importantly, these hypothetical data sets become indistinguishable from each other when a crucial variable is unmeasured or unreported. While thorough, the discussion of these data sets is intended to be accessible to a wide audience, especially including clinicians, without a prerequisite of familiarity with advanced epidemiology. We also furnish intuitive visual diagrams which depict a version of the obesity paradox. These illustrations, along with reflection on the distinction between weight and weight loss (and, furthermore, between voluntary and involuntary weight loss), lead to our recommendation for clinicians regarding the encouragement of weight loss. Finally, our conclusion explicitly addresses the questions posed in the title of this article.

  8. Heterogeneous pattern of bone disease in adult type 1 Gaucher disease: clinical and pathological correlates.

    Science.gov (United States)

    van Dussen, L; Lips, P; van Essen, H W; Hollak, C E M; Bravenboer, N

    2014-09-01

    Gaucher disease (GD) is a lysosomal storage disorder characterized by accumulation of glucosylceramide in macrophages, so-called Gaucher cells, as a result of a deficiency of the lysosomal enzyme glucocerebrosidase. Bone complications are an important cause of morbidity of GD and are thought to result from imbalance in bone remodeling. Bone manifestations among GD patients demonstrate a large variation including increased osteoclastic bone resorption, low bone formation and osteonecrosis. The purpose of the current case series is to describe the histological features observed in undecalcified bone samples, obtained from three GD patients, and evaluate the relationship with clinical features in these patients. Bone fragments were obtained from three adult type 1 GD patients with variable degrees of bone disease during orthopedic surgery. Specimens were embedded without prior decalcification in methylmethacrylate and prepared for histology according to standardized laboratory procedures. Histology revealed a heterogeneous pattern of bone involvement. High cellularity of bone marrow, abundant presence of Gaucher cells (GCs) and high turnover were observed in a patient with a history of multiple bone complications, while minimal bone turnover and few GCs were detected in the mildest affected patient in this series. An intermediate picture with relatively low bone turnover and a substantial amount of Gaucher cells was demonstrated in the third, moderately affected patient. No gross abnormalities in three biochemical markers of bone turnover (osteocalcin, N-terminal propeptide of type 1 procollagen and type 1 collagen C-terminal telopeptide) were noted. Plastic embedding and subsequent Goldner and TRAP staining offered a unique possibility to study bone histological findings in GD. Our data show that bone manifestations in GD may vary both clinically as well as histologically and bone disease in GD will likely require a personalized approach.

  9. The Etiology of Genital Ulcer Disease among Patients Attending Sexually Transmitted Disease Clinics in Guangzhou, China

    Institute of Scientific and Technical Information of China (English)

    GU Jin(谷进); ZENG Zhirong(曾志荣); CHEN Rongzhang(陈荣章); ZHU Huilan(朱慧兰); QIU Xiaoshan(邱晓珊)

    2002-01-01

    Objectives: To investigate the etiology of genital ulcerdisease (GUD) among patients attending sexuallytransmitted disease (STD) clinics in Guangzhou, China.Methods: Between September 8, 1998, and August 9,2001, 267 patients with a genital ulcer were clinicallyassessed. Clinical etiology of GUD was dependent onphysical appearance and microbiologic examination,including the following: dark field microscopy and serologyfor Treponema pallidum (TP), swabs of genital ulcer forHerpes simplex virus (HSV), processed quantitativefluorescent polymerase chain reaction (QF-PCR) forsimultaneous detection of HSV, TP, Haemophilus ducreyi(HD), Human papillomavirus (HPV), and serology for HIVinfection.Results: Two hundred thirty men and thirty-sevenwomen with a median age of 33.4 (range 16-74 years) wereanalyzed. The etiology of GUD was syphilis (26.59%)(71/267), genital herpes (17.60%) (47/267), condylomataacuminata (4.87%) (13/267), candidiasis (3.37%) (9/267),bacterial infection (3.75%) (10/267), and multiple infection(6.74%) (18/267). The seroprevalence of HIV was 0.75%(2/267). No etiology was identified in 50.56% (135/267).Conclusion: The etiology of GUD among STD patients inour area was multifactorial with a predominance of syphilisand genital herpes. Based on this limited data obtained atSTD clinics, HIV infection was not common.

  10. Computational modelling for congenital heart disease: how far are we from clinical translation?

    Science.gov (United States)

    Biglino, Giovanni; Capelli, Claudio; Bruse, Jan; Bosi, Giorgia M; Taylor, Andrew M; Schievano, Silvia

    2017-01-01

    Computational models of congenital heart disease (CHD) have become increasingly sophisticated over the last 20 years. They can provide an insight into complex flow phenomena, allow for testing devices into patient-specific anatomies (pre-CHD or post-CHD repair) and generate predictive data. This has been applied to different CHD scenarios, including patients with single ventricle, tetralogy of Fallot, aortic coarctation and transposition of the great arteries. Patient-specific simulations have been shown to be informative for preprocedural planning in complex cases, allowing for virtual stent deployment. Novel techniques such as statistical shape modelling can further aid in the morphological assessment of CHD, risk stratification of patients and possible identification of new ‘shape biomarkers’. Cardiovascular statistical shape models can provide valuable insights into phenomena such as ventricular growth in tetralogy of Fallot, or morphological aortic arch differences in repaired coarctation. In a constant move towards more realistic simulations, models can also account for multiscale phenomena (eg, thrombus formation) and importantly include measures of uncertainty (ie, CIs around simulation results). While their potential to aid understanding of CHD, surgical/procedural decision-making and personalisation of treatments is undeniable, important elements are still lacking prior to clinical translation of computational models in the field of CHD, that is, large validation studies, cost-effectiveness evaluation and establishing possible improvements in patient outcomes. PMID:27798056

  11. Clinical features and coronary backgrounds of coexistent peripheral vascular disease in Japanese coronary artery disease patients.

    Science.gov (United States)

    Seino, Y; Takita, T; Tanaka, K; Takano, T; Hayakawa, H; Okumura, H

    1991-11-01

    By use of noninvasive tests (Doppler segmental pressure study, supraorbital Doppler flow analysis, and segmental plethysmography), coexistent carotid (CTD) or lower extremity peripheral vascular disease (PVD) were diagnosed and correlated with subjective symptoms, coronary risk factors (CRFs), coronary arteriograms (CAGs), cardiac hemodynamics, and infarct size in 121 consecutive patients with documented coronary artery disease (CAD). PVD was found in 16.5%, CTD in 33.1%, and both PVD and CTD in 9.9% of the patients studied; 20% of PVD patients and 47.5% of CTD patients were asymptomatic with respect to coexistent PVD or CTD. There were no significant differences between the presence or absence of PVD or CTD as regards number of CRFs, Killip classification, cardiac hemodynamics, or number of stenotic coronary arteries. However, serum creatine kinase (CK) and CKMB release curves in the PVD group showed significantly higher peak CK and peak CKMB values than those in the PVD(-) group (4096 +/- 5408/282 +/- 263 vs 1706 +/- 1715/179 +/- 186, p less than 0.05) because of the higher prevalence (100%) of multivessel disease on CAG. Investigation of the relationship of CRFs to coexistent PVD revealed that the smoking ratio in men (86.7%) and the hypertension ratio in women (80%) were extremely high in PVD patients, and statistically significant differences between PVD(+) patients and PVD(-) groups were found with respect to the obesity ratio (p less than 0.05) in men and the hypercholesterolemia ratio (p less than 0.05) and obesity ratio (60%, p less than 0.05) in women.(ABSTRACT TRUNCATED AT 250 WORDS)

  12. Use of the local Knox statistic for the prospective monitoring of disease occurrences in space and time.

    Science.gov (United States)

    Brooke Marshall, J; Spitzner, Dan J; Woodall, William H

    2007-03-30

    The detection of clusters of events occurring close together both temporally and spatially is important in finding outbreaks of disease within a geographic region. The Knox statistic is often used in epidemiology to test for space-time clustering retrospectively. For quicker detection of epidemics, prospective methods should be used in which observed events in space and time are assessed as they are recorded. The cumulative sum (CUSUM) surveillance method for monitoring the local Knox statistic tests for space-time clustering each time there is an incoming observation. We consider the design of this control chart by determining the in-control average run length (ARL) performance of the CUSUM chart for different space and time closeness thresholds as well as for different control limit values. We also explain the effect of population density and region shape on the in-control ARL and discuss other distributional issues that should be considered when implementing this method.

  13. Statistical identification of syndromes feature and structure of disease of western medicine based on general latent structure model.

    Science.gov (United States)

    Yang, Wei; Yi, Dan-Hui; Xie, Yan-Ming; Tian, Feng

    2012-11-01

    Syndrome differentiation is the character of Chinese medicine (CM). Disease differentiation is the principle of Western medicine (WM). Identifying basic syndromes feature and structure of disease of WM is an important avenue for prevention and treatment of integrated Chinese and Western medicine. The idea here is first to divide all patients suffering from a disease of WM into several groups in the light of the stage of the disease, and secondly to identify basic syndromes feature in a distinct stage, and finally to achieve the purpose of syndrome differentiation. Syndrome differentiation is simply taken as a classifier that classifies patients into distinct classes primarily based on overall observation of their symptoms. Previous clustering methods are unable to cope with the complexity of CM. We therefore show a new multi-dimensional clustering method in the form of general latent structure (GLS) model, which is a suitable statistical learning technique of latent class analysis. In this paper, we learn an optimal GLS model which reflects much better model quality compared with other latent class models from the osteoporosis patient of community women (OPCW) real data including 40-65 year-old women whose bone mineral density (BMD) is less than mean-2.0 standard deviation (M-2.0SD). Further, we illustrate a case analysis of statistical identification of CM syndromes feature and structure of OPCW from qualitative and quantitative contents through the GLS model. Our analysis has discovered natural clusters and structures that correspond well to CM basic syndrome and factors of osteoporosis patients (OP). The GLS model suggests the possibility of establishing objective and quantitative diagnosis standards for syndrome differentiation on OPCW. Hence, for the future it can provide a reference for the similar study from the perspective of a combination of disease differentiation and syndrome differentiation.

  14. PERFORMANCE EVALUATION OF VARIOUS STATISTICAL CLASSIFIERS IN DETECTING THE DISEASED CITRUS LEAVES

    Directory of Open Access Journals (Sweden)

    SUDHEER REDDY BANDI

    2013-02-01

    Full Text Available Citrus fruits are in lofty obligation because the humans consume them daily. This research aims to amend citrus production, which knows a low upshot bourgeois on the production and complex during measurements. Nowadays citrus plants grappling some traits/diseases. Harm of the insect is one of the major trait/disease. Insecticides are not ever evidenced effectual because insecticides may be toxic to some gracious of birds. Farmers get outstanding difficulties in detecting the diseases ended open eye and also it is quite expensive.Machine vision and Image processing techniques helps in sleuthing the disease mark in citrus leaves and sound job. In this search, Citrus leaves of four classes like Normal, Greasy spot, Melanose and Scab are collected and investigated using texture analysis based on the Color Co-occurrence Method (CCM to take Hue, Saturation and Intensity (HSI features. In the arrangement form, the features are categorised for all leafage conditions using k-Nearest Neighbor (kNN, Naive Bayes classifier (NBC, Linear Discriminate Analysis (LDA classifier and Random Forest Tree Algorithm classifier (RFT. The experimental results inform that proposed attack significantly supports 98.75% quality in automated detection of regular and struck leaves using texture psychotherapy based CCM method using LDA formula. Eventually all the classifiers are compared using Earphone Operative Characteristic contour and analyzed the performance of all the classifiers.

  15. [Top ten progressions of clinical research in fundus diseases in China].

    Science.gov (United States)

    2014-11-01

    Ten research items in the past five years representing the progression of clinical research in fundus diseases in China were voted by specialists from the Ocular Fundus Disease Group of Ophthalmology Society of Chinese Medical Association. Choroidal neovascular disease, pediatric retinal disease, polypoidal choroidal vasculopathy, intraocular malignant tumor, and intraocular infection caused by specific pathogens are covered. Novel treatment, like anti-VEGF medication, PDT, minimally invasive vitrectomy, and intraocular injection, establishment of the Clinical Research Center of New Drug Development, and the epidemiologic study of fundus diseases are also included. These landmark research progressions represent the power and influence of Chinese fundus disease scholars in the world.

  16. How to distinguish healthy from diseased? Classification strategy for mass spectrometry-based clinical proteomics

    NARCIS (Netherlands)

    Hendriks, M.M.W.B.; Smit, S.; Akkermans, W.L.M.W.; Reijmers, T.H.; Eilers, P.H.C.; Hoefsloot, H.C.J.; Rubingh, C.M.; Koster, C.G. de; Aerts, J.M.; Smilde, A.K.

    2007-01-01

    SELDI-TOF-MS is rapidly gaining popularity as a screening tool for clinical applications of proteomics. Application of adequate statistical techniques in all the stages from measurement to information is obligatory. One of the statistical methods often used in proteomics is classification: the assig

  17. Currently Clinical Views on Genetics of Wilson′s Disease

    Directory of Open Access Journals (Sweden)

    Chen Chen

    2015-01-01

    Conclusions: Clinical genetics studies are necessary to understand the mechanism underlying WD at the molecular level from the genotype to the phenotype. Clinical genetics research benefits newly emerging medical treatments including stem cell transplantation and gene therapy for WD patients.

  18. Clinical expression of Menkes disease in females with normal karyotype

    Directory of Open Access Journals (Sweden)

    Møller Lisbeth

    2012-01-01

    Full Text Available Abstract Background Menkes Disease (MD is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X inactivation, and they are rarely affected. In the largest cohort of MD patients reported so far which consists of 517 families we identified 9 neurologically affected carriers with normal karyotypes. Methods We investigated at-risk females for mutations in the ATP7A gene by sequencing or by multiplex ligation-dependent probe amplification (MLPA. We analyzed the X-inactivation pattern in affected female carriers, unaffected female carriers and non-carrier females as controls, using the human androgen-receptor gene methylation assay (HUMAR. Results The clinical symptoms of affected females are generally milder than those of affected boys with the same mutations. While a skewed inactivation of the X-chromosome which harbours the mutation was observed in 94% of 49 investigated unaffected carriers, a more varied pattern was observed in the affected carriers. Of 9 investigated affected females, preferential silencing of the normal X-chromosome was observed in 4, preferential X-inactivation of the mutant X chromosome in 2, an even X-inactivation pattern in 1, and an inconclusive pattern in 2. The X-inactivation pattern correlates with the degree of mental retardation in the affected females. Eighty-one percent of 32 investigated females in the control group had moderately skewed or an even X-inactivation pattern. Conclusion The X- inactivation pattern alone cannot be used to predict the phenotypic outcome in female carriers, as even those with skewed X-inactivation of the X-chromosome harbouring the mutation might have neurological symptoms.

  19. Clinical outcome of patients with refractory Kawasaki disease based on treatment modalities

    Science.gov (United States)

    Kim, Hyun Jung; Lee, Hyo Eun; Yu, Jae Won

    2016-01-01

    Purpose Although a significant number of reports on new therapeutic options for refractory Kawasaki disease (KD) such as steroid, infliximab, or repeated intravenous immunoglobulin (IVIG) are available, their effectiveness in reducing the prevalence of coronary artery lesions (CAL) remains controversial. This study aimed to define the clinical characteristics of patients with refractory KD and to assess the effects of adjuvant therapy on patient outcomes. Methods We performed a retrospective study of 38 refractory KD patients from January 2012 to March 2015. We divided these patients into 2 groups: group 1 received more than 3 IVIG administration+ steroid therapy, (n=7, 18.4%), and group 2 patients were unresponsive to initial IVIG and required steroid therapy or second IVIG (n=31, 81.6%). We compared the clinical manifestations, laboratory results, and echocardiographic findings between the groups and examined the clinical utility of additional therapies in both groups. Results A significant difference was found in the total duration of fever between the groups (13.0±4.04 days in group 1 vs. 8.87±2.30 days in group 2; P=0.035). At the end of the follow-up, all cases in group 1 showed suppressed CAL. In group 2, coronary artery aneurysm occurred in 2 patients (6.4 %). All the patients treated with intravenous corticosteroids without additional IVIG developed CALs including coronary artery aneurysms. Conclusion No statistical difference was found in the development of CAL between the groups. Prospective, randomized, clinical studies are needed to elucidate the effects of adjunctive therapy in refractory KD patients. PMID:27610181

  20. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

    OpenAIRE

    2009-01-01

    Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an established feature of Gaucher's disease and an increased frequency of mutations in GBA has been reported in several different ethnic series with sporadic Parkinson's disease. In this study, we evaluated the frequency of GBA mutations in British patients affected by Parkinson's disease. We utilized the DNA of 790 patients and 257 controls, matche...

  1. Common clinical practice versus new PRIM score in predicting coronary heart disease risk

    DEFF Research Database (Denmark)

    Frikke-Schmidt, Ruth; Tybjærg-Hansen, Anne; Schnohr, Peter;

    2010-01-01

    To compare the new Patient Rule Induction Method (PRIM) Score and common clinical practice with the Framingham Point Score for classification of individuals with respect to coronary heart disease (CHD) risk.......To compare the new Patient Rule Induction Method (PRIM) Score and common clinical practice with the Framingham Point Score for classification of individuals with respect to coronary heart disease (CHD) risk....

  2. Funding, disease area, and internal validity of hepatobiliary randomized clinical trials

    DEFF Research Database (Denmark)

    Kjaergard, Lise Lotte; Gluud, Christian

    2002-01-01

    The aim of this study was to assess whether funding and the disease area are related to the internal validity of hepatobiliary randomized clinical trials.......The aim of this study was to assess whether funding and the disease area are related to the internal validity of hepatobiliary randomized clinical trials....

  3. Development, validation and clinical assessment of a short questionnaire to assess disease-related knowledge in inflammatory bowel disease patients.

    LENUS (Irish Health Repository)

    Keegan, Denise

    2013-02-01

    Only two inflammatory bowel disease (IBD) knowledge scales are available, both primarily aimed at evaluating the effectiveness of clinical education programs. The aim of this study was to develop and validate a short knowledge questionnaire for clinical and academic research purposes.

  4. Value and Clinical Impact of an Infectious Disease-Supervised Outpatient Parenteral Antibiotic Therapy Program

    Science.gov (United States)

    Petrak, Russell M.; Skorodin, Nathan C.; Fliegelman, Robert M.; Hines, David W.; Chundi, Vishnu V.; Harting, Brian P.

    2016-01-01

    Background. Outpatient parenteral antibiotic therapy (OPAT) is a safe and effective modality for treating serious infections. This study was undertaken to define the value of OPAT in a multicentered infectious disease (ID) private practice setting. Methods. Over a period of 32 months, 6120 patients were treated using 19 outpatient ID offices in 6 states. Analysis included patient demographics, indications of OPAT, diagnoses, therapeutic agent, duration of therapy, and site of therapy initiation. Outcomes were stratified by therapeutic success, clinical relapse, therapeutic complications, and hospitalizations after initiating therapy. Statistical analysis included an ordinal logistic regression analysis. Results. Forty-three percent of patients initiated therapy in an outpatient office, and 57% began therapy in a hospital. Most common diagnoses treated were bone and joint (32.2%), abscesses (18.8%), cellulitis (18.5%), and urinary tract infection (10.8%). Ninety-four percent of patients were successfully treated, and only 3% were hospitalized after beginning therapy. Most common cause of treatment failure was a relapse of primary infection (60%), progression of primary infection (21%), and therapeutic complication (19%). Conclusions. An ID-supervised OPAT program is safe, efficient, and clinically effective. By maximizing the delivery of outpatient care, OPAT provides a tangible value to hospitals, payers, and patients. This program is a distinctive competency available to ID physicians who offer this service to patients.

  5. Potential Biomarkers of the Earliest Clinical Stages of Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Anelya Kh. Alieva

    2015-01-01

    Full Text Available Parkinson’s disease (PD is a widespread neurodegenerative disorder. Despite the intensive studies of this pathology, in general, the picture of the etiopathogenesis has still not been clarified fully. To understand better the mechanisms underlying the pathogenesis of PD, we analyzed the expression of 10 genes in the peripheral blood of treated and untreated patients with PD. 35 untreated patients with PD and 12 treated patients with Parkinson’s disease (Hoehn and Yahr scores 1-2 were studied. An analysis of the mRNA levels of ATP13A2, PARK2, PARK7, PINK1, LRRK2, SNCA, ALDH1A1, PDHB, PPARGC1A, and ZNF746 genes in the peripheral blood of patients was carried out using reverse transcription followed by real-time PCR. A statistically significant and specific increase by more than 1.5-fold in the expression of the ATP13A2, PARK7, and ZNF746 genes was observed in patients with PD. Based on these results, it can be suggested that the upregulation of the mRNA levels of ATP13A2, PARK7, and ZNF746 in untreated patients in the earliest clinical stages can also be observed in the preclinical stages of PD, and that these genes can be considered as potential biomarkers of the preclinical stage of PD.

  6. Hemorheological Alteration in Patients Clinically Diagnosed with Chronic Liver Diseases.

    Science.gov (United States)

    Jang, Bohyun; Han, Ji Won; Sung, Pil Soo; Jang, Jeong Won; Bae, Si Hyun; Choi, Jong Young; Cho, Young I; Yoon, Seung Kew

    2016-12-01

    Since liver function is changed by chronic liver diseases, chronic liver disease can lead to different hemorheological alterations during the course of the progression. This study aims to compare alterations in whole blood viscosity in patients with chronic liver disease, focusing on the gender effect. Chronic liver diseases were classified into three categories by patient's history, serologic markers, and radiologic findings: nonalcoholic fatty liver disease (NAFLD) (n = 63), chronic viral hepatitis B and C (n = 50), and liver cirrhosis (LC) (n = 35). Whole blood viscosity was measured by automated scanning capillary tube viscometer, while liver stiffness was measured by transient elastography using FibroScan®. Both systolic and diastolic whole blood viscosities were significantly lower in patients with LC than NAFLD and chronic viral hepatitis (P chronic viral hepatitis. Our data suggest that whole blood viscosity test can become a useful tool for classifying chronic liver disease and determining the prognosis for different types of chronic liver diseases.

  7. Prevalence and clinical significance of nonorgan specific antibodies in patients with autoimmune thyroiditis as predictor markers for rheumatic diseases

    Science.gov (United States)

    Elnady, Basant M.; Kamal, Naglaa M.; Shaker, Raneyah H.M.; Soliman, Amal F.; Hasan, Waleed A.; Alghamdi, Hamed A.; Algethami, Mohammed M.; Jajah, Mohamed Bilal

    2016-01-01

    Abstract Autoimmune diseases are considered the 3rd leading cause of morbidity and mortality in the industrialized countries. Autoimmune thyroid diseases (ATDs) are associated with high prevalence of nonorgan-specific autoantibodies, such as antinuclear antibodies (ANA), antidouble-stranded deoxyribonucleic acid (anti-dsDNA), antiextractable-nuclear antigens (anti-ENAs), rheumatoid factor (RF), and anticyclic-citrullinated peptides (anti-CCP) whose clinical significance is unknown. We aimed to assess the prevalence of various nonorgan-specific autoantibodies in patients with ATD, and to investigate the possible association between these autoantibodies and occurrence of rheumatic diseases and, if these autoantibodies could be considered as predictor markers for autoimmune rheumatic diseases in the future. This study had 2 phases: phase 1; in which 61 ATD patients free from rheumatic manifestations were assessed for the presence of these nonorgan-specific autoantibodies against healthy 61 control group, followed by 2nd phase longitudinal clinical follow-up in which cases are monitored systematically to establish occurrence and progression of any rheumatic disease in association to these autoantibodies with its influences and prognosis. Regarding ATD patients, ANA, anti-dsDNA, Anti-ENA, and RF were present in a percentage of (50.8%), (18%), (21.3%), and (34.4%), respectively, with statistically significance difference (P < 0.5) rather than controls. Nearly one third of the studied group (32.8%) developed the rheumatic diseases, over 2 years follow-up. It was obvious that those with positive anti-dsDNA had higher risk (2.45 times) to develop rheumatic diseases than those without. There was a statistically significant positive linear relationship between occurrence of disease in months and (age, anti-dsDNA, anti-CCP, RF, and duration of thyroiditis). Anti-dsDNA and RF are the most significant predictors (P < 0.0001). ATD is more associated with rheumatic

  8. CLINICAL AND BIOCHEMICAL SPECTRUM OF CHRONIC KIDNEY DISEASE IN TERTIARY CARE CENTER”

    Directory of Open Access Journals (Sweden)

    Renuka Prasad

    2012-12-01

    Full Text Available ABSTRACT:BACKGROUND OF THE STUDY : The chronic kidney disease (CKD is a known end result of type2 Diabetes mellitus and hypertension i n recent times. It is associated with many features like hyperkalemia,hypocalcemia,hyponatremia,a naemia, hypoalbuminemia,multidrug resistant high blood pressure etc.So if we detect al l these features early,we can extend the quality life of CKD patients. OBJECTIVES: The present study is undertaken with the following objective, to assess the clinical profile , biochemical profile and to determine the aetiology of chronic kidney disease, wherever possible at the ti me of presentation. MATERIALS AND METHODS : This is a descriptive study in which 50 patients with chronic kidney disease (CKD ,who admitted at Chigateri General Hospital and Bapu ji Hospital, attached to J.J.M. Medical College, Davangere, between year 2009 to 2011 we re included.They were all fulfilled the criteria set by the National Kidney Foundations, Ki dney Disease outcome quality initiative for diagnosing CKD by subjecting them to clinical asse ssment, laboratory analysis and ultrasonography of the abdomen and pelvis.The descri ptives were reported based on frequencies and percentages (statistical method. RESULTS: The aetiology of CRF in our patients were found to be diabetic nephropathy in 38%, hypertensive nephropathy in 28%, chronic glomerulonephritis in 24%, obstructive uropat hy in 6%, polycystic kidney disease in 2% and chronic pyelonephritis in 2%. The abnormalit y in the laboratory profile of the patients were found to be anaemia in 90%, hypocalcemia in 46% , hypoalbuminaemia in 34%, pedal edema in 78% and oliguria in 76%. The commonest c linical signs were high blood pressure in 92% and pallor in 90% of patients. CONCLUSIONS: The following conclusions can be drawn by our study, 1. The major symptoms were swelling of feet,oliguria an d breathlessness, the major signs were pallor and persistent high blood pressure. 2. The major causes of

  9. Paget's Disease of the Breast: Clinical Analvsis of 45 Patients

    Institute of Scientific and Technical Information of China (English)

    MingtianYang; HaoLong; JiehuaHe; XiWang; ZemingXie

    2004-01-01

    OBJECTIVE Paget's disease is an uncommon breast malignancy and often misdiagnosed. If the patient is treated at an early stage, the prognos is is satisfactory. Our study analyzed the clinical characteristics of the disease and the factors influencing the prognosis.METHOOS Fourty-five patients with Paget's disease who were admitted to our hospital were analyzed retrospectively.RESULTS The most common symptoms of the disease were erosion and a bleeding-like eczematoid change at the nipple/areola. Qf the 40 patients with an eczematoid change, 11 patients had verified Paget's disease with a palpable mass on physical examination, and 29 patients had verified Paget's disease with a nonpalpable mass. Only 5 patients manifested a mass with no eczematiod change. Thirteen patients had ipsilateral axillary lymphadenopathy. In this study, 25 cases were treated by radical mastectomy and 20 cases were treated by modified radical mastectomy.Five and 10-year survival rates for the patients with nonpalpable massesand for those with palpable masses were 95.5%, 78.6%, and 53.8%, 36.4% respectively. The former were significantly higher than the latter (P <0.01 and <0.05 respectively). Five and 10-year survival rates for the patients without underlying carcinoma (DClS/IDC) and for the patients with underlyingcarcinoma were 100%, 88.9% and 69.6%, 43.8% respectively. The former were significantly higher than the latter (P<0.05) Five and 10-year survival rates for the patients with negative lymph nodes and for the patients with positive lymph nodes were 92.0%, 76.5% and 50.0%, 25.0% respectively.The former were also significantly higher than the latter (P <0.05).CONCLUSION Treatment at an early stage is very important and influences the prognosis directly for Paget's disease of the breast. The survival rates of patients with nonpalpable masses without underlying carcinoma and without lymphadenopathy, were significantly higher than patients with palpable masses with underlying carcinoma

  10. Genital ulcers disease among sexually transmitted disease clinic attendees in Ibadan, Nigeria.

    Science.gov (United States)

    Fawole, O I; Okesola, A O; Fawole, A O

    2000-03-01

    Genital ulcer disease (GUD) is a risk factor in the transmission of human immuno deficiency virus (HIV). The goal of this study is to estimate proportion, identify risk factors, and improve prevention and control of GUD. This is a retrospective study of 211 cases of GUD seen between 1993 and 1997 in an urban public sexually transmitted disease (STD) clinic. Genital ulcers form 7.6% of all STDs seen. Overall, genital herpes was commonest (89 or 42.25%). It was the predominant infection (84 or 44.7%) in the males, while lymphogranuloma venereum (52 or 24.7%) was in females. The peak incidence in both sexes occurred in the 20-29 age group. Males out numbered females by a ratio of 8:1. Most of the patients were single 114 (68.3%) and most 70 or 33.3% were students. Risk markers identified were: casual sex (103 or 53.5%) and multiple sexual partners (77 or 36.5%). Both were significantly higher (P < 0.05) in single patients. Self-treatment, use of multiple drugs and incomplete course of antibiotics were also common. The need to intensify STDS education programmes to all occupational groups and to students in particular is highlighted. Commercial sex workers require periodic education, screening and treatment.

  11. Distinct laterality alterations distinguish mild cognitive impairment and Alzheimer's disease from healthy aging: statistical parametric mapping with high resolution MRI.

    Science.gov (United States)

    Long, Xiaojing; Zhang, Lijuan; Liao, Weiqi; Jiang, Chunxiang; Qiu, Bensheng

    2013-12-01

    Laterality of human brain varies under healthy aging and diseased conditions. The alterations in hemispheric asymmetry may embed distinct biomarkers linked to the disease dynamics. Statistical parametric mapping based on high-resolution magnetic resonance imaging (MRI) and image processing techniques have allowed automated characterization of morphological features across the entire brain. In this study, 149 subjects grouped in healthy young, healthy elderly, mild cognitive impairment (MCI), and Alzheimer's disease (AD) were investigated using multivariate analysis for regional cerebral laterality indexed by surface area, curvature index, cortical thickness, and subjacent white matter volume measured on high-resolution MR images. Asymmetry alteration of MCI and AD were characterized by marked region-specific reduction, while healthy elderly featured a distinct laterality shift in the limbic system in addition to regional asymmetry loss. Lack of the laterality shift in limbic system and early loss of asymmetry in entorhinal cortex may be biomarkers to identify preclinical AD among other dementia. Multivariate analysis of hemispheric asymmetry may provide information helpful for monitoring the disease progress and improving the management of MCI and AD.

  12. Huntington's disease: from molecular pathogenesis to clinical treatment.

    Science.gov (United States)

    Ross, Christopher A; Tabrizi, Sarah J

    2011-01-01

    Huntington's disease is a progressive, fatal, neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene, which encodes an abnormally long polyglutamine repeat in the huntingtin protein. Huntington's disease has served as a model for the study of other more common neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. These disorders all share features including: delayed onset; selective neuronal vulnerability, despite widespread expression of disease-related proteins during the whole lifetime; abnormal protein processing and aggregation; and cellular toxic effects involving both cell autonomous and cell-cell interaction mechanisms. Pathogenic pathways of Huntington's disease are beginning to be unravelled, offering targets for treatments. Additionally, predictive genetic testing and findings of neuroimaging studies show that, as in some other neurodegenerative disorders, neurodegeneration in affected individuals begins many years before onset of diagnosable signs and symptoms of Huntington's disease, and it is accompanied by subtle cognitive, motor, and psychiatric changes (so-called prodromal disease). Thus, Huntington's disease is also emerging as a model for strategies to develop therapeutic interventions, not only to slow progression of manifest disease but also to delay, or ideally prevent, its onset.

  13. Canavan disease - unusual imaging features in a child with mild clinical presentation

    Energy Technology Data Exchange (ETDEWEB)

    Nguyen, Ho V.; Ishak, Gisele E. [University of Washington, Department of Radiology, Seattle Children' s Hospital, Seattle, WA (United States)

    2015-03-01

    Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood. Associated with rapidly progressive clinical deterioration, it usually results in death by the third year of life. The predominant MRI appearance is diffuse and symmetrical white matter disease. We discuss an atypical, late presentation of Canavan disease with a benign clinical course and uncharacteristic imaging features. This case introduces a previously unreported pattern of diffuse cortical abnormality without significant white matter involvement. (orig.)

  14. The synergy factor: a statistic to measure interactions in complex diseases

    Directory of Open Access Journals (Sweden)

    Combarros Onofre

    2009-06-01

    Full Text Available Abstract Background One challenge in understanding complex diseases lies in revealing the interactions between susceptibility factors, such as genetic polymorphisms and environmental exposures. There is thus a need to examine such interactions explicitly. A corollary is the need for an accessible method of measuring both the size and the significance of interactions, which can be used by non-statisticians and with summarised, e.g. published data. The lack of such a readily available method has contributed to confusion in the field. Findings The synergy factor (SF allows assessment of binary interactions in case-control studies. In this paper we describe its properties and its novel characteristics, e.g. in calculating the power to detect a synergistic effect and in its application to meta-analyses. We illustrate these functions with real examples in Alzheimer's disease, e.g. a meta-analysis of the potential interaction between a BACE1 polymorphism and APOE4: SF = 2.5, 95% confidence interval: 1.5–4.2; p = 0.0001. Conclusion Synergy factors are easy to use and clear to interpret. Calculations may be performed through the Excel programmes provided within this article. Unlike logistic regression analysis, the method can be applied to datasets of any size, however small. It can be applied to primary or summarised data, e.g. published data. It can be used with any type of susceptibility factor, provided the data are dichotomised. Novel features include power estimation and meta-analysis.

  15. Meta-analysis of clinical studies with betahistine in Ménière's disease and vestibular vertigo.

    Science.gov (United States)

    Nauta, Jozef J P

    2014-05-01

    We present a meta-analysis of 12 double-blind, randomized, placebo-controlled clinical studies with betahistine in patients suffering from vestibular vertigo or Ménière's disease, based on both published and unpublished data. The clinical endpoint we used was the investigator's overall opinion on the response to treatment of the vertigo symptoms, after at least 1 month of treatment. We introduce a new effect parameter, the odds of a favorable treatment outcome, with the odds ratio as measure to compare the responses of betahistine and placebo patients. For each study a separate odds ratio was estimated (the study-specific odds ratio). All but one of the study-specific odds ratios were >1.0, meaning that with the new effect parameter there was evidence of an effect of betahistine on vertigo symptoms in 11 of the 12 studies. Four of the 12 studies showed a statistically significant effect in favor of betahistine compared to placebo. The meta-analytical (i.e., average) odds ratio was 2.58 (95% confidence interval 1.67-3.99), a statistically significant result. This means that on average, the likelihood of a favorable outcome is almost two times higher for patients treated with betahistine than for placebo-treated patients. Sub-analyses conducted for patients with Ménière's disease on one hand and with vestibular vertigo on the other hand also yielded statistically significant results. For Ménière's disease, the meta-analytical odds ratio was 3.37 (95% CI 2.14-5.29); for vestibular vertigo, the odds ratio was 2.23 (95% CI 1.20-4.14). Our meta-analysis supports the therapeutic benefit of betahistine on vertiginous symptoms in both Ménière's disease and vestibular vertigo.

  16. IgG4-RELATED DISEASE. CLINICAL NOTES

    Directory of Open Access Journals (Sweden)

    Vladimir Ivanovich Vasilyev

    2013-01-01

    Full Text Available IgG4-related diseases are a new nosological entity that encompasses a few previously known diseases. IgG4-related systemic disease is diagnosed if two or more affected organs are detected. This group of diseases has two similar signs: serological (elevated serum IgG4 subclass concentrations and histological (organ and tissue infiltration from plasmo-cytes secreting IgG4, and eosinophils, and the development of fibrosclerosis and phlebitis obliterans. The paper describes two cases. In one case, a multisystemic disease was observed virtually at its onset whereas in the other this lesion was diagnosed several years after the natural course of the disease.

  17. The clinical management of Type 2 Gaucher disease.

    Science.gov (United States)

    Weiss, Karin; Gonzalez, Ashley N; Lopez, Grisel; Pedoeim, Leah; Groden, Catherine; Sidransky, Ellen

    2015-02-01

    Gaucher disease, the inherited deficiency of the enzyme glucocerebrosidase, is the most common of the lysosomal storage disorders. Type 2 Gaucher disease, the most severe and progressive form, manifests either prenatally or in the first months of life, followed by death within the first years of life. The rarity of the many lysosomal storage disorders makes their diagnosis a challenge, especially in the newborn period when the focus is often on more prevalent illnesses. Thus, a heightened awareness of the presentation of these rare diseases is necessary to ensure their timely consideration. This review, designed to serve as a guide to physicians treating newborns and infants with Gaucher disease, discusses the presenting manifestations of Type 2 Gaucher disease, the diagnostic work-up, associated genotypes and suggestions for management. We also address the ethical concerns that may arise with this progressive and lethal disorder, since currently available treatments may prolong life, but do not impact the neurological manifestations of the disease.

  18. The Clinical Diagnosis of Autoimmune Bullous Diseases Sürekli Eğitim

    Directory of Open Access Journals (Sweden)

    Rıfkiye Küçükoğlu

    2011-06-01

    Full Text Available The autoimmune bullous diseases were diagnosed on the clinical and histopathological basis, before the introduction of the immunological assays. However, not the clinical features, but the classification of the diseases has recently changed during the immunological development. According to this new classification, pemphigus group diseases include, pemphigus vulgaris, pemphigus vegetans, pemphigus foliaceus, pemphigus erythematosus, endemic pemphigus, IgA pemphigus, pemphigus herpetiformis, paraneoplastic pemphigus, and drug-induced pemphigus. The subepidermal bullous diseases are classified as pemphigoid group diseases, epidermolysis bullosa acquisita, dermatitis herpetiformis, and linear IgA bullous dermatosis. The pemphigoid-group diseases consist of bullous pemphigoid, childhood bullous pemphigoid, localised bullous pemphigoid, drug-induced pemphigoid, anti p200 pemphigoid, pemphigoid gestationes, pemphigoid nodularis, and cicatricial pemphigoid. In this review, the clinical features of the autoimmune bullous diseases are discussed according to the above mentioned classification. (Turkderm 2010; 45 Suppl 1: 16-25

  19. Predicting Ebola Severity: A Clinical Prioritization Score for Ebola Virus Disease

    Science.gov (United States)

    Okoni-Williams, Harry Henry; Suma, Mohamed; Mancuso, Brooke; Al-Dikhari, Ahmed; Faouzi, Mohamed

    2017-01-01

    Background Despite the notoriety of Ebola virus disease (EVD) as one of the world’s most deadly infections, EVD has a wide range of outcomes, where asymptomatic infection may be almost as common as fatality. With increasingly sensitive EVD diagnosis, there is a need for more accurate prognostic tools that objectively stratify clinical severity to better allocate limited resources and identify those most in need of intensive treatment. Methods/Principal Findings This retrospective cohort study analyses the clinical characteristics of 158 EVD(+) patients at the GOAL-Mathaska Ebola Treatment Centre, Sierra Leone. The prognostic potential of each characteristic was assessed and incorporated into a statistically weighted disease score. The mortality rate among EVD(+) patients was 60.8% and highest in those aged 25 years (pEbola viral load (p = 0.1), potentially indicating a pathologic synergy between the infections. Similarly, referral-time interacted with viral load, and adjustment revealed referral-time as a significant determinant of mortality, thus quantifying the benefits of early reporting as a 12% mortality risk reduction per day (p = 0.012). Disorientation was the strongest unadjusted predictor of death (OR = 13.1, p = 0.014) followed by hiccups, diarrhoea, conjunctivitis, dyspnoea and myalgia. Including these characteristics in multivariate prognostic scores, we obtained a 91% and 97% ability to discriminate death at or after triage respectively (area under ROC curve). Conclusions/Significance This study proposes highly predictive and easy-to-use prognostic tools, which stratify the risk of EVD mortality at or after EVD triage. PMID:28151955

  20. Clinical trials of new drugs for the treatment of rheumatoid arthritis: focus on early disease.

    Science.gov (United States)

    Smolen, Josef S; Collaud Basset, Sabine; Boers, Maarten; Breedveld, Ferdinand; Edwards, Christopher J; Kvien, Tore K; Miossec, Pierre; Sokka-Isler, Tuulikki; van Vollenhoven, Ronald F; Abadie, Eric C; Bruyère, Olivier; Cooper, Cyrus; Mäkinen, Heidi; Thomas, Thierry; Tugwell, Peter; Reginster, Jean-Yves

    2016-07-01

    The European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases convened a task force of experts in rheumatoid arthritis (RA) and clinical trial methodology to comment on the new draft 'Guideline on clinical investigation of medicinal products for the treatment of RA' released by the European Medicines Agency (EMA). Special emphasis was placed by the group on the development of new drugs for the treatment of early RA. In the absence of a clear definition of early RA, it was suggested that clinical investigations in this condition were conducted in disease-modifying antirheumatic drugs naïve patients with no more than 1 year disease duration. The expert group recommended using an appropriate improvement in disease activity (American College of Rheumatology (ACR) or Simplified/Clinical Disease Activity Index (SDAI/CDAI) response criteria) or low disease activity (by any score) as primary endpoints, with ACR/European League Against Rheumatism remission as a secondary endpoint. Finally, as compelling evidence showed that the Disease Acrivity Score using 28-joint counts (DAS28) might not provide a reliable definition of remission, or sometimes even low disease activity, the group suggested replacing DAS28 as a measurement instrument to evaluate disease activity in RA clinical trials. Proposed alternatives included SDAI, CDAI and Boolean criteria.

  1. Application of multivariate statistics to vestibular testing: discriminating between Meniere's disease and migraine associated dizziness

    Science.gov (United States)

    Dimitri, P. S.; Wall, C. 3rd; Oas, J. G.; Rauch, S. D.

    2001-01-01

    Meniere's disease (MD) and migraine associated dizziness (MAD) are two disorders that can have similar symptomatologies, but differ vastly in treatment. Vestibular testing is sometimes used to help differentiate between these disorders, but the inefficiency of a human interpreter analyzing a multitude of variables independently decreases its utility. Our hypothesis was that we could objectively discriminate between patients with MD and those with MAD using select variables from the vestibular test battery. Sinusoidal harmonic acceleration test variables were reduced to three vestibulo-ocular reflex physiologic parameters: gain, time constant, and asymmetry. A combination of these parameters plus a measurement of reduced vestibular response from caloric testing allowed us to achieve a joint classification rate of 91%, independent quadratic classification algorithm. Data from posturography were not useful for this type of differentiation. Overall, our classification function can be used as an unbiased assistant to discriminate between MD and MAD and gave us insight into the pathophysiologic differences between the two disorders.

  2. Clinical epidemiology of IgE-mediated cutaneous and oculo-conjunctival allergic diseases.

    Directory of Open Access Journals (Sweden)

    Giuseppe De Renzi

    2008-09-01

    Full Text Available

    Background: IgE-mediated allergic disease may clinically manifest itself with either a single symptom or a multisymptomatic disease involving different organs. In this work we investigated whether gender and age of the patients and reactivity to specific allergens are related to different clinical presentations of IgE-mediated allergic disease, considering in particular eye-conjunctival and cutaneous symptoms, alone or in combination.

    Methods: Epidemiological and clinical data related to patients of the Local Health Unit of Torino and Alessandria were collected. Measuring of specific Immunoglobulin E (IgE was carried out by using allergenic extracts and by the employment of the chemiluminescence method. Clinical outcomes were the presence of eye-conjunctival, cutaneous (with also other symptom, and only cutaneous symptoms. The covariates under study were the type of allergen (mite, epithelium, poaceae, food, trees and grasses, number and localisation of the allergic reactions, gender, age over 30 years. For each clinical outcome, a logistic regression analysis was performed. Statistical significance was set at p < 0.05.

    Results: 844 patients with allergic problems (clinical manifestations of allergic disease entered the study. We found that exposure to epithelium [OR=3,61; IC 95% (2,17; 6,00], poaceae [OR=2,24; IC 95% (1,46; 3,42], grasses [OR=2,06; IC 95% (1.35; 3,14] and age over 30 years [OR=2,05; IC 95% (1,35; 3,13] are risk factors for the development of eye-conjunctival symptoms. With regard to cutaneous allergic reactions, exposure to mite [OR=1,49; IC 95% (1,07; 2,08], food [OR=4,16; IC 95% (3,01; 5,75] and multidistrict symptoms [OR=3,63; IC 95% (2,54; 5,20] should be risk factors. Instead, considering only cutaneous reactions, possible risk factor is the exposure to food [OR=3,58; IC 95% (2,54; 5,03]. The exposure to trees is associated with a reduction of the likelihood

  3. Harnessing Cerebrospinal Fluid Biomarkers in Clinical Trials for Treating Alzheimer's and Parkinson's Diseases: Potential and Challenges

    Science.gov (United States)

    Kim, Dana; Kim, Young-Sam; Shin, Dong Wun; Park, Chang-Shin

    2016-01-01

    No disease-modifying therapies (DMT) for neurodegenerative diseases (NDs) have been established, particularly for Alzheimer's disease (AD) and Parkinson's disease (PD). It is unclear why candidate drugs that successfully demonstrate therapeutic effects in animal models fail to show disease-modifying effects in clinical trials. To overcome this hurdle, patients with homogeneous pathologies should be detected as early as possible. The early detection of AD patients using sufficiently tested biomarkers could demonstrate the potential usefulness of combining biomarkers with clinical measures as a diagnostic tool. Cerebrospinal fluid (CSF) biomarkers for NDs are being incorporated in clinical trials designed with the aim of detecting patients earlier, evaluating target engagement, collecting homogeneous patients, facilitating prevention trials, and testing the potential of surrogate markers relative to clinical measures. In this review we summarize the latest information on CSF biomarkers in NDs, particularly AD and PD, and their use in clinical trials. The large number of issues related to CSF biomarker measurements and applications has resulted in relatively few clinical trials on CSF biomarkers being conducted. However, the available CSF biomarker data obtained in clinical trials support the advantages of incorporating CSF biomarkers in clinical trials, even though the data have mostly been obtained in AD trials. We describe the current issues with and ongoing efforts for the use of CSF biomarkers in clinical trials and the plans to harness CSF biomarkers for the development of DMT and clinical routines. This effort requires nationwide, global, and multidisciplinary efforts in academia, industry, and regulatory agencies to facilitate a new era.

  4. Harnessing Cerebrospinal Fluid Biomarkers in Clinical Trials for Treating Alzheimer's and Parkinson's Diseases: Potential and Challenges.

    Science.gov (United States)

    Kim, Dana; Kim, Young Sam; Shin, Dong Wun; Park, Chang Shin; Kang, Ju Hee

    2016-10-01

    No disease-modifying therapies (DMT) for neurodegenerative diseases (NDs) have been established, particularly for Alzheimer's disease (AD) and Parkinson's disease (PD). It is unclear why candidate drugs that successfully demonstrate therapeutic effects in animal models fail to show disease-modifying effects in clinical trials. To overcome this hurdle, patients with homogeneous pathologies should be detected as early as possible. The early detection of AD patients using sufficiently tested biomarkers could demonstrate the potential usefulness of combining biomarkers with clinical measures as a diagnostic tool. Cerebrospinal fluid (CSF) biomarkers for NDs are being incorporated in clinical trials designed with the aim of detecting patients earlier, evaluating target engagement, collecting homogeneous patients, facilitating prevention trials, and testing the potential of surrogate markers relative to clinical measures. In this review we summarize the latest information on CSF biomarkers in NDs, particularly AD and PD, and their use in clinical trials. The large number of issues related to CSF biomarker measurements and applications has resulted in relatively few clinical trials on CSF biomarkers being conducted. However, the available CSF biomarker data obtained in clinical trials support the advantages of incorporating CSF biomarkers in clinical trials, even though the data have mostly been obtained in AD trials. We describe the current issues with and ongoing efforts for the use of CSF biomarkers in clinical trials and the plans to harness CSF biomarkers for the development of DMT and clinical routines. This effort requires nationwide, global, and multidisciplinary efforts in academia, industry, and regulatory agencies to facilitate a new era.

  5. Clinical pharmacology in leishmaniasis: treatment optimization of a neglected disease

    NARCIS (Netherlands)

    Dorlo, T.P.C.

    2013-01-01

    This thesis presents various novel applications of clinical pharmacokinetics and pharmacodynamics in the treatment of leishmaniasis, by which diverse clinically relevant issues, mainly related to the efficacy and safety of miltefosine, could be elucidated. Throughout this thesis, the added value of

  6. Evaluation of Methacholine Challenge Test Results in Chronic Cough Patients Referring to Clinic of Pulmonary Disease

    Directory of Open Access Journals (Sweden)

    Derakhshan Deilami Gholamreza

    2009-10-01

    Full Text Available Chronic cough is a common problem in patients visiting physicians and its prevalence in different populations range from 3 to 40%. Postnasal drip, asthma and gastroesophageal reflux are the known cause of chronic cough. Although diagnosis of asthma is usually made by clinical signs and spirometeric results, methacholine challenge test is a good diagnostic test in patients who show normal physical examination and spirometeric results. In this study, the results of methacholine challenge test in chronic cough patients are investigated. This is a cross sectional study performed on patients suffering from chronic cough (over 8 weeks, who went to Pulmonary Disease Clinic of Imam Khomeini Hospital in 2006. Postnasal drip, gastroesophageal reflux was evaluated and ruled out in all patients. Then they were tested by methacholine inhalation using low to high doses of methacholine. The results of test was defined as 20% fall in FEV1 and its relationship with age, sex, history of allergic disease, family history of asthma and smoking status was investigated. 81 patients (36 female and 45 male entered this study who had mean age of 32.5 ± 13.06 years. 81.5% of patients had never smoked or closed contact with smokers, 6.2% were passive smokers, 8.6% were smokers and 3.7% had quit smoking. 37% had suffered from chronic cough less than 6 months, 11% for 6-11 months and 52% for more than 12 months. In 26% of patients, family history of asthma was present and 34.5% had a history of one type of allergy. In 29.5% the results of methacholine challenge test was positive, among them 45.8% showed an intense response and 54.2% a moderate response. The test results and its intensity had no statistically significant relationship with age, sex, smoking status, the duration of cough and family history of asthma, but the relationship between methacholine challenge test and the history of allergic disease was significant. Methacholine challenge test can be used as a

  7. Comparative effectiveness studies to improve clinical outcomes in end stage renal disease: the DEcIDE patient outcomes in end stage renal disease study

    Directory of Open Access Journals (Sweden)

    Boulware Ebony L

    2012-12-01

    Full Text Available Abstract Background Evidence is lacking to inform providers’ and patients’ decisions about many common treatment strategies for patients with end stage renal disease (ESRD. Methods/design The DEcIDE Patient Outcomes in ESRD Study is funded by the United States (US Agency for Health Care Research and Quality to study the comparative effectiveness of: 1 antihypertensive therapies, 2 early versus later initiation of dialysis, and 3 intravenous iron therapies on clinical outcomes in patients with ESRD. Ongoing studies utilize four existing, nationally representative cohorts of patients with ESRD, including (1 the Choices for Healthy Outcomes in Caring for ESRD study (1041 incident dialysis patients recruited from October 1995 to June 1999 with complete outcome ascertainment through 2009, (2 the Dialysis Clinic Inc (45,124 incident dialysis patients initiating and receiving their care from 2003–2010 with complete outcome ascertainment through 2010, (3 the United States Renal Data System (333,308 incident dialysis patients from 2006–2009 with complete outcome ascertainment through 2010, and (4 the Cleveland Clinic Foundation Chronic Kidney Disease Registry (53,399 patients with chronic kidney disease with outcome ascertainment from 2005 through 2009. We ascertain patient reported outcomes (i.e., health-related quality of life, morbidity, and mortality using clinical and administrative data, and data obtained from national death indices. We use advanced statistical methods (e.g., propensity scoring and marginal structural modeling to account for potential biases of our study designs. All data are de-identified for analyses. The conduct of studies and dissemination of findings are guided by input from Stakeholders in the ESRD community. Discussion The DEcIDE Patient Outcomes in ESRD Study will provide needed evidence regarding the effectiveness of common treatments employed for dialysis patients. Carefully planned dissemination strategies to the

  8. Hand eczema : clinical efficacy of interventions, and burden of disease

    NARCIS (Netherlands)

    Coevorden, Anthony Marco van

    2005-01-01

    Hand eczema is considered a common disease. The exact prevalences however, are unknown. Studies estimate a point prevalence of 1 to 5% among adults in the general population, and a one-year prevalence of up to 10%, depending on whether the disease definition includes more pronounced or mild cases. H

  9. Asynchronous onset of clinical disease in BSE-infected macaques.

    Science.gov (United States)

    Montag, Judith; Schulz-Schaeffer, Walter; Schrod, Annette; Hunsmann, Gerhard; Motzkus, Dirk

    2013-07-01

    To estimate the effect of the variability of prion disease onset on primary bovine spongiform encephalopathy transmission to humans, we studied 6 cynomolgus macaques. The preclinical incubation period was significantly prolonged in 2 animals, implying that onset of variant Creutzfeldt-Jacob disease in humans could be more diverse than previously expected.

  10. Clinical speech impairment in Parkinson′s disease, progressive supranuclear palsy, and multiple system atrophy

    Directory of Open Access Journals (Sweden)

    Sachin S

    2008-01-01

    Full Text Available Context: Speech abnormalities are common to the three Parkinsonian syndromes, namely Parkinson′s disease (PD, progressive supranuclear palsy (PSP and multiple system atrophy (MSA, the nature and severity of which is of clinical interest and diagnostic value. Aim: To evaluate the clinical pattern of speech impairment in patients with PD, PSP and MSA and to identify significant differences on quantitative speech parameters when compared to controls. Design and Setting: Cross-sectional study conducted in a tertiary medical teaching institute. Materials and Methods: Twenty-two patients with PD, 18 patients with PSP and 20 patients with MSA and 10 age-matched healthy controls were recruited over a period of 1.5 years. The patients were clinically evaluated for the presence and characteristics of dysarthria. This was followed by quantitative assessment of three parameters: maximum phonation time (MPT, semantic fluency and reading speed. The outcome measures were compared between the patient groups and with controls. Results: Patients with PD had hypophonic monotonous speech with occasional rushes of speech while patients with MSA and PSP had mixed dysarthria with ataxic and spastic elements respectively. All quantitative parameters were affected when compared to controls ( P values < 0.001, 0.012 and 0.008 respectively. Maximum phonation time was significantly less in PSP when compared to MSA and PD ( P =0.015. Reading speed also showed a similar trend which was not statistically significant. Semantic fluency was comparable in all three groups. Conclusion: Dysarthria in PD, PSP and MSA have many overlapping but certain distinctive features as well which could serve as a diagnostic clue. Patients with PSP had profound speech impairment probably indicative of the more severe frontostriatial pathology.

  11. Clinical signs, magnetic resonance imaging findings and outcome in 77 cats with vestibular disease: a retrospective study.

    Science.gov (United States)

    Negrin, Arianna; Cherubini, Giunio B; Lamb, Chris; Benigni, Livia; Adams, Vicky; Platt, Simon

    2010-04-01

    Medical records of 77 cats that had clinical signs of vestibular disease and magnetic resonance imaging (MRI) of the head were reviewed retrospectively. The aetiological, clinical and MRI characteristics were described and evaluated for a relationship with patient outcome. Forty cats (52%) had signs of central vestibular dysfunction (CVD), which was part of a multifocal disease in 17 cats (43%). The most frequent causes of CVD were inflammatory conditions (18 cats; 45%), including bacterial inflammation as an intracranial extension of otitis interna (five cats; 13%), feline infectious peritonitis (three cats; 8%) and toxoplasmosis (two cats; 5%). Neoplasia (12 cats; 30%) and vascular disease (four cats; 10%) were respectively the second and the third most frequent causes of CVD. Thiamine deficiency was diagnosed in one cat based on MRI findings and improvement following vitamin B(1) supplementation. Of 37 cats (48%) with peripheral vestibular dysfunction (PVD), idiopathic vestibular syndrome (IVS) was suspected in 16 (43%) and otitis media/interna was suspected in 16 (43%). Within the group of cats with evident MRI lesions, the location of the imaged lesions agreed with the clinical classification of vestibular dysfunction in 52/55 (95%) cats. Most of the cats (nine cases; 56%) with presumed IVS had rapid and complete recovery of their clinical signs. As most of these cats presented with progressive clinical signs over 3 weeks they were classified as having 'atypical' IVS to differentiate them from cats with the typical non-progressive IVS. No underlying systemic diseases were documented in any of these cases. Statistically significant predictors of survival included neurolocalisation (central or peripheral vestibular system), age and gender. No difference in survival was observed between cats with presumed idiopathic peripheral syndrome and cats with otitis media/interna.

  12. Statistical issues encountered in the comparison of health-related quality of life in diseased patients to published general population norms: problems and solutions.

    Science.gov (United States)

    Rose, M S; Koshman, M L; Spreng, S; Sheldon, R

    1999-05-01

    The objectives of this study were (1) to illustrate the statistical problems encountered when comparing health-related quality of life (HRQL) measured by the Medical Outcome Study Short Form-36 (SF-36) in a diseased group to general population norms, and (2) to define age- and gender-standardized dichotomous indicator variables for each health concept and show that these indicator variables facilitate comparisons between the diseased sample and the general population. Our "diseased" group consisted of 136 sequentially consenting patients referred to the syncope clinic for assessment and treatment. Participants completed the SF-36 questionnaire before undergoing diagnostic testing. General population norms for the SF-36 are available from the responses of 2474 participants in the National Survey of Functional Health Status, conducted in 1990 in the United States. Comparison of the SF-36 in a diseased sample with general population norms is difficult, owing to skewed and unusual distributions in both groups. In addition, making comparisons within age and gender strata is difficult if the within strata sample size is small. We propose a dichotomous indicator variable for each health concept that classifies an individual as having impaired health if he or she scored lower than the 25th percentile for the appropriate age and gender general population strata. By definition, the prevalence of impaired health in the general population is 25% for all eight health concepts. Comparison between the eight health-concept variables is easy because the population norm is the same for each of them. These indicator variables are age and gender adjusted, so that even if the sample did not have the age and gender distribution as the general population, comparisons can still be made with the value of 25.

  13. Computerized clinical decision support systems for chronic disease management: A decision-maker-researcher partnership systematic review

    Directory of Open Access Journals (Sweden)

    Navarro Tamara

    2011-08-01

    Full Text Available Abstract Background The use of computerized clinical decision support systems (CCDSSs may improve chronic disease management, which requires recurrent visits to multiple health professionals, ongoing disease and treatment monitoring, and patient behavior modification. The objective of this review was to determine if CCDSSs improve the processes of chronic care (such as diagnosis, treatment, and monitoring of disease and associated patient outcomes (such as effects on biomarkers and clinical exacerbations. Methods We conducted a decision-maker-researcher partnership systematic review. We searched MEDLINE, EMBASE, Ovid's EBM Reviews database, Inspec, and reference lists for potentially eligible articles published up to January 2010. We included randomized controlled trials that compared the use of CCDSSs to usual practice or non-CCDSS controls. Trials were eligible if at least one component of the CCDSS was designed to support chronic disease management. We considered studies 'positive' if they showed a statistically significant improvement in at least 50% of relevant outcomes. Results Of 55 included trials, 87% (n = 48 measured system impact on the process of care and 52% (n = 25 of those demonstrated statistically significant improvements. Sixty-five percent (36/55 of trials measured impact on, typically, non-major (surrogate patient outcomes, and 31% (n = 11 of those demonstrated benefits. Factors of interest to decision makers, such as cost, user satisfaction, system interface and feature sets, unique design and deployment characteristics, and effects on user workflow were rarely investigated or reported. Conclusions A small majority (just over half of CCDSSs improved care processes in chronic disease management and some improved patient health. Policy makers, healthcare administrators, and practitioners should be aware that the evidence of CCDSS effectiveness is limited, especially with respect to the small number and size of studies

  14. A study on specialist or special disease clinics based on big data.

    Science.gov (United States)

    Fang, Zhuyuan; Fan, Xiaowei; Chen, Gong

    2014-09-01

    Correlation analysis and processing of massive medical information can be implemented through big data technology to find the relevance of different factors in the life cycle of a disease and to provide the basis for scientific research and clinical practice. This paper explores the concept of constructing a big medical data platform and introduces the clinical model construction. Medical data can be collected and consolidated by distributed computing technology. Through analysis technology, such as artificial neural network and grey model, a medical model can be built. Big data analysis, such as Hadoop, can be used to construct early prediction and intervention models as well as clinical decision-making model for specialist and special disease clinics. It establishes a new model for common clinical research for specialist and special disease clinics.

  15. [Clinical evaluation of thrombo-embolic venous disease].

    Science.gov (United States)

    Chagnon, Isabelle

    2003-01-01

    Clinical manifestations of venous thromboembolism are often subtle or misleading. Yet it is a potentially fatal condition. Although the symptoms and signs at presentation have a poor sensitivity and specificity when considered singly, the physician can accurately assess a clinical probability based on the history, the risk factors, the physical examination and some simple laboratory exams. This essential step allows us to identify a low risk group of patients which will benefit of a non invasive diagnostic strategy. More recently explicit prediction rules were proposed to offset the lack of standardization of this clinical assessment. These new didactic tools can simplify clinical evaluation. Nevertheless, their comparison to implicit evaluation reveals that they should be complemented by the physician's judgement.

  16. Statistical methods in translational medicine.

    Science.gov (United States)

    Chow, Shein-Chung; Tse, Siu-Keung; Lin, Min

    2008-12-01

    This study focuses on strategies and statistical considerations for assessment of translation in language (e.g. translation of case report forms in multinational clinical trials), information (e.g. translation of basic discoveries to the clinic) and technology (e.g. translation of Chinese diagnostic techniques to well-established clinical study endpoints) in pharmaceutical/clinical research and development. However, most of our efforts will be directed to statistical considerations for translation in information. Translational medicine has been defined as bench-to-bedside research, where a basic laboratory discovery becomes applicable to the diagnosis, treatment or prevention of a specific disease, and is brought forth by either a physicianscientist who works at the interface between the research laboratory and patient care, or by a team of basic and clinical science investigators. Statistics plays an important role in translational medicine to ensure that the translational process is accurate and reliable with certain statistical assurance. Statistical inference for the applicability of an animal model to a human model is also discussed. Strategies for selection of clinical study endpoints (e.g. absolute changes, relative changes, or responder-defined, based on either absolute or relative change) are reviewed.

  17. Evidence-based early clinical detection of emerging diseases in food animals and zoonoses: two cases.

    Science.gov (United States)

    Saegerman, Claude; Humblet, Marie-France; Porter, Sarah Rebecca; Zanella, Gina; Martinelle, Ludovic

    2012-03-01

    If diseases of food-producing animals or zoonoses (re-)emerge, early clinical decision making is of major importance. In this particular condition, it is difficult to apply a classic evidence-based veterinary medicine process, because of a lack of available published data. A method based on the partition of field clinical observations (evidences) could be developed as an interesting alternative approach. The classification and regression tree (CART) analysis was used to improve the early clinical detection in two cases of emerging diseases: bovine spongiform encephalopathy (mad cow disease) and bluetongue due to the serotype 8-virus in cattle.

  18. Update on Medical Management of Clinical Manifestations of Chronic Kidney Disease.

    Science.gov (United States)

    Quimby, Jessica M

    2016-11-01

    Dysregulation of normal kidney functions in chronic kidney disease (CKD) leads to several pathophysiologic abnormalities that have the potential to significantly clinically affect the CKD patient. This article discusses the clinical impact of hypertension, hypokalemia, anemia, dysrexia, nausea/vomiting, and constipation in the CKD patient and therapies for these conditions. These clinical manifestations of disease may not occur in every patient and may also develop later during the progression of disease. Therefore, monitoring for, identifying, and addressing these factors is considered an important part of the medical management of CKD.

  19. Metabolic syndrome in rheumatic diseases: epidemiology, pathophysiology, and clinical implications.

    Science.gov (United States)

    Sidiropoulos, Prodromos I; Karvounaris, Stylianos A; Boumpas, Dimitrios T

    2008-01-01

    Subjects with metabolic syndrome--a constellation of cardiovascular risk factors of which central obesity and insulin resistance are the most characteristic--are at increased risk for developing diabetes mellitus and cardiovascular disease. In these subjects, abdominal adipose tissue is a source of inflammatory cytokines such as tumor necrosis factor-alpha, known to promote insulin resistance. The presence of inflammatory cytokines together with the well-documented increased risk for cardiovascular diseases in patients with inflammatory arthritides and systemic lupus erythematosus has prompted studies to examine the prevalence of the metabolic syndrome in an effort to identify subjects at risk in addition to that conferred by traditional cardiovascular risk factors. These studies have documented a high prevalence of metabolic syndrome which correlates with disease activity and markers of atherosclerosis. The correlation of inflammatory disease activity with metabolic syndrome provides additional evidence for a link between inflammation and metabolic disturbances/vascular morbidity.

  20. The clinical spectrum and treatment of Lyme disease.

    Science.gov (United States)

    Steere, A. C.; Malawista, S. E.; Bartenhagen, N. H.; Spieler, P. N.; Newman, J. H.; Rahn, D. W.; Hutchinson, G. J.; Green, J.; Snydman, D. R.; Taylor, E.

    1984-01-01

    Lyme disease was recognized as a separate entity because of close geographic clustering of affected children in Lyme, Connecticut, with what was thought to be juvenile rheumatoid arthritis. It then became apparent that Lyme disease is a complex, multisystem disorder. The illness usually begins in summer with erythema chronicum migrans and associated symptoms (stage 1). Weeks to months later, some patients develop neurologic or cardiac abnormalities (stage 2), and weeks to years later, many patients develop intermittent attacks of arthritis (stage 3), which may become chronic, with erosion of cartilage and bone. Patients with severe and prolonged illness have an increased frequency of the B-cell alloantigen, DR2. For patients with early Lyme disease, tetracycline appears to be the most effective drug, then penicillin, and finally erythromycin. High-dose intravenous penicillin is effective for the later stages of the disease. Images FIG. 1 FIG. 2 PLATE I PLATE II PMID:6516448

  1. Clinical considerations for an effective medical therapy in Wilson's disease.

    Science.gov (United States)

    Weiss, Karl Heinz; Stremmel, Wolfgang

    2014-05-01

    Wilson's disease is an autosomal recessively inherited copper overload disorder that leads to hepatic and/or neurologic symptoms. More than a century after the first description of Wilson's disease, the available medical treatment options have not been standardized. The efficacy of the commonly used drugs is satisfactory for hepatic disease, but disappointing in the neurologic patients, including the risk of neurologic deterioration after the initiation of chelation therapy. An approach to overcome this problem is the careful and systematic assessment of biochemical response patterns and the quantitative monitoring of symptoms using validated rating scales. Standardized dosage strategies that address changes in copper pools might improve adherence and reduce side effects. Such an approach may reduce long-term morbidity. In this paper, we discuss considerations for an effective medical treatment and requirements for future studies in Wilson's disease.

  2. Refsum disease. Clinical and morphological report on a case.

    Science.gov (United States)

    Savettieri, G; Camarda, R; Galatioto, S; Bonavita, V

    1982-10-01

    An atypical case of Refsum disease is reported together with the peripheral nerve morphological data. The body fluids must be assayed for phytanic acid whenever an atypical chronic peripheral neuropathy is observed.

  3. Statistical Analysis in Dental Research Papers.

    Science.gov (United States)

    1983-08-08

    Clinical Trials of Agents used in the Prevention and Treatment of Periodontal Diseases (5). Standards sumary data must be included statistical methods...situations under clinical conditions. Research: qualitative research, as in joint tomography , where the results and conclusions are not amenable to

  4. α-Synuclein oligomers and clinical implications for Parkinson disease

    OpenAIRE

    Kalia, Lorraine V.; Kalia, Suneil K; McLean, Pamela J.; Lozano, Andres M.; Lang, Anthony E

    2012-01-01

    Protein aggregation within the central nervous system has been recognized as a defining feature of neurodegenerative diseases since the early 20th century. Since that time, there has been a growing list of neurodegenerative disorders, including Parkinson disease, which are characterized by inclusions of specific pathogenic proteins. This has led to the long-held dogma that these characteristic protein inclusions, which are composed of large insoluble fibrillar protein aggregates and visible b...

  5. Minocycline-induced clinical and biological lupus-like disease.

    Science.gov (United States)

    Tournigand, C; Généreau, T; Prudent, M; Diemert, M C; Herson, S; Chosidow, O

    1999-01-01

    A 14-year-old girl developed maculopapular rash, myalgias, arthralgias and myocarditis with elevated anti-nuclear and anti-double-stranded DNA antibodies. She was taking minocycline for acne and all symptoms resolved when this treatment was stopped. The patient has no evidence of disease one year after onset of symptoms. Clinicians should be aware of minocycline's responsibility in inducing lupus-like disease.

  6. THE CLINICAL PRESENTATION OF AUTOIMMUNE THYROID DISEASE IN MEN IS ASSOCIATED WITH IL12B GENOTYPE

    DEFF Research Database (Denmark)

    Walsh, John P; Berry, Jemma; Liu, Shu;

    2011-01-01

    hypothesized that IL12B genotype may influence the clinical presentation of autoimmune thyroid disease. Objective.  We tested for differences in IL12B genotype between Graves' disease and Hashimoto's disease. Patients.  We studied a discovery cohort of 203 Australian women and 37 men with autoimmune thyroid......' disease (P=0.005) and Hashimoto's disease (P=0.029). Conclusion.  In men with autoimmune thyroid disease, a common variant located upstream of the IL12B coding region may influence whether patients present with Graves' disease or Hashimoto's disease.......Background.  Common variants in the interleukin 12B (IL12B) gene are associated with predominantly inflammatory (Th1) or antibody-mediated (Th2) immune responses. Since Hashimoto's disease and Graves' disease are thought to arise from mainly Th1 and Th2 immune responses respectively, we...

  7. Clinical pharmacy activities in chronic kidney disease and end-stage renal disease patients: a systematic literature review

    Directory of Open Access Journals (Sweden)

    Stemer Gunar

    2011-07-01

    Full Text Available Abstract Background Chronic kidney disease (CKD and end-stage renal disease (ESRD represent worldwide health problems with an epidemic extent. Therefore, attention must be given to the optimisation of patient care, as gaps in the care of CKD and ESRD patients are well documented. As part of a multidisciplinary patient care strategy, clinical pharmacy services have led to improvements in patient care. The purpose of this study was to summarise the available evidence regarding the role and impact of clinical pharmacy services for these patient populations. Methods A literature search was conducted using the Medline, Embase and International Pharmaceutical Abstracts databases to identify relevant studies on the impact of clinical pharmacists on CKD and ESRD patients, regarding disease-oriented and patient-oriented outcomes, and clinical pharmacist interventions on drug-related problems. Results Among a total of 21 studies, only four (19% were controlled trials. The majority of studies were descriptive (67% and before-after studies (14%. Interventions comprised general clinical pharmacy services with a focus on detecting, resolving and preventing drug-related problems, clinical pharmacy services with a focus on disease management, or clinical pharmacy services with a focus on patient education in order to increase medication knowledge. Anaemia was the most common comorbidity managed by clinical pharmacists, and their involvement led to significant improvement in investigated disease-oriented outcomes, for example, haemoglobin levels. Only four of the studies (including three controlled trials presented data on patient-oriented outcomes, for example, quality of life and length of hospitalisation. Studies investigating the number and type of clinical pharmacist interventions and physician acceptance rates reported a mean acceptance rate of 79%. The most common reported drug-related problems were incorrect dosing, the need for additional

  8. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

    Directory of Open Access Journals (Sweden)

    Jérôme Stirnemann

    2017-02-01

    Full Text Available Gaucher disease (GD, ORPHA355 is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions, is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD—but also carriers of GBA1 mutation—have been found to be predisposed to developing Parkinson’s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase. Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat.

  9. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

    Science.gov (United States)

    Stirnemann, Jérôme; Belmatoug, Nadia; Camou, Fabrice; Serratrice, Christine; Froissart, Roseline; Caillaud, Catherine; Levade, Thierry; Astudillo, Leonardo; Serratrice, Jacques; Brassier, Anaïs; Rose, Christian; Billette de Villemeur, Thierry; Berger, Marc G

    2017-02-17

    Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD-but also carriers of GBA1 mutation-have been found to be predisposed to developing Parkinson's disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat).

  10. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

    Science.gov (United States)

    Stirnemann, Jérôme; Belmatoug, Nadia; Camou, Fabrice; Serratrice, Christine; Froissart, Roseline; Caillaud, Catherine; Levade, Thierry; Astudillo, Leonardo; Serratrice, Jacques; Brassier, Anaïs; Rose, Christian; Billette de Villemeur, Thierry; Berger, Marc G.

    2017-01-01

    Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD—but also carriers of GBA1 mutation—have been found to be predisposed to developing Parkinson’s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat). PMID:28218669

  11. Linkage analyses in type I diabetes mellitus using CASPAR, a software and statistical program for conditional analysis of polygenic diseases.

    Science.gov (United States)

    Buhler, J; Owerbach, D; Schäffer, A A; Kimmel, M; Gabbay, K H

    1997-01-01

    We have developed software and statistical tools for linkage analysis of polygenic diseases. We use type I diabetes mellitus (insulin-dependent diabetes mellitus, IDDM) as our model system. Two susceptibility loci (IDDM1 on 6p21 and IDDM2 on 11p15) are well established, and recent genome searches suggest the existence of other susceptibility loci. We have implemented CASPAR, a software tool that makes it possible to test for linkage quickly and efficiently using multiple polymorphic DNA markers simultaneously in nuclear families consisting of two unaffected parents and a pair of affected siblings (ASP). We use a simulation-based method to determine whether lod scores from a collection of ASP tests are significant. We test our new software and statistical tools to assess linkage of IDDM5 and IDDM7 conditioned on analyses with 1 or 2 other unlinked type I diabetes susceptibility loci. The results from the CASPAR analysis suggest that conditioning of IDDM5 on IDDM1 and IDDM4, and of IDDM7 on IDDM1 and IDDM2 provides significant benefits for the genetic analysis of polygenic loci.

  12. Clinical significance of complement as a biomarker of disease activity in 4 cases of IgG4-related disease with retroperitoneal fibrosis.

    Science.gov (United States)

    Kihara, Mari; Sugihara, Takahiko; Hosoya, Tadashi; Miyasaka, Nobuyuki

    2013-01-01

    Hypocomplementaemia is frequently observed in IgG4-related diseases, however the clinical significance is unclear. We describe herein the clinical courses of 4 patients with IgG4-related disease with hypocomplementaemia. Our cases showed autoimmune pancreatitis, retroperitoneal fibrosis, Mikulicz's disease, interstitial lung disease, lymphadenopathy and mesenteric fibrosis around the aorta. A decrease in serum complement preceded deterioration of the disease and clinical improvement was observed in accordance with normalisation of serum complement. These clinical courses suggest that serum complement is a biomarker of the disease activity.

  13. Clinical and radiological correlations in patients with gestational trophoblastic disease

    Energy Technology Data Exchange (ETDEWEB)

    Lima, Lana de Lourdes Aguiar; Parente, Raphael Camara Medeiros; Amim Junior, Joffre; Rezende Filho, Jorge Fonte de; Montenegro, Carlos Antonio Barbosa; Braga, Antonio, E-mail: lanalima@hotmail.com [Universidade Federal do Rio de Janeiro (UFRJ), RJ (Brazil); Maesta, Izildinha [Universidade Estadual Paulista Julio de Mesquita Filho (UNESP), Botucatu, SP (Brazil). Faculdade de Medicina

    2016-07-15

    Gestational trophoblastic disease is an abnormality of pregnancy that encompasses a group of diseases that differ from each other in their propensity for regression, invasion, metastasis, and recurrence. In the past, it was common for patients with molar pregnancy to present with marked symptoms: copious bleeding; theca lutein cysts; uterus larger than appropriate for gestational age; early preeclampsia; hyperemesis gravidarum; and hyperthyroidism. Currently, with early diagnosis made by ultrasound, most patients are diagnosed while the disease is still in the asymptomatic phase. In cases of progression to trophoblastic neoplasia, staging-typically with Doppler flow studies of the pelvis and chest X-ray, although occasionally with computed tomography or magnetic resonance imaging-is critical to the choice of an appropriate antineoplastic therapy regimen. Because it is an unusual and serious disease that affects women of reproductive age, as well as because its appropriate treatment results in high cure rates, it is crucial that radiologists be familiar with gestational trophoblastic disease, in order to facilitate its early diagnosis and to ensure appropriate follow-up imaging. (author)

  14. Clinical and radiological correlations in patients with gestational trophoblastic disease

    Directory of Open Access Journals (Sweden)

    Lana de Lourdes Aguiar Lima

    Full Text Available Abstract Gestational trophoblastic disease is an abnormality of pregnancy that encompasses a group of diseases that differ from each other in their propensity for regression, invasion, metastasis, and recurrence. In the past, it was common for patients with molar pregnancy to present with marked symptoms: copious bleeding; theca lutein cysts; uterus larger than appropriate for gestational age; early preeclampsia; hyperemesis gravidarum; and hyperthyroidism. Currently, with early diagnosis made by ultrasound, most patients are diagnosed while the disease is still in the asymptomatic phase. In cases of progression to trophoblastic neoplasia, staging-typically with Doppler flow studies of the pelvis and chest X-ray, although occasionally with computed tomography or magnetic resonance imaging-is critical to the choice of an appropriate antineoplastic therapy regimen. Because it is an unusual and serious disease that affects women of reproductive age, as well as because its appropriate treatment results in high cure rates, it is crucial that radiologists be familiar with gestational trophoblastic disease, in order to facilitate its early diagnosis and to ensure appropriate follow-up imaging.

  15. Clinical and radiological correlations in patients with gestational trophoblastic disease*

    Science.gov (United States)

    Lima, Lana de Lourdes Aguiar; Parente, Raphael Câmara Medeiros; Maestá, Izildinha; Amim Junior, Joffre; de Rezende Filho, Jorge Fonte; Montenegro, Carlos Antonio Barbosa; Braga, Antônio

    2016-01-01

    Gestational trophoblastic disease is an abnormality of pregnancy that encompasses a group of diseases that differ from each other in their propensity for regression, invasion, metastasis, and recurrence. In the past, it was common for patients with molar pregnancy to present with marked symptoms: copious bleeding; theca lutein cysts; uterus larger than appropriate for gestational age; early preeclampsia; hyperemesis gravidarum; and hyperthyroidism. Currently, with early diagnosis made by ultrasound, most patients are diagnosed while the disease is still in the asymptomatic phase. In cases of progression to trophoblastic neoplasia, staging-typically with Doppler flow studies of the pelvis and chest X-ray, although occasionally with computed tomography or magnetic resonance imaging-is critical to the choice of an appropriate antineoplastic therapy regimen. Because it is an unusual and serious disease that affects women of reproductive age, as well as because its appropriate treatment results in high cure rates, it is crucial that radiologists be familiar with gestational trophoblastic disease, in order to facilitate its early diagnosis and to ensure appropriate follow-up imaging. PMID:27777478

  16. Clinical Characteristics of Down Syndrome Children With Congenital Heart Disease in a Developing Country

    Directory of Open Access Journals (Sweden)

    Mottaghi Moghaddam

    2015-11-01

    Full Text Available Background Down syndrome (DS is the most common chromosomal abnormality in newborns and is associated with other congenital malformations and health problems. The features of Down syndrome differ according to ethnicity and geographic region. Objectives The main aim was to assess the clinical characteristics of DS patients in a referral pediatric cardiology department. Patients and Methods In this cross-sectional study, we assessed the clinical characteristics of children with Down syndrome and heart defects in an educational hospital over 11 years (from September 2001 to September 2012 in Iran. All data were collected according to a checklist created by the researchers, which included the clinical information, genetic characteristics, cardiac and non-cardiac co-existing diseases, and parental variables of the children. An independent t-test and a chi-square test were used to compare qualitative variables such as birth weight and age of diagnosis. P < 0.05 was considered statistically significant. Results 100 patients with Down syndrome and congenital heart disease were evaluated; 52 were female (52% and 48 were male (48%. The average birth weight of the subjects was 2745 ± 523 (mean ± SD grams. The mean age of the patients’ mothers was 32 ± 6 years, and the mean age of the patients’ fathers was 36 ± 6 years. Chromosomal analysis was performed for 61 patients, 60 of whom had free trisomy (98.4%, one of whom had translocation (1.6%, and none of whom had a mosaic pattern of chromosomal abnormality. The parents of 33 the patients in this study were consanguineous. All patients had cardiac disorders, but non-cardiac disorder also was recorded in 37 patients (37%. The most common non-cardiac disorder in patients was hypothyroidism, and the second most common was gastrointestinal problems. Conclusions Parents were blood relatives in 33 (33% of the patient cases, which is a very high rate. Therefore, non-random mating is an important issue in

  17. The clinical implications of thalidomide in inflammatory bowel diseases.

    Science.gov (United States)

    Diamanti, Antonella; Capriati, Teresa; Papadatou, Bronislava; Knafelz, Daniela; Bracci, Fiammetta; Corsetti, Tiziana; Elia, Domenica; Torre, Giuliano

    2015-06-01

    Thalidomide has anti-inflammatory and anti-angiogenetic activity that makes it suitable for treating inflammatory bowel diseases (IBD). The recent guidelines from the European Crohn's and Colitis Organization/European Society for Pediatric Gastroenterology Hepatology and Nutrition conclude that thalidomide cannot be recommended in refractory pediatric Crohn's disease but that it may be considered in selected cohorts of patients who are not anti-TNFα agent responders. The main adverse effect is the potential teratogenicity that renders the long-term use of thalidomide problematic in young adults due to the strict need for contraceptive use. In short-term use it is relatively safe; the most likely adverse effect is the neuropathy, which is highly reversible in children. So far the use of thalidomide is reported in 223 adult and pediatric IBD patients (206 with Crohn's disease). In the following sections, the authors will discuss efficacy and safety of thalidomide, in the short-term treatment of IBD.

  18. Encephalopathy associated with autoimmune thyroid disease in patients with Graves' disease: clinical manifestations, follow-up, and outcomes

    Directory of Open Access Journals (Sweden)

    Lee Byung I

    2010-04-01

    Full Text Available Abstract Background The encephalopathy associated with autoimmune thyroid disease (EAATD is characterized by neurological/psychiatric symptoms, high levels of anti-thyroid antibodies, increased cerebrospinal fluid protein concentration, non-specific electroencephalogram abnormalities, and responsiveness to the corticosteroid treatment in patients with an autoimmune thyroid disease. Almost all EAATD patients are affected by Hashimoto's thyroiditis (HT, although fourteen EAATD patients with Graves' disease (GD have been also reported. Methods We have recorded and analyzed the clinical, biological, radiological, and electrophysiological findings and the data on the therapeutic management of all GD patients with EAATD reported so far as well as the clinical outcomes in those followed-up in the long term. Results Twelve of the fourteen patients with EAATD and GD were women. The majority of GD patients with EAATD presented with mild hyperthyroidism at EAATD onset or shortly before it. Active anti-thyroid autoimmunity was detected in all cases. Most of the patients dramatically responded to corticosteroids. The long term clinical outcome was benign but EAATD can relapse, especially at the time of corticosteroid dose tapering or withdrawal. GD and HT patients with EAATD present with a similar clinical, biological, radiological, and electrophysiological picture and require an unaffected EAATD management. Conclusions GD and HT equally represent the possible background condition for the development of EAATD, which should be considered in the differential diagnosis of all patients with encephalopathy of unknown origin and an autoimmune thyroid disease, regardless of the nature of the underlying autoimmune thyroid disease.

  19. Encephalopathy associated with autoimmune thyroid disease in patients with Graves' disease: clinical manifestations, follow-up, and outcomes.

    LENUS (Irish Health Repository)

    Tamagno, Gianluca

    2012-02-01

    BACKGROUND: The encephalopathy associated with autoimmune thyroid disease (EAATD) is characterized by neurological\\/psychiatric symptoms, high levels of anti-thyroid antibodies, increased cerebrospinal fluid protein concentration, non-specific electroencephalogram abnormalities, and responsiveness to the corticosteroid treatment in patients with an autoimmune thyroid disease. Almost all EAATD patients are affected by Hashimoto\\'s thyroiditis (HT), although fourteen EAATD patients with Graves\\' disease (GD) have been also reported. METHODS: We have recorded and analyzed the clinical, biological, radiological, and electrophysiological findings and the data on the therapeutic management of all GD patients with EAATD reported so far as well as the clinical outcomes in those followed-up in the long term. RESULTS: Twelve of the fourteen patients with EAATD and GD were women. The majority of GD patients with EAATD presented with mild hyperthyroidism at EAATD onset or shortly before it. Active anti-thyroid autoimmunity was detected in all cases. Most of the patients dramatically responded to corticosteroids. The long term clinical outcome was benign but EAATD can relapse, especially at the time of corticosteroid dose tapering or withdrawal. GD and HT patients with EAATD present with a similar clinical, biological, radiological, and electrophysiological picture and require an unaffected EAATD management. CONCLUSIONS: GD and HT equally represent the possible background condition for the development of EAATD, which should be considered in the differential diagnosis of all patients with encephalopathy of unknown origin and an autoimmune thyroid disease, regardless of the nature of the underlying autoimmune thyroid disease.

  20. Encephalopathy associated with autoimmune thyroid disease in patients with Graves' disease: clinical manifestations, follow-up, and outcomes

    LENUS (Irish Health Repository)

    Tamagno, Gianluca

    2010-04-28

    Abstract Background The encephalopathy associated with autoimmune thyroid disease (EAATD) is characterized by neurological\\/psychiatric symptoms, high levels of anti-thyroid antibodies, increased cerebrospinal fluid protein concentration, non-specific electroencephalogram abnormalities, and responsiveness to the corticosteroid treatment in patients with an autoimmune thyroid disease. Almost all EAATD patients are affected by Hashimoto\\'s thyroiditis (HT), although fourteen EAATD patients with Graves\\' disease (GD) have been also reported. Methods We have recorded and analyzed the clinical, biological, radiological, and electrophysiological findings and the data on the therapeutic management of all GD patients with EAATD reported so far as well as the clinical outcomes in those followed-up in the long term. Results Twelve of the fourteen patients with EAATD and GD were women. The majority of GD patients with EAATD presented with mild hyperthyroidism at EAATD onset or shortly before it. Active anti-thyroid autoimmunity was detected in all cases. Most of the patients dramatically responded to corticosteroids. The long term clinical outcome was benign but EAATD can relapse, especially at the time of corticosteroid dose tapering or withdrawal. GD and HT patients with EAATD present with a similar clinical, biological, radiological, and electrophysiological picture and require an unaffected EAATD management. Conclusions GD and HT equally represent the possible background condition for the development of EAATD, which should be considered in the differential diagnosis of all patients with encephalopathy of unknown origin and an autoimmune thyroid disease, regardless of the nature of the underlying autoimmune thyroid disease.

  1. Encephalopathy associated with autoimmune thyroid disease in patients with Graves' disease: clinical manifestations, follow-up, and outcomes.

    LENUS (Irish Health Repository)

    Tamagno, Gianluca

    2010-01-01

    BACKGROUND: The encephalopathy associated with autoimmune thyroid disease (EAATD) is characterized by neurological\\/psychiatric symptoms, high levels of anti-thyroid antibodies, increased cerebrospinal fluid protein concentration, non-specific electroencephalogram abnormalities, and responsiveness to the corticosteroid treatment in patients with an autoimmune thyroid disease. Almost all EAATD patients are affected by Hashimoto\\'s thyroiditis (HT), although fourteen EAATD patients with Graves\\' disease (GD) have been also reported. METHODS: We have recorded and analyzed the clinical, biological, radiological, and electrophysiological findings and the data on the therapeutic management of all GD patients with EAATD reported so far as well as the clinical outcomes in those followed-up in the long term. RESULTS: Twelve of the fourteen patients with EAATD and GD were women. The majority of GD patients with EAATD presented with mild hyperthyroidism at EAATD onset or shortly before it. Active anti-thyroid autoimmunity was detected in all cases. Most of the patients dramatically responded to corticosteroids. The long term clinical outcome was benign but EAATD can relapse, especially at the time of corticosteroid dose tapering or withdrawal. GD and HT patients with EAATD present with a similar clinical, biological, radiological, and electrophysiological picture and require an unaffected EAATD management. CONCLUSIONS: GD and HT equally represent the possible background condition for the development of EAATD, which should be considered in the differential diagnosis of all patients with encephalopathy of unknown origin and an autoimmune thyroid disease, regardless of the nature of the underlying autoimmune thyroid disease.

  2. Clinical features of adult patients with Eisenmenger syndrome associated with different types of congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    陈果

    2013-01-01

    Objective To explore the clinical features and hemodynamics of adult patients with Eisenmenger syndrome in different types of congenital heart diseases (CHD) .Methods Patients with Eisenmenger syndrome with different types of CHD diagnosed by right heart

  3. Development of criteria for evaluating clinical response in thyroid eye disease using a modified Delphi technique

    DEFF Research Database (Denmark)

    Douglas, Raymond S; Tsirbas, Angelo; Gordon, Mark;

    2009-01-01

    OBJECTIVE: To identify components of a provisional clinical response index for thyroid eye disease using a modified Delphi technique. METHODS: The International Thyroid Eye Disease Society conducted a structured, 3-round Delphi exercise establishing consensus for a core set of measures for clinical...... exercise, we developed provisional core measures for assessing disease activity and severity in clinical trials of therapies for thyroid eye disease. These measures will be iteratively refined for use in multicenter clinical trials.......% of participants) rated 153 criteria in Delphi 3 (67 criteria were excluded because of redundancy). Criteria with a mean greater than 6 (1 = least appropriate to 9 = most appropriate) were further evaluated by the nominal group technique and provisional core measures were chosen. CONCLUSIONS: Using a Delphi...

  4. Clinical characteristics of patients with gastroesophageal reflux disease in several centers of Northwest China

    Institute of Scientific and Technical Information of China (English)

    高麦仓

    2013-01-01

    Objective To investigate the clinical characteristics of gastroesophageal reflux disease (GERD) in several endoscopy centers of Northwest China.Methods From September 2008 to September 2009,a questionnaire survey was carried out in the endoscopy centers of four hospitals

  5. Clinical Application of {sup 18}F-FDG PET in Alzheimer's Disease

    Energy Technology Data Exchange (ETDEWEB)

    Ryu, Young Hoon [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2008-12-15

    PET of the cerebral metabolic rate of glucose is increasingly used to support the clinical diagnosis in the examination of patients with suspected major neurodegenerative disorders, such as Alzheimer's disease. {sup 18}F-FDG PET has been reported to have high diagnostic performance, especially, very high sensitivity in the diagnosis and clinical assessment of therapeutic efficacy. According to clinical research data hitherto, {sup 18}F-FDG PET is expected to be an effective diagnostic tool in early and differential diagnosis of Alzheimer's disease. Since 2004, Medicare covers {sup 18}F-FDG PET scans for the differential diagnosis of fronto-temporal dementia (FTD) and Alzheimer's disease (AD) under specific requirements; or, its use in a CMS approved practical clinical trial focused on the utility of {sup 18}F-FDG PET in the diagnosis or treatment of dementing neurodegenerative diseases.

  6. Clinical Presentation and Patient Evaluation in Nonalcoholic Fatty Liver Disease.

    Science.gov (United States)

    Patel, Vaishali; Sanyal, Arun J; Sterling, Richard

    2016-05-01

    Nonalcoholic fatty liver disease (NAFLD) is a diagnosis of exclusion. Most patients are asymptomatic and diagnosed incidentally. Most patients remain undiagnosed. A high index of suspicion and serologic work-up to rule out alternative causes of liver disease is required. In NALFD, fibrosis correlates with outcomes, including mortality. To diagnose, assess severity, and monitor fibrosis, 2 noninvasive methods can be used. However, noninvasive tests are more helpful at extremes of fibrosis: excluding it or diagnosing advanced fibrosis. Liver biopsy is usually reserved for cases whereby noninvasive tests fail to accurately determine the degree of fibrosis or the diagnosis is unclear.

  7. Clinical analysis of primary small intestinal disease:A report of 309 cases

    Institute of Scientific and Technical Information of China (English)

    Jun Zhan; Zhong-Sheng Xia; Ying-Qiang Zhong; Shi-Neng Zhang; Lin-Yun Wang; Hong Shu; Zhao-Hua Zhu

    2004-01-01

    AIM: To evaluate the major clinical symptom, etiology, and diagnostic method in patients with primary small intestinal disease in order to improve the diagnosis.METHODS: A total of 309 cases with primary small intestinal disease were reviewed, and the major clinical symptoms,etiology, and diagnostic methods were analyzed.RESULTS: The major clinical symptoms included abdominal pain (71%), abdominal mass (14%), vomiting (10%),melaena (10%), and fever (9%). The most common disease were malignant tumor (40%). diverticulum (32%) and benign tumor (10%). Duodenal disease was involved in 36% of the patients with primary small intestinal diseases. The diagnostic rate for primary small intestinal diseases by double-contrast enteroclysis was 85.6%.CONCLUSION: Abdominal pain is the most common clinical symptom in patients with primary small intestinal disease.Malignant tumors are the most common diseases. Duodenum was the most common part involved in small intestine.Double-contrast enteroclysis was still the simplest and the most available examination method in diagnosis of primary small intestinal disease. However, more practical diagnostic method should be explored to improve the diagnostic accuracy.

  8. Application of a biochemical and clinical model to predict individual survival in patients with end-stage liver disease

    Institute of Scientific and Technical Information of China (English)

    Eduardo Vilar Gomez; Luis Calzadilla Bertot; Bienvenido Gra Oramas; Enrique Arus Soler; Raimundo Llanio Navarro; Javier Diaz Elias; Oscar Villa Jiménez; Maria del Rosario Abreu Vazquez

    2009-01-01

    AIM:To investigate the capability of a biochemical and clinical model,BioCliM,in predicting the survival of cirrhotic patients.METHODS:We prospectively evaluated the survival of 172 cirrhotic patients.The model was constructed using clinical (ascites,encephalopathy and variceal bleeding) and biochemical (serum creatinine and serum total bilirubin) variables that were selected from a Cox proportional hazards model.It was applied to estimate 12-,52- and 104-wk survival.The model's calibration using the Hosmer-Lemeshow statistic was computed at 104 wk in a validation dataset.Finally,the model's validity was tested among an independent set of 85 patients who were stratified into 2 risk groups (low risk ≤8 and high risk>8).RESULTS:In the validation cohort,all measures of fit,discrimination and calibration were improved when the biochemical and clinical model was used.The proposed model had better predictive values (c-statistic:0.90,0.91,0.91) than the Model for End-stage Liver Disease (MELD) and Child-Pugh (CP) scores for 12-,52- and 104-wk mortality,respectively.In addition,the Hosmer-Lemeshow (H-L) statistic revealed that the biochemical and clinical model (H-L,4.69) is better calibrated than MELD (H-L,17.06) and CP (H-L,14.23).There were no significant differences between the observed and expected survival curves in the stratified risk groups (low risk,P=0.61;high risk,P=0.77).CONCLUSION:Our data suggest that the proposed model is able to accurately predict survival in cirrhotic patients.

  9. [Clinical guideline for detection and diagnosis of hypertensive pregnancy disease].

    Science.gov (United States)

    Lagunes-Espinosa, Alma Luisa; Ríos-Castillo, Brenda; Peralta-Pedrero, María Luisa; del Rocío Cruz-Cruz, Polita; Sánchez-Ambríz, Slivia; Sánchez-Santana, Joaquín Renato; Ramírez-Mota, Carolina; Zavaleta-Vargas, Norma Octavia; López-Cisneros, Gabriela

    2011-01-01

    Hypertensive disorders in pregnancy (HDP) are the main complication and cause of maternal and perinatal death. Pre-eclampsia represents a 34%, according to the Secretaría de Salud de México. To offer the family physicians tools for the opportune detection and diagnosis of HDP a clinical guideline was developmented. Clinical questions were formulated and structured. A standardized sequence to search for Practice Guidelines, based on the key words: hypertensive disorders in pregnancy, pre-eclampsia. Tripdatabase, MDConsult, National Guideline Clearinghouse, Scottish Intercollegiate Guidelines Network, National Institute for Health and Clinical Excellence were used. In addition, Cochrane Library Plus, Science Direct and OVID were used. Most of the recommendations were taken from guidelines selected and supplemented with the remaining material. The information is expressed in levels of evidence and grade of recommendation according to the characteristics of the study design and type of publications. To reduce morbidity and mortality from HDP health professionals should identify risk factors; conduct a close monitoring and early diagnosis. It is essential to provide information to the pregnant patient on alarm data and behavior to follow. This clinical practice guide offers current evidence for screening and diagnosis of HDP in primary care.

  10. Statistical-techniques-based computer-aided diagnosis (CAD) using texture feature analysis: application in computed tomography (CT) imaging to fatty liver disease

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Woon-Kwan [Chosun University, Gwangju (Korea, Republic of); Park, Hyong-Hu [Bong-Seng Memorial Hospital, Busan (Korea, Republic of); Im, In-Chul; Lee, Jae-Seung [Dong-eui University, Busan (Korea, Republic of); Goo, Eun-Hoe [Cheong-ju University, Cheongju (Korea, Republic of); Dong, Kyung-Rae [Gwangju Health College University, Gwangju (Korea, Republic of); Chosun University, Gwangju (Korea, Republic of)

    2012-09-15

    This paper proposes a computer-aided diagnosis (CAD) system based on texture feature analysis and statistical wavelet transformation technology to diagnose fatty liver disease with computed tomography (CT) imaging. In the target image, a wavelet transformation was performed for each lesion area to set the region of analysis (ROA, window size: 50 x 50 pixels) and define the texture feature of a pixel. Based on the extracted texture feature values, six parameters (average gray level, average contrast, relative smoothness, skewness, uniformity, and entropy) were determined to calculate the recognition rate for a fatty liver. In addition, a multivariate analysis of the variance (MANOVA) method was used to perform a discriminant analysis to verify the significance of the extracted texture feature values and the recognition rate for a fatty liver. According to the results, each texture feature value was significant for a comparison of the recognition rate for a fatty liver (p < 0.05). Furthermore, the F-value, which was used as a scale for the difference in recognition rates, was highest in the average gray level, relatively high in the skewness and the entropy, and relatively low in the uniformity, the relative smoothness and the average contrast. The recognition rate for a fatty liver had the same scale as that for the F-value, showing 100% (average gray level) at the maximum and 80% (average contrast) at the minimum. Therefore, the recognition rate is believed to be a useful clinical value for the automatic detection and computer-aided diagnosis (CAD) using the texture feature value. Nevertheless, further study on various diseases and singular diseases will be needed in the future.

  11. Statistical-techniques-based computer-aided diagnosis (CAD) using texture feature analysis: application in computed tomography (CT) imaging to fatty liver disease

    Science.gov (United States)

    Chung, Woon-Kwan; Park, Hyong-Hu; Im, In-Chul; Lee, Jae-Seung; Goo, Eun-Hoe; Dong, Kyung-Rae

    2012-09-01

    This paper proposes a computer-aided diagnosis (CAD) system based on texture feature analysis and statistical wavelet transformation technology to diagnose fatty liver disease with computed tomography (CT) imaging. In the target image, a wavelet transformation was performed for each lesion area to set the region of analysis (ROA, window size: 50 × 50 pixels) and define the texture feature of a pixel. Based on the extracted texture feature values, six parameters (average gray level, average contrast, relative smoothness, skewness, uniformity, and entropy) were determined to calculate the recognition rate for a fatty liver. In addition, a multivariate analysis of the variance (MANOVA) method was used to perform a discriminant analysis to verify the significance of the extracted texture feature values and the recognition rate for a fatty liver. According to the results, each texture feature value was significant for a comparison of the recognition rate for a fatty liver ( p < 0.05). Furthermore, the F-value, which was used as a scale for the difference in recognition rates, was highest in the average gray level, relatively high in the skewness and the entropy, and relatively low in the uniformity, the relative smoothness and the average contrast. The recognition rate for a fatty liver had the same scale as that for the F-value, showing 100% (average gray level) at the maximum and 80% (average contrast) at the minimum. Therefore, the recognition rate is believed to be a useful clinical value for the automatic detection and computer-aided diagnosis (CAD) using the texture feature value. Nevertheless, further study on various diseases and singular diseases will be needed in the future.

  12. C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases

    Directory of Open Access Journals (Sweden)

    Paulo Victor Sgobbi de Souza

    2015-03-01

    Full Text Available Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. In the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.

  13. Clinical Use and Mechanisms of Infliximab Treatment on Inflammatory Bowel Disease: A Recent Update

    OpenAIRE

    Yuan Guo; Nonghua Lu; Aiping Bai

    2013-01-01

    The pathogenesis and treatment of inflammatory bowel disease (IBD) have been recently advanced, while it is still challenged with high morbidity and poor prognosis. Infliximab, a monoclonal antibody of tumor necrosis factor (TNF), has emerged as an efficient treatment with many clinical benefits such as quick disease activity reduction and IBD patient life quality improvement. However, the biological effects of infliximab on IBD need to be elucidated. This paper reviewed the clinical use and ...

  14. Clinical predictors of cognitive impairment and psychiatric complications in Parkinson’s disease

    OpenAIRE

    Campos, Lidiane S.; Guimarães, Rachel P.; Piovesana, Luiza G.; Azevedo,Paula C. de; Leonilda M B Santos; Anelyssa D’Abreu

    2015-01-01

    Objective To estimate the clinical and demographics aspects that may contribute to cognitive impairment and psychiatric symptoms in Parkinson’s disease (PD). Method All patients answered a structured standardized clinical questionnaire. Two movement disorders specialists performed the following scale: Unified Parkinson’s disease rating score (UPDRS), the modified Hoehn and Yahr staging, Schwab and England Scale, SCOPA cognition (SCOPA-COG), SCOPA-Psychiatric complications (SCOPA-PC) and Non-M...

  15. Clinical outcomes of end stage renal disease and adequacy of adult maintenance hemodialysis patients

    OpenAIRE

    Ismail Mahmud Ali, Amirthalingam R

    2014-01-01

    Background & Aim: End stage renal disease (ESRD) is an irreversible loss of kidney function caused by various risk factors and affected persons of lives mainly depending on the technology of renal replacement therapy (RRT) or renal transplantation (RT) to sustain the life. Aim of this study is to overview the clinical outcomes of ESRD and adequacy of maintenance hemodialysis among the patients. Materials & Methods: Currently, there are sixty two end stage renal disease patient’s clinical data...

  16. [Clinical and diagnostic considerations on degenerative spino-cerebellar diseases. A clinical and instrumental description of 2 cases].

    Science.gov (United States)

    Trebini, F; Appiotti, A; Scarzella, G

    1990-11-01

    Two cases of spino-cerebellar heredoataxia are reported. The first patient, aged 18, presented the clinical peculiarities of Friedreich's disease; subjected to encephalic CT and encephalomedullary NMR the proved normal; EMG study and visual, acoustic and somatosensorial evoked potentials were not normal but there was nothing specifically wrong. The second patient, aged 30, followed up for more than 10 years, presented the clinical aspects of Pierre Marie disease; stress is laid on encephalic CT examinations carried out at the age of 20 and 30. These were pathological due to the marked dilatation of the IVth ventricle and the basal cisternae; evoked potential changes were aspecific. The nosography is discussed, especially as regards clinical diagnosis, in the absence of typical neuroradiological or other instrumental aspects and, obviously, in the absence of anatomopathological signs.

  17. Musculo-skeletal system and connective tissue diseases in Kirgizia children: changes of statistical TOC \\o "1-5" \\h \\z indices (1995-2000

    Directory of Open Access Journals (Sweden)

    T Y Petrovskaya

    2005-01-01

    Full Text Available Analysis of statistical indices of annual State accounts Kirgizia Ministry of public health for 1995-2000 showed increase of musculoskeletal diseases morbidity on 25,93% and prevalence - on 32,62% among children. General prevalence of rheumatoid arthritis and connective tissue diseases among children increased to 1999 on 38,43% and number of newly recorded cases to 2000 decreased on 14,69%. In structure of rheumatic diseases in rheumatological department of Institute of obstetrics and pediatrics increased part of joint and spine degenerative diseases. In 2001 such pts constituted 47,8% of all pts with musculoskeletal diseases in that department.

  18. Spatial and Temporal Statistical Modeling of Hand, Foot, and Mouth Disease and its Characteristics in China: A Review

    Directory of Open Access Journals (Sweden)

    Guihua Ma

    2015-06-01

    Full Text Available Background: Hand, foot, and mouth disease (HFMD has been reported in all 31 provinces of mainland China and has become one of the most common infectious diseases in China. Here we review its spatial and temporal patterns in China and related statistical modeling. Methods: We systematically reviewed the literature on the epidemic characteristics and related models proposed to reveal its spatial and temporal patterns of HFMD in mainland China. Results: In mainland China, HFMD is usually caused by enterovirus 71 (EV71 and coxsackievirus A16 (Cox A16. The incidence of HFMD had one or two peaks in a year and presented obvious seasonality. The incidence rate of HFMD was associated with geographical factors, social factors and meteorological variables but it was different in some areas. In most regions of China, the incidence of HFMD was not a random distribution and presented a complex regularity. In this paper, we summarized the spatial autocorrelation analysis, spatial-temporal clustering analysis and time series analysis to the spatial and temporal distribution of HFMD. Conclusions: The spatial and temporal analysis can provide important information and contribute to development of effective measurements to control and prevent its transmission.

  19. Statistical evaluation of essential/toxic metal levels in the blood of valvular heart disease patients in comparison with controls.

    Science.gov (United States)

    Ilyas, Asim; Shah, Munir H

    2017-02-28

    The present study was designed to investigate the role of selected essential and toxic metals in the onset/prognosis of valvular heart disease (VHD). Nitric acid-perchloric acid based wet digestion procedure was used for the quantification of the metals by flame atomic absorption spectrophotometry. Comparative appraisal of the data revealed that average levels of Cd, Co, Cr, Fe, K, Li, Mn and Zn were significantly higher in blood of VHD patients, while the average concentration of Ca was found at elevated level in controls (P < 0.05). However, Cu, Mg, Na, Sr and Pb depicted almost comparable levels in the blood of both donor groups. The correlation study revealed significantly different mutual associations among the metals in the blood of VHD patients compared with the controls. Multivariate statistical methods showed substantially divergent grouping of the metals for the patients and controls. Some significant differences in the metal concentrations were also observed with gender, abode, dietary/smoking habits and occupations of both donor groups. Overall, the study demonstrated that disproportions in the concentrations of essential/toxic metals in the blood are involved in pathogenesis of the disease.

  20. Clinical expression of Menkes disease in females with normal karyotype

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Lenartowicz, Malgorzata; Zabot, Marie-Therese;

    2012-01-01

    Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X inactivation, and they are rarely affected. In the largest cohort of MD...

  1. Clinical evaluation of stress thallium spect in ischemic heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Sui, Osamu; Kimura, Nazuna; Soeki; Takeshi; Takeichi, Naoki; Shinohara, Hisanori; Tamura, Yoshiyuki; Fukuda, Nobuo [Zentsuji National Hospital, Kagawa (Japan)

    1997-05-01

    Thallium SPECT was performed in patients with significant coronary artery stenosis, 67 cases were after maximal exercise and 74 cases were during coronary vasodilation induced by ATP (adenosine triphosphate) infusion. In patients suspected of angina pectoris, the sensitivity, specificity and predictive accuracy for detection of coronary artery disease (CAD) were 88%, 78% and 82% for exercise SPECT, and 100%, 72% and 84% for ATP SPECT studies, respectively. In patients with old myocardial infarction, these were 73%, 100% and 88% for exercise SPECT and 71%, 100% and 81% for ATP SPECT. These were 75%, 49% and 60% for treadmill exercise test in the patient group including both angina and myocardial infarction. For detection of diseased vessels, the diagnostic accuracy for left anterior descending artery and right coronary artery lesions was almost equal for ATP and exercise SPECT study, but ATP SPECT study was more sensitive than exercise SPECT study in detection of left circumflex artery lesions. ATP as well as exercise SPECT studies occasionally gave false positive results in patients with single-vessel disease. ATP as well as exercise SPECT studies underestimated the severity of multi-vessel disease. In general, the results of ATP SPECT imaging were highly concordant with the results of exercise SPECT imaging. ATP stress thallium SPECT imaging provided a safe and highly accurate diagnostic tool for detection of CAD. (author)

  2. Clinical and surgical aspects of Hirschsprung’s disease

    NARCIS (Netherlands)

    Schulten - Vieira Travassos, D.

    2011-01-01

    Hirschsprung’s disease is an important cause of intestinal obstruction or constipation in newborns and children. It is characterized by lack of ganglion cells extending from distal in the internal anal sphincter to proximal in the colon or small bowel for a variable distance caused by arrest of migr

  3. Postpartum Acute Pulmonary Oedema with Sub clinical Rheumatic Heart Disease

    OpenAIRE

    2015-01-01

    Acute dyspnea with pulmonary oedema in postpartum is uncommon but life-threatening event. Contributing factors for pulmonary oedema include, administration of tocolytics, underlying cardiac disease, iatrogenic fluid overload and preeclampsia acounting 0.08% of pregnancies. Pulmonary embolism, amniotic fluid embolism, pneumonia, aspiration and pulmonary oedema are some of the potentially devastating conditions that should be considered by the attending physician.

  4. Relationship between Genomic Types of Escherichia coli and Clinical Diseases

    Institute of Scientific and Technical Information of China (English)

    Meiying YI; Ruen LIU; Hanju HUANG

    2008-01-01

    In this study, by analysis of genome structures of E. coli, the relationships Between the genomic types of E. coli and the associated diseases were investigated. Samples of sputum, urine and other excretions from patients with different infective diseases were collected. And 62 E. coli strains were isolated from these samples. Intact bacterial genomic DNA was cleaved with I-CeuI, separated by pulsed field gel electrophoresis and then typed on the basis of cleavage map. The results showed that 7 I-CeuI sites were found in all the genome structures of the 62 E. coli, indicating that there were 7 rrn operons in the genomes. The size of genome ranged from 4500 kb to 5000 kb. According to thegenome structures, 62 E. coli strains were divided into 30 genome types. It was concluded that genome structures of E. coli isolated from the patients with different infective diseases varied to some extent, suggesting that some genome types of E. coli were closely related to some infective diseases.

  5. Beryllium Lymphocyte Proliferation Test Surveillance Identifies Clinically Significant Beryllium Disease

    Science.gov (United States)

    Mroz, Margaret M.; Maier, Lisa A.; Strand, Matthew; Silviera, Lori; Newman, Lee S.

    2011-01-01

    Background Workplace surveillance identifies chronic beryllium disease (CBD) but it remains unknown over what time frame mild CBD will progress to a more severe form. Methods We examined physiology and treatment in 229 beryllium sensitization (BeS) and 171 CBD surveillance-identified cases diagnosed from 1982 to 2002. Never smoking CBD cases (81) were compared to never smoking BeS patients (83) to assess disease progression. We compared CBD machinists to non-machinists to examine effects of exposure. Results At baseline, CBD and BeS cases did not differ significantly in exposure time or physiology. CBD patients were more likely to have machined beryllium. Of CBD cases, 19.3% went on to require oral immunosuppressive therapy. At 30 years from first exposure, measures of gas exchange were significantly worse and total lung capacity was lower for CBD subjects. Machinists had faster disease progression as measured by pulmonary function testing and gas exchange. Conclusions Medical surveillance for CBD identifies individuals at significant risk of disease progression and impairment with sufficient time since first exposure. PMID:19681064

  6. A clinical perspective of obesity, metabolic syndrome and cardiovascular disease.

    Science.gov (United States)

    Han, Thang S; Lean, Mike Ej

    2016-01-01

    The metabolic syndrome is a condition characterized by a special constellation of reversible major risk factors for cardiovascular disease and type 2 diabetes. The main, diagnostic, components are reduced HDL-cholesterol, raised triglycerides, blood pressure and fasting plasma glucose, all of which are related to weight gain, specifically intra-abdominal/ectopic fat accumulation and a large waist circumference. Using internationally adopted arbitrary cut-off values for waist circumference, having metabolic syndrome doubles the risk of cardiovascular disease, but offers an effective treatment approach through weight management. Metabolic syndrome now affects 30-40% of people by age 65, driven mainly by adult weight gain, and by a genetic or epigenetic predisposition to intra-abdominal/ectopic fat accumulation related to poor intra-uterine growth. Metabolic syndrome is also promoted by a lack of subcutaneous adipose tissue, low skeletal muscle mass and anti-retroviral drugs. Reducing weight by 5-10%, by diet and exercise, with or without, anti-obesity drugs, substantially lowers all metabolic syndrome components, and risk of type 2 diabetes and cardiovascular disease. Other cardiovascular disease risk factors such as smoking should be corrected as a priority. Anti-diabetic agents which improve insulin resistance and reduce blood pressure, lipids and weight should be preferred for diabetic patients with metabolic syndrome. Bariatric surgery offers an alternative treatment for those with BMI ≥ 40 or 35-40 kg/m(2) with other significant co-morbidity. The prevalence of the metabolic syndrome and cardiovascular disease is expected to rise along with the global obesity epidemic: greater emphasis should be given to effective early weight-management to reduce risk in pre-symptomatic individuals with large waists.

  7. A clinical perspective of obesity, metabolic syndrome and cardiovascular disease

    Directory of Open Access Journals (Sweden)

    Thang S Han

    2016-02-01

    Full Text Available The metabolic syndrome is a condition characterized by a special constellation of reversible major risk factors for cardiovascular disease and type 2 diabetes. The main, diagnostic, components are reduced HDL-cholesterol, raised triglycerides, blood pressure and fasting plasma glucose, all of which are related to weight gain, specifically intra-abdominal/ectopic fat accumulation and a large waist circumference. Using internationally adopted arbitrary cut-off values for waist circumference, having metabolic syndrome doubles the risk of cardiovascular disease, but offers an effective treatment approach through weight management. Metabolic syndrome now affects 30–40% of people by age 65, driven mainly by adult weight gain, and by a genetic or epigenetic predisposition to intra-abdominal/ectopic fat accumulation related to poor intra-uterine growth. Metabolic syndrome is also promoted by a lack of subcutaneous adipose tissue, low skeletal muscle mass and anti-retroviral drugs. Reducing weight by 5–10%, by diet and exercise, with or without, anti-obesity drugs, substantially lowers all metabolic syndrome components, and risk of type 2 diabetes and cardiovascular disease. Other cardiovascular disease risk factors such as smoking should be corrected as a priority. Anti-diabetic agents which improve insulin resistance and reduce blood pressure, lipids and weight should be preferred for diabetic patients with metabolic syndrome. Bariatric surgery offers an alternative treatment for those with BMI ≥ 40 or 35–40 kg/m2 with other significant co-morbidity. The prevalence of the metabolic syndrome and cardiovascular disease is expected to rise along with the global obesity epidemic: greater emphasis should be given to effective early weight-management to reduce risk in pre-symptomatic individuals with large waists.

  8. Clinical effects of erdosteine in the treatment of acute respiratory tract diseases in children.

    Science.gov (United States)

    Balli, F; Bergamini, B; Calistru, P; Ciofu, E P; Domenici, R; Doros, G; Dragomir, D; Gherghina, I; Iordachescu, F; Murgoci, G; Orasanu, D; Plesca, D; Vaccaro, A; Assereto, R

    2007-01-01

    Erdosteine has positive effects on mucus rheology and transport due to the active metabolite (Metabolite I) which contains a free thiol group. Erdosteine inhibits bacterial adhesiveness and has antioxidant properties. A synergistic effect of erdosteine with various antibiotics has been demonstrated in pharmacological and clinical studies. The present study was multicenter, randomized, double-blind and placebo-controlled. The aims of the study were to compare a combination of erdosteine with amoxicillin against an amoxicillin-placebo combination in pediatric patients with acute lower respiratory tract disease. A total of 158 patients (78 in the erdosteine group and 80 in the placebo group) were treated for 7 +/- 2 days. The efficacy parameters were cough (primary), polypnea, rhonchi, rales and body temperature (all measured at baseline, on Day 3 and at the end of treatment). Safety was assessed by strictly monitoring the occurrence of adverse events and using standard laboratory parameters. The results of the intention-to-treat analysis showed that the severity of cough was decreased by 47% at Day 3 in the erdosteine group with a statistically significant difference compared to placebo, the difference was still significant at the final visit. The decrease in the severity of rales was significantly greater at Day 3 in the erdosteine group than in the placebo group. The incidence of polypnea and rhonchi in the two groups showed similar decreases, an improvement mainly due to the antibiotic. No adverse events occurred and no adverse changes in laboratory parameters were observed. It is concluded that the combination of erdosteine and amoxicillin is a safe medication which is clinically superior to that of the antibiotic combined with placebo, especially in regard to the effects on cough.

  9. Synovitis and osteitis are very frequent in rheumatoid arthritis clinical remission: results from an MRI study of 294 patients in clinical remission or low disease activity state

    DEFF Research Database (Denmark)

    Gandjbakhch, Frédérique; Conaghan, Philip G; Ejbjerg, Bo;

    2011-01-01

    In rheumatoid arthritis (RA), radiographic progression may occur despite clinical remission. This may be explained by subclinical inflammation. Magnetic resonance imaging (MRI) provides a greater sensitivity than clinical examination and radiography for assessing disease activity. Our objective w...... was to determine the MRI characteristics of RA patients in clinical remission or low disease activity (LDA) state....

  10. Nutrition-Related Cardiovascular Disease Risk Factors In Chronic Kidney Disease: Relationship With Clinical Outcome

    Directory of Open Access Journals (Sweden)

    Emma McMahon

    2012-06-01

    Traditional CV-risk factors in this CKD population were not associated with clinical outcome. Despite being within clinical reference range, serum phosphate and albumin were independently associated with clinical outcome. This may highlight a potential therapeutic target for risk management to delay or prevent renal end-points in CKD.

  11. Fully automated atlas-based hippocampal volumetry for detection of Alzheimer's disease in a memory clinic setting.

    Science.gov (United States)

    Suppa, Per; Anker, Ulrich; Spies, Lothar; Bopp, Irene; Rüegger-Frey, Brigitte; Klaghofer, Richard; Gocke, Carola; Hampel, Harald; Beck, Sacha; Buchert, Ralph

    2015-01-01

    Hippocampal volume is a promising biomarker to enhance the accuracy of the diagnosis of dementia due to Alzheimer's disease (AD). However, whereas hippocampal volume is well studied in patient samples from clinical trials, its value in clinical routine patient care is still rather unclear. The aim of the present study, therefore, was to evaluate fully automated atlas-based hippocampal volumetry for detection of AD in the setting of a secondary care expert memory clinic for outpatients. One-hundred consecutive patients with memory complaints were clinically evaluated and categorized into three diagnostic groups: AD, intermediate AD, and non-AD. A software tool based on open source software (Statistical Parametric Mapping SPM8) was employed for fully automated tissue segmentation and stereotactical normalization of high-resolution three-dimensional T1-weighted magnetic resonance images. Predefined standard masks were used for computation of grey matter volume of the left and right hippocampus which then was scaled to the patient's total grey matter volume. The right hippocampal volume provided an area under the receiver operating characteristic curve of 84% for detection of AD patients in the whole sample. This indicates that fully automated MR-based hippocampal volumetry fulfills the requirements for a relevant core feasible biomarker for detection of AD in everyday patient care in a secondary care memory clinic for outpatients. The software used in the present study has been made freely available as an SPM8 toolbox. It is robust and fast so that it is easily integrated into routine workflow.

  12. Clinical and Epidemiological Clinical and Epidemiological Characteristics of Colloid Goiter Patients Undergoing Reoperation for Recurrent Thyroid Disease

    Directory of Open Access Journals (Sweden)

    Gladys Iglesias Díaz

    2015-11-01

    Full Text Available Background: thyroid disease is one of the most prevalent medical conditions and thyroid cancer is the most common endocrine neoplasm. Thyroid reoperations are more common than it might seem.Objective: to establish the clinical and epidemiological characteristics of patients operated on for colloid goiter undergoing reoperation for recurrent thyroid disease.Methods: a case-series study was conducted at the León Cuervo Rubio Clinical-Surgical Hospital in Pinar del Rio. The sample included all patients (n = 29 who underwent thyroid operation and were reoperated on for recurrent thyroid disease in 2010, 2011 and 2012. The information was obtained from medical records and the register of histopathological diagnoses.Results: most patients (27.6% were in the 40-49 age group and females (79.3% were most affected. Recurrence was observed 5 to 9 years after surgery. Mixed nodules (55.2% followed by cysts (17.2% were the most frequent ultrasound diagnoses. Recurrent thyroid disease was malignant in 9% of patients.Conclusions: patients reoperated on for thyroid disease were mostly females in the fourth and fifth decade of life. The disease recurred in a period of 10 years after the first surgery in a greater number of cases. Follicular-patterned lesions, colloid goiter and cancer were the most common histologic diagnosis.

  13. Awareness of cognitive deficits and clinical competence in mild to moderate Alzheimer's disease: their relevance in clinical practice.

    Science.gov (United States)

    Gambina, G; Bonazzi, A; Valbusa, V; Condoleo, M T; Bortolami, O; Broggio, E; Sala, F; Moretto, G; Moro, V

    2014-03-01

    Awareness of cognitive deficits and clinical competence were investigated in 79 mild to moderate Alzheimer's disease patients. Awareness was assessed by the anosognosia questionnaire for dementia, and clinical competence by specific neuropsychological tests such as trail making test-A, Babcock story recall test, semantic and phonemic verbal fluency. The findings show that 66 % of the patients were aware of memory deficits, while the 34 % were unaware. Deficit in awareness correlated with lower scores on the Mini Mental State Examination test that, in the score range from 24.51 to 30 and from 19.50 to 24.50, appeared to be a significant predictor of level of awareness. None of the AD patients had fully preserved clinical competence, only 7 patients (9 %) had partially preserved clinical competence and 72 patients (91 %) had completely lost clinical competence. All the patients with partially preserved clinical competence (9 %) were aware of their memory deficit. The study indicates that neuropsychological tests used for the assessment of executive functions are not suitable for investigating clinical competence. Therefore, additional and specific tools for the evaluation of clinical competence are necessary. Indeed, these might allow clinicians to identify AD patients who, despite their deficits in selected functions, retain their autonomy of choice as well as recognize those patients who should proceed to the nomination of a legal representative.

  14. National Priority Setting of Clinical Practice Guidelines Development for Chronic Disease Management.

    Science.gov (United States)

    Jo, Heui-Sug; Kim, Dong Ik; Oh, Moo-Kyung

    2015-12-01

    By November 2013, a total of 125 clinical practice guidelines (CPGs) have been developed in Korea. However, despite the high burden of diseases and the clinical importance of CPGs, most chronic diseases do not have available CPGs. Merely 83 CPGs are related to chronic diseases, and only 40 guidelines had been developed in the last 5 yr. Considering the rate of the production of new evidence in medicine and the worsening burden from chronic diseases, the need for developing CPGs for more chronic diseases is becoming increasingly pressing. Since 2011, the Korean Academy of Medical Sciences and the Korea Centers for Disease Control and Prevention have been jointly developing CPGs for chronic diseases. However, priorities have to be set and resources need to be allocated within the constraint of a limited funding. This study identifies the chronic diseases that should be prioritized for the development of CPGs in Korea. Through an objective assessment by using the analytic hierarchy process and a subjective assessment with a survey of expert opinion, high priorities were placed on ischemic heart disease, cerebrovascular diseases, Alzheimer's disease and other dementias, osteoarthritis, neck pain, chronic kidney disease, and cirrhosis of the liver.

  15. Granulomatous prostatitis: clinical and histomorphologic survey of the disease in a tertiary care hospital

    Directory of Open Access Journals (Sweden)

    Prakriti Shukla

    2017-03-01

    Conclusion: Despite present-day advances in imaging modalities and serological investigations, it is virtually impossible to identify granulomatous prostatitis clinically. Histopathology remains the gold standard in diagnosing the disease. However, assigning an etiologic cause to the wide spectrum of granulomas in granulomatous prostatitis requires a pathologist’s expertise and proper clinical correlation for appropriate patient management.

  16. Clinical management of ebola virus disease in the United States and Europe

    NARCIS (Netherlands)

    Uyeki, Timothy M.; Mehta, Aneesh K.; Davey, Richard T.; Liddell, Allison M.; Wolf, Timo; Vetter, Pauline; Schmiedel, Stefan; Grünewald, Thomas; Jacobs, Michael; Arribas, Jose R.; Evans, Laura; Hewlett, Angela L.; Brantsaeter, Arne B.; Ippolito, Giuseppe; Rapp, Christophe; Hoepelman, Andy I M; Gutman, Julie

    2016-01-01

    Background Available data on the characteristics of patients with Ebola virus disease (EVD) and clinical management of EVD in settings outside West Africa, as well as the complications observed in those patients, are limited. METHODS We reviewed available clinical, laboratory, and virologic data fro

  17. A Clinical model to identify patients with high-risk coronary artery disease

    NARCIS (Netherlands)

    Y. Yang (Yelin); L. Chen (Li); Y. Yam (Yeung); S. Achenbach (Stephan); M. Al-Mallah (Mouaz); D.S. Berman (Daniel); M.J. Budoff (Matthew); F. Cademartiri (Filippo); T.Q. Callister (Tracy); H.-J. Chang (Hyuk-Jae); V.Y. Cheng (Victor); K. Chinnaiyan (Kavitha); R.C. Cury (Ricardo); A. Delago (Augustin); A. Dunning (Allison); G.M. Feuchtner (Gudrun); M. Hadamitzky (Martin); J. Hausleiter (Jörg); R.P. Karlsberg (Ronald); P.A. Kaufmann (Philipp); Y.-J. Kim (Yong-Jin); J. Leipsic (Jonathon); T.M. LaBounty (Troy); F.Y. Lin (Fay); E. Maffei (Erica); G.L. Raff (Gilbert); L.J. Shaw (Leslee); T.C. Villines (Todd); J.K. Min (James K.); B.J.W. Chow (Benjamin)

    2015-01-01

    textabstractObjectives This study sought to develop a clinical model that identifies patients with and without high-risk coronary artery disease (CAD). Background Although current clinical models help to estimate a patient's pre-test probability of obstructive CAD, they do not accurately identify th

  18. Huntington's disease - clinical signs, symptoms, presymptomatic diagnosis, and diagnosis.

    Science.gov (United States)

    Shannon, Kathleen M

    2011-01-01

    HD is a complex illness, with a broad clinical picture that begins years before clear motor onset and evolves over decades to a terminal state of extreme disability. It challenges the resources of families and communities and the skills of medical and ancillary health care providers. A broader understanding of the phenotypes, progression, and genetic basis of HD may elevate the standard of care for these deserving patients.

  19. Repeatability of the evaluation of systemic microvascular endothelial function using laser doppler perfusion monitoring: clinical and statistical implications

    Directory of Open Access Journals (Sweden)

    Eduardo Tibiriçá

    2011-01-01

    Full Text Available OBJECTIVE: An awareness of the repeatability of biological measures is required to properly design and calculate sample sizes for longitudinal interventional studies. We investigated the day-to-day repeatability of measures of systemic microvascular reactivity using laser Doppler perfusion monitoring. METHODS: We performed laser Doppler perfusion monitoring in combination with skin iontophoresis using acetylcholine and sodium nitroprusside as well as post-occlusive reactive and thermal hyperemia twice within two weeks. The repeatability was assessed by calculating the within-subject standard deviations, limits of agreement, typical errors and intra-class correlation coefficients between days 1 and 2. The ratio of the within-subject standard deviation to the mean values obtained on days 1 and 2 (within-subject standard deviation/GM was used to determine the condition with the best repeatability. RESULTS: Twenty-four healthy subjects, aged 24.6 + 3.8 years, were recruited. The area under the curve of the vasodilatory response to post-occlusive reactivity showed marked variability (within-subject standard deviation/GM = 0.83, while the area under the curve for acetylcholine exhibited less variability (within-subject standard deviation/ GM = 0.52 and was comparable to the responses to sodium nitroprusside and thermal treatment (within-subject standard deviations/GM of 0.67 and 0.56, respectively. The area under the blood flow/time curve for vasodilation during acetylcholine administration required the smallest sample sizes, the area under the blood flow/time curve during post-occlusive reactivity required the largest sample sizes, and the area under the blood flow/time curves of vasodilation induced by sodium nitroprusside and thermal treatment required intermediate sizes. CONCLUSIONS: In view of the importance of random error related to the day-to-day repeatability of laser Doppler perfusion monitoring, we propose an original and robust statistical

  20. Dopaminergic and clinical correlates of pathological gambling in Parkinson's disease

    DEFF Research Database (Denmark)

    Callesen, Mette Buhl; Hansen, Kim Vang; Gjedde, Albert

    2013-01-01

    Dopaminergic medication for motor symptoms in Parkinson's disease (PD) recently has been linked with impulse control disorders, including pathological gambling (PG), which affects up to 8% of patients. PG often is considered a behavioral addiction associated with disinhibition, risky decision......-making, and altered striatal dopaminergic neurotransmission. Using [(11)C]raclopride with positron emission tomography, we assessed dopaminergic neurotransmission during Iowa Gambling Task performance. Here we present data from a single patient with PD and concomitant PG. We noted a marked decrease in [(11)C......]raclopride binding in the left ventral striatum upon gambling, indicating a gambling-induced dopamine release. The results imply that PG in PD is associated with a high dose of dopaminergic medication, pronounced motor symptomatology, young age at disease onset, high propensity for sensation seeking, and risky...

  1. Clinical evaluation of CT and radionuclide examination in renal diseases

    Energy Technology Data Exchange (ETDEWEB)

    Kutani, W.; Ishida, H.; Shirakawa, S.; Shintaku, T.; Funaki, R. (Osaka Medical Coll., Takatsuki (Japan))

    1980-08-01

    One hundred and twelve cases of renal diseases were studied by computed tomography (CT) using EMI 5005/12. Of them, 60 were examined by both CT and renal scintigraphy, and comparatively evaluated. The CT units were checked before and after the contrast enhancement. Renal scintigrams were obtained by gamma cameras (PHO/GAMMA HP 6406, PHO/GAMMA LFOV) using 99 M Tc-DMSA. CT was especially useful in diagnosing the renal cysts and the hydronephrosis. Cysts in other organs (liver, spleen and pancreas) were simultaneously ascertained in polycystic diseases. CT was not helpful in diagnosing nephritis and diabetic nephropathy. Floating kidney and horse-shoe kidney were difficult to diagnose with CT. The renal scintigram was the reflection of the renal function, and was relatively more useful than CT in diagnosing horse-shoe kidney, floating kidney and nephritis, while it was not useful for non-functioning kidneys.

  2. Clinical image: Hydatid disease of the chest wall

    Energy Technology Data Exchange (ETDEWEB)

    Graham, R.J.; Berlin, J.W.; Ghahremani, G.G. [Northwestern Univ., Evanston, IL (United States)

    1996-05-01

    Hydatid disease is rarely encountered among the population of the United States, but it affects several million people in sheep-raising regions of the world. Human infestation with Echinococcus granulosus begins following ingestion of its ova, which are excreted into the contaminated water during the usual dog-sheep cycle. Hydatid cysts will then develop most frequently in the liver (75% of cases) and lungs (15%) of the human host. Skeletal involvement has been reported to occur in only 0.5-4.0% of patients in the endemic areas. Because of the rarity and perplexing imaging features of hydatid disease involving the chest wall, we wish herein to present a case evaluated recently at our institution. 5 refs., 1 fig.

  3. Clinical aspects of 100 patients with Kawasaki disease.

    Science.gov (United States)

    Tizard, E J; Suzuki, A; Levin, M; Dillon, M J

    1991-02-01

    We report 101 episodes of Kawasaki disease in 100 patients seen over a 12 year period. A total of 35 patients had cardiac involvement ranging from pericardial effusion to coronary artery aneurysms with ischaemic complications, which resulted in death in one patient. Laboratory investigations showed leucocytosis, thrombocytosis, and a raised erythrocyte sedimentation rate to be common features and the first two variables were significantly associated with cardiac involvement. Treatment regimens changed over the study period. Aspirin was used in most patients often in conjunction with dipyridamole and from 1986 intravenous immunoglobulin was given routinely to those patients seen early in the illness. Additional therapeutic measures in individual patients included prostacyclin, heparin, streptokinase, and plasma exchange/exchange transfusion. Attention is drawn to the uncertainity of the long term cardiovascular consequences in the light of adults reported with premature atherosclerotic lesions of similar appearance to those seen in Kawasaki disease.

  4. Electroencephalogram and Alzheimer’s Disease: Clinical and Research Approaches

    Directory of Open Access Journals (Sweden)

    Anthoula Tsolaki

    2014-01-01

    Full Text Available Alzheimer’s disease (AD is a neurodegenerative disorder that is characterized by cognitive deficits, problems in activities of daily living, and behavioral disturbances. Electroencephalogram (EEG has been demonstrated as a reliable tool in dementia research and diagnosis. The application of EEG in AD has a wide range of interest. EEG contributes to the differential diagnosis and the prognosis of the disease progression. Additionally such recordings can add important information related to the drug effectiveness. This review is prepared to form a knowledge platform for the project entitled “Cognitive Signal Processing Lab,” which is in progress in Information Technology Institute in Thessaloniki. The team tried to focus on the main research fields of AD via EEG and recent published studies.

  5. [Alzheimer's disease cerebro-spinal fluid biomarkers: A clinical research tool sometimes useful in daily clinical practice of memory clinics for the diagnosis of complex cases].

    Science.gov (United States)

    Magnin, E; Dumurgier, J; Bouaziz-Amar, E; Bombois, S; Wallon, D; Gabelle, A; Lehmann, S; Blanc, F; Bousiges, O; Hannequin, D; Jung, B; Miguet-Alfonsi, C; Quillard, M; Pasquier, F; Peoc'h, K; Laplanche, J-L; Hugon, J; Paquet, C

    2017-04-01

    The role of biomarkers in clinical research was recently highlighted in the new criteria for the diagnosis of Alzheimer's disease. Cerebro-spinal fluid (CSF) biomarkers (total Tau protein, threonine 181 phosphorylated Tau protein and amyloid Aβ1-42 peptide) are associated with cerebral neuropathological lesions observed in Alzheimer's disease (neuronal death, neurofibrillary tangle with abnormal Tau deposits and amyloid plaque). Aβ1-40 amyloid peptide dosage helps to interpret Aβ1-42 results. As suggested in the latest international criteria and the French HAS (Haute Autorité de santé) recommendations, using theses CSF biomarkers should not be systematic but sometimes could be performed to improve confidence about the diagnostic of Alzheimer's disease in young subjects or in complex clinical situations. Future biomarkers actually in development will additionally help in diagnostic process (differential diagnosis) and in prognostic evaluation of neurodegenerative diseases.

  6. CHRONOBIOLOGICAL APPROACH TO ESTIMATION OF CLINICAL COURSE AND TREATMENT OF GASTROESOPHAGEAL REFLUX DISEASE

    Directory of Open Access Journals (Sweden)

    R.V. Lyakisheva

    2008-09-01

    Full Text Available The article presents analysis of ratio of biorhythm in patients with gastroesophageal reflux disease and time of clinical symptoms appearance. Itwas determined thatcircadian rhythm, estimated according to Kerdo index, is correlated with appearance of disease symptoms in 24 hours. Taking into consideration its characteristics while managing drug therapy allows to raise therapy’s efficacy.

  7. A case of Refsum disease with atypical clinical picture in family members.

    Science.gov (United States)

    Marano, R; Soliveri, P; Garavaglia, B; Antonelli, A; Girotti, F

    1989-08-01

    A typical case of Refsum disease with high phytanic acid plasma levels is described. Two siblings showed some features but not the entire clinical spectrum of the disease. The unusual condition of the patient's father, a presumed heterozygotic carrier with characteristic bone abnormalities and a delayed onset retinopathy, is discussed.

  8. Clinical Features and Outcome of Ebola Virus Disease in Pediatric Patients

    DEFF Research Database (Denmark)

    Damkjær, Mads; Rudolf, Frauke; Mishra, Sharmistha;

    2016-01-01

    Clinical and outcome data on pediatric Ebola virus disease are limited. We report a case-series of 33 pediatric patients with Ebola virus disease in a single Ebola Treatment Center in 2014-2015. The case-fatality rate was 42%, with the majority of deaths occurring within 10 days of admission....

  9. The Clinical Nurse Specialist in the School Setting: Case Management of Migrant Children with Dental Disease.

    Science.gov (United States)

    Good, Mary Ellen

    This paper presents strategies for the clinical nurse specialist (CNS) in the school setting to use in case management of migrant children with dental disease. Although dental disease is the major health problem of all school-age children in the nation, the problem is even more severe for children of migrant farmworkers. Leininger's transcultural…

  10. Metabolic syndrome in rheumatic diseases: epidemiology, pathophysiology, and clinical implications

    OpenAIRE

    Sidiropoulos, Prodromos I; Karvounaris, Stylianos A; Boumpas, Dimitrios T.

    2008-01-01

    Subjects with metabolic syndrome–a constellation of cardiovascular risk factors of which central obesity and insulin resistance are the most characteristic–are at increased risk for developing diabetes mellitus and cardiovascular disease. In these subjects, abdominal adipose tissue is a source of inflammatory cytokines such as tumor necrosis factor-alpha, known to promote insulin resistance. The presence of inflammatory cytokines together with the well-documented increased risk for cardiovasc...

  11. Cardiac autonomic testing and treating heart disease. 'A clinical perspective'

    Directory of Open Access Journals (Sweden)

    Nicholas L. DePace

    2014-12-01

    Full Text Available Background Coronary heart disease (CHD is a major health concern, affecting nearly half the middle-age population and responsible for nearly one-third of all deaths. Clinicians have several major responsibilities beyond diagnosing CHD, such as risk stratification of patients for major adverse cardiac events (MACE and treating risks, as well as the patient. This second of a two-part review series discusses treating risk factors, including autonomic dysfunction, and expected outcomes. Methods Therapies for treating cardiac mortality risks including cardiovascular autonomic neuropathy (CAN, are discussed. Results While risk factors effectively target high-risk patients, a large number of individuals who will develop complications from heart disease are not identified by current scoring systems. Many patients with heart conditions, who appear to be well-managed by traditional therapies, experience MACE. Parasympathetic and Sympathetic (P&S function testing provides more information and has the potential to further aid doctors in individualizing and titrating therapy to minimize risk. Advanced autonomic dysfunction (AAD and its more severe form cardiovascular autonomic neuropathy have been strongly associated with an elevated risk of cardiac mortality and are diagnosable through autonomic testing. This additional information includes patient-specific physiologic measures, such as sympathovagal balance (SB. Studies have shown that establishing and maintaining proper SB minimizes morbidity and mortality risk. Conclusions P&S testing promotes primary prevention, treating subclinical disease states, as well as secondary prevention, thereby improving patient outcomes through (1 maintaining wellness, (2 preventing symptoms and disorder and (3 treating subclinical manifestations (autonomic dysfunction, as well as (4 disease and symptoms (autonomic neuropathy.

  12. Basic and clinical aspects of osteoporosis in inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Low bone mineral density and the increased risk of fracture in gastrointestinal diseases have a multifactorial pathogenesis. Inflammatory bowel disease (IBD) has been associated with an increased risk of osteoporosis and osteopenia and epidemiologic studies have reported an increased prevalence of low bone mass in patients with IBD. Certainly, genetics play an important role,along with other factors such as systemic inflammation,malnutrition, hypogonadism, glucocorticoid therapy in IBD and other lifestyle factors. At a molecular level the proinflammatory cytokines that contribute to the intestinal immune response in IBD are known to enhance bone resorption. There are genes influencing osteoblast function and it is likely that LRP5 may be involved in the skeletal development. Also the identification of vitamin D receptors (VDRs) and some of its polymorphisms have led to consider the possible relationships between them and some autoimmune diseases and may be involved in the pathogenesis through the exertion of its immunomodulatory effects during inflammation. Trying to explain the physiopathology we have found that there is increasing evidence for the integration between systemic inflammation and bone loss likely mediated via receptor for activated nuclear factor kappa-B (RANK),RANK-ligand, and osteoprotegerin, proteins that can affect both osteoclastogenesis and T-cell activation.Although glucocorticoids can reduce mucosal and systemic inflammation, they have intrinsic qualities that negatively impact on bone mass. It is still controversial if all IBD patients should be screened, especially in patients with preexisting risk factors for bone disease. Available methods to measure BMD include single energy x-ray absorptiometry, DXA, quantitative computed tomography (QCT), radiographic absorptiometry, and ultrasound.DXA is the establish method to determine BMD, and routinely is measured in the hip and the lumbar spine.There are several treatments options that have

  13. HYDATID DISEASE INVOLVING CERVICAL SOFT TISSUES: CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    A. S. Aladin

    2013-01-01

    Full Text Available Neck cysts are rather commonly encountered in the practice of a surgeon, including an oncologist, who treats diseases of the head and neck. At the same time there are rare involvements of the organs and soft tissues of the neck. In particular, echinococcosis of neck soft tissues is an unusual site for hydatid cyst. Accounts of this involvement are found only as single communications in the literature. The presented case of hydatid cyst illustrates a variety of neck abnormalities.

  14. A clinical guide to periodontology: pathology of periodontal disease.

    Science.gov (United States)

    Hasan, A; Palmer, R M

    2014-04-01

    An appreciation of dental plaque and the host response provides an essential basis from which to understand the disease process and treatment rationale. This information will help the reader to understand not only the way that plaque may have an impact on oral tissues but also why regular effective cleaning may improve periodontal health and why some individuals appear to have a greater susceptibility to periodontitis than others, either intrinsically or in relation to various systemic factors.

  15. Clinical utility of ivabradine in cardiovascular disease management: current status

    OpenAIRE

    Rosano GMC; Vitale C; Spoletini I; Volterrani M.

    2014-01-01

    Giuseppe MC Rosano,1,2 Cristiana Vitale,1,2 Ilaria Spoletini,1 Maurizio Volterrani11Department of Medical Sciences, IRCCS San Raffaele Pisana, Rome, Italy; 2Cardiovascular and Cell Sciences Research Institute, St George's University of London, London, UK Abstract: Ivabradine is a selective antagonist of the funny channels with anti-anginal and anti-ischemic properties, approved for the treatment of coronary artery disease (CAD) and heart failure (HF). It provides pure heart rate redu...

  16. Development of clinical disease in cats experimentally infected with feline immunodeficiency virus.

    Science.gov (United States)

    English, R V; Nelson, P; Johnson, C M; Nasisse, M; Tompkins, W A; Tompkins, M B

    1994-09-01

    Cats naturally infected with feline immunodeficiency virus (FIV) develop an AIDS-like syndrome whereas experimentally infected cats do not. To investigate the role of cofactors in the development of this disease in cats, 7 specific pathogen-free (SPF) and 12 random-source (RS) cats were infected with FIV. Over 4 years, infected cats developed similar phenotypic and functional immune abnormalities characterized by early and chronic inversion of CD4+:CD8+ cell ratios and significantly decreased mitogen responses compared with controls. Beginning 18-24 months after infection, 10 RS cats developed chronic clinical disease typical of feline AIDS, including stomatitis and recurrent upper respiratory disease; 4 SPF cats also developed chronic clinical disease, 2 with neurologic disease and 2 with B cell lymphomas. Thus, immunologic background is important in the type of disease that develops in cats infected with FIV, and FIV represents a promising animal model for studying the immunopathogenesis of AIDS in humans.

  17. Mesoglycan: Clinical Evidences for Use in Vascular Diseases

    Directory of Open Access Journals (Sweden)

    Antonella Tufano

    2010-01-01

    Full Text Available Vascular glycosaminoglycans (GAG are essential components of the endothelium and vessel wall and have been shown to be involved in several biologic functions. Mesoglycan, a natural GAG preparation, is a polysaccharide complex rich in sulphur radicals with strong negative electric charge. It is extracted from porcine intestinal mucosa and is composed of heparan sulfate, dermatan sulfate, electrophoretically slow-moving heparin, and variable and minimal quantities of chondroitin sulfate. Data on antithrombotic and profibrinolytic activities of the drug show that mesoglycan, although not indicated in the treatment of acute arterial or venous thrombosis because of the low antithrombotic effect, may be useful in the management of vascular diseases, when combined with antithrombotics in the case of disease of cerebral vasculature, and with antithrombotics and vasodilator drugs in the case of chronic peripheral arterial disease. The protective effect of mesoglycan in patients with venous thrombosis and the absence of side effects, support the use of GAG in patients with chronic venous insufficiency and persistent venous ulcers, in association with compression therapy (zinc bandages, multiple layer bandages, etc., elastic compression stockings, and local care, and in the prevention of recurrences in patients with previous DVT following the standard course of oral anticoagulation treatment.

  18. Clinical Application of Percutaneous Nephrostomy in Some Urologic Diseases

    Institute of Scientific and Technical Information of China (English)

    Hongbo LUO; Xiuheng LIU; Tianpeng WU; Xiaobin ZHANG

    2008-01-01

    Percutaneous nephrostomy was applied in some other urologic diseases and the efficacy was evaluated. Percutaneous nephrostomy for percutaneous nephrolithotomy (PNL) was performed in patients with various renal, perinephric and bladder diseases (n=79). The tract establishment, operation duration and complications were observed and the efficacy was assessed. The results showed that the tracts were successfully established in 79 cases. The operation lasted 4-20 min. 12F-16F single tract was established in nephrohydrop patients and 16F-20F single or multiple tracts were established in patients with pyonephrosis, renal cortical abscess, renal cyst and perinephric abscess. During dilation, no leakage of liquor puris was noted. Establishment of 18F single tract was achieved in one urinoma patient. In two patients with foreign body in kidney, the foreign bodies were removed via established 14F single tract. 18F tracts were established in 2 patients with bladder contracture, which was followed by the placement of 16F balloon urethral catheter for drainage. No complications, such as massive bleeding, intestinal injury and spreading of infection took place in our series. All the patients were followed up for 2-12 months. No long-term complications such as dropping of drainage tube occurred. It is concluded that as a minimally invasive technique, percutaneous nephrostomy has the advantages of convenience, simplicity and causing less complications and can be used for various urologic diseases.

  19. Gastroesophageal reflux disease: exaggerations, evidence and clinical practice

    Directory of Open Access Journals (Sweden)

    Cristina Targa Ferreira

    2014-04-01

    Full Text Available OBJECTIVE: there are many questions and little evidence regarding the diagnosis and treatment of gastroesophageal reflux disease (GERD in children. The association between GERD and cow's milk protein allergy (CMPA, overuse of abdominal ultrasonography for the diagnosis of GERD, and excessive pharmacological treatment, especially proton-pump inhibitors (PPIs are some aspects that need clarification. This review aimed to establish the current scientific evidence for the diagnosis and treatment of GERD in children. DATA SOURCE: a search was conducted in the MEDLINE, PubMed, LILACS, SciELO, and Cochrane Library electronic databases, using the following keywords: gastroesophageal reflux; gastroesophageal reflux disease; proton-pump inhibitors; and prokinetics; in different age groups of the pediatric age range; up to May of 2013. DATA SYNTHESIS: abdominal ultrasonography should not be recommended to investigate gastroesophageal reflux (GER. Simultaneous treatment of GERD and CMPA often results in unnecessary use of medication or elimination diet. There is insufficient evidence for the prescription of prokinetics to all patients with GER/GERD. There is little evidence to support acid suppression in the first year of life, to treat nonspecific symptoms suggestive of GERD. Conservative treatment has many benefits and with low cost and no side-effects. CONCLUSIONS: there have been few randomized controlled trials that assessed the management of GERD in children and no examination can be considered the gold standard for GERD diagnosis. For these reasons, there are exaggerations in the diagnosis and treatment of this disease, which need to be corrected.

  20. Evaluating statistical and clinical significance of intervention effects in single-case experimental designs: An SPSS method to analyze univariate data

    NARCIS (Netherlands)

    M. Maric; M. de Haan; S.M. Hogendoorn; L.H. Wolters; H.M. Huizenga

    2015-01-01

    Single-case experimental designs are useful methods in clinical research practice to investigate individual client progress. Their proliferation might have been hampered by methodological challenges such as the difficulty applying existing statistical procedures. In this article, we describe a data-

  1. Clinical experience with pirfenidone in five patients with scleroderma-related interstitial lung disease.

    Science.gov (United States)

    Miura, Yukiko; Saito, Takefumi; Fujita, Kazutaka; Tsunoda, Yoshiya; Tanaka, Toru; Takoi, Hiroyuki; Yatagai, Yohei; Rin, Shigen; Sekine, Akimasa; Hayashihara, Kenji; Nei, Takahito; Azuma, Arata

    2014-10-20

    Interstitial lung disease is the most common complication and cause of death among patients with scleroderma. Scleroderma-related interstitial lung disease has usually been treated with cyclophosphamide; however, its effect was evaluated to be modest and long-term administration of this drug is associated with adverse effects. Herein, we report our clinical experience of administering pirfenidone, which is an antifibrotic agent, in five patients with scleroderma-related interstitial lung disease. All patients demonstrated an increase in vital capacity.

  2. The future is now: model-based clinical trial design for Alzheimer's disease.

    Science.gov (United States)

    Romero, K; Ito, K; Rogers, J A; Polhamus, D; Qiu, R; Stephenson, D; Mohs, R; Lalonde, R; Sinha, V; Wang, Y; Brown, D; Isaac, M; Vamvakas, S; Hemmings, R; Pani, L; Bain, L J; Corrigan, B

    2015-03-01

    Failures in trials for Alzheimer's disease (AD) may be attributable to inadequate dosing, population selection, drug inefficacy, or insufficient design optimization. The Coalition Against Major Diseases (CAMD) was formed in 2008 to develop drug development tools (DDT) to expedite drug development for AD and Parkinson's disease. CAMD led a process that successfully advanced a clinical trial simulation (CTS) tool for AD through the formal regulatory review process at the US Food and Drug Administration (FDA) and European Medicines Agency (EMA).

  3. Women and heart disease, the underrecognized burden: sex differences, biases, and unmet clinical and research challenges.

    Science.gov (United States)

    Westerman, Stacy; Wenger, Nanette K

    2016-04-01

    For many years the significance of heart disease in women was vastly underappreciated, and women were significantly underrepresented in cardiovascular clinical research. We now know that cardiovascular disease is the leading cause of death for women. Women and men share many similarities in the pathophysiology and manifestations of heart disease. However, as research advances with the continued inclusion of more women, knowledge about gender differences between the female and male heart, both on a physiological and pathophysiological basis, grows. These differences can be found in all domains of cardiovascular health and disease, including heart rhythm, heart failure, coronary disease and valvular disease. Further understanding of gender differences in the heart is crucial for advancing our ability to maintain a healthy population and identify and treat heart disease in both women and men. Specific examples within the spectrum of heart disease will be discussed in this review paper, and areas for further research will be proposed.

  4. [Screening of sexually transmitted diseases in clinical and non-clinical settings in Salvador, Bahia, Brazil].

    Science.gov (United States)

    de Codes, José Santiago; Cohen, Deborah Ann; de Melo, Neli Almeida; Teixeira, Guilherme Gonzaga; Leal, Alexandre dos Santos; Silva, Tiago de Jesus; de Oliveira, Miucha Pereira Rios

    2006-02-01

    The objectives were to study: (1) acceptance of STD screening in non-clinical settings for asymptomatic individuals; (2) risk factors and STD prevalence among individuals in non-clinical and clinical settings; and (3) non-clinical screening of asymptomatic populations as a feasible method for STD control. We recruited 139 males and 486 females between 18 and 30 years of age from a family planning clinic, schools, and community centers in low-income neighborhoods. We asked about STD symptoms and STD/HIV risk behaviors and tested the individuals for gonorrhea, Chlamydia, syphilis, and HIV. Except for HIV, women recruited directly from the community had higher STD rates than those who came in for care at the clinic. Screening in non-clinical settings in Brazil is feasible and has a high yield among young adults in low-income communities. Infected participants would likely never have otherwise sought care or been tested or treated. STD control efforts could be implemented in any site that can reach populations at risk and become a routine procedure in health care settings where people report for problems unrelated to STDs.

  5. Diet-induced mouse model of fatty liver disease and nonalcoholic steatohepatitis reflecting clinical disease progression and methods of assessment.

    Science.gov (United States)

    Clapper, Jason R; Hendricks, Michelle D; Gu, Guibao; Wittmer, Carrie; Dolman, Carrie S; Herich, John; Athanacio, Jennifer; Villescaz, Christiane; Ghosh, Soumitra S; Heilig, Joseph S; Lowe, Carolyn; Roth, Jonathan D

    2013-10-01

    Shortcomings of previously reported preclinical models of nonalcoholic steatohepatitis (NASH) include inadequate methods used to induce disease and assess liver pathology. We have developed a dietary model of NASH displaying features observed clinically and methods for objectively assessing disease progression. Mice fed a diet containing 40% fat (of which ∼18% was trans fat), 22% fructose, and 2% cholesterol developed three stages of nonalcoholic fatty liver disease (steatosis, steatohepatitis with fibrosis, and cirrhosis) as assessed by histological and biochemical methods. Using digital pathology to reconstruct the left lateral and right medial lobes of the liver, we made comparisons between and within lobes to determine the uniformity of collagen deposition, which in turn informed experimental sampling methods for histological, biochemical, and gene expression analyses. Gene expression analyses conducted with animals stratified by disease severity led to the identification of several genes for which expression highly correlated with the histological assessment of fibrosis. Importantly, we have established a biopsy method allowing assessment of disease progression. Mice subjected to liver biopsy recovered well from the procedure compared with sham-operated controls with no apparent effect on liver function. Tissue obtained by biopsy was sufficient for gene and protein expression analyses, providing the opportunity to establish an objective method of assessing liver pathology before subjecting animals to treatment. The improved assessment techniques and the observation that mice fed the high-fat diet exhibit many clinically relevant characteristics of NASH establish a preclinical model for identifying pharmacological interventions with greater likelihood of translating to the clinic.

  6. Autosomal dominant polycystic kidney disease: recent advances in clinical management [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Zhiguo Mao

    2016-08-01

    Full Text Available The first clinical descriptions of autosomal dominant polycystic kidney disease (ADPKD go back at least 500 years to the late 16th century. Advances in understanding disease presentation and pathophysiology have mirrored the progress of clinical medicine in anatomy, pathology, physiology, cell biology, and genetics. The identification of PKD1 and PKD2, the major genes mutated in ADPKD, has stimulated major advances, which in turn have led to the first approved drug for this disorder and a fresh reassessment of patient management in the 21st century. In this commentary, we consider how clinical management is likely to change in the coming decade.

  7. Clinical features of Crohn disease concomitant with ankylosing spondylitis: A preliminary single-center study.

    Science.gov (United States)

    Liu, Song; Ding, Jie; Wang, Meng; Zhou, Wanqing; Feng, Min; Guan, Wenxian

    2016-07-01

    Extraintestinal manifestations (EIMs) cause increased morbidity and decreased quality of life in Crohn disease (CD). Ankylosing spondylitis (AS) belongs to EIMs. Very little is known on the clinical features of CD concomitant with AS. This study is to investigate the clinical features of CD patients with AS.We retrospectively collected all CD patients with AS in our hospital, and established a comparison group (CD without AS) with age, sex, and duration of Crohn disease matched. Clinical information was retrieved for comparison.Eight CD + AS patients were identified from 195 CD patients. Sixteen CD patients were randomly selected into comparison group. All CD + AS patients were male, HLA-B27 (+), and rheumatoid factor (-) with an average age of 40.8 ± 4.52 years. Significant correlation between disease activity of CD and AS was revealed (r = 0.857, P = 0.011). Significant correlation between disease activity of CD and functional limitation associated with AS was identified (r = 0.881, P Crohn disease activity index (CDAI), Bath AS disease activity index, and Bath AS functional index(BASFI) scores (r = 0.73-0.93, P Disease activity of CD correlates with disease activity of AS and functional limitation caused by AS. CRP, ESR, and Alb/Glo may serve as biomarkers for disease activity and functional limitation in CD patients concomitant with AS, although future studies are expected.

  8. Clinical Trials in Peripheral Vascular Disease: Pipeline and Trial Designs: An Evaluation of the ClinicalTrials.gov Database

    Science.gov (United States)

    Subherwal, Sumeet; Patel, Manesh R.; Chiswell, Karen; Tidemann-Miller, Beth A.; Jones, W. Schuyler; Conte, Michael S.; White, Christopher J.; Bhatt, Deepak L.; Laird, John R.; Hiatt, William R.; Tasneem, Asba; Califf, Robert M.

    2014-01-01

    Background Tremendous advances have occurred in therapies for peripheral vascular disease (PVD); however, until recently it has not been possible to examine the entire clinical trial portfolio of studies for treatment of PVD (both arterial and venous disease). Methods and Results We examined interventional trials registered in ClinicalTrials.gov from October 2007 through September 2010 (n=40,970) and identified 676 (1.7%) PVD trials (n=493 arterial only, n=170 venous only, n=13 both arterial and venous). Most arterial studies investigated lower extremity peripheral artery disease and acute stroke (35% and 24%, respectively), while most venous studies examined deep vein thrombosis/pulmonary embolus prevention (42%) or venous ulceration (25%). A placebo-controlled trial design was used in 27% of the PVD trials, and 4% of the PVD trials excluded patients aged >65 years. Enrollment in at least 1 US site decreased from 51% in 2007 to 41% of trials in 2010. Compared with non-cardiology disciplines, PVD trials were more likely to be double-blinded, investigate use of devices and procedures, and have industry sponsorship and assumed funding source, and less likely to investigate drug and behavioral therapies. Geographic access to PVD clinical trials within the United States is limited to primarily large metropolitan areas. Conclusions PVD studies represent a small group of trials registered in ClinicalTrials.gov, despite the high prevalence of vascular disease in the general population. This low number, compounded by the decreasing number of PVD trials in the United States, is concerning and may limit the ability to inform current clinical practice of patients with PVD. PMID:25239436

  9. Canadian Association of Gastroenterology Clinical Practice Guidelines: The Use of Infliximab in Crohn's Disease

    Directory of Open Access Journals (Sweden)

    Remo Panaccione

    2004-01-01

    Full Text Available These guidelines are presented as a follow-up to the original Canadian Association of Gastroenterology Clinical Practice Guidelines: The use of infliximab in Crohn's disease, published in the Canadian Journal of Gastroenterology (1. The original guidelines represented publications between 1998 and 2000. The current guidelines have been updated to reflect knowledge gained from two pivotal randomized clinical trails, with the use of infliximab in the maintenance of inflammatory Crohn's disease in remission (2 and in the maintenance of fistulous Crohn's disease in remission (3.

  10. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

    DEFF Research Database (Denmark)

    Ng, Yi Shiau; Alston, Charlotte L; Diodato, Daria;

    2016-01-01

    BACKGROUND: Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple mitochondrial respiratory chain defects. METHODS: We summarised the clinical, biochemical and molecular genetic......, developmental delay and lactic acidaemia are common clinical manifestations with disease onset under 2 years. Renal involvement is more prevalent than seizures (66% vs 44%). In addition, median survival time was longer in patients with renal involvement compared with those without renal disease (6 years vs 8...

  11. Clinical correlates of common corneal neovascular diseases: a literature review

    Institute of Scientific and Technical Information of China (English)

    Nizar; Saleh; Abdelfattah; Mohamed; Amgad; Amira; A; Zayed; Hamdy; Salem; Ahmed; E; Elkhanany; Heba; Hussein; Nawal; Abd; El-Baky

    2015-01-01

    A large subset of corneal pathologies involves the formation of new vessels(neovascularization), leading to compromised visual acuity. This article aims to review the clinical causes and presentations of corneal neovascularization(CNV) by examining the mechanisms behind common CNV-related corneal pathologies, with a particular focus on herpes simplex stromal keratitis,contact lenses-induced keratitis and CNV secondary to keratoplasty. Moreover, we reviewed CNV in the context of different types of corneal transplantation and keratoprosthesis, and summarized the most relevant treatment available so far.

  12. Gut in diseases: Physiological elements and their clinical significance

    Institute of Scientific and Technical Information of China (English)

    Lian-An Ding; Jie-Shou Li

    2003-01-01

    The intestinal barrier function of GI tract is very important in the body except for the function of digestion and absorption. The functional status of gut barrier basically reflects the stress severity when body suffers from trauma and various stimulations. Many harmful factors such as drugs,illnesses, trauma and burns can damage the gut barrier,which can lead to the barrier dysfunction and bacterial/endotoxin translocation. The paper discusses and reviews the concepts, anatomy, pathophysiology of gut barrier and its clinical relations.

  13. Development of a friendly, self-teaching, interactive statistical package for analysis of clinical research data. The BRIGHT STAT-PACK.

    Science.gov (United States)

    Rodbard, D; Cole, B R; Munson, P J

    1984-06-01

    We have developed a new statistical analysis package for use by the clinical investigator, the clinician, and the laboratory researcher. This package attempts to implement the following philosophy: The programs should be essentially self-teaching, friendly, and forgiving; the programs should educate the user regarding the underlying theory, assumptions, and interpretation of the statistical methods involved; the programs should automatically test relevant assumptions and warn the user when these assumptions appear to have been violated; the programs should make recommendations about the availability of alternative statistical methods and automatically perform such analyses when indicated; the programs should interpret the results; and the programs should mimic, insofar as possible, the logic used in a routine, elementary statistical consultation. Several programs have been developed, extensively tested, and used.

  14. The clinical assessment, treatment, and prevention of lyme disease, human granulocytic anaplasmosis, and babesiosis: clinical practice guidelines by the Infectious Diseases Society of America.

    Science.gov (United States)

    Wormser, Gary P; Dattwyler, Raymond J; Shapiro, Eugene D; Halperin, John J; Steere, Allen C; Klempner, Mark S; Krause, Peter J; Bakken, Johan S; Strle, Franc; Stanek, Gerold; Bockenstedt, Linda; Fish, Durland; Dumler, J Stephen; Nadelman, Robert B

    2006-11-01

    Evidence-based guidelines for the management of patients with Lyme disease, human granulocytic anaplasmosis (formerly known as human granulocytic ehrlichiosis), and babesiosis were prepared by an expert panel of the Infectious Diseases Society of America. These updated guidelines replace the previous treatment guidelines published in 2000 (Clin Infect Dis 2000; 31[Suppl 1]:1-14). The guidelines are intended for use by health care providers who care for patients who either have these infections or may be at risk for them. For each of these Ixodes tickborne infections, information is provided about prevention, epidemiology, clinical manifestations, diagnosis, and treatment. Tables list the doses and durations of antimicrobial therapy recommended for treatment and prevention of Lyme disease and provide a partial list of therapies to be avoided. A definition of post-Lyme disease syndrome is proposed.

  15. [The clinical and serological manifestations of Lyme disease in Russia].

    Science.gov (United States)

    Anan'eva, L P; Skripnikova, I A; Barskova, V G; Steere, A C

    1995-01-01

    Out of 86 Lyme's disease patients with a history of migrating erythema nervous system, cardiovascular and articular involvement was observed in 27, 6 and 43% of cases. Acrodermatitis was diagnosed in 2% of patients. Affection of locomotor system manifested with acute arthritis episodes or pains in major joints. 11 patients of 12 examined at arthritis onset showed elevated titer of anti-Borrelia IgG antibodies. Serologically, of 80 patients with arthritis or arthralgia without prior migrating erythema 6 demonstrated antibodies to 5 and more Borrelia polypeptides.

  16. Vitamin D and clinical disease progression in HIV infection

    DEFF Research Database (Denmark)

    Viard, Jean-Paul; Souberbielle, Jean-Claude; Kirk, Ole

    2011-01-01

    BACKGROUND:: We examined the association between vitamin D [25(OH)D] level and disease progression in HIV infection. METHODS:: Within the EuroSIDA study, 2000 persons were randomly selected for 25(OH)D measurement in stored plasma samples closest to study entry. 25(OH)D results were stratified......, persons of black ethnic origin, living outside Southern Europe/Argentina, sampled during winter, and infected with HIV through non-homosexual exposure were at higher odds of having low 25(OH)D levels, while persons receiving protease inhibitors were at lower odds. Compared to those in the lowest 25(OH...

  17. Intestinal failure:Pathophysiological elements and clinical diseases

    Institute of Scientific and Technical Information of China (English)