Diagnostic Process (diagnostic + process)

Distribution by Scientific Domains
Distribution within Medical Sciences

Selected Abstracts

A Possibilistic Petri Net Model for Diagnosing Cracks in RC Structures

Kevin F. R. Liu
PPN integrates Petri nets with possibilistic reasoning and maintains the advantages of both formalisms. Two major features of PPN include the possibilistic token to carry information to describe an object and its corresponding possibility and necessity measures, and four types of possibilistic transitions,inference, duplication, aggregation, and aggregation-duplication. A reasoning algorithm, based on possibilistic Petri nets, is also developed to execute PPN. The PPN model and the reasoning algorithm are further used to diagnose possible causes of cracking in RC structures, and three basic cases are considered to demonstrate the applicability of the approach. The reliability of the results is increased by explaining the diagnostic process through the movement of tokens. Moreover, the confidence level associated with each possible cause of concrete cracking can be used to determine the relevance of the diagnosis. [source]

Affordable diagnostics,Changing the paradigm in India,,

CYTOMETRY, Issue S1 2008
Bala S. Manian
Abstract A successful strategy for developing affordable diagnostics begins with a shift in viewpoint. Diagnostics is a tool for generating clinical information. Amassed experience in different parts of the globe has shown that this process of generating and utilizing clinical information is not only different among various countries but also different in microenvironments within the same country. The development of affordable diagnostics requires consideration not only of the component costs such as hardware and consumables but also other related costs that contribute to the generation and delivery of that information. It is important to recognize that these costs associated with public health in resource-poor settings cannot remain at the mercy of charitable contributions from western nations. Therefore, the challenge of technological innovation is to create solutions that are locally affordable and sustainable in the long run within the local macroeconomic constraints. The solutions should permit generation of local economic activity that will reinforce long-term economic sustainability. For this reason it is essential not only to analyze the diagnostic process but also to define a pathway by which local healthcare systems in recipient nations can be endowed with elements that empower them to acquire and practice up-to-date modern diagnostic skills. The objective of this paper is to provide a wider view of diagnostic cost components and to show how solutions developed and delivered locally have resulted in economically affordable as well as sustainable products. © 2008 Clinical Cytometry Society [source]


M. Salto-Tellez
Molecular diagnosis is the application of molecular biology techniques and knowledge of the molecular mechanisms of disease to diagnosis, prognostication and treatment of diseases. Molecular Diagnosis is, arguably, the fastest growing area of diagnostic medicine. The US market for molecular testing generated $1.3 billion in 2000, which was predicted to increase to about $4.2 billion by 2007.1 We proposed the term Diagnostic Molecular Cytopathology to define the application of molecular diagnosis to cytopathology2. Diagnostic Molecular Cytopathology is essential for the following reasons: (i) Molecular testing is sometimes indispensable to establish an unequivocal diagnosis on cell preparations; (ii) Molecular testing provides extra information on the prognosis or therapy of diseases diagnosed by conventional cytology; (iii) Molecular testing provides genetic information on the inherited nature of diseases that can be directly investigated in cytology samples, by either exfoliation or by fine needle aspiration; (iv) Sometimes the cytopathology sample is the most convenient (or the only available) source of material for molecular testing; (v). Direct molecular interrogation of cells allows for a diagnostic correlation that would otherwise not be possible. Parallel to this direct diagnostic implication, cytopathology is increasing important in the validation of biomarkers for specific diseases, and in therefore of significant importance in the overall translational research strategies. We illustrate its application in some of the main areas of oncology molecular testing, such as molecular fingerprinting of neoplasms,3 lymphoreticular diseases,2 sarcomas4 and lung cancer,5 as well as translational research using diagnostic cytopathology techniques. The next years will see the consolidation of Diagnostic Molecular Cytopathology, a process that will lead to a change of many paradigms. In general, diagnostic pathology departments will have to reorganize molecular testing to pursue a cost-efficient operation. Sample preparation will have to take into account optimal preservation of nuclear acids. The training of technical staff and the level of laboratory quality control and quality assurance would have to follow strict clinical (not research) laboratory parameters. And, most importantly, those pathologists undertaking molecular diagnosis as a discipline would have to develop their professional expertise within the same framework of fellowships and professional credentials that is offered in other sub-specialties. The price to pay if this effort is not undertaken is too important for the future of diagnostic pathology in general. The increasing characterization of molecular biomarkers with diagnostic, prognostic or therapeutic value is making the analysis of tissue and cell samples prior to treatment a more complex exercise. If cytopathologists and histopathologists allow others to take charge of molecular diagnosis, our overall contribution to the diagnostic process will be diminished. We may not become less important, but we may become less relevant. However, those within the discipline of diagnostic pathology who can combine the clinical background of diseases with the morphological, immunocytochemical and molecular diagnostic interpretation will represent bona fide diagnostic specialists. Such ,molecular cytopathologists' would place themselves at the centre of clinical decision-making. Reference:, 1. Liz Fletcher. Roche leads molecular diagnostics charge. Nature Biotechnol 20, 6,7; 2002 2. Salto-Tellez M and Koay ESC. Molecular Diagnostic Cytopathology - Definitions, Scope and Clinical Utility. Cytopathology 2004; 15:252,255 3. Salto-Tellez M, Zhang D, Chiu LL, Wang SC, Nilsson B, and Koay ESC. Immunocytochemistry Versus Molecular Fingerprinting of Metastases. Cytopathology, 2003 Aug; 14(4):186,90. 4. Chiu LL, Koay SCE, Chan NL and Salto-Tellez M. Molecular Cytopathology: Sequencing of the EWS-WT1 Gene Fusion Transcript in the Peritoneal Effusion of a Patient with Desmoplastic Small Round Cell Tumour. Diagnostic Cytopathology, 2003 Dec; 29(6): 341,3. 5. TM Chin, D Anuar, R Soo, M Salto-Tellez, WQ Li, B Ahmad, SC Lee, BC Goh, K Kawakami, A Segal, B Iacopetta, R Soong. Sensitive and Cost-Effective deptection of epidermal growth factor Receptor Mutations in Small Biopsies by denaturing High Performance Liquid Chromatography. (In press). [source]

Classification of Anxiety and Depressive disorders: problems and solutions

G. Andrews MD
Abstract The American Psychiatric Association and the World Health Organization have begun to revise their classifications of mental disorders. Four issues related to these revisions are discussed in this study: the structure of the classifications, the relationship between categories and dimensions, the sensitivity of categorical thresholds to definitions, and maximizing the utility and validity of the diagnostic process. There is now sufficient evidence to consider replacing the present groupings of disorders with an empirically based structure that reflects the actual similarities among disorders. For example, perhaps the present depression and anxiety disorders would be best grouped as internalizing disorders. Most mental disorders exist on a severity dimension. The reliability and validity of the classification might be improved if we accepted the dimensional nature of disorders while retaining the use of categorical diagnoses to enhance clinical utility. Definitions of the thresholds that define categories are very susceptible to detail. In International Classification of Diseases-11(ICD-11) and Diagnostic and Statistical Manual of Mental Disorders-V (DSM-V), disorders about which there is agreement should be identically defined, and disorders in which there is disagreement should be defined differently, so that research can identify which definition is more valid. The present diagnostic criteria are too complex to have acceptable clinical utility. We propose a reduced criterion set that can be remembered by clinicians and an enhanced criterion set for use with decision support tools. Depression and Anxiety 25:274,281, 2008. © 2008 Wiley-Liss, Inc. [source]

Acquired Melanocytic Lesions and the Decision to Excise: Role of Color Variegation and Distribution as Assessed by Dermoscopy

Stefania Seidenari MD
Background Because melanoma may sometimes be difficult to differentiate from nevi with clinical atypia, many benign lesions also undergo surgical removal. Objective To assess color type and distribution in dermoscopic melanocytic lesion images and to analyze the influence of color parameters on the diagnostic process and the decision to excise. Methods Overall, 603 images, referring to 112 melanomas and 491 nevi, were retrospectively subdivided into four groups: "clearly benign,""follow-up,""dermoscopic atypical nevi," and "dermoscopic melanomas," according to their dermoscopic aspects. The frequency of color type, number, and asymmetry were evaluated on digital images. Results With respect to lesions not eligible for excision according to dermoscopy (but excised for cosmetic reasons), those excised with a suspicion of malignancy showed a higher number of colors, whose distribution was also more asymmetric. Moreover, the frequency of the presence of black and blue-gray progressively increased from clearly benign lesions to atypical nevi and dermoscopic melanomas. Conclusion In dermoscopic images, color parameters are essential elements for the diagnosis of atypical nevus, which can be differentiated from both a clearly benign lesion and a melanoma. Furthermore, pigmentation asymmetry and the presence of blue-gray represent the main color features, which should lead to the decision to excise. THIS STUDY WAS PARTIALLY SUPPORTED BY A GRANT FROM MINISTERO ISTRUZIONE UNIVERSITĒ E RICERCA. [source]

An Epidemiologic Study of Closed Emergency Department Malpractice Claims in a National Database of Physician Malpractice Insurers

Terrence W. Brown MD
Abstract Objectives:, The objective was to perform an epidemiologic study of emergency department (ED) medical malpractice claims using data maintained by the Physician Insurers Association of America (PIAA), a trade association whose participating malpractice insurance carriers collectively insure over 60% of practicing physicians in the United States. Methods:, All closed malpractice claims in the PIAA database between 1985 and 2007, where an event in an ED was alleged to have caused injury to a patient 18 years of age or older, were retrospectively reviewed. Study outcomes were the frequency of claims and average indemnity payments associated with specific errors identified by the malpractice insurer, as well as associated health conditions, primary specialty groups, and injury severity. Indemnity payments include money paid to claimants as a result of settlement or court adjudication, and this financial obligation to compensate a claimant constitutes the insured's financial liability. These payments do not include the expenses associated with resolving a claim, such as attorneys' fees. The study examined claims by adjudicatory outcome, associated financial liability, and expenses of litigation. Adjudicatory outcome refers to the legal disposition of a claim as it makes its way into and through the court system and includes resolution of claims by formal verdict as well as by settlement. The study also investigated how the number of claims, average indemnity payments, paid-to-close ratios (the percentage of closed claims that resolved with a payment to the plaintiff), and litigation expenses have trended over the 23-year study period. Results:, The authors identified 11,529 claims arising from an event originating in an ED, representing over $664 million in total liability over the 23-year study period. Emergency physicians (EPs) were the primary defendants in 19% of ED claims. The largest sources of error, as identified by the individual malpractice insurer, included errors in diagnosis (37%), followed by improper performance of a procedure (17%). In 18% of claims, no error could be identified by the insurer. Acute myocardial infarction (AMI; 5%), fractures (6%), and appendicitis (2%) were the health conditions associated with the highest number of claims. Over two-thirds of claims (70%) closed without payment to the claimant. Most claims that paid out did so through settlement (29%). Only 7% of claims were resolved by verdict, and 85% of those were in favor of the clinician. Over time, the average indemnity payments and expenses of litigation, adjusted for inflation, more than doubled, while both the total number of claims and number of paid claims decreased. Conclusions:, Emergency physicians were the primary defendants in a relatively small proportion of ED claims. The disease processes associated with the highest numbers of claims included AMI, appendicitis, and fractures. The largest share of overall indemnity was attributed to errors in the diagnostic process. The financial liability of medical malpractice in the ED is substantial, yet the vast majority of claims resolve in favor of the clinician. Efforts to mitigate risk in the ED should include the diverse clinical specialties who work in this complex environment, with attention to those health conditions and potential errors with the highest risk. ACADEMIC EMERGENCY MEDICINE 2010; 17:553,560 © 2010 by the Society for Academic Emergency Medicine [source]

Diagnostic expert systems: a method for engineering knowledge used in sequential diagnosis

EXPERT SYSTEMS, Issue 4 2000
Silvano Mussi
The paper presents a method for helping knowledge engineers in modelling the knowledge involved in sequential diagnosis. In particular, we consider sequential diagnosis as a process which occurs in the following type of scenario: (1) there exist some candidate hypotheses which are to be pursued; (2) for each hypothesis there are some alternative tests which might be executed to pursue it; (3) the available knowledge about the world precludes projecting into the future (in other words, the available knowledge about the world does not afford the information needed for planning sequences of tests, i.e. for projecting the consequences of possible sequences of actions and picking the best sequence); (4) the choice of the next test (or tests) is made on the basis of the current state of knowledge; (5) the outcome of a test execution is affected by uncertainty. The suggested method addresses the problem of engineering the knowledge experts use for making decisions under uncertainty. A practical example of the method is also presented: at any time of the diagnostic process the expert is provided with a dynamically updated list of suggested tests in order to support him or her in the decision-making problem about which test to execute next. [source]

Diagnosing cancer: changing patterns of care

E. Lim
Abstract We prospectively assessed 100 consecutive inpatient referrals made to the Medical Oncology Unit. The major end-point was the time to diagnostic biopsy. Referral trends and treatment outcomes were also recorded. Our results show that the referring units undertook the diagnostic process in the vast majority and the time to inpatient diagnostic biopsy has fallen from 10 to 4.6 days, compared with a similar study 13 years ago. This emphasizes the changing role of the oncologist in current day multidisciplinary cancer care. [source]

Review of pulp sensibility tests.

Part I: general information, thermal tests
Jafarzadeh H, Abbott PV. Review of pulp sensibility tests. Part ,: general information and thermal tests. International Endodontic Journal, 43, 738,762, 2010. Abstract A major, and essential, part of the diagnostic process for pulp disease is the use of pulp sensibility tests. When diagnosing pulp pain, these tests can be used to reproduce the symptoms reported by the patient to diagnose the diseased tooth as well as the disease state. However, a major shortcoming with these tests is that they only indirectly provide an indication of the state of the pulp by measuring a neural response rather than the vascular supply, so both false positive and false negative results can occur. The relevant literature on pulp sensibility tests in the context of endodontics up to January 2009 was reviewed using PubMed and MEDLINE database searches. This search identified papers published between November 1964 and January 2009 in all languages. Thermal tests have been used as an integral part of dental examinations. Two types of thermal tests are available, one uses a cold stimulus and the other uses a hot stimulus, and each has various methods of delivery. If these tests are used properly, injury to the pulp is highly unlikely. A review of the literature regarding the rationale, indications, limitations, and interpretation of thermal tests, the value of these diagnostic tests, as well as a discussion of the important points about each of these tests is presented. [source]

Alzheimer's disease in real life , the dementia carer's survey

Jean Georges
Abstract Background Informal care from relatives provides the foundation of care for people with Alzheimer's disease (AD). It is important to understand the conditions under which carers perform their, often neglected, task. The dementia carer's survey aimed to identify carers' needs, differences between countries with regard to dementia care and the level of satisfaction of carers with utilised services. Methods The survey was conducted through Alzheimer Europe's member organisations in France, Germany, Poland, Spain and UK (Scotland). The survey was in the form of a questionnaire, and topics addressed included: demographics of carers and people with AD; time spent caring; disclosure of diagnosis; symptoms prompting diagnosis; diagnostic process; current and most distressing symptoms; carers' information requirements; evaluation of services. Results Each country had ,200 responders. Time spent caring increases with disease severity, and 50% of carers of people with late-stage dementia spent more than 10,h/day caring. Activities of daily living and behaviour were cited as the most problematic symptoms, reported by 68% and 50% of carers, respectively. Provision of information on all aspects of AD was felt to be inadequate, with key services such as home support not available to the majority of carers. Only 17% of carers considered the level of care for the elderly in their country as good. Conclusions Further development of services and information provision are required to help carers in their everyday caring, including coping with problematic symptoms influencing areas such as activities of daily living and behaviour. Copyright © 2008 John Wiley & Sons, Ltd. [source]

Accuracy and Efficiency of Computer-Aided Nursing Diagnosis

Sachiko Kurashima MSN
PURPOSE.,This study aims to determine whether a computer-aided nursing (CAN) diagnosis system improves diagnostic accuracy and efficiency. METHODS.,A randomized crossover trial was performed using two kinds of case studies with 42 nurses as subjects. The subjects were divided into a group using the CAN diagnosis system and a group using a handbook of nursing diagnosis. Degree of accuracy was judged by using Lunney's seven-point interval scale, while efficiency was evaluated by time required for diagnosis. FINDINGS.,There was no significant difference between the two groups in terms of diagnostic accuracy; however, time required for diagnosis was significantly shorter for subjects who used the CAN diagnosis system than for those who did not. Multiple regression analysis showed that the use of the CAN diagnosis system was the only factor associated with the time required for making the nursing diagnosis. CONCLUSIONS.,The use of the CAN diagnosis system improved the efficiency of the diagnostic process without reducing the level of accuracy of nursing diagnoses. PRACTICE IMPLICATIONS.,The use of a computerized system should be a useful tool for implementation of standardized nursing terminologies. [source]

Contamination: Nursing Diagnoses with Outcome and Intervention Linkages

Laura V. Polk DNSc
PURPOSE.,To relate the collaborative processes involved in the evolution of environmental nursing diagnoses and the linkages between two new nursing diagnoses and their associated interventions and outcomes; to describe the environmental health implications of contamination. DATA SOURCES.,Published research articles, official reports, textbooks, and collaborative discussion with experts in community and global health. DATA SYNTHESIS.,Reflection following review of the literature and collaboration with experts led to the development of a new schema for environmental diagnoses and development of two new diagnoses, allowing for greater clarity and distinction between the contamination diagnoses and risk for poisoning diagnosis. CONCLUSIONS.,An environmental nursing diagnosis schema, with its emphasis on contamination, infection, and violence, provides nurses with a holistic framework for making judgments about environmental influences related to individual, family, community, and global health. The diagnoses of Contamination and Risk for Contamination provide necessary language to describe human responses and risk states that may arise following exposure to environmental contaminants. PRACTICE IMPLICATIONS.,Development of environmental diagnostic labels and delineation of the linkages to nursing outcomes and interventions will allow nurses to take active roles in identifying environmental components that affect health and planning care that responds to environmental health needs. Greater clarity in the use of language will allow nurses to incorporate environmental concepts appropriately in nursing assessments and improve the accuracy of the diagnostic process and selection of distinct interventions and outcomes. This will result in better outcomes for patients and communities and permit greater accountability of nursing's contribution to environmental health. [source]

Nursing Diagnoses in Psychiatric Acute Wards in Switzerland and Austria

Harald Stefan
PURPOSE To examine the frequency and quality of documented nursing diagnoses and to compare the diagnoses regarding ward and patient characteristics. METHODS The following data were collected from 11 acute care wards in five psychiatric hospitals in Switzerland and Austria: documented nursing diagnoses, demographic characteristics of an unselected sample of 30 consecutively discharged patients in each ward, ward data, and data from three randomly selected complete charts from each ward. Free-text diagnoses were recoded into NANDA terminology. Frequencies were calculated and compared across settings and regarding patient and ward characteristics. Diagnoses were examined for quality and structure of the diagnostic statements. FINDINGS Mean age of patients was 40 ± 13 years, and the main psychiatric diagnoses were schizophrenia, mood disorders, substance abuse, and neurotic and personality disorders. Of the 664 nursing diagnoses located in 330 nursing records, 635 were proper nursing diagnoses; 83% of patients had at least 1 nursing diagnosis (X,= 2). The number of diagnoses correlated weakly with patient length of stay. Of the nursing diagnoses, 20% were made on admission day, and the majority of nursing diagnoses was active at discharge. Ninety percent of the diagnoses were formulated using NANDA terminology. The most frequently used categories were coping-related diagnoses,disturbed thought processes and self-care deficits. Numerous problem,etiology,symptom (PES)formatted diagnoses had diagnostic labels nested within the etiology. Countryand setting-specific similarities and differences were found with a significantly higher number of nursing diagnoses in Austria where use is mandated. In Austria, more somatic nursing diagnoses were found. The most frequent nursing diagnoses were similar in both countries. DISCUSSION The number of diagnoses corresponds to results reported in the international literature suggesting the justification for international comparison. Ten categories represent 60% of nursing diagnoses. Approximately 50% of nursing diagnoses were made in the first days after hospitalization, rendering their use practicable. A minority of nursing diagnoses were discontinued, possibly suggesting that some problems are difficult to solve or evaluate. The PES format and the NANDA terminology are used quite extensively even when not mandatory. NANDA terminology is deemed useful and practical, but problems occur when nursing diagnoses CONCLUSIONS Nursing diagnoses represent the main areas of nursing, but cultural differences exist regarding the diagnostic process. Thus, research is needed to test the appropriateness of nursing diagnoses to characterize nursing populations. [source]

The Validity of a Personality Disorder Diagnosis for People with an Intellectual Disability

Jessica Moreland
Background, It has long been appreciated that people with intellectual disabilities experience mental health problems. Studies into the prevalence of personality disorder in the population of people with an intellectual disability indicate significant variations, which have no clear explanation. Method, Work on personality disorder and personality is reviewed. Results, This article will outline some of the reasons for the variations in the reported prevalence figures including the impact of diagnostic overshadowing, problems inherent within the diagnostic classification systems and instruments that have a significant impact upon the reliability of a diagnosis. It will also argue that there are some fundamental issues relating to the validity of the construct of personality disorder and its application to the population of people with intellectual disabilities. The article notes that the model of personality, which in itself is not without critics, is derived from research on the general population and has not been integrated with personality research conducted within the population of people with an intellectual disability. Conclusion, It is suggested that the current diagnostic systems need to be reviewed in the context of an existing evidence base from within the field of intellectual disabilities. There are grounds to be cautious with the current diagnostic process and to question its clinical utility. Furthermore, diagnosis may only serve as an intermediate step and as part of a more detailed nomothetic approach. [source]

Quantitative evaluation of prostatectomy for benign prostatic hypertrophy under a national health insurance law: a multi-centre study

D. Pilpel PhD
Abstract Assessing regional variation between various medical centres in diagnostic and surgical processes is an approach aimed at evaluating the quality of care. This study analyses the differences between eight medical centres in Israel, where all citizens are covered by medical insurance, through the National Health Insurance Law (NHIL). The analysis refers to the diagnostic process, type of surgery and immediate post-surgical complications associated with prostatectomy for benign prostatic hypertrophy (BPH), which is the most frequent surgical procedure performed on men aged 50+. The study sample was comprized of 261 consecutive prostatectomy patients operated on in eight Israeli medical centres (MC), located in various parts of the country, between November 1996 and April 1997. Co-operation with participating directors of surgical wards was obtained after confidentiality of information had been assured. Surgeons in selected departments abstracted data routinely recorded in the patient's file and filled-out a standard one-page questionnaire. The following items were included: age, the presence of accompanying chronic diseases, preoperative tests, type of operation, and post-surgical complications. In the various MCs 32.6% of the patients underwent more than five preoperative tests ranging from 8.9% to 88.9% (<0.01). Assessment of kidney and bladder normality ranged from 75% to 100% (P < 0.01). The rate of patients whose prostatic symptoms (I-PSS) were assessed ranged from 0% to 79% (P < 0.01). There were also differences in severity of prostatism between the MCs, with severe symptoms ranging from 54.0% to 89.3% (P < 0.05), for type of operation performed (for ,open' prostatectomies, 35.4% to 68.0%, P < 0.01) and post-operative complications (19.0% to 41.6%, P = 0.07). After controlling for case-mix, type of operation was the most important predictor for post-surgical complications. MCs with low volume of surgeries had a higher rate of postoperative complications. We conclude that diagnostic and type of operation and post-surgical complications differed between various MCs. Participating surgeons were willing to fill out a one-page standard questionnaire from data routinely recorded in patients' files. [source]

Recognizing And Treating Non-Infectious Rhinitis

Terrye Mastin APRN
Purpose To increase clinicians' familiarity with nonallergic and mixed rhinitis and to differentiate these from allergic rhinitis, thus providing for an accurate diagnosis and facilitating a successful initial treatment program. Data Sources A Medline search of published journal articles was supplemented with known books and proceedings pertaining to rhinitis. Conclusions Although there is significant overlap of symptoms among the three types of rhinitis (i.e., allergic, nonallergic, and mixed), the patient history often contains clues that can aid in establishing a correct diagnosis. The new Patient Rhinitis Screen, a questionnaire developed for use in the primary care arena, facilitates the diagnostic process. Implications for Practice As the most common condition in the outpatient practice of medicine, rhinitis is frequently treated by primary care practitioners. Recent guidelines for the diagnosis and management of rhinitis suggest that a specific diagnosis of allergic, nonallergic, or mixed rhinitis leads to more effective treatment strategies. The result is successful and efficient care utilizing, as appropriate, broad-based and symptom-specific therapies. [source]

Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression

V. Arechavala-Gomeza
V. Arechavala-Gomeza, M. Kinali, L. Feng, S. C. Brown, C. Sewry, J. E. Morgan and F. Muntoni (2010) Neuropathology and Applied Neurobiology36, 265,274 Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression Aims: The quantification of protein levels in muscle biopsies is of particular relevance in the diagnostic process of neuromuscular diseases, but is difficult to assess in cases of partial protein deficiency, particularly when information on protein localization is required. The combination of immunohistochemistry and Western blotting is often used in these cases, but is not always possible if the sample is scarce. We therefore sought to develop a method to quantify relative levels of sarcolemma-associated proteins using digitally captured images of immunolabelled sections of skeletal muscle. Methods: To validate our relative quantification method, we labelled dystrophin and other sarcolemmal proteins in transverse sections of muscle biopsies taken from Duchenne muscular dystrophy and Becker muscular dystrophy patients, a manifesting carrier of Duchenne muscular dystrophy and normal controls. Results: Using this method to quantify relative sarcolemmal protein abundance, we were able to accurately distinguish between the different patients on the basis of the relative amount of dystrophin present. Conclusions: This comparative method adds value to techniques that are already part of the diagnostic process and can be used with minimal variation of the standardized protocols, without using extra amounts of valuable biopsy samples. Comparative quantification of sarcolemmal proteins on immunostained muscle sections will be of use to establish both the abundance and localization of the protein. Moreover, it can be applied to assess the efficacy of experimental therapies where only partial restoration or upregulation of the protein may occur. [source]

A Case of Juvenile Bullous Pemphigoid, Successful Treatment with Diaminodiphenylsulfone and Prednisone

Karen A. Marcus M.D.
Because of the wide variety of bullous disorders and the considerable clinical overlap between them, it is difficult to differentiate one from the other on clinical features alone. Appropriate additional investigations are required to confirm the diagnosis. These include routine histologic examination of the skin, in addition to immunohistochemical staining and immune serology. Here, we present a rare case of juvenile bullous pemphigoid, which we will use to illustrate the difficulties encountered in the diagnostic process and to show how acquired blistering disorders of childhood should be approached. [source]

Is home spirometry useful in diagnosing asthma in children with nonspecific respiratory symptoms?,

Alwin F.J. Brouwer MD
Abstract Background Variation of lung function is considered to be a hallmark of asthma. Although guidelines recommend measuring it as a diagnostic tool for asthma, the usefulness of this approach has not been studied in children. Aim To assess the usefulness of home spirometry in children with nonspecific lower respiratory tract symptoms, to diagnose or exclude asthma. Methods In school-aged children, referred by their general practitioner because of chronic respiratory symptoms of unknown origin, the diagnosis of asthma was made or excluded by a pediatric pulmonologist (gold standard), based on international guidelines and a standardized protocol. Additionally, children measured peak expiratory flow (PEF) and forced expiratory flow in 1,sec (FEV1) twice daily for 2 weeks on a home spirometer, from which diurnal variation was calculated. These results (index test) were not revealed to the pediatric pulmonologist. The value of home spirometry to diagnose asthma was calculated. Results Sixty-one children (27 boys) were included (mean age: 10.4 years; range: 6,16 years). Between asthma and no asthma, the mean difference in PEF variation was 4.4% (95% CI: 0.9,7.9; P,=,0.016) and in FEV1 variation 4.5% (95% CI: 1.6,7.4; P,=,0.003). Sensitivity and specificity, based on the 95th-centile of the reference values for PEF and FEV1 variation (12.3% and 11.8%, respectively) were 50% and 72% for PEF variation and 45% and 92% for FEV1 variation. The likelihood ratio was 1.8 for PEF and 5.6 for FEV1. Conclusions The contribution of home spirometry in the diagnostic process for asthma in schoolchildren with nonspecific respiratory symptoms is limited. Pediatr Pulmonol. 2010; 45:326,332. © 2010 Wiley-Liss, Inc. [source]

Chronic wet cough: Protracted bronchitis, chronic suppurative lung disease and bronchiectasis

A.B. Chang PhD
Abstract The role of persistent and recurrent bacterial infection of the conducting airways (endobronchial infection) in the causation of chronic respiratory symptoms, particularly chronic wet cough, has received very little attention over recent decades other than in the context of cystic fibrosis (CF). This is probably related (at least in part) to the (a) reduction in non-CF bronchiectasis in affluent countries and, (b) intense focus on asthma. In addition failure to characterize endobronchial infections has led to under-recognition and lack of research. The following article describes our current perspective of inter-related endobronchial infections causing chronic wet cough; persistent bacterial bronchitis (PBB), chronic suppurative lung disease (CSLD) and bronchiectasis. In all three conditions, impaired muco-ciliary clearance seems to be the common risk factor that provides organisms the opportunity to colonize the lower airway. Respiratory infections in early childhood would appear to be the most common initiating event but other conditions (e.g., tracheobronchomalacia, neuromuscular disease) increases the risk of bacterial colonization. Clinically these conditions overlap and the eventual diagnosis is evident only with further investigations and long term follow up. However whether these conditions are different conditions or reflect severity as part of a spectrum is yet to be determined. Also misdiagnosis of asthma is common and the diagnostic process is further complicated by the fact that the co-existence of asthma is not uncommon. The principles of managing PBB, CSLD and bronchiectasis are the same. Further work is required to improve recognition, diagnosis and management of these causes of chronic wet cough in children. Pediatr Pulmonol. 2008; 43:519,531. © 2008 Wiley-Liss, Inc. [source]

Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE),

Sandra Mercier
Abstract Holoprosencephaly (HPE) is a structural anomaly of the developing brain in which the forebrain fails to divide into two separate hemispheres and ventricles. The poor prognosis in the most severe forms justifies the importance of genetic counseling in affected families. The genetic counseling requires a thorough clinical approach given the extreme variability of phenotype and etiology. The karyotype is an essential diagnostic tool. Since mutations in the four major genes (SHH, ZIC2, SIX3, and TGIF) have been identified in HPE patients, molecular study is performed routinely in nonsyndromic HPE. New molecular tools, such as array-CGH analysis, are now part of the diagnostic process. Prenatal diagnosis is based primarily on fetal imaging, but "molecular" prenatal diagnosis can be performed if a mutation has been previously identified in a proband. Interpretations of molecular diagnosis must be given with caution, given the lack of strict genotype,phenotype correlation, and should be offered in addition to fetal imaging, using ultrasound followed by fetal MRI. We report on our experience of 15 molecular prenatal diagnoses from chorionic villi or amniotic fluid sampling. In eight instances, we were able to reassure the parents after taking into account the absence of the mutation in the fetus, previously identified before in a parent and/or a proband. Fetal RMI was normal later in pregnancy, and no child had medical problems after birth. The mutation was found in the seven other cases: four children were born, either without brain malformation and asymptomatic, or had a less severe form than the index case. © 2010 Wiley-Liss, Inc. [source]

Comparison of ecological validity of learning disabilities diagnostic models

Vincent J. Dean
The purpose of this article is to examine models designed for the determination of a learning disability and compare them to specific criteria to determine whether the given diagnostic process is ecological in nature. The traditional child-centered deficit model (CCD), Relative Achievement Discrepancy model (RAD), and Responsiveness to Intervention model (RTI) were evaluated against the following three questions: (a) Does the environmental context of the assessment adequately represent the real-life situation? (b) Are the assessment stimuli relevant to the daily classroom activity? (c) Are the student behavior and/or required response natural and representative of the construct being assessed? The results of this examination suggested that the RTI has the most potential for ecological validity, but currently falls short. Suggestions for future research are included. © 2006 Wiley Periodicals, Inc. Psychol Schs 43: 157,168, 2006. [source]

Change in post-traumatic stress symptoms following psychosocial treatment for breast cancer

Ellen G. Levine
The diagnosis of cancer is a traumatic experience, which may result in post-traumatic stress symptoms, such as arousal, re-experiencing the diagnostic process and avoidance. Changes in post-traumatic symptoms were assessed in 181women with breast cancer who participated in either a standard support group or complementary/alternative (CAM) oriented intervention. At baseline 26 women were classified as having significant PTSD symptoms. After the 12-week sessions, significant decreases in the number of women with PTSD was seen in both interventions, however it was more evident in the Standard group where there was a 91% reduction in the number of women with PTSD versus an 80% reduction in the CAM group. For women with PTSD both groups showed significant decreases in overall PTSD symptoms and arousal. However, only the women in the Standard support group showed significant decreases in re-experiencing and avoidance symptoms. For the entire sample only women in the Standard group had significant decreases in overall PTSD, re-experiencing, and arousal. These results indicate that PTSD symptoms can be prevalent among women with breast cancer, and that while psychosocial interventions can be effective in reducing this type of distress, a support group might be more effective than a more complementary/alternative oriented intervention. Copyright © 2005 John Wiley & Sons, Ltd. [source]

The evolving experience of illness for Chinese women with breast cancer: A qualitative study

Wendy W.T. Lam
The study of illness meaning in cancer in western communities has usually focused on causal attributions. We report a phenomenological study of 17 Hong Kong Chinese women with breast cancer, interviewed on completion of initial treatment, and describe how the illness experience and hence, meaning evolves for women in the Hong Kong Chinese culture. Themes arising from the identification and treatment of the disease include the difficulty of living in uncertainty and of maintaining and regaining normalcy in a superstitious society. The initial uncertainty of disease detection and the diagnostic process are characterized by shock and disbelief mingled with fear of death. Treatment choice presents women with difficulties arising from more uncertainty over the pressure to make quick decisions and the dilemma of death or mutilation. Following treatment, re-evaluation, re-prioritizing and positive life-re-evaluation occur. Changes in appearance proved problematic for those women who tried to hide their disease to protect themselves against stigmatization and social exclusion. In many ways, these findings parallel studies on western populations, suggesting that a common disease,medical care process is a predominant influence in shaping breast cancer experience. Implications for care are drawn from these data. Copyright © 2002 John Wiley & Sons, Ltd. [source]

The 2001 Giessen Cohort Study on patients with prostatitis syndrome , an evaluation of inflammatory status and search for microorganisms 10 years after a first analysis

ANDROLOGIA, Issue 5 2003
H. Schneider
Summary. During the last years tremendous changes have occurred in the epidemiologic knowledge and the diagnostic process of the prostatitis syndrome. A new worldwide-accepted classification system has become the gold standard in contemporary literature. The aim of this study was to compare the inflammatory and infectious status of men with prostatitis syndrome with results from our study cohort from 1992. A total of 168 symptomatic men (mean age 43.2 years; range 18,79) attending the Giessen prostatitis outpatient department were included. All men underwent a standard four-glass-test including leucocyte analysis in all specimens. A routine search for Ureaplasma urealyticum and Chlamydia trachomatis was performed. Ejaculate analysis following World Health Organization (WHO) criteria has been performed including the evaluation of increased number of peroxidase-positive leucocytes (PPL). Men were classified according to the National Institutes of Health (NIH) prostatitis classification. The distribution of patients according to NIH criteria is as follows: NIH II (4.2%), NIH IIIA (31.5%), NIH IIIB (50.0%) and urethroprostatitis (14.3%). Chlamydial infection was present in one man (0.6%). Only two men with increased leucocytes in prostatic secretions demonstrated , 106 million mF1 PPL in semen. As compared with our cohort study 10 years ago, the proportion of the different subtypes of the prostatitis syndrome have remained stable. The aetiological spectrum of chronic bacterial prostatitis has not changed whereas, in contrast, the prevalence of C. trachomatis now is found to be strikingly reduced. Using the WHO cutpoints for leucocytospermia the inclusion of seminal leucocytes to the diagnostic process has not influenced the distribution between inflammatory (type NIH IIIA) and noninflammatory (type NIH IIIB) chronic pelvic pain syndrome. [source]

Clinical score for nonbacterial osteitis in children and adults

Annette F. Jansson
Objective To accurately differentiate nonbacterial osteitis (NBO) from other bone lesions by applying a clinical score through the use of validated diagnostic criteria. Methods A retrospective study was conducted to assess data on patients from a pediatric clinic and an orthopedic tertiary care clinic, using administrative International Classification of Diseases codes as well as laboratory and department records from 1996 to 2006. Two hundred twenty-four patients older than age 3 years who had either NBO (n = 102), proven bacterial osteomyelitis (n = 22), malignant bone tumors (n = 48), or benign bone tumors (n = 52) were identified by chart review. Univariate logistic regression was used to determine associations of single risk factors with a diagnosis of NBO, and multivariable logistic regression was used to assess simultaneous risk factor associations with NBO. Results NBO was best predicted by a normal blood cell count (odds ratio [OR] 81.5), symmetric bone lesions (OR 30.0), lesions with marginal sclerosis (OR 26.8), normal body temperature (OR 20.3) a vertebral, clavicular, or sternal location of lesions (OR 13.9), presence of >1 radiologically proven lesion (OR 10.9), and C-reactive protein level ,1 mg/dl (OR 6.9). The clinical score for a diagnosis of NBO based on these predictors ranged from 0 to 63. A score for NBO of ,39 had a positive predictive value of 97% and a sensitivity of 68%. Conclusion The proposed scoring system helps to facilitate the diagnostic process in patients with suspected NBO. Use of this system might spare unnecessary invasive diagnostic and therapeutic procedures. [source]

Hudson Strait ice streams: a review of stratigraphy, chronology and links with North Atlantic Heinrich events

BOREAS, Issue 1 2003
John T. Andrews
We review the literature on the occupation of Hudson Strait (800 km long by 90 km wide) by late Quaternary ice streams, and the importance of Hudson Strait as the major source for sediments associated with the North Atlantic Heinrich (H-) events. Glacial erosion of the Paleozoic outcrop on the floor of Hudson Strait and Ungava Bay resulted in the export of detrital carbonate-rich sediments to ice-proximal locations on the slope and floor of the NW Labrador Sea, mainly in meltwater and turbidite plumes, and to ice distal sites thousands of kilometres away largely as iceberg-rafted detritus (IRD). Erosion of bedrock from the Precambrian Superior and Churchill provenances of the Canadian Shield is also indicated by the isotopic analyses of sediments. The major late Quaternary H-events (H-4, H-2 and H-1) are represented in southeast Baffin Island slope sediments as detrital carbonate-rich intervals up to 40 cm in thickness and appear to represent flow along the axis of the Strait. However, the late marine isotope stage #3 event, H-3 (,27 ka), and a younger event (H-0, ,11 ka), are not as dominant in the sedimentary record and probably represent a different glaciological regime with flow across Hudson Strait from eastern Ungava-Labrador. The freezing-on of sediments by supercooling in the rise from the 900 m deep Eastern Basin to the 400 m sill is proposed as the source of the abundant carbonate-rich glaciomarine sediments some 250 km from the outcrop in Eastern Basin. Sediment transport by meltwater and turbidity currents was the major process during H-events in ice-proximal settings. IRD was not a key diagnostic process at sites fronting Hudson Strait. A key feature in the instability of this ice stream might be the great depth (600 m) at the shelf break, and the deep basin, which lies seaward of the outer Hudson Strait sill. [source]

C-reactive protein in the diagnosis of deep vein thrombosis

Robert A. Bucek
Summary. The role of C-reactive protein (CRP) in the diagnosis of suspected deep vein thrombosis (DVT) and a possible advantage of its additional evaluation with D-dimer has not been clearly evaluated. We therefore studied plasma CRP and D-dimer levels in 233 consecutive patients with suspected DVT; the final diagnosis was based on the results of colour duplex ultrasound or venography. DVT was diagnosed in 31·3%. CRP and D-dimer correlated significantly (r = 0·64, P < 0·01); both were increased significantly in patients suffering from DVT (P < 0·001). Multivariate analysis revealed a significant influence of the presence of DVT (P < 0·001), the presence of malignancy (P < 0·001) and the presence of inflammatory diseases (P = 0·009) on plasma CRP, while there was no significant influence of the duration of symptoms (P = 0·30). The sensitivity (75%vs 93%) to specificity (69%vs 55%) relationship showed inferior results for CRP compared with D-dimer; its additional evaluation did not improve the diagnostic value of D-dimer. We conclude that CRP can provide additional information neither for the diagnostic process in patients with suspected DVT nor for the differential diagnosis of DVT and inflammatory diseases. [source]

Definition of restless legs syndrome, how to diagnose it, and how to differentiate it from RLS mimics

Heike Benes MD
Abstract Restless legs syndrome (RLS) is a clinical diagnosis based primarily on self-reports of individuals. The International RLS Study Group has published diagnostic criteria that are essential for an operational diagnosis of RLS; further clinical features are considered by the group supportive for or associated with RLS. However, sensitivity and specificity are not perfect and "mimics" of RLS have been reported, i.e., other conditions like nocturnal cramps sometimes can appear to fulfill the essential diagnostic criteria indicating the need for more thorough understanding of the diagnostic criteria and better differential diagnoses. To contribute to the accuracy of diagnostic processes in RLS, we recapitulate the definition of RLS as an urge to move focused on the legs (and arms in some patients). This urge to move often but not always occurs together with dysesthesia, i.e. unpleasant abnormal sensations appearing without any apparent sensory stimulation. The urge to move and any accompanying dysesthesia must be engendered by rest, relieved by movement and worse in the evening or night. Succinctly, RLS can be summarized in medical terminology as a "movement-responsive quiescegenic nocturnal focal akathisia usually with dysesthesias." Empirical approaches to investigate the independence of the essential criteria "worsening at night" and "worsening at rest" are reported. Possible differential diagnoses of RLS are discussed under the perspective of the NIH diagnostic criteria of RLS. Standardized methods to assess a RLS diagnosis are presented which might improve differential diagnosis and in general the reliability and validity of RLS diagnosis. © 2007 Movement Disorder Society [source]