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Sample records for disorder diagnostic challenges

  1. Diagnostic Studies of Temporomandibular Disorders: Challenges From an Epidemiologic Perspective

    PubMed Central

    Dworkin, Samuel F.; LeResche, Linda; Von Korff, Michael R.

    1990-01-01

    Adequate data on the incidence, prevalence, natural history, and clinical course of temperomandibular disorders (TMD) and other chronic pain conditions are largely lacking, though the need to derive such basic data is recognized by clinicians, researchers, and public health agencies. This paper discusses challenges to the epidemiologic study of TMD diagnosis. These challenges include: • Case definition: There is currently poor agreement regarding which combinations of clinical and psychosocial findings differentially define cases of TMD • Differentiation of normal variation v pathophysiologic signs: To what extent do commonly gathered clinical measurements constitute pathophysiologic signs of TMD v reflect normal biologic variation • Reliability of clinical measurement: Factors influencing reliability of clinical signs and reliability of examiners have not been adequately assessed • Progressive v self-limiting disease activity: Do TMD subtypes represent a continuum of pathologic disease activity, or nonmutually exclusive categories describing largely symptomatic pain conditions that are selflimiting or stable. It is recommended that epidemiologic studies not be constrained by a priori definitions of TMD subtypes, but continue to gather data on clinical signs and symptoms that have theoretical and clinical relevance to mandibular dysfunction and psychosocial status. An approach is proposed for development of reliable and valid criteria of TMD subtypes suitable for epidemiologic research. PMID:2085194

  2. Genetic findings are challenging the symptom-based diagnostic classification system of mental disorders

    PubMed Central

    ZHANG, Chen

    2016-01-01

    The present diagnostic classification of mental illnesses is primarily based on symptomatology. A recent cross-disorder genome-wide association study revealed that there were genetic similarities between multiple clinically defined diagnoses (including schizophrenia, bipolar disorder, depression, attention deficit hyperactivity disorder, and autism spectrum disorder) on regions of chromosomes 3p21 and 10q24 and single-nucleotide polymorphisms (SNPs) within two L-type voltage-gated calcium channel subunits of CACNA1C and CACNB2. These findings suggest that the pathogenesis of these five independent disorders are related. Such cross-disorder genetic studies challenge the current symptom-based diagnostic classification of mental disorders. Researchers need to identify creative ways to bridge the gap between these two approaches to understanding and labelling mental disorders. PMID:27688643

  3. Genetic findings are challenging the symptom-based diagnostic classification system of mental disorders.

    PubMed

    Zhang, Chen

    2016-02-25

    The present diagnostic classification of mental illnesses is primarily based on symptomatology. A recent cross-disorder genome-wide association study revealed that there were genetic similarities between multiple clinically defined diagnoses (including schizophrenia, bipolar disorder, depression, attention deficit hyperactivity disorder, and autism spectrum disorder) on regions of chromosomes 3p21 and 10q24 and single-nucleotide polymorphisms (SNPs) within two L-type voltage-gated calcium channel subunits of CACNA1C and CACNB2. These findings suggest that the pathogenesis of these five independent disorders are related. Such cross-disorder genetic studies challenge the current symptom-based diagnostic classification of mental disorders. Researchers need to identify creative ways to bridge the gap between these two approaches to understanding and labelling mental disorders. PMID:27688643

  4. Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.

    PubMed

    Laforêt, Pascal; Vianey-Saban, Christine

    2010-11-01

    Disorders of muscle lipid metabolism may involve intramyocellular triglyceride degradation, carnitine uptake, long-chain fatty acids mitochondrial transport, or fatty acid β-oxidation. Three main diseases leading to permanent muscle weakness are associated with severe increased muscle lipid content (lipid storage myopathies): primary carnitine deficiency, neutral lipid storage disease and multiple acyl-CoA dehydrogenase deficiency. A moderate lipidosis may be observed in fatty acid oxidation disorders revealed by rhabdomyolysis episodes such as carnitine palmitoyl transferase II, very-long-chain acyl-CoA dehydrogenase, mitochondrial trifunctional protein deficiencies, and in recently described phosphatidic acid phosphatase deficiency. Respiratory chain disorders and congenital myasthenic syndromes may also be misdiagnosed as fatty acid oxidation disorders due to the presence of secondary muscle lipidosis. The main biochemical tests giving clues for the diagnosis of these various disorders are measurements of blood carnitine and acylcarnitines, urinary organic acid profile, and search for intracytoplasmic lipid on peripheral blood smear (Jordan's anomaly). Genetic analysis orientated by the results of biochemical investigation allows establishing a firm diagnosis. Primary carnitine deficiency and multiple acyl-CoA dehydrogenase deficiency may be treated after supplementation with carnitine, riboflavine and coenzyme Q10. New therapeutic approaches for fatty acid oxidation disorders are currently developed, based on pharmacological treatment with bezafibrate, and specific diets enriched in medium-chain triglycerides or triheptanoin. PMID:20691590

  5. Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.

    PubMed

    Laforêt, Pascal; Vianey-Saban, Christine

    2010-11-01

    Disorders of muscle lipid metabolism may involve intramyocellular triglyceride degradation, carnitine uptake, long-chain fatty acids mitochondrial transport, or fatty acid β-oxidation. Three main diseases leading to permanent muscle weakness are associated with severe increased muscle lipid content (lipid storage myopathies): primary carnitine deficiency, neutral lipid storage disease and multiple acyl-CoA dehydrogenase deficiency. A moderate lipidosis may be observed in fatty acid oxidation disorders revealed by rhabdomyolysis episodes such as carnitine palmitoyl transferase II, very-long-chain acyl-CoA dehydrogenase, mitochondrial trifunctional protein deficiencies, and in recently described phosphatidic acid phosphatase deficiency. Respiratory chain disorders and congenital myasthenic syndromes may also be misdiagnosed as fatty acid oxidation disorders due to the presence of secondary muscle lipidosis. The main biochemical tests giving clues for the diagnosis of these various disorders are measurements of blood carnitine and acylcarnitines, urinary organic acid profile, and search for intracytoplasmic lipid on peripheral blood smear (Jordan's anomaly). Genetic analysis orientated by the results of biochemical investigation allows establishing a firm diagnosis. Primary carnitine deficiency and multiple acyl-CoA dehydrogenase deficiency may be treated after supplementation with carnitine, riboflavine and coenzyme Q10. New therapeutic approaches for fatty acid oxidation disorders are currently developed, based on pharmacological treatment with bezafibrate, and specific diets enriched in medium-chain triglycerides or triheptanoin.

  6. Challenges and Pitfalls Associated with Diagnostic and Prognostic Applications of Functional Neuroimaging in Disorders of Consciousness

    PubMed Central

    Bodien, Yelena G.; Giacino, Joseph T.

    2016-01-01

    The diagnostic assessment of patients with disorder of consciousness is currently based on clinical testing at the bedside and prone to a high error rate in the assessment of the degree of conscious awareness. Investigation of more objective assessment strategies, such as the use of functional magnetic resonance imaging (fMRI) to detect conscious awareness, are becoming increasingly popular in the research community. However, inherent challenges to the use of fMRI threaten its validity as a diagnostic tool and will need to be resolved prior to its integration into the clinical setting. These challenges, which range from the heterogeneity of the patient sample to factors influencing data acquisition and biases in interpretation strategies, are discussed below. Recommendations aimed at mitigating some of the limitations are provided. PMID:27347262

  7. Diagnostic nomenclature for foetal alcohol spectrum disorders: the continuing challenge of causality.

    PubMed

    Miller, A R

    2013-11-01

    Prenatal alcohol exposure is a risk factor for neurologically based cognitive and adaptive disability. Diagnostic nomenclature for prenatally exposed children with cognitive and adaptive disability who lack features for foetal alcohol syndrome (FAS) or partial FAS includes the terms alcohol-related neurodevelopmental disorder (ARND) and foetal alcohol spectrum disorder(s) (FASD). Although these terms are now widely used, this paper argues that both are problematic. ARND is flawed by unjustifiably turning a risk factor into a causal factor and shrouding the result in terminological ambiguity, while FASD is not appropriate as a clinical label, and its use as a proxy for ARND deflects critical attention from the causal inferencing that is integral to diagnosing children with an alcohol-related teratogenic condition. Existing nomenclature is at odds with logical and evidence-based diagnosing and also has implications for interpretation of epidemiological data. Diagnostic nomenclature that is not tightly linked to causal inference is preferable at the present stage of this field's development.

  8. [Frontal mass: diagnostic challenges].

    PubMed

    Rubino, Gina; Correia, Alexandre; Rodrigues, Fernanda

    2012-01-01

    Capnocytophaga spp. are part of the oral flora of humans and animals, being responsible for skin and soft tissues infections and invasive infections. Microbiological identification can be difficult due to its slow growth. We present a case of infection caused by this bacteria in the form of an extracerebral intracranial abscess, presenting as a frontal mass that posed some diagnostic challenges. A surgical drainage was performed together with antibiotic therapy with favourable outcome. This microorganism was identified in the second week of treatment and then a careful history revealed a dog bite days prior to the initial symptoms. This could have been the site of entry to a posterior focalization. PMID:23069241

  9. Anakinra as a diagnostic challenge and treatment option for systemic autoinflammatory disorders of undefined etiology

    PubMed Central

    Harrison, Stephanie R.; McGonagle, Dennis; Nizam, Sharmin; Jarrett, Stephen; van der Hilst, Jeroen; McDermott, Michael F.

    2016-01-01

    BACKGROUND. Some adult patients presenting with unexplained pyrexia, serositis, skin rashes, arthralgia, myalgia, and other symptoms commonly found in autoinflammatory disorders may not fit a specific diagnosis, either because their clinical phenotype is nondiagnostic or genetic tests are negative. We used the term undifferentiated systemic autoinflammatory disorder (uSAID) to describe such cases. Given that well-defined autoinflammatory diseases show responses to IL-1 blockade, we evaluated whether anakinra was useful for both diagnosing and treating uSAID patients. METHODS. We performed a retrospective analysis of consecutive patients presenting with uSAID between 2012–2015 who were treated with the recombinant IL-1 receptor antagonist anakinra. uSAID was diagnosed after excluding malignancy, infection, and pathogenic mutations in known hereditary fever syndromes (HFS) genes and where clinical criteria for adult onset Still’s disease (AOSD) were not met. RESULTS. A total of 11 patients presented with uSAID (5 males and 6 females), with a mean time to diagnosis of 3.5 years (1–8 years). Patients were unresponsive or only partially controlled on disease-modifying antirheumatic drug (DMARD)/steroid treatment. Anakinra controlled symptoms within 4–6 weeks of starting treatment in 9 of 11 cases. Two patients discontinued therapy — one due to incomplete response and another due to severe injection-site reactions. CONCLUSION. This retrospective case series demonstrates that the spectrum of poorly defined autoinflammatory disorders that show responsiveness to anakinra is considerable. Anakinra seems a viable treatment option for these patients, who are unresponsive to standard steroid/DMARD treatments. Moreover, given the mechanisms of action, response to anakinra implicates underlying IL-1 dysregulation in the disease pathogenesis of responding uSAIDs patients.

  10. Anakinra as a diagnostic challenge and treatment option for systemic autoinflammatory disorders of undefined etiology

    PubMed Central

    Harrison, Stephanie R.; McGonagle, Dennis; Nizam, Sharmin; Jarrett, Stephen; van der Hilst, Jeroen; McDermott, Michael F.

    2016-01-01

    BACKGROUND. Some adult patients presenting with unexplained pyrexia, serositis, skin rashes, arthralgia, myalgia, and other symptoms commonly found in autoinflammatory disorders may not fit a specific diagnosis, either because their clinical phenotype is nondiagnostic or genetic tests are negative. We used the term undifferentiated systemic autoinflammatory disorder (uSAID) to describe such cases. Given that well-defined autoinflammatory diseases show responses to IL-1 blockade, we evaluated whether anakinra was useful for both diagnosing and treating uSAID patients. METHODS. We performed a retrospective analysis of consecutive patients presenting with uSAID between 2012–2015 who were treated with the recombinant IL-1 receptor antagonist anakinra. uSAID was diagnosed after excluding malignancy, infection, and pathogenic mutations in known hereditary fever syndromes (HFS) genes and where clinical criteria for adult onset Still’s disease (AOSD) were not met. RESULTS. A total of 11 patients presented with uSAID (5 males and 6 females), with a mean time to diagnosis of 3.5 years (1–8 years). Patients were unresponsive or only partially controlled on disease-modifying antirheumatic drug (DMARD)/steroid treatment. Anakinra controlled symptoms within 4–6 weeks of starting treatment in 9 of 11 cases. Two patients discontinued therapy — one due to incomplete response and another due to severe injection-site reactions. CONCLUSION. This retrospective case series demonstrates that the spectrum of poorly defined autoinflammatory disorders that show responsiveness to anakinra is considerable. Anakinra seems a viable treatment option for these patients, who are unresponsive to standard steroid/DMARD treatments. Moreover, given the mechanisms of action, response to anakinra implicates underlying IL-1 dysregulation in the disease pathogenesis of responding uSAIDs patients. PMID:27699261

  11. Molecular diagnostics of neurodegenerative disorders

    PubMed Central

    Agrawal, Megha; Biswas, Abhijit

    2015-01-01

    Molecular diagnostics provide a powerful method to detect and diagnose various neurological diseases such as Alzheimer's and Parkinson's disease. The confirmation of such diagnosis allows early detection and subsequent medical counseling that help specific patients to undergo clinically important drug trials. This provides a medical pathway to have better insight of neurogenesis and eventual cure of the neurodegenerative diseases. In this short review, we present recent advances in molecular diagnostics especially biomarkers and imaging spectroscopy for neurological diseases. We describe advances made in Alzheimer's disease (AD), Parkinson's disease (PD), Amyotrophic lateral sclerosis (ALS) and Huntington's disease (HD), and finally present a perspective on the future directions to provide a framework for further developments and refinements of molecular diagnostics to combat neurodegenerative disorders. PMID:26442283

  12. [Munchausen's syndrome: a diagnostic challenge].

    PubMed

    Tlacuilo-Parra, J A; Guevara-Gutiérrez, E; Barrón-Pérez, E; Estrada-Contreras, M

    1999-01-01

    The Munchausen's syndrome is a variant of chronic factitious illness with predominantly physical signs and symptoms under the conscious control of the patient without any obvious gain. The disorder has also been called hospital addiction, professional patient syndrome and in the field of dermatology, dermatitis artefacta. Munchausen's syndrome may mimic many different conditions, especially acute abdominal pain, hemorrhagic disorders, rheumatologic manifestations, factitious fever, and injury of skin. We describe a 28-year-old woman, who was admitted at a local teaching hospital and studied during three years with complaints of a bleeding ulcer on the left knee, severe enough to require blood transfusions. Many procedures and tests were performed without pathologic findings. Afterward, she was seen at our institution; during the study, the suspicion had arisen that the patient had manipulated her ulcer, after the diagnosis of factitious disease was communicated, she admitted. Munchausen's syndrome may have a broad spectrum of manifestations; early recognition can avoid unnecessary treatments and invasive diagnostic studies, with their inherent risk of complications.

  13. Eosinophilic ascites: a diagnostic challenge.

    PubMed

    Khalil, Hesham; Joseph, Moby

    2016-01-01

    Eosinophilic ascites is a rare feature of eosinophilic gastroenteritis. We would like to highlight this increasingly recognised diagnosis in a case of unexplained ascites. We present a challenging case of a woman aged 25 years who presented with nausea, vomiting, diarrhoea, generalised abdominal pain and swelling 8-week following delivery of her first baby. Her symptoms were primarily aggravated by eating, and she had also noticed postprandial itching and self-limiting generalised rash. She had a strong history of atopy. Physical examination revealed abdominal tenderness and distension with shifting dullness. Urticarial skin rash was noted on the face, neck, chest and abdomen. Routine biochemistry was normal apart from peripheral eosinophilia. Imaging confirmed moderate ascites. Diagnostic paracentesis showed exudative ascites with numerous eosinophils. Histology of the upper and lower gastrointestinal tract showed infiltration of the oesophageogastroduodenal and rectosigmoid mucosa with eosinophils. The patient significantly improved following a course of steroids and six-food elimination diet. PMID:27600059

  14. Tuberculosis diagnostics: Challenges and opportunities.

    PubMed

    Nema, Vijay

    2012-07-01

    Tuberculosis (TB) has been a disease affecting almost all parts of the world since ages. Lot many efforts came in the past for improving diagnosis and treatment. Also, an effective vaccine has been sought after for long. With the emergence of resistant strains of Mycobacterium tuberculosis, the causal organisms of tuberculosis, and complexities emerging due to other associated infections and disease conditions, there is a desperate need for further research input in the field. Be it the better medication and care or better resistance management, proper diagnostics holds the key to success. It has been observed that a high burden of the disease was accompanied by resource limitations and poor research set-up. The scenario remained like this for several decades. With the refreshed vision of resourceful countries and funding agencies, funding is being provided in many areas of research in tuberculosis diagnosis and treatment. This review has been written with an aim to bring forth the limitations of available methods in the field of diagnostics and making researchers aware about the changing scenario with better funding opportunities and support. The author visualizes an enthusiasm from all over the world for the development of better modalities and urges scientists to join the struggle at this very perfect time to take the challenge and come forward with innovations in this field. PMID:22919166

  15. A personality trait model for the Diagnostic and Statistical Manual of Mental Disorders (DSM): the challenges ahead.

    PubMed

    Krueger, Robert F; Eaton, Nicholas R

    2010-04-01

    We were sincerely flattered to discover that John Gunderson, Michael First, Paul Costa, Robert McCrae, Michael Hallquist, and Paul Pilkonis provided commentaries on our target article. In this brief response, we cannot hope to discuss the myriad points raised by this august group. Such a task would be particularly daunting given the diversity of the commentaries. Indeed, the diversity of the commentaries provides a kind of "metacommentary" on the state of personality and psychopathology research. That is, the intellectual diversity contained in the commentaries underlines the substantial challenges that lie ahead of us, in terms of articulating a model of personality and psychopathology with both scientific validity and clinical applicability.

  16. The Sleepy Teenager – Diagnostic Challenges

    PubMed Central

    Landtblom, Anne-Marie; Engström, Maria

    2014-01-01

    The sleepy teenager puts the doctor in a, often tricky, situation where it must be decided if we deal with normal physiology or if we should suspect pathological conditions. What medical investigations are proper to consider? What differential diagnoses should be considered in the first place? And what tools do we actually have? The symptoms and problems that usually are presented at the clinical visit can be both of medical and psychosocial character – and actually they are often a mixture of both. Subsequently, the challenge to investigate the sleepy teenager often includes the examination of a complex behavioral pattern. It is important to train and develop diagnostic skills and to realize that the physiological or pathological conditions that can cause the symptoms may have different explanations. Research in sleep disorders has shown different pathological mechanisms congruent with the variations in the clinical picture. There are probably also different patterns of involved neuronal circuits although common pathways may exist. The whole picture remains to be drawn in this interesting and challenging area. PMID:25136329

  17. Symptomatic retroperitoneal cyst: a diagnostic challenge.

    PubMed

    Renzulli, Pietro; Candinas, Daniel

    2009-03-01

    Retroperitoneal cystic masses pose an important diagnostic and therapeutic challenge. Simple drainage, internal or external, is usually not sufficient. We report a case of a large symptomatic retroperitoneal cyst and its management.

  18. Economic challenges associated with tuberculosis diagnostic development.

    PubMed

    Hanrahan, Colleen F; Shah, Maunank

    2014-08-01

    Tuberculosis remains a global health crisis in part due to underdiagnosis. Technological innovations are needed to improve diagnostic test accuracy and reduce the reliance on expensive laboratory infrastructure. However, there are significant economic challenges impeding the development and implementation of new diagnostics. The aim of this piece is to examine the current state of TB diagnostics, outline the unmet needs for new tests, and detail the economic challenges associated with development of new tests from the perspective of developers, policy makers and implementers. PMID:24766367

  19. Economic challenges associated with tuberculosis diagnostic development

    PubMed Central

    Hanrahan, Colleen F.; Shah, Maunank

    2015-01-01

    Tuberculosis remains a global health crisis in part due to underdiagnosis. Technological innovations are needed to improve diagnostic test accuracy and reduce the reliance on expensive laboratory infrastructure. However, there are significant economic challenges impeding the development and implementation of new diagnostics. The aim of this piece is to examine the current state of TB diagnostics, outline the unmet needs for new tests, and detail the economic challenges associated with development of new tests from the perspective of developers, policy makers and implementers. PMID:24766367

  20. Lipedema: diagnostic and management challenges

    PubMed Central

    Warren Peled, Anne; Kappos, Elisabeth A

    2016-01-01

    Lipedema is an uncommon disorder characterized by localized adiposity of the lower extremities, often occurring in females with a family history of the condition. The adiposity extends from hips to ankles and is typically unresponsive to weight loss. In addition to the aesthetic deformity, women also describe pain in the lower extremities, particularly with pressure, as well as easy bruising. Although the condition is well described, it is relatively rare and often misdiagnosed. The purpose of this review is to describe the initial evaluation and diagnosis of lipedema and discuss treatment options. PMID:27570465

  1. [Pulmonary Amyloidosis: A Diagnostic Challenge].

    PubMed

    Alves, Ana; Alfaro, Tiago M; Madama, Daniela; Freitas, Sara; Robalo-Cordeiro, Carlos; Gamboa, Fernanda

    2015-01-01

    Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. We report two cases. Case 1: 71 year-old female with bronchiectasis and Sjogrenâ syndrome, who complained of anorexia, weight loss and a productive cough. The diagnostic study included a surgical lung biopsy and histological examination demonstrated pulmonary amyloidosis. Case 2: 83 year-old male patient, ex-smoker, asymptomatic, whose routine chest x-ray showed a nodular opacity in the right lung field. A transthoracic biopsy revealed an amyloid lung tumor. These cases illustrate a rare disease which in Case 1 also coexisted with Sjögrenâs syndrome and bronchiectasis. The most important differential diagnosis is cancer and so a definitive diagnosis is essential, as amyloidosis is usually benign and indolent.

  2. Chronic Meningitis: Simplifying a Diagnostic Challenge.

    PubMed

    Baldwin, Kelly; Whiting, Chris

    2016-03-01

    Chronic meningitis can be a diagnostic dilemma for even the most experienced clinician. Many times, the differential diagnosis is broad and encompasses autoimmune, neoplastic, and infectious etiologies. This review will focus on a general approach to chronic meningitis to simplify the diagnostic challenges many clinicians face. The article will also review the most common etiologies of chronic meningitis in some detail including clinical presentation, diagnostic testing, treatment, and outcomes. By using a case-based approach, we will focus on the key elements of clinical presentation and laboratory analysis that will yield the most rapid and accurate diagnosis in these complicated cases.

  3. Diagnostic challenges in the older patient

    PubMed Central

    2012-01-01

    Older patients often present with a long, complex history and a clinical picture that frequently includes co-morbidities. It is essential that health professionals caring for older patients become familiar with common age-related changes, and the specific clinical factors that complicate the diagnostic process. A case-based approach is taken in this article to explore the diagnostic challenges in caring for older patients. Three areas of focus are used: a) polypharmacy, b) cognitive issues such as delirium, dementia and depression, and c) increased odds of pathologies and chronic illnesses. PMID:22950718

  4. Autistic spectrum disorder: diagnostic difficulties.

    PubMed

    Jones, G S

    2000-01-01

    Recognition of the autistic spectrum disorders is becoming more widespread amongst basic scientists, clinicians, and the general population. The term does not imply anything about pathology or aetiology, although it has proved to be a useful concept clinically. From Kanner's classical autism the concept has widened in scope to include milder and more subtle impairments. From a clinical perspective, there are many alternative diagnoses in an individual with autistic-like symptoms, and thorough investigation is necessary to exclude these. PMID:10970710

  5. Eosinophilic ascites: A diagnostic and therapeutic challenge

    PubMed Central

    Agrawal, Shefali; Vohra, Sandeep; Rawat, Sangeeta; Kashyap, Vikas

    2016-01-01

    Eosinophilic gastroenteritis (EGE) is a rare condition characterized by eosinophilic infiltration of the gastrointestinal tract. Depending on the dominant layer of infiltration it is classified into three types namely, mucosal, muscularis and subserosal. The most uncommon variant is the subserosal type characterized by primarily subserosal disease, eosinophilic ascites and peripheral hypereosinophilia. The clinical features are non-specific with history of atopic predisposition and allergy. Endoscopic biopsy is frequently non-diagnostic due to an uninvolved gastrointestinal mucosa rendering its diagnosis a challenge. The mainstay of diagnosis is peripheral hypereosinophilia and eosinophil-rich ascitic fluid on diagnostic paracentesis. Oral steroid therapy is usually the first line of treatment with dramatic response. Due to a propensity for relapse, steroid-sparing therapy should be considered for relapses of EGE. We report a case of subserosal EGE with diagnostic clinical features and treatment response and review the current strategy in the management of eosinophilic ascites. PMID:27721930

  6. Influence of cross-disorder analyses on the diagnostic criteria of mental illnesses

    PubMed Central

    WANG, Meiti; CUI, Donghong

    2016-01-01

    Cross-disorder studies are identifying shared genetic variations among common mental illnesses - including schizophrenia, bipolar disorder, and major depression - which are classified as independent disorders in the current diagnostic system. These cross-disorder studies are challenging the traditional system of diagnosing mental disorders based on clinical symptoms, but it remains to be seen whether or not they will lead to an improved method of classifying psychiatric disorders that can, in turn, lead to better outcomes for individuals suffering from these conditions.

  7. [Hereditary ichthyosis: A diagnostic and therapeutic challenge].

    PubMed

    Vega Almendra, Nadia; Aranibar Duran, Ligia

    2016-01-01

    Hereditary ichthyoses are a group of genetic disorders of cornification, which are characterised by hyperkeratosis and scaling. The new classification identifies 36 types of ichthyosis, which are subdivided according to their frequency, pattern of inheritance and extracutaneous involvement. The diagnosis is mainly based on clinical features, since genetic studies are not available in our setting. Treatment is symptomatic and management should be performed by a multidisciplinary team. In this article, the diagnostic and therapeutic aspects of different types of ichthyosis are reviewed, taking into account the nomenclature and modifications presented in the new classification.

  8. [Hereditary ichthyosis: A diagnostic and therapeutic challenge].

    PubMed

    Vega Almendra, Nadia; Aranibar Duran, Ligia

    2016-01-01

    Hereditary ichthyoses are a group of genetic disorders of cornification, which are characterised by hyperkeratosis and scaling. The new classification identifies 36 types of ichthyosis, which are subdivided according to their frequency, pattern of inheritance and extracutaneous involvement. The diagnosis is mainly based on clinical features, since genetic studies are not available in our setting. Treatment is symptomatic and management should be performed by a multidisciplinary team. In this article, the diagnostic and therapeutic aspects of different types of ichthyosis are reviewed, taking into account the nomenclature and modifications presented in the new classification. PMID:26471314

  9. Discriminating among diagnostic categories using the Dissociative Disorders Interview Schedule.

    PubMed

    Ross, Colin A; Ellason, Joan Weathersbee

    2005-04-01

    The Dissociative Disorders Interview Schedule was administered to 1,308 subjects in eight diagnostic categories, including 296 with dissociative identity disorder. The study tested three hypotheses: (1) the Mahalanobis distance between dissociative identity disorder and each of seven other diagnostic categories would be large, (2) the closest diagnostic category to dissociative identity disorder would be dissociative disorder not otherwise specified, and (3) nondissociative diagnostic categories would be closer to each other than any one to dissociative identity disorder. All three hypotheses were confirmed by these data. The findings support the conclusion that dissociative identity disorder is a discrete category or taxon.

  10. Revising the personality disorder diagnostic criteria for the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-V): consider the later life context.

    PubMed

    Balsis, Steve; Segal, Daniel L; Donahue, Cailin

    2009-10-01

    The categorical measurement approach implemented by the Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (DSM-IV) personality disorder (PD) diagnostic system is theoretically and pragmatically limited. As a result, many prominent psychologists now advocate for a shift away from this approach in favor of more conceptually sound dimensional measurement. This shift is expected to improve the psychometric properties of the personality disorder (PD) diagnostic system and make it more useful for clinicians and researchers. The current article suggests that despite the probable benefits of such a change, several limitations will remain if the new diagnostic system does not closely consider the context of later life. A failure to address the unique challenges associated with the assessment of personality in older adults likely will result in the continued limited validity, reliability, and utility of the Diagnostic and Statistical Manual of Mental Disorders (DSM) system for this growing population. This article discusses these limitations and their possible implications.

  11. Postpartum Tuberculosis: A Diagnostic and Therapeutic Challenge

    PubMed Central

    Gudeta, Alemeshet; Zerihun, Aklilu; Lewis, Odene; Ahmed, Sohail; Gajjala, Jhansi; Thomas, Alicia

    2016-01-01

    Tuberculosis (TB) infection in pregnant women and newborn babies is always challenging. Appropriate treatment is pivotal to curtail morbidity and mortality. TB diagnosis or exposure to active TB can be emotionally distressing to the mother. Circumstances can become more challenging for the physician if the mother's TB status is unclear. Effective management of TB during pregnancy and the postpartum period requires a multidisciplinary approach including pulmonologist, obstetrician, neonatologist, infectious disease specialist, and TB public health department. Current guidelines recommend primary Isoniazid prophylaxis in TB exposed pregnant women who are immune-suppressed and have chronic medical conditions or obstetric risk factors and close and sustained contact with a patient with infectious TB. Treatment during pregnancy is the same as for the general adult population. Infants born to mothers with active TB at delivery should undergo a complete diagnostic evaluation. Primary Isoniazid prophylaxis for at least twelve weeks is recommended for those with negative diagnostic tests and no evidence of disease. Repeated negative diagnostic tests are mandatory before interrupting prophylaxis. Separation of mother and infant is only necessary when the mother has received treatment for less than 2 weeks, is sputum smear-positive, or has drug-resistant TB. This case highlights important aspects for management of TB during the postpartum period which has a higher morbidity. We present a case of a young mother migrating from a developing nation to the USA, who was found to have a positive quantiFERON test associated with multiple cavitary lung lesions and gave birth to a healthy baby. PMID:27610260

  12. Postpartum Tuberculosis: A Diagnostic and Therapeutic Challenge.

    PubMed

    Kodadhala, Vijay; Gudeta, Alemeshet; Zerihun, Aklilu; Lewis, Odene; Ahmed, Sohail; Gajjala, Jhansi; Thomas, Alicia

    2016-01-01

    Tuberculosis (TB) infection in pregnant women and newborn babies is always challenging. Appropriate treatment is pivotal to curtail morbidity and mortality. TB diagnosis or exposure to active TB can be emotionally distressing to the mother. Circumstances can become more challenging for the physician if the mother's TB status is unclear. Effective management of TB during pregnancy and the postpartum period requires a multidisciplinary approach including pulmonologist, obstetrician, neonatologist, infectious disease specialist, and TB public health department. Current guidelines recommend primary Isoniazid prophylaxis in TB exposed pregnant women who are immune-suppressed and have chronic medical conditions or obstetric risk factors and close and sustained contact with a patient with infectious TB. Treatment during pregnancy is the same as for the general adult population. Infants born to mothers with active TB at delivery should undergo a complete diagnostic evaluation. Primary Isoniazid prophylaxis for at least twelve weeks is recommended for those with negative diagnostic tests and no evidence of disease. Repeated negative diagnostic tests are mandatory before interrupting prophylaxis. Separation of mother and infant is only necessary when the mother has received treatment for less than 2 weeks, is sputum smear-positive, or has drug-resistant TB. This case highlights important aspects for management of TB during the postpartum period which has a higher morbidity. We present a case of a young mother migrating from a developing nation to the USA, who was found to have a positive quantiFERON test associated with multiple cavitary lung lesions and gave birth to a healthy baby. PMID:27610260

  13. Postpartum Tuberculosis: A Diagnostic and Therapeutic Challenge

    PubMed Central

    Gudeta, Alemeshet; Zerihun, Aklilu; Lewis, Odene; Ahmed, Sohail; Gajjala, Jhansi; Thomas, Alicia

    2016-01-01

    Tuberculosis (TB) infection in pregnant women and newborn babies is always challenging. Appropriate treatment is pivotal to curtail morbidity and mortality. TB diagnosis or exposure to active TB can be emotionally distressing to the mother. Circumstances can become more challenging for the physician if the mother's TB status is unclear. Effective management of TB during pregnancy and the postpartum period requires a multidisciplinary approach including pulmonologist, obstetrician, neonatologist, infectious disease specialist, and TB public health department. Current guidelines recommend primary Isoniazid prophylaxis in TB exposed pregnant women who are immune-suppressed and have chronic medical conditions or obstetric risk factors and close and sustained contact with a patient with infectious TB. Treatment during pregnancy is the same as for the general adult population. Infants born to mothers with active TB at delivery should undergo a complete diagnostic evaluation. Primary Isoniazid prophylaxis for at least twelve weeks is recommended for those with negative diagnostic tests and no evidence of disease. Repeated negative diagnostic tests are mandatory before interrupting prophylaxis. Separation of mother and infant is only necessary when the mother has received treatment for less than 2 weeks, is sputum smear-positive, or has drug-resistant TB. This case highlights important aspects for management of TB during the postpartum period which has a higher morbidity. We present a case of a young mother migrating from a developing nation to the USA, who was found to have a positive quantiFERON test associated with multiple cavitary lung lesions and gave birth to a healthy baby.

  14. Psychiatric Diagnostic Uncertainty: Challenges to Patient-Centered Care.

    PubMed

    Aultman, Julie M

    2016-01-01

    In this case and commentary, a patient's request to be treated for depression without a stigmatizing diagnostic label of bipolar II disorder challenges a clinician's obligation to provide a clinically and ethically appropriate diagnosis and safe treatment consistent with the patient's family medical history. Sensitively recognizing and responding to patients' concerns and values, even when they might conflict with the delivery of reasonable psychiatric care, is essential when gauging the appropriateness of such therapeutic practices. Furthermore, developing honest and open communication; recognizing that patients, like some psychiatric diagnoses, do not fit into discrete boundaries or cannot be categorized by a single label; and placing the patient at the center of care can all serve to resolve value conflicts, protect patient privacy, and promote accurate diagnostic and treatment practices. PMID:27322991

  15. Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.

    PubMed

    Kingma, Sandra D K; Bodamer, Olaf A; Wijburg, Frits A

    2015-03-01

    The lysosomal storage disorders (LSDs) are a group of genetic disorders resulting from defective lysosomal metabolism and subsequent accumulation of substrates. Patients present with a large phenotypic spectrum of disease manifestations that are generally not specific for LSDs, leading to considerable diagnostic delay and missed cases. Introduction of new disease modifying therapies for LSDs has made early diagnosis a priority. Increased awareness, but particularly the introduction of screening programs allow for early diagnosis and timely initiation of treatment. This review will provide insight into the epidemiology and diagnostic process for LSDs. In addition, challenges for carrier screening, high-risk screening and newborn population screening for LSDs are discussed. PMID:25987169

  16. Seronegative Intestinal Villous Atrophy: A Diagnostic Challenge

    PubMed Central

    Teixeira, Cristina; Ribeiro, Suzane; Trabulo, Daniel; Cardoso, Cláudia; Mangualde, João; Freire, Ricardo; Alves, Ana Luísa; Gamito, Élia; Cremers, Isabelle; Oliveira, Ana Paula

    2016-01-01

    Celiac disease is the most important cause of intestinal villous atrophy. Seronegative intestinal villous atrophy, including those that are nonresponsive to a gluten-free diet, is a diagnostic challenge. In these cases, before establishing the diagnosis of seronegative celiac disease, alternative etiologies of atrophic enteropathy should be considered. Recently, a new clinical entity responsible for seronegative villous atrophy was described—olmesartan-induced sprue-like enteropathy. Herein, we report two uncommon cases of atrophic enteropathy in patients with arterial hypertension under olmesartan, who presented with severe chronic diarrhea and significant involuntary weight loss. Further investigation revealed intestinal villous atrophy and intraepithelial lymphocytosis. Celiac disease and other causes of villous atrophy were ruled out. Drug-induced enteropathy was suspected and clinical improvement and histologic recovery were verified after olmesartan withdrawal. These cases highlight the importance for clinicians to maintain a high index of suspicion for olmesartan as a precipitant of sprue-like enteropathy. PMID:27803820

  17. Tinea cutis glabrae: causes of diagnostic challenge

    PubMed Central

    Łuczkowska, Magdalena; Żaba, Ryszard; Adamski, Zygmunt

    2014-01-01

    Dermatophytoses belong to the most common disease entities encountered in everyday dermatological practice. Despite the fact that their clinical presentation, course and treatment response remain rather typical, they often present a considerable diagnostic and therapeutic challenge. We present a case of a 54-year-old male who presented to the outpatient clinic of the Department of Dermatology in December 2012 with the diagnosis of erythema gyratum repens for further diagnosis and treatment of skin lesions gradually intensifying in the previous 2 years. The skin changes presented as spreading annular erythematous lesions, with papules and plaques located peripherally, and accompanying pruritus. Due to the clinical presentation and anamnesis, working conditions (poultry farm), and lack of response to previous treatment, mycological culture was performed. Epithelial scrapings of the trunk and the groins proved to be positive. After 3 weeks, Trichophyton mentagrophytes var mentagrophytes was identified by epithelial cell culture. PMID:25610361

  18. Childhood Gender Identity...Disorder? Developmental, Cultural, and Diagnostic Concerns

    ERIC Educational Resources Information Center

    Dragowski, Eliza A.; Scharron-del Rio, Maria R.; Sandigorsky, Amy L.

    2011-01-01

    Childhood gender identity development is reviewed in the context of biological, environmental, cultural, and diagnostic factors. With the upcoming 5th revision of the "Diagnostic and Statistical Manual of Mental Disorders," the authors offer a critical consideration of childhood gender identity disorder, along with proposed diagnostic changes.…

  19. Pulmonary hypertension: diagnostic and therapeutic challenges

    PubMed Central

    Bazan, Isabel S; Fares, Wassim H

    2015-01-01

    Pulmonary hypertension (PH) is a hemodynamic and pathophysiologic state that can be found in multiple conditions with associated symptoms of dyspnea, decreased exercise tolerance, and progression to right heart failure. The World Health Organization has classified PH into five groups. The first group is pulmonary arterial hypertension (PAH), which can be idiopathic, heritable, due to drugs and toxins, or associated with conditions such as connective tissue diseases, congenital heart disease, portal hypertension, and others. The development of PAH is believed to result from smooth muscle cells and endothelial dysfunction that impairs production of vasodilators, including nitric oxide and prostacyclin. The importance of distinguishing this group from the other groups of PH is that there are PAH-specific drugs that target the molecular pathways that are pathogenic in the vascular derangements, leading to arterial hypertension, which should not be used in the other forms of PH. Other groups of PH include PH due to left heart disease, lung disease, chronic thromboembolic disease, as well as a miscellaneous category. Echocardiography is used to screen for PH and has varying sensitivity and specificity in detecting PH. Additionally, the right heart pressures estimated during echocardiogram often differ from those obtained during confirmatory testing with right heart catheterization. The most challenging PH diagnosis is in a case that does not fit one group of PH, but meets criteria that overlap between several groups. This also makes the treatment challenging because each group of PH is managed differently. This review provides an overview of the five groups of PH and discusses the diagnostic and therapeutic challenges of each. PMID:26316767

  20. Pulmonary hypertension: diagnostic and therapeutic challenges.

    PubMed

    Bazan, Isabel S; Fares, Wassim H

    2015-01-01

    Pulmonary hypertension (PH) is a hemodynamic and pathophysiologic state that can be found in multiple conditions with associated symptoms of dyspnea, decreased exercise tolerance, and progression to right heart failure. The World Health Organization has classified PH into five groups. The first group is pulmonary arterial hypertension (PAH), which can be idiopathic, heritable, due to drugs and toxins, or associated with conditions such as connective tissue diseases, congenital heart disease, portal hypertension, and others. The development of PAH is believed to result from smooth muscle cells and endothelial dysfunction that impairs production of vasodilators, including nitric oxide and prostacyclin. The importance of distinguishing this group from the other groups of PH is that there are PAH-specific drugs that target the molecular pathways that are pathogenic in the vascular derangements, leading to arterial hypertension, which should not be used in the other forms of PH. Other groups of PH include PH due to left heart disease, lung disease, chronic thromboembolic disease, as well as a miscellaneous category. Echocardiography is used to screen for PH and has varying sensitivity and specificity in detecting PH. Additionally, the right heart pressures estimated during echocardiogram often differ from those obtained during confirmatory testing with right heart catheterization. The most challenging PH diagnosis is in a case that does not fit one group of PH, but meets criteria that overlap between several groups. This also makes the treatment challenging because each group of PH is managed differently. This review provides an overview of the five groups of PH and discusses the diagnostic and therapeutic challenges of each. PMID:26316767

  1. Childhood sleep disorders: diagnostic and therapeutic approaches.

    PubMed

    Pearl, Phillip L

    2002-03-01

    Pediatric sleep physiology begins with development of the sleep/wake cycle, and the origins of active versus quiet sleep. The 24-hour circadian cycle becomes established at 3 to 6 months. Sleep disorders are rationally approached in pediatrics as age-related. Disorders during infancy commonly include mild, usually self-limited conditions such as sleep-onset association disorder, excessive nighttime feedings, and poor limit-setting. These require behavioral management to avoid long-term deleterious sleep habits. In contrast, other sleep disorders are more ominous, including sudden infant death syndrome (SIDS), central congenital hypoventilation syndrome, and sleep apnea. Childhood is generally the golden age of sleep, with brief latency, high efficiency, and easy awakening. Parasomnias, sometimes stage specific, are manifest here. Adolescents have sleep requirements similar to preteens, posing a challenge for them to adapt to school schedules and lifestyles. Narcolepsy, usually diagnosed in adolescence or early adulthood, is a lifelong sleep disorder that has led to the identification of the hypocretin/orexin neurotransmitter system. This will lead to enhanced understanding of what regulates stage rapid eye movement, and to novel therapeutic advances for hypersomnolence.

  2. Childhood sleep disorders: diagnostic and therapeutic approaches.

    PubMed

    Pearl, Phillip L

    2002-03-01

    Pediatric sleep physiology begins with development of the sleep/wake cycle, and the origins of active versus quiet sleep. The 24-hour circadian cycle becomes established at 3 to 6 months. Sleep disorders are rationally approached in pediatrics as age-related. Disorders during infancy commonly include mild, usually self-limited conditions such as sleep-onset association disorder, excessive nighttime feedings, and poor limit-setting. These require behavioral management to avoid long-term deleterious sleep habits. In contrast, other sleep disorders are more ominous, including sudden infant death syndrome (SIDS), central congenital hypoventilation syndrome, and sleep apnea. Childhood is generally the golden age of sleep, with brief latency, high efficiency, and easy awakening. Parasomnias, sometimes stage specific, are manifest here. Adolescents have sleep requirements similar to preteens, posing a challenge for them to adapt to school schedules and lifestyles. Narcolepsy, usually diagnosed in adolescence or early adulthood, is a lifelong sleep disorder that has led to the identification of the hypocretin/orexin neurotransmitter system. This will lead to enhanced understanding of what regulates stage rapid eye movement, and to novel therapeutic advances for hypersomnolence. PMID:11898482

  3. Atypical Apocrine Adenosis: Diagnostic Challenges and Pitfalls.

    PubMed

    Asirvatham, Jaya Ruth; Falcone, Maria Monica Garcia; Kleer, Celina G

    2016-10-01

    Apocrine change in the breast is an extremely common finding. In most cases, the benign or malignant nature of the lesion is easily recognized. Apocrine adenosis is used to describe sclerosing adenosis with apocrine change. The term apocrine atypia is used when there is significant cytologic atypia in apocrine cells, characterized by a 3-fold nuclear enlargement, prominent/multiple nucleoli, and hyperchromasia. Atypical apocrine adenosis is diagnosed when apocrine adenosis and apocrine atypia are superimposed. However, there are no definite criteria to distinguish atypical apocrine adenosis from apocrine ductal carcinoma in situ. Immunohistochemical markers can be confounding and may lead to erroneous diagnoses. Atypical apocrine features in sclerosing lesions may be misinterpreted as invasive carcinoma if the underlying lesion is not recognized. In the absence of definite features of malignancy, the diagnosis of apocrine ductal carcinoma in situ may be extremely difficult. In the present article, we review atypical apocrine adenosis focusing on diagnostic challenges and their implications on clinical management. PMID:27684975

  4. Influence of cross-disorder analyses on the diagnostic criteria of mental illnesses.

    PubMed

    Wang, Meiti; Cui, Donghong

    2016-02-25

    Cross-disorder studies are identifying shared genetic variations among common mental illnesses - including schizophrenia, bipolar disorder, and major depression - which are classified as independent disorders in the current diagnostic system. These cross-disorder studies are challenging the traditional system of diagnosing mental disorders based on clinical symptoms, but it remains to be seen whether or not they will lead to an improved method of classifying psychiatric disorders that can, in turn, lead to better outcomes for individuals suffering from these conditions. PMID:27688644

  5. The Perils of "Adjustment Disorder" as a Diagnostic Category

    ERIC Educational Resources Information Center

    Daniels, John

    2009-01-01

    "Adjustment disorder" occupies a peculiar position in the diagnostic system of the Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.; American Psychiatric Association, 2000) straddling the boundary between normal and abnormal psychology. A more human-centered approach in counseling offers a defense of "normal" adjustment as…

  6. Painful Shoulder in Swimmers: A Diagnostic Challenge.

    ERIC Educational Resources Information Center

    McMaster, William C.

    1986-01-01

    This article discusses the incidence, diagnosis, and treatment of painful shoulder in swimmers, including: regional problems that can cause shoulder pain; physical, clinical, and laboratory tests for diagnostic use; and approaches to management of the problem. (Author/CB)

  7. Pediatric Gastrointestinal Motility Disorders: Challenges and a Clinical Update

    PubMed Central

    Chumpitazi, Bruno

    2008-01-01

    Pediatric gastrointestinal motility disorders are common and can range from relatively benign conditions such as functional constipation to more serious disorders such as achalasia, Hirschsprung disease, and intestinal pseudoobstruction. Performing and interpreting motility evaluations in children presents unique challenges and is complicated by a dearth of control information, underlying gastrointestinal developmental maturation, technical challenges (eg, catheter size limitations), and patient cooperation. Primary diseases such as congenital pseudoobstruction or Hirschsprung disease occur more often in children, but as with adults, abnormal motility may be secondary to other processes. Diagnostic studies include radiographic studies, manometry, breath testing, myoelectrical testing, and histologic evaluation. Although recent advances in technology, genetics, and biology are making an important impact and have allowed for a better understanding of the pathophysiology and therapy of gastrointestinal motility disorders in children, further research and new therapeutic agents are needed. PMID:21904491

  8. Diagnostic Bias and Conduct Disorder: Improving Culturally Sensitive Diagnosis

    ERIC Educational Resources Information Center

    Mizock, Lauren; Harkins, Debra

    2011-01-01

    Disproportionately high rates of Conduct Disorder are diagnosed in African American and Latino youth of color. Diagnostic bias contributes to overdiagnosis of Conduct Disorder in these adolescents of color. Following a diagnosis of Conduct Disorder, adolescents of color face poorer outcomes than their White counterparts. These negative outcomes…

  9. Chronic Lyme; diagnostic and therapeutic challenges.

    PubMed

    Ljøstad, U; Mygland, Å

    2013-01-01

    In this review, we aim to discuss the definition, clinical and laboratory features, diagnostics, and management of chronic Lyme. Chronic Lyme is a rare condition caused by long-lasting and ongoing infection with the spirochete Borrelia burgdorferi (Bb). The most common manifestations are progressive encephalitis, myelitis, acrodermatitis chronica atrophicans with or without neuropathy, and arthritis. Chronic Lyme is not considered to present with isolated subjective symptoms. Direct detection of Bb has low yield in most manifestations of chronic Lyme, while almost 100% of the cases are seropositive, that is, have detectable Bb IgG antibodies in serum. Detection of Bb antibodies only with Western blot technique and not with ELISA and detection of Bb IgM antibodies without simultaneous detection of Bb IgG antibodies should be considered as seronegativity in patients with long-lasting symptoms. Patients with chronic Lyme in the nervous system (neuroborreliosis) have, with few exceptions, pleocytosis and production of Bb antibodies in their cerebrospinal fluid. Strict guidelines should be applied in diagnostics of chronic Lyme, and several differential diagnoses, including neurological disease, rheumatologic disease, post-Lyme disease syndrome, chronic fatigue syndrome, and psychiatric disease, should be considered in the diagnostic workup. Antibiotic treatment with administration route and dosages according to current guidelines are recommended. Combination antimicrobial therapy or antibiotic courses longer than 4 weeks are not recommended. Patients who attribute their symptoms to chronic Lyme on doubtful basis should be offered a thorough and systematic diagnostic approach, and an open and respectful dialogue. PMID:23190290

  10. Granulomatous mycosis fungoides--a diagnostic challenge.

    PubMed

    Pousa, Catharina Maria Freire de Lucena; Nery, Natália Solon; Mann, Danielle; Obadia, Daniel Lago; Alves, Maria de Fátima Gonçalves Scotelaro

    2015-01-01

    Granulomatous mycosis fungoides is a rare subtype of T-cell cutaneous lymphoma. Due to its clinical heterogenicity the diagnosis is delayed and based on histopathological and immuno-histochemical findings, sometimes requiring gene rearrangement studies for confirmation. We report the case of a patient who was submitted to several biopsies before diagnostic conclusion. PMID:26375225

  11. Diagnosing fetal alcohol spectrum disorder: History, challenges and future directions

    PubMed Central

    Benz, Jennifer; Rasmussen, Carmen; Andrew, Gail

    2009-01-01

    Fetal alcohol spectrum disorder (FASD) is one of the most common preventable causes of developmental disability, and is currently one of the most pressing public health concerns in Canada. FASD refers to the range of physical, mental, behavioural and learning disabilities that an individual may acquire as a result of maternal alcohol consumption. In the present paper, the history of the diagnostic approach to alcohol-related disorders over the past 35 years is reviewed. Research supporting the importance of early diagnosis for the long-term outcomes and management of individuals with FASD is presented, and challenges that have plagued efforts to efficiently diagnose individuals with FASD are discussed. Finally, the study reviews the future directions and implications regarding current diagnostic strategies. PMID:20357921

  12. Main challenges for ITER optical diagnostics

    SciTech Connect

    Vukolov, K. Yu.; Orlovskiy, I. I.; Alekseev, A. G.; Borisov, A. A.; Andreenko, E. N.; Kukushkin, A. B.; Lisitsa, V. S.; Neverov, V. S.

    2014-08-21

    The review is made of the problems of ITER optical diagnostics. Most of these problems will be related to the intensive neutron radiation from hot plasma. At a high level of radiation loads the most types of materials gradually change their properties. This effect is most critical for optical diagnostics because of degradation of optical glasses and mirrors. The degradation of mirrors, that collect the light from plasma, basically will be induced by impurity deposition and (or) sputtering by charge exchange atoms. Main attention is paid to the search of glasses for vacuum windows and achromatic lens which are stable under ITER irradiation conditions. The last results of irradiation tests in nuclear reactor of candidate silica glasses KU-1, KS-4V and TF 200 are presented. An additional problem is discussed that deals with the stray light produced by multiple reflections from the first wall of the intense light emitted in the divertor plasma.

  13. Main challenges for ITER optical diagnostics

    NASA Astrophysics Data System (ADS)

    Vukolov, K. Yu.; Orlovskiy, I. I.; Alekseev, A. G.; Borisov, A. A.; Andreenko, E. N.; Kukushkin, A. B.; Lisitsa, V. S.; Neverov, V. S.

    2014-08-01

    The review is made of the problems of ITER optical diagnostics. Most of these problems will be related to the intensive neutron radiation from hot plasma. At a high level of radiation loads the most types of materials gradually change their properties. This effect is most critical for optical diagnostics because of degradation of optical glasses and mirrors. The degradation of mirrors, that collect the light from plasma, basically will be induced by impurity deposition and (or) sputtering by charge exchange atoms. Main attention is paid to the search of glasses for vacuum windows and achromatic lens which are stable under ITER irradiation conditions. The last results of irradiation tests in nuclear reactor of candidate silica glasses KU-1, KS-4V and TF 200 are presented. An additional problem is discussed that deals with the stray light produced by multiple reflections from the first wall of the intense light emitted in the divertor plasma.

  14. Dissociative identity disorder: Medicolegal challenges.

    PubMed

    Farrell, Helen M

    2011-01-01

    Persons with dissociative identity disorder (DID) often present in the criminal justice system rather than the mental health system and perplex experts in both professions. DID is a controversial diagnosis with important medicolegal implications. Defendants have claimed that they committed serious crimes, including rape or murder, while they were in a dissociated state. Asserting that their alter personality committed the bad act, defendants have pleaded not guilty by reason of insanity (NGRI). In such instances, forensic experts are asked to assess the defendant for DID and provide testimony in court. Debate continues over whether DID truly exists, whether expert testimony should be allowed into evidence, and whether it should exculpate defendants for their criminal acts. This article reviews historical and theoretical perspectives on DID, presents cases that illustrate the legal implications and controversies of raising an insanity defense based on multiple personalities, and examines the role of forensic experts asked to comment on DID with the goal of assisting clinicians in the medicolegal assessment of DID in relation to crimes.

  15. The Diagnostic Challenge of Multiple Sclerosis

    PubMed Central

    Seland, T. Peter

    1984-01-01

    Multiple sclerosis is a common cause of many neurological complaints and disabilities among young, adult Canadians. In the absence of a reliable and specific laboratory test for the disease, the diagnosis is established primarily by clinical criteria, which are outlined in this article. Recent advances in immunology, neurophysiology and neuroimaging have provided techniques to improve diagnostic confidence, particularly in early or atypical cases. PMID:21278960

  16. Small bowel Ascaris infestation: a diagnostic challenge

    PubMed Central

    Khan, Muhammad Waqas; Ghauri, Sanniya Khan

    2016-01-01

    Ascariasis is a common infestation in developing countries where there is poor hygiene. A majority of the cases are asymptomatic, with a few cases presenting with mild abdominal pain and nutritional deficiencies in the long term. Here we present a case of a young boy who presented as a diagnostic dilemma, with signs of acute intestinal obstruction without any supporting radiological evidence. A barium study revealed the presence of low-burden Ascaris infestation that was managed medically. PMID:27175091

  17. Expanding the taxonomy of the diagnostic criteria for temporomandibular disorders.

    PubMed

    Peck, C C; Goulet, J-P; Lobbezoo, F; Schiffman, E L; Alstergren, P; Anderson, G C; de Leeuw, R; Jensen, R; Michelotti, A; Ohrbach, R; Petersson, A; List, T

    2014-01-01

    There is a need to expand the current temporomandibular disorders' (TMDs) classification to include less common but clinically important disorders. The immediate aim was to develop a consensus-based classification system and associated diagnostic criteria that have clinical and research utility for less common TMDs. The long-term aim was to establish a foundation, vis-à-vis this classification system, that will stimulate data collection, validity testing and further criteria refinement. A working group [members of the International RDC/TMD Consortium Network of the International Association for Dental Research (IADR), members of the Orofacial Pain Special Interest Group (SIG) of the International Association for the Study of Pain (IASP), and members from other professional societies] reviewed disorders for inclusion based on clinical significance, the availability of plausible diagnostic criteria and the ability to operationalise and study the criteria. The disorders were derived from the literature when possible and based on expert opinion as necessary. The expanded TMDs taxonomy was presented for feedback at international meetings. Of 56 disorders considered, 37 were included in the expanded taxonomy and were placed into the following four categories: temporomandibular joint disorders, masticatory muscle disorders, headache disorders and disorders affecting associated structures. Those excluded were extremely uncommon, lacking operationalised diagnostic criteria, not clearly related to TMDs, or not sufficiently distinct from disorders already included within the taxonomy. The expanded TMDs taxonomy offers an integrated approach to clinical diagnosis and provides a framework for further research to operationalise and test the proposed taxonomy and diagnostic criteria.

  18. Dysphagia in Crohn's disease: a diagnostic challenge.

    PubMed

    Knoblauch, C; Netzer, P; Scheurer, U; Seibold, F

    2002-09-01

    Dysphagia is a rare manifestation in a patient with Crohn's disease. We report on the case of a patient with long-standing Crohn's disease who developed progressive dysphagia over 3 years. Endoscopy showed minimal distal oesophagitis with non-specific histological findings. Further investigation with cinematography, barium swallow and manometry established an achalasia-like motility disorder. Biopsies obtained from the oesophagus were non-specific. Balloon dilatation was performed. Initial success was followed by recurrent dysphagia. At repeat endoscopy, an oesophageal fistula was detected. An attempt at conservative medical management failed and oesophagectomy was successfully performed. Pathology results of the resected specimen confirmed the suspected diagnosis of oesophageal Crohn's disease. Even if achalasia is suspected in a Crohn's patient, it should be taken into consideration that the motility disorder could be the result of a transmural inflammation with or without fibrosis caused by Crohn's disease. PMID:12405254

  19. Diagnostics Challenges for FACET-II

    SciTech Connect

    Clarke, Christine

    2015-10-07

    FACET-II is a prospective user facility at SLAC National Accelerator Laboratory. The facility will focus on high-energy, high-brightness beams and their interaction with plasma and lasers. The accelerator is designed for high-energy-density electron beams with peak currents of approximately 50 kA (potentially 100 kA) that are focused down to below 10x10 micron transverse spot size at an energy of 10 GeV. Subsequent phases of the facility will provide positron beams above 10 kA peak current to the experiment station. Experiments will require well characterised beams; however, the high peak current of the electron beam can lead to material failure in wirescanners, optical transition radiation screens and other instruments critical for measurement or delivery. The radiation environment and space constraints also put additional pressure on diagnostic design.

  20. Multiple Myeloma. Diagnostic challenges and standard therapy.

    PubMed

    Kyle, R A

    2001-04-01

    In the diagnosis of multiple myeloma (MM), the clinician must exclude other disorders in which a plasma cell reaction may occur such as rheumatoid arthritis and connective tissue disorders, or metastatic carcinoma where the patient may have osteolytic lesions associated with bone metastases. Patients with smoldering multiple myeloma (SMM) or monoclonal gammopathy of undetermined significance (MGUS) have none of the complicating features of MM and do not require treatment with potentially toxic agents. The plasma cell labeling index can help make a differential diagnosis of MM from SMM. Patients with a high labeling index have a high risk of complications and should be monitored carefully. However, the labeling index can be low in active MM. In addition, SMM or MGUS patients have few or no circulating plasma cells. High-dose chemotherapy and stem cell support prolong overall survival in contrast to conventional therapy. If stem cell transplantation is considered, it is important to harvest the cells before using alkylating agents to obtain a sufficient number of cells. Supportive treatment consists of the occasional use of erythropoietin to maintain adequate hemoglobin levels and adequate hydration to protect renal function. Vaccination against pneumococcal infections and the prophylactic use of antibiotic therapy during the first 2 months of treatment can be beneficial. Recognizing the symptoms of spinal cord compression and initiating dexamethasone therapy promptly to prevent paraplegia are critical. PMID:11309703

  1. [Current situation and challenges in companion diagnostics development].

    PubMed

    Nishida, Miwa

    2014-12-01

    The personalized health care, it is defined as a medical care which provide the optimal therapy for each individual in consideration of a patient's individual difference, such as a genetic background and a physiological state. A companion diagnosis to stratify a patient appropriately is essential for the spread of personalized health care, and it is important that a companion diagnostic reagent used for the companion diagnosis is properly developed and clinically applied. However, as for the development of companion diagnostics and pharmaceuticals that require it, there are still many challenges such as its business model of cooperation of diagnostics companies and pharmaceutical companies, also, the regulations related to companion diagnostics. Furthermore, even in clinical practice, there are many issues such as the way of reimbursement for companion diagnostics and also the handling of laboratory developed test (LDT) as companion diagnostics. These are issues that should continue to discuss with industry, government and academia. In this report, from the point of view of a diagnostics company, we discuss the various challenges in clinical applications from the development of companion diagnostics. PMID:25596043

  2. [Cushing syndrome. The diagnostic and therapeutic challenges].

    PubMed

    Mercado, M; Espinosa de los Monteros, A L

    2000-01-01

    Endogenous hypercortisolism is characteristically a condition that should be diagnosed and treated in tertiary care centers with the participation of several specialists. Cushing's syndrome represents the clinical expression of a prolonged exposure to glucocorticoids, independently of its origin. The term Cushing's disease refers to the hypercortisolism that results from the excessive secretion of corticotropin (ACTH) by a pituitary microadenoma. The mechanisms that give rise to the different forms of hypercortisolism are complex and its precise differential diagnosis is one of the major challenges in modern endocrinology. This review focuses on current aspects of the pathophysiology, differential diagnosis and treatment of Cushing's syndrome.

  3. Test and Product Review: Pediatric Attention Disorders Diagnostic Screener

    ERIC Educational Resources Information Center

    Huang, Leesa V.

    2009-01-01

    This article presents a comprehensive evaluation of the Pediatric Attention Disorders Diagnostic Screener (PADDS). PADDS was developed as a computer-based assessment system to screen for attention and executive function disorders in children aged 6 through 12 years. The evaluation of the PADDS indicated that it can be a useful and efficient…

  4. Eating Disorder Diagnostic Scale: Additional Evidence of Reliability and Validity

    ERIC Educational Resources Information Center

    Stice, Eric; Fisher, Melissa; Martinez, Erin

    2004-01-01

    The authors conducted 4 studies investigating the reliability and validity of the Eating Disorder Diagnostic Scale (HDDS; E. Stice, C. F. Telch, & S. L. Rizvi, 2000), a brief self-report measure for diagnosing anorexia nervosa, bulimia nervosa, and binge eating disorder. Study 1 found that the HDDS showed criterion validity with interview-based…

  5. Therapeutic and diagnostic challenges for frontotemporal dementia

    PubMed Central

    D’Alton, Simon; Lewis, Jada

    2014-01-01

    In the search for therapeutic modifiers, frontotemporal dementia (FTD) has traditionally been overshadowed by other conditions such as Alzheimer’s disease (AD). A clinically and pathologically diverse condition, FTD has been galvanized by a number of recent discoveries such as novel genetic variants in familial and sporadic forms of disease and the identification of TAR DNA binding protein of 43 kDa (TDP-43) as the defining constituent of inclusions in more than half of cases. In combination with an ever-expanding knowledge of the function and dysfunction of tau—a protein which is pathologically aggregated in the majority of the remaining cases—there exists a greater understanding of FTD than ever before. These advances may indicate potential approaches for the development of hypothetical therapeutics, but FTD remains highly complex and the roles of tau and TDP-43 in neurodegeneration are still wholly unclear. Here the challenges facing potential therapeutic strategies are discussed, which include sufficiently accurate disease diagnosis and sophisticated technology to deliver effective therapies. PMID:25191265

  6. Mitochondrial disorders: Challenges in diagnosis & treatment

    PubMed Central

    Khan, Nahid Akhtar; Govindaraj, Periyasamy; Meena, Angamuthu Kannan; Thangaraj, Kumarasamy

    2015-01-01

    Mitochondrial dysfunctions are known to be responsible for a number of heterogenous clinical presentations with multi-systemic involvement. Impaired oxidative phosphorylation leading to a decrease in cellular energy (ATP) production is the most important cause underlying these disorders. Despite significant progress made in the field of mitochondrial medicine during the last two decades, the molecular mechanisms underlying these disorders are not fully understood. Since the identification of first mitochondrial DNA (mtDNA) mutation in 1988, there has been an exponential rise in the identification of mtDNA and nuclear DNA mutations that are responsible for mitochondrial dysfunction and disease. Genetic complexity together with ever widening clinical spectrum associated with mitochondrial dysfunction poses a major challenge in diagnosis and treatment. Effective therapy has remained elusive till date and is mostly efficient in relieving symptoms. In this review, we discuss the important clinical and genetic features of mitochondrials disorders with special emphasis on diagnosis and treatment. PMID:25857492

  7. Course of Subthreshold Bipolar Disorder in Youth: Diagnostic Progression from Bipolar Disorder Not Otherwise Specified

    ERIC Educational Resources Information Center

    Axelson, David A.; Birmaher, Boris; Strober, Michael A.; Goldstein, Benjamin I.; Ha, Wonho; Gill, Mary Kay; Goldstein, Tina R.; Yen, Shirley; Hower, Heather; Hunt, Jeffrey I.; Liao, Fangzi; Iyengar, Satish; Dickstein, Daniel; Kim, Eunice; Ryan, Neal D.; Frankel, Erica; Keller, Martin B.

    2011-01-01

    Objective: To determine the rate of diagnostic conversion from an operationalized diagnosis of bipolar disorder not otherwise specified (BP-NOS) to bipolar I disorder (BP-I) or bipolar II disorder (BP-II) in youth over prospective follow-up and to identify factors associated with conversion. Method: Subjects were 140 children and adolescents…

  8. Myogenous temporomandibular disorders: diagnostic and management considerations.

    PubMed

    Fricton, James

    2007-01-01

    Myogenous temporomandibular disorders (or masticatory myalgia) are characterized by pain and dysfunction that arise from pathologic and functional processes in the masticatory muscles. There are several distinct muscle disorder subtypes in the masticatory system, including myofascial pain, myositis, muscle spasm, and muscle contracture. The major characteristics of masticatory myalgia include pain, muscle tenderness, limited range of motion, and other symptoms (eg, fatigability, stiffness, subjective weakness). Comorbid conditions and complicating factors also are common and are discussed. Management follows with stretching, posture, and relaxation exercises, physical therapy, reduction of contributing factors, and as necessary, muscle injections.

  9. An examination of the diagnostic validity of dissociative identity disorder.

    PubMed

    Gleaves, D H; May, M C; Cardeña, E

    2001-06-01

    We review the empirical evidence for the validity of the Dissociative Identity Disorder (DID) diagnosis, the vast majority of which has come from research conducted within the last 10 years. After reviewing three different guidelines to establish diagnostic validity, we conclude that considerable converging evidence supports the inclusion of DID in the current Diagnostic and Statistical Manual for Mental Disorders. For instance, DID appears to meet all of the guidelines for inclusion and none of the exclusion guidelines; proposed by Blashfield et al. [Comprehensive Psychiatry 31 (1990) 15-19], and it is one of the few disorders currently supported by taxometric research. However, we also discuss possible problems with the current diagnostic criteria and offer recommendations, based on recent research, for possible revisions to these criteria.

  10. Diagnostic Approach to Pediatric Spine Disorders.

    PubMed

    Rossi, Andrea; Martinetti, Carola; Morana, Giovanni; Severino, Mariasavina; Tortora, Domenico

    2016-08-01

    Understanding the developmental features of the pediatric spine and spinal cord, including embryologic steps and subsequent growth of the osteocartilaginous spine and contents is necessary for interpretation of the pathologic events that may affect the pediatric spine. MR imaging plays a crucial role in the diagnostic evaluation of patients suspected of harboring spinal abnormalities, whereas computed tomography and ultrasonography play a more limited, complementary role. This article discusses the embryologic and developmental anatomy features of the spine and spinal cord, together with some technical points and pitfalls, and the most common indications for pediatric spinal MR imaging.

  11. Historical Underpinnings of Bipolar Disorder Diagnostic Criteria

    PubMed Central

    Mason, Brittany L.; Brown, E. Sherwood; Croarkin, Paul E.

    2016-01-01

    Mood is the changing expression of emotion and can be described as a spectrum. The outermost ends of this spectrum highlight two states, the lowest low, melancholia, and the highest high, mania. These mood extremes have been documented repeatedly in human history, being first systematically described by Hippocrates. Nineteenth century contemporaries Falret and Baillarger described two forms of an extreme mood disorder, with the validity and accuracy of both debated. Regardless, the concept of a cycling mood disease was accepted before the end of the 19th century. Kraepelin then described “manic depressive insanity” and presented his description of a full spectrum of mood dysfunction which could be exhibited through single episodes of mania or depression or a complement of many episodes of each. It was this concept which was incorporated into the first DSM and carried out until DSM-III, in which the description of episodic mood dysfunction was used to build a diagnosis of bipolar disorder. Criticism of this approach is explored through discussion of the bipolar spectrum concept and some recent examinations of the clinical validity of these DSM diagnoses are presented. The concept of bipolar disorder in children is also explored. PMID:27429010

  12. Historical Underpinnings of Bipolar Disorder Diagnostic Criteria.

    PubMed

    Mason, Brittany L; Brown, E Sherwood; Croarkin, Paul E

    2016-01-01

    Mood is the changing expression of emotion and can be described as a spectrum. The outermost ends of this spectrum highlight two states, the lowest low, melancholia, and the highest high, mania. These mood extremes have been documented repeatedly in human history, being first systematically described by Hippocrates. Nineteenth century contemporaries Falret and Baillarger described two forms of an extreme mood disorder, with the validity and accuracy of both debated. Regardless, the concept of a cycling mood disease was accepted before the end of the 19th century. Kraepelin then described "manic depressive insanity" and presented his description of a full spectrum of mood dysfunction which could be exhibited through single episodes of mania or depression or a complement of many episodes of each. It was this concept which was incorporated into the first DSM and carried out until DSM-III, in which the description of episodic mood dysfunction was used to build a diagnosis of bipolar disorder. Criticism of this approach is explored through discussion of the bipolar spectrum concept and some recent examinations of the clinical validity of these DSM diagnoses are presented. The concept of bipolar disorder in children is also explored.

  13. Historical Underpinnings of Bipolar Disorder Diagnostic Criteria.

    PubMed

    Mason, Brittany L; Brown, E Sherwood; Croarkin, Paul E

    2016-01-01

    Mood is the changing expression of emotion and can be described as a spectrum. The outermost ends of this spectrum highlight two states, the lowest low, melancholia, and the highest high, mania. These mood extremes have been documented repeatedly in human history, being first systematically described by Hippocrates. Nineteenth century contemporaries Falret and Baillarger described two forms of an extreme mood disorder, with the validity and accuracy of both debated. Regardless, the concept of a cycling mood disease was accepted before the end of the 19th century. Kraepelin then described "manic depressive insanity" and presented his description of a full spectrum of mood dysfunction which could be exhibited through single episodes of mania or depression or a complement of many episodes of each. It was this concept which was incorporated into the first DSM and carried out until DSM-III, in which the description of episodic mood dysfunction was used to build a diagnosis of bipolar disorder. Criticism of this approach is explored through discussion of the bipolar spectrum concept and some recent examinations of the clinical validity of these DSM diagnoses are presented. The concept of bipolar disorder in children is also explored. PMID:27429010

  14. Diagnostic criteria for vascular cognitive disorders: a VASCOG statement

    PubMed Central

    Sachdev, Perminder; Kalaria, Raj; O’Brien, John; Skoog, Ingmar; Alladi, Suvarna; Black, Sandra E; Blacker, Deborah; Blazer, Dan; Chen, Christopher; Chui, Helena; Ganguli, Mary; Jellinger, Kurt; Jeste, Dilip V.; Pasquier, Florence; Paulsen, Jane; Prins, Niels; Rockwood, Kenneth; Roman, Gustavo; Scheltens, Philip

    2014-01-01

    Background Several sets of diagnostic criteria have been published for vascular dementia (VaD) since the 1960s. The continuing ambiguity in VaD definition warrants a critical re-examination. Methods Participants at a special symposium of the International Society for Vascular Behavioral and Cognitive Disorders (VASCOG) in 2009 critiqued the current criteria. They drafted a proposal for a new set of criteria, later reviewed through multiple drafts by the group, including additional experts and the members of the Neurocognitive Disorders Work Group of the DSM-5 Task Force. Results Cognitive disorders of vascular etiology are a heterogeneous group of disorders with diverse pathologies and clinical manifestations, discussed broadly under the rubric of vascular cognitive disorders (VCD). The continuum of vascular cognitive impairment is recognized by the categories of Mild Vascular Cognitive Disorder, and Vascular Dementia or Major Vascular Cognitive Disorder. Diagnostic thresholds are defined. Clinical and neuroimaging criteria are proposed for establishing vascular etiology. Subtypes of VCD are described, and the frequent co-occurrence of Alzheimer’s disease pathology emphasized. Conclusions The proposed criteria for VCD provide a coherent approach to the diagnosis of this diverse group of disorders, with a view to stimulating clinical and pathological validation studies. These criteria can be harmonized with the DSM-5 criteria such that an international consensus on the criteria for VCD may be achieved. PMID:24632990

  15. Somatoform disorders and recent diagnostic controversies.

    PubMed

    Kroenke, Kurt

    2007-12-01

    Classification is not a trivial matter. In Burmese Days, George Orwell writes, "It is devilish to suffer from a pain that is all but nameless. Blessed are they who are stricken only with classifiable diseases! Blessed are the poor, the sick, the crossed in love, for at least other people know what is the matter with them and will listen to their belly-achings with sympathy." Patients who have somatoform disorders are particularly susceptible to this Orwellian lamentation. They are afflicted by symptoms that defy simple explanations. As detailed in this article, there is a spectrum of medical and psychiatric factors that can cause or contribute to somatic symptom burden. Research is continuing to reveal the central mechanisms that may provide a common pathway for physical and psychologic symptoms. The dualism that places some somatic symptom disorders on Axis I and others on Axis III gradually may fade in the coming decades as what the unifying causes are among common symptoms and the multicausal nature of many symptoms are discovered. Meanwhile, the classification systems should continue to operate on pragmatic principles where mechanistic explanations are lacking. This will allow grouping patients into categories that inform research, scientific and patient communication, prognostication, and clinical management. Coupling a heuristic classification system with evidence-based measures for assessing severity and monitoring treatment outcomes are important steps in the optimal care of symptomatic patients.

  16. Diagnostic Agreement in Patients with Psychogenic Movement Disorders

    PubMed Central

    Morgante, Francesca; Edwards, Mark J.; Espay, Alberto J.; Fasano, Alfonso; Mir, Pablo; Martino, Davide

    2013-01-01

    Background The reliability and applicability of published diagnostic criteria for psychogenic movement disorders (PMDs) have never been examined. Methods Eight movement disorder and six general neurologists rated 14 patients diagnosed with PMD and 14 patients diagnosed with organic movement disorders. Raters provided a dichotomous judgment (i.e., psychogenic or organic) upon review of video-based movement phenomenology and a category of diagnostic certainty based on the Fahn-Williams and Shill-Gerber criteria after accessing standardized clinical information. We measured interobserver agreement on the diagnosis and clinical certainty judgment of PMD. Results In both groups of raters, agreements were “fair” on the video-based dichotomous judgment, but improved to “substantial” after access to standardized clinical information. “Slight” to “poor” agreement was reached for the “probable” and “possible” categories of diagnostic certainty corresponding to both diagnostic criteria. Conclusions Diagnosis according to clinical available criteria for PMD yields poor diagnostic agreement. PMID:22488862

  17. Conduct Disorder in Girls: Diagnostic and Intervention Issues

    ERIC Educational Resources Information Center

    Delligatti, Nina; Akin-Little, Angeleque; Little, Steven G.

    2003-01-01

    Current prevalence rates of Conduct Disorder (CD) in girls may be an underestimate due to inappropriate diagnostic criteria, biased perceptions by those responsible for reporting problematic behavior, and differential social constraints for each gender. Relatively few published studies of CD and related behaviors in girls exist. Available evidence…

  18. Diagnostic Stability in Very Young Children with Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Kleinman, Jamie M.; Ventola, Pamela E.; Pandey, Juhi; Verbalis, Alyssa D.; Barton, Marianne; Hodgson, Sarah; Green, James; Dumont-Mathieu, Thyde; Robins, Diana L.; Fein, Deborah

    2008-01-01

    Autism Spectrum Disorders (ASD) diagnosis in very young children may be delayed due to doubts about validity. In this study, 77 children received a diagnostic and developmental evaluation between 16 and 35 months and also between 42 and 82 months. Diagnoses based on clinical judgment, Childhood Autism Rating Scale, and the Autism Diagnostic…

  19. A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children

    PubMed Central

    Joost, K.; Rodenburg, R.J.; Piirsoo, A.; van den Heuvel, L.; Žordania, R.; Põder, H.; Talvik, I.; Kilk, K.; Soomets, U.; Õunap, K.

    2012-01-01

    Mitochondrial disorders are a heterogeneous group of disorders affecting energy production of the body. Different consensus diagnostic criteria for mitochondrial disorders in childhood are available – Wolfson, Nijmegen and modified Walker criteria. Due to the extreme complexity of mitochondrial disorders in children, we decided to develop a diagnostic algorithm, applicable in clinical practice in Estonia, in order to identify patients with mitochondrial disorders among pediatric neonatology and neurology patients. Additionally, it was aimed to evaluate the live-birth prevalence of mitochondrial disorders in childhood. During the study period (2003–2009), a total of 22 children were referred to a muscle biopsy in suspicion of mitochondrial disorder based on the preliminary biochemical, metabolic and instrumental investigations. Enzymatic and/or molecular analysis confirmed mitochondrial disease in 5 of them – an SCO2 gene (synthesis of cytochrome c oxidase, subunit 2) defect, 2 cases of pyruvate dehydrogenase complex deficiency and 2 cases of combined complex I and IV deficiency. The live-birth prevalence for mitochondrial defects observed in our cohort was 1/20,764 live births. Our epidemiological data correlate well with previously published epidemiology data on mitochondrial diseases in childhood from Sweden and Australia, but are lower than in Finland. PMID:23112753

  20. Familial mediterranean fever: a diagnostic challenge in pregnancy

    PubMed Central

    Duvan, Candan İltemir; Turhan, Nilgün Öztürk; Onaran, Yüksel; Gümüş, İlknur İnegöl; Gözdemir, Elif

    2009-01-01

    Familial Mediterranean Fever (FMF) is an autosomal recessive disease which is characterized by recurrent, self-limiting, short attacks of serositis while abdominal pain is the most common symptom. The underlying clinical and pathological picture is that of acute peritonitis. These abdominal signs are often so striking that they mimic an acute abdominal calamity suggesting several possible gastrointestinal, gynecologic or urologic diagnoses. Diagnosis of acute abdomen in pregnancy also remains one of the most challenging conditions as the physiological consequence of pregnancy and nonspecific laboratory parameters. A limited number of studies addressed FMF in pregnancy and none of them mentioned the diagnostic challenging of FMF during pregnancy because the patients had al been diagnosed previously. In this paper, we discussed a 20 year old, gravida 1, parity 0 patient whose twin pregnancy wash complicated by an acute abdominal condition after amniocentesis and the difficulties of making the diagnosis of FMF with the complications during this diagnostic period in pregnancy. PMID:24591879

  1. [Sleep disorders: principles, basic diagnostics and elementary measures and recommendations].

    PubMed

    Gerlach, Martin; Sanner, Bernd

    2015-08-01

    Sleep disorders are frequent. Economic costs and impairment of quality of life can be substantial. Usually, patients suffer from insomnia or hypersomnia. Several effective therapeutic options are available. Sleep disorders appear independently or accompany a multitude of organic and psychiatric diseases. Fatigue has to be distinguished from sleep disorders clearly. For classification, the ICSD-3, published by the American Academy of Sleep Medicine, is used. Patients should be explicitly asked for their sleep quality, for many do not report actively. Patient's history and clinical examination usually narrow the diagnosis to a large extent. Clinical diagnostics should be carried out according to the diagnostic algorithm by the German Sleep Society (DGSM). An optimal sleep hygiene and if necessary weight reduction are crucial and can prevent chronification and health consequences. In addition, assistive technology, drug therapy, behaviour therapy, and in few cases surgery are available. PMID:26306014

  2. [Sleep disorders: principles, basic diagnostics and elementary measures and recommendations].

    PubMed

    Gerlach, Martin; Sanner, Bernd

    2015-08-01

    Sleep disorders are frequent. Economic costs and impairment of quality of life can be substantial. Usually, patients suffer from insomnia or hypersomnia. Several effective therapeutic options are available. Sleep disorders appear independently or accompany a multitude of organic and psychiatric diseases. Fatigue has to be distinguished from sleep disorders clearly. For classification, the ICSD-3, published by the American Academy of Sleep Medicine, is used. Patients should be explicitly asked for their sleep quality, for many do not report actively. Patient's history and clinical examination usually narrow the diagnosis to a large extent. Clinical diagnostics should be carried out according to the diagnostic algorithm by the German Sleep Society (DGSM). An optimal sleep hygiene and if necessary weight reduction are crucial and can prevent chronification and health consequences. In addition, assistive technology, drug therapy, behaviour therapy, and in few cases surgery are available.

  3. Classroom Challenges: Working with Pupils with Communication Disorders

    ERIC Educational Resources Information Center

    Zebron, Shupikai; Mhute, Isaac; Musingafi, Maxwell Constantine Chando

    2015-01-01

    The challenge of actively involving students with communication disorders in the formal education systems prompted this desktop study on some of the challenges and problems associated with students with communication disorders in the classroom. This paper examines the relationship between communication disorders and learning from a very basic and…

  4. Posttraumatic stress disorder in early childhood: classification and diagnostic issues

    PubMed Central

    Simonelli, Alessandra

    2013-01-01

    The 0–3 diagnostic classification of infant mental health, on the basis of DSM-IV-R, describes posttraumatic stress disorder (PTSD) as a pattern of symptoms that may be shown by children who have experienced a single traumatic event, a series of connected traumatic events, or chronic, enduring stress situations. This definition, related to young children, needs the consideration of several factors to understand the child's symptoms, organize the diagnostic process, and realize clinical interventions. In this sense, the clinician must appreciate the classification criteria of PTSD in early childhood in the context of the child's age, temperament, and developmental level. This report presents a review of the research in the domain of the PTSD in early childhood with particular attention to the developmental considerations to define critical diagnostic criteria, specifically organized on the child characteristics, competences, and needs. Along this line, it will describe two proposed modifications of the diagnostic classification in childhood: the Post Traumatic Stress Disorder Alternative Algorithm (PTSD-AA) and the definition of developmental trauma disorder (DTD). PMID:24371512

  5. Characteristics of binge eating disorder in relation to diagnostic criteria.

    PubMed

    Wilfley, Denise E; Citrome, Leslie; Herman, Barry K

    2016-01-01

    The objective of this review was to examine the evidentiary basis for binge eating disorder (BED) with reference to the Diagnostic and Statistical Manual of Mental Disorders - Fifth Edition (DSM-5) diagnostic criteria for BED. A PubMed search restricted to titles and abstracts of English-language reviews, meta-analyses, clinical trials, randomized controlled trials, journal articles, and letters using human participants was conducted on August 7, 2015, using keywords that included "binge eating disorder," DSM-5, DSM-IV, guilt, shame, embarrassment, quantity, psychological, behavior, and "shape and weight concerns." Of the 257 retrieved publications, 60 publications were considered relevant to discussions related to DSM-5 diagnostic criteria and were included in the current review, and 20 additional references were also included on the basis of the authors' knowledge and/or on a review of the reference lists from relevant articles obtained through the literature search. Evidence supports the duration/frequency criterion for BED and the primary importance of loss of control and marked distress in identifying individuals with BED. Although overvaluation of shape/weight is not a diagnostic criterion, its relationship to the severity of BED psychopathology may identify a unique subset of individuals with BED. Additionally, individuals with BED often exhibit a clinical profile consisting of psychiatric (eg, mood, obsessive-compulsive, and impulsive disorders) and medical (eg, gastrointestinal symptoms, metabolic syndrome, and type 2 diabetes) comorbidities and behavioral profiles (eg, overconsumption of calories outside of a binge eating episode and emotional eating). Future revisions of the BED diagnostic criteria should consider the inclusion of BED subtypes, perhaps based on the overvaluation of shape/weight, and an evidence-based reassessment of severity criteria. PMID:27621631

  6. Characteristics of binge eating disorder in relation to diagnostic criteria

    PubMed Central

    Wilfley, Denise E; Citrome, Leslie; Herman, Barry K

    2016-01-01

    The objective of this review was to examine the evidentiary basis for binge eating disorder (BED) with reference to the Diagnostic and Statistical Manual of Mental Disorders – Fifth Edition (DSM-5) diagnostic criteria for BED. A PubMed search restricted to titles and abstracts of English-language reviews, meta-analyses, clinical trials, randomized controlled trials, journal articles, and letters using human participants was conducted on August 7, 2015, using keywords that included “binge eating disorder,” DSM-5, DSM-IV, guilt, shame, embarrassment, quantity, psychological, behavior, and “shape and weight concerns.” Of the 257 retrieved publications, 60 publications were considered relevant to discussions related to DSM-5 diagnostic criteria and were included in the current review, and 20 additional references were also included on the basis of the authors’ knowledge and/or on a review of the reference lists from relevant articles obtained through the literature search. Evidence supports the duration/frequency criterion for BED and the primary importance of loss of control and marked distress in identifying individuals with BED. Although overvaluation of shape/weight is not a diagnostic criterion, its relationship to the severity of BED psychopathology may identify a unique subset of individuals with BED. Additionally, individuals with BED often exhibit a clinical profile consisting of psychiatric (eg, mood, obsessive–compulsive, and impulsive disorders) and medical (eg, gastrointestinal symptoms, metabolic syndrome, and type 2 diabetes) comorbidities and behavioral profiles (eg, overconsumption of calories outside of a binge eating episode and emotional eating). Future revisions of the BED diagnostic criteria should consider the inclusion of BED subtypes, perhaps based on the overvaluation of shape/weight, and an evidence-based reassessment of severity criteria. PMID:27621631

  7. Diagnostic criteria as dysfunction indicators: bridging the chasm between the definition of mental disorder and diagnostic criteria for specific disorders.

    PubMed

    First, Michael B; Wakefield, Jerome C

    2013-12-01

    According to the introduction to the Diagnostic and Statistical Manual of Mental Disorders (DSM), Fifth Edition, each disorder must satisfy the definition of mental disorder, which requires the presence of both harm and dysfunction. Constructing criteria sets to require harm is relatively straightforward. However, establishing the presence of dysfunction is necessarily inferential because of the lack of knowledge of internal psychological and biological processes and their functions and dysfunctions. Given that virtually every psychiatric symptom characteristic of a DSM disorder can occur under some circumstances in a normally functioning person, diagnostic criteria based on symptoms must be constructed so that the symptoms indicate an internal dysfunction, and are thus inherently pathosuggestive. In this paper, we review strategies used in DSM criteria sets for increasing the pathosuggestiveness of symptoms to ensure that the disorder meets the requirements of the definition of mental disorder. Strategies include the following: requiring a minimum duration and persistence; requiring that the frequency or intensity of a symptom exceed that seen in normal people; requiring disproportionality of symptoms, given the context; requiring pervasiveness of symptom expression across contexts; adding specific exclusions for contextual scenarios in which symptoms are best understood as normal reactions; combining symptoms to increase cumulative pathosuggestiveness; and requiring enough symptoms from an overall syndrome to meet a minimum threshold of pathosuggestiveness. We propose that future revisions of the DSM consider systematic implementation of these strategies in the construction and revision of criteria sets, with the goal of maximizing the pathosuggestiveness of diagnostic criteria to reduce the potential for diagnostic false positives.

  8. Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

    PubMed Central

    Chang, Susie; Vaccarella, Leah; Olatunji, Sunday; Cebulla, Colleen; Christoforidis, John

    2011-01-01

    Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders. Diagnosis can be challenging as more than 40 genes are known to cause non-syndromic RP and phenotypic expression can differ significantly resulting in variations in disease severity, age of onset, rate of progression, and clinical findings. We describe the clinical manifestations of RP, the more commonly known causative gene mutations, and the genotypic-phenotypic correlation of RP. PMID:22131872

  9. Diagnostic system with database application for laryngological and dermatological disorders

    NASA Astrophysics Data System (ADS)

    Paczesny, Daniel; Kuls, Michal; Tarapata, Grzegorz

    2006-03-01

    This article describes the design and construction of a diagnostic system for laryngological and dermatological disorders. Searching for both solutions based on a dew point hygrometer with a semiconductor structure introduced. Some constructional solutions like the framework of a computer application for both systems are similar but the measurement approach is different. The major emphasis is put on the database applications dedicated for medical doctors. The database application which is a common part in both systems and also measurement devices together, create a diagnostic system which has been designed and constructed. Both systems have been tested in a hospital with the assistance of doctors specialized in this subjects. In the near future, the system will enable the analysis between achieved data and different disorders.

  10. TMJ Disorders: Future Innovations in Diagnostics and Therapeutics

    PubMed Central

    Wadhwa, Sunil; Kapila, Sunil

    2008-01-01

    Because their etiologies and pathogenesis are poorly understood, temporomandibular joint (TMJ) diseases are difficult to diagnose and manage. All current approaches to treatments of TMJ diseases are largely palliative. Definitive and rational diagnoses or treatments can only be achieved through a comprehensive understanding of the etiologies, predisposing factors, and pathogenesis of TMJ diseases. While much work remains to be done in this field, novel findings in biomedicine and developments in imaging and computer technologies are beginning to provide us with a vision of future innovations in the diagnostics and therapeutics of TMJ disorders. These advances include the identification and use of local or systemic biomarkers to diagnose disease or monitor improvements in therapy; the use of imaging technologies for earlier and more sensitive diagnostics; and the use of biomedicine, biomimetics, and imaging to design and manufacture bioengineered joints. Such advances are likely to help to customize and enhance the quality of care we provide to patients with TMJ disorders. PMID:18676802

  11. The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder.

    PubMed

    Ziats, Mark N; Rennert, Owen M

    2016-01-01

    The autism spectrum disorders (ASD) are a heterogeneous set of neurodevelopmental syndromes defined by impairments in verbal and non-verbal communication, restricted social interaction, and the presence of stereotyped patterns of behavior. The prevalence of ASD is rising, and the diagnostic criteria and clinical perspectives on the disorder continue to evolve in parallel. Although the majority of individuals with ASD will not have an identifiable genetic cause, almost 25% of cases have identifiable causative DNA variants. The rapidly improving ability to identify genetic mutations because of advances in next generation sequencing, coupled with previous epidemiological studies demonstrating high heritability of ASD, have led to many recent attempts to identify causative genetic mutations underlying the ASD phenotype. However, although hundreds of mutations have been identified to date, they are either rare variants affecting only a handful of ASD patients, or are common variants in the general population conferring only a small risk for ASD. Furthermore, the genes implicated thus far are heterogeneous in their structure and function, hampering attempts to understand shared molecular mechanisms among all ASD patients; an understanding that is crucial for the development of targeted diagnostics and therapies. However, new work is beginning to suggest that the heterogeneous set of genes implicated in ASD may ultimately converge on a few common pathways. In this review, we discuss the parallel evolution of our diagnostic and genetic understanding of autism spectrum disorders, and highlight recent attempts to infer common biology underlying this complicated syndrome. PMID:27200076

  12. The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder

    PubMed Central

    Ziats, Mark N.; Rennert, Owen M.

    2016-01-01

    The autism spectrum disorders (ASD) are a heterogeneous set of neurodevelopmental syndromes defined by impairments in verbal and non-verbal communication, restricted social interaction, and the presence of stereotyped patterns of behavior. The prevalence of ASD is rising, and the diagnostic criteria and clinical perspectives on the disorder continue to evolve in parallel. Although the majority of individuals with ASD will not have an identifiable genetic cause, almost 25% of cases have identifiable causative DNA variants. The rapidly improving ability to identify genetic mutations because of advances in next generation sequencing, coupled with previous epidemiological studies demonstrating high heritability of ASD, have led to many recent attempts to identify causative genetic mutations underlying the ASD phenotype. However, although hundreds of mutations have been identified to date, they are either rare variants affecting only a handful of ASD patients, or are common variants in the general population conferring only a small risk for ASD. Furthermore, the genes implicated thus far are heterogeneous in their structure and function, hampering attempts to understand shared molecular mechanisms among all ASD patients; an understanding that is crucial for the development of targeted diagnostics and therapies. However, new work is beginning to suggest that the heterogeneous set of genes implicated in ASD may ultimately converge on a few common pathways. In this review, we discuss the parallel evolution of our diagnostic and genetic understanding of autism spectrum disorders, and highlight recent attempts to infer common biology underlying this complicated syndrome. PMID:27200076

  13. The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder.

    PubMed

    Ziats, Mark N; Rennert, Owen M

    2016-01-01

    The autism spectrum disorders (ASD) are a heterogeneous set of neurodevelopmental syndromes defined by impairments in verbal and non-verbal communication, restricted social interaction, and the presence of stereotyped patterns of behavior. The prevalence of ASD is rising, and the diagnostic criteria and clinical perspectives on the disorder continue to evolve in parallel. Although the majority of individuals with ASD will not have an identifiable genetic cause, almost 25% of cases have identifiable causative DNA variants. The rapidly improving ability to identify genetic mutations because of advances in next generation sequencing, coupled with previous epidemiological studies demonstrating high heritability of ASD, have led to many recent attempts to identify causative genetic mutations underlying the ASD phenotype. However, although hundreds of mutations have been identified to date, they are either rare variants affecting only a handful of ASD patients, or are common variants in the general population conferring only a small risk for ASD. Furthermore, the genes implicated thus far are heterogeneous in their structure and function, hampering attempts to understand shared molecular mechanisms among all ASD patients; an understanding that is crucial for the development of targeted diagnostics and therapies. However, new work is beginning to suggest that the heterogeneous set of genes implicated in ASD may ultimately converge on a few common pathways. In this review, we discuss the parallel evolution of our diagnostic and genetic understanding of autism spectrum disorders, and highlight recent attempts to infer common biology underlying this complicated syndrome.

  14. Fungus or parasite or both: a diagnostic challenge.

    PubMed

    Panchabhai, Tanmay S; Bandyopadhyay, Debabrata; Piliang, Melissa; Duggal, Abhijit

    2015-01-01

    Protothecosis is a rare opportunistic infection caused by achlorophilic algae Prototheca wickerhamii, mainly in immunocompromised hosts. Due to their morphologic appearance in routine culture media, they can often mimic yeast-like opportunistic pathogens such as Pneumocystis jirovecii. This can delay the identification of other culprit organisms. We present a fatal case of protothecosis in a 74-year-old immunosuppressed male with concomitant Pneumocystis jirovecii pneumonia (PJP). The presence of a coinfection along with resemblance in routine culture media and microbiological and histopathological staining can prove to be a diagnostic challenge and delay appropriate care of an immunosuppressed patient. PMID:25722621

  15. Fungus or Parasite or Both: A Diagnostic Challenge

    PubMed Central

    Panchabhai, Tanmay S.; Bandyopadhyay, Debabrata; Piliang, Melissa; Duggal, Abhijit

    2015-01-01

    Protothecosis is a rare opportunistic infection caused by achlorophilic algae Prototheca wickerhamii, mainly in immunocompromised hosts. Due to their morphologic appearance in routine culture media, they can often mimic yeast-like opportunistic pathogens such as Pneumocystis jirovecii. This can delay the identification of other culprit organisms. We present a fatal case of protothecosis in a 74-year-old immunosuppressed male with concomitant Pneumocystis jirovecii pneumonia (PJP). The presence of a coinfection along with resemblance in routine culture media and microbiological and histopathological staining can prove to be a diagnostic challenge and delay appropriate care of an immunosuppressed patient. PMID:25722621

  16. Metastatic Chordoma: A Diagnostic Challenge on Fine Needle Aspiration.

    PubMed

    Tranesh, Ghassan; Nassar, Aziza

    2016-01-01

    Chordomas are primary low grade malignant tumors of bone that usually arise within both ends of axial skeleton. The Notochord is a midline, ectoderm-derived structure that defines the phylum of chordates. Chordomas may pose difficult diagnostic challenges when encountered in secondary locations, such as lungs or other parenchymatous organs. We report the cytologic findings of a metastatic chordoma sampled through CT-scan guided fine needle aspiration (FNA) of lower lobe lung nodule in a 54-year-old man diagnosed with recurrent chordoma involving the lumber spine and paraspinal region.

  17. Metastatic Chordoma: A Diagnostic Challenge on Fine Needle Aspiration

    PubMed Central

    Tranesh, Ghassan; Nassar, Aziza

    2016-01-01

    Chordomas are primary low grade malignant tumors of bone that usually arise within both ends of axial skeleton. The Notochord is a midline, ectoderm-derived structure that defines the phylum of chordates. Chordomas may pose difficult diagnostic challenges when encountered in secondary locations, such as lungs or other parenchymatous organs. We report the cytologic findings of a metastatic chordoma sampled through CT-scan guided fine needle aspiration (FNA) of lower lobe lung nodule in a 54-year-old man diagnosed with recurrent chordoma involving the lumber spine and paraspinal region. PMID:26881166

  18. Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders.

    PubMed

    2016-05-01

    Prenatal genetic diagnostic testing is intended to determine, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. In contrast, prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. Originally, prenatal genetic testing focused primarily on Down syndrome (trisomy 21), but now it is able to detect a broad range of genetic disorders. Although it is necessary to perform amniocentesis or chorionic villus sampling (CVS) to definitively diagnose most genetic disorders, in some circumstances, fetal imaging with ultrasonography, echocardiography, or magnetic resonance imaging may be diagnostic of a particular structural fetal abnormality that is suggestive of an underlying genetic condition.The objective of prenatal genetic testing is to detect health problems that could affect the woman, fetus, or newborn and provide the patient and her obstetrician-gynecologist or other obstetric care provider with enough information to allow a fully informed decision about pregnancy management. Prenatal genetic testing cannot identify all abnormalities or problems in a fetus, and any testing should be focused on the individual patient's risks, reproductive goals, and preferences. It is important that patients understand the benefits and limitations of all prenatal screening and diagnostic testing, including the conditions for which tests are available and the conditions that will not be detected by testing. It also is important that patients realize that there is a broad range of clinical presentations, or phenotypes, for many genetic disorders and that results of genetic testing cannot predict all outcomes. Prenatal genetic testing has many benefits, including reassuring patients when results are normal, identifying disorders for which prenatal treatment may provide benefit, optimizing neonatal outcomes by ensuring the appropriate location for

  19. Somatic symptom disorder, a new DSM-5 diagnosis of an old clinical challenge.

    PubMed

    Rosic, Tea; Kalra, Sameer; Samaan, Zainab

    2016-01-01

    Somatic symptom disorder (SSD) is characterised by a dysfunctional preoccupation with one or more physical symptoms. Patients with SSD often pursue excessive and unnecessary investigations, hospitalisations and treatments that significantly affect quality of life and drain healthcare resources. Thus, appropriate diagnosis and careful management are required to mitigate the patient's distress and to reduce the burden to the healthcare system. SSD is a new disorder defined in the Diagnostic and Statistical Manual Fifth Edition (DSM-5), replacing somatoform and related disorders in the DSM-4-Text Revision with diagnostic criteria that are inclusive of a broad array of presentations. This report presents a detailed clinical case of an elderly man with a history of frequent hospital visits presenting with SSD. We discuss diagnostic challenges and evidence-based management in acute inpatient as well as in outpatient settings. We also review data on healthcare utilisation associated with SSD. PMID:26759438

  20. NAIMA as a solution for future GMO diagnostics challenges.

    PubMed

    Dobnik, David; Morisset, Dany; Gruden, Kristina

    2010-03-01

    In the field of genetically modified organism (GMO) diagnostics, real-time PCR has been the method of choice for target detection and quantification in most laboratories. Despite its numerous advantages, however, the lack of a true multiplexing option may render real-time PCR less practical in the face of future GMO detection challenges such as the multiplicity and increasing complexity of new transgenic events, as well as the repeated occurrence of unauthorized GMOs on the market. In this context, we recently reported the development of a novel multiplex quantitative DNA-based target amplification method, named NASBA implemented microarray analysis (NAIMA), which is suitable for sensitive, specific and quantitative detection of GMOs on a microarray. In this article, the performance of NAIMA is compared with that of real-time PCR, the focus being their performances in view of the upcoming challenge to detect/quantify an increasing number of possible GMOs at a sustainable cost and affordable staff effort. Finally, we present our conclusions concerning the applicability of NAIMA for future use in GMO diagnostics. PMID:19821160

  1. NAIMA as a solution for future GMO diagnostics challenges.

    PubMed

    Dobnik, David; Morisset, Dany; Gruden, Kristina

    2010-03-01

    In the field of genetically modified organism (GMO) diagnostics, real-time PCR has been the method of choice for target detection and quantification in most laboratories. Despite its numerous advantages, however, the lack of a true multiplexing option may render real-time PCR less practical in the face of future GMO detection challenges such as the multiplicity and increasing complexity of new transgenic events, as well as the repeated occurrence of unauthorized GMOs on the market. In this context, we recently reported the development of a novel multiplex quantitative DNA-based target amplification method, named NASBA implemented microarray analysis (NAIMA), which is suitable for sensitive, specific and quantitative detection of GMOs on a microarray. In this article, the performance of NAIMA is compared with that of real-time PCR, the focus being their performances in view of the upcoming challenge to detect/quantify an increasing number of possible GMOs at a sustainable cost and affordable staff effort. Finally, we present our conclusions concerning the applicability of NAIMA for future use in GMO diagnostics.

  2. Premenstrual dysphoric disorder in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition: contributions from Asia.

    PubMed

    Mehta, N; Mehta, S

    2014-12-01

    Premenstrual dysphoric disorder has been included as a separate diagnostic entity in the chapter of 'Depressive Disorders' of the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5). The antecedent, concurrent, and predictive diagnostic validators of premenstrual dysphoric disorder have been reviewed by a sub-workgroup of the DSM-5 Mood Disorders Work Group, which includes a panel of experts on women's mental health. Contributions from the Asian continent have been mainly in the form of prevalence studies. Genetic and neurobiological domains of premenstrual dysphoric disorder largely remain untouched in Asia and offer a potential area for investigation.

  3. Research Diagnostic Criteria for Temporomandibular Disorders: Future Directions

    PubMed Central

    Anderson, Gary C.; Gonzalez, Yoly M.; Ohrbach, Richard; Truelove, Edmond L.; Sommers, Earl; Look, John O.; Schiffman, Eric L.

    2011-01-01

    The Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) Validation Project provided the first comprehensive assessment of reliability and validity of the original Axis I and II. In addition, Axis I of the RDC/TMD was revised with estimates of reliability and validity. These findings are reported in previous papers. Further revisions for Axis I and II are presented for consideration by the TMD research and clinical communities. Potential Axis I revisions include addressing concerns with orofacial pain differential diagnosis and changes in nomenclature in an attempt to provide improved consistency with other musculoskeletal diagnostic systems. In addition, expansion of the RDC/TMD to include the less common TMD conditions and disorders would make it more comprehensive and clinically useful. The original standards for diagnostic sensitivity (≤0.70) and specificity (≤0.95) should be reconsidered to reflect changes in the field since the RDC/TMD was published in 1992. Pertaining to Axis II, current recommendations for all chronic pain conditions include standardized instruments and expansion of the domains assessed. In addition there is need for improved clinical efficiency of Axis II instruments and exploring methods to better integrate Axis I and II in clinical settings. To that end, this paper recommends an international symposium to provide future direction. PMID:20213033

  4. Comparison of Diagnostic Criteria for Common Variable Immunodeficiency Disorder

    PubMed Central

    Ameratunga, Rohan; Brewerton, Maia; Slade, Charlotte; Jordan, Anthony; Gillis, David; Steele, Richard; Koopmans, Wikke; Woon, See-Tarn

    2014-01-01

    Common variable immunodeficiency disorders (CVIDs) are the most frequent symptomatic primary immune deficiency condition in adults. The genetic basis for the condition is not known and no single clinical feature or laboratory test can establish the diagnosis; it has been a diagnosis of exclusion. In areas of uncertainty, diagnostic criteria can provide valuable clinical information. Here, we compare the revised European society of immune deficiencies (ESID) registry (2014) criteria with the diagnostic criteria of Ameratunga et al. (2013) and the original ESID/pan American group for immune deficiency (ESID/PAGID 1999) criteria. The ESID/PAGID (1999) criteria either require absent isohemagglutinins or impaired vaccine responses to establish the diagnosis in patients with primary hypogammaglobulinemia. Although commonly encountered, infective and autoimmune sequelae of CVID were not part of the original ESID/PAGID (1999) criteria. Also excluded were a series of characteristic laboratory and histological abnormalities, which are useful when making the diagnosis. The diagnostic criteria of Ameratunga et al. (2013) for CVID are based on these markers. The revised ESID registry (2014) criteria for CVID require the presence of symptoms as well as laboratory abnormalities to establish the diagnosis. Once validated, criteria for CVID will improve diagnostic precision and will result in more equitable and judicious use of intravenous or subcutaneous immunoglobulin therapy. PMID:25309532

  5. Diagnostic and clinical considerations in prolonged grief disorder

    PubMed Central

    Maercker, Andreas; Lalor, John

    2012-01-01

    This review focuses on the similarities and differences between prolonged grief disorder (PGD) and post-traumatic stress disorder (PTSD). It highlights how a PTSD-related understanding aids the investigation and clinical management of PGD. Grief has long been understood as a natural response to bereavement, as serious psychological and physiological stress has been regarded as a potential outcome of extreme or traumatic stress. PTSD was first included in DSM-III in 1980. In the mid-1980s, the first systematic investigation began into whether there is an extreme or pathological form of mourning. Meanwhile, there is much research literature on complicated, traumatic, or prolonged grief This literature is reviewed in this article, with the following questions: Is it possible to distinguish normal from non-normal grief? Which clinical presentation does PGD have—and how does this compare with PTSD? Finally, diagnostic, preventive, and therapeutic approaches and existing tools are presented. PMID:22754289

  6. A diagnostic and statistical manual of mental disorders history of premenstrual dysphoric disorder.

    PubMed

    Zachar, Peter; Kendler, Kenneth S

    2014-04-01

    The proposals to include a menstruation-related mood disorder in the Diagnostic and Statistical Manual of Mental Disorders, Revised Third Edition (DSM-III-R), and DSM-IV led to intense public and behind-the-scenes controversy. Although the controversies surrounding the DSM-5 revision were greater in number than the controversies of the earlier revisions, the DSM-5 proposal to include a menstruation-related mood disorder was not among them. Premenstrual dysphoric disorder was made an official disorder in the DSM-5 with no significant protest. To understand the factors that led to this change, we interviewed those psychiatrists and psychologists who were most involved in the DSM-IV revision. On the basis of these interviews, we offer a list of empirical and nonempirical considerations that led to the DSM-IV compromise and explore how key alterations in these considerations led to a different outcome for the DSM-5.

  7. Diagnostic Options and Challenges for Dengue and Chikungunya Viruses.

    PubMed

    Mardekian, Stacey K; Roberts, Amity L

    2015-01-01

    Dengue virus (DENV) and Chikungunya virus (CHIKV) are arboviruses that share the same Aedes mosquito vectors and thus overlap in their endemic areas. These two viruses also cause similar clinical presentations, especially in the initial stages of infection, with neither virus possessing any specific distinguishing clinical features. Because the outcomes and management strategies for these two viruses are vastly different, early and accurate diagnosis is imperative. Diagnosis is also important for surveillance, outbreak control, and research related to vaccine and drug development. Available diagnostic tests are aimed at detection of the virus, its antigenic components, or the host immune antibody response. In this review, we describe the recent progress and continued challenges related to the diagnosis of DENV and CHIKV infections.

  8. Diagnostic Options and Challenges for Dengue and Chikungunya Viruses

    PubMed Central

    Mardekian, Stacey K.; Roberts, Amity L.

    2015-01-01

    Dengue virus (DENV) and Chikungunya virus (CHIKV) are arboviruses that share the same Aedes mosquito vectors and thus overlap in their endemic areas. These two viruses also cause similar clinical presentations, especially in the initial stages of infection, with neither virus possessing any specific distinguishing clinical features. Because the outcomes and management strategies for these two viruses are vastly different, early and accurate diagnosis is imperative. Diagnosis is also important for surveillance, outbreak control, and research related to vaccine and drug development. Available diagnostic tests are aimed at detection of the virus, its antigenic components, or the host immune antibody response. In this review, we describe the recent progress and continued challenges related to the diagnosis of DENV and CHIKV infections. PMID:26509163

  9. Tuberculosis in otorhinolaryngology: clinical presentation and diagnostic challenges.

    PubMed

    Michael, Rajiv C; Michael, Joy S

    2011-01-01

    Tuberculosis affects all tissues of the body, although some more commonly than the others. Pulmonary tuberculosis is the most common type of tuberculosis accounting for approximately 80% of the tuberculosis cases. Tuberculosis of the otorhinolaryngeal region is one of the rarer forms of extrapulmonary tuberculosis but still poses a significant clinical and diagnostic challenge. Over three years, only five out of 121 patients suspected to have tuberculosis of the otorhinolaryngeal region (cervical adenitis excluded) had Mycobacterium tuberculosis culture-proven disease. Additional 7 had histology-proven tuberculosis. Only one patient had concomitant sputum-positive pulmonary tuberculosis. We look at the various clinical and laboratory aspects of tuberculosis of the otorhinolaryngeal region that would help to diagnose this uncommon but important form of extrapulmonary tuberculosis.

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

    PubMed

    Eisele, S C; Dietrich, J

    2015-09-01

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

  11. An unusually severe case of dermatosis neglecta: a diagnostic challenge.

    PubMed

    Pérez-Rodríguez, Irma Margarita; Muñoz-Garza, Fania Zamantta; Ocampo-Candiani, Jorge

    2014-05-01

    Dermatosis neglecta is a condition secondary to lack of cleanliness, characterized by the formation of hyperkeratotic plaques located in a particular region of the body, usually due to a disability, and it is considered a diagnostic challenge because it can mimic other entities. We present the case of an 18-year-old woman with a 2-month history of progressive brown verrucous plaque in her face. Our first impression was seborrheic dermatitis and she was treated with facial cleanser soap and topic hydrocortisone 1%. One month later, she arrived with new lesions. Because of this our diagnosis changed to Darier's disease versus seborrheic pemphigus versus foliaceus pemphigus. Histopathology and immunofluorescence studies were compatible with seborrheic dermatitis. The patient complained of depression and social withdrawal and denied facial cleansing. Facial cleansing was performed during consultation presenting resolution of the lesions, which confirmed the diagnosis of dermatosis neglecta. Dermatosis neglecta is a disease that can be frequently misdiagnosed, since it has many differential diagnoses, such as hyperkeratotic syndromes. It should be recognized early and aggressive diagnostic and therapeutic methods should be avoided.

  12. An Unusually Severe Case of Dermatosis Neglecta: A Diagnostic Challenge

    PubMed Central

    Pérez-Rodríguez, Irma Margarita; Muñoz-Garza, Fania Zamantta; Ocampo-Candiani, Jorge

    2014-01-01

    Dermatosis neglecta is a condition secondary to lack of cleanliness, characterized by the formation of hyperkeratotic plaques located in a particular region of the body, usually due to a disability, and it is considered a diagnostic challenge because it can mimic other entities. We present the case of an 18-year-old woman with a 2-month history of progressive brown verrucous plaque in her face. Our first impression was seborrheic dermatitis and she was treated with facial cleanser soap and topic hydrocortisone 1%. One month later, she arrived with new lesions. Because of this our diagnosis changed to Darier's disease versus seborrheic pemphigus versus foliaceus pemphigus. Histopathology and immunofluorescence studies were compatible with seborrheic dermatitis. The patient complained of depression and social withdrawal and denied facial cleansing. Facial cleansing was performed during consultation presenting resolution of the lesions, which confirmed the diagnosis of dermatosis neglecta. Dermatosis neglecta is a disease that can be frequently misdiagnosed, since it has many differential diagnoses, such as hyperkeratotic syndromes. It should be recognized early and aggressive diagnostic and therapeutic methods should be avoided. PMID:25298763

  13. Development and validation of the Diagnostic Interview Adjustment Disorder (DIAD).

    PubMed

    Cornelius, L R; Brouwer, S; de Boer, M R; Groothoff, J W; van der Klink, J J L

    2014-06-01

    Adjustment disorders (ADs) are under-researched due to the absence of a reliable and valid diagnostic tool. This paper describes the development and content/construct validation of a fully structured interview for the diagnosis of AD, the Diagnostic Interview Adjustment Disorder (DIAD). We developed the DIAD by partly adjusting and operationalizing DSM-IV criteria. Eleven experts were consulted on the content of the DIAD. In addition, the DIAD was administered by trained lay interviewers to a representative sample of disability claimants (n = 323). To assess construct validity of the DIAD, we explored the associations between the AD classification by the DIAD and summary scores of the Kessler Psychological Distress 10-item Scale (K10) and the World Health Organization Disability Assessment Schedule (WHODAS) by linear regression. Expert agreement on content of the DIAD was moderate to good. The prevalence of AD using the DIAD with revised criteria for the diagnosis AD was 7.4%. The associations of AD by the DIAD with average sum scores on the K10 and the WHODAS supported construct validity of the DIAD. The results provide a first indication that the DIAD is a valid instrument to diagnose AD. Further studies on reliability and on other aspects of validity are needed. PMID:24478059

  14. Eye Movement Measurement in Diagnostic Assessment of Disorders of Consciousness

    PubMed Central

    Ting, Windsor Kwan-Chun; Perez Velazquez, Jose Luis; Cusimano, Michael D.

    2014-01-01

    We review the literature to appraise the evidence supporting or disputing the use of eye movement measurement in disorders of consciousness (DOC) with low levels of arousal or awareness, such as minimally conscious state (MCS), vegetative state (VS), and coma for diagnostic and prognostic purposes. We will focus on the effectiveness of each technique in the diagnostic classification of these patients and the gradual trend in research from manual to computerized tracking methods. New tools have become available at clinicians’ disposal to assess eye movements with high spatial and temporal fidelity. The close relationship between eye movement generation and organic dysfunction in the brain allows these tools to be applied to the assessment of severe DOC as a unique supplementary toolset. We posit that eye tracking can improve clinical diagnostic precision for DOC, a key component of assessment that often dictates the course of clinical care in DOC patients. We see the emergence of long-term eye-tracking studies with seamless integration of technology in the future to improve the performance of clinical assessment in DOC. PMID:25120529

  15. Diagnostic Specificity of Neurophysiological Endophenotypes in Schizophrenia and Bipolar Disorder

    PubMed Central

    Johannesen, Jason K.

    2013-01-01

    Background: The utility of an endophenotype depends on its ability to reduce complex disorders into stable, genetically linked phenotypes. P50 and P300 event-related potential (ERP) measures are endophenotype candidates for schizophrenia; however, their abnormalities are broadly observed across neuropsychiatric disorders. This study examined the diagnostic efficiency of P50 and P300 in schizophrenia as compared with healthy and bipolar disorder samples. Supplemental ERP measures and a multivariate classification approach were evaluated as methods to improve specificity. Methods: Diagnostic classification was first modeled in schizophrenia (SZ = 50) and healthy normal (HN = 50) samples using hierarchical logistic regression with predictors blocked by 4 levels of analysis: (1) P50 suppression, P300 amplitude, and P300 latency; (2) N100 amplitude; (3) evoked spectral power; and (4) P50 and P300 hemispheric asymmetry. The optimal model was cross-validated in a holdout sample (SZ = 34, HN = 31) and tested against a bipolar (BP = 50) sample. Results: P50 and P300 endophenotypes classified SZ from HN with 71% accuracy (sensitivity = .70, specificity = .72) but did not differentiate SZ from BP above chance level. N100 and spectral power measures improved classification accuracy of SZ vs HN to 79% (sensitivity = .78, specificity = .80) and SZ vs BP to 72% (sensitivity = .74, specificity = .70). Cross validation analyses supported the stability of these models. Conclusions: Although traditional P50 and P300 measures failed to differentiate schizophrenia from bipolar participants, N100 and evoked spectral power measures added unique variance to classification models and improved accuracy to nearly the same level achieved in comparison of schizophrenia to healthy individuals. PMID:22927673

  16. Clinical Use of the Pediatric Attention Disorders Diagnostic Screener for Children at Risk for Attention Deficit Hyperactivity Disorder: Case Illustrations

    ERIC Educational Resources Information Center

    Keiser, Ashley; Reddy, Linda

    2013-01-01

    The Pediatric Attention Disorders Diagnostic Screener is a multidimensional, computerized screening tool designed to assess attention and global aspects of executive functioning in children at risk for attention disorders. The screener consists of a semi-structured diagnostic interview, brief parent and teacher rating scales, 3 computer-based…

  17. Disorders Related to Use of Psychoactive Substances in DSM-5: Changes and Challenges

    PubMed Central

    Bhad, Roshan; Lal, Rakesh; Balhara, Yatan Pal Singh

    2015-01-01

    In the most recent edition of Diagnostic and Statistical Manual (DSM) that is DSM-5 many modifications have been made in substance use disorder section. These include changes in terminology; sections and categories; diagnostic criteria; threshold for diagnosis; severity; and specifier. Additionally, there have been certain additions and omissions from the earlier version. Critical evaluation of the changes made to the section on disorders related to use of psychoactive substances in India context has not been published so far. The current paper presents a critique of the changes made to the substance use disorder section in DSM-5. The rationale for these changes put forth by DSM-5 work group on substance related disorders have been discussed. Additionally, attempt has been made to highlight the possible future challenges consequent to the current nosological revision for substance use disorder category. Overall DSM-5 seems to be promising in fulfilling its goal of DSM-ICD harmonisation and movement towards an internationally compatible and practical diagnostic system for mental health disorders. It has increased the scope of addiction by inclusion of behavioural addiction. It has also tried to balance the categorical and dimensional approach to diagnosis. However, the real test of this newer edition of one of the most commonly used nosological systems will be during clinical care and research. This will help address the debatable issues regarding the changes that DSM-5 brings with it. PMID:26702188

  18. Clinical and diagnostic aspects of gluten related disorders

    PubMed Central

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

    2015-01-01

    Gluten is one of the most abundant and widely distributed components of food in many areas. It can be included in wheat, barley, rye, and grains such as oats, barley, spelt, kamut, and triticale. Gluten-containing grains are widely consumed; in particular, wheat is one of the world’s primary sources of food, providing up to 50% of the caloric intake in both industrialized and developing countries. Until two decades ago, celiac disease (CD) and other gluten-related disorders were believed to be exceedingly rare outside of Europe and were relatively ignored by health professionals and the global media. In recent years, however, the discovery of important diagnostic and pathogenic milestones led CD from obscurity to global prominence. In addition, interestingly, people feeding themselves with gluten-free products greatly outnumber patients affected by CD, fuelling a global consumption of gluten-free foods with approximately $2.5 billion in United States sales each year. The acknowledgment of other medical conditions related to gluten that has arisen as health problems, providing a wide spectrum of gluten-related disorders. In February 2011, a new nomenclature for gluten-related disorders was created at a consensus conference in London. In this review, we analyse innovations in the field of research that emerged after the creation of the new classification, with particular attention to the new European Society for Paediatric Gastroenterology, Hepatology and Nutrition guidelines for CD and the most recent research about non-celiac gluten sensitivity. PMID:25789300

  19. Clinical and diagnostic aspects of gluten related disorders.

    PubMed

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

    2015-03-16

    Gluten is one of the most abundant and widely distributed components of food in many areas. It can be included in wheat, barley, rye, and grains such as oats, barley, spelt, kamut, and triticale. Gluten-containing grains are widely consumed; in particular, wheat is one of the world's primary sources of food, providing up to 50% of the caloric intake in both industrialized and developing countries. Until two decades ago, celiac disease (CD) and other gluten-related disorders were believed to be exceedingly rare outside of Europe and were relatively ignored by health professionals and the global media. In recent years, however, the discovery of important diagnostic and pathogenic milestones led CD from obscurity to global prominence. In addition, interestingly, people feeding themselves with gluten-free products greatly outnumber patients affected by CD, fuelling a global consumption of gluten-free foods with approximately $2.5 billion in United States sales each year. The acknowledgment of other medical conditions related to gluten that has arisen as health problems, providing a wide spectrum of gluten-related disorders. In February 2011, a new nomenclature for gluten-related disorders was created at a consensus conference in London. In this review, we analyse innovations in the field of research that emerged after the creation of the new classification, with particular attention to the new European Society for Paediatric Gastroenterology, Hepatology and Nutrition guidelines for CD and the most recent research about non-celiac gluten sensitivity. PMID:25789300

  20. Autistic spectrum disorder: the challenge for dentists.

    PubMed

    Berman, Marvin H

    2010-10-01

    Those who actively work with children are, with increasing frequency, encountering patients who have been diagnosed with autistic disorders. Often, dentists may be the first healthcare providers to recognize that a 1- or 2-year-old child has some type of extraordinary pervasive behavioral disorder that a parent, fearing the worst, may have suspected instinctively and emotionally but never faced objectively. Currently, there are no empirical biological tests (eg, blood tests or brain scans) for ASD that are reliable. The definitive diagnosis of ASD is usually made by pediatricians, psychologists, or psychiatrists who institute a process of analysis which involves a developmental and clinical history, tests for cognitive function, and assessment of receptive and expressive language skills. The etiology of ASD is an enigma. Highly regarded researchers are of the opinion that there is probably more than one cause since the disorder can have such disparate manifestations. Genetics, environmental poisons, neurologic psychopathy, dietary deficiencies, and allergies have all been implicated. Pervasive developmental disorders, Asperger's syndrome, Rett syndrome, and childhood degenerative disorders are all considered a part of the ASD group, but the distinction between the various entities is not always clear. Given the fact that the etiology and the increased incidence of the various ASDs are scientifically puzzling, treatment modalities tend to be wide ranging and very much trial and error, especially since there is no cure. Dental professionals who treat patients with ASDs should be knowledgeable about the special needs of not only these patients, but also of their parents.

  1. The Autism Diagnostic Observation Schedule--Toddler Module: A New Module of a Standardized Diagnostic Measure for Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Luyster, Rhiannon; Gotham, Katherine; Guthrie, Whitney; Coffing, Mia; Petrak, Rachel; Pierce, Karen; Bishop, Somer; Esler, Amy; Hus, Vanessa; Oti, Rosalind; Richler, Jennifer; Risi, Susan; Lord, Catherine

    2009-01-01

    The Autism Diagnostic Observation Schedule (ADOS; Lord et al., J Autism Dev Disord, 30(3):205-223, 2000) is widely accepted as a "gold standard" diagnostic instrument, but it is of restricted utility with very young children. The purpose of the current project was to modify the ADOS for use in children under 30 months of age. A modified ADOS, the…

  2. Silent GH pituitary tumor: diagnostic and therapeutic challenges.

    PubMed

    Chinezu, Laura; Jouanneau, Emmanuel; Vasiljevic, Alexandre; Trouillas, Jacqueline; Raverot, Gérald

    2013-12-01

    Silent GH pituitary tumors are characterized by the absence of clinical features of acromegaly, normal to slightly elevated GH and/or IGF-1 levels, as well as immunohistochemical expression of GH. The diagnostic and the therapeutic challenges of these "silent" GH tumors are illustrated in this case report, supported by a literature review. A 20-year-old woman presented with visual disturbances related to an invasive macroadenoma but without clinical and biological signs of GH hypersecretion. After two surgeries, a residual tumor remained in the right cavernous sinus. According to the recent classifications, the histopathological diagnosis was a sparsely GH-PRL atypical adenoma or invasive and proliferative (Ki-67 index: 4%) and p53 positive (1%) grade 2b tumor, with high expression (>75% of the cells) of somatostatin receptors type 2A and 5. From this case and the review of the literature, an invasive macroadenoma in young women requires: the preoperative determination of plasma GH and IGF-1, the immunohistochemical detection in the tumor of GH, PRL, somatostatin receptor expression and the evaluation of the proliferation (mitoses count, Ki-67 and p53 indexes). The suspicion of an aggressive behavior needs a particular follow-up. In the case of tumor remnant, a postoperative treatment such as radiotherapy and/or somatostatin analogs must be considered.

  3. Parasitic infections in HIV infected individuals: Diagnostic & therapeutic challenges

    PubMed Central

    Nissapatorn, Veeranoot; Sawangjaroen, Nongyao

    2011-01-01

    After 30 years of the human immunodeficiency virus (HIV) epidemic, parasites have been one of the most common opportunistic infections (OIs) and one of the most frequent causes of morbidity and mortality associated with HIV-infected patients. Due to severe immunosuppression, enteric parasitic pathogens in general are emerging and are OIs capable of causing diarrhoeal disease associated with HIV. Of these, Cryptosporidium parvum and Isospora belli are the two most common intestinal protozoan parasites and pose a public health problem in acquired immunodeficiency syndrome (AIDS) patients. These are the only two enteric protozoan parasites that remain in the case definition of AIDS till today. Leismaniasis, strongyloidiasis and toxoplasmosis are the three main opportunistic causes of systemic involvements reported in HIV-infected patients. Of these, toxoplasmosis is the most important parasitic infection associated with the central nervous system. Due to its complexity in nature, toxoplasmosis is the only parasitic disease capable of not only causing focal but also disseminated forms and it has been included in AIDS-defining illnesses (ADI) ever since. With the introduction of highly active anti-retroviral therapy (HAART), cryptosporidiosis, leishmaniasis, schistosomiasis, strongyloidiasis, and toxoplasmosis are among parasitic diseases reported in association with immune reconstitution inflammatory syndrome (IRIS). This review addresses various aspects of parasitic infections in term of clinical, diagnostic and therapeutic challenges associated with HIV-infection. PMID:22310820

  4. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders

    PubMed Central

    Banwell, Brenda; Bennett, Jeffrey L.; Cabre, Philippe; Carroll, William; Chitnis, Tanuja; de Seze, Jérôme; Fujihara, Kazuo; Greenberg, Benjamin; Jacob, Anu; Jarius, Sven; Lana-Peixoto, Marco; Levy, Michael; Simon, Jack H.; Tenembaum, Silvia; Traboulsee, Anthony L.; Waters, Patrick; Wellik, Kay E.

    2015-01-01

    Neuromyelitis optica (NMO) is an inflammatory CNS syndrome distinct from multiple sclerosis (MS) that is associated with serum aquaporin-4 immunoglobulin G antibodies (AQP4-IgG). Prior NMO diagnostic criteria required optic nerve and spinal cord involvement but more restricted or more extensive CNS involvement may occur. The International Panel for NMO Diagnosis (IPND) was convened to develop revised diagnostic criteria using systematic literature reviews and electronic surveys to facilitate consensus. The new nomenclature defines the unifying term NMO spectrum disorders (NMOSD), which is stratified further by serologic testing (NMOSD with or without AQP4-IgG). The core clinical characteristics required for patients with NMOSD with AQP4-IgG include clinical syndromes or MRI findings related to optic nerve, spinal cord, area postrema, other brainstem, diencephalic, or cerebral presentations. More stringent clinical criteria, with additional neuroimaging findings, are required for diagnosis of NMOSD without AQP4-IgG or when serologic testing is unavailable. The IPND also proposed validation strategies and achieved consensus on pediatric NMOSD diagnosis and the concepts of monophasic NMOSD and opticospinal MS. PMID:26092914

  5. Diagnostic challenge of gastrointestinal tuberculosis: a report of 34 cases and an overview of the literature.

    PubMed

    Radzi, Muhammad; Rihan, Nik; Vijayalakshmi, Natesan; Pani, Subhada Prasad

    2009-05-01

    We report 34 cases of gastrointestinal TB from Malaysia and present an overview of the diagnostic challenges. A concerted effort is necessary to improve the existing diagnostic methods, and develop and evaluate newer diagnostic tools through well designed multi-center studies. PMID:19842436

  6. Tourette and tic disorders in ICD-11: standing at the diagnostic crossroads.

    PubMed

    Woods, Douglas W; Thomsen, Per H

    2014-01-01

    This article reflects discussion by the WHO ICD-11 Working Group on the Classification of Obsessive-Compulsive and Related Disorders. After reviewing the historical classification of tic disorders, this article discusses their placement in ICD-11. Existing problems with diagnostic labels and criteria, appropriate placement of the tic disorders category within the ICD-11 system, and pragmatic factors affecting classification are reviewed. The article ends with recommendations to (a) maintain consistency with the DSM-5 diagnostic labels for tic disorders, (b) add a minimum duration guideline for a provisional tic disorder diagnosis, (c) remove the multiple motor tic guideline for the diagnosis of Tourette disorder, and (d) co-parent the tic disorder diagnoses in the disorders of the nervous system and the mental and behavioral disorders categories, with secondary co-parenting in the obsessive-compulsive and related disorders and neurodevelopmental disorders sections.

  7. Chronic inflammatory demyelinating polyradiculoneuropathy: diagnostic and therapeutic challenges for a treatable condition.

    PubMed

    Vallat, Jean-Michel; Sommer, Claudia; Magy, Laurent

    2010-04-01

    Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a chronic neuropathy of supposed immune origin. Understanding of its pathophysiology has recently improved, although its causes remain unclear. The classic presentation of CIDP includes sensory and motor symptoms in the distal and proximal segments of the four limbs with areflexia, evolving over more than 8 weeks. Raised protein concentrations in CSF and heterogeneous slowing of nerve conduction are typical of the condition. In addition to this usual phenotype, distribution of symptoms, disease course, and disability can be heterogeneous, leading to underdiagnosis of the disorder. Diagnosis is sometimes challenging and can require use of imaging and nerve biopsy. Steroids and intravenous immunoglobulin are effective, and plasma exchange can be helpful as rescue therapy. The usefulness of immunosuppressants needs to be established. The identification of specific diagnostic markers and new therapeutic strategies with conventional or targeted immunotherapy are needed to improve the outlook for patients with CIDP.

  8. Solitary oral ulceration as the first appearance of lymphomatoid papulosis: a diagnostic challenge.

    PubMed

    de-Misa, R F; García, M; Dorta, S; Febles, C; Hernández-Machín, B; Serrano, S; Pujol, R M; Suárez, J

    2010-03-01

    Lymphomatoid papulosis (LyP) may involve any cutaneous site but the oral areas seems to be an unusual location. We report a 72-year-old patient who presented with a 1-week history of a solitary oral ulcer on the lateral tongue, which had raised and indurated borders. Although squamous cell carcinoma was initially diagnosed, the morphological, phenotypical and genotypical studies confirmed diagnosis of LyP. We are not aware of previous reports of definite LyP presenting as oral lesions, which may pose a diagnostic challenge. The differential diagnosis includes several neoplastic, reactive and infectious disorders. LyP should be considered in patients showing solitary, rapidly developing ulcers with raised, indurated borders in the oral cavity.

  9. Challenges in understanding psychiatric disorders and developing therapeutics: a role for zebrafish

    PubMed Central

    McCammon, Jasmine M.; Sive, Hazel

    2015-01-01

    ABSTRACT The treatment of psychiatric disorders presents three major challenges to the research and clinical community: defining a genotype associated with a disorder, characterizing the molecular pathology of each disorder and developing new therapies. This Review addresses how cellular and animal systems can help to meet these challenges, with an emphasis on the role of the zebrafish. Genetic changes account for a large proportion of psychiatric disorders and, as gene variants that predispose to psychiatric disease are beginning to be identified in patients, these are tractable for study in cellular and animal systems. Defining cellular and molecular criteria associated with each disorder will help to uncover causal physiological changes in patients and will lead to more objective diagnostic criteria. These criteria should also define co-morbid pathologies within the nervous system or in other organ systems. The definition of genotypes and of any associated pathophysiology is integral to the development of new therapies. Cell culture-based approaches can address these challenges by identifying cellular pathology and by high-throughput screening of gene variants and potential therapeutics. Whole-animal systems can define the broadest function of disorder-associated gene variants and the organismal impact of candidate medications. Given its evolutionary conservation with humans and its experimental tractability, the zebrafish offers several advantages to psychiatric disorder research. These include assays ranging from molecular to behavioural, and capability for chemical screening. There is optimism that the multiple approaches discussed here will link together effectively to provide new diagnostics and treatments for psychiatric patients. PMID:26092527

  10. Should Social Workers Use "Diagnostic and Statistical Manual of Mental Disorders-5?"

    ERIC Educational Resources Information Center

    Frances, Allen; Jones, K. Dayle

    2014-01-01

    Up until now, social workers have depended on the "Diagnostic and Statistical Manual of Mental Disorders" ("DSM") as the primary diagnostic classification for mental disorders. However, the "DSM-5" revision includes scientifically unfounded, inadequately tested, and potentially dangerous diagnoses that may lead them…

  11. Diagnostic ambivalence: psychiatric workarounds and the Diagnostic and Statistical Manual of Mental Disorders.

    PubMed

    Whooley, Owen

    2010-03-01

    In 1980 the American Psychiatric Association (APA), faced with increased professional competition, revised the Diagnostic and Statistical Manual of Mental Disorders (DSM). Psychiatric expertise was redefined along a biomedical model via a standardised nosology. While they were an integral part of capturing professional authority, the revisions demystified psychiatric expertise, leaving psychiatrists vulnerable to infringements upon their autonomy by institutions adopting the DSM literally. This research explores the tensions surrounding standardisation in psychiatry. Drawing on in-depth interviews with psychiatrists, I explore the 'sociological ambivalence' psychiatrists feel towards the DSM, which arises from the tension between the desire for autonomy in practice and the professional goal of legitimacy within the system of mental health professions. To carve a space for autonomy for their practice, psychiatrists develop 'workarounds' that undermine the DSM in practice. These workarounds include employing alternative diagnostic typologies, fudging the numbers (or codes) on official paperwork and negotiating diagnoses with patients. In creating opportunities for patient input and resistance to fixed diagnoses, the varied use of the DSM raises fundamental questions for psychiatrists about the role of the biomedical model of mental illness, especially its particular manifestation in the DSM.

  12. Diagnostic Labeling in Juvenile Court: How Do Descriptions of Psychopathy and Conduct Disorder Influence Judges?

    ERIC Educational Resources Information Center

    Murrie, Daniel C.; Boccaccini, Marcus T.; McCoy, Wendy; Cornell, Dewey G.

    2007-01-01

    This study examined the influence of diagnostic criteria and diagnostic labels for psychopathy or conduct disorder on judicial decisions. A national sample of judges (N = 326) rendered hypothetical dispositions based on 1 of 12 mock psychological evaluations. The evaluations varied the presence of 2 sets of diagnostic criteria (antisocial…

  13. Posttraumatic Stress Disorder: Diagnostic Data Analysis by Data Mining Methodology

    PubMed Central

    Marinić, Igor; Supek, Fran; Kovačić, Zrnka; Rukavina, Lea; Jendričko, Tihana; Kozarić-Kovačić, Dragica

    2007-01-01

    Aim To use data mining methods in assessing diagnostic symptoms in posttraumatic stress disorder (PTSD) Methods The study included 102 inpatients: 51 with a diagnosis of PTSD and 51 with psychiatric diagnoses other than PTSD. Several models for predicting diagnosis were built using the random forest classifier, one of the intelligent data analysis methods. The first prediction model was based on a structured psychiatric interview, the second on psychiatric scales (Clinician-administered PTSD Scale – CAPS, Positive and Negative Syndrome Scale – PANSS, Hamilton Anxiety Scale – HAMA, and Hamilton Depression Scale – HAMD), and the third on combined data from both sources. Additional models placing more weight on one of the classes (PTSD or non-PTSD) were trained, and prototypes representing subgroups in the classes constructed. Results The first model was the most relevant for distinguishing PTSD diagnosis from comorbid diagnoses such as neurotic, stress-related, and somatoform disorders. The second model pointed out the scores obtained on the Clinician-administered PTSD Scale (CAPS) and additional Positive and Negative Syndrome Scale (PANSS) scales, together with comorbid diagnoses of neurotic, stress-related, and somatoform disorders as most relevant. In the third model, psychiatric scales and the same group of comorbid diagnoses were found to be most relevant. Specialized models placing more weight on either the PTSD or non-PTSD class were able to better predict their targeted diagnoses at some expense of overall accuracy. Class subgroup prototypes mainly differed in values achieved on psychiatric scales and frequency of comorbid diagnoses. Conclusion Our work demonstrated the applicability of data mining methods for the analysis of structured psychiatric data for PTSD. In all models, the group of comorbid diagnoses, including neurotic, stress-related, and somatoform disorders, surfaced as important. The important attributes of the data, based on the

  14. Intravascular Large B-Cell Lymphoma: A Difficult Diagnostic Challenge.

    PubMed

    Khan, Maria S; McCubbin, Mark; Nand, Sucha

    2014-01-01

    Case Presentation. A 69-year-old Hispanic male, with a past history of diabetes and coronary disease, was admitted for fever, diarrhea, and confusion of 4 weeks duration. Physical examination showed a disoriented patient with multiple ecchymoses, possible ascites, and bilateral scrotal swelling. Hemoglobin was 6.7, prothrombin time (PT) 21.4 seconds with international normalized ratio 2.1, partial thromboplastin time (PTT) 55.6 seconds, fibrin split 10 µg/L, and lactate dehydrogenase (LDH) 1231 IU/L. Except for a positive DNA test for Epstein-Barr virus (EBV) infection, extensive diagnostic workup for infections, malignancy, or a neurological cause was negative. Mixing studies revealed a nonspecific inhibitor of PT and PTT but Factor VIII levels were normal. The patient was empirically treated with antibiotics but developed hypotension and died on day 27 of admission. At autopsy, patient was found to have intravascular diffuse large B-cell lymphoma involving skin, testes, lung, and muscles. The malignant cells were positive for CD20, CD791, Mum-1, and Pax-5 and negative for CD3, CD5, CD10, CD30, and Bcl-6. The malignant cells were 100% positive for Ki-67. Discussion. Intravascular large cell B-cell lymphoma (IVLBCL) is rare form of diffuse large B-cell lymphoma and tends to proliferate within small blood vessels, particularly capillaries and postcapillary venules. The cause of its affinity for vascular bed remains unknown. In many reports, IVLBCL was associated with HIV, HHV8, and EBV infections. The fact that our case showed evidence of EBV infection lends support to the association of this diagnosis to viral illness. The available literature on this subject is scant, and in many cases, the diagnosis was made only at autopsy. The typical presentation of this disorder is with B symptoms, progressive neurologic deficits, and skin findings. Bone marrow, spleen, and liver are involved in a minority of patients. Nearly all patients have elevated LDH, and about 65% are

  15. Fifteen-year follow-up of Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition depressive disorders: the prognostic significance of psychotic features.

    PubMed

    Jäger, Markus; Bottlender, Ronald; Strauss, Anton; Möller, Hans-Jürgen

    2005-01-01

    Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), after Kraepelin's original description of "manic-depressive insanity," embodied a broad concept of affective disorders including mood-congruent and mood-incongruent psychotic features. Controversial results have been reported about the prognostic significance of psychotic symptoms in depressive disorders challenging this broad concept of affective disorders. One hundred seventeen inpatients first hospitalized in 1980 to 1982 who retrospectively fulfilled the DSM-IV criteria for depressive disorders with mood-congruent or mood-incongruent psychotic features (n = 20), nonpsychotic depressive disorders (n = 33), or schizophrenia (n = 64) were followed up 15 years after their first hospitalization. Global functioning was recorded with the Global Assessment Scale; the clinical picture at follow-up was assessed using the Hamilton Rating Scale for Depression, the Positive and Negative Syndrome Scale, and the Scale for the Assessment of Negative Symptoms. With respect to global functioning, clinical picture, and social impairment at follow-up, depressive disorders with psychotic features were similar to those without, but markedly different from schizophrenia. However, patients with psychotic depressive disorders experienced more rehospitalizations than those with nonpsychotic ones. The findings indicating low prognostic significance of psychotic symptoms in depressive disorders are in line with the broad concept of affective disorders in DSM-IV.

  16. Challenges for Plasma Diagnostics in a Next Step Device (FIRE)

    SciTech Connect

    Kenneth M. Young

    2002-01-28

    The physics program of any next-step tokamak such as FIRE [Fusion Ignition Research Experiment] sets demands for plasma measurement which are at least as comprehensive as on present tokamaks, with the additional capabilities needed for control of the plasma and for understanding the effects of the alpha-particles. The diagnostic instrumentation must be able to provide the fine spatial and temporal resolution required for the advanced tokamak plasma scenarios. It must also be able to overcome the effects of neutron- and gamma-induced electrical noise in ceramic components or detectors, and fluorescence and absorption in optical components. There are practical engineering issues of minimizing radiation streaming while providing essential diagnostic access to the plasma. Many diagnostics will require components at or close to the first wall, e.g., ceramics and MI cable for magnetic diagnostics and mirrors for optical diagnostics; these components must be mounted to operate, and survive, i n fluxes which require special material selection. A better set of diagnostics of alpha-particles than that available for the TFTR [Tokamak Fusion Test Reactor] is essential; it must be qualified well before moving into D-T [deuterim-tritium] experiments. A start has been made to assessing the potential implementation of key diagnostics for the FIRE device. The present status is described.

  17. Caffeine challenge test and panic disorder: a systematic literature review.

    PubMed

    Vilarim, Marina Machado; Rocha Araujo, Daniele Marano; Nardi, Antonio Egidio

    2011-08-01

    This systematic review aimed to examine the results of studies that have investigated the induction of panic attacks and/or the anxiogenic effect of the caffeine challenge test in patients with panic disorder. The literature search was performed in PubMed, Biblioteca Virtual em Saúde and the ISI Web of Knowledge. The words used for the search were caffeine, caffeine challenge test, panic disorder, panic attacks and anxiety disorder. In total, we selected eight randomized, double-blind studies where caffeine was administered orally, and none of them controlled for confounding factors in the analysis. The percentage of loss during follow-up ranged between 14.3% and 73.1%. The eight studies all showed a positive association between caffeine and anxiogenic effects and/or panic disorder.

  18. Diagnostics for invasive Salmonella infections: Current challenges and future directions.

    PubMed

    Andrews, Jason R; Ryan, Edward T

    2015-06-19

    Invasive Salmonellosis caused by Salmonella enterica serotype Typhi or Paratyphi A, B, C, or invasive non-typhoidal Salmonella serotypes, is an immensely important disease cluster for which reliable, rapid diagnostic tests are not available. Blood culture remains the gold standard but is insensitive, slow, and resource-intensive. Existing molecular diagnostics have poor sensitivity due to the low organism burden in bodily fluids. Commercially available serologic tests for typhoidal Salmonella have had limited sensitivity and specificity. In high burden, resource-limited settings, reliance on clinical diagnosis or inaccurate tests often results in frequent, unnecessary treatment, which contributes selective pressure for the emergence of antimicrobial resistance. This practice also results in inadequate therapy for other etiologies of acute febrile illnesses, including leptospirosis and rickettsial infections. A number of novel serologic, molecular, transcriptomic and metabolomic approaches to diagnostics are under development. Target product profiles that outline specific needs may focus development and investment, and establish benchmarks for accuracy, cost, speed, and portability of new diagnostics. Of note, a critical barrier to diagnostic assay rollout will be the low cost and low perceived harm of empiric therapy on behalf of providers and patients, which leaves few perceived incentives to utilize diagnostics. Approaches that align incentives with societal goals of limiting inappropriate antimicrobial use, such as subsidizing diagnostics, may be essential for stimulating development and uptake of such assays in resource-limited settings. New diagnostics for invasive Salmonellosis should be developed and deployed alongside diagnostics for alternative etiologies of acute febrile illnesses to improve targeted use of antibiotics.

  19. Diagnostics for invasive Salmonella infections: current challenges and future directions

    PubMed Central

    Andrews, Jason R.; Ryan, Edward T.

    2015-01-01

    Invasive Salmonellosis caused by Salmonella enterica serotype Typhi or Paratyphi A, B, C, or invasive non-typhoidal Salmonella serotypes, is an immensely important disease cluster for which reliable, rapid diagnostic tests are not available. Blood culture remains the gold standard but is insensitive, slow, and resource-intensive. Existing molecular diagnostics have poor sensitivity due to the low organism burden in bodily fluids. Commercially available serologic tests for typhoidal Salmonella have had limited sensitivity and specificity. In high burden, resource-limited settings, reliance on clinical diagnosis or inaccurate tests often results in frequent, unnecessary treatment, which contributes selective pressure for the emergence of antimicrobial resistance. This practice also results in inadequate therapy for other etiologies of acute febrile illnesses, including leptospirosis and rickettsial infections. A number of novel serologic, molecular, transcriptomic and metabolomic approaches to diagnostics are under development. Target product profiles that outline specific needs may focus development and investment, and establish benchmarks for accuracy, cost, speed, and portability of new diagnostics. Of note, a critical barrier to diagnostic assay rollout will be the low cost and low perceived harm of empiric therapy on behalf of providers and patients, which leaves few perceived incentives to utilize diagnostics. Approaches that align incentives with societal goals of limiting inappropriate antimicrobial use, such as subsidizing diagnostics, may be essential for stimulating development and uptake of such assays in resource-limited settings. New diagnostics for invasive Salmonellosis should be developed and deployed alongside diagnostics for alternative etiologies of acute febrile illnesses to improve targeted use of antibiotics. PMID:25937611

  20. Disorders of sex development: effect of molecular diagnostics.

    PubMed

    Achermann, John C; Domenice, Sorahia; Bachega, Tania A S S; Nishi, Mirian Y; Mendonca, Berenice B

    2015-08-01

    Disorders of sex development (DSDs) are a diverse group of conditions that can be challenging to diagnose accurately using standard phenotypic and biochemical approaches. Obtaining a specific diagnosis can be important for identifying potentially life-threatening associated disorders, as well as providing information to guide parents in deciding on the most appropriate management for their child. Within the past 5 years, advances in molecular methodologies have helped to identify several novel causes of DSDs; molecular tests to aid diagnosis and genetic counselling have now been adopted into clinical practice. Occasionally, genetic profiling of embryos prior to implantation as an adjunct to assisted reproduction, prenatal diagnosis of at-risk pregnancies and confirmatory testing of positive results found during newborn biochemical screening are performed. Of the available genetic tests, the candidate gene approach is the most popular. New high-throughput DNA analysis could enable a genetic diagnosis to be made when the aetiology is unknown or many differential diagnoses are possible. Nonetheless, concerns exist about the use of genetic tests. For instance, a diagnosis is not always possible even using new molecular approaches (which can be worrying for the parents) and incidental information obtained during the test might cause anxiety. Careful selection of the genetic test indicated for each condition remains important for good clinical practice. The purpose of this Review is to describe advances in molecular biological techniques for diagnosing DSDs.

  1. Tularemia without lesions in grey tree squirrels: A diagnostic challenge

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Fifteen cases of Francisella tularenesis infection (tularemia) were identified in western grey (Sciurus griseus) and eastern grey (Sciurus carolinesis) squirrels submitted to the Washington Animal Disease Diagnostic Laboratory between 2008 and 2011. All of the squirrels originated in Washington stat...

  2. A Study of the Diagnostic Drawing Series with Eating Disordered Patients.

    ERIC Educational Resources Information Center

    Kessler, Kathie

    1994-01-01

    Examined possible existence of structural and content elements in Diagnostic Drawing Series (DDS) significant to eating-disordered population. Findings from 81 women with eating-disorders revealed that profile of eating disordered subjects did not vary from control group profile except for groundline and falling apart trees. (Author/NB)

  3. [Personality disorders and psychopathology following trauma. Reflection on diagnostic classification].

    PubMed

    Wöller, W; Kruse, J

    2003-11-01

    Pervasive personality disorders have been shown to be long-term sequelae of cumulative childhood physical and sexual traumatization. This finding is not reflected in DSM-IV and ICD-10 classifications where post-traumatic stress disorder is confined to intrusions, avoidance, numbing, and hyperarousal. However, there is growing evidence that trauma etiology should be taken into account in planning treatment for personality disorders. It is not yet clear whether childhood traumatization is more strongly associated with borderline personality disorder than with other personality disorders. The finding of a substantial overlap between borderline personality disorder and dissociative identity disorder gives rise to discussions concerning the relationship of these two pathologies.

  4. Does sex influence the diagnostic evaluation of autism spectrum disorder in adults?

    PubMed

    Wilson, C Ellie; Murphy, Clodagh M; McAlonan, Grainne; Robertson, Dene M; Spain, Debbie; Hayward, Hannah; Woodhouse, Emma; Deeley, P Quinton; Gillan, Nicola; Ohlsen, J Chris; Zinkstok, Janneke; Stoencheva, Vladimira; Faulkner, Jessica; Yildiran, Hatice; Bell, Vaughan; Hammond, Neil; Craig, Michael C; Murphy, Declan Gm

    2016-10-01

    It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more males (72%) than females (66%) were diagnosed with an autism spectrum disorder of any subtype (x(2) = 4.09; p = 0.04). In high-functioning autism spectrum disorder adults (IQ > 70; N = 827), there were no significant sex differences in severity of socio-communicative domain symptoms. Males had significantly more repetitive behaviours/restricted interests than females (p = 0.001, d = 0.3). A multivariate analysis of variance indicated a significant interaction between autism spectrum disorder subtype (full-autism spectrum disorder/partial-autism spectrum disorder) and sex: in full-autism spectrum disorder, males had more severe socio-communicative symptoms than females; for partial-autism spectrum disorder, the reverse was true. There were no sex differences in prevalence of co-morbid psychopathologies. Sex influenced diagnostic evaluation in a clinical sample of adults with suspected autism spectrum disorder. The sexes may present with different manifestations of the autism spectrum disorder phenotype and differences vary by diagnostic subtype. Understanding and awareness of adult female repetitive behaviours/restricted interests warrant attention and sex-specific diagnostic assessment tools may need to be considered.

  5. Nonsuicidal self-injury disorder: The path to diagnostic validity and final obstacles.

    PubMed

    Selby, Edward A; Kranzler, Amy; Fehling, Kara B; Panza, Emily

    2015-06-01

    After decades of researchers calling for the creation of a self-injury syndrome, the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders listed Nonsuicidal Self-Injury (NSSI) disorder as a condition for further study. The purpose of this review is to provide information about the current status of research on NSSI disorder, current arguments for and against the disorder's creation, and areas that require further research. Specifically, we address the five biggest obstacles to validation: the need for clear delimitation from other psychiatric disorders as well as suicidal behavior, the need to fully explore the developmental course of the disorder, empirically establishing the most appropriate diagnostic criteria, and the potential clinical utility of creating a new disorder. With further research in these key areas, we expect that there will soon be enough evidence for the validity of NSSI disorder to warrant its inclusion in a future edition of the DSM.

  6. Gene-Tailored Treatments for Brain Disorders: Challenges and Opportunities.

    PubMed

    Esposito, Giovanni; Burgunder, Jean Marc; Dunlop, John; Gorwood, Philip; Inamdar, Amir; Pfister, Stefan M; Pochet, Roland; van den Bent, Martin J; Van Hoylandt, Nancy; Weller, Michael; Westphal, Manfred; Wick, Wolfgang; Nutt, David

    2016-01-01

    Brain disorders pose major challenges to medicine and treatment innovation. This is because their spectrum spans inflammatory, degenerative, traumatic/ischaemic, and neoplastic disease processes with a complex and often ill- understood aetiology. An improved genetic and genomic understanding of specific disease pathways offers new approaches to these challenges, but at present it is in its infancy. Here, we review different aspects of the challenges facing neuromedicine, give examples of where there are advances, and highlight challenges to be overcome. We see that some disorders such as Huntington's disease are the product of single gene mutations, whose discovery has been leading to the development of new targeted interventions. In the field of neurosurgery, the identification of a number of mutations allows an elaborated genetic analysis of brain tumours and opens the door to individualised therapies. Psychiatric disorders remain the area where progress is slow. Genetic analyses show that for major common disorders such as schizophrenia and depression there are no single gene alterations which offer options for targeted therapy development. However, new approaches are being developed to leverage genetic information to predict patients' responses to treatment. These recent developments hold promise for early diagnosis, follow-up with personalised treatments with adjusted therapeutic doses, predictable responses, reduced adverse drug reactions, and personal health planning. The scenario is promising but calls for increased support for curiosity-driven research into the mechanisms of normal brain functioning as well as challenging adaptations of health care and research infrastructures, encompassing legal frameworks for analysing large amounts of personal data, a flexible regulatory framework for correlating big data analyses in cooperative networks between academia and the drug development industry, and finally new strategies for brain banking in order to increase

  7. Gene-Tailored Treatments for Brain Disorders: Challenges and Opportunities.

    PubMed

    Esposito, Giovanni; Burgunder, Jean Marc; Dunlop, John; Gorwood, Philip; Inamdar, Amir; Pfister, Stefan M; Pochet, Roland; van den Bent, Martin J; Van Hoylandt, Nancy; Weller, Michael; Westphal, Manfred; Wick, Wolfgang; Nutt, David

    2016-01-01

    Brain disorders pose major challenges to medicine and treatment innovation. This is because their spectrum spans inflammatory, degenerative, traumatic/ischaemic, and neoplastic disease processes with a complex and often ill- understood aetiology. An improved genetic and genomic understanding of specific disease pathways offers new approaches to these challenges, but at present it is in its infancy. Here, we review different aspects of the challenges facing neuromedicine, give examples of where there are advances, and highlight challenges to be overcome. We see that some disorders such as Huntington's disease are the product of single gene mutations, whose discovery has been leading to the development of new targeted interventions. In the field of neurosurgery, the identification of a number of mutations allows an elaborated genetic analysis of brain tumours and opens the door to individualised therapies. Psychiatric disorders remain the area where progress is slow. Genetic analyses show that for major common disorders such as schizophrenia and depression there are no single gene alterations which offer options for targeted therapy development. However, new approaches are being developed to leverage genetic information to predict patients' responses to treatment. These recent developments hold promise for early diagnosis, follow-up with personalised treatments with adjusted therapeutic doses, predictable responses, reduced adverse drug reactions, and personal health planning. The scenario is promising but calls for increased support for curiosity-driven research into the mechanisms of normal brain functioning as well as challenging adaptations of health care and research infrastructures, encompassing legal frameworks for analysing large amounts of personal data, a flexible regulatory framework for correlating big data analyses in cooperative networks between academia and the drug development industry, and finally new strategies for brain banking in order to increase

  8. Septic arthritis secondary to rat bite fever: a challenging diagnostic course.

    PubMed

    Budair, Basil; Goswami, Karan; Dhukaram, Vivek

    2014-01-01

    We describe a challenging diagnostic course of a case of septic arthritis secondary to rat bite fever (Streptobacillus moniliformis) in a 29-year-old man who presented with generalised malaise, polyarthralgia and bilateral palmoplantar rash.

  9. Advances in addressing technical challenges of point-of-care diagnostics in resource-limited settings

    PubMed Central

    Wang, ShuQi; Lifson, Mark A.; Inci, Fatih; Liang, Li-Guo; Sheng, Ye-Feng; Demirci, Utkan

    2016-01-01

    The striking prevalence of HIV, TB and malaria, as well as outbreaks of emerging infectious diseases, such as influenza A (H7N9), Ebola and MERS, poses great challenges for patient care in resource-limited settings (RLS). However, advanced diagnostic technologies cannot be implemented in RLS largely due to economic constraints. Simple and inexpensive point-of-care (POC) diagnostics, which rely less on environmental context and operator training, have thus been extensively studied to achieve early diagnosis and treatment monitoring in non-laboratory settings. Despite great input from material science, biomedical engineering and nanotechnology for developing POC diagnostics, significant technical challenges are yet to be overcome. Summarized here are the technical challenges associated with POC diagnostics from a RLS perspective and the latest advances in addressing these challenges are reviewed. PMID:26777725

  10. Diagnostic boundaries of autism disorder vs pervasive developmental disorder nos comparative observational study and literature review.

    PubMed

    Carigi, Tiziana; Muratori, Filippo; Termine, Cristiano; Veggiotti, Pierangelo; Derhemi, Ledhina; Di Nardo, Roberta; Rossi, Giorgio; Balottin, Umberto

    2014-01-01

    Diagnosis of pervasive developmental disorders (PDDs), and above all diagnosis of the different PDD subtypes, is an ongoing challenge in psychopathology. Application of categorical criteria is complex and problematic in the clinical field where the boundaries dividing some of the PDD entities are blurred, creating particular problems for the clinician. A dimensional clinical approach, considering autistic symptom severity, level of functioning, developmental characteristics and symptoms other than the ones typically observed in autism, may be a more suitable approach in the clinical field and could provide the clinician treating these disorders with empirical guidance. To identify the clinical features that might differentiate the PDD subtypes, we conducted a comparative study in a clinical sample of children affected by autism disorder (AD) or pervasive developmental disorders not otherwise specified (PDD-NOS) and a mini critical review of the available literature addressing clinical and psychopathological differences between the two subtypes. The results of both our study and our literature review seem to show little support for the current PDD subtypes. In such a framework, the most significant element in clinical practice appears to be a deep knowledge of the characteristics of the individual in question. By adopting a broad and multi-faceted perspective, it becomes possible to define the most effective rehabilitation treatment. This applies particularly to the pharmacological treatment, since, to date, no specific therapies for PDDs are known and the choice of pharmacotherapy can be decided only on the basis of the patient's general profile and specific features.

  11. The health preoccupation diagnostic interview: inter-rater reliability of a structured interview for diagnostic assessment of DSM-5 somatic symptom disorder and illness anxiety disorder.

    PubMed

    Axelsson, Erland; Andersson, Erik; Ljótsson, Brjánn; Wallhed Finn, Daniel; Hedman, Erik

    2016-06-01

    Somatic symptom disorder (SSD) and illness anxiety disorder (IAD) are two new diagnoses introduced in the DSM-5. There is a need for reliable instruments to facilitate the assessment of these disorders. We therefore developed a structured diagnostic interview, the Health Preoccupation Diagnostic Interview (HPDI), which we hypothesized would reliably differentiate between SSD, IAD, and no diagnosis. Persons with clinically significant health anxiety (n = 52) and healthy controls (n = 52) were interviewed using the HPDI. Diagnoses were then compared with those made by an independent assessor, who listened to audio recordings of the interviews. Ratings generally indicated moderate to almost perfect inter-rater agreement, as illustrated by an overall Cohen's κ of .85. Disagreements primarily concerned (a) the severity of somatic symptoms, (b) the differential diagnosis of panic disorder, and (c) SSD specifiers. We conclude that the HPDI can be used to reliably diagnose DSM-5 SSD and IAD. PMID:27096407

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

    PubMed

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

    2016-05-01

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

  13. Functional hypothalamic amenorrhoea — diagnostic challenges, monitoring, and treatment.

    PubMed

    Sowińska-Przepiera, Elżbieta; Andrysiak-Mamos, Elżbieta; Jarząbek-Bielecka, Grażyna; Walkowiak, Aleksandra; Osowicz-Korolonek, Lilianna; Syrenicz, Małgorzata; Kędzia, Witold; Syrenicz, Anhelli

    2015-01-01

    Functional hypothalamic amenorrhoea (FHA) is associated with functional inhibition of the hypothalamic-pituitary-ovarian axis. Causes of FHA can be classified into the three groups: 1) stress-related factors, 2) consequences of weight loss and/or underweight, and 3) consequences of physical exercise or practicing sports. Diagnosis of FHA should be based on a history of menstrual disorders. During physical examination, patients with FHA present with secondary and tertiary sex characteristics specific for the pubertal stage preceding development of the condition and with the signs of hypoestrogenism. Laboratory results determine further management of patients with amenorrhea, and thus their correct interpretation is vital for making appropriate therapeutic decisions. Treatment of chronic anovulation, menstrual disorders, and secondary amenorrhea resulting from hypothalamic disorders should be aimed at the elimination of the primary cause, i.e. a decrease in psycho-emotional strain, avoidance of chronic stressors, reduction of physical exercise level, or optimisation of BMI in patients who lose weight. If menses do not resume after a period of six months or primary causative treatment is not possible, neutralisation of hypoestrogenism consequences, especially unfavourable effects on bone metabolism, become the main issue. Previous studies have shown that oestroprogestagen therapy is useful in both the treatment of menstrual disorders and normalisation of bone mineral density. Hormonal preparations should be introduced into therapeutic protocol on an individualised basis. PMID:26136135

  14. Diagnostic features, prevalence, and impact of bipolar disorder.

    PubMed

    Ketter, Terrence A

    2010-06-01

    Bipolar disorder shares depressive symptoms with unipolar major depressive disorder but is defined by episodes of mania or hypomania. Bipolar disorder in its broadest sense has a community lifetime prevalence of 4% and is a severely impairing illness that impacts several aspects of patients' lives. Race, ethnicity, and gender have no effect on prevalence rates, but women are more likely to experience rapid cycling, mixed states, depressive episodes, and bipolar II disorder than men. Patients with bipolar disorder have high rates of disability and higher rates of mortality than individuals without bipolar disorder. Natural causes such as cardiovascular disease and diabetes, as well as suicide and other "unnatural" causes are key contributors to the high mortality rate. The costs associated with bipolar disorder include not only the direct costs of treatment, but also the much greater indirect costs of decreased productivity, excess unemployment, and excess mortality. PMID:20573324

  15. Diagnosing Autism Spectrum Disorders in Adults: The Use of Autism Diagnostic Observation Schedule (ADOS) Module 4

    ERIC Educational Resources Information Center

    Bastiaansen, Jojanneke A.; Meffert, Harma; Hein, Simone; Huizinga, Petra; Ketelaars, Cees; Pijnenborg, Marieke; Bartels, Arnold; Minderaa, Ruud; Keysers, Christian; de Bildt, Annelies

    2011-01-01

    Autism Diagnostic Observation Schedule (ADOS) module 4 was investigated in an independent sample of high-functioning adult males with an autism spectrum disorder (ASD) compared to three specific diagnostic groups: schizophrenia, psychopathy, and typical development. ADOS module 4 proves to be a reliable instrument with good predictive value. It…

  16. [Congenital anomalies of coronary artery origin: a diagnostic challenge].

    PubMed

    Iñiguez Romo, A; Macaya Miquel, C; Alfonso Monterola, F; San Román Calvar, J A; Goikolea Ruiz-Gómez, J; Zarco Gutiérrez, P

    1991-03-01

    From a series of 4,313 consecutive patients who underwent a diagnostic coronary angiogram, 16 (0.37%) presented a congenital anomalous origin of the coronary arteries. None of these patients had other congenital cardiac anomalies associated. Age was 57 +/- 9 years and 13 (81%) were male. The diagnostic catheterization was performed for unstable angina in 8 patients (50%), for stable angina in five (32%), for dyspnea in two and for atypical chest pain in the remaining patient. A previous myocardial infarction was present in 6 patients (37%) whereas one patient had apical hypertrophic cardiomyopathy. We observed absence of coronary lesions in 4 patients and severe coronary stenosis lesions in 12 patients (75%), five of those with lesions located in the anomalous vessel. The most frequent abnormality found was an anomalous origin of left circumflex coronary artery in 8 cases (50%), followed by an abnormal origin of the right coronary artery in 5 cases (31%), and an abnormal origin of the left coronary tree in 3 cases (19%) (left anterior descending coronary artery arising from the right coronary artery, a single coronary artery which originated in the left coronary sinus, and a left main coronary artery which originated in the noncoronary sinus). The relationship of the anomalous coronary artery to the great vessels was the following: A retro-aortic course in 11 patient (69%), by the anterior free wall in two (12.5%), interarterial in two (12.5%), and septal in one (6%). Finally, as an index of the difficulty to visualize the anomalous coronary artery, an unusual catheter was needed in six (37%) of the diagnostic procedures to reach the target vessel.(ABSTRACT TRUNCATED AT 250 WORDS)

  17. Allergy to furry animals: New insights, diagnostic approaches, and challenges.

    PubMed

    Konradsen, Jon R; Fujisawa, Takao; van Hage, Marianne; Hedlin, Gunilla; Hilger, Christiane; Kleine-Tebbe, Jörg; Matsui, Elizabeth C; Roberts, Graham; Rönmark, Eva; Platts-Mills, Thomas A E

    2015-03-01

    The prevalence of allergy to furry animals has been increasing, and allergy to cats, dogs, or both is considered a major risk factor for the development of asthma and rhinitis. An important step forward in the diagnosis of allergy to furry animals has been made with the introduction of molecular-based allergy diagnostics. A workshop on furry animals was convened to provide an up-to-date assessment of our understanding of (1) the exposure and immune response to the major mammalian allergens, (2) the relationship of these responses (particularly those to specific proteins or components) to symptoms, and (3) the relevance of these specific antibody responses to current or future investigation of patients presenting with allergic diseases. In this review research results discussed at the workshop are presented, including the effect of concomitant exposures from other allergens or microorganisms, the significance of the community prevalence of furry animals, molecular-based allergy diagnostics, and a detailed discussion of cat and dog components.

  18. Social Communication Disorder outside Autism? A Diagnostic Classification Approach to Delineating Pragmatic Language Impairment, High Functioning Autism and Specific Language Impairment

    ERIC Educational Resources Information Center

    Gibson, Jenny; Adams, Catherine; Lockton, Elaine; Green, Jonathan

    2013-01-01

    Background: Developmental disorders of language and communication present considerable diagnostic challenges due to overlapping of symptomatology and uncertain aetiology. We aimed to further elucidate the behavioural and linguistic profile associated with impairments of social communication occurring outside of an autism diagnosis. Methods: Six to…

  19. Baldness : A Diagnostic Physical Trait In Mood Disorders - Sarvada Sign

    PubMed Central

    Tiwari, S.C.; Singh, Sarvesh

    2004-01-01

    Physical traits and features, i.e., body build, colour of eye etc. are often utilized in making diagnosis of psychiatric and physical disorders. A study was carried out to investigate the relationship between baldness and mood disorders on psychiatric out patients, Department of Psychiatry, King George's Medical University, Lucknow, and their available first degree relatives. In this study, 371 psychiatric patients and their first degree relatives were assessed and evaluated. 56.6% male bald patients were found to be suffering from mood disorders. In comparison to male patients of other psychiatric disorders, the relationship between baldness and mood disorders was found to be statistically significant (P< 0.001). Though higher percentage of female patients with mood disorders (10.9%) were observed to have baldness in comparison to a single patient with other psychiatric disorder (1.1%), the studied sample of bald female patients was too small to provide meaningful leads. When baldness was studied in selected group of first degree relatives of the index male patients, baldness was observed to be significantly more common in the first degree relatives of mood disorder patients than the first degree relatives of other psychiatric disorder patients. Baldness is being designated as “Sarvada Sign”. PMID:21206793

  20. Bipolar disorder and ADHD: comorbidity and diagnostic distinctions.

    PubMed

    Marangoni, Ciro; De Chiara, Lavinia; Faedda, Gianni L

    2015-08-01

    Attention-deficit/hyperactivity disorder (ADHD) and bipolar disorder (BD) are neurodevelopmental disorders with onset in childhood and early adolescence, and common persistence in adulthood. Both disorders are often undiagnosed, misdiagnosed, and sometimes over diagnosed, leading to high rates of morbidity and disability. The differentiation of these conditions is based on their clinical features, comorbidity, psychiatric family history course of illness, and response to treatment. We review recent relevant findings and highlight epidemiological, clinical, family history, course, and treatment-response differences that can aid the differential diagnosis of these conditions in an outpatient pediatric setting. PMID:26084666

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

    PubMed

    Sahai, Shashi; Adams, Matthew; Kamat, Deepak

    2016-06-01

    Autoimmune disorders are not commonly encountered in a general pediatric practice, but they may mimic many other disorders. Although they occur infrequently, it is always important to pause and consider an autoimmune disorder in the differential diagnosis. A detailed history and careful physical examination play an important role in guiding laboratory evaluation for these disorders. Many autoimmune disorders present with symptoms that involve multiple organ systems. The common symptoms that may make one consider a rheumatic disorder in the differential diagnosis are fever, fatigue, joint pain, rash, ulcers, and muscle weakness. The most common reason for referral to a pediatric rheumatologist is joint pain. A good joint examination may be performed by the use of the pediatric Gait, Arms, Legs, Spine screen, which is a validated screening tool. A small portion of children with fever of unknown origin may have an autoimmune disorder, with a majority of them having an infectious disease. Some patients with undiagnosed rheumatic disorders may present to the emergency. department. The characteristics of historic and clinical examination features of various autoimmune disorders are discussed in this article. [Pediatr Ann. 2016;45(6):e223-e229.]. PMID:27294498

  2. [Trauma and stressor-related disorders: diagnostic conceptualization in DSM-5].

    PubMed

    Kapfhammer, H P

    2014-05-01

    The Diagnostic and Statistical Manual of Mental Disorders 5 (DSM-5) includes a distinct diagnostic group of trauma and stressor-related disorders that has been set apart from anxiety disorders. From a perspective of adult psychiatry this new disorder category includes posttraumatic stress disorder (PTSD), acute stress disorder (ASD), and adjustment disorders. The PTSD is based on narrower trauma criteria that focus on acute life-threatening situations, serious injury, or sexual violence by way of direct confrontation, witnessing or indirect confrontation. Indirect confrontation, however, is reserved only for violent or accidental events that occurred to close family members or friends. The former A2 criterion of an intense emotional reaction to trauma has been removed. A deliberately broad approach to clinical PTSD phenomenology has created an empirically driven new cluster of persistent negative alterations in cognition and mood due to experiencing traumatic events. The ASD has been reconceptualized as an intense stress syndrome with a clear need of acute treatment during the early course after traumatic exposure. Adjustment disorders continue to emphasize maladaptive emotional and behavioral responses to unspecific, non-traumatic stressors in an intensity that is beyond social or cultural norms. Neither complex PTSD nor prolonged grief disorders have received an independent diagnostic status within DSM-5. With respect to stress-related disorders major divergences between DSM-5 and the future International Classification of Diseases 11 (ICD-11) are to be expected.

  3. Does Sex Influence the Diagnostic Evaluation of Autism Spectrum Disorder in Adults?

    ERIC Educational Resources Information Center

    Wilson, C. Ellie; Murphy, Clodagh M.; McAlonan, Grainne; Robertson, Dene M.; Spain, Debbie; Hayward, Hannah; Woodhouse, Emma; Deeley, P. Quinton; Gillan, Nicola; Ohlsen, J. Chris; Zinkstok, Janneke; Stoencheva, Vladimira; Faulkner, Jessica; Yildiran, Hatice; Bell, Vaughan; Hammond, Neil; Craig, Michael C.; Murphy, Declan G. M.

    2016-01-01

    It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1,244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more…

  4. Sensitivity and Specificity of Proposed "DSM-5" Diagnostic Criteria for Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    McPartland, James C.; Reichow, Brian; Volkmar, Fred R.

    2012-01-01

    Objective: This study evaluated the potential impact of proposed "DSM-5" diagnostic criteria for autism spectrum disorder (ASD). Method: The study focused on a sample of 933 participants evaluated during the "DSM-IV" field trial; 657 carried a clinical diagnosis of an ASD, and 276 were diagnosed with a non-autistic disorder. Sensitivity and…

  5. Binge Eating Disorder: Reliability and Validity of a New Diagnostic Category.

    ERIC Educational Resources Information Center

    Brody, Michelle L.; And Others

    1994-01-01

    Examined reliability and validity of binge eating disorder (BED), proposed for inclusion in Diagnostic and Statistical Manual of Mental Disorders (DSM), fourth edition. Interrater reliability of BED diagnosis compared favorably with that of most diagnoses in DSM revised third edition. Study comparing obese individuals with and without BED and…

  6. Diagnostic categories or dimensions? A question for the Diagnostic And Statistical Manual Of Mental Disorders--fifth edition.

    PubMed

    Widiger, Thomas A; Samuel, Douglas B

    2005-11-01

    The question of whether mental disorders are discrete clinical conditions or arbitrary distinctions along dimensions of functioning is a long-standing issue, but its importance is escalating with the growing recognition of the frustrations and limitations engendered by the categorical model. The authors provide an overview of some of the dilemmas of the categorical model, followed by a discussion of research that addresses whether mental disorders are accurately or optimally classified categorically or dimensionally. The authors' intention is to document the importance of this issue and to suggest that future editions of the Diagnostic and Statistical Manual of Mental Disorders give more recognition to dimensional models of classification. They conclude with a dimensional mental disorder classification that they suggest provides a useful model.

  7. Neoplastic zebras of venous thrombosis: Diagnostic challenges in vascular medicine.

    PubMed

    Cornejo, A; Lekah, A; Kurklinsky, A K

    2015-12-01

    Venous thrombosis is a common medical problem. Imaging differentiation of neoplasms and venous clots may prove challenging. We report three cases of "mistaken identities" of venous thrombi and neoplasms on the basis of clinical findings and different imaging modalities: ultrasound, computed tomography, and magnetic resonance imaging. Imaging studies are not always reliable and consideration of clinical features, including pretest probability, is necessary for correct diagnosis. A combination of imaging modalities and biopsies is needed for correct diagnosis in some cases.

  8. Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

    PubMed Central

    Nava, Caroline; Keren, Boris; Mignot, Cyril; Rastetter, Agnès; Chantot-Bastaraud, Sandra; Faudet, Anne; Fonteneau, Eric; Amiet, Claire; Laurent, Claudine; Jacquette, Aurélia; Whalen, Sandra; Afenjar, Alexandra; Périsse, Didier; Doummar, Diane; Dorison, Nathalie; Leboyer, Marion; Siffroi, Jean-Pierre; Cohen, David; Brice, Alexis; Héron, Delphine; Depienne, Christel

    2014-01-01

    Copy number variants (CNVs) have repeatedly been found to cause or predispose to autism spectrum disorders (ASDs). For diagnostic purposes, we screened 194 individuals with ASDs for CNVs using Illumina SNP arrays. In several probands, we also analyzed candidate genes located in inherited deletions to unmask autosomal recessive variants. Three CNVs, a de novo triplication of chromosome 15q11–q12 of paternal origin, a deletion on chromosome 9p24 and a de novo 3q29 deletion, were identified as the cause of the disorder in one individual each. An autosomal recessive cause was considered possible in two patients: a homozygous 1p31.1 deletion encompassing PTGER3 and a deletion of the entire DOCK10 gene associated with a rare hemizygous missense variant. We also identified multiple private or recurrent CNVs, the majority of which were inherited from asymptomatic parents. Although highly penetrant CNVs or variants inherited in an autosomal recessive manner were detected in rare cases, our results mainly support the hypothesis that most CNVs contribute to ASDs in association with other CNVs or point variants located elsewhere in the genome. Identification of these genetic interactions in individuals with ASDs constitutes a formidable challenge. PMID:23632794

  9. Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

    PubMed

    Nava, Caroline; Keren, Boris; Mignot, Cyril; Rastetter, Agnès; Chantot-Bastaraud, Sandra; Faudet, Anne; Fonteneau, Eric; Amiet, Claire; Laurent, Claudine; Jacquette, Aurélia; Whalen, Sandra; Afenjar, Alexandra; Périsse, Didier; Doummar, Diane; Dorison, Nathalie; Leboyer, Marion; Siffroi, Jean-Pierre; Cohen, David; Brice, Alexis; Héron, Delphine; Depienne, Christel

    2014-01-01

    Copy number variants (CNVs) have repeatedly been found to cause or predispose to autism spectrum disorders (ASDs). For diagnostic purposes, we screened 194 individuals with ASDs for CNVs using Illumina SNP arrays. In several probands, we also analyzed candidate genes located in inherited deletions to unmask autosomal recessive variants. Three CNVs, a de novo triplication of chromosome 15q11-q12 of paternal origin, a deletion on chromosome 9p24 and a de novo 3q29 deletion, were identified as the cause of the disorder in one individual each. An autosomal recessive cause was considered possible in two patients: a homozygous 1p31.1 deletion encompassing PTGER3 and a deletion of the entire DOCK10 gene associated with a rare hemizygous missense variant. We also identified multiple private or recurrent CNVs, the majority of which were inherited from asymptomatic parents. Although highly penetrant CNVs or variants inherited in an autosomal recessive manner were detected in rare cases, our results mainly support the hypothesis that most CNVs contribute to ASDs in association with other CNVs or point variants located elsewhere in the genome. Identification of these genetic interactions in individuals with ASDs constitutes a formidable challenge. PMID:23632794

  10. Perceptions of social challenges of adults with autism spectrum disorder.

    PubMed

    Sperry, Laurie A; Mesibov, Gary B

    2005-10-01

    This study examines perceptions of social challenges by adults with autism spectrum disorder (ASD). The investigators analyzed three separate, regularly scheduled social group meetings attended by a total of 18 adults with ASD where the activity was a discussion of social issues. Participants generated social questions and challenges they had encountered as a result of having autism. The questions were presented to the group for a discussion of potential solutions. Written and audio data were collected and a member check was completed. The data were plumbed for key words and emergent themes to identify major social challenges as viewed by adults with ASD. The emergent themes included relationships at work, developing and maintaining personal relationships, appropriate behaviors around members of the opposite sex, and personal perspectives on having ASD.

  11. The challenges of treating developmental trauma disorder in a residential agency for youth.

    PubMed

    Levin, Edmund C

    2009-01-01

    In recent years the task of psychiatrists serving youth in residential programs has largely shifted to rendering diagnostic evaluations and prescribing medications. Children in residential facilities are often misdiagnosed and treated with high doses of multiple medications drawn from several different classes of psychopharmaceuticals. The more accurate diagnosis for many of these children, Developmental Trauma Disorder (DTD), reconceptualizes the treatment approach and leads to substantial clinical benefit. Initiating treatment through application of milieu and dynamic psychotherapy and the tapering of medication very likely will encounter the challenges of staff resistance and the modification of the residence's institutional culture. The number of children receiving medication, the amount and number of medications used, and the number of aggressive incident reports fell dramatically over a 2-year period. Regarding mood and conduct disorders as manifestations of past trauma, rather than as biochemical imbalances, is the dominant focus of an analytically-informed treatment of DTD. PMID:19764849

  12. [Neurocognitive disorders in DSM-5: pervasive changes in the diagnostics of dementia].

    PubMed

    Maier, W; Barnikol, U B

    2014-05-01

    The Diagnostic and Statistical Manual of Mental Disorders (DSM-5) proposes an innovative chapter on neurocognitive disorders (NCD) as a substitute for the dementia, delirium and amnestic disorders chapter in DSM-IV. This NCD chapter promotes a most innovative change compared to DSM-IV. While the term delirium is preserved, the commonly used term dementia does not occur as a diagnostic entity. Neurocognitive disorders are more inclusive than dementias; they also cover early prodromal stages of dementias below the DSM-IV threshold. The diagnosis of NCDs requires essentially neuropsychological testing preferentially with standardized instruments. Special focus is given to etiological subtyping taking former diagnostic consensus processes by expert groups into consideration. The subsequent more extensive concept of NCD also allows the diagnosis of etiological-specific prodromal states of cognitive impairments. The changes from DSM-IV to DSM-5 are critically discussed.

  13. Developmental trauma disorder: pros and cons of including formal criteria in the psychiatric diagnostic systems

    PubMed Central

    2013-01-01

    Background This article reviews the current debate on developmental trauma disorder (DTD) with respect to formalizing its diagnostic criteria. Victims of abuse, neglect, and maltreatment in childhood often develop a wide range of age-dependent psychopathologies with various mental comorbidities. The supporters of a formal DTD diagnosis argue that post-traumatic stress disorder (PTSD) does not cover all consequences of severe and complex traumatization in childhood. Discussion Traumatized individuals are difficult to treat, but clinical experience has shown that they tend to benefit from specific trauma therapy. A main argument against inclusion of formal DTD criteria into existing diagnostic systems is that emphasis on the etiology of the disorder might force current diagnostic systems to deviate from their purely descriptive nature. Furthermore, comorbidities and biological aspects of the disorder may be underdiagnosed using the DTD criteria. Summary Here, we discuss arguments for and against the proposal of DTD criteria and address implications and consequences for the clinical practice. PMID:23286319

  14. Mining balance disorders' data for the development of diagnostic decision support systems.

    PubMed

    Exarchos, T P; Rigas, G; Bibas, A; Kikidis, D; Nikitas, C; Wuyts, F L; Ihtijarevic, B; Maes, L; Cenciarini, M; Maurer, C; Macdonald, N; Bamiou, D-E; Luxon, L; Prasinos, M; Spanoudakis, G; Koutsouris, D D; Fotiadis, D I

    2016-10-01

    In this work we present the methodology for the development of the EMBalance diagnostic Decision Support System (DSS) for balance disorders. Medical data from patients with balance disorders have been analysed using data mining techniques for the development of the diagnostic DSS. The proposed methodology uses various data, ranging from demographic characteristics to clinical examination, auditory and vestibular tests, in order to provide an accurate diagnosis. The system aims to provide decision support for general practitioners (GPs) and experts in the diagnosis of balance disorders as well as to provide recommendations for the appropriate information and data to be requested at each step of the diagnostic process. Detailed results are provided for the diagnosis of 12 balance disorders, both for GPs and experts. Overall, the reported accuracy ranges from 59.3 to 89.8% for GPs and from 74.3 to 92.1% for experts.

  15. Mining balance disorders' data for the development of diagnostic decision support systems.

    PubMed

    Exarchos, T P; Rigas, G; Bibas, A; Kikidis, D; Nikitas, C; Wuyts, F L; Ihtijarevic, B; Maes, L; Cenciarini, M; Maurer, C; Macdonald, N; Bamiou, D-E; Luxon, L; Prasinos, M; Spanoudakis, G; Koutsouris, D D; Fotiadis, D I

    2016-10-01

    In this work we present the methodology for the development of the EMBalance diagnostic Decision Support System (DSS) for balance disorders. Medical data from patients with balance disorders have been analysed using data mining techniques for the development of the diagnostic DSS. The proposed methodology uses various data, ranging from demographic characteristics to clinical examination, auditory and vestibular tests, in order to provide an accurate diagnosis. The system aims to provide decision support for general practitioners (GPs) and experts in the diagnosis of balance disorders as well as to provide recommendations for the appropriate information and data to be requested at each step of the diagnostic process. Detailed results are provided for the diagnosis of 12 balance disorders, both for GPs and experts. Overall, the reported accuracy ranges from 59.3 to 89.8% for GPs and from 74.3 to 92.1% for experts. PMID:27619194

  16. Confluent and reticulated papillomatosis: diagnostic and treatment challenges

    PubMed Central

    Lim, Joel Hua-Liang; Tey, Hong Liang; Chong, Wei-Sheng

    2016-01-01

    Confluent and reticulated papillomatosis (CRP) of Gougerot and Carteaud was first typified in 1927. With the help of electron microscopy, it has been elucidated that CRP arises due to aberrant keratinization. However, till date, there is no clear consensus on the etiologic trigger for CRP. Prevailing postulates include a bacterial trigger by Dietzia papillomatosis (type strain N 1280T), an exaggerated cutaneous response to Malassezia furfur, an endocrine basis stemming from insulin resistance, ultraviolet light-induced epidermal change, amyloid deposition, and a loss-of-function mutation in keratin 16. CRP typically presents as asymptomatic hyperpigmented papules and plaques with peripheral reticulation over the nape, axillae, upper chest, and upper back, occasionally with extension superior to the forehead and inferior to the pubic region. Dermoscopy may be used in the evaluation of CRP, but its diagnosis is made on clinical grounds given its nonspecific histopathological findings. Although successful treatment with topical keratolytics, retinoids, or antifungals has been reported, antibiotics, such as minocycline, at anti-inflammatory doses have emerged as a preferred therapeutic option. In this article, we review the diagnostic considerations in CRP and its therapeutic options. PMID:27601929

  17. Confluent and reticulated papillomatosis: diagnostic and treatment challenges.

    PubMed

    Lim, Joel Hua-Liang; Tey, Hong Liang; Chong, Wei-Sheng

    2016-01-01

    Confluent and reticulated papillomatosis (CRP) of Gougerot and Carteaud was first typified in 1927. With the help of electron microscopy, it has been elucidated that CRP arises due to aberrant keratinization. However, till date, there is no clear consensus on the etiologic trigger for CRP. Prevailing postulates include a bacterial trigger by Dietzia papillomatosis (type strain N 1280(T)), an exaggerated cutaneous response to Malassezia furfur, an endocrine basis stemming from insulin resistance, ultraviolet light-induced epidermal change, amyloid deposition, and a loss-of-function mutation in keratin 16. CRP typically presents as asymptomatic hyperpigmented papules and plaques with peripheral reticulation over the nape, axillae, upper chest, and upper back, occasionally with extension superior to the forehead and inferior to the pubic region. Dermoscopy may be used in the evaluation of CRP, but its diagnosis is made on clinical grounds given its nonspecific histopathological findings. Although successful treatment with topical keratolytics, retinoids, or antifungals has been reported, antibiotics, such as minocycline, at anti-inflammatory doses have emerged as a preferred therapeutic option. In this article, we review the diagnostic considerations in CRP and its therapeutic options. PMID:27601929

  18. Confluent and reticulated papillomatosis: diagnostic and treatment challenges

    PubMed Central

    Lim, Joel Hua-Liang; Tey, Hong Liang; Chong, Wei-Sheng

    2016-01-01

    Confluent and reticulated papillomatosis (CRP) of Gougerot and Carteaud was first typified in 1927. With the help of electron microscopy, it has been elucidated that CRP arises due to aberrant keratinization. However, till date, there is no clear consensus on the etiologic trigger for CRP. Prevailing postulates include a bacterial trigger by Dietzia papillomatosis (type strain N 1280T), an exaggerated cutaneous response to Malassezia furfur, an endocrine basis stemming from insulin resistance, ultraviolet light-induced epidermal change, amyloid deposition, and a loss-of-function mutation in keratin 16. CRP typically presents as asymptomatic hyperpigmented papules and plaques with peripheral reticulation over the nape, axillae, upper chest, and upper back, occasionally with extension superior to the forehead and inferior to the pubic region. Dermoscopy may be used in the evaluation of CRP, but its diagnosis is made on clinical grounds given its nonspecific histopathological findings. Although successful treatment with topical keratolytics, retinoids, or antifungals has been reported, antibiotics, such as minocycline, at anti-inflammatory doses have emerged as a preferred therapeutic option. In this article, we review the diagnostic considerations in CRP and its therapeutic options.

  19. Diagnostic challenges in aspiration cytology of the salivary glands.

    PubMed

    Schindler, S; Nayar, R; Dutra, J; Bedrossian, C W

    2001-05-01

    The main goal of fine-needle aspiration (FNA) of salivary gland lesions is to assist the clinician in the management of patients who present with a mass lesion. Cytologic examination aims to determine, if a process is inflammatory and/or reactive, benign or malignant neoplasm and if possible renders a specific diagnosis. It has been argued that in the area of salivary gland tumors, surgical management relies less heavily on a specific preoperative diagnosis, because almost all neoplastic salivary gland lesions will undergo surgical excision. However, knowing beforehand if a lesion is malignant or benign, will aid in planning surgery and may prompt or postpone decisions for surgical intervention. The salivary glands are unique in their histologic complexity and morphological variability of tumors, which is reflected in the cytologic material. In addition to the overlapping morphologic patterns of salivary gland tumors, they also represent relatively rare lesions, thus making it more difficult to acquire diagnostic expertise in FNA. Other than approaching salivary gland tumors by a description of single entities in their benign and malignant categories, we favor a more practical approach to diagnosis based on the key morphologic features noted in FNAs. This article addresses differential diagnoses according to the predominant cytologic presentation with attention to the cell type and size, nature of the cytoplasm, and the smear background.

  20. [Mental disorders in pregnancy and postpartum : Prevalence, course, and clinical diagnostics].

    PubMed

    Kühner, C

    2016-09-01

    The peripartum period represents a critical phase for the onset and course of mental disorders. During this phase, mental disorders occur as first onset or, more often, as recurrent or ongoing chronic conditions with onset and further course of illness in- or outside the peripartal period. No clear risk increase exists for the more prevalent mental disorders such as depressive and anxiety disorders during this period, whereas there is an increased risk for bipolar disorder. Peripartal mental disorders may impact fetal and child development through different mechanisms. The International Statistical Classification of Diseases and Related Health Problems (ICD-10) does not sufficiently take into account particularities of peripartal disorders with possible prognostic relevance. The present article gives an overview on prevalence, course, and clinical diagnostics and presents a proposal for consistent categorization of peripartal mental disorders. PMID:27456195

  1. The Autism Diagnostic Observation Schedule-toddler module: a new module of a standardized diagnostic measure for autism spectrum disorders.

    PubMed

    Luyster, Rhiannon; Gotham, Katherine; Guthrie, Whitney; Coffing, Mia; Petrak, Rachel; Pierce, Karen; Bishop, Somer; Esler, Amy; Hus, Vanessa; Oti, Rosalind; Richler, Jennifer; Risi, Susan; Lord, Catherine

    2009-09-01

    The Autism Diagnostic Observation Schedule (ADOS; Lord et al., J Autism Dev Disord, 30(3):205-223, 2000) is widely accepted as a "gold standard" diagnostic instrument, but it is of restricted utility with very young children. The purpose of the current project was to modify the ADOS for use in children under 30 months of age. A modified ADOS, the ADOS Toddler Module (or Module T), was used in 360 evaluations. Participants included 182 children with best estimate diagnoses of ASD, non-spectrum developmental delay or typical development. A final set of protocol and algorithm items was selected based on their ability to discriminate the diagnostic groups. The traditional algorithm "cutoffs" approach yielded high sensitivity and specificity, and a new range of concern approach was proposed.

  2. Autistic disorder in Nigeria: profile and challenges to management.

    PubMed

    Lagunju, I A; Bella-Awusah, T T; Omigbodun, O O

    2014-10-01

    Autism represents one of the most common developmental disorders affecting children, but there are few reports on autism in African children. Our study describes the profile of autistic disorder in a cohort of Nigerian children and appraises short-term outcomes. Children seen at the pediatric neurology and the child psychiatry clinic of the University College Hospital, Nigeria were screened for autistic disorder using the American Psychiatric Association's Diagnostic and Statistical Manual IV. Forty-five males and 9 females were identified with autism, and the disease accounted for 2.3% of 2320 new cases seen during the period. The mean age at which parents observed deviations in behavior was 22.5 (SD=6.6) months, while the mean age at diagnosis was 44.7 (SD=21.2) months. Twelve (22.6%) children had a positive family history of autism, and forty (75.5%) had associated neurological comorbidities. Diagnosis of autism is often delayed in Nigeria, and affected children have a high frequency of neurological comorbidities.

  3. New challenges for BRCA testing: a view from the diagnostic laboratory.

    PubMed

    Wallace, Andrew J

    2016-09-01

    Increased demand for BRCA testing is placing pressures on diagnostic laboratories to raise their mutation screening capacity and handle the challenges associated with classifying BRCA sequence variants for clinical significance, for example interpretation of pathogenic mutations or variants of unknown significance, accurate determination of large genomic rearrangements and detection of somatic mutations in DNA extracted from formalin-fixed, paraffin-embedded tumour samples. Many diagnostic laboratories are adopting next-generation sequencing (NGS) technology to increase their screening capacity and reduce processing time and unit costs. However, migration to NGS introduces complexities arising from choice of components of the BRCA testing workflow, such as NGS platform, enrichment method and bioinformatics analysis process. An efficient, cost-effective accurate mutation detection strategy and a standardised, systematic approach to the reporting of BRCA test results is imperative for diagnostic laboratories. This review covers the challenges of BRCA testing from the perspective of a diagnostics laboratory.

  4. New challenges for BRCA testing: a view from the diagnostic laboratory.

    PubMed

    Wallace, Andrew J

    2016-09-01

    Increased demand for BRCA testing is placing pressures on diagnostic laboratories to raise their mutation screening capacity and handle the challenges associated with classifying BRCA sequence variants for clinical significance, for example interpretation of pathogenic mutations or variants of unknown significance, accurate determination of large genomic rearrangements and detection of somatic mutations in DNA extracted from formalin-fixed, paraffin-embedded tumour samples. Many diagnostic laboratories are adopting next-generation sequencing (NGS) technology to increase their screening capacity and reduce processing time and unit costs. However, migration to NGS introduces complexities arising from choice of components of the BRCA testing workflow, such as NGS platform, enrichment method and bioinformatics analysis process. An efficient, cost-effective accurate mutation detection strategy and a standardised, systematic approach to the reporting of BRCA test results is imperative for diagnostic laboratories. This review covers the challenges of BRCA testing from the perspective of a diagnostics laboratory. PMID:27514839

  5. Simulators of Squamous Cell Carcinoma of the Skin: Diagnostic Challenges on Small Biopsies and Clinicopathological Correlation

    PubMed Central

    Tan, Kong-Bing; Tan, Sze-Hwa; Aw, Derrick Chen-Wee; Jaffar, Huma; Lim, Thiam-Chye; Lee, Shu-Jin; Lee, Yoke-Sun

    2013-01-01

    Squamous cell carcinoma (SCC) is a common and important primary cutaneous malignancy. On skin biopsies, SCC is characterized by significant squamous cell atypia, abnormal keratinization, and invasive features. Diagnostic challenges may occasionally arise, especially in the setting of small punch biopsies or superficial shave biopsies, where only part of the lesion may be assessable by the pathologist. Benign mimics of SCC include pseudoepitheliomatous hyperplasia, eccrine squamous syringometaplasia, inverted follicular keratosis, and keratoacanthoma, while malignant mimics of SCC include basal cell carcinoma, melanoma, and metastatic carcinoma. The careful application of time-honored diagnostic criteria, close clinicopathological correlation and a selective request for a further, deeper, or wider biopsy remain the most useful strategies to clinch the correct diagnosis. This review aims to present the key differential diagnoses of SCC, to discuss common diagnostic pitfalls, and to recommend ways to deal with diagnostically challenging cases. PMID:23878739

  6. [Climatic change and skin: diagnostic and therapeutic challenges].

    PubMed

    Llamas-Velasco, M; García-Díez, A

    2010-06-01

    Scientifics are warning us about a global warming tendency and diminished rainfalls. Quantity, causes and human activity influence remain controversial. Warming could increase prevalence of some cutaneous pathology. Sensible skin and skin xerosis would be more prevalent if relative humidity decreases. Alterations of skin barrier;s function would increase seriousness and prevalence of atopic dermatitis. Furthermore, the higher UVB proportion reaching Earth's surface, in conjunction with increased sunbathing population habits, will increase cutaneous cancer and photoaging rates without a correct photoprotection. Also, habitats of some infectious diseases; vectors are changing. The facing of these problems will be a real challenge for the dermatologist, who will have a very important role on prevention, diagnoses and early treatment of them.

  7. Pierre Robin sequence: review of diagnostic and treatment challenges.

    PubMed

    Côté, Aurore; Fanous, Amanda; Almajed, Athari; Lacroix, Yolène

    2015-04-01

    Pierre Robin sequence is not a rare condition and paediatric specialists caring for respiratory related issues are likely to encounter cases in their practice. There have been a few recent reviews on the topic, mostly focusing on the surgical interventions performed for cases with severe airway obstruction. In the present review, we will highlight the different challenges that remain today in the global evaluation of infants afflicted with this condition through a thorough review of the medical literature, giving the clinician a full scope of the disease and of the various management options. The need for an improved objective evaluation of airway obstruction and for a better classification will be emphasized. We are therefore proposing a novel classification scheme that will better account for respiratory and feeding difficulties in these infants. Finally, many knowledge gaps persist regarding this condition, underlining the necessity for further research both in the genetic field and regarding the outcome of therapy.

  8. Sandifer syndrome--a multidisciplinary diagnostic and therapeutic challenge.

    PubMed

    Lehwald, N; Krausch, M; Franke, C; Assmann, B; Adam, R; Knoefel, W T

    2007-06-01

    Sandifer syndrome, named after the neurologist Paul Sandifer, was first reported by M. Kinsbourne in 1962 who noticed a disorder of the upper gastrointestinal tract with neurological manifestations occurring in children and adolescents. Sandifer syndrome is a combination of gastro-oesophageal reflux disease with spastic torticollis and dystonic body movements with or without hiatal hernia. It is hypothesised that the positioning of the head provides relief from abdominal discomfort caused by acid reflux. The true pathophysiological mechanisms of the condition are still unclear. We report the diagnosis of Sandifer syndrome in a 9-year-old boy with a history of chronic torticollis and dystonic episodes for 5 years associated with abdominal symptoms. The cause of the dystonic body movements had not been found, although multiple neuropsychiatric diseases were suspected. The patient had been seen by many different specialities including Paediatrics, Paediatric Neurology, Psychology, Orthopaedic Surgery and ENT but the reason for the torticollis remained elusive. Unclear abdominal discomfort was the indication for an endoscopy that revealed severe gastro-oesophageal reflux disease with oesophagitis III degrees and a hiatal hernia which led to the correct diagnosis of Sandifer syndrome. After medical treatment and laparoscopic floppy Nissen fundoplication the symptoms nearly resolved 3 months after operation. Few reports of this syndrome exist, but Sandifer syndrome is probably underrecognised. Children with torticollis, dystonic episodes or atypical seizures should be evaluated for GERD and Sandifer syndrome. Early surgery, for example a laparoscopic floppy Nissen fundoplication or a Toupet procedure, can resolve the symptoms. PMID:17638161

  9. Extrabronchial symptoms and late phase reaction enhance the diagnostic value of aspirin bronchial challenge

    PubMed Central

    Zielińska-Wyderkiewicz, Ewa; Górski, Paweł; Kuna, Piotr

    2015-01-01

    Introduction Lysine aspirin (l-ASA) bronchial challenge can be used in the diagnostics of aspirin exacerbated respiratory disease. It is safer than oral challenge, however it is characterized by a lower sensitivity. Aim We sought to investigate whether additional indicators of the positive result of l-ASA bronchial challenge, i.e. late phase reaction (LPR) and extrabronchial symptoms (EBS), may enhance its diagnostic value. Material and methods Sixty-seven patients with a positive history of asthma exacerbated by aspirin and/or other non-steroidal inflammatory drugs underwent l-ASA bronchial challenge. The control groups comprised 15 aspirin tolerant asthmatics and 15 healthy subjects. Forced expiratory volume in 1 s (FEV1) and 24-hour peak expiratory flow (PEF) measurements were performed in all subjects in order to recognize early and late response to l-ASA. All subjects underwent oral ASA challenge 2 weeks after l-ASA bronchial challenge. Results Basing on FEV1 and PEF results, early reaction was present in 50.7% of patients, early and LPR in 29.9% and LPR in only 10.4% of aspirin exacerbated respiratory disease patients. The EBS were noted in 31.3% of subjects. Inclusion of LPR and EBS as positive criteria of the challenge increased sensitivity to 94.0%. Conclusions These results indicate that both LPR and EBS should be considered as positive criteria of aspirin bronchial challenge as they enhance its diagnostic value. PMID:26755906

  10. Diagnostic Stability of Psychiatric Disorders in Re-Admitted Psychiatric Patients in Kerman, Iran

    PubMed Central

    Alavi, Fatemeh; Nakhaee, Nouzar; Sabahi, Abdolreza

    2014-01-01

    Background: Several studies have evaluated the stability of psychiatric diagnosis follow in readmission of patients in psychiatric hospitals. However, there is little data concerning this matter from Iran. This study is designed to evaluate this diagnostic stability of the commonest psychiatric disorders in Iran. Objectives: The objective of this study was to determine the long-term diagnostic stability of the most prevalent psychiatric disorders among re-admitted patients at the Shahid Beheshti teaching hospital in Kerman, Iran. Patients and Methods: This study was based on 485 adult patients re-admitted at the Shahid Beheshti hospital between July and November 2012. All of the diagnoses were made according to DSM IV TR. Prospective and retrospective consistency and the ratio of patients who were obtained a diagnosis in at least 75%, 100% of the admissions were calculated. Results: The most frequent diagnoses at the first admission were bipolar disorder (48.5%) and Major depressive disorder (18.8%). The most stable diagnosis was bipolar disorder (71% prospective consistency, 69.4% retrospective consistency). Schizoaffective disorder had the greatest diagnostic instability (28.5% prospective consistency, 16.6% retrospective consistency). Conclusions: Among the cases evaluated, bipolar disorder had the most stability in diagnosis and the stability of schizoaffective disorder was poor. PMID:25168983

  11. Intermittent explosive disorder: development of integrated research criteria for Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition.

    PubMed

    Coccaro, Emil F

    2011-01-01

    This study was designed to develop a revised diagnostic criteria set for intermittent explosive disorder (IED) for consideration for inclusion in Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V). This revised criteria set was developed by integrating previous research criteria with elements from the current DSM-IV set of diagnostic criteria. Evidence supporting the reliability and validity of IED-IR ("IED Integrated Criteria") in a new and well-characterized group of subjects with personality disorder is presented. Clinical, phenomenologic, and diagnostic data from 201 individuals with personality disorder were reviewed. All IED diagnoses were assigned using a best-estimate process (eg, kappa for IED-IR >0.85). In addition, subjects meeting IED-IR criteria had higher scores on dimensional measures of aggression and had lower global functioning scores than non-IED-IR subjects, even when related variables were controlled. The IED-IR criteria were more sensitive than the DSM-IV criteria only in identifying subjects with significant impulsive-aggressive behavior by a factor of 16. We conclude that the IED-IR criteria can be reliably applied and have sufficient validity to warrant consideration as DSM-V criteria for IED.

  12. A Novel Screening and Diagnostic Tool for Child and Adolescent Psychiatric Disorders for Telepsychiatry

    PubMed Central

    Malhotra, Savita; Chakrabarti, Subho; Shah, Ruchita; Mehta, Anurati; Gupta, Aarzoo; Sharma, Minali

    2015-01-01

    Background: A diagnostic tool designed as part of a telepsychiatry application for diagnosis and management of child and adolescent psychiatric disorders in India was developed considering the paucity of trained child psychiatrists and mental health professionals in India. Materials and Methods: The diagnostic tool consisted of screening and 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10) criteria-based diagnostic algorithms for 18 psychiatric disorders seen in childhood and adolescence. Accuracy of diagnoses and feasibility of use of the tool was examined by comparing it with detailed semi-structured clinical evaluations by a qualified psychiatrist with 50 psychiatric patients (children and adolescents). Statistical Analysis: Descriptive analyses and paired t-tests were conducted to compare the mean number of diagnosis generated by the two interviews. Sensitivity, specificity, positive and negative predictive values were computed for the screening and the diagnostic sub-modules of the tool, compared to the clinical diagnoses. Kappa coefficients were computed to assess agreement between the diagnoses generated by the diagnostic sub-module and the clinical diagnoses. Results: The screening sub-module had high sensitivity, high specificity and negative predictive values for all disorders. For the diagnostic sub-module, there was moderate (kappa-0.4–0.6) to substantial agreement (kappa > 0.6) for all the disorders, (except psychosis) and high sensitivity (barring a few disorders) and specificity for almost all the disorders. Positive predictive values were found to be acceptable to high for most disorders, with consistently high negative predictive values. Conclusion: The new tool was found to be comprehensive, reasonably short and feasible. Results showed acceptable level of accuracy in diagnosis generated by the tool. PMID:26424901

  13. A Comparison of Adults with Intellectual Disabilities with and without ASD on Parallel Measures of Challenging Behaviour: The Behavior Problems Inventory-01 (BPI-01) and Autism Spectrum Disorders-Behavior Problems for Intellectually Disabled Adults (ASD-BPA)

    ERIC Educational Resources Information Center

    Rojahn, Johannes; Wilkins, Jonathan; Matson, Johnny L.; Boisjoli, Jessica

    2010-01-01

    Challenging behaviour may not be part of the diagnostic criteria for Autistic Disorder but they are frequently exhibited by children and adults with this condition. Levels of challenging behaviours are highest in individuals with an autism spectrum disorder (ASD) and co-occurring intellectual disability (ID). The sample for this study consisted of…

  14. Expanding the Taxonomy of the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD)

    PubMed Central

    Peck, Christopher C.; Goulet, Jean-Paul; Lobbezoo, Frank; Schiffman, Eric L.; Alstergren, Per; Anderson, Gary C.; de Leeuw, Reny; Jensen, Rigmor; Michelotti, Ambra; Ohrbach, Richard; Petersson, Arne; List, Thomas

    2014-01-01

    Background There is a need to expand the current temporomandibular disorder (TMD) classification to include less common, but clinically important disorders. The immediate aim was to develop a consensus-based classification system and associated diagnostic criteria that have clinical and research utility for less common TMDs. The long-term aim was to establish a foundation, vis-à-vis this classification system, that will stimulate data collection, validity testing, and further criteria refinement. Methods A working group [members of the International RDC/TMD Consortium Network of the International Association for Dental Research (IADR), members of the Orofacial Pain Special Interest Group (SIG) of the International Association for the Study of Pain (IASP), and members from other professional societies] reviewed disorders for inclusion based on clinical significance, the availability of plausible diagnostic criteria, and the ability to operationalize and study the criteria. The disorders were derived from the literature when possible and based on expert opinion as necessary. The expanded TMD taxonomy was presented for feedback at international meetings. Results Of 56 disorders considered, 37 were included in the expanded taxonomy and were placed into the following four categories: temporomandibular joint disorders, masticatory muscle disorders, headache disorders, and disorders affecting associated structures. Those excluded were extremely uncommon, lacking operationalized diagnostic criteria, not clearly related to TMDs, or not sufficiently distinct from disorders already included within the taxonomy. Conclusions The expanded TMD taxonomy offers an integrated approach to clinical diagnosis and provides a framework for further research to operationalize and test the proposed taxonomy and diagnostic criteria. PMID:24443898

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

    PubMed

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

    2015-06-01

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

  16. Assessment of a multi-assay biological diagnostic test for mood disorders in a Japanese population.

    PubMed

    Yamamori, Hidenaga; Ishima, Tamaki; Yasuda, Yuka; Fujimoto, Michiko; Kudo, Noriko; Ohi, Kazutaka; Hashimoto, Kenji; Takeda, Masatoshi; Hashimoto, Ryota

    2016-01-26

    The current diagnostic tests for mood disorders, including major depressive disorder (MDD) and bipolar disorder (BD), have limitations. Inflammatory markers, growth factors, and oxidative stress markers are involved in the pathophysiology of mood disorders. A multi-assay biological diagnostic test combining these biomarkers might improve diagnostic efficiency. The plasma levels of soluble tumor necrosis factor receptor 2 (sTNFR2), epidermal growth factor (EGF), and myeloperoxidase were measured in 40 MDD patients, 40 BD patients and 40 controls in a Japanese population. We also investigated the plasma levels of these markers in 40 patients with schizophrenia to determine the utility of these markers in differential diagnosis. The plasma levels of sTNFR2 were significantly higher in BD and schizophrenia patients than in controls. The plasma levels of EGF and myeloperoxidase were significantly higher in patients with BD than in controls. The correct classification rate obtained from discriminant analysis with sTNFR2 and EGF between controls and mood disorders was 69.2%, with a sensitivity and specificity of 62.5% and 82.5%, respectively. The correct classification rate obtained from discriminant analysis with sTNFR2 and EGF between controls and BD was 85.0%, with a sensitivity and specificity of 77.6% and 92.5%, respectively. Our results suggest that sTNFR2 and EGF could be biological markers of BD. Further studies are needed to determine the utility of these markers in diagnostic tests for mood disorders. PMID:26687272

  17. Urosepsis: Overview of the Diagnostic and Treatment Challenges.

    PubMed

    Wagenlehner, Florian M E; Pilatz, Adrian; Weidner, Wolfgang; Naber, Kurt G

    2015-10-01

    Urosepsis is defined as sepsis caused by an infection in the urogenital tract. In approximately 30% of all septic patients the infectious focus is localized in the urogenital tract, mainly due to obstructions at various levels, such as ureteral stones. Urosepsis may also occur after operations in the urogenital tract. In urosepsis, complete bacteria and components of the bacterial cell wall from the urogenital tract trigger the host inflammatory event and act as exogenous pyrogens on eukaryotic target cells of patients. A burst of second messenger molecules leads to several different stages of the septic process, from hyperactivity to immunosuppression. As pyelonephritis is the most frequent cause for urosepsis, the kidney function is therefore most important in terms of cause and as a target organ for dysfunction in the course of the sepsis.Since effective antimicrobial therapy must be initiated early during sepsis, the empiric intravenous therapy should be initiated immediately after microbiological sampling. For the selection of appropriate antimicrobials, it is important to know risk factors for resistant organisms and whether the sepsis is primary or secondary and community or nosocomially acquired. In addition, the preceding antimicrobial therapies should be recorded as precisely as possible. Resistance surveillance should, in any case, be performed locally to adjust for the best suitable empiric treatment. Treatment challenges arise from the rapid increase of antibiotic resistance in Gram-negative bacteria, especially extended-spectrum β-lactamase (ESBL)-producing bacteria. Treatment of urosepsis comprises four basic strategies I) supportive therapy (stabilizing and maintaining blood pressure), II) antimicrobial therapy, III) control or elimination of the complicating factor, and IV) specific sepsis therapy. PMID:26542042

  18. The surgical challenges of disorders of sex development (DSD).

    PubMed

    Gorduza, Daniela; Vidal, Isabelle; Birraux, Jacques; Gay, Claire-Lise; Demède, Delphine; Mure, Pierre-Yves; Mouriquand, Pierre

    2010-09-01

    Disorders of Sex Development (DSD) remain a fascinating challenge for the paediatricians, endocrinologists, biologists, psychiatrists, geneticists, radiologists, surgeons and for the whole society. This article aims at highlighting the current controversies and questions met with genital reconstruction in children born with abnormal genitalia. The main current techniques of masculinization and feminization are reviewed with their progress and their problems. The tools of decision used to assign a gender in some newborns with complex DSD are discussed showing that at the dawn of the third millenium, one still does not know why a boy is a boy, and a girl is a girl. PMID:20876944

  19. Poor Validity of the DSM-IV Schizoid Personality Disorder Construct as a Diagnostic Category.

    PubMed

    Hummelen, Benjamin; Pedersen, Geir; Wilberg, Theresa; Karterud, Sigmund

    2015-06-01

    This study sought to evaluate the construct validity of schizoid personality disorder (SZPD) by investigating a sample of 2,619 patients from the Norwegian Network of Personality-Focused Treatment Programs by a variety of statistical techniques. Nineteen patients (0.7%) reached the diagnostic threshold of SZPD. Results from the factor analyses indicated that SZPD consists of three factors: social detachment, withdrawal, and restricted affectivity/ anhedonia. Overall, internal consistency and diagnostic efficiency were poor and best for the criteria that belong to the social detachment factor. These findings pose serious questions about the clinical utility of SZPD as a diagnostic category. On the other hand, the three factors were in concordance with findings from previous studies and with the trait model for personality disorders in DSM-5, supporting the validity of SZPD as a dimensional construct. The authors recommend that SZPD should be deleted as a diagnostic category in future editions of DSM-5.

  20. Diagnostic validity across racial and ethnic groups in the assessment of adolescent DSM-IV disorders.

    PubMed

    Green, Jennifer Greif; Gruber, Michael J; Kessler, Ronald C; Lin, Julia Y; McLaughlin, Katie A; Sampson, Nancy A; Zaslavsky, Alan M; Alegria, Margarita

    2012-12-01

    We examine differential validity of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) diagnoses assessed by the fully-structured Composite International Diagnostic Interview Version 3.0 (CIDI) among Latino, non-Latino Black, and non-Latino White adolescents in comparison to gold standard diagnoses derived from the Schedule for Affective Disorders and Schizophrenia for School-age Children (K-SADS). Results are based on the National Comorbidity Survey Replication Adolescent Supplement, a national US survey of adolescent mental health. Clinicians re-interviewed 347 adolescent/parent dyads with the K-SADS. Sensitivity and/or specificity of CIDI diagnoses varied significantly by ethnicity/race for four of ten disorders. Modifications to algorithms sometimes reduced bias in prevalence estimates, but at the cost of reducing individual-level concordance. These findings document the importance of assessing fully-structured diagnostic instruments for differential accuracy in ethnic/racial subgroups.

  1. Early-Onset Bipolar Spectrum Disorders: Diagnostic Issues

    ERIC Educational Resources Information Center

    Danner, Stephanie; Fristad, Mary A.; Arnold, L. Eugene; Youngstrom, Eric A.; Birmaher, Boris; Horwitz, Sarah M.; Demeter, Christine; Findling, Robert L.; Kowatch, Robert A.

    2009-01-01

    Since the mid 1990s, early-onset bipolar spectrum disorders (BPSDs) have received increased attention in both the popular press and scholarly press. Rates of diagnosis of BPSD in children and adolescents have increased in inpatient, outpatient, and primary care settings. BPSDs remain difficult to diagnose, particularly in youth. The current…

  2. [The Revision and 5th Edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5): Consequences for the Diagnostic Work with Children and Adolescents].

    PubMed

    Zulauf Logoz, Marina

    2014-01-01

    The Revision and 5th Edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5): Consequences for the Diagnostic Work with Children and Adolescents.The present paper describes and discusses the major revisions in DSM-5 for children and adolescents. A major modification is that the separate chapter for disorders first diagnosed in childhood and adolescence was abandoned in favour of the integration of these clinical pictures into the relevant disorder-specific chapters. Several new diagnoses and diagnostic groups were introduced: "Disruptive mood regulation disorder" is a new diagnosis; the different diagnoses for autism were brought together into one, and a new diagnostic group for obsessive-compulsive disorders has been established. The developmental approach of DSM-5 and the integration of dimensional assessment tools are to be welcomed. Practice will show if the critiques afraid of possible increases in prevalences or those who approve the changes will end up being right.

  3. Disruptive Mood Dysregulation Disorder (DMDD): A New Diagnostic Approach to Chronic Irritability in Youth

    PubMed Central

    Roy, Amy Krain; Lopes, Vasco; Klein, Rachel G.

    2015-01-01

    Disruptive mood dysregulation disorder (DMDD) is a newcomer to psychiatric nosology. This new DSM-5 diagnosis addresses the need for improved classification and treatment of children exhibiting non-episodic irritability and severe temper outbursts. Currently, many of these children are diagnosed with bipolar disorder, despite the lack of distinct mood episodes. This diagnostic practice has raised concerns, in part due to the escalating prescription of atypical antipsychotics. This article provides an overview of the limited literature on DMDD including its history, and relevant studies of assessment and treatment. We include a case study to illustrate key points, including diagnostic issues that clinicians may encounter when considering a DMDD diagnosis. PMID:25178749

  4. Treatment of lysosomal storage disorders: successes and challenges.

    PubMed

    Hollak, Carla E M; Wijburg, Frits A

    2014-07-01

    Treatment options for a number of lysosomal storage disorders have rapidly expanded and currently include enzyme replacement therapy, substrate reduction, chaperone treatment, hematopoietic stem cell transplantation, and gene-therapy. Combination treatments are also explored. Most therapies are not curative but change the phenotypic expression of the disease. The effectiveness of treatment varies considerably between the different diseases, but also between sub-groups of patients with a specific lysosomal storage disorder. The heterogeneity of the patient populations complicates the prediction of benefits of therapy, specifically in patients with milder disease manifestations. In addition, there is a lack of data on the natural history of diseases and disease phenotypes. Initial trial data show benefits on relevant short-term endpoints, but the real world situation may reveal different outcomes. Collaborative international studies are much needed to study the long-term clinical efficacy of treatments, and to detect new complications or associated conditions of the diseases. This review summarizes the available treatment modalities for lysosomal storage disorders and the challenges associated with long term clinical care for these patients. PMID:24820227

  5. Intraosseous angiosarcoma with secondary aneurysmal bone cysts presenting as an elusive diagnostic challenge

    PubMed Central

    Tse, Lung Fung; Ek, Eugene TH; Slavin, John L; Schlicht, Stephen M; Choong, Peter FM

    2008-01-01

    Angiosarcoma of bone is an exceedingly rare primary bone malignancy that can present as an aggressive osteolytic lesion. Histological diagnosis can be extremely challenging, as the pathological features often resemble that of aneurysmal bone cysts. We report an interesting and peculiar case of an intraosseous angiosarcoma that presented as a diagnostic dilemma and discuss the relevant radiological and pathologic findings. PMID:18492283

  6. Computer-Assisted Diagnostic Decision Support: History, Challenges, and Possible Paths Forward

    ERIC Educational Resources Information Center

    Miller, Randolph A.

    2009-01-01

    This paper presents a brief history of computer-assisted diagnosis, including challenges and future directions. Some ideas presented in this article on computer-assisted diagnostic decision support systems (CDDSS) derive from prior work by the author and his colleagues (see list in Acknowledgments) on the INTERNIST-1 and QMR projects. References…

  7. [Endoscopic diagnostics of voice disorders in breastfed and young children].

    PubMed

    2011-01-01

    The objective of the present work was to study the prevalence, etiology, and semiotics of lesions in the acoustic apparatus. The secondary objectives were to estimate the informative and diagnostic value of various methods for the assessment of the state of the vocal apparatus (rigid endoscopy, fibroscopy, stroboscopy, and acoustic analysis of the voice) and to evaluate the prospects for their use in clinical practice. Moreover, the study was aimed at the development of an optimal therapeutic and diagnostic algorithm for the breastfeeding and young children suffering voice disturbances. The study included a total of 188 children aged from 4 days to 3 years presenting with the altered quality of voice who were examined using the clinical and instrumental methods for the estimation of the state of the larynx (rigid endoscopy, fibroscopy, and acoustic analysis of the voice) in combination with the modern computer-assisted technologies for the recording and processing of video images. It was found that disturbances of vocalization formation in the overwhelming majority of breastfeeding and young children (95.7%) can be attributed to dysphonia. Laryngeal pathology is most frequently diagnosed during the first year of life (28.2%). The leading cause of laryngeal lesions is inflammatory diseases (56.4%) followed by congenital malformations (25%).

  8. Developmentally sensitive diagnostic criteria for mental health disorders in early childhood: the diagnostic and statistical manual of mental disorders-IV, the research diagnostic criteria-preschool age, and the diagnostic classification of mental health and developmental disorders of infancy and early childhood-revised.

    PubMed

    Egger, Helen L; Emde, Robert N

    2011-01-01

    As the infant mental health field has turned its focus to the presentation, course, and treatment of clinically significant mental health disorders, the need for reliable and valid criteria for identifying and assessing mental health symptoms and disorders in early childhood has become urgent. In this article we offer a critical perspective on diagnostic classification of mental health disorders in young children. We place the issue of early childhood diagnosis within the context of classification of psychopathology at other ages and describe, in some detail, diagnostic classifications that have been developed specifically for young children, including the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC:0-3R; ZERO TO THREE, 2005), a diagnostic classification for mental health symptoms and disorders in infants, toddlers, and preschoolers. We briefly outline the role of diagnostic classification in clinical assessment and treatment planning. Last, we review the limitations of current approaches to the diagnostic classification of mental health disorders in young children.

  9. Anemia of Chronic Disorders: New Diagnostic Tools and New Treatment Strategies.

    PubMed

    Weiss, Guenter

    2015-10-01

    Anemia in the setting of chronic inflammatory disorders is a very frequent clinical condition, which is, however, often neglected or not properly treated given the problems often caused by the diseases underlying the development of anemia. Mechanistically, anemia is mainly caused by inflammation-driven retention of iron in macrophages making the metal unavailable for heme synthesis in the course of erythropoiesis, and further by impaired biological activity of the red blood cell hormone erythropoietin and the reduced proliferative capacity of erythroid progenitor cells. Anemia can be aggravated by chronic blood loss, as found in subjects with gastrointestinal cancers, inflammatory or infectious bowel disease, or iatrogenic blood loss in the setting of dialysis, all resulting in true iron deficiency. The identification of such patients is a clinical necessity because these individuals need contrasting therapies in comparison to subjects suffering from only classical anemia of chronic disorders. The diagnosis is challenging because no state of the art laboratory test is currently available that can clearly separate patients with inflammatory anemia from those with additional true iron deficiency. However, based on our expanding knowledge on the pathophysiology of inflammatory anemia, new diagnostic markers, including the iron-regulatory hormone hepcidin, and hematologic parameters emerge. Apart from traditional anemia treatments such as blood transfusions, recombinant erythropoietin, and iron, including new high-molecular-weight formulations, new therapeutics are currently under preclinical and clinical evaluation. These novel compounds aim at correcting anemia by multiple pathways, including antagonizing the inflammation- and hepcidin-driven retention of iron in the monocyte-macrophage system and thereby promoting the supply of iron for erythropoiesis or by stimulating the endogenous formation of erythopoietin via stabilization of hypoxia-regulated factors.

  10. [How relevant are diagnostics and therapy in body image disorder?].

    PubMed

    Vocks, Silja; Bauer, Anika

    2015-01-01

    Body image-related interventions become increasingly important in the treatment of anorexia and bulimia nervosa. Previous studies concerning body image disturbance conducted by means of diverse research methods focused on different components of body image - the perceptive, cognitive-emotional and the behavioral component. However, regarding the etiology, maintenance and treatment of body image disturbance in eating disorders, many questions remain unanswered. An integrative perspective on the different body image components within a theoretical framework as well as the development of specific body image-related interventions according to individual indications would be desirable. PMID:25594272

  11. Developing epigenetic diagnostics and therapeutics for brain disorders.

    PubMed

    Qureshi, Irfan A; Mehler, Mark F

    2013-12-01

    Perturbations in epigenetic mechanisms have emerged as cardinal features in the molecular pathology of major classes of brain disorders. We therefore highlight evidence which suggests that specific epigenetic signatures measurable in central - and possibly even in peripheral tissues - have significant value as translatable biomarkers for screening, early diagnosis, and prognostication; developing molecularly targeted medicines; and monitoring disease progression and treatment responses. We also draw attention to existing and novel therapeutic approaches directed at epigenetic factors and mechanisms, including strategies for modulating enzymes that write and erase DNA methylation and histone/chromatin marks; protein-protein interactions responsible for reading epigenetic marks; and non-coding RNA pathways.

  12. Developing epigenetic diagnostics and therapeutics for brain disorders

    PubMed Central

    Qureshi, Irfan A.; Mehler, Mark F.

    2013-01-01

    Perturbations in epigenetic mechanisms have emerged as cardinal features in the molecular pathology of major classes of brain disorders. We therefore highlight evidence which suggests that specific epigenetic signatures measurable in central—and possibly even in peripheral tissues—have significant value as translatable biomarkers for screening, early diagnosis, and prognostication; developing molecularly targeted medicines; and monitoring disease progression and treatment responses. We also draw attention to existing and novel therapeutic approaches directed at epigenetic factors and mechanisms, including strategies for modulating enzymes that write and erase DNA methylation and histone/chromatin marks; protein-protein interactions responsible for reading epigenetic marks; and non-coding RNA pathways. PMID:24145019

  13. Predicting Attention-Deficit/Hyperactivity Disorder and Oppositional Defiant Disorder from Preschool Diagnostic Assessments

    ERIC Educational Resources Information Center

    Harvey, Elizabeth A.; Youngwirth, Sara D.; Thakar, Dhara A.; Errazuriz, Paula A.

    2009-01-01

    The present study examined the power of measures of early preschool behavior to predict later diagnoses of attention-deficit/hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD)/conduct disorder (CD). Participants were 168 children with behavior problems at age 3 who underwent a multimethod assessment of ADHD and ODD symptoms and…

  14. The Revised Research Diagnostic Criteria for Temporomandibular Disorders: Methods used to Establish and Validate Revised Axis I Diagnostic Algorithms

    PubMed Central

    Schiffman, Eric L.; Ohrbach, Richard; Truelove, Edmond L.; Feng, Tai; Anderson, Gary C.; Pan, Wei; Gonzalez, Yoly M.; John, Mike T.; Sommers, Earl; List, Thomas; Velly, Ana M.; Kang, Wenjun; Look, John O.

    2011-01-01

    AIMS To derive reliable and valid revised Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) Axis I diagnostic algorithms for clinical TMD diagnoses. METHODS The multi-site RDC/TMD Validation Project’s dataset (614 TMD community and clinic cases, and 91 controls) was used to derive revised algorithms for Axis I TMD diagnoses. Validity of diagnostic algorithms was assessed relative to reference standards, the latter based on consensus diagnoses rendered by 2 TMD experts using criterion examination data, including temporomandibular joint imaging. Cut-offs for target validity were sensitivity ≥ 0.70 and specificity ≥ 0.95. Reliability of revised algorithms was assessed in 27 study participants. RESULTS Revised algorithm sensitivity and specificity exceeded the target levels for myofascial pain (0.82, 0.99, respectively) and myofascial pain with limited opening (0.93, 0.97). Combining diagnoses for any myofascial pain showed sensitivity of 0.91 and specificity of 1.00. For joint pain, target sensitivity and specificity were observed (0.92, 0.96) when arthralgia and osteoarthritis were combined as “any joint pain.” Disc displacement without reduction with limited opening demonstrated target sensitivity and specificity (0.80, 0.97). For the other Group II disc displacements and Group III osteoarthritis and osteoarthrosis, sensitivity was below target (0.35 to 0.53), and specificity ranged from 0.80 to meeting target. Kappa for revised algorithm diagnostic reliability was ≥ 0.63. CONCLUSION Revised RDC/TMD Axis I TMD diagnostic algorithms are recommended for myofascial pain and joint pain as reliable and valid. However, revised clinical criteria alone, without recourse to imaging, are inadequate for valid diagnosis of two of the three disc displacements and osteoarthritis/osteoarthrosis. PMID:20213032

  15. Diagnostic Trends in Autistic Spectrum Disorders in the South Wales Valleys

    ERIC Educational Resources Information Center

    Latif, A. H. A.; Williams, W. R.

    2007-01-01

    This study provides an analysis of the diagnostic trends in autistic spectrum disorder (ASD) for children aged under 17 years in the Rhondda and Taff Ely districts of South Wales. In the period 1988-2004, 336 children received a diagnosis of ASD and represent the case registry data of one community pediatric team. For the period 1994-2003, the…

  16. Diagnostic Subgroups of Depression in Adolescents with Emotional and Behavioral Disorders.

    ERIC Educational Resources Information Center

    Carmanico, Sharon J.; Erickson, Marilyn T.; Singh, Nirbhay N.; Best, Al M.; Sood, Aradhana A.; Oswald, Donald P.

    1998-01-01

    One hundred and eighty-five adolescent inpatients with emotional and behavioral disorders completed two self-report measures for depression and a structured diagnostic interview of depression. A cluster analysis found the following depression subgroups: nondepressed, endogenous depression, depressed mood with subclinical features, depression with…

  17. Validity Study of the Autism Spectrum Disorders-Diagnostic for Children (ASD-DC)

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Gonzalez, Melissa; Wilkins, Jonathan

    2009-01-01

    The Autism Spectrum Disorders-Diagnostic for Children (ASD-DC) is a 40-item Likert format scale designed to serve in the diagnosis of children and adolescents from 2 to 16 years of age. The reliability and factor structure of the scale have been established in previous research. Studies 1 and 2 were designed to evaluate the validity of the measure…

  18. How Different Are Girls and Boys above and below the Diagnostic Threshold for Autism Spectrum Disorders?

    ERIC Educational Resources Information Center

    Dworzynski, Katharina; Ronald, Angelica; Bolton, Patrick; Happe, Francesca

    2012-01-01

    Objective: This study aimed to explore sex differences in autistic traits in relation to diagnosis, to elucidate factors that might differentially impact whether girls versus boys meet diagnostic criteria for autism or a related autism spectrum disorder (ASD). Method: Data from a large population-based sample of children were examined. Girls and…

  19. Diagnostic Drawing Series: Research with Older People Diagnosed with Organic Mental Syndromes and Disorders.

    ERIC Educational Resources Information Center

    Couch, Janet Beaujon

    1994-01-01

    Used standardized three-picture art interview, Diagnostic Drawing Series (DDS), with older people. Collected artwork from 24 patients diagnosed with Organic Mental Syndromes and Disorders (OMS/D). Structural qualities found in art were identified using DDS. Observations of these qualities may aid in early diagnosis of OMS/D and help educate…

  20. Diagnostic Grouping among Adults with Intellectual Disabilities and Autistic Spectrum Disorders in Staffed Housing

    ERIC Educational Resources Information Center

    Felce, D.; Perry, J.

    2012-01-01

    Background: There is little evidence to guide the commissioning of residential provision for adults with autistic spectrum disorder (ASD) in the UK. We aim to explore the degree and impact of diagnostic congregation among adults with intellectual disabilities (ID) and ASD living in staffed housing. Methods: One hundred and fifty-seven adults with…

  1. A Systematic Review of the Diagnostic Stability of Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Woolfenden, Sue; Sarkozy, Vanessa; Ridley, Greta; Williams, Katrina

    2012-01-01

    There is debate in the current literature regarding the permanence of an Autism Spectrum Disorder (ASD) diagnosis. We undertook a systematic review of the diagnostic stability of ASD to summarise current evidence. A comprehensive search strategy was used to identify studies. Participants were children with ASD. Risk of bias was assessed by…

  2. Challenges in evaluating psychosocial interventions for Autistic Spectrum Disorders.

    PubMed

    Lord, Catherine; Wagner, Ann; Rogers, Sally; Szatmari, Peter; Aman, Michael; Charman, Tony; Dawson, Geraldine; Durand, V Mark; Grossman, Lee; Guthrie, Donald; Harris, Sandra; Kasari, Connie; Marcus, Lee; Murphy, Susan; Odom, Samuel; Pickles, Andrew; Scahill, Lawrence; Shaw, Evelyn; Siegel, Bryna; Sigman, Marian; Stone, Wendy; Smith, Tristram; Yoder, Paul

    2005-12-01

    In 2002, the National Institutes of Health sponsored a meeting concerning methodological challenges of research in psychosocial interventions in Autism Spectrum Disorders. This paper provides a summary of the presentations and the discussions that occurred during this meeting. Recommendations to federal and private agencies included the need for randomized clinical trials of comprehensive interventions for autism as the highest, but not the sole priority. Ongoing working groups were proposed to address psychosocial interventions with a focus on relevant statistics, standardized documentation and methods of diagnosis, development of outcome measures, establishment of standards in research; and the need for innovative treatment designs, including application of designs from other research areas to the study of interventions in ASD.

  3. Comparing the Diagnostic Accuracy of Six Potential Screening Instruments for Bipolar Disorder in Youths Aged 5 to 17 Years.

    ERIC Educational Resources Information Center

    Youngstrom, Eric A.; Findling, Robert L.; Calabrese, Joseph R.; Gracious, Barbara L.; Demeter, Christine; DelPorto Bedoya, Denise; Price, Megan

    2004-01-01

    Objective: To compare the diagnostic efficiency of six index tests as predictors of juvenile bipolar disorder in two large outpatient samples, aged 5 to 10 and 11 to 17 years, gathered from 1997 to 2002. Method: DSM-IV diagnosis was based on a semistructured diagnostic interview (Schedule for Affective Disorders and Schizophrenia for School-Age…

  4. Views on the Diagnostic Labels of Autism and Asperger's Disorder and the Proposed Changes in the DSM

    ERIC Educational Resources Information Center

    Kite, Donna M.; Gullifer, Judith; Tyson, Graham A.

    2013-01-01

    With the approaching release of the DSM V in 2013, there has been much debate about the proposal to remove the diagnostic label of Asperger's disorder from the new DSM. This study explored how health and education professionals perceive the conditions of autism and Asperger's disorder and their views on the proposed diagnostic changes.…

  5. DSM-V diagnostic criteria for bereavement-related disorders in children and adolescents: developmental considerations.

    PubMed

    Kaplow, Julie B; Layne, Christopher M; Pynoos, Robert S; Cohen, Judith A; Lieberman, Alicia

    2012-01-01

    Two bereavement-related disorders are proposed for the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V): Adjustment Disorder Related to Bereavement, to be located in the main body of the text as an official diagnostic entity; and Bereavement-Related Disorder, including a Traumatic Death Specifier, to be located in the Appendix as an invitation for further research. These diagnoses currently do not include developmentally informed criteria, despite the importance of developmental processes in the ways children and adolescents grieve. In this article, we draw upon a selective review of the empirical literature and expert clinical knowledge to recommend developmentally informed modifications and specifiers of the proposed criteria for both bereavement disorders and strategies to improve future research. This article is derived from an invited report submitted to the DSM-V Posttraumatic Stress Disorder, Trauma, and Dissociative Disorders Sub-Work Group, and suggested modifications have received preliminary approval to be incorporated into the DSM-V at the time of this writing. Adoption of these proposals will have far-reaching consequences, given that DSM-V criteria will influence both critical treatment choices for bereaved youth and the next generation of research studies.

  6. Primitive cerebral melanoma: a diagnostic and management challenge. About 2 cases.

    PubMed

    Mondot, L; Almairac, F; Vandenbos, F; Fontaine, D; Frenay, M; Chanalet, S

    2012-07-01

    In this report of two cases of solitary cerebral meningeal melanoma, a rare tumor that presents both diagnostic and management challenges, the diagnosis of these lesions was based on a solitary leptomeningeal mass on MRI, a high mitotic rate on histology and the absence of extracerebral localizations. Although the radiological patterns can mimic those of other melanocytic tumors, MRI is a useful diagnostic tool for narrowing the differential diagnosis. Surgical removal remains the only effective treatment of these lesions, and can lead to prolonged survival in a few cases. PMID:22169116

  7. Standardized diagnostic interviews, criteria, and algorithms for mental disorders: garbage in, garbage out.

    PubMed

    Linden, Michael; Muschalla, Beate

    2012-09-01

    There is a general consensus that diagnoses for mental disorders should be based on criteria and algorithms as given in ICD or DSM. Standardized clinical interviews are recommended as diagnostic methods. In ICD and DSM, much emphasis is put on algorithms, while the underlying criteria get much less attention. The question is how valid are the criteria that are collected by structured diagnostic interviews. 209 patients from a cardiology inpatient unit were interviewed with the Mini International Neuropsychiatric Interview (MINI). 32 (15.3%) were diagnosed as suffering from a major depressive episode or dysthymia. Additionally, a thorough clinical examination was done by a psychiatric expert in 15 patients. The standardized diagnosis of present major depression was reaffirmed in one. In total, four patients were suffering from some kind of depressive disorder presently or life time. Two patients were suffering from anxiety disorders, two from adjustment disorders, and four from different types of organic brain disorders. Most important, there are 3 out of 15 who are not mentally ill. Our observations show that standardized diagnostic interviews cannot be used to make specific differential diagnoses, but rather catch unspecific syndromes. This is partly due to the fact that the wording, definition, and understanding of the underlying criteria is rather vague. This is an even greater problem if there is any somatic comorbidity. In the revision of ICD and DSM, a glossary of psychopathological terms and guidelines for the training of clinicians should be included. PMID:22274737

  8. Preschoolers’ Observed Temperament and Psychiatric Disorders Assessed with a Parent Diagnostic Interview

    PubMed Central

    Dougherty, Lea R.; Bufferd, Sara J.; Carlson, Gabrielle A.; Dyson, Margaret; Olino, Thomas M.; Durbin, C. Emily; Klein, Daniel N.

    2011-01-01

    Evidence supports the role of temperament in the origins of psychiatric disorders. However, there are few data on associations between temperament and psychiatric disorders in early childhood. A community sample of 541 three-year old preschoolers participated in a laboratory temperament assessment, and caregivers were administered a structured diagnostic interview on preschool psychopathology. In bivariate analyses, temperamental dysphoria and low exuberance were associated with depression; fear, low exuberance, and low sociability were associated with anxiety disorders; and disinhibition and dysphoria were associated with oppositional defiant disorder. Although there were no bivariate associations between temperament and attention-deficit/hyperactivity disorder, disinhibition emerged as a unique predictor in multivariate analyses. Findings indicate that the pattern of relations between temperament and psychopathology in older youth and adults is evident as early as age 3. PMID:21391025

  9. New diagnostic criteria for alcohol use disorders and novel treatment approaches – 2014 update

    PubMed Central

    Tyburski, Ernest M.; Sokolowski, Andrzej; Samochowiec, Jerzy

    2014-01-01

    The study is aimed at presenting new diagnostic and therapeutic proposals for patients with alcohol use disorders. The revised ICD-11 which is currently being updated is coming closer to American standards in disease classification. The latest update of the American DSM-5 has been a notable step forward as it integrates alcohol abuse and alcohol dependence into a single disorder called alcohol use disorder. Recent developments in research into diagnostic tools have brought changes in the approach to therapy. According to most international guidelines, the form of treatment should be customised to the individual patient, with consideration given to his/her mental and physical condition, personality and natural setting. A significant change is the recommendation of a harm reduction strategy as a useful alternative to total abstinence in alcohol dependence treatment for some patients. PMID:25624858

  10. Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder

    PubMed Central

    Chang, Mun Young; Kim, Ah Reum; Kim, Nayoung K.D.; Lee, Chung; Park, Woong-Yang; Choi, Byung Yoon

    2015-01-01

    Abstract Auditory neuropathy spectrum disorder (ANSD) is a sensorineural hearing disorder caused by dysfunction of auditory neural conduction. ANSD has a heterogeneous etiology, including genetic factors; the response to cochlear implantation significantly varies depending on the etiology. The results of timely cochlear implantation for OTOF-related ANSD (DFNB9) have been reported to be good. Therefore, identifying the causative gene of ANSD, especially OTOF, is an important issue to rehabilitate these patients. Six sporadic ANSD subjects without anatomical abnormality of the cochlear nerve, including the 4 subjects that were previously reported to be without detectable OTOF mutation, were included. We performed targeted resequencing (TRS) of known deafness genes and multiphasic bioinformatics analyses of the data that ensured detection of capture failure and structural variations. Exclusion of SNP was also double checked. The TRS data previously obtained from 2 subjects were reanalyzed. Through this study, we detected 2 mutant alleles of OTOF from 5 (83.3%) of 6 ANSD subjects. All of the 5 subjects carried at least 1 mutant allele carrying p.R1939Q. This variant was categorized as a simple SNP (rs201326023) in the database and it resided in the exon with frequent capture failures, which previously led to exclusion of this variant from eligible candidacy mistakenly. In addition, we detected a structural variation within OTOF from a previously undiagnosed ANSD subject, which was the second structural variation reported in DFNB9 subjects to date. We identify a strong etiologic homogeneity of prelingual ANSD in case of the anatomically normal cochlear nerve in Koreans and now report DFNB9 as the single overwhelming cause. Multiphasic analysis of TRS data ensuring detection of capture failure and structural variations would be expected to reveal DFNB9 from a substantial portion of previously undiagnosed ANSD subjects in Koreans. Based on our results, we propose a novel

  11. Personality disorders in the DSM-5: current status, lessons learned, and future challenges. Introduction.

    PubMed

    Widiger, Thomas A; Krueger, Robert F

    2013-10-01

    Provides an introduction to a special section of Personality Disorders: Theory, Research, and Treatment. The purpose of this special section is to provide a discussion of the current status, lessons learned, and future challenges for the classification of personality disorders.

  12. Evaluation of the Revised Algorithm of Autism Diagnostic Observation Schedule (ADOS) in the Diagnostic Investigation of High-Functioning Children and Adolescents with Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Kamp-Becker, Inge; Ghahreman, Mardjan; Heinzel-Gutenbrunner, Monika; Peters, Mira; Remschmidt, Helmut; Becker, Katja

    2013-01-01

    The Autism Diagnostic Observation Schedule (ADOS) is a semi-structured, standardized assessment designed for use in diagnostic evaluation of individuals with suspected autism spectrum disorder (ASD). The ADOS has been effective in categorizing children who definitely have autism or not, but has lower specificity and sometimes sensitivity for…

  13. Prevalence of Autism Spectrum Disorder in Children Referred for Diagnostic Autism Evaluation.

    PubMed

    Monteiro, Sonia A; Spinks-Franklin, Adiaha; Treadwell-Deering, Diane; Berry, Leandra; Sellers-Vinson, Sherry; Smith, Eboni; Proud, Monica; Voigt, Robert G

    2015-12-01

    Increased public awareness of autism spectrum disorders (ASD) and routine screening in primary care have contributed to increased requests for diagnostic ASD evaluations. However, given the scarcity of subspecialty autism diagnostic resources, overreferral of children suspected of having ASD may be contributing to long waiting lists at tertiary care autism centers and delaying diagnosis for those children who truly have ASD. To determine whether children are being excessively referred to ASD-specific diagnostic clinics, our objective was to determine the prevalence of true ASD diagnoses in children referred for diagnostic ASD evaluation. Charts of all patients referred to a regional autism center between April 2011 and August 2012 for suspicion of a possible ASD were retrospectively reviewed and demographic and clinical diagnoses abstracted. Only 214 of 348 patients evaluated (61%) received an ASD diagnosis. Thus, concerns about autism are not confirmed by an ASD diagnosis in a significant number of children. PMID:26130396

  14. Prevalence of Autism Spectrum Disorder in Children Referred for Diagnostic Autism Evaluation.

    PubMed

    Monteiro, Sonia A; Spinks-Franklin, Adiaha; Treadwell-Deering, Diane; Berry, Leandra; Sellers-Vinson, Sherry; Smith, Eboni; Proud, Monica; Voigt, Robert G

    2015-12-01

    Increased public awareness of autism spectrum disorders (ASD) and routine screening in primary care have contributed to increased requests for diagnostic ASD evaluations. However, given the scarcity of subspecialty autism diagnostic resources, overreferral of children suspected of having ASD may be contributing to long waiting lists at tertiary care autism centers and delaying diagnosis for those children who truly have ASD. To determine whether children are being excessively referred to ASD-specific diagnostic clinics, our objective was to determine the prevalence of true ASD diagnoses in children referred for diagnostic ASD evaluation. Charts of all patients referred to a regional autism center between April 2011 and August 2012 for suspicion of a possible ASD were retrospectively reviewed and demographic and clinical diagnoses abstracted. Only 214 of 348 patients evaluated (61%) received an ASD diagnosis. Thus, concerns about autism are not confirmed by an ASD diagnosis in a significant number of children.

  15. The Diagnostic Challenge Competition: Probabilistic Techniques for Fault Diagnosis in Electrical Power Systems

    NASA Technical Reports Server (NTRS)

    Ricks, Brian W.; Mengshoel, Ole J.

    2009-01-01

    Reliable systems health management is an important research area of NASA. A health management system that can accurately and quickly diagnose faults in various on-board systems of a vehicle will play a key role in the success of current and future NASA missions. We introduce in this paper the ProDiagnose algorithm, a diagnostic algorithm that uses a probabilistic approach, accomplished with Bayesian Network models compiled to Arithmetic Circuits, to diagnose these systems. We describe the ProDiagnose algorithm, how it works, and the probabilistic models involved. We show by experimentation on two Electrical Power Systems based on the ADAPT testbed, used in the Diagnostic Challenge Competition (DX 09), that ProDiagnose can produce results with over 96% accuracy and less than 1 second mean diagnostic time.

  16. Environmental Challenges for the Nuclear Diagnostics on the NIF and LMJ

    SciTech Connect

    K. Miller et al.

    2007-06-27

    The National Ignition Facility (NIF) and Laser Mega Joule (LMJ) facilities are currently under construction in the United States and France. Ignited targets at these facilities are anticipated to produce up to 1019 deuterium-tritium fusion neutrons. This will provide unprecedented opportunities and challenges for the use of nuclear diagnostics in inertial confinement fusion experiments. The NIF and LMJ nuclear diagnostics will work in a harsh radiation environment that includes neutron, hard x-ray, and gamma backgrounds, neutron induced signals in coaxial cables, and electromagnetic pulse (EMP) generated signals. Recent results of different background measurements on OMEGA laser facility will be reported. Based on these results, specific design concepts have been identified to mitigate much of the radiation and EMP-induced backgrounds. An overview of the background mitigation techniques in the NIF nuclear diagnostics conceptual designs will be presented.

  17. Bilateral Adrenal Incidentalomas: A Case Report and Review of Diagnostic Challenges

    PubMed Central

    Carlson, Anders L.; Marney, Annis M.; Anderson, Scott R.; Gilbert, Matthew P.

    2013-01-01

    Incidentally discovered adrenal masses (incidentalomas) are common and present challenges both in diagnosis and management. When incidentally discovered adrenal masses are bilateral, a refined diagnostic approach is warranted since bilateral disease is more likely to be pathologic. We review a case of a 34-year-old man with incidentally discovered bilateral adrenal nodules. A comprehensive diagnostic strategy led to the diagnosis of bilateral pheochromocytoma caused by von Hippel-Lindau syndrome. He was successfully treated with bilateral laparoscopic adrenalectomy and has recovered well. While the initial diagnostic approach is similar to the unilateral incidentaloma, additional testing and/or genetic testing should be considered in the case of the bilateral adrenal mass. PMID:23401807

  18. Diagnostic evaluation for autism spectrum disorder: a survey of health professionals in Australia

    PubMed Central

    Taylor, Lauren J; Eapen, Valsamma; Maybery, Murray T; Midford, Sue; Paynter, Jessica; Quarmby, Lyndsay; Smith, Timothy; Williams, Katrina; Whitehouse, Andrew J O

    2016-01-01

    Objectives There is currently no agreed Australian standard for the diagnosis of autism spectrum disorder (ASD) even though there are specific diagnostic services available. We suspected inconsistency in the diagnostic practices of health professionals in Australia and aimed to assess these practices across the nation by surveying all relevant professional groups. Design In this study, we completed a survey of 173 health professionals whose clinical practice includes participating in the diagnostic process for ASD in Australia. Participants completed an online questionnaire which included questions about their diagnostic setting, diagnostic practice and diagnostic outcomes in 2014–2015. Participants Participants covered a range of disciplines including paediatrics, psychiatry, psychology, speech pathology and occupational therapy. All states and territories of Australia were represented. Setting Participants came from a range of service settings which included hospitals, non-governmental organisations, publicly funded diagnostic services and private practice. Results There was variability in diagnostic practices for ASD in Australia. While some clinicians work within a multidisciplinary assessment team, others practice independently and rarely collaborate with other clinicians to make a diagnostic decision. Only half of the respondents reported that they include a standardised objective assessment tool such as the Autism Diagnostic Observation Schedule in ASD assessments, and one-third indicated that they do not include measures of development, cognition and language in assessments where ASD is suspected. Conclusions Reported practice of some professionals in Australia may not be consistent with international best practice guidelines for ASD diagnosis. These findings highlight the need for a minimum national standard for ASD diagnosis throughout Australia that ensures best practice regardless of the type of setting in which the service is provided. PMID:27601502

  19. Some imminent but overlooked preanalytical and analytical challenges currently facing biomarkers and companion diagnostics.

    PubMed

    Halim, Abdel-Baset

    2015-06-01

    An incredibly high failure rate in the pharmaceutical industry has positioned personalized medicine with its prerequisite drug-diagnostic codevelopment, commonly known as companion diagnostics (CDx), in the frontline as an potential rescuer. This hopefulness is potentiated by the recent major advances and competitiveness in molecular diagnostics, making laboratory tests widely accessible at affordable prices. If executed correctly, biomarkers and CDx can potentially help the drug industry by enhancing the probability of success and possibly accelerating time to market; help the diagnostics industry develop tests utilizing precious, clinically annotated human samples; and, more importantly, benefit patients by supporting accurate diagnosis and selection of the most efficacious and least toxic therapies. However, this spectacular road is not yet paved, and it faces an enormous number of challenges. This paper will list these challenges and highlight some critical problems with representative examples of imminent but still overlooked preanalytical and analytical variables that can defeat the whole purpose of biomarkers and CDx and mislead drug developers and clinicians. The paper will provide some suggestions for mitigation. PMID:25758153

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

    PubMed

    Szczaluba, Krzysztof

    2014-01-01

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

  1. Validating the proposed diagnostic and statistical manual of mental disorders, 5th edition, severity indicator for personality disorder.

    PubMed

    Morey, Leslie C; Bender, Donna S; Skodol, Andrew E

    2013-09-01

    The authors sought to determine whether a 5-point global rating of personality dysfunction on the Level of Personality Functioning Scale proposed as a severity index for Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5), would be related to DSM-IV personality disorder diagnosis as well as to other key clinical judgments. Data were collected from a national sample of 337 mental health clinicians who provided complete diagnostic information relevant to DSM-IV and proposed DSM-5 personality disorder diagnoses, as well as demographic information and other clinical judgments, on one of their patients. Of the 337 patients described, 248 met criteria for 1 of the 10 specific DSM-IV personality disorders. A "moderate" or greater rating of impairment in personality functioning on the Level Scale demonstrated 84.6% sensitivity and 72.7% specificity for identifying patients meeting criteria for a specific DSM-IV personality disorder. The Level of Personality Functioning Scale had significant and substantial validity correlations with other measures of personality pathology and with clinical judgments regarding functioning, risk, prognosis, and optimal treatment intensity. Furthermore, the single-item Level of Personality Functioning rating was viewed as being as clinically useful as the 10 DSM-IV categories for treatment planning and patient description and was a better predictor of clinician ratings of broad psychosocial functioning than were the 10 DSM-IV categories combined. These results confirm hypotheses that the single-item Level of Personality Functioning Scale rating provides an indication of severity of personality pathology that predicts both assignment of personality disorder diagnosis and clinician appraisals of functioning, risk, prognosis, and needed treatment intensity.

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

    PubMed

    Loeffelholz, Michael; Fofanov, Yuriy

    2015-01-01

    Over the last 10 years, the quality, price and availability of high-throughput sequencing instruments have improved to the point that this technology may be close to becoming a routine tool in the diagnostic microbiology laboratory. Two groups of challenges, however, have to be resolved in order to move this powerful research technology into routine use in the clinical microbiology laboratory. The computational/bioinformatics challenges include data storage cost and privacy concerns, requiring analysis to be performed without access to cloud storage or expensive computational infrastructure. The logistical challenges include interpretation of complex results and acceptance and understanding of the advantages and limitations of this technology by the medical community. This article focuses on the approaches to address these challenges, such as file formats, algorithms, data collection, reporting and good laboratory practices. PMID:26394651

  3. Characteristics of binge eating disorder in relation to diagnostic criteria

    PubMed Central

    Wilfley, Denise E; Citrome, Leslie; Herman, Barry K

    2016-01-01

    The objective of this review was to examine the evidentiary basis for binge eating disorder (BED) with reference to the Diagnostic and Statistical Manual of Mental Disorders – Fifth Edition (DSM-5) diagnostic criteria for BED. A PubMed search restricted to titles and abstracts of English-language reviews, meta-analyses, clinical trials, randomized controlled trials, journal articles, and letters using human participants was conducted on August 7, 2015, using keywords that included “binge eating disorder,” DSM-5, DSM-IV, guilt, shame, embarrassment, quantity, psychological, behavior, and “shape and weight concerns.” Of the 257 retrieved publications, 60 publications were considered relevant to discussions related to DSM-5 diagnostic criteria and were included in the current review, and 20 additional references were also included on the basis of the authors’ knowledge and/or on a review of the reference lists from relevant articles obtained through the literature search. Evidence supports the duration/frequency criterion for BED and the primary importance of loss of control and marked distress in identifying individuals with BED. Although overvaluation of shape/weight is not a diagnostic criterion, its relationship to the severity of BED psychopathology may identify a unique subset of individuals with BED. Additionally, individuals with BED often exhibit a clinical profile consisting of psychiatric (eg, mood, obsessive–compulsive, and impulsive disorders) and medical (eg, gastrointestinal symptoms, metabolic syndrome, and type 2 diabetes) comorbidities and behavioral profiles (eg, overconsumption of calories outside of a binge eating episode and emotional eating). Future revisions of the BED diagnostic criteria should consider the inclusion of BED subtypes, perhaps based on the overvaluation of shape/weight, and an evidence-based reassessment of severity criteria. PMID:27621631

  4. Diagnostic Biomarkers for Posttraumatic Stress Disorder (PTSD): Promising Horizons from Translational Neuroscience Research

    PubMed Central

    Michopoulos, Vasiliki; Norrholm, Seth Davin; Jovanovic, Tanja

    2015-01-01

    Posttraumatic stress disorder (PTSD) is a heterogeneous disorder that affects individuals exposed to trauma (e.g., combat, interpersonal violence, and natural disasters). Although its diagnostic features have been recently re-classified with the emergence of the Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition (DSM-5), the disorder remains characterized by hyperarousal, intrusive reminders of the trauma, avoidance of trauma-related cues, and negative cognition and mood. This heterogeneity indicates the presence of multiple neurobiological mechanisms underlying the etiology and maintenance of PTSD. Translational research spanning the past few decades has revealed several potential avenues for the identification of diagnostic biomarkers for PTSD. These include, but are not limited to, monoaminergic transmitter systems, the hypothalamic-pituitary-adrenal (HPA) axis, metabolic hormonal pathways, inflammatory mechanisms, psychophysiological reactivity, and neural circuits. The current review provides an update to the literature with regard to the most promising putative PTSD biomarkers with specific emphasis on the interaction between neurobiological influences on disease risk and symptom progression. Such biomarkers will most likely be identified by multi-dimensional models derived from comprehensive descriptions of molecular, neurobiological, behavioral, and clinical phenotypes. PMID:25727177

  5. The diagnostic challenges presented by patients with medically unexplained symptoms in general practice

    PubMed Central

    Aiarzaguena, José M.; Grandes, Gonzalo; Salazar, Agustín; Gaminde, Idoia; Sánchez, Álvaro

    2008-01-01

    Objective To describe the complexity of somatizing patients’ symptomatology and the difficulties involved in the diagnostic process. Design Cross-sectional study of patients with medically unexplained symptoms. Setting Basque Health Service primary care centres in Bizkaia, Spain. Subjects The study comprised 156 patients selected at random from a list of 468 patients who had presented, over the course of their lives, six or more medically unexplained somatic symptoms for females and four or more for males, identified retrospectively by their practitioners. Main outcome measures Physicians interviewed these patients using the somatoform symptoms section of the Composite International Diagnostic Interview (CIDI), and the Primary Care Evaluation of Mental Disorders (PRIME-MD). The Medical Outcomes Survey Short Form 36 (SF-36) was filled in at home. Organic diseases whose diagnosis was established during the previous year were included in the study by consulting patients’ medical records. Results Patients were found to have a median of three medically explained and 12 medically unexplained symptoms. Mental disorders were found in 83% of cases, associated with other morbidity categories in 78%. The predictive value of symptoms was lower than 26% for diagnosing broad disease categories. Conclusions These results depict an extremely difficult scenario for dichotomous diagnostic strategies aimed at classifying patients’ symptoms as either organic or functional. Rather than struggling to choose one of these hypotheses, it is suggested that both of them should always be addressed concurrently. PMID:18570008

  6. Surgical and ethical challenges in disorders of sexual development.

    PubMed

    Fallat, Mary E; Hertweck, Paige; Ralston, Steven J

    2012-01-01

    A resolution to the difficulties faced by parents, physicians, and pediatric patients in treating DSDs will only come with better communication and improved research methodologies. Advocacy groups and the Internet have allowed the intersex community to have a larger role in guiding the research and the ethical frameworks that are used in treating these disorders. These disorders are unusual and collaboration across medical centers should be the rule rather than the exception. When possible, treatments that are innovative or experimental should be subjected to rigorous research oversight [29,30]. Defined periods of family crisis in which counseling and education become important are at the time of diagnosis [30,31], at the time of any surgical procedure, and at the beginning of major developmental stages. Historically, children were often left uninformed until someone judged them old and mature enough to comprehend how they were different. These attempts to protect individual children from their condition may have left them vulnerable to a personal crisis at an age when sexual identity and identity with a peer group are important. Both the needs of the child and the adult the child will become should be considered in making treatment decisions for children and adolescents with DSDs. It is best to counsel parents and educate developing children in a way that parallels chronologic and conceptual growth. When possible, the child should be involved in an age-appropriate fashion in the decision-making process and accurate information about the child's history and body should be made available. In addition, parents and families need as much information as possible and support systems that will help them navigate these challenging situations. PMID:22789583

  7. Surgical and ethical challenges in disorders of sexual development.

    PubMed

    Fallat, Mary E; Hertweck, Paige; Ralston, Steven J

    2012-01-01

    A resolution to the difficulties faced by parents, physicians, and pediatric patients in treating DSDs will only come with better communication and improved research methodologies. Advocacy groups and the Internet have allowed the intersex community to have a larger role in guiding the research and the ethical frameworks that are used in treating these disorders. These disorders are unusual and collaboration across medical centers should be the rule rather than the exception. When possible, treatments that are innovative or experimental should be subjected to rigorous research oversight [29,30]. Defined periods of family crisis in which counseling and education become important are at the time of diagnosis [30,31], at the time of any surgical procedure, and at the beginning of major developmental stages. Historically, children were often left uninformed until someone judged them old and mature enough to comprehend how they were different. These attempts to protect individual children from their condition may have left them vulnerable to a personal crisis at an age when sexual identity and identity with a peer group are important. Both the needs of the child and the adult the child will become should be considered in making treatment decisions for children and adolescents with DSDs. It is best to counsel parents and educate developing children in a way that parallels chronologic and conceptual growth. When possible, the child should be involved in an age-appropriate fashion in the decision-making process and accurate information about the child's history and body should be made available. In addition, parents and families need as much information as possible and support systems that will help them navigate these challenging situations.

  8. [Practical diagnostics of acid-base disorders: part I: differentiation between respiratory and metabolic disturbances].

    PubMed

    Deetjen, P; Lichtwarck-Aschoff, M

    2012-11-01

    The first part of this overview on diagnostic tools for acid-base disorders focuses on basic knowledge for distinguishing between respiratory and metabolic causes of a particular disturbance. Rather than taking sides in the great transatlantic or traditional-modern debate on the best theoretical model for understanding acid-base physiology, this article tries to extract what is most relevant for everyday clinical practice from the three schools involved in these keen debates: the Copenhagen, the Boston and the Stewart schools. Each school is particularly strong in a specific diagnostic or therapeutic field. Appreciating these various strengths a unifying, simplified algorithm together with an acid-base calculator will be discussed.

  9. Automatic brain caudate nuclei segmentation and classification in diagnostic of Attention-Deficit/Hyperactivity Disorder.

    PubMed

    Igual, Laura; Soliva, Joan Carles; Escalera, Sergio; Gimeno, Roger; Vilarroya, Oscar; Radeva, Petia

    2012-12-01

    We present a fully automatic diagnostic imaging test for Attention-Deficit/Hyperactivity Disorder diagnosis assistance based on previously found evidences of caudate nucleus volumetric abnormalities. The proposed method consists of different steps: a new automatic method for external and internal segmentation of caudate based on Machine Learning methodologies; the definition of a set of new volume relation features, 3D Dissociated Dipoles, used for caudate representation and classification. We separately validate the contributions using real data from a pediatric population and show precise internal caudate segmentation and discrimination power of the diagnostic test, showing significant performance improvements in comparison to other state-of-the-art methods.

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

    PubMed Central

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

    2015-01-01

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

  11. 'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases.

    PubMed

    Bouwman, Machtelt G; Teunissen, Quirine G A; Wijburg, Frits A; Linthorst, Gabor E

    2010-08-01

    The expansion of the internet has resulted in widespread availability of medical information for both patients and physicians. People increasingly spend time on the internet searching for an explanation, diagnosis or treatment for their symptoms. Regarding rare diseases, the use of the internet may be an important tool in the diagnostic process. The authors present two cases in which concerned parents made a correct diagnosis of a lysosomal storage disorder in their child by searching the internet after a long doctor's delay. These cases illustrate the utility of publicly available internet search engines in diagnosing rare disorders and in addition illustrate the lengthy diagnostic odyssey which is common in these disorders.

  12. Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population

    ERIC Educational Resources Information Center

    Al-Mamari, Watfa; Al-Saegh, Abeer; Al-Kindy, Adila; Bruwer, Zandre; Al-Murshedi, Fathiya; Al-Thihli, Khalid

    2015-01-01

    Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients…

  13. Impact of biotechnology in the diagnostic and therapeutic management of cardiovascular disorders.

    PubMed

    Fareed, J; Hoppensteadt, D; Iyer, L; Koza, M; Walenga, J M; Bermes, E

    1995-01-01

    Although biotechnology has been useful in the development of new diagnostic methods and drugs for the management of cardiovascular disorders, there are several issues which raise certain questions on the global use of biotechnology based drugs and diagnostic methods (Piascik, 1991; Fareed, 1993a; Fareed, 1994a). The cost is rather prohibitive in the development of this type of technology. Most diagnostic methods and drugs developed utilizing biotechnology based methods are relatively expensive. The second important consideration is the equivalence of the newer biotechnology derived drugs to the natural products. Many of the biotechnology derived drugs are obtained in prokaryotic systems (E. coli). Post-transcriptional modifications such as glycosylation are often important in determining the function of various proteins. On the other hand, biotechnology based diagnostic methods exhibit somewhat different specificity in comparison to conventional methods. Thus, it is rather important to assess the developments in this area in a careful manner. Furthermore, validation of the clinical, diagnostic and therapeutic efficacy of biotechnology derived diagnostic devices and drugs is a prerequisite for their use in cardiovascular medicine.

  14. Diagnostic and Statistical Manual of Mental Disorders-5: implications for older adults and their families.

    PubMed

    Sorrell, Jeanne M

    2013-03-01

    The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) is targeted for publication in May 2013. Older adults and their families should be aware of the potential impact that changes in this important document may have on diagnosis and treatment of mental health concerns. Two specific changes related to a new category of Neurocognitive Disorders and a new interpretation of criteria for depression after bereavement are discussed in this article. Nurses can help older adults and their families understand the new DSM-5 terminology and encourage them to discuss risks, benefits, and likely outcomes of diagnoses, procedures, and treatments that may seem unfamiliar.

  15. Language Disorders Are Learning Disabilities: Challenges on the Divergent and Diverse Paths to Language Learning Disability

    ERIC Educational Resources Information Center

    Sun, Lei; Wallach, Geraldine P.

    2014-01-01

    This article takes readers along the pathway of language learning and disorders across childhood and adolescence, highlighting the complex relationship between early (preschool) language disorders and later (school age) learning disabilities. The discussion starts with a review of diagnostic labels widely used in schools and other professional…

  16. The Call for a New "Diagnostic and Statistical Manual of Mental Disorders" Diagnosis: Addictive Disorders

    ERIC Educational Resources Information Center

    Hagedorn, W. Bryce

    2009-01-01

    Without a consensually validated definition and a set of diagnostic criteria, counselors lack the necessary assessment and treatment tools to work effectively with clients with process addictions and their families. Necessary criteria and the results of a needs assessment are presented.

  17. Diagnosing autism spectrum disorders in adults: the use of Autism Diagnostic Observation Schedule (ADOS) module 4.

    PubMed

    Bastiaansen, Jojanneke A; Meffert, Harma; Hein, Simone; Huizinga, Petra; Ketelaars, Cees; Pijnenborg, Marieke; Bartels, Arnold; Minderaa, Ruud; Keysers, Christian; de Bildt, Annelies

    2011-09-01

    Autism Diagnostic Observation Schedule (ADOS) module 4 was investigated in an independent sample of high-functioning adult males with an autism spectrum disorder (ASD) compared to three specific diagnostic groups: schizophrenia, psychopathy, and typical development. ADOS module 4 proves to be a reliable instrument with good predictive value. It can adequately discriminate ASD from psychopathy and typical development, but is less specific with respect to schizophrenia due to behavioral overlap between autistic and negative symptoms. However, these groups differ on some core items and explorative analyses indicate that a revision of the algorithm in line with Gotham et al. (J Autism Dev Disord 37: 613-627, 2007) could be beneficial for discriminating ASD from schizophrenia.

  18. How should we revise diagnostic criteria for substance use disorders in the DSM-V?

    PubMed

    Martin, Christopher S; Chung, Tammy; Langenbucher, James W

    2008-08-01

    This article reviews literature on the validity and performance characteristics of the Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV; American Psychiatric Association, 1994) diagnostic criteria for substance use disorders (SUDs) and recommends changes in these criteria that should be considered for the next edition of the DSM (DSM-V). Substantial data indicate that DSM-IV substance abuse and substance dependence are not distinct categories and that SUD criteria are best modeled as reflecting a unidimensional continuum of substance-problem severity. The conceptually and empirically problematic substance abuse diagnosis should be abandoned in the DSM-V, with substance dependence defined by a single set of criteria. Data also indicate that various individual SUD criteria should be revised, dropped, or considered for inclusion in the DSM-V. The DSM-V should provide a framework that allows the integration of categorical and dimensional approaches to diagnosis. Important areas for further research are noted.

  19. Diagnostic validity across racial and ethnic groups in the assessment of adolescent DSM-IV disorders

    PubMed Central

    Green, Jennifer Greif; Gruber, Michael J.; Kessler, Ronald C.; Lin, Julia Y.; McLaughlin, Katie A.; Sampson, Nancy A.; Zaslavsky, Alan M.; Alegria, Margarita

    2013-01-01

    We examine differential validity of DSM-IV diagnoses assessed by the fully-structured Composite International Diagnostic Interview Version 3.0 (CIDI) among Latino, Non-Latino Black, and Non-Latino White adolescents in comparison to gold standard diagnoses derived from the Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS). Results are based on the National Comorbidity Survey Replication Adolescent Supplement, a national US survey of adolescent mental health. Clinicians re-interviewed 347 adolescent/parent dyads with the K-SADS. Sensitivity and/or specificity of CIDI diagnoses varied significantly by ethnicity/race for four of ten disorders. Modifications to algorithms sometimes reduced bias in prevalence estimates, but at the cost of reducing individual-level concordance. These findings document the importance of assessing fully-structured diagnostic instruments for differential accuracy in ethnic/racial subgroups. PMID:23148026

  20. A diagnostic interview for acute stress disorder for children and adolescents.

    PubMed

    Miller, Alisa; Enlow, Michelle Bosquet; Reich, Wendy; Saxe, Glenn

    2009-12-01

    The goal of this study was to develop a semistructured clinical interview for assessing acute stress disorder (ASD) in youth and test its psychometric properties. Youth (N = 168) with an acute burn or injury were administered the acute stress disorder module of the Diagnostic Interview for Children and Adolescents (DICA-ASD). The DICA-ASD demonstrated strong psychometric properties, including high internal consistency (alpha = .97) and perfect diagnostic interrater agreement (kappa = 1.00). Participants diagnosed with ASD scored significantly higher than those not diagnosed on validated traumatic stress symptomatology measures but not on other symptomatology measures, providing evidence of convergent and discriminant validity. Preliminary evidence supports the reliability and validity of the first semistructured clinical interview for diagnosing ASD in youth.

  1. Distinguishing Myasthenia Exacerbation from Severe Preeclampsia: A Diagnostic and Therapeutic Challenge.

    PubMed

    Sikka, Pooja; Joshi, Bharti; Aggarwal, Neelam; Suri, Vanita; Bhagat, Hement

    2015-08-01

    Myasthenia gravis is an acquired, autoimmune neuromuscular disorder characterized by voluntary muscle weakness. Pregnant patients may have disease exacerbation, respiratory failure, crisis, adverse drug reaction, surprisingly enough remission at any trimester or postnatal period. Concurrence of myasthenia gravis with severe preeclampsia is a dreadful condition raising diagnostic and management issues. We hereby discuss a case of myasthenic woman who developed severe preeclampsia during pregnancy and presented in last trimester with clinical features mimicking signs of impending eclampsia. Keeping in mind the history of myasthenia gravis, urgent neurology review taken and diagnosis of myasthenic exacerbation was entertained. She responded well to injection neostigmine and in this way inadvertent use of magnesium sulphate was avoided.

  2. Exploratory Factor Analysis of Diagnostic and Statistical Manual, 5th Edition, Criteria for Posttraumatic Stress Disorder.

    PubMed

    McSweeney, Lauren B; Koch, Ellen I; Saules, Karen K; Jefferson, Stephen

    2016-01-01

    One change to the posttraumatic stress disorder (PTSD) nomenclature highlighted in the Diagnostic and Statistical Manual, 5th Edition (DSM-5; American Psychiatric Association, 2013) is the conceptualization of PTSD as a diagnostic category with four distinct symptom clusters. This article presents exploratory factor analysis to test the structural validity of the DSM-5 conceptualization of PTSD via an online survey that included the PTSD Checklist-5. The study utilized a sample of 113 college students from a large Midwestern university and 177 Amazon Mechanical Turk users. Participants were primarily female, Caucasian, single, and heterosexual with an average age of 32 years. Approximately 30% to 35% of participants met diagnostic criteria for PTSD based on two different scoring criteria. Results of the exploratory factor analysis revealed five distinct symptom clusters. The implications for the classification of PTSD are discussed.

  3. Views on the diagnostic labels of autism and Asperger's disorder and the proposed changes in the DSM.

    PubMed

    Kite, Donna M; Gullifer, Judith; Tyson, Graham A

    2013-07-01

    With the approaching release of the DSM V in 2013, there has been much debate about the proposal to remove the diagnostic label of Asperger's disorder from the new DSM. This study explored how health and education professionals perceive the conditions of autism and Asperger's disorder and their views on the proposed diagnostic changes. Analysis of the 547 participant responses confirmed an increase stigma is associated with the label of autism, with autism considered to be a more severe than the condition of Asperger's disorder. Approximately half of the participants reported being opposed to proposed diagnostic changes and of the remaining participants, 22% supported the proposed changes and 28% expressed uncertainty.

  4. Challenging Behaviors in Adults with Intellectual Disability: The Effects of Race and Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Horovitz, Max; Matson, Johnny L.; Hattier, Megan A.; Tureck, Kimberly; Bamburg, Jay W.

    2013-01-01

    Rates of challenging behaviors were assessed in 175 adults with intellectual disability (ID) or ID and a comorbid autism spectrum disorder (ASD). The relationship between ASD diagnosis, race, and challenging behaviors was assessed using the "Autism Spectrum Disorders-Behavior Problems for Adults (ASD-BPA)." Those with ASD and ID were found to…

  5. Challenges of Parenting Children with a Fetal Alcohol Spectrum Disorder: A Concept Map

    ERIC Educational Resources Information Center

    Brown, Jason D.; Bednar, Lisa M.

    2004-01-01

    The purpose of the study was to describe the challenges of parents of children with a fetal alcohol spectrum disorder (FASD). Nineteen birth, foster or adoptive parents were asked to answer the following question: "What are the challenges you face parenting a child with a fetal alcohol spectrum disorder?" The data were analyzed using…

  6. Facing the Challenge--Conduct Disorders and Aggression.

    ERIC Educational Resources Information Center

    Arllen, Nancy L.; Gable, Robert A.

    This paper examines the nature of student conduct disorders, including both the origin and treatment of such disorders. In Part I, distinguishing characteristics of the syndrome are discussed and issues related to philosophy, definition, and delivery of services are considered. Two major subcategories of conduct disorder, socialized and…

  7. Diagnostic Stability of Acute and Transient Psychotic Disorders in Developing Country Settings: An Overview

    PubMed Central

    Mehta, Shubham

    2015-01-01

    Acute and transient psychotic disorders (ATPD), introduced in the International Classification of Diseases (ICD-10) diagnostic system in 1992, are not receiving much attention in developing countries. Therefore, the main objective of this article is to review the literature related to the diagnostic stability of ATPD in developing countries. A PubMed search was conducted to review the studies concerned with this issue in the context of developing countries, as diagnostic stability is more of a direct test of validity of psychiatric diagnoses. Four publications were found. According to the literature search, the stability percentage of the ICD-10 ATPD diagnosis is 63-100%. The diagnostic shift is more commonly either towards bipolar disorder or schizophrenia, if any. Shorter duration of illness (<1 month) and abrupt onset (<48 hours) predict a stable diagnosis of ATPD. Based on available evidence, the diagnosis of ATPD appears to be relatively stable in developing countries. However, it is difficult to make a definitive conclusion, as there is a substantial lack of literature in developing country settings. PMID:26266021

  8. Evolving refractory major depressive disorder diagnostic and treatment paradigms: toward closed-loop therapeutics.

    PubMed

    Ward, Matthew P; Irazoqui, Pedro P

    2010-01-01

    Current antidepressant therapies do not effectively control or cure depressive symptoms. Pharmaceutical therapies altogether fail to address an estimated 4 million Americans who suffer from a recurrent and severe treatment-resistant form of depression known as refractory major depressive disorder. Subjective diagnostic schemes, differing manifestations of the disorder, and antidepressant treatments with limited theoretical bases each contribute to the general lack of therapeutic efficacy and differing levels of treatment resistance in the refractory population. Stimulation-based therapies, such as vagus nerve stimulation, transcranial magnetic stimulation, and deep brain stimulation, are promising treatment alternatives for this treatment-resistant subset of patients, but are plagued with inconsistent reports of efficacy and variable side effects. Many of these problems stem from the unknown mechanisms of depressive disorder pathogenesis, which prevents the development of treatments that target the specific underlying causes of the disorder. Other problems likely arise due to the non-specific stimulation of various limbic and paralimbic structures in an open-loop configuration. This review critically assesses current literature on depressive disorder diagnostic methodologies, treatment schemes, and pathogenesis in order to emphasize the need for more stringent depressive disorder classifications, quantifiable biological markers that are suitable for objective diagnoses, and alternative closed-loop treatment options tailored to well-defined forms of the disorder. A closed-loop neurostimulation device design framework is proposed, utilizing symptom-linked biomarker abnormalities as control points for initiating and terminating a corrective electrical stimulus which is autonomously optimized for correcting the magnitude and direction of observed biomarker abnormality.

  9. Parenting among Mothers with Bipolar Disorder: Strengths, Challenges, and Service Needs

    ERIC Educational Resources Information Center

    Venkataraman, Meenakshi; Ackerson, Barry J.

    2008-01-01

    Bipolar disorder is a severe form of mental illness with a primary disruption in mood. With fluctuating phases of mania and depression, bipolar disorder can have a serious impact on all activities of daily living, including parenting. Ten mothers with bipolar disorder were interviewed to understand their strengths, challenges, and service needs in…

  10. From estimating activation locality to predicting disorder: A review of pattern recognition for neuroimaging-based psychiatric diagnostics.

    PubMed

    Wolfers, Thomas; Buitelaar, Jan K; Beckmann, Christian F; Franke, Barbara; Marquand, Andre F

    2015-10-01

    Psychiatric disorders are increasingly being recognised as having a biological basis, but their diagnosis is made exclusively behaviourally. A promising approach for 'biomarker' discovery has been based on pattern recognition methods applied to neuroimaging data, which could yield clinical utility in future. In this review we survey the literature on pattern recognition for making diagnostic predictions in psychiatric disorders, and evaluate progress made in translating such findings towards clinical application. We evaluate studies on many criteria, including data modalities used, the types of features extracted and algorithm applied. We identify problems common to many studies, such as a relatively small sample size and a primary focus on estimating generalisability within a single study. Furthermore, we highlight challenges that are not widely acknowledged in the field including the importance of accommodating disease prevalence, the necessity of more extensive validation using large carefully acquired samples, the need for methodological innovations to improve accuracy and to discriminate between multiple disorders simultaneously. Finally, we identify specific clinical contexts in which pattern recognition can add value in the short to medium term.

  11. Assessment of mental disorders in preschoolers: the multiaxial profiles of diagnostic classification 0-3.

    PubMed

    Maestro, Sandra; Rossi, Giuseppe; Curzio, Olivia; Felloni, Beatrice; Grassi, Cinzia; Intorcia, Claudia; Petrozzi, Angela; Salsedo, Helen; Muratori, Filippo

    2014-01-01

    A group of 291 preschoolers consecutively enrolled at the Early Childhood Mental Health Service of IRCSS Stella Maris (Italy) were assessed using the Diagnostic Classification Zero to Three (DC:0-3; ZERO TO THREE, 1994). All active variables were extracted from its five axes, and a multiple correspondence analysis was performed. This analysis evidenced four multiaxial clinical profiles: (a) Multisystem developmental disorders (Axis I) were correlated with the underinvolved quality of relationship (Axis II), medical conditions (Axis III), and a low level of emotional functioning (Axis V); (b) regulatory disorders (Axis I) were correlated with maladaptive or angry/hostile relationship (Axis II), medical conditions (Axis III), and an immature level of emotional functioning (Axis V); (c) affective disorders (Axis I) were correlated with anxious/tense relationship (Axis II), stress factors (Axis IV), and emotional functioning vulnerable to stress (Axis V); and (d) adjustment, feeding, and sleeping disorders (Axis I) were correlated with mild relationship disorders (Axis II) and important impact of stress factors (Axis IV). These findings support DC:0-3 as a valid tool to detect multiaxial profiles that could be useful to plan comprehensive treatments of the disorders.

  12. Behavioral response inhibition in psychotic disorders: diagnostic specificity, familiality and relation to generalized cognitive deficit.

    PubMed

    Ethridge, Lauren E; Soilleux, Melanie; Nakonezny, Paul A; Reilly, James L; Hill, S Kristian; Keefe, Richard S E; Gershon, Elliot S; Pearlson, Godfrey D; Tamminga, Carol A; Keshavan, Matcheri S; Sweeney, John A

    2014-11-01

    Difficulty inhibiting context-inappropriate behavior is a common deficit in psychotic disorders. The diagnostic specificity of this impairment, its familiality, and its degree of independence from the generalized cognitive deficit associated with psychotic disorders remain to be clarified. Schizophrenia, schizoaffective and bipolar patients with history of psychosis (n=523), their available first-degree biological relatives (n=656), and healthy participants (n=223) from the multi-site B-SNIP study completed a manual Stop Signal task. A nonlinear mixed model was used to fit logistic curves to success rates on Stop trials as a function of parametrically varied Stop Signal Delay. While schizophrenia patients had greater generalized cognitive deficit than bipolar patients, their deficits were similar on the Stop Signal task. Further, only bipolar patients showed impaired inhibitory control relative to healthy individuals after controlling for generalized cognitive deficit. Deficits accounted for by the generalized deficit were seen in relatives of schizophrenia and schizoaffective patients, but not in relatives of bipolar patients. In clinically stable patients with psychotic bipolar disorder, impaired inhibitory behavioral control was a specific cognitive impairment, distinct from the generalized neuropsychological impairment associated with psychotic disorders. Thus, in bipolar disorder with psychosis, a deficit in inhibitory control may contribute to risk for impulsive behavior. Because the deficit was not familial in bipolar families and showed a lack of independence from the generalized cognitive deficit in schizophrenia spectrum disorders, it appears to be a trait related to illness processes rather than one tracking familial risk factors.

  13. A Review of the Evolution of Diagnostic Practices for Fetal Alcohol Spectrum Disorder

    ERIC Educational Resources Information Center

    Pei, Jacqueline; Rinaldi, Christina

    2004-01-01

    Fetal Alcohol Spectrum Disorders (FASD) are characterized by cognitive, emotional, behavioural, and social disabilities. FASD are complex and pose many challenges for clinicians and researchers in the assessment, diagnosis, and intervention process. The variations in amount, timing, and frequency of alcohol that is consumed during pregnancy can…

  14. Practice Bulletin No. 162 Summary: Prenatal Diagnostic Testing for Genetic Disorders.

    PubMed

    2016-05-01

    Prenatal genetic diagnostic testing is intended to determine, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. In contrast, prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. Originally, prenatal genetic testing focused primarily on Down syndrome (trisomy 21), but now it is able to detect a broad range of genetic disorders. Although it is necessary to perform amniocentesis or chorionic villus sampling (CVS) to definitively diagnose most genetic disorders, in some circumstances, fetal imaging with ultrasonography, echocardiography, or magnetic resonance imaging may be diagnostic of a particular structural fetal abnormality that is suggestive of an underlying genetic condition.The objective of prenatal genetic testing is to detect health problems that could affect the woman, fetus, or newborn and provide the patient and her obstetrician-gynecologist or other obstetric care provider with enough information to allow a fully informed decision about pregnancy management. Prenatal genetic testing cannot identify all abnormalities or problems in a fetus, and any testing should be focused on the individual patient's risks, reproductive goals, and preferences. It is important that patients understand the benefits and limitations of all prenatal screening and diagnostic testing, including the conditions for which tests are available and the conditions that will not be detected by testing. It also is important that patients realize that there is a broad range of clinical presentations, or phenotypes, for many genetic disorders and that results of genetic testing cannot predict all outcomes. Prenatal genetic testing has many benefits, including reassuring patients when results are normal, identifying disorders for which prenatal treatment may provide benefit, optimizing neonatal outcomes by ensuring the appropriate location for

  15. Cost-Effectiveness Analysis of a Reduction in Diagnostic Imaging in Degenerative Spinal Disorders

    PubMed Central

    Kim, Joanne S.M.; Dong, Joyce Z.; Brener, Stacey; Coyte, Peter C.; Rampersaud, Y. Raja

    2011-01-01

    Background: Advanced imaging technologies such as computed tomography (CT) and magnetic resonance imaging (MRI) are highly sensitive, but often non-specific, diagnostic tools. Despite this, CT and MRI are overutilized in degenerative spinal disorder diagnosis. From the perspective of the Ministry of Health, we evaluated against usual care the cost-effectiveness of a hypothetical triage program for non-emergent spinal disorders that reduces unnecessary imaging uses. Methods: Diagnostic and surgical data were prospectively collected on 2,046 outpatients who received consultation with the senior surgical author at Toronto Western Hospital, University Health Network, between September 2005 and April 2008. Using these data, we modelled an evidence-based diagnostic triage program wherein spine-focused clinical assessments and plain X-ray imaging would be applied prior to CT and MRI. Incremental costs were the incurred expenses from additional consultations and plain X-rays less the cost savings from the eliminated CT and MRI scans, expressed in 2009 Canadian dollars. Outcomes were expressed as the number of surgical candidates identified per MRI used in diagnosis, reflecting the efficiency of diagnostic imaging. Results: The triage program incurred $109,720 from additional consultations and plain X-rays and saved $2,117,697 from eliminated CT and MRI scans, resulting in net cost savings of $2,007,977 for the 31 months of the study period, or $777,282 per year. In usual care, 0.328~0.418 surgical candidates were identified per MRI whereas in the triage program, 0.736~0.885 surgical candidates were identified per MRI, resulting in over a twofold improvement in MRI efficiency. The triage program was therefore dominating. Applying to high-volume spine surgeons in Ontario, we estimated that the implementation of the triage program would save the province $24,234,929 per year. Interpretation: Based on the assumptions made in our modelling, eliminating unnecessary imaging in

  16. Wide complex tachycardia in the presence of class I antiarrhythmic agents: a diagnostic challenge.

    PubMed

    Bhardwaj, Bhaskar; Lazzara, Ralph; Stavrakis, Stavros

    2014-05-01

    We present two patients with paroxysmal atrial fibrillation on class 1C antiarrhythmic drugs without concomitant atrioventricular (AV) nodal blocking agents who developed atrial flutter with 1:1 AV conduction. Their electrocardiogram revealed wide complex tachycardia with rates >200/minute. Atrial flutter with 1:1 conduction in the presence of class IC antiarrhythmic drugs may present a diagnostic challenge. These cases illustrate the importance of coadministering an AV nodal blocking agent with class IC antiarrhythmic agents in patients with atrial fibrillation. The differential diagnosis of wide complex tachycardia in patients taking class IC agents should include atrial flutter with 1:1 AV conduction.

  17. A Case of Bullous Skin Disease Presenting with Odynophagia: A Diagnostic Challenge.

    PubMed

    Kravvas, G; Veitch, D; Perrett, C M

    2016-01-01

    We report a case of Epidermolysis Bullosa Acquisita (EBA) that presented as a diagnostic challenge. A 60-year-old Qatari lady presented with odynophagia, oral ulceration, and weight loss. Multiple physicians investigated her for over 6 months with a multitude of tests and serial gastroscopies, all of which failed to reach a conclusive diagnosis. Only after referral to a dermatologist and full body examination was diagnosis finally achieved. After reviewing the literature, we provide a summary of EBA and highlight the importance of comprehensive clinical reviews in order to avoid unnecessary morbidity. PMID:27066279

  18. A Case of Bullous Skin Disease Presenting with Odynophagia: A Diagnostic Challenge

    PubMed Central

    Kravvas, G.; Veitch, D.

    2016-01-01

    We report a case of Epidermolysis Bullosa Acquisita (EBA) that presented as a diagnostic challenge. A 60-year-old Qatari lady presented with odynophagia, oral ulceration, and weight loss. Multiple physicians investigated her for over 6 months with a multitude of tests and serial gastroscopies, all of which failed to reach a conclusive diagnosis. Only after referral to a dermatologist and full body examination was diagnosis finally achieved. After reviewing the literature, we provide a summary of EBA and highlight the importance of comprehensive clinical reviews in order to avoid unnecessary morbidity. PMID:27066279

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

    PubMed

    Men'shikov, V V

    2013-04-01

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

  20. Understanding Eating Disorders in Elite Gymnastics: Ethical and Conceptual Challenges.

    PubMed

    Tan, Jacinta Oon Ai; Calitri, Raff; Bloodworth, Andrew; McNamee, Michael J

    2016-04-01

    Eating disorders and disordered eating are more common in high performance sports than the general population, and particularly so in high performance aesthetic sports. This paper presents some of the conceptual difficulties in understanding and diagnosing eating disorders in high performance gymnasts. It presents qualitative and quantitative data from a study designed to ascertain the pattern of eating disorder symptoms, depressive symptoms and levels of self-esteem among national and international level gymnasts from the UK in the gymnastic disciplines of sport acrobatics, tumbling, and rhythmic gymnastics. PMID:26832977

  1. Management challenges in a case of gender identity disorder.

    PubMed

    Rathi, Anubhav; Bhatia, Manjeet Singh

    2014-01-01

    Gender identity disorder (GID) is a complex disorder and can be defined as a group of disorders whose common feature is a strong and persistent preference for living as a person of the other sex. It is associated with significant impairment in social, occupational, interpersonal, and other areas of functioning. We describe the case of an adolescent, biologically male who was brought to our outpatient department primarily with symptoms of adjustment disorder with GID and the management provided. The role of a psychiatrist in the management, ethical and legal issues involved is also discussed.

  2. Understanding Eating Disorders in Elite Gymnastics: Ethical and Conceptual Challenges.

    PubMed

    Tan, Jacinta Oon Ai; Calitri, Raff; Bloodworth, Andrew; McNamee, Michael J

    2016-04-01

    Eating disorders and disordered eating are more common in high performance sports than the general population, and particularly so in high performance aesthetic sports. This paper presents some of the conceptual difficulties in understanding and diagnosing eating disorders in high performance gymnasts. It presents qualitative and quantitative data from a study designed to ascertain the pattern of eating disorder symptoms, depressive symptoms and levels of self-esteem among national and international level gymnasts from the UK in the gymnastic disciplines of sport acrobatics, tumbling, and rhythmic gymnastics.

  3. Diagnostic laboratory for bleeding disorders ensures efficient management of haemorrhagic disorders.

    PubMed

    Riddell, A; Chuansumrit, A; El-Ekiaby, M; Nair, S C

    2016-07-01

    Haemorrhagic disorders like Postpartum haemorrhage and Dengue haemorrhagic fever are life threatening and requires an active and efficient transfusion service that could provide the most appropriate blood product which could be effective in managing them. This would essentially require prompt identification of the coagulopathy so that the best available product can be given to the bleeding patient to correct the identified haemostatic defect which will help control the bleeding. This would only be possible if the transfusion service has a laboratory to correctly detect the haemostatic defect and that too with an accuracy and precision which is ensured by a good laboratory quality assurance practices. These same processes are necessary for the transfusion services to ensure the quality of the blood products manufactured by them and that it contains adequate amounts of haemostasis factors which will be good to be effective in the management of haemorrhagic disorders. These issues are discussed in detail individually in the management of postpartum haemorrhage and Dengue haemorrhagic fever including when these can help in the use of rFVIIa in Dengue haemorrhagic fever. The requirements to ensure good-quality blood products are made available for the management of these disorders and the same have also been described. PMID:27405683

  4. Persistent digestive disorders in the tropics: causative infectious pathogens and reference diagnostic tests

    PubMed Central

    2013-01-01

    Background Persistent digestive disorders account for considerable disease burden in the tropics. Despite advances in understanding acute gastrointestinal infections, important issues concerning epidemiology, diagnosis, treatment and control of most persistent digestive symptomatologies remain to be elucidated. Helminths and intestinal protozoa are considered to play major roles, but the full extent of the aetiologic spectrum is still unclear. We provide an overview of pathogens causing digestive disorders in the tropics and evaluate available reference tests. Methods We searched the literature to identify pathogens that might give rise to persistent diarrhoea, chronic abdominal pain and/or blood in the stool. We reviewed existing laboratory diagnostic methods for each pathogen and stratified them by (i) microscopy; (ii) culture techniques; (iii) immunological tests; and (iv) molecular methods. Pathogen-specific reference tests providing highest diagnostic accuracy are described in greater detail. Results Over 30 pathogens may cause persistent digestive disorders. Bacteria, viruses and parasites are important aetiologic agents of acute and long-lasting symptomatologies. An integrated approach, consisting of stool culture, microscopy and/or specific immunological techniques for toxin, antigen and antibody detection, is required for accurate diagnosis of bacteria and parasites. Molecular techniques are essential for sensitive diagnosis of many viruses, bacteria and intestinal protozoa, and are increasingly utilised as adjuncts for helminth identification. Conclusions Diagnosis of the broad spectrum of intestinal pathogens is often cumbersome. There is a need for rapid diagnostic tests that are simple and affordable for resource-constrained settings, so that the management of patients suffering from persistent digestive disorders can be improved. PMID:23347408

  5. Risk Factors for Challenging Behaviors among 157 Children with Autism Spectrum Disorder in Ireland

    ERIC Educational Resources Information Center

    Murphy, Olivia; Healy, Olive; Leader, Geraldine

    2009-01-01

    The aim of this study was to identify risk factors for the occurrence of challenging behavior along with the specific topographies of challenging behavior shown by a sample of children with autism spectrum disorder in Ireland. The occurrence of challenging behavior was examined in comparison with the following variables: gender, age, level of…

  6. Resistance to treatment in eating disorders: a critical challenge.

    PubMed

    Fassino, Secondo; Abbate-Daga, Giovanni

    2013-01-01

    The Special Issue "Treatment resistance in Eating Disorders" gathers together the contributions provided by several experienced groups of researchers in the field of Eating Disorders (EDs). The main topic is addressed from multiple perspectives ranging from pathogenesis (including developmental and maintaining factors) to treatment. An explicative model of resistance in EDs is also proposed. PMID:24229426

  7. Challenging and Offending Behaviour by Adults with Developmental Disorders.

    ERIC Educational Resources Information Center

    Holland, A. J.

    1991-01-01

    This paper discusses the assessment of psychiatric and behavior disorders occurring in people with developmental disorders and the problems arising when such behavior results in offenses against the law. The paper argues that a multidisciplinary approach is needed in such cases, given the complex interaction among possible brain pathology,…

  8. Bipolar disorder in general practice: challenges and opportunities.

    PubMed

    Piterman, Leon; Jones, Kay M; Castle, David J

    2010-08-16

    General practitioners are involved in the continuing care and shared care of patients with chronic mental illness, including bipolar disorder. Psychiatrists are particularly reliant on GPs to monitor and treat comorbidities as well as the psychiatric condition itself. Management of chronic mental illness is compromised by a number of factors, including problems with diagnosis, physical comorbidity, erratic attendance and poor compliance with treatment. Diagnosis of bipolar disorder is often delayed, and differential diagnoses to be considered include unipolar depression, anxiety disorder, drug and alcohol dependence, personality disorder, attention deficit hyperactivity disorder, and general medical and central nervous system diseases. New Medicare items have been introduced under the Better Access to Mental Health Care initiative. However, uptake for patients with chronic psychiatric illness, including bipolar disorder, is low. Patients with bipolar disorder may be prone to a range of comorbid psychological, social and physical problems, and GPs need to be vigilant to detect and manage comorbidity and social problems as part of the overall plan. This includes assistance with certification for sickness and unemployment benefits. GPs may become involved during crises affecting patients and this may pose significant problems for GPs who need to provide ongoing care following patient discharge from hospital. Despite these difficulties, opportunities exist for GPs to play a vital and ongoing role in the management of patients with bipolar disorder. PMID:20712554

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

    PubMed Central

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

    2015-01-01

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

  10. Important hemoprotozoan diseases of livestock: Challenges in current diagnostics and therapeutics: An update

    PubMed Central

    Maharana, Biswa Ranjan; Tewari, Anup Kumar; Saravanan, Buddhi Chandrasekaran; Sudhakar, Naduvanahalli Rajanna

    2016-01-01

    Hemoprotozoan parasites pose a serious threat to the livestock population in terms of mortality, reduced milk yield and lowered draft power. Diagnosis of these diseases often poses a challenging task. Needless to say that impact of disease in health and productivity is huge though a fair economic assessment on the quantum of economic loss associated is yet to be worked out from India. The diagnosis of hemoprotozoan infections largely depends on various laboratory-based diagnostic methods as the clinical manifestations are often inconspicuous and non-specific. Traditional diagnostic methods rely on microscopical demonstration of infective stages in blood or tissue fluids. However, it is laborious, lesser sensitive, and cannot differentiate between morphologically similar organisms. Recent development in the technologies has opened new avenues for improvement in the accurate diagnosis of parasitic infections. Serological tests are simple, fast but lack specificity. With advent of molecular techniques, as DNA hybridization assays, polymerase chain reaction and its modifications ensure the detection of infection in the latent phase of the disease. Nucleic acid-based assays are highly sensitive, free from immunocompetence and can differentiate between morphologically similar parasites. With the advent of newer diagnostics complemented with traditional ones will be of huge help for targeted selective treatment with better chemotherapeutic agents. PMID:27284225

  11. Important hemoprotozoan diseases of livestock: Challenges in current diagnostics and therapeutics: An update.

    PubMed

    Maharana, Biswa Ranjan; Tewari, Anup Kumar; Saravanan, Buddhi Chandrasekaran; Sudhakar, Naduvanahalli Rajanna

    2016-05-01

    Hemoprotozoan parasites pose a serious threat to the livestock population in terms of mortality, reduced milk yield and lowered draft power. Diagnosis of these diseases often poses a challenging task. Needless to say that impact of disease in health and productivity is huge though a fair economic assessment on the quantum of economic loss associated is yet to be worked out from India. The diagnosis of hemoprotozoan infections largely depends on various laboratory-based diagnostic methods as the clinical manifestations are often inconspicuous and non-specific. Traditional diagnostic methods rely on microscopical demonstration of infective stages in blood or tissue fluids. However, it is laborious, lesser sensitive, and cannot differentiate between morphologically similar organisms. Recent development in the technologies has opened new avenues for improvement in the accurate diagnosis of parasitic infections. Serological tests are simple, fast but lack specificity. With advent of molecular techniques, as DNA hybridization assays, polymerase chain reaction and its modifications ensure the detection of infection in the latent phase of the disease. Nucleic acid-based assays are highly sensitive, free from immunocompetence and can differentiate between morphologically similar parasites. With the advent of newer diagnostics complemented with traditional ones will be of huge help for targeted selective treatment with better chemotherapeutic agents. PMID:27284225

  12. Important hemoprotozoan diseases of livestock: Challenges in current diagnostics and therapeutics: An update.

    PubMed

    Maharana, Biswa Ranjan; Tewari, Anup Kumar; Saravanan, Buddhi Chandrasekaran; Sudhakar, Naduvanahalli Rajanna

    2016-05-01

    Hemoprotozoan parasites pose a serious threat to the livestock population in terms of mortality, reduced milk yield and lowered draft power. Diagnosis of these diseases often poses a challenging task. Needless to say that impact of disease in health and productivity is huge though a fair economic assessment on the quantum of economic loss associated is yet to be worked out from India. The diagnosis of hemoprotozoan infections largely depends on various laboratory-based diagnostic methods as the clinical manifestations are often inconspicuous and non-specific. Traditional diagnostic methods rely on microscopical demonstration of infective stages in blood or tissue fluids. However, it is laborious, lesser sensitive, and cannot differentiate between morphologically similar organisms. Recent development in the technologies has opened new avenues for improvement in the accurate diagnosis of parasitic infections. Serological tests are simple, fast but lack specificity. With advent of molecular techniques, as DNA hybridization assays, polymerase chain reaction and its modifications ensure the detection of infection in the latent phase of the disease. Nucleic acid-based assays are highly sensitive, free from immunocompetence and can differentiate between morphologically similar parasites. With the advent of newer diagnostics complemented with traditional ones will be of huge help for targeted selective treatment with better chemotherapeutic agents.

  13. Dimensional versus categorical classification of mental disorders in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders and beyond: comment on the special section.

    PubMed

    Brown, Timothy A; Barlow, David H

    2005-11-01

    The value of including dimensional elements in the Diagnostic and Statistical Manual of Mental Disorders (DSM) has been recognized for decades. Nevertheless, no proposals have been made for introducing dimensional classification in the diagnostic system in a valid and feasible manner. As an initial step in this endeavor, the authors suggest introducing dimensional severity ratings to the extant diagnostic categories and criteria sets. Although not without difficulties, this would begin to determine the feasibility of dimensional classification and would address some limitations of the purely categorical approach (e.g., failure to capture individual differences in disorder severity, and clinically significant features subsumed by other disorders or falling below conventional DSM thresholds). The utility of incorporating broader dimensions of temperament and personality in diagnostic systems beyond the fifth edition of the DSM is also discussed.

  14. Is my patient a bleeder? A diagnostic framework for mild bleeding disorders.

    PubMed

    Quiroga, Teresa; Mezzano, Diego

    2012-01-01

    Congenital mild bleeding disorders (MBDs) are very prevalent and are the source of frequent diagnostic problems. Most MBDs are categorized as disorders of primary hemostasis (ie, type 1 VWD and platelet function disorders), but mild or moderate deficiencies of clotting factors and some rare hyperfibrinolytic disorders are also included. These patients have abnormal bleeding from the skin and mucous membranes, menorrhagia, and disproportionate hemorrhages after trauma, invasive procedures, and surgery. This review addresses the main problems that physicians and hemostasis laboratories confront with the diagnosis of these patients, including: discerning normal/appropriate from pathological bleeding, the role and yield of screening tests, the lack of distinctive bleeding pattern among the different diseases, the inherent difficulties in the diagnosis of type 1 VWD and the most common platelet functional disorders, improvements in assays to measure platelet aggregation and secretion, and the evidence that most of the patients with MBDs end up without a definite diagnosis after exhaustive and repeated laboratory testing. Much research is needed to determine the pathogenesis of bleeding in MBD patients. Better standardization of current laboratory assays, progress in the knowledge of fibrinolytic mechanisms and their laboratory evaluation, and new understanding of the factors contributing to platelet-vessel wall interaction, along with the corresponding development of laboratory tools, should improve our capacity to diagnose a greater proportion of patients with MBDs.

  15. Drinking correlates of DSM-IV alcohol use disorder diagnostic orphans in college students.

    PubMed

    Hagman, Brett T; Cohn, Amy M

    2012-01-01

    One major limitation of the DSM-IV criteria for alcohol abuse and dependence is that a cluster of individuals who endorse a subthreshold number of dependence criteria and no abuse criteria do not receive a formal diagnosis; despite elevated risk for alcohol-related problems relative to those with an abuse diagnosis. These individuals have been referred to as diagnostic orphans. The primary aim of this study was to examine alcohol use correlates of a group of diagnostic orphans in a sample of 396 nontreatment seeking college students who reported drinking on at least one occasion in the last 90 days. DSM-IV criteria were assessed using a modified version of the Composite International Diagnostic Interview-Substance Abuse Module (CIDI-SAM). Diagnostic orphans represented 34.1% (n = 135) of the original sample who did not receive a formal diagnosis; with the most frequently endorsed dependence criteria being tolerance and drinking larger/longer amounts than intended. Diagnostic orphans reported a range of alcohol-related negative consequences and reported greater frequencies of social and enhancement drinking motives in comparison to coping motives. They were similar to alcohol abusers and dissimilar to those with dependence or those without a diagnosis on alcohol consumption, alcohol problem severity, drinking motives and restraint variables. The present findings indicate that diagnostic orphans in college students represent a distinct group of drinkers who may be at risk for the development of alcohol use disorders and may be in need of intervention, given their similarity to those with an abuse diagnosis. Prevention and intervention efforts across college campuses should target this group to prevent escalation of alcohol problem severity.

  16. Scurvy-scorbutic siderosis of gingiva: A diagnostic challenge - A rare case report.

    PubMed

    Japatti, Sharanabasappa R; Bhatsange, Anuradha; Reddy, Manjunath; Chidambar, Y S; Patil, Satish; Vhanmane, Priyanka

    2013-05-01

    This case reports a rare condition of scurvy which posed a diagnostic difficulty. However, a thorough medical and diet history, along with clinical and histopathological examination aided in prompt diagnosis and successful management of the case. Occurrence of scurvy in today's contemporary society is said to be rare. Lack of fresh fruits and vegetables in the diet can lead to this condition. Diagnosis may be difficult due to its rarity and presence of non specific symptoms, which may pose a challenge to the clinician. A comprehensive history, clinical examination along with clinical and histopathological features led to arrive at a proper diagnosis. Local procedures and systemic therapy aided in the successful management of the case. A marked improvement in the gingival status and in the physical well being of the patient resulted after treatment. This case report describes the various manifestations of scurvy that posed a diagnostic challenge to the clinician. This condition which can be fatal if untreated can be easily prevented with inclusion of healthy food in the diet and modification in the lifestyle.

  17. Scurvy-scorbutic siderosis of gingiva: A diagnostic challenge - A rare case report.

    PubMed

    Japatti, Sharanabasappa R; Bhatsange, Anuradha; Reddy, Manjunath; Chidambar, Y S; Patil, Satish; Vhanmane, Priyanka

    2013-05-01

    This case reports a rare condition of scurvy which posed a diagnostic difficulty. However, a thorough medical and diet history, along with clinical and histopathological examination aided in prompt diagnosis and successful management of the case. Occurrence of scurvy in today's contemporary society is said to be rare. Lack of fresh fruits and vegetables in the diet can lead to this condition. Diagnosis may be difficult due to its rarity and presence of non specific symptoms, which may pose a challenge to the clinician. A comprehensive history, clinical examination along with clinical and histopathological features led to arrive at a proper diagnosis. Local procedures and systemic therapy aided in the successful management of the case. A marked improvement in the gingival status and in the physical well being of the patient resulted after treatment. This case report describes the various manifestations of scurvy that posed a diagnostic challenge to the clinician. This condition which can be fatal if untreated can be easily prevented with inclusion of healthy food in the diet and modification in the lifestyle. PMID:24019811

  18. Interrelationship between Autism Diagnostic Observation Schedule-Generic (ADOS-G), Autism Diagnostic Interview-Revised (ADI-R), and the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) classification in children and adolescents with mental retardation.

    PubMed

    de Bildt, Annelies; Sytema, Sjoerd; Ketelaars, Cees; Kraijer, Dirk; Mulder, Erik; Volkmar, Fred; Minderaa, Ruud

    2004-04-01

    The interrelationship between the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule-Generic (ADOS-G) and clinical classification was studied in 184 children and adolescents with Mental Retardation (MR). The agreement between the ADI-R and ADOS-G was fair, with a substantial difference between younger and older children (5-8 vs. 8+ years). Compared with the Diagnostic and Statistical Manual of Mental Disorders-IV-TR (DSM-IV-TR) classification of Autistic Disorder (AD) and Pervasive Developmental Disorder (PDD), both instruments measure AD or PDD validly and reliably. Even in low-functioning children the interrelationship between the instruments and the clinical classification was satisfactory. The combination of ADI-R and ADOS-G identifies AD or PDD, as described in the DSM-IV-TR, most appropriately. Both instruments seem to be of great value in the diagnostic process of PDD in children and adolescents with MR.

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

    PubMed

    Parnas, Josef; Jansson, Lennart B

    2015-01-01

    The release of DSM-5 and the preparations for the launch of the ICD-11 provoked a series of critiques of psychiatric classification, which continues to depend largely on clinical description. Among the immediate problems are those of arbitrary diagnostic thresholds, tendency to reification, rigid category boundaries, comorbidity, diagnostic 'epidemics' and differential diagnostic dilemmas. We argue that many of those problems stem from the polythetic-operational definitions of psychiatric categories, which thereby come to lack an organizing prototype-directed or gestaltic intelligibility principle. We illustrate these issues by briefly examining the current operational diagnosis of schizophrenia, its demarcation from affective illness and the status of the spectrum concept and the prodrome of schizophrenia. We point out that European research on schizophrenia always allocated an important diagnostic weight to a certain prototypical trait core of the illness, phenomenologically indispensable for its demarcation from other, nonschizophrenic psychotic conditions. We believe that the notion of self-disorder (reflective of the structural alterations of subjectivity), itemized into its various aspects in the Examination of Anomalous Self-Experience scale, is an important step forward in a more precise psychopathological articulation of that core, strengthening its clinical and research utility. PMID:26346370

  20. Diagnostic practice and its impacts on parental health and child behaviour problems in autism spectrum disorders.

    PubMed

    Reed, Phil; Osborne, Lisa A

    2012-10-01

    Obtaining a diagnosis is a key point in developing a treatment plan for children with autism spectrum disorders (ASD), but little attention has been paid to the impacts of diagnostic practices on families, and the consequent impact on child outcomes. Parents' experiences during ASD diagnosis for their child can be stressful, and such stress can lead to parental ill health, child-behaviour problems, and poorer child outcomes following treatment. Thus, the conduct of diagnosis may be of particular importance for subsequent child outcomes and parental health. A lack of knowledge regarding best diagnostic practice may ultimately impair treatment efficacy and lead to increased health- and economic-burdens. Given this, the current article examines recent work concerning: parental experiences of ASD diagnoses; general health and psychological functioning of parents of newly-diagnosed children with ASD; aspects of the diagnostic process impacting on parental functioning; and the relationship of parental functioning to child outcomes. These are placed into the context of diagnostic best practice for ASD, and understanding the complex relationship between ASD and family variables.

  1. [Non-epileptic sleep disorders (somnambulism) in epilepsy. Diagnostic and therapeutic possibilities].

    PubMed

    Kaschnitz, W; Scheer, P J; Kratky-Dunitz, M; Broussalis, T

    1991-11-01

    The case history of a 15 1/2-year-old boy is presented who suffers from screaming fits during the night and epilepsia. The problem has existed since he was eight. He lives alone with his mother in a "partner-like" relationship. The previous diagnosis, namely epilepsy, has masked any possible psychodynamic element. Our diagnostic instruments were: 1. Standardized diagnostics with DSM III-R; 2. psychoanalytically oriented psychodiagnostics; 3. long term EEG-video-monitoring, which eventually succeeded in differentiating his multiple symptoms. Using these methods we were able to differentiate a sleep disorder (somnambulism) from his grandmal epilepsy. We changed his anticonvulsive pharmacological therapy and introduced an individual psychotherapy ("Katathymes Bilderleben"). This kind of psychotherapy is applied for the first time as a therapy for somnambulism. By using this therapeutic concept we cured our patient from his symptoms. PMID:1775145

  2. The Performance of Children with Mental Health Disorders on the ADOS-G: A Question of Diagnostic Utility

    ERIC Educational Resources Information Center

    Sikora, Darryn M.; Hartley, Sigan L.; McCoy, Robin; Gerrard-Morris, Aimee E.; Dill, Kameron

    2008-01-01

    Over the past few decades, the reported number of children identified as having one of the Autism Spectrum Disorders (ASD) has increased exponentially. One proposed reason for the dramatic increase in the prevalence of ASD is diagnostic substitution, whereby children with other disorders incorrectly receive a diagnosis of ASD. Little research has…

  3. Distinguishing Myasthenia Exacerbation from Severe Preeclampsia: A Diagnostic and Therapeutic Challenge

    PubMed Central

    Sikka, Pooja; Aggarwal, Neelam; Suri, Vanita; Bhagat, Hement

    2015-01-01

    Myasthenia gravis is an acquired, autoimmune neuromuscular disorder characterized by voluntary muscle weakness. Pregnant patients may have disease exacerbation, respiratory failure, crisis, adverse drug reaction, surprisingly enough remission at any trimester or postnatal period. Concurrence of myasthenia gravis with severe preeclampsia is a dreadful condition raising diagnostic and management issues. We hereby discuss a case of myasthenic woman who developed severe preeclampsia during pregnancy and presented in last trimester with clinical features mimicking signs of impending eclampsia. Keeping in mind the history of myasthenia gravis, urgent neurology review taken and diagnosis of myasthenic exacerbation was entertained. She responded well to injection neostigmine and in this way inadvertent use of magnesium sulphate was avoided. PMID:26436003

  4. Prepubertal and early adolescent bipolar I disorder: review of diagnostic validation by Robins and Guze criteria.

    PubMed

    Geller, Barbara; Tillman, Rebecca

    2005-01-01

    The phenomenology of pediatric bipolar disorder is a controversial topic in the field of child psychiatry. The first National Institute of Mental Health-funded study in the field, Phenomenology and Course of Pediatric Bipolar Disorders, selected a conservative phenotype for credibility in a contentious field. To address the problems of differentiation of mania from attention-deficit/hyperactivity disorder (ADHD) and of the ubiquitous manifestation of irritability across child psychiatry diagnoses, a prepubertal and early adolescent bipolar I disorder phenotype (PEA-BP) was defined by DSM-IV bipolar I disorder (manic or mixed phase) with elation and/or grandiosity as one criterion. This criterion avoided diagnosing mania by symptoms that overlapped with those of ADHD (e.g., hyperactivity, distractibility) and ensured that subjects had at least 1 of the cardinal symptoms of mania (i.e., elation or grandiosity). This definition was analogous to the requirement that DSM-IV major depressive disorder include at least 1 of the cardinal symptoms of depression (i.e., sad mood or anhedonia). Subjects were 93 children with a mean +/- SD age of 10.9 +/- 2.6 years. Validation of the phenotype was shown according to Robins and Guze criteria: unique symptoms that did not overlap with those of ADHD, stability of the diagnosis (did not become ADHD or other disorders on follow-up) as shown by a 4-year prospective longitudinal study, significantly higher familial aggregation of bipolar disorder in relatives of PEA-BP versus ADHD and healthy control probands, and family-based linkage disequilibrium of the brain-derived neurotrophic factor Val66 allele in PEA-BP probands. Furthermore, PEA-BP resembled the most severe adult bipolar disorder, manifested by a chronic, ultradian-cycling, mixed manic, psychotic course. A conservatively defined child mania phenotype met the Robins and Guze criteria for establishing diagnostic validity in psychiatric illness. Continuities between PEA-BP and

  5. Comparing Symptoms of Autism Spectrum Disorders Using the Current "DSM-IV-TR" Diagnostic Criteria and the Proposed "DSM-V" Diagnostic Criteria

    ERIC Educational Resources Information Center

    Worley, Julie A.; Matson, Johnny L.

    2012-01-01

    The American Psychiatric Association has proposed major revisions for the diagnostic category encompassing Autism Spectrum Disorders (ASD), which will reportedly increase the specificity and maintain the sensitivity of diagnoses. As a result, the aim of the current study was to compare symptoms of ASD in children and adolescents (N = 208) who met…

  6. Recurrent Idiopathic Catatonia: Implications beyond the Diagnostic and Statistical Manual of Mental Disorders 5th Edition.

    PubMed

    Caroff, Stanley N; Hurford, Irene; Bleier, Henry R; Gorton, Gregg E; Campbell, E Cabrina

    2015-08-31

    We describe a case of recurrent, life-threatening, catatonic stupor, without evidence of any associated medical, toxic or mental disorder. This case provides support for the inclusion of a separate category of "unspecified catatonia" in the Diagnostic and Statistical Manual of Mental Disorders 5th edition (DSM-5) to be used to classify idiopathic cases, which appears to be consistent with Kahlbaum's concept of catatonia as a distinct disease state. But beyond the limited, cross-sectional, syndromal approach adopted in DSM-5, this case more importantly illustrates the prognostic and therapeutic significance of the longitudinal course of illness in differentiating cases of catatonia, which is better defined in the Wernicke-Kleist-Leonhard classification system. The importance of differentiating cases of catatonia is further supported by the efficacy of antipsychotics in treatment of this case, contrary to conventional guidelines.

  7. Predicting the Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition): The Mystery of How to Constrain Unchecked Growth.

    PubMed

    Blashfield, Roger K; Fuller, A Kenneth

    2016-06-01

    Twenty years ago, slightly after the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition was published, we predicted the characteristics of the future Diagnostic and Statistical Manual of Mental Disorders (fifth edition) (). Included in our predictions were how many diagnoses it would contain, the physical size of the Diagnostic and Statistical Manual of Mental Disorders (fifth edition), who its leader would be, how many professionals would be involved in creating it, the revenue generated, and the color of its cover. This article reports on the accuracy of our predictions. Our largest prediction error concerned financial revenue. The earnings growth of the DSM's has been remarkable. Drug company investments, insurance benefits, the financial need of the American Psychiatric Association, and the research grant process are factors that have stimulated the growth of the DSM's. Restoring order and simplicity to the classification of mental disorders will not be a trivial task.

  8. Comprehensive examination of the trans-diagnostic cognitive behavioral model of eating disorders in males.

    PubMed

    Dakanalis, Antonios; Timko, C Alix; Clerici, Massimo; Zanetti, M Assunta; Riva, Giuseppe

    2014-01-01

    The Trans-diagnostic Model (TM) of eating pathology describes how one or more of four hypothesized mechanisms (i.e., mood intolerance, core low self-esteem, clinical perfectionism and interpersonal difficulties) may interrelate with each other and with the core psychopathology of eating disorders (i.e., over-evaluation of weight and shape) to maintain the disordered behaviors. Although a cognitive behavioral treatment based on the TM has shown to be effective in treating eating disorders, the model itself has undergone only limited testing. This is the first study to both elaborate and test the validity of the TM in a large sample (N=605) of undergraduate men. Body mass index was controlled within structural equation modeling analyses. Although not all expected associations for the maintenance variables were significant, overall the validity of the model was supported. Concern about shape and weight directly led to exercise behaviors. There was a direct path from binge eating to exercise and other forms of compensatory behaviors (i.e., purging); but no significant path from restriction to binge eating. Of the maintaining factors, mood intolerance was the only maintaining variable directly linked to men's eating disorder symptoms. The other three maintaining factors of the TM indirectly impacted restriction through concerns about shape and weight, whereas only interpersonal difficulties predicted low self-esteem and binge eating. Potential implications for understanding and targeting eating disturbances in men are discussed. PMID:24411752

  9. The Challenges for Primary Caregivers of Adolescents With Disruptive Behavior Disorders

    PubMed Central

    Oruche, Ukamaka M.; Draucker, Claire Burke; Al-Khattab, Halima; Cravens, Hillary A.; Lowry, Brittany; Lindsey, Laura M.

    2015-01-01

    Adolescents with disruptive behavior disorders (DBD), including oppositional defiant disorder and conduct disorder, present unique challenges for their families. Although, most empirically supported treatments for DBD are family-based, the emphasis is typically on the behavior of the child rather than on the life challenges and resultant distress experienced by the family members. Fifteen families of adolescents with DBD were recruited from a large publicly funded Community Mental Health Center. For this report, data from in-depth interviews with the adolescents’ primary caregivers were analyzed by standard content analytic procedures to describe the challenges they experienced living with and caring for the adolescents. The primary caregivers reported that the challenges were overwhelming, demanding, and unrelenting. The two most salient challenges were (a) managing the adolescents’ aggressive, defiant, and deceitful behaviors, and (b) interacting frequently with a number of child-serving agencies. A number of clinical implications are drawn from these findings. PMID:25504213

  10. Brief Report: An Exploratory Study Comparing Diagnostic Outcomes for Autism Spectrum Disorders under DSM-IV-TR with the Proposed DSM-5 Revision

    ERIC Educational Resources Information Center

    Gibbs, Vicki; Aldridge, Fiona; Chandler, Felicity; Witzlsperger, Ellen; Smith, Karen

    2012-01-01

    The proposed revision for Autism spectrum disorders (ASDs) in the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5) represents a shift from the Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition, Text Revision (DSM-IV-TR). As the proposed DSM-5 criteria require a higher minimum number of symptoms to be…

  11. Diagnostic Role of Captopril Challenge Test in Korean Subjects with High Aldosterone-to-Renin Ratios

    PubMed Central

    Kim, Jung Hee; Park, Kyeong Seon; Hong, A Ram; Shin, Chan Soo; Kim, Seong Yeon

    2016-01-01

    Background Diagnosis of primary aldosteronism (PA) begins with aldosterone-to-renin ratio (ARR) measurement followed by confirmative tests. However, the ARR has high false positive rates which led to unnecessary confirmatory tests. Captopril challenge test (CCT) has been used as one of confirmatory tests, but the accuracy of it in the diagnosis of PA is still controversial. We aimed to examine the clinical efficacy of CCT as a post-screening test in PA. Methods In a prospective study, we enrolled subjects with suspected PA who had hypertension and ARR >20 (ng/dL)/(ng/mL/hr). Sixty-four patients who underwent both the saline infusion test and the CCT were included. Results The diagnostic performance of plasma aldosterone concentration (PAC) post-CCT was greater than that of ARR post-CCT and ARR pre-CCT in PA (area under the curve=0.956, 0.797, and 0.748, respectively; P=0.001). A cut-off value of 13 ng/dL showed the highest diagnostic odds ratio considering PAC post-CCT at 60 and 90 minutes. A PAC post-CCT of 19 ng/dL had a specificity of 100%, which can be used as a cut-off value for the confirmative test. Determining the diagnostic performance of PAC post-CCT at 90 minutes was sufficient for PA diagnosis. Subjects with PAC post-CCT at 90 minutes <13 ng/dL are less likely to have PA, and those with PAC post-CCT at 90 minutes ≥13 but <19 ng/dL should undergo secondary confirmatory tests. Conclusion The CCT test may be a reliable post-screening test to avoid the hospitalization in the setting of falsely elevated ARR screening tests. PMID:27184013

  12. Anatomic and Diagnostic Challenges of C-Shaped Root Canal System

    PubMed Central

    Raisingani, Deepak; Gupta, Shailendra; Mital, Prachi

    2014-01-01

    ABSTRACT Successful root canal treatment depends on the thorough management of the canal anatomy. The use of periapical radiographs is essential to identify and monitor the canal's morphological variations. The C-shaped single canaled man-dibular 2nd molar probably requires a different regimen of treatment from the two rooted, three canaled version, as it is rare. Because of the importance of its true diagnosis and treatment, a comprehensive review of published information and investigations about it in addition to approaches for its treatment is necessary. In this article, a detailed review and three case reports with different C-shaped canal configurations have been described which were successfully negotiated, pre­pared and obturated. How to cite this article: Raisingani D, Gupta S, Mital P, Khullar P. Anatomic and Diagnostic Challenges of C-Shaped Root Canal System. Int J Clin Pediatr Dent 2014;7(1):35-39. PMID:25206235

  13. Diagnostic and surgical challenges in resection of cerebellar angle tumors and acoustic neuromas

    PubMed Central

    Patel, Neal; Wilkinson, Jared; Gianaris, Nicholas; Cohen-Gadol, Aaron A.

    2012-01-01

    Background: Cerebellopontine angle (CPA) lesions can mimic more common tumors through nonspecific symptoms and radiologic findings. Methods: To increase the preoperative diagnostic accuracy for CPA pathologies, the authors review the full spectrum of reported CPA lesions. Results: A wide spectrum of lesions mimics vestibular schwannoma (VS) in the space of the CPA. Conclusion: The presence of any suspicious clinical and radiographic finding uncharacteristic of VS makes it necessary to maintain a broad differential diagnosis list. Differentiation of CPA lesions, although challenging, may be best achieved by incorporating the clinical history, physical exam findings, audiometry results, and multi-modality imaging studies to construct a comprehensive preoperative knowledge of the lesion. This knowledge will allow improved operative execution and outcomes. PMID:22439108

  14. Intestinal pseudo-obstruction in patients with systemic lupus erythematosus: A real diagnostic challenge

    PubMed Central

    García López, Carlos Alberto; Laredo-Sánchez, Fernando; Malagón-Rangel, José; Flores-Padilla, Miguel G; Nellen-Hummel, Haiko

    2014-01-01

    Intestinal pseudo-obstruction secondary to systemic lupus erythematosus (SLE) is a rare syndrome described in recent decades. There are slightly over 30 published cases in the English language literature, primarily associated with renal and hematological disease activity. Its presentation and evolution are a diagnostic challenge for the clinician. We present four cases of intestinal pseudo-obstruction due to lupus in young Mexican females. One patient had a previous diagnosis of SLE and all presented with a urinary tract infection of varying degrees of severity during their evolution. We consider that recognition of the disease is of vital importance because it allows for establishing appropriate management, leading to a better prognosis and avoiding unnecessary surgery and complications. PMID:25170234

  15. Intestinal pseudo-obstruction in patients with systemic lupus erythematosus: a real diagnostic challenge.

    PubMed

    García López, Carlos Alberto; Laredo-Sánchez, Fernando; Malagón-Rangel, José; Flores-Padilla, Miguel G; Nellen-Hummel, Haiko

    2014-08-28

    Intestinal pseudo-obstruction secondary to systemic lupus erythematosus (SLE) is a rare syndrome described in recent decades. There are slightly over 30 published cases in the English language literature, primarily associated with renal and hematological disease activity. Its presentation and evolution are a diagnostic challenge for the clinician. We present four cases of intestinal pseudo-obstruction due to lupus in young Mexican females. One patient had a previous diagnosis of SLE and all presented with a urinary tract infection of varying degrees of severity during their evolution. We consider that recognition of the disease is of vital importance because it allows for establishing appropriate management, leading to a better prognosis and avoiding unnecessary surgery and complications.

  16. INTEGRATING NEXT-GENERATION SEQUENCING INTO MEDICAL DIAGNOSTICS--A SNAPSHOT OF NORMATIVE CHALLENGES.

    PubMed

    Molnár-Gábor, Fruzsina

    2014-12-01

    Next-Generation Sequencing has been used as a diagnostic tool in an increasing manner. Compared to conventional medical interventions, NGS, as a medical intervention, has its own special characteristics. NGS allows us to obtain a multitude of additional findings. However, their correct interpretation requires molecular biological expertise and is still unknown at the time of the sampling. These factors, when applying NGS, lead to a dynamic process of informational interference with the patients' rights. The physician-patient relationship that becomes successive, is loosened by involving non-physician researchers in the validation of the findings and by the fact that genetic data also gives information about the relatives of the patient. Moreover, dealing with risk information lays the burden on the patients and strengthens their responsibility. These challenges increase in international translational medicine and they demand solutions for the protection of the patients' rights.

  17. Pelvic radiculopathies, lumbosacral plexopathies, and neuropathies in oncologic disease: a multidisciplinary approach to a diagnostic challenge

    PubMed Central

    Berry, Jonathan; Nisbet, Angus; Bloomfield, David; Burkill, Guy

    2013-01-01

    Abstract The purpose of this article is to familiarize the reader with the anatomy of the major pelvic nerves and the clinical features of associated lumbosacral plexopathies. To demonstrate this we illustrate several cases of malignant lumbosacral plexopathy on computed tomography, magnetic resonance imaging, and positron emission tomography/computed tomography. A new lumbosacral plexopathy in a patient with a prior history of abdominal or pelvic malignancy is usually of malignant etiology. Biopsies may be required to definitively differentiate tumour from posttreatment fibrosis, and in cases of inconclusive sampling or where biopsies are not possible, follow-up imaging may be necessary. In view of the complexity of clinical findings often confounded by a history of prior surgery and/or radiotherapy, a multidisciplinary approach between oncologists, neurologists, and radiologists is often required for what can be a diagnostic challenge. PMID:24433993

  18. Urothelial carcinoma with oncocytic features: an extremely rare case presenting a diagnostic challenge in urine cytology.

    PubMed

    Tajima, Shogo

    2015-01-01

    Recognizing histological variants in urothelial carcinoma (UC) is important because some may be associated with different clinical outcomes and/or therapeutic approaches; being aware of unusual histological variants may also be crucial in preventing diagnostic misinterpretations. Histological variants based on cytoplasmic features, such as clear-cell, plasmacytoid, rhabdoid, and lipoid-rich variants, are described in invasive UC; however, these cytoplasmic features are not formally defined and not usually encountered in non-invasive UC. Oncocytic cytoplasm has not been well described in either invasive or non-invasive UC. Herein, we report an exceedingly rare case of UC with oncocytic features arising in the right renal pelvis, which presented a diagnostic challenge in urine cytology due to the relatively low nuclear-to-cytoplasmic ratio; however, it could definitively be diagnosed using histological specimens. UC diagnosis is based on the presence of papillary architecture and widespread p53 nuclear accumulation, suggesting malignancy. An oncocytic tumor is generally considered to be not actively dividing, as shown by the low Ki-67 labeling index in this case. In spite of the low proliferative activity, the possibility of intravesicle recurrence (IVR) should be considered since positive preoperative cytology of upper tract UC is a risk factor for IVR after nephroureterectomy. PMID:26339439

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

    PubMed

    Luthra, Rajyalakshmi; Chen, Hui; Roy-Chowdhuri, Sinchita; Singh, R Rajesh

    2015-01-01

    The application of next-generation sequencing (NGS) to characterize cancer genomes has resulted in the discovery of numerous genetic markers. Consequently, the number of markers that warrant routine screening in molecular diagnostic laboratories, often from limited tumor material, has increased. This increased demand has been difficult to manage by traditional low- and/or medium-throughput sequencing platforms. Massively parallel sequencing capabilities of NGS provide a much-needed alternative for mutation screening in multiple genes with a single low investment of DNA. However, implementation of NGS technologies, most of which are for research use only (RUO), in a diagnostic laboratory, needs extensive validation in order to establish Clinical Laboratory Improvement Amendments (CLIA) and College of American Pathologists (CAP)-compliant performance characteristics. Here, we have reviewed approaches for validation of NGS technology for routine screening of tumors. We discuss the criteria for selecting gene markers to include in the NGS panel and the deciding factors for selecting target capture approaches and sequencing platforms. We also discuss challenges in result reporting, storage and retrieval of the voluminous sequencing data and the future potential of clinical NGS. PMID:26473927

  20. Antibody Responses to Mycobacterial Antigens in Children with Tuberculosis: Challenges and Potential Diagnostic Value

    PubMed Central

    Ziegenbalg, Anke

    2012-01-01

    The identification of easily detectable biomarkers for active tuberculosis (TB) is a global health priority. Such biomarkers would be of particular value in childhood TB, which poses greater diagnostic challenges than adult TB. Serum antibodies can be detected by simple formats that provide extremely rapid results. However, attempts to develop accurate serodiagnostic tests for TB have been unsuccessful. Whereas antibody responses to mycobacterial antigens in adult TB have been studied extensively and reviewed, the same cannot be said for serologic data in pediatric populations. Here we appraise studies on serological responses in childhood TB and discuss findings and limitations in the context of the developing immune system, the age range, and the spectrum of TB manifestations. We found that the antibody responses to mycobacterial antigens in childhood TB can vary widely, with sensitivities and specificities ranging from 14% to 85% and from 86% to 100%, respectively. We conclude that the limitations in serodiagnostic studies of childhood TB are manifold, thereby restricting the interpretation of currently available data. Concerns about the methodology used in published studies suggest that conclusions about the eventual value of serodiagnosis cannot be made at this time. However, the available data suggest a potential adjunctive value for serology in the diagnosis of childhood TB. Despite the difficulties noted in this field, there is optimism that the application of novel antigens and the integration of those factors which contribute to the serological responses in childhood TB can lead to useful future diagnostics. PMID:23100476

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

    PubMed

    Luthra, Rajyalakshmi; Chen, Hui; Roy-Chowdhuri, Sinchita; Singh, R Rajesh

    2015-01-01

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

  2. Multifocal Nodular Fatty Infiltration of the Liver: A Case Report of a Challenging Diagnostic Problem

    PubMed Central

    Tebala, Giovanni Domenico; Jwad, Anees; Khan, Abdul Quyyum; Long, Ervine; Sissons, Guy

    2016-01-01

    Patient: Female, 59 Final Diagnosis: Multifocal nodular fatty infiltration of the liver Symptoms: None Medication: — Clinical Procedure: Laparoscopy Specialty: Surgery Objective: Rare disease Background: Fatty infiltration of the liver usually has a diffuse pattern, but in very rare cases it presents as multiple focal lesions of the liver, mimicking metastases. A correct diagnosis is crucial to address prognosis and eventual treatment. Case Report: We present the case of a completely fit and asymptomatic patient referred for multiple bilateral liver metastases of unknown origin. She had no previous history of malignancy. She was extensively investigated with all locally available methods, including ultrasound scan, computed tomography, magnetic resonance imaging, upper and lower gastrointestinal endoscopy, and diagnostic laparoscopy. Imaging-guided biopsy and laparoscopic biopsy confirmed the diagnosis of multifocal fatty infiltration of the liver. Conclusions: The diagnosis of this condition can be challenging and an accurate initial clinical history must be part of a thorough clinical examination. Multimodal imaging is mandatory, but diagnostic laparoscopy with direct macrobiopsy may be necessary to clear all doubts. PMID:27017525

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

    PubMed Central

    Luthra, Rajyalakshmi; Chen, Hui; Roy-Chowdhuri, Sinchita; Singh, R. Rajesh

    2015-01-01

    The application of next-generation sequencing (NGS) to characterize cancer genomes has resulted in the discovery of numerous genetic markers. Consequently, the number of markers that warrant routine screening in molecular diagnostic laboratories, often from limited tumor material, has increased. This increased demand has been difficult to manage by traditional low- and/or medium-throughput sequencing platforms. Massively parallel sequencing capabilities of NGS provide a much-needed alternative for mutation screening in multiple genes with a single low investment of DNA. However, implementation of NGS technologies, most of which are for research use only (RUO), in a diagnostic laboratory, needs extensive validation in order to establish Clinical Laboratory Improvement Amendments (CLIA) and College of American Pathologists (CAP)-compliant performance characteristics. Here, we have reviewed approaches for validation of NGS technology for routine screening of tumors. We discuss the criteria for selecting gene markers to include in the NGS panel and the deciding factors for selecting target capture approaches and sequencing platforms. We also discuss challenges in result reporting, storage and retrieval of the voluminous sequencing data and the future potential of clinical NGS. PMID:26473927

  4. Expanding Newborn Screening for Lysosomal Disorders: Opportunities and Challenges

    ERIC Educational Resources Information Center

    Waggoner, Darrel J.; Tan, Christopher A.

    2011-01-01

    Newborn screening (NBS), since its implementation in the 1960s, has traditionally been successful in reducing mortality and disability in children with a range of different conditions. Lysosomal storage disorders (LSD) are a heterogeneous group of inherited metabolic diseases that result from lysosomal dysfunction. Based on available treatment and…

  5. How many different ways do patients meet the diagnostic criteria for major depressive disorder?

    PubMed

    Zimmerman, Mark; Ellison, William; Young, Diane; Chelminski, Iwona; Dalrymple, Kristy

    2015-01-01

    There are 227 possible ways to meet the symptom criteria for major depressive disorder (MDD). However, symptom occurrence is not random, and some symptoms co-occur significantly beyond chance. This raises the questions of whether all of the theoretically possible different ways of meeting the MDD criteria actually occur in patients, and whether some combinations of criteria are much more common than others. More than 1500 patients who met DSM-IV criteria for MDD at the time of the evaluation were interviewed with semi-structured interviews. The patients met the MDD symptom criteria in 170 different ways. Put another way, one-quarter (57/227) of the criteria combinations did not occur. The most frequent combination was the presence of all 9 criteria (10.1%, n=157). Nine combinations (all 9 criteria, 3 of the 8-criterion combinations, 4 of the 7-criterion combinations, and one 6-criterion combination) were present in more than 2% of the patients, together accounting for more than 40% of the diagnoses. The polythetic definition of MDD, which requires a minimum number of criteria from a list, results in significant diagnostic heterogeneity because there are many different ways to meet criteria. While there is significant heterogeneity amongst patients meeting the MDD diagnostic criteria, a relatively small number of combinations could be considered as diagnostic prototypes as they account for more than 40% of the patients diagnosed with MDD. PMID:25266848

  6. Revisiting Classification of Eating Disorders-toward Diagnostic and Statistical Manual of Mental Disorders-5 and International Statistical Classification of Diseases and Related Health Problems-11.

    PubMed

    Goyal, Shrigopal; Balhara, Yatan Pal Singh; Khandelwal, S K

    2012-07-01

    Two of the most commonly used nosological systems- International Statistical Classification of Diseases and Related Health Problems (ICD)-10 and Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV are under revision. This process has generated a lot of interesting debates with regards to future of the current diagnostic categories. In fact, the status of categorical approach in the upcoming versions of ICD and DSM is also being debated. The current article focuses on the debate with regards to the eating disorders. The existing classification of eating disorders has been criticized for its limitations. A host of new diagnostic categories have been recommended for inclusion in the upcoming revisions. Also the structure of the existing categories has also been put under scrutiny.

  7. Convergence between DSM-IV-TR and DSM-5 diagnostic models for personality disorder: evaluation of strategies for establishing diagnostic thresholds.

    PubMed

    Morey, Leslie C; Skodol, Andrew E

    2013-05-01

    The Personality and Personality Disorders Work Group for the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) recommended substantial revisions to the personality disorders (PDs) section of DSM-IV-TR, proposing a hybrid categorical-dimensional model that represented PDs as combinations of core personality dysfunctions and various configurations of maladaptive personality traits. Although the DSM-5 Task Force endorsed the proposal, the Board of Trustees of the American Psychiatric Association (APA) did not, placing the Work Group's model in DSM-5 Section III ("Emerging Measures and Models") with other concepts thought to be in need of additional research. This paper documents the impact of using this alternative model in a national sample of 337 patients as described by clinicians familiar with their cases. In particular, the analyses focus on alternative strategies considered by the Work Group for deriving decision rules, or diagnostic thresholds, with which to assign categorical diagnoses. Results demonstrate that diagnostic rules could be derived that yielded appreciable correspondence between DSM-IV-TR and proposed DSM-5 PD diagnoses-correspondence greater than that observed in the transition between DSM-III and DSM-III-R PDs. The approach also represents the most comprehensive attempt to date to provide conceptual and empirical justification for diagnostic thresholds utilized within the DSM PDs.

  8. Research Diagnostic Criteria for Temporomandibular Disorders: Evaluation of Psychometric Properties of the Axis II Measures

    PubMed Central

    Ohrbach, Richard; Turner, Judith A.; Sherman, Jeffrey J.; Mancl, Lloyd A.; Truelove, Edmond L.; Schiffman, Eric L.; Dworkin, Samuel F.

    2011-01-01

    AIMS To evaluate the psychometric properties of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) biobehavioral (Axis II) screening instruments. METHODS Participants with Axis I TMD diagnoses (n=626) completed the Axis II instruments (Depression, Nonspecific Physical Symptoms, Graded Chronic Pain) and other instruments assessing psychological distress, pain, and disability at three study sites. Internal consistency, temporal stability, and convergent/discriminant validity of the Axis II measures were assessed. To assess criterion validity of Depression and Nonspecific Physical Symptoms instruments as screeners, 170 participants completed a structured psychiatric diagnostic interview. RESULTS The Axis II instruments showed very good-excellent internal consistency (Cronbach’s alpha = 0.80 – 0.95). Their convergent (correlation range 0.3–0.9) and discriminant (range 0.0–0.6) validity were generally supported, although Nonspecific Physical Symptoms was more strongly associated with depressive than with somatic symptoms. Temporal stability was high for characteristic pain intensity (Lin’s correlation concordance coefficient [CCC] = 0.91), interference (CCC = 0.89), and chronic pain grade (weighted kappa = 0.87), and fair-good for Depression and Nonspecific Physical Symptoms (CCC = 0.63 – 0.78). The Depression instrument normal vs moderate-severe cut-point was good at identifying current-year DSM-IV depression and dysthymia diagnoses (sensitivity 87%, specificity 53%). Nonspecific Physical Symptoms did not have high utility for detecting psychiatric disorders (sensitivity 86%, specificity 31%). CONCLUSION The Axis-II Depression and Graded Chronic Pain instruments have clinically relevant and acceptable psychometric properties for reliability and validity and utility as instruments for identifying TMD patients with high levels of distress, pain, and disability that can interfere with treatment response and course of Axis I disorders

  9. Gender Effects on Challenging Behaviors in Children with Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Kozlowski, Alison M.; Matson, Johnny L.; Rieske, Robert D.

    2012-01-01

    Challenging behaviors are extremely prevalent within the autism spectrum disorder (ASD) population. To date, numerous factors affecting the rates of challenging behaviors within the ASD population have been examined including age, gender, ethnicity, and intellectual functioning. Controversy has arisen in regard to the effect of gender on…

  10. Using Antecedent Exercise to Decrease Challenging Behavior in Boys with Developmental Disabilities and an Emotional Disorder

    ERIC Educational Resources Information Center

    Cannella-Malone, Helen I.; Tullis, Christopher A.; Kazee, Aline R.

    2011-01-01

    Some individuals with developmental disabilities and emotional disorders may engage in challenging behavior that can result in the use of aversive procedures and/or seclusion from typically developing peers. They may also engage in low levels of physical activity. One way to decrease challenging behaviors while increasing overall levels of…

  11. Tourette's: syndrome, disorder or spectrum? Classificatory challenges and an appraisal of the DSM criteria.

    PubMed

    Robertson, Mary May; Eapen, Valsamma

    2014-10-01

    The fifth version of the Diagnostic and statistical manual of mental disorders (DSM-5) was released in May 2013 after 14 years of development and almost two decades after the last edition DSM-IV was published in 1994. We review the DSM journey with regards to Tourette Syndrome from the original publication of DSM 1 in 1952 till date. In terms of changes in DSM 5, the major shift has come in the placement of Tourette Syndrome under the 'Neurodevelopmental Disorders' alongside other disorders with a developmental origin. This review provides an overview of the changes in DSM-5 highlighting key points for clinical practice and research along with a snap shot of the current use of DSM as a classificatory system in different parts of the world and suggestions for improving the subtyping and the diagnostic confidence.

  12. The Introduction of a Diagnostic Decision Support System (DXplain™) into the workflow of a teaching hospital service can decrease the cost of service for diagnostically challenging Diagnostic Related Groups (DRG)s

    PubMed Central

    Elkin, Peter L.; Liebow, Mark; Bauer, Brent A.; Chaliki, Swarna; Wahner-Roedler, Dietlind; Bundrick, John; Lee, Mark; Brown, Steven H.; Froehling, David; Bailey, Kent; Famiglietti, Kathleen; Kim, Richard; Hoffer, Ed; Feldman, Mitchell; Barnett, G. Octo

    2010-01-01

    Background In an era of short inpatient stays, residents may overlook relevant elements of the differential diagnosis as they try to evaluate and treat patients. However, if a resident’s first principal diagnosis is wrong, the patient’s appropriate evaluation and treatment may take longer, cost more, and lead to worse outcomes. A diagnostic decision support system may lead to the generation of a broader differential diagnosis that more often includes the correct diagnosis, permitting a shorter, more effective, and less costly hospital stay. Methods We provided residents on General Medicine services access to DXplain, an established computer-based diagnostic decision support system, for 6 months. We compared charges and cost of service for diagnostically challenging cases seen during the fourth through sixth month of access to DXplain (intervention period) to control cases seen in the six months before the system was made available. Results 564 cases were identified as diagnostically challenging by our criteria during the intervention period along with 1173 cases during the control period. Total charges were $1281 lower (P=.006), Medicare Part A charges $1032 lower (p=.006) and cost of service $990 lower (P=.001) per admission in the intervention cases than in control cases. Conclusions Using DXplain on all diagnostically challenging cases might save our medical center over $2,000,000 a year on the General Medicine Services alone. Using clinical diagnostic decision support systems may improve quality and decrease cost substantially at teaching hospitals. PMID:20951080

  13. Diffuse sclerosing variant of thyroid papillary carcinoma: diagnostic challenges occur with Hashimoto's thyroiditis.

    PubMed

    Chen, Chien-Chin; Chen, Wen-Chung; Peng, Shu-Ling; Huang, Shih-Ming

    2013-06-01

    Diffuse sclerosing papillary thyroid carcinoma (DSPTC) is a relatively rare variant of papillary thyroid carcinoma with distinct histological features, radiological characteristics, and biological aggressiveness. Compared with conventional papillary thyroid carcinoma, DSPTC is characterized by scattered microscopic tumor islands, diffuse fibrosis, calcification, and abundant lymphocytic aggregation. A preoperative diagnosis is challenging in the absence of nodules and scanty fine needle aspiration cytology samples. We describe a unique DSPTC patient, an 18-year-old woman who presented with a neck mass that grew slowly for 2 years. The palpable neck mass was nontender, well defined, firm, and unmovable. Laboratory studies showed normal thyroid function and positive autoimmune markers: antithyroglobulin antibody = 1:1600 and antimicrosomal antibody = 1:1600. A neck ultrasound showed diffusely prominent microcalcifications with one small vague nodule. Hashimoto's thyroiditis with an accompanying malignancy was suspected. Based on the result of intraoperative pathology reports, the patient was given a total thyroidectomy. Lymph node dissection and histological analysis revealed bilateral DSPTC in addition to lymphocytic thyroiditis in nonmalignant areas of the thyroid. Clinical and histological diagnostic challenges usually occur when DSPTC presents with a diffuse thyroid enlargement, dispersed microscopic tumor islands (frequently without mass formation), extensive fibrosis, and abundant lymphocytic infiltration mimicking thyroiditis.

  14. Refining the phenotype of borderline personality disorder: Diagnostic criteria and beyond.

    PubMed

    Hallquist, Michael N; Pilkonis, Paul A

    2012-07-01

    Borderline personality disorder (BPD) is a heterogeneous disorder, and previous analyses have parsed its phenotype in terms of subtypes or underlying traits. We refined the BPD construct by testing a range of latent variable models to ascertain whether BPD is composed of traits, latent classes, or both. We also tested whether subtypes of BPD could be distinguished by anger, aggressiveness, antisocial behavior, and mis-trustfulness, additional putative indicators drawn from Kernberg's (1967, 1975) theory of BPD. In a mixed clinical and nonclinical sample (N = 362), a factor mixture model consisting of two latent classes (symptomatic and asymptomatic) and a single severity dimension fit the BPD criteria, as defined by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), data better than latent class or factor analytic approaches. In the second analytic phase, finite mixture modeling of the symptomatic latent class (n = 100) revealed four BPD subtypes: angry/aggressive, angry/mistrustful, poor identity/low anger, and prototypical. Our results support a hybrid categorical-dimensional model of the BPD DSM-IV criteria. The BPD subtypes emerging from this model have important implications for treatment and etiological research.

  15. Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population.

    PubMed

    Al-Mamari, Watfa; Al-Saegh, Abeer; Al-Kindy, Adila; Bruwer, Zandre; Al-Murshedi, Fathiya; Al-Thihli, Khalid

    2015-08-01

    Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27% of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies. PMID:25703031

  16. An investigation of the validity of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition avoidant personality disorder construct as a prototype category and the psychometric properties of the diagnostic criteria.

    PubMed

    Hummelen, Benjamin; Wilberg, Theresa; Pedersen, Geir; Karterud, Sigmund

    2006-01-01

    This study investigated several aspects of the validity of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition avoidant personality disorder (APD) construct, with emphasis on the psychometric properties of the diagnostic criteria and the prototype nature of the construct. A sample of 1,058 patients from the Norwegian Network of Psychotherapeutic Day Hospitals was examined by means of exploratory factor analysis, correlation, and diagnostic efficiency statistics, chi(2) analysis, and frequency distribution. The results indicated that APD is a 1-dimensional construct with good internal consistency. The criteria had acceptable diagnostic efficiency; criterion 3 performed poorest. Number of APD criteria showed no distinct threshold between No-APD and patients with APD. Sixty-two different combinations of any 4 APD criteria occurred. It can be concluded that the prototype model fitted the data well and that the APD diagnostic criteria perform well in the current classification system. The Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition hierarchy of criteria was not supported.

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

    PubMed

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

    2012-11-01

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

  18. A critical view of transgender health care in Germany: Psychopathologizing gender identity - Symptom of 'disordered' psychiatric/psychological diagnostics?

    PubMed

    Güldenring, Annette

    2015-01-01

    After explaining the essential trans* terminology, I offer a short historical overview of the way health care has dealt with the subject of gender, trans* and health in different times. In the third section, I compare the world's most important diagnostic manuals, namely the International statistical classification of diseases and related health problems (ICD) and the Diagnostic and statistical manual of mental disorders (DSM), i.e. their criteria for 'gender identity disorders' (ICD-10) and 'gender dysphoria' (DSM-5). The fourth section branch out the factors which influence every diagnostic conception - of no matter whom - in the health care system. The last section discusses the implications resulting from this diagnostic dilemma for the health situation of gender nonconforming people. PMID:26569634

  19. A critical view of transgender health care in Germany: Psychopathologizing gender identity - Symptom of 'disordered' psychiatric/psychological diagnostics?

    PubMed

    Güldenring, Annette

    2015-01-01

    After explaining the essential trans* terminology, I offer a short historical overview of the way health care has dealt with the subject of gender, trans* and health in different times. In the third section, I compare the world's most important diagnostic manuals, namely the International statistical classification of diseases and related health problems (ICD) and the Diagnostic and statistical manual of mental disorders (DSM), i.e. their criteria for 'gender identity disorders' (ICD-10) and 'gender dysphoria' (DSM-5). The fourth section branch out the factors which influence every diagnostic conception - of no matter whom - in the health care system. The last section discusses the implications resulting from this diagnostic dilemma for the health situation of gender nonconforming people.

  20. Resistance to treatment in eating disorders: A critical challenge

    PubMed Central

    2013-01-01

    Background Current literature on Eating Disorders (EDs) is devoid of evidence-based findings providing support to effective treatments, mostly for anorexia nervosa (AN). This lack of successful guidelines may play a role in making these disorders even more resistant. In fact, many individuals do not respond to the available treatments and develop an enduring and disabling illness. With this overview we aimed to highlight and discuss treatment resistance in AN – with an in-depth investigation of resistance-related psychological factors. A literature search was conducted on PubMed and PsychINFO; English-language articles published between 1990 and 2013 investigating the phenomenon of resistance to treatment in AN have been considered. Discussion The selected papers have been then grouped into four main thematic areas: denial of illness; motivation to change; maintaining factors and treatment outcome; and therapeutic relationship. Eating symptomatology was found to only partially explain resistance to treatment. The role of duration of illness has been questioned whilst some maintaining factors seemed promising in providing a useful framework for this phenomenon. Emotive and relational aspects have been investigated on their role in resistance as well as therapists’ countertransference. Summary Remarkably there has been little research done on resistance to treatment in the ED field, in spite of its clinical relevance. Motivation, insight and subjective meaning of the illness can be useful tools to manage the resistance phenomenon when coupled with a wider approach. The latter enables the therapists to be aware of their role in the therapeutic alliance through countertransference aspects and to consider the EDs as disorders of the development of both personality and self, entailing severe impairments as regards identity and relationships. PMID:24199620

  1. The relationship between the five-factor model and latent Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition personality disorder dimensions.

    PubMed

    Nestadt, Gerald; Costa, Paul T; Hsu, Fang-Chi; Samuels, Jack; Bienvenu, O Joseph; Eaton, William W

    2008-01-01

    This study compared the latent structure of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition personality disorders (PDs) with the 5-factor model (FFM) of general personality dimensions. The subjects in the study were 742 community-residing individuals who participated in the Hopkins Epidemiology of Personality Disorders Study. Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition PD traits were assessed by psychologists using the International Personality Disorder Examination, and PD dimensions were derived previously using dichotomous factor analysis. The Revised NEO Personality Inventory, a measure of the FFM, was administered to all subjects. The relationship between the 2 sets of personality-related constructs was examined using a construct validity framework and also using Pearson correlation coefficients, multiple linear regression models, and spline regression models. The 5 PD factors each exhibited small to moderate correlations with several NEO dimensions; together, the NEO domain and facet scores explained a fifth to a third of the variance in PD dimensions. Examples of nonlinear relationships between the personality dimensions were identified. There is a modest correspondence between the PD dimensions and FFM traits, and the traits of FFM only partially explain the variance of the PDs. Dimensional measures of general personality may be a suitable alternative to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. Whether additional maladaptive traits would better define the domain of PDs remains an important objective for future research.

  2. Diagnostic Stability of Internet Addiction in Obsessive-compulsive Disorder: Data from a Naturalistic One-year Treatment Study.

    PubMed

    Bipeta, Rajshekhar; Yerramilli, Srinivasa Srr; Karredla, Ashok Reddy; Gopinath, Srinath

    2015-01-01

    Whether internet addiction should be categorized as a primary psychiatric disorder or the result of an underlying psychiatric disorder still remains unclear. In addition, the relationship between internet addiction and obsessive-compulsive disorder remains to be explored. We hypothesized that internet addiction is a manifestation of underlying psychopathology, the treatment of which will improve internet addiction. We enrolled 34 control subjects (with or without internet addiction) and compared them to 38 patients with "pure" obsessive-compulsive disorder (with or without internet addiction). Internet addiction and obsessive-compulsive disorder were diagnosed based on Young's Diagnostic Questionnaire and Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), respectively. Age and Internet Addiction Test scores were comparable in both the control (years: 26.87±6.57; scores: 43.65±11.56) and obsessive-compulsive disorder groups (years: 27.00±6.13 years, p=0.69; scores: 43.47±15.21, p=0.76). Eleven patients with obsessive-compulsive disorder (28.95%) were diagnosed with internet addiction as compared to three control subjects (p=0.039). In the obsessive-compulsive disorder group, no difference in the Yale-Brown Obsessive Compulsive Scale (24.07±3.73 non-internet addiction, 23.64±4.65 internet addiction; p=0.76) score was seen between the internet addiction/obsessive-compulsive disorder and non-internet addiction/obsessive-compulsive disorder groups. As expected, the Internet Addiction Test scores were higher in the internet addiction/obsessive-compulsive disorder group (64.09±9.63) than in the non-internet addiction/obsessive-compulsive disorder group (35.07±6.37; p=0.00). All enrolled patients with obsessive-compulsive disorder were subsequently treated for a period of one year. Treatment of obsessive-compulsive disorder improved Yale-Brown Obsessive Compulsive Scale and Internet Addiction Test scores over time. At 12 months, only

  3. Diagnostic Stability of Internet Addiction in Obsessive-compulsive Disorder: Data from a Naturalistic One-year Treatment Study

    PubMed Central

    Yerramilli, Srinivasa SRR; Karredla, Ashok Reddy; Gopinath, Srinath

    2015-01-01

    Whether internet addiction should be categorized as a primary psychiatric disorder or the result of an underlying psychiatric disorder still remains unclear. In addition, the relationship between internet addiction and obsessive-compulsive disorder remains to be explored. We hypothesized that internet addiction is a manifestation of underlying psychopathology, the treatment of which will improve internet addiction. We enrolled 34 control subjects (with or without internet addiction) and compared them to 38 patients with “pure” obsessive-compulsive disorder (with or without internet addiction). Internet addiction and obsessive-compulsive disorder were diagnosed based on Young’s Diagnostic Questionnaire and Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), respectively. Age and Internet Addiction Test scores were comparable in both the control (years: 26.87±6.57; scores: 43.65±11.56) and obsessive-compulsive disorder groups (years: 27.00±6.13 years, p=0.69; scores: 43.47±15.21, p=0.76). Eleven patients with obsessive-compulsive disorder (28.95%) were diagnosed with internet addiction as compared to three control subjects (p=0.039). In the obsessive-compulsive disorder group, no difference in the Yale-Brown Obsessive Compulsive Scale (24.07±3.73 non-internet addiction, 23.64±4.65 internet addiction; p=0.76) score was seen between the internet addiction/obsessive-compulsive disorder and non-internet addiction/obsessive-compulsive disorder groups. As expected, the Internet Addiction Test scores were higher in the internet addiction/obsessive-compulsive disorder group (64.09±9.63) than in the non-internet addiction/obsessive-compulsive disorder group (35.07±6.37; p=0.00). All enrolled patients with obsessive-compulsive disorder were subsequently treated for a period of one year. Treatment of obsessive-compulsive disorder improved Yale-Brown Obsessive Compulsive Scale and Internet Addiction Test scores over time. At 12 months

  4. Comparing Diagnostic Outcomes of Autism Spectrum Disorder Using DSM-IV-TR and DSM-5 Criteria.

    PubMed

    Harstad, Elizabeth B; Fogler, Jason; Sideridis, Georgios; Weas, Sarah; Mauras, Carrie; Barbaresi, William J

    2015-05-01

    Controversy exists regarding the DSM-5 criteria for ASD. This study tested the psychometric properties of the DSM-5 model and determined how well it performed across different gender, IQ, and DSM-IV-TR sub-type, using clinically collected data on 227 subjects (median age = 3.95 years, majority had IQ > 70). DSM-5 was psychometrically superior to the DSM-IV-TR model (Comparative Fit Index of 0.970 vs 0.879, respectively). Measurement invariance revealed good model fit across gender and IQ. Younger children tended to meet fewer diagnostic criteria. Those with autistic disorder were more likely to meet social communication and repetitive behaviors criteria (p < .001) than those with PDD-NOS. DSM-5 is a robust model but will identify a different, albeit overlapping population of individuals compared to DSM-IV-TR.

  5. The history of nosology and the rise of the Diagnostic and Statistical Manual of Mental Disorders.

    PubMed

    Shorter, Edward

    2015-03-01

    The current Diagnostic and Statistical Manual of Mental Disorders (DSM)-5 arose from a tradition filled with haphazard science and politically driven choices. The nosology of modern psychiatry began with the German classifiers of the late 19th century, especially Emil Kraepelin. Psychoanalysis then blotted out the classificatory vision for the next half-century, and most of this European psychopathological science failed to cross the Atlantic. The DSM series was a homegrown American product, beginning with Medical 203 in 1945, then guided by psychoanalytic insights through DSM-I in 1952 and DSM-II in 1968. In 1980, DSM-III represented a massive "turning of the page" in nosology, and it had the effect of steering psychoanalysis toward the exit in psychiatry and the beginning of a reconciliation of psychiatry with the rest of medicine. With the advent of DSM-5, however, questions are starting to be asked about whether this massive venture is on the right track.

  6. A2 diagnostic criterion for combat-related posttraumatic stress disorder.

    PubMed

    Adler, Amy B; Wright, Kathleen M; Bliese, Paul D; Eckford, Rachel; Hoge, Charles W

    2008-06-01

    Individuals trained to respond to a potentially traumatic event may not experience the posttraumatic stress disorder (PTSD) A2 diagnostic criterion of fear, helplessness, or horror and yet may still report significant PTSD symptoms. The present study included interviews with 202 soldiers returning from a year in Iraq. Although reporting an A2 response was associated with higher PTSD Checklist scores, there were no significant differences in the percentage of subjects who met cutoff criteria for PTSD. The most common alternative A2 responses were related to military training and anger. The A2 criterion for PTSD should be expanded so as not to underestimate the number of individuals trained for high-risk occupations who might benefit from treatment. PMID:18553417

  7. Diagnostic accuracy of Posttraumatic Stress Disorder Checklist in blast-exposed military personnel.

    PubMed

    Walker, William C; McDonald, Scott D; Franke, Laura Manning

    2014-01-01

    Researchers often extrapolate posttraumatic stress disorder (PTSD) status from PTSD Checklist (PCL) data. When doing so, cut points should be based on samples with similar characteristics. This study assessed PCL diagnostic accuracy and postconcussive symptom levels within 106 Iraq/Afghanistan war Veterans and servicemembers with recent blast exposure. Two definitions of PTSD were applied: (1) "strict" Diagnostic and Statistical Manual of Mental Health Disorders (DSM), 4th edition (DSM-IV) criteria and (2) "relaxed" DSM-IV criteria dropping the A2 criterion as per the DSM, 5th edition (DSM-V). Using a structured interview for PTSD, we found moderate agreement with the PCL. Under strict criteria, PTSD prevalence was 16%, PCL cut point was 66 at peak kappa, and mean Rivermead Postconcussion Questionnaire (RPQ) score trended higher for those with PTSD than for those without PTSD (35.5 +/- 11.2 vs 30.5 +/- 10.7, respectively; p = 0.080). Under relaxed criteria, PTSD prevalence was 26.4%, PCL cut point was 58 at peak kappa, and those with PTSD had higher RPQ scores than those without PTSD (36.4 +/- 11.2 vs 29.5 +/- 10.2, respectively; p = 0.003). Participants diagnosed with blast-related mild traumatic brain injury (n = 90) did not differ from those without mild traumatic brain injury (n = 16) in symptom scores. In conclusion, persons with combat-related blast exposure need higher than conventional PCL cut points and those with PTSD have more severe postconcussive-type symptoms than those without PTSD. PMID:25671462

  8. Some comments on nomology, diagnostic process, and narcissistic personality disorder in the DSM-5 proposal for personality and personality disorders.

    PubMed

    Pincus, Aaron L

    2011-01-01

    I comment on the DSM-5 proposal for personality disorders (PDs), including discussion of the proposal's nomological revisions and their implications, the development and prioritization of a set of general criteria for PD, the shift to prototype matching of narrative descriptions for assessment of personality impairments and prominent PD types, and the recommendation to delete five PD diagnoses. Although the general criteria for PD are promising, implementation of prototype ratings for both functional impairments and PD types remains psychometrically questionable. In addition, revising the format and content of the diagnostic criteria while simultaneously deleting five diagnoses confounds evaluation of the revisions for the purposes indicated in the proposal. Finally, the performance of prior DSM criteria sets should not be the primary basis for considering the ontological status of prominent types because of construct definition problems with the criteria sets and criterion problems with DSM-based PD research. These concerns were highlighted in the case of Narcissistic PD-a diagnosis slated for deletion despite significant evidence for its clinical utility and validity when data beyond DSM criteria is considered. Changes of this magnitude are needed, but rigorous scientific evaluation is necessary before evolving from a proposal to the officially published DSM-5.

  9. Assessment of the Validity of the Research Diagnostic Criteria for Temporomandibular Disorders: Overview and Methodology

    PubMed Central

    Schiffman, Eric L.; Truelove, Edmond L.; Ohrbach, Richard; Anderson, Gary C.; John, Mike T.; List, Thomas; Look, John O.

    2011-01-01

    AIMS The purpose of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) Validation Project was to assess the diagnostic validity of this examination protocol. An overview is presented, including Axis I and II methodology and descriptive statistics for the study participant sample. This paper details the development of reliable methods to establish the reference standards for assessing criterion validity of the Axis I RDC/TMD diagnoses. Validity testing for the Axis II biobehavioral instruments was based on previously validated reference standards. METHODS The Axis I reference standards were based on the consensus of 2 criterion examiners independently performing a comprehensive history, clinical examination, and evaluation of imaging. Intersite reliability was assessed annually for criterion examiners and radiologists. Criterion exam reliability was also assessed within study sites. RESULTS Study participant demographics were comparable to those of participants in previous studies using the RDC/TMD. Diagnostic agreement of the criterion examiners with each other and with the consensus-based reference standards was excellent with all kappas ≥ 0.81, except for osteoarthrosis (moderate agreement, k = 0.53). Intrasite criterion exam agreement with reference standards was excellent (k ≥ 0.95). Intersite reliability of the radiologists for detecting computed tomography-disclosed osteoarthrosis and magnetic resonance imaging-disclosed disc displacement was good to excellent (k = 0.71 and 0.84, respectively). CONCLUSION The Validation Project study population was appropriate for assessing the reliability and validity of the RDC/TMD Axis I and II. The reference standards used to assess the validity of Axis I TMD were based on reliable and clinically credible methods. PMID:20213028

  10. Air Pollution and Newly Diagnostic Autism Spectrum Disorders: A Population-Based Cohort Study in Taiwan

    PubMed Central

    Jung, Chau-Ren; Lin, Yu-Ting; Hwang, Bing-Fang

    2013-01-01

    There is limited evidence that long-term exposure to ambient air pollution increases the risk of childhood autism spectrum disorder (ASD). The objective of the study was to investigate the associations between long-term exposure to air pollution and newly diagnostic ASD in Taiwan. We conducted a population-based cohort of 49,073 children age less than 3 years in 2000 that were retrieved from Taiwan National Insurance Research Database and followed up from 2000 through 2010. Inverse distance weighting method was used to form exposure parameter for ozone (O3), carbon monoxide (CO), nitrogen dioxide (NO2), sulfur dioxide (SO2), and particles with aerodynamic diameter less than 10 µm (PM10). Time-dependent Cox proportional hazards (PH) model was performed to evaluate the relationship between yearly average exposure air pollutants of preceding years and newly diagnostic ASD. The risk of newly diagnostic ASD increased according to increasing O3, CO, NO2, and SO2 levels. The effect estimate indicating an approximately 59% risk increase per 10 ppb increase in O3 level (95% CI 1.42–1.79), 37% risk increase per 10 ppb in CO (95% CI 1.31–1.44), 340% risk increase per 10 ppb increase in NO2 level (95% CI 3.31–5.85), and 17% risk increase per 1 ppb in SO2 level (95% CI 1.09–1.27) was stable with different combinations of air pollutants in the multi-pollutant models. Our results provide evident that children exposure to O3, CO, NO2, and SO2 in the preceding 1 year to 4 years may increase the risk of ASD diagnosis. PMID:24086549

  11. The validity of the Personality Diagnostic Questionnaire-4 Narcissistic Personality Disorder scale for assessing pathological grandiosity.

    PubMed

    Hopwood, Christopher J; Donnellan, M Brent; Ackerman, Robert A; Thomas, Katherine M; Morey, Leslie C; Skodol, Andrew E

    2013-01-01

    Although controversy surrounds the definition and measurement of narcissism, the claim that pathological grandiosity is central to the construct generates little disagreement. Yet representations of pathological grandiosity vary across measures of narcissism, leading to conceptual confusion in the literature. The validity of a DSM-based measure of pathological narcissism, the Personality Diagnostic Questionnaire-4 Narcissistic Personality Disorder scale (PDQ-4 NPD), was evaluated in 1 clinical and 3 nonclinical samples (total N=2,391) for its ability to measure pathological grandiosity. Findings were generally supportive: average scores were higher in the clinical than nonclinical samples and the PDQ-4 NPD scale correlated most strongly with (a) other measures of NPD; (b) other DSM Cluster B personality disorders; (c) traits involving antagonism, hostility, and assertiveness; and (d) interpersonal distress and disaffiliative dominance. However, the low internal consistency of the PDQ-4 NPD scale and unexpected associations with Cluster A and obsessive-compulsive features point to potential psychometric weaknesses with this instrument. These findings are useful for evaluating the PDQ-4 NPD scale and for informing ongoing debates regarding how to define and assess pathological narcissism.

  12. The validity of the Personality Diagnostic Questionnaire-4 Narcissistic Personality Disorder scale for assessing pathological grandiosity.

    PubMed

    Hopwood, Christopher J; Donnellan, M Brent; Ackerman, Robert A; Thomas, Katherine M; Morey, Leslie C; Skodol, Andrew E

    2013-01-01

    Although controversy surrounds the definition and measurement of narcissism, the claim that pathological grandiosity is central to the construct generates little disagreement. Yet representations of pathological grandiosity vary across measures of narcissism, leading to conceptual confusion in the literature. The validity of a DSM-based measure of pathological narcissism, the Personality Diagnostic Questionnaire-4 Narcissistic Personality Disorder scale (PDQ-4 NPD), was evaluated in 1 clinical and 3 nonclinical samples (total N=2,391) for its ability to measure pathological grandiosity. Findings were generally supportive: average scores were higher in the clinical than nonclinical samples and the PDQ-4 NPD scale correlated most strongly with (a) other measures of NPD; (b) other DSM Cluster B personality disorders; (c) traits involving antagonism, hostility, and assertiveness; and (d) interpersonal distress and disaffiliative dominance. However, the low internal consistency of the PDQ-4 NPD scale and unexpected associations with Cluster A and obsessive-compulsive features point to potential psychometric weaknesses with this instrument. These findings are useful for evaluating the PDQ-4 NPD scale and for informing ongoing debates regarding how to define and assess pathological narcissism. PMID:23101760

  13. Challenges in Internet Addiction Disorder: Is a Diagnosis Feasible or Not?

    PubMed

    Musetti, Alessandro; Cattivelli, Roberto; Giacobbi, Marco; Zuglian, Pablo; Ceccarini, Martina; Capelli, Francesca; Pietrabissa, Giada; Castelnuovo, Gianluca

    2016-01-01

    An important international discussion began because of some pioneer studies carried out by Young (a) on the internet addiction disorder (IAD). In the fifth and most recent version of the Diagnostic, and Statistical Manual of Mental Disorders (DSM) there is no mention of this disorder and among researchers there are basically two opposite positions. Those who are in favor of a specific diagnosis and those who are claiming the importance of specific criteria characterizing this behavior and the precise role it has in the patient's life. The aim of the present paper is to answer the question whether it is possible or not to formulate diagnoses of internet-related disorders. We revised literature on the history of diagnostic criteria, on neurocognitive evidence, on the topic debate and on IAD instrumental measures. We found that the disorder was not univocally defined and that the construct was somehow too broad and generic to be explicative for a diagnosis. Indeed, the models are borrowed from other addiction pathologies and they are often formulated before the development of internet as intended in current society. In conclusion, we think we need a more innovative, integrated and comprehensive model for an IAD diagnosis. PMID:27375523

  14. Challenges in Internet Addiction Disorder: Is a Diagnosis Feasible or Not?

    PubMed Central

    Musetti, Alessandro; Cattivelli, Roberto; Giacobbi, Marco; Zuglian, Pablo; Ceccarini, Martina; Capelli, Francesca; Pietrabissa, Giada; Castelnuovo, Gianluca

    2016-01-01

    An important international discussion began because of some pioneer studies carried out by Young (a) on the internet addiction disorder (IAD). In the fifth and most recent version of the Diagnostic, and Statistical Manual of Mental Disorders (DSM) there is no mention of this disorder and among researchers there are basically two opposite positions. Those who are in favor of a specific diagnosis and those who are claiming the importance of specific criteria characterizing this behavior and the precise role it has in the patient’s life. The aim of the present paper is to answer the question whether it is possible or not to formulate diagnoses of internet-related disorders. We revised literature on the history of diagnostic criteria, on neurocognitive evidence, on the topic debate and on IAD instrumental measures. We found that the disorder was not univocally defined and that the construct was somehow too broad and generic to be explicative for a diagnosis. Indeed, the models are borrowed from other addiction pathologies and they are often formulated before the development of internet as intended in current society. In conclusion, we think we need a more innovative, integrated and comprehensive model for an IAD diagnosis. PMID:27375523

  15. Challenges in Internet Addiction Disorder: Is a Diagnosis Feasible or Not?

    PubMed

    Musetti, Alessandro; Cattivelli, Roberto; Giacobbi, Marco; Zuglian, Pablo; Ceccarini, Martina; Capelli, Francesca; Pietrabissa, Giada; Castelnuovo, Gianluca

    2016-01-01

    An important international discussion began because of some pioneer studies carried out by Young (a) on the internet addiction disorder (IAD). In the fifth and most recent version of the Diagnostic, and Statistical Manual of Mental Disorders (DSM) there is no mention of this disorder and among researchers there are basically two opposite positions. Those who are in favor of a specific diagnosis and those who are claiming the importance of specific criteria characterizing this behavior and the precise role it has in the patient's life. The aim of the present paper is to answer the question whether it is possible or not to formulate diagnoses of internet-related disorders. We revised literature on the history of diagnostic criteria, on neurocognitive evidence, on the topic debate and on IAD instrumental measures. We found that the disorder was not univocally defined and that the construct was somehow too broad and generic to be explicative for a diagnosis. Indeed, the models are borrowed from other addiction pathologies and they are often formulated before the development of internet as intended in current society. In conclusion, we think we need a more innovative, integrated and comprehensive model for an IAD diagnosis.

  16. Liver fibrosis in non-alcoholic fatty liver disease - diagnostic challenge with prognostic significance

    PubMed Central

    Stål, Per

    2015-01-01

    Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease in the Western world, with a prevalence of 20%. In a subgroup of patients, inflammation, ballooning degeneration of hepatocytes and a varying degree of fibrosis may develop, a condition named non-alcoholic steatohepatitis. Advanced liver fibrosis (stage F3) and cirrhosis (stage F4) are histologic features that most accurately predict increased mortality in both liver-related and cardiovascular diseases. Patients with advanced fibrosis or cirrhosis are at risk for complications such as hepatocellular carcinoma and esophageal varices and should therefore be included in surveillance programs. However, liver disease and fibrosis are often unrecognized in patients with NAFLD, possibly leading to a delayed diagnosis of complications. The early diagnosis of advanced fibrosis in NAFLD is therefore crucial, and it can be accomplished using serum biomarkers (e.g., the NAFLD Fibrosis Score, Fib-4 Index or BARD) or non-invasive imaging techniques (transient elastography or acoustic radiation force impulse imaging). The screening of risk groups, such as patients with obesity and/or type 2 diabetes mellitus, for NAFLD development with these non-invasive methods may detect advanced fibrosis at an early stage. Additionally, patients with a low risk for advanced fibrosis can be identified, and the need for liver biopsies can be minimized. This review focuses on the diagnostic challenge and prognostic impact of advanced liver fibrosis in NAFLD. PMID:26494963

  17. Liver fibrosis in non-alcoholic fatty liver disease - diagnostic challenge with prognostic significance.

    PubMed

    Stål, Per

    2015-10-21

    Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease in the Western world, with a prevalence of 20%. In a subgroup of patients, inflammation, ballooning degeneration of hepatocytes and a varying degree of fibrosis may develop, a condition named non-alcoholic steatohepatitis. Advanced liver fibrosis (stage F3) and cirrhosis (stage F4) are histologic features that most accurately predict increased mortality in both liver-related and cardiovascular diseases. Patients with advanced fibrosis or cirrhosis are at risk for complications such as hepatocellular carcinoma and esophageal varices and should therefore be included in surveillance programs. However, liver disease and fibrosis are often unrecognized in patients with NAFLD, possibly leading to a delayed diagnosis of complications. The early diagnosis of advanced fibrosis in NAFLD is therefore crucial, and it can be accomplished using serum biomarkers (e.g., the NAFLD Fibrosis Score, Fib-4 Index or BARD) or non-invasive imaging techniques (transient elastography or acoustic radiation force impulse imaging). The screening of risk groups, such as patients with obesity and/or type 2 diabetes mellitus, for NAFLD development with these non-invasive methods may detect advanced fibrosis at an early stage. Additionally, patients with a low risk for advanced fibrosis can be identified, and the need for liver biopsies can be minimized. This review focuses on the diagnostic challenge and prognostic impact of advanced liver fibrosis in NAFLD.

  18. The Steady State Challenge for Soft X-Ray Diagnostics on Wendelstein 7-X Stellarator

    SciTech Connect

    Thomsen, H.; Broszat, T.; Mohr, S.; Weller, A.; Ye, M. Y.; Carvalho, P.

    2008-03-19

    The steady state operation of Wendelstein 7-X stellarator presently under construction in Greifswald poses special challenges to the diagnostics development [1, 2]. A critical issue is the heat load on plasma facing components ({approx}500 kW/m{sup 2}) over a long discharge time (up to 30 min), which leads to the necessity of active cooling. As result, the design of the 400 channel soft X-Ray Multi Camera Tomography System (XMCTS) [2, 3] has to cope with dark currents and amplifier drifts due to the heating of active components like photo diodes and in-vessel preamplifiers. In order to allow for a quantitative measurement of dynamic drifts and offsets, a shutter system and blind diodes are considered to compensate these effects. Another important issue is the large amount of data gathered by the XMCT system during long pulse discharges. A fast but less precise online reconstruction is planned, which will give information on the plasma shape and position on a human time scale. The two options under investigation are a Cormack-Inversion method and an approach based on neural networks [4]. Dependent on the available hardware, as much information as possible should be stored for more accurate offline-analysis. An intelligent way of marking interesting data is required. In case that the steady-state storage of all measured data is not feasible, at least this marked data will be stored in high time resolution.

  19. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.

    PubMed

    Xue, Yuan; Ankala, Arunkanth; Wilcox, William R; Hegde, Madhuri R

    2015-06-01

    Next-generation sequencing is changing the paradigm of clinical genetic testing. Today there are numerous molecular tests available, including single-gene tests, gene panels, and exome sequencing or genome sequencing. As a result, ordering physicians face the conundrum of selecting the best diagnostic tool for their patients with genetic conditions. Single-gene testing is often most appropriate for conditions with distinctive clinical features and minimal locus heterogeneity. Next-generation sequencing-based gene panel testing, which can be complemented with array comparative genomic hybridization and other ancillary methods, provides a comprehensive and feasible approach for heterogeneous disorders. Exome sequencing and genome sequencing have the advantage of being unbiased regarding what set of genes is analyzed, enabling parallel interrogation of most of the genes in the human genome. However, current limitations of next-generation sequencing technology and our variant interpretation capabilities caution us against offering exome sequencing or genome sequencing as either stand-alone or first-choice diagnostic approaches. A growing interest in personalized medicine calls for the application of genome sequencing in clinical diagnostics, but major challenges must be addressed before its full potential can be realized. Here, we propose a testing algorithm to help clinicians opt for the most appropriate molecular diagnostic tool for each scenario.

  20. Attention-deficit hyperactivity disorder (ADHD) as a pyridoxine-dependent condition: urinary diagnostic biomarkers.

    PubMed

    Dolina, S; Margalit, D; Malitsky, S; Rabinkov, A

    2014-01-01

    The data obtained in children with different forms of epilepsy allowed us to consider epilepsy as an inborn error of pyridoxine (vitamin B6) metabolism (Dolina et al., 2012). Mutual interconnections between ADHD and epilepsy indicate that such an approach is reasonable for ADHD. To check such an assumption we analyzed in ADHD patients the same parameters of pyridoxal phosphate (PLP)-dependent tryptophan (TRP) degradation, which were analyzed in epileptic children. The level of TRP and concentrations of compounds formed or metabolized by TRP degradation, the ratios between some of them, and the level of 4-pyridoxic acid were HPLC detected in ADHD children and healthy controls. The data obtained, including low values of 4PA/TRP, IND/TRP and IND/KYN ratios, have evidenced dramatically impaired activity of pyridoxine-dependent enzymes in ADHD patients. Ritalin treatment did not change the general pattern of TRP degradation, but still created a kind of balance between some of detected metabolites. However, the 4PA/TRP, IND/TRP and IND/KYN ratios remained as low as in untreated patients, keeping the importance of diagnostic markers. Almost identical parameters of TRP degradation in untreated ADHD and epileptic patients allow to assume that inborn disorders of vitamin B6 metabolism are the common biochemical background of both diseases. The disturbed activity of PLP dependent enzymes apparently forms those profound disturbances of neurotransmitter systems, which are inherent in ADHD: low concentrations of monoamines and disordered amino acid metabolism. If vitamin B6 disorders are the core biochemical disturbances inherent in ADHD, then the long-term pyridoxine treatment is pathogenetically based replacement therapy of the disease. According to our data, multi-year pyridoxine treatment normalizes completely the pattern of ADHD behavior, without causing any serious side effects. PMID:24321736

  1. The Structured Clinical Interview for DSM-III-R Dissociative Disorders: preliminary report on a new diagnostic instrument.

    PubMed

    Steinberg, M; Rounsaville, B; Cicchetti, D V

    1990-01-01

    The authors describe the Structured Clinical Interview for DSM-III-R Dissociative Disorders (SCID-D), which investigates five groups of dissociative symptoms (amnesia, depersonalization, derealization, identity confusion, and identity alteration) and systematically rates both the severity of individual symptoms and the evaluation of overall diagnosis of dissociative disorder. Preliminary findings from a study of 48 subjects with and without psychiatric diagnoses indicate good to excellent reliability and discriminant validity for the SCID-D as a diagnostic instrument for the five dissociative disorders and as a tool for the evaluation of dissociative symptoms encountered within nondissociative syndromes.

  2. Rapid-Response Parenting Intervention in Diagnostic Centers as a Patient-Centered Innovation for Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    McMillin, Stephen Edward; Bultas, Margaret W.; Wilmott, Jennifer; Grafeman, Sarah; Zand, Debra H.

    2015-01-01

    Parents of children newly diagnosed with autism spectrum disorders are a high-need population for whom skills-based parenting interventions likely help. Diagnostic centers are compelling locations to deliver parenting interventions because families are served in an accessible location and at a time they receive overwhelming treatment…

  3. Impact of Adherence to Best Practice Guidelines on the Diagnostic and Assessment Services for Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Hathorn, Claire; Alateeqi, Nahed; Graham, Catriona; O'Hare, Anne

    2014-01-01

    Despite their range and complexity, adherence to Scottish Intercollegiate Guidelines Network guideline for the diagnosis and assessment of autism spectrum disorders (ASD) was shown to be high within child development and specialist diagnostic clinics serving a geographical cohort of children diagnosed under the age of 7 years. A retrospective…

  4. Overview and Analysis of the Behaviourist Criticism of the "Diagnostic and Statistical Manual of Mental Disorders (DSM)"

    ERIC Educational Resources Information Center

    Andersson, Gerhard; Ghaderi, Ata

    2006-01-01

    While a majority of cognitive behavioural researchers and clinicians adhere to the classification system provided in the "Diagnostic and Statistical Manual of Mental Disorders (DSM-IV)," strong objections have been voiced among behaviourists who find the dichotomous allocation of patients into psychiatric diagnoses incompatible with the philosophy…

  5. Convergent Validity of the Autism Spectrum Disorder-Diagnostic for Children (ASD-DC) and Childhood Autism Rating Scales (CARS)

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Mahan, Sara; Hess, Julie A.; Fodstad, Jill C.; Neal, Daniene

    2010-01-01

    Previous studies analyzed the reliability as well as sensitivity and specificity of the Autism Spectrum Disorder-Diagnostic for Children (ASD-DC). This study further examines the psychometric properties of the ASD-DC by assessing whether the ASD-DC has convergent validity against a psychometrically sound observational instrument for Autistic…

  6. Variability among Research Diagnostic Interview Instruments in the Application of "DSM-IV-TR" Criteria for Pediatric Bipolar Disorder

    ERIC Educational Resources Information Center

    Galanter, Cathryn A.; Hundt, Stephanie R.; Goyal, Parag; Le, Jenna; Fisher, Prudence W.

    2012-01-01

    Objective: The "DSM-IV-TR "criteria for a manic episode and bipolar disorder (BD) were developed for adults but are used for children. The manner in which clinicians and researchers interpret these criteria may have contributed to the increase in BD diagnoses given to youth. Research interviews are designed to improve diagnostic reliability and…

  7. Utility of the 3Di Short Version for the Diagnostic Assessment of Autism Spectrum Disorder and Compatibility with DSM-5

    ERIC Educational Resources Information Center

    Slappendel, Geerte; Mandy, William; van der Ende, Jan; Verhulst, Frank C.; van der Sijde, Ad; Duvekot, Jorieke; Skuse, David; Greaves-Lord, Kirstin

    2016-01-01

    The Developmental Diagnostic Dimensional Interview-short version (3Di-sv) provides a brief standardized parental interview for diagnosing autism spectrum disorder (ASD). This study explored its validity, and compatibility with DSM-5 ASD. 3Di-sv classifications showed good sensitivity but low specificity when compared to ADOS-2-confirmed clinical…

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

    ERIC Educational Resources Information Center

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

    2008-01-01

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

  9. The "Diagnostic and Statistical Manual of Mental Disorders" as a Major Form of Dehumanization in the Modern World

    ERIC Educational Resources Information Center

    Gambrill, Eileen

    2014-01-01

    The "Diagnostic and Statistical Manual of Mental Disorders" (DSM) is one of the most successful technologies in modern times. In spite of well-argued critiques, the DSM and the idea of "mental illness" on which it is based flourish, with ever more (mis)behaviors labeled as brain diseases. Problems in living and related distress…

  10. Technological advances in diagnostic testing for von Willebrand disease: new approaches and challenges.

    PubMed

    Hayward, C P M; Moffat, K A; Graf, L

    2014-06-01

    Diagnostic tests for von Willebrand disease (VWD) are important for the assessment of VWD, which is a commonly encountered bleeding disorder worldwide. Technical innovations have been applied to improve the precision and lower limit of detection of von Willebrand factor (VWF) assays, including the ristocetin cofactor activity assay (VWF:RCo) that uses the antibiotic ristocetin to induce plasma VWF binding to glycoprotein (GP) IbIXV on target platelets. VWF-collagen-binding assays, depending on the type of collagen used, can improve the detection of forms of VWD with high molecular weight VWF multimer loss, although the best method is debatable. A number of innovations have been applied to VWF:RCo (which is commonly performed on an aggregometer), including replacing the target platelets with immobilized GPIbα, and quantification by an enzyme-linked immunosorbent assay (ELISA), immunoturbidimetric, or chemiluminescent end-point. Some common polymorphisms in the VWF gene that do not cause bleeding are associated with falsely low VWF activity by ristocetin-dependent methods. To overcome the need for ristocetin, some new VWF activity assays use gain-of-function GPIbα mutants that bind VWF without the need for ristocetin, with an improved precision and lower limit of detection than measuring VWF:RCo by aggregometry. ELISA of VWF binding to mutated GPIbα shows promise as a method to identify gain-of-function defects from type 2B VWD. The performance characteristics of many new VWF activity assays suggest that the detection of VWD, and monitoring of VWD therapy, by clinical laboratories could be improved through adopting newer generation VWF assays.

  11. What should be done with antisocial personality disorder in the new edition of the diagnostic and statistical manual of mental disorders (DSM-V)?

    PubMed Central

    2010-01-01

    Antisocial personality disorder, psychopathy, dissocial personality disorder and sociopathy are constructs that have generally been used to predict recidivism and dangerousness, alongside being used to exclude patients from treatment services. However, 'antisocial personality disorder' has recently begun to emerge as a treatment diagnosis, a development reflected within cognitive behaviour therapy and mentalisation-based psychotherapy. Many of the behaviour characteristics of antisocial personality disorder are, at the same time, being targeted by interventions at criminal justice settings. A significantly higher proportion of published articles focusing on antisocial personality concern treatment when compared to articles on psychopathy. Currently, the proposal for antisocial personality disorder for the Diagnostic and Statistical Manual of Mental Disorders, fifth edition, suggests a major change in the criteria for this disorder. While the present definition focuses mainly on observable behaviours, the proposed revision stresses interpersonal and emotional aspects of the disorder drawing on the concept of psychopathy. The present commentary suggests that developments leading to improvement in the diagnosis of this type of disorder should, rather than focusing exclusively on elements such as dangerousness and risk assessment, point us to ways in which patients can be treated for their problems. PMID:20979622

  12. What should be done with antisocial personality disorder in the new edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V)?

    PubMed

    Hesse, Morten

    2010-10-27

    Antisocial personality disorder, psychopathy, dissocial personality disorder and sociopathy are constructs that have generally been used to predict recidivism and dangerousness, alongside being used to exclude patients from treatment services. However, 'antisocial personality disorder' has recently begun to emerge as a treatment diagnosis, a development reflected within cognitive behaviour therapy and mentalisation-based psychotherapy. Many of the behaviour characteristics of antisocial personality disorder are, at the same time, being targeted by interventions at criminal justice settings. A significantly higher proportion of published articles focusing on antisocial personality concern treatment when compared to articles on psychopathy. Currently, the proposal for antisocial personality disorder for the Diagnostic and Statistical Manual of Mental Disorders, fifth edition, suggests a major change in the criteria for this disorder. While the present definition focuses mainly on observable behaviours, the proposed revision stresses interpersonal and emotional aspects of the disorder drawing on the concept of psychopathy. The present commentary suggests that developments leading to improvement in the diagnosis of this type of disorder should, rather than focusing exclusively on elements such as dangerousness and risk assessment, point us to ways in which patients can be treated for their problems.

  13. Circulating microRNAs as a Novel Class of Potential Diagnostic Biomarkers in Neuropsychiatric Disorders.

    PubMed

    Kichukova, Tatyana M; Popov, Nikolay T; Ivanov, Hristo Y; Vachev, Tihomir I

    2015-01-01

    Neuropsychiatric diseases, such as schizophrenia, bipolar disorder (BD), major depressive disorder (MDD) and autism spectrum disorder (ASD), are a huge burden on society, impairing the health of those affected, as well as their ability to learn and work. Biomarkers that reflect the dysregulations linked to neuropsychiatric diseases may potentially assist the diagnosis of these disorders. Most of these biomarkers are found in the brain tissue, which is not easily accessible. This is the challenge for the search of novel biomarkers that are present in various body fluids, including serum or plasma. As a group of important endogenous small noncoding RNAs that regulate gene expression at post-transcriptional level, microRNAs (miRNAs) play a crucial role in many physiological and pathological processes. Previously, researchers discovered that miRNAs contribute to the neurodevelopment and maturation, including neurite outgrowth, dendritogenesis and dendritic spine formation. These developments underline the significance of miRNAs as potential biomarkers for diagnosing and prognosing central nervous system diseases. Accumulated evidence indicates that there are considerable differences between the cell-free miRNA expression profiles of healthy subjects and those of patients. Therefore, circulating miRNAs are likely to become a new class of noninvasive, sensitive biomarkers. Despite the fact that little is known about the origin and functions of circulating miRNAs, their essential roles in the clinical diagnosis and prognosis of neuropsychiatric diseases make them attractive biomarkers. In this review we cover the increasing amounts of dataset that have accumulated in the last years on the use of circulating miRNAs and their values as potential biomarkers in most areas of neuropsychiatric diseases. PMID:27180342

  14. Challenges and Strategies for Quantitive Ground Penetrating Radar Diagnostics of Cultural Heritage

    NASA Astrophysics Data System (ADS)

    di Donato, Loreto; Catapano, Ilaria; Crocco, Lorenzo

    2010-05-01

    High resolution non-invasive surveys based on Ground Penetrating Radar are exploited in many different applications, including cultural heritage diagnostics. In this framework, the interaction of the probing wave with an inaccessible region is useful for instance to provide information on the inner status of a structure, so to call for maintenance, or to characterize an underground scenario, so to address the following excavations. While the large part of GPR surveys is still based on 'traditional' radar-like techniques, which require a significant interpretation stage by an expert user, microwave tomography (MT) strategies based on inverse scattering have been recently gaining an increasing attention. As a matter of fact, these techniques are capable of achieving images which are stable with respect to measurement noise and uncertainties on the scenario, therefore being minimally dependent on the end-user's interpretation. So far, MT strategies adopted in GPR surveys are based on an approximated formulation which neglects the underlying non-linearity of the inverse problem. Such a circumstance, that greatly simplifies their practical application, limits the achievable performances, as it prevents one from achieving a quantitative assessment of the scenario under test in terms of location, shape and electormagnetic parameters of the embedded 'anomalies'. Obviously, the potential advantage resulting from such a completely objective assessment is apparent, since an imaging method able to deliver quantitative information entails a dramatic reduction of costs and a definite improvement in the effectiveness of maintenance operations. Therefore, a stimulating challenge is to proceed towards the development of imaging strategies that rely on full-wave models and which are thus capable of providing these added-value results. However, such an aim is not a trivial one pursue, since one has to tackle the inverse problem in its fully non-linearity and ill-posedness. Indeed

  15. Riluzole treatment, survival and diagnostic criteria in Parkinson plus disorders: The NNIPPS Study

    PubMed Central

    Bensimon, Gilbert; Ludolph, Albert; Agid, Yves; Vidailhet, Marie; Payan, Christine; Leigh, P. Nigel

    2009-01-01

    Parkinson plus diseases, comprising mainly progressive supranuclear palsy (PSP) and multiple system atrophy (MSA) are rare neurodegenerative conditions. We designed a double-blind randomized placebo-controlled trial of riluzole as a potential disease-modifying agent in Parkinson plus disorders (NNIPPS: Neuroprotection and Natural History in Parkinson Plus Syndromes). We analysed the accuracy of our clinical diagnostic criteria, and studied prognostic factors for survival. Patients with an akinetic-rigid syndrome diagnosed as having PSP or MSA according to modified consensus diagnostic criteria were considered for inclusion. The psychometric validity (convergent and predictive) of the NNIPPS diagnostic criteria were tested prospectively by clinical and pathological assessments. The study was powered to detect a 40% decrease in relative risk of death within PSP or MSA strata. Patients were randomized to riluzole or matched placebo daily and followed up to 36 months. The primary endpoint was survival. Secondary efficacy outcomes were rates of disease progression assessed by functional measures. A total of 767 patients were randomized and 760 qualified for the Intent to Treat (ITT) analysis, stratified at entry as PSP (362 patients) or MSA (398 patients). Median follow-up was 1095 days (range 249–1095). During the study, 342 patients died and 112 brains were examined for pathology. NNIPPS diagnostic criteria showed for both PSP and MSA excellent convergent validity with the investigators’ assessment of diagnostic probability (point-biserial correlation: MSA rpb = 0.93, P < 0.0001; PSP, rpb = 0.95, P < 0.0001), and excellent predictive validity against histopathology [sensitivity and specificity (95% CI) for PSP 0.95 (0.88–0.98) and 0.84 (0.77–0.87); and for MSA 0.96 (0.88–0.99) and 0.91 (0.86–0.93)]. There was no evidence of a drug effect on survival in the PSP or MSA strata (3 year Kaplan–Meier estimates PSP-riluzole: 0.51, PSP-placebo: 0.50; MSA

  16. The structure of Diagnostic and Statistical Manual of Mental Disorders (4th edition, text revision) personality disorder symptoms in a large national sample.

    PubMed

    Trull, Timothy J; Vergés, Alvaro; Wood, Phillip K; Jahng, Seungmin; Sher, Kenneth J

    2012-10-01

    We examined the latent structure underlying the criteria for DSM-IV-TR (American Psychiatric Association, 2000, Diagnostic and statistical manual of mental disorders (4th ed., text revision). Washington, DC: Author.) personality disorders in a large nationally representative sample of U.S. adults. Personality disorder symptom data were collected using a structured diagnostic interview from approximately 35,000 adults assessed over two waves of data collection in the National Epidemiologic Survey on Alcohol and Related Conditions. Our analyses suggested that a seven-factor solution provided the best fit for the data, and these factors were marked primarily by one or at most two personality disorder criteria sets. A series of regression analyses that used external validators tapping Axis I psychopathology, treatment for mental health problems, functioning scores, interpersonal conflict, and suicidal ideation and behavior provided support for the seven-factor solution. We discuss these findings in the context of previous studies that have examined the structure underlying the personality disorder criteria as well as the current proposals for DSM-5 personality disorders.

  17. Primary osteoclast-like giant cell tumor of parotid gland: A rare extraskeletal presentation with diagnostic challenges

    PubMed Central

    Singh, Ritika; Zaheer, Sufian; Mandal, Ashish K

    2016-01-01

    Primary osteoclast-like giant cell tumor (OC-GCT) has been rarely described in extraskeletal sites. The diagnosis primarily hinges on the detection of giant cells. However, these giant cells are also seen in many giant cell lesions, thus creating diagnostic confusion and dilemma. Here, we describe a rare case of a 24-year-old male with primary extraskeletal, OC-GCT presenting as a swelling in the right parotid region and highlight its cytological, histological and immunohistochemical characteristics with diagnostic challenges. PMID:27601838

  18. Primary osteoclast-like giant cell tumor of parotid gland: A rare extraskeletal presentation with diagnostic challenges.

    PubMed

    Singh, Ritika; Zaheer, Sufian; Mandal, Ashish K

    2016-01-01

    Primary osteoclast-like giant cell tumor (OC-GCT) has been rarely described in extraskeletal sites. The diagnosis primarily hinges on the detection of giant cells. However, these giant cells are also seen in many giant cell lesions, thus creating diagnostic confusion and dilemma. Here, we describe a rare case of a 24-year-old male with primary extraskeletal, OC-GCT presenting as a swelling in the right parotid region and highlight its cytological, histological and immunohistochemical characteristics with diagnostic challenges. PMID:27601838

  19. Attention deficit hyperactivity disorder and disordered eating behaviors: links, risks, and challenges faced

    PubMed Central

    Ptacek, Radek; Stefano, George B; Weissenberger, Simon; Akotia, Devang; Raboch, Jiri; Papezova, Hana; Domkarova, Lucie; Stepankova, Tereza; Goetz, Michal

    2016-01-01

    Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder that often persists in adulthood. It is defined by inattention and/or hyperactivity–impulsivity. ADHD is associated with many comorbidities, including eating disorders (EDs). In the last decade, studies have reported that ADHD is linked with binge EDs, bulimia nervosa, and anorexia nervosa. Many postulates have been proposed to explain the association: 1) impulsive behavior in ADHD patients leads to disordered eating behavior; 2) other psychologic comorbidities present in ADHD patients account for eating behavior; 3) poor eating habits and resulting nutritional deficiencies contribute to ADHD symptoms; and 4) other risk factors common to both ADHD and EDs contribute to the coincidence of both diseases. Additionally, sex differences become a significant issue in the discussion of EDs and ADHD because of the higher incidence of bulimia nervosa and anorexia nervosa in females and the ability of females to mask the symptoms of ADHD. Interestingly, both EDs and ADHD rely on a common neural substrate, namely, dopaminergic signaling. Dopaminergic signaling is critical for motor activity and emotion, the latter enabling the former into a combined motivated movement like eating. This linkage aids in explaining the many comorbidities associated with ADHD. The interconnection of ADHD and EDs is discussed from both a historical perspective and the one based on the revealing nature of its comorbidities. PMID:27042070

  20. Attention deficit hyperactivity disorder and disordered eating behaviors: links, risks, and challenges faced.

    PubMed

    Ptacek, Radek; Stefano, George B; Weissenberger, Simon; Akotia, Devang; Raboch, Jiri; Papezova, Hana; Domkarova, Lucie; Stepankova, Tereza; Goetz, Michal

    2016-01-01

    Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder that often persists in adulthood. It is defined by inattention and/or hyperactivity-impulsivity. ADHD is associated with many comorbidities, including eating disorders (EDs). In the last decade, studies have reported that ADHD is linked with binge EDs, bulimia nervosa, and anorexia nervosa. Many postulates have been proposed to explain the association: 1) impulsive behavior in ADHD patients leads to disordered eating behavior; 2) other psychologic comorbidities present in ADHD patients account for eating behavior; 3) poor eating habits and resulting nutritional deficiencies contribute to ADHD symptoms; and 4) other risk factors common to both ADHD and EDs contribute to the coincidence of both diseases. Additionally, sex differences become a significant issue in the discussion of EDs and ADHD because of the higher incidence of bulimia nervosa and anorexia nervosa in females and the ability of females to mask the symptoms of ADHD. Interestingly, both EDs and ADHD rely on a common neural substrate, namely, dopaminergic signaling. Dopaminergic signaling is critical for motor activity and emotion, the latter enabling the former into a combined motivated movement like eating. This linkage aids in explaining the many comorbidities associated with ADHD. The interconnection of ADHD and EDs is discussed from both a historical perspective and the one based on the revealing nature of its comorbidities. PMID:27042070

  1. Research Diagnostic Criteria for Temporomandibular Disorders: Validity of Axis I Diagnoses

    PubMed Central

    Truelove, Edmond; Pan, Wei; Look, John O.; Mancl, Lloyd A.; Ohrbach, Richard K.; Velly, Ana; Huggins, Kimberly; Lenton, Patricia; Schiffman, Eric L.

    2011-01-01

    AIMS To estimate the criterion validity of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) Axis I TMD diagnoses. METHODS A combined total of 614 TMD community and clinic cases and 91 controls were examined at 3 study sites. RDC/TMD Axis I diagnoses were algorithmically derived from an examination performed by calibrated dental hygienists. Reference standards (Gold Standards) were established by means of consensus diagnoses rendered by 2 TMD experts using all available clinical data, including imaging studies. Validity of the RDC/TMD Axis I TMD diagnoses was estimated relative to reference-standard diagnoses (gold standard diagnoses). Target sensitivity and specificity were set a priori at ≥ 0.70 and ≥ 0.95, respectively. RESULTS Target sensitivity and specificity were not observed for any of the 8 RDC/TMD diagnoses. The highest validity was achieved for Group Ia myofascial pain (sensitivity 0.65, specificity 0.92) and Group Ib myofascial pain with limited opening (sensitivity 0.79, specificity 0.92). Target sensitivity and specificity were observed only when both Group I diagnoses were combined (0.87 and 0.98, respectively). For Group II (disc displacements) and Group III (arthralgia, arthritis, arthrosis) diagnoses, all estimates for sensitivity were below target (0.03 to 0.53), and specificity ranged from below to on target (0.86 to 0.99). CONCLUSION The RDC/TMD Axis I TMD diagnoses did not reach the targets set at sensitivity of ≥ 0.70 and specificity of ≥ 0.95. Target validity was obtained only for myofascial pain without differentiation between normal and limited opening. Revision of the current Axis I TMD diagnostic algorithms is warranted to improve their validity. PMID:20213030

  2. Diagnostic challenges and the unwritten stories of dog and cat parasites.

    PubMed

    Otranto, Domenico

    2015-08-15

    Is it still possible to discover new parasites of dogs and cats? Do we really know enough about them? To what extent do limitations in the diagnosis of dog and cat parasites represent an obstacle for a deeper understanding of their biology? Diagnosis in parasitology has a profound impact on animal health and welfare and, in some cases, public health. Although, over the last few years, advances in the diagnosis of parasitic diseases have largely paralleled knowledge of their biology, gaps in the diagnosis of cat and dog parasites still exist. For instance, difficulties in obtaining samples for research purposes (due to ethical issues or to the invasive nature of the sampling procedures), inappropriate sample storage and poor sensitivity of the commonly used techniques, may represent major obstacles in diagnosing parasitic diseases. Other hurdles are often associated with the biology of parasites (e.g., the intermittent presence in blood of tick-borne pathogens) or, simply, through the fact that some parasites of pets are largely ignored by the scientific community. This article provides key examples of parasites of dogs and cats, which are currently considered of minor importance, also because of the limitations in their diagnosis. Among them, new or, in some cases, previously "misdiagnosed parasites" with overlapping morphological features, biology or ecology, represent a major challenge when trying to correctly diagnose "unknown parasites" (for which only occasional reports are available). Further research is needed in order to provide the scientific community with more reliable, cost-effective diagnostic tools, which ultimately, will assist our understanding of some mis- or less-diagnosed parasitoses.

  3. Uterine smooth muscle tumor analysis by comparative genomic hybridization: a useful diagnostic tool in challenging lesions.

    PubMed

    Croce, Sabrina; Ribeiro, Agnes; Brulard, Celine; Noel, Jean-Christophe; Amant, Frederic; Stoeckle, Eberhard; Devouassoux-Shisheborah, Mojgan; Floquet, Anne; Arnould, Laurent; Guyon, Frederic; Mishellany, Florence; Garbay, Delphine; Cuppens, Tine; Zikan, Michal; Leroux, Agnès; Frouin, Eric; Duvillard, Pierre; Terrier, Philippe; Farre, Isabelle; Valo, Isabelle; MacGrogan, Gaetan M; Chibon, Frederic

    2015-07-01

    The diagnosis and management of uterine smooth muscle tumors with uncertain malignant potential (STUMP) is often challenging, and genomic data on these lesions as well as on uterine smooth muscle lesions are limited. We tested the hypothesis that genomic profile determination by array-CGH could split STUMP into a benign group with scarce chromosomal alterations akin to leiomyoma and a malignant group with high chromosomal instability akin to leiomyosarcoma. Array-CGH genomic profile analysis was conducted for a series of 29 cases of uterine STUMP. A group of ten uterine leiomyomas and ten uterine leiomyosarcomas served as controls. The mean age was 50 years (range, 24-85) and the follow-up ranged from 12 to 156 months (average 70 months). Since STUMP is a heterogenous group of tumors with genomic profiles that can harbor few to many chromosomal alterations, we compared genomic indices in leiomyomas and leiomyosarcomas and set a genomic index=10 threshold. Tumors with a genomic index <10 were classified as nonrecurring STUMPs and those with a genomic index >10 represented STUMPs with recurrences and unfavorable outcomes. Hence, the genomic index threshold splits the STUMP category into two groups of tumors with different outcomes: a group comparable to leiomyomas and another similar to leiomyosarcomas, but more indolent. In our STUMP series, genomic analysis by array-CGH is an innovative diagnostic tool for problematic smooth muscle uterine lesions, complementary to the morphological evaluation approach. We provide an improved classification method for distinguishing truly malignant tumors from benign lesions within the category of STUMP, especially those with equivocal morphological features.

  4. Low-grade adenosquamous carcinoma of the breast: A diagnostic and clinical challenge.

    PubMed

    Tan, Qing Ting; Chuwa, Esther Wee Lee; Chew, Sung Hock; Lim-Tan, Soo Kim; Lim, Swee Ho

    2015-07-01

    Adenosquamous carcinoma of the breast (ASBC) is a rare variant of metaplastic breast cancer with both glandular as well as squamous differentiation. Their lack of distinct imaging characteristics, sometimes subtle histological characteristics and overlapping features with other benign lesions pose a diagnostic challenge. Unlike other forms of metaplastic breast cancer, low-grade adenosquamous carcinoma (LGAC) tends to follow an indolent course with favourable prognosis. We reviewed eight cases of LGAC in our institution from June 2005 to March 2014. In six cases, LGAC was only found after excisional biopsy. In our patients, LGAC frequently co-existed with other forms of breast pathology. Two patients had incidental findings of LGAC alongside their primary malignant tumour (adenoid cystic carcinoma and invasive ductal carcinoma in one, four foci between 0.5 and 4.0 mm within a radial sclerosing lesion adjacent to a malignant phyllodes tumour in the other). A further four patients had LGAC within a complex sclerosing lesion. One patient had a focus of LGAC within a fibroadenoma. One had a focus of LGAC within a benign phyllodes tumour. None of the patients had evidence of nodal involvement. A high degree of suspicion is recommended as such lesions tend to be incidental histological findings within benign tumours or within complex sclerosing lesions. Although the risk of nodal and distant metastasis is low, the potential for local recurrence necessitates aggressive local excision with margin clearance. The role of axillary dissection has yet to be defined and routine sentinel node biopsy and axillary clearance may not be necessary in view of rarity of nodal metastasis in literature. Benefit from adjuvant radiotherapy or chemotherapy is not clearly defined. All eight patients in our study have shown no evidence of recurrence after definitive surgery but longer periods of surveillance is required. PMID:25986061

  5. A diagnostic dilemma between psychosis and post-traumatic stress disorder: a case report and review of the literature

    PubMed Central

    2011-01-01

    Introduction Post-traumatic stress disorder is defined as a mental disorder that arises from the experience of traumatic life events. Research has shown a high incidence of co-morbidity between post-traumatic stress disorder and psychosis. Case presentation We report the case of a 32-year-old black African woman with a history of both post-traumatic stress disorder and psychosis. Two years ago she presented to mental health services with auditory and visual hallucinations, persecutory delusions, suicidal ideation, recurring nightmares, hyper-arousal, and initial and middle insomnia. She was prescribed trifluoperazine (5 mg/day) and began cognitive-behavioral therapy for psychosis. Her psychotic symptoms gradually resolved over a period of three weeks; however, she continues to experience ongoing symptoms of post-traumatic stress disorder. In our case report, we review both the diagnostic and treatment issues regarding post-traumatic stress disorder with psychotic symptoms. Conclusions There are many factors responsible for the symptoms that occur in response to a traumatic event, including cognitive, affective and environmental factors. These factors may predispose both to the development of post-traumatic stress disorder and/or psychotic disorders. The independent diagnosis of post-traumatic stress disorder with psychotic features remains an open issue. A psychological formulation is essential regarding the appropriate treatment in a clinical setting. PMID:21392392

  6. Higher Education Experiences of Students with Autism Spectrum Disorder: Challenges, Benefits and Support Needs

    ERIC Educational Resources Information Center

    Van Hees, Valérie; Moyson, Tinneke; Roeyers, Herbert

    2015-01-01

    The transition into higher education constitutes a precarious life stage for students with autism spectrum disorder (ASD). Research on how students with ASD navigate college life is needed for the development of adequate support. This study investigated the challenges and support needs of 23 students with ASD in higher education through…

  7. Educators' Challenges of Including Children with Autism Spectrum Disorder in Mainstream Classrooms

    ERIC Educational Resources Information Center

    Lindsay, Sally; Proulx, Meghann; Thomson, Nicole; Scott, Helen

    2013-01-01

    Although children with autism spectrum disorder (ASD) are increasingly being placed within mainstream classes, little is known about the challenges that teachers encounter with including them as full participants in the class. This qualitative study draws on a purposive sample of 13 educators who have experience teaching children with ASD within…

  8. Challenging Situations when Teaching Children with Autism Spectrum Disorders in General Physical Education

    ERIC Educational Resources Information Center

    Obrusnikova, Iva; Dillon, Suzanna R.

    2011-01-01

    As the first step of an instrument development, teaching challenges that occur when students with autism spectrum disorders are educated in general physical education were elicited using Goldfried and D'Zurilla's (1969) behavioral-analytic model. Data were collected from a convenience sample of 43 certified physical educators (29 women and 14 men)…

  9. Characteristics of Challenging Behaviours in Adults with Autistic Disorder, PDD-NOS, and Intellectual Disability

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Rivet, Tessa T.

    2008-01-01

    Background: Challenging behaviours are frequently a problem for people with autism spectrum disorders (ASD) and intellectual disability (ID). A better understanding of which individuals display which behaviours, at what rates, and the relationship of these behaviours to comorbid psychopathology would have important implications. Method: A group of…

  10. Interventions for Challenging Behaviours of Students with Autism Spectrum Disorders and Developmental Disabilities: A Synthesis Paper

    ERIC Educational Resources Information Center

    Montgomery, Janine; Martin, Toby; Shooshtari, Shahin; Stoesz, Brenda M.; Heinrichs, Dustin J.; North, Sebastian; Dodson, Lindsay; Senkow, Quinn; Douglas, Joyce

    2014-01-01

    This synthesis paper summarizes research literature addressing challenging behaviours in children and youth with autism spectrum disorders and developmental disabilities in school settings. We conducted a comprehensive literature review to identify relevant peer-reviewed articles published between the years 2000 and 2011. The methodological…

  11. Challenging Behavior and Co-Morbid Psychopathology in Adults with Intellectual Disability and Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    McCarthy, Jane; Hemmings, Colin; Kravariti, Eugenia; Dworzynski, Katharina; Holt, Geraldine; Bouras, Nick; Tsakanikos, Elias

    2010-01-01

    We investigated the relationship between challenging behavior and co-morbid psychopathology in adults with intellectual disability (ID) and autism spectrum disorders (ASDs) (N=124) as compared to adults with ID only (N=562). All participants were first time referrals to specialist mental health services and were living in community settings.…

  12. Diagnostic Utility of Heat Stable Alkaline Phosphatase in Hypertensive Disorders of Pregnancy

    PubMed Central

    Abu Raghavan, Srinivasan; Ghosh, Seethesh; Basu, Sharbari; Ramasamy, Ramesh; Murugaiyan, Sathish Babu

    2014-01-01

    Background: Hypertensive disorders in pregnancy (HDP) complicate 3-10% of all pregnancies. Though there are several biochemical parameters which aid in predicting hypertension of pregnancy, human placental alkaline phosphatase (PLAP), synthesized in placenta during pregnancy by placental syncytiotrophoblast, assumes diagnostic relevance. The purpose of this study was to compare the total alkaline phosphatase (ALP) and heat stable placental alkaline phosphatase (PLAP) levels in the serum of normotensive and hypertensive disorders of pregnancy and to evaluate the clinical utility of ALP and PLAP as a reliable, sensitive, specific and economical biochemical marker of HDP. Materials and Methods: This was a case control study, carried out on pregnant women with hypertension, of south Indian population. Study included pregnant women, 60 patients with hypertension and 60 controls. Biochemical assays were carried out by the IFCC approved procedures based on spectrophotometric method and using fully automated random access chemistry analyser. Data was compared by using student t-test. ROC was drawn to find out optimum cut off for ALP, PLAP and PLAP/ALP ratio in HDP. Pearson’s correlation was performed to ascertain the association among markers. Results: Serum total ALP, PLAP and PLAP/ALP ratio levels were significantly higher in hypertensive pregnant women when compared to controls (p<0.05). There was significant correlation among ALP, PLAP and DBP. ROC analysis of ALP (169.5), PLAP (69) and PLAP/ALP (0.44) ratios showed optimum cut-offs in diagnosis of hypertension in pregnancy. Conclusion: Serum heat stable ALP isoenzyme and PLAP/ALP ratio could be useful adjuvant markers in diagnosis of HDP in association with other relevant and economically viable biochemical tests. PMID:25584211

  13. Migration background and juvenile mental health: a descriptive retrospective analysis of diagnostic rates of psychiatric disorders in young people

    PubMed Central

    Gaber, Tilman Jakob; Bouyrakhen, Samira; Herpertz-Dahlmann, Beate; Hagenah, Ulrich; Holtmann, Martin; Freitag, Christine Margarete; Wöckel, Lars; Poustka, Fritz; Zepf, Florian Daniel

    2013-01-01

    Introduction This article presents diagnostic rates for specific mental disorders in a German pediatric inpatient population over a period of 20 years with respect to migration background and socioeconomic status (SES). Methods Diagnostic data were obtained over a period of 20 years from 8,904 patients who visited a child and adolescent psychiatry mental health service in Germany. Data from 5,985 diagnosed patients (ICD-9 and ICD-10 criteria) were included with respect to gender, migration background, and SES. Results Migration- and gender-specific effects were found for both periods of assessment. The group of boys with a migration background showed significantly higher rates of reactions to severe stress, adjustment disorders, and posttraumatic stress disorder compared to their male, non-migrant counterparts. Conversely, boys without a migration background showed a significantly higher percentage rate of hyperkinetic disorders than male migrants. Similar results were found for female migrants in the latter assessment period (ICD-10). In addition, female migrants showed lower rates of emotional disorders whose onset occurs in childhood compared to their non-migrant counterparts. Conclusions Data from this investigation provide preliminary evidence that the prevalence of various psychiatric disorders in children and adolescents is influenced by migration background and SES. PMID:23787053

  14. Distinguishing bipolar disorder from other psychiatric disorders in children.

    PubMed

    Singh, Manpreet K; Ketter, Terence; Chang, Kiki D

    2014-12-01

    Pediatric onset bipolar disorder (BD) is a challenging diagnosis with potentially debilitating outcomes. This review aims to critically evaluate recently published literature relevant to the diagnosis of BD in youth, emphasizing interesting and important new findings characterizing pediatric BD and reporting updates in the diagnostic and statistical manual relevant to this disorder in youth. Challenges regarding the diagnosis of BD will be discussed, in addition to important distinctions with other childhood disorders, including other bipolar spectrum disorders; major depressive disorder; dysthymia; disruptive mood dysregulation disorder (DMDD); attention-deficit/hyperactivity disorder (ADHD) and other disruptive behavioral disorders; anxiety disorders, including post-traumatic stress disorder (PTSD); psychotic disorders; autism spectrum disorders; substance use disorders; and borderline personality disorder. The review concludes with a comment on past research limitations and future directions in the field. PMID:25315116

  15. Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.

    PubMed

    Kutkowska-Kaźmierczak, Anna; Niepokój, Katarzyna; Wertheim-Tysarowska, Katarzyna; Giza, Aleksandra; Mordasewicz-Goliszewska, Maria; Bal, Jerzy; Obersztyn, Ewa

    2015-08-01

    Connexins belong to the family of gap junction proteins which enable direct cell-to-cell communication by forming channels in adjacent cells. Mutations in connexin genes cause a variety of human diseases and, in a few cases, result in skin disorders. There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis-ichthyosis-deafness (KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively. This is despite the fact that, in both cases, malfunctioning of the same family proteins and some overlapping clinical features (nail dystrophy, hair loss, and palmoplantar keratoderma) is observed. KID syndrome is characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss, whereas Clouston syndrome is characterized by nail dystrophy, hypotrichosis, and palmoplantar keratoderma. The present paper presents a Polish patient with sporadic KID syndrome caused by the mutation of p.Asp50Asn in GJB2. The patient encountered difficulties in obtaining a correct diagnosis. The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder. Phenotype diversity among patients with the same genotypes reported to date is also summarized. The conclusion is that proper diagnosis of these syndromes is still challenging and should always be followed by molecular verification. PMID:25575739

  16. Caregiver-mediated approaches to managing challenging behaviors in children with autism spectrum disorder.

    PubMed

    Grofer Klinger, Laura; Ence, Whitney; Meyer, Allison

    2013-06-01

    A significant proportion of children with autism spectrum disorder (ASD) are referred to mental health centers due to the presence of challenging behaviors. Because challenging behaviors in children and adolescents with ASD often result from underlying social and communication difficulties and comorbid anxiety, traditional caregiver-mediated behavior intervention techniques developed for children with disruptive behavior disorders may need to be adapted for this population. Behavioral interventions that target communication skills, social skills, anxiety, and sensory responsiveness in children with ASD may be needed. Notably, while best practice necessitates the involvement of caregivers in treating children and adolescents with ASD, few randomized control studies have examined the effectiveness of caregiver-implemented interventions in reducing challenging behaviors. This review summarizes the current literature with regard to caregiver-mediated behavioral interventions for children with ASD, and suggests areas for intervention development and research.

  17. The diagnostic utility of separation anxiety disorder symptoms: An item response theory analysis

    PubMed Central

    Cooper-Vince, Christine E.; Emmert-Aronson, Benjamin O.; Pincus, Donna B.; Comer, Jonathan S.

    2013-01-01

    At present, it is not clear whether the current definition of separation anxiety disorder (SAD) is the optimal classification of developmentally inappropriate, severe, and interfering separation anxiety in youth. Much remains to be learned about the relative contributions of individual SAD symptoms for informing diagnosis. Two-parameter logistic Item Response Theory analyses were conducted on the eight core SAD symptoms in an outpatient anxiety sample of treatment-seeking children (N=359, 59.3% female, MAge=11.2) and their parents to determine the diagnostic utility of each of these symptoms. Analyses considered values of item threshold, which characterize the SAD severity level at which each symptom has a 50% chance of being endorsed, and item discrimination, which characterize how well each symptom distinguishes individuals with higher and lower levels of SAD. Distress related to separation and fear of being alone without major attachment figures showed the strongest discrimination properties and the lowest thresholds for being endorsed. In contrast, worry about harm befalling attachment figures showed the poorest discrimination properties, and nightmares about separation showed the highest threshold for being endorsed. Distress related to separation demonstrated crossing differential item functioning associated with age—at lower separation anxiety levels excessive fear at separation was more likely to be endorsed for children ≥9 years, whereas at higher levels this symptom was more likely to be endorsed by children <9 years. Implications are discussed for optimizing the taxonomy of SAD in youth. PMID:23963543

  18. Should DSM-V include dimensional diagnostic criteria for alcohol use disorders?

    PubMed

    Helzer, John E; Bucholz, Kathleen K; Bierut, Laura Jean; Regier, Darrel A; Schuckit, Marc A; Guth, Sarah E

    2006-02-01

    This program calls attention to the upcoming timetable for the revision of the Diagnostic and Statistical Manual (DSM)-IV and the publication of DSM-V. It is vitally important for Research Society of Alcoholism members to be aware of the current discussions of the important scientific questions related to the next DSM revision and to use the opportunity for input. The title of the symposium highlights 1 key question, i.e., whether the DSM definitions should remain strictly categorical as in the past or whether a dimensional component should be included in this revision. Two substantive and 1 conceptual paper are included in this portion of the symposium. The fourth and final presentation detailing the revision timetable and the opportunities for input is by Dr. Darrel Regier. Dr. Regier is the director of American Psychiatric Institute for Research and Education the research and education branch of the American Psychiatric Association and the organization within the APA that will oversee the DSM revision. The discussion is by Marc Schuckit, who was chair of the Substance Use disorders (SUD) Committee for DSM-IV and cochair of the international group of experts reviewing the SUD definitions for DSM-V. PMID:16441279

  19. Nonsuicidal self-injury disorder: Does Criterion B add diagnostic utility?

    PubMed

    Brausch, Amy M; Muehlenkamp, Jennifer J; Washburn, Jason J

    2016-10-30

    The current paper evaluates Criterion B for Non-Suicidal Self-Injury Disorder, which states that non-suicidal self-injury (NSSI) must occur for at least one function. The majority of individuals who engage in NSSI report at least one function, so it is unclear if Criterion B provides diagnostic utility in individuals who already meet Criterion A (i.e., NSSI occurring on 5 or more days in the past 12 months). This paper compared individuals meeting Criterion A (threshold group) to those with 1-4 acts of NSSI in the past year (subthreshold group) in two different samples. The first sample included 217 undergraduate students, and the second sample included 1082 individuals from a behavioral health hospital, all with past-year NSSI. The majority of both samples reported at least one function of NSSI (99%). For the undergraduate sample, the number of and level of endorsement of functions were similar across threshold and subthreshold groups. For the behavioral health sample, the threshold group endorsed significantly more functions for NSSI and greater endorsement of affect regulation, self-punishment, and toughness compared to the subthreshold group. While some differences were found between NSSI groups, overall endorsement of functions for NSSI appears to be a universal characteristic regardless of NSSI frequency.

  20. Virtual Reality to Train Diagnostic Skills in Eating Disorders. Comparison of two Low Cost Systems.

    PubMed

    Gutiérrez-Maldonado, José; Ferrer-García, Marta; Plasanjuanelo, Joana; Andrés-Pueyo, Antonio; Talarn-Caparrós, Antoni

    2015-01-01

    Enhancing the ability to perform differential diagnosis and psychopathological exploration is important for students who wish to work in the clinical field, as well as for professionals already working in this area. Virtual reality (VR) simulations can immerse students totally in educational experiences in a way that is not possible using other methods. Learning in a VR environment can also be more effective and motivating than usual classroom practices. Traditionally, immersion has been considered central to the quality of a VR system; immersive VR is considered a special and unique experience that cannot achieved by three-dimensional (3D) interactions on desktop PCs. However, some authors have suggested that if the content design is emotionally engaging, immersive systems are not always necessary. The main purpose of this study is to compare the efficacy and usability of two low-cost VR systems, offering different levels of immersion, in order to develop the ability to perform diagnostic interviews in eating disorders by means of simulations of psychopathological explorations. PMID:26799883

  1. Nonsuicidal self-injury disorder: Does Criterion B add diagnostic utility?

    PubMed

    Brausch, Amy M; Muehlenkamp, Jennifer J; Washburn, Jason J

    2016-10-30

    The current paper evaluates Criterion B for Non-Suicidal Self-Injury Disorder, which states that non-suicidal self-injury (NSSI) must occur for at least one function. The majority of individuals who engage in NSSI report at least one function, so it is unclear if Criterion B provides diagnostic utility in individuals who already meet Criterion A (i.e., NSSI occurring on 5 or more days in the past 12 months). This paper compared individuals meeting Criterion A (threshold group) to those with 1-4 acts of NSSI in the past year (subthreshold group) in two different samples. The first sample included 217 undergraduate students, and the second sample included 1082 individuals from a behavioral health hospital, all with past-year NSSI. The majority of both samples reported at least one function of NSSI (99%). For the undergraduate sample, the number of and level of endorsement of functions were similar across threshold and subthreshold groups. For the behavioral health sample, the threshold group endorsed significantly more functions for NSSI and greater endorsement of affect regulation, self-punishment, and toughness compared to the subthreshold group. While some differences were found between NSSI groups, overall endorsement of functions for NSSI appears to be a universal characteristic regardless of NSSI frequency. PMID:27479110

  2. The diagnostic utility of separation anxiety disorder symptoms: an item response theory analysis.

    PubMed

    Cooper-Vince, Christine E; Emmert-Aronson, Benjamin O; Pincus, Donna B; Comer, Jonathan S

    2014-01-01

    At present, it is not clear whether the current definition of separation anxiety disorder (SAD) is the optimal classification of developmentally inappropriate, severe, and interfering separation anxiety in youth. Much remains to be learned about the relative contributions of individual SAD symptoms for informing diagnosis. Two-parameter logistic Item Response Theory analyses were conducted on the eight core SAD symptoms in an outpatient anxiety sample of treatment-seeking children (N = 359, 59.3 % female, M Age = 11.2) and their parents to determine the diagnostic utility of each of these symptoms. Analyses considered values of item threshold, which characterize the SAD severity level at which each symptom has a 50 % chance of being endorsed, and item discrimination, which characterize how well each symptom distinguishes individuals with higher and lower levels of SAD. Distress related to separation and fear of being alone without major attachment figures showed the strongest discrimination properties and the lowest thresholds for being endorsed. In contrast, worry about harm befalling attachment figures showed the poorest discrimination properties, and nightmares about separation showed the highest threshold for being endorsed. Distress related to separation demonstrated crossing differential item functioning associated with age-at lower separation anxiety levels excessive fear at separation was more likely to be endorsed for children ≥9 years, whereas at higher levels this symptom was more likely to be endorsed by children <9 years. Implications are discussed for optimizing the taxonomy of SAD in youth.

  3. Should A2 be a diagnostic requirement for posttraumatic stress disorder in DSM-V?

    PubMed

    O'Donnell, Meaghan L; Creamer, Mark; McFarlane, Alexander C; Silove, Derrick; Bryant, Richard A

    2010-04-30

    The requirement that trauma survivors experience fear, helplessness or horror (Criterion A2) as a part of their posttraumatic stress disorder (PTSD) diagnosis was introduced into DSM-IV. The imminent re-definition of PTSD in DSM-V highlights the need for empirical studies to validate the utility of the A2 requirement. We aimed to identify (i) how often A2 was associated with PTSD (B-F criteria) at 3 months after trauma and (ii) what was the peritraumatic emotional experience for those who met PTSD criteria but were A2 negative. In a prospective design cohort study we assessed the peritraumatic emotional experience of 535 injury patients in four Australian hospitals. These patients were followed up 3 months later and assessed for PTSD using a structured clinical interview. The majority of those who developed PTSD (B-F criterion) at 3 months met A2 criteria. A substantial minority, however (23%), did not meet A2 criteria. Those PTSD patients who were A2 negative fell into three groups: (i) those who experienced subthreshold levels of A2; (ii) those who experienced intense peritrauma emotional responses other than fear, helplessness or horror; and (iii) those who were amnesic to their peritrauma emotional experience. These findings do not support the inclusion of A2 as diagnostic requirement for DSM-V.

  4. Should DSM-V include dimensional diagnostic criteria for alcohol use disorders?

    PubMed

    Helzer, John E; Bucholz, Kathleen K; Bierut, Laura Jean; Regier, Darrel A; Schuckit, Marc A; Guth, Sarah E

    2006-02-01

    This program calls attention to the upcoming timetable for the revision of the Diagnostic and Statistical Manual (DSM)-IV and the publication of DSM-V. It is vitally important for Research Society of Alcoholism members to be aware of the current discussions of the important scientific questions related to the next DSM revision and to use the opportunity for input. The title of the symposium highlights 1 key question, i.e., whether the DSM definitions should remain strictly categorical as in the past or whether a dimensional component should be included in this revision. Two substantive and 1 conceptual paper are included in this portion of the symposium. The fourth and final presentation detailing the revision timetable and the opportunities for input is by Dr. Darrel Regier. Dr. Regier is the director of American Psychiatric Institute for Research and Education the research and education branch of the American Psychiatric Association and the organization within the APA that will oversee the DSM revision. The discussion is by Marc Schuckit, who was chair of the Substance Use disorders (SUD) Committee for DSM-IV and cochair of the international group of experts reviewing the SUD definitions for DSM-V.

  5. Diagnostic imaging for spinal disorders in the elderly: a narrative review

    PubMed Central

    2012-01-01

    The high prevalence of neck and low back pain in the rapidly aging population is associated with significant increases in health care expenditure. While spinal imaging can be useful to identify less common causes of neck and back pain, overuse and misuse of imaging services has been widely reported. This narrative review aims to provide primary care providers with an overview of available imaging studies with associated potential benefits, adverse effects, and costs for the evaluation of neck and back pain disorders in the elderly population. While the prevalence of arthritis and degenerative disc disease increase with age, fracture, infection, and tumor remain uncommon. Prevalence of other conditions such as spinal stenosis and abdominal aortic aneurysm (AAA) also increase with age and demand special considerations. Radiography of the lumbar spine is not recommended for the early management of non-specific low back pain in adults under the age of 65. Aside from conventional radiography for suspected fracture or arthritis, magnetic resonance imaging (MRI) and computed tomography (CT) offer better characterization of most musculoskeletal diseases. If available, MRI is usually preferred over CT because it involves less radiation exposure and has better soft-tissue visualization. Use of subspecialty radiologists to interpret diagnostic imaging studies is recommended. PMID:22625868

  6. Should A2 be a diagnostic requirement for posttraumatic stress disorder in DSM-V?

    PubMed

    O'Donnell, Meaghan L; Creamer, Mark; McFarlane, Alexander C; Silove, Derrick; Bryant, Richard A

    2010-04-30

    The requirement that trauma survivors experience fear, helplessness or horror (Criterion A2) as a part of their posttraumatic stress disorder (PTSD) diagnosis was introduced into DSM-IV. The imminent re-definition of PTSD in DSM-V highlights the need for empirical studies to validate the utility of the A2 requirement. We aimed to identify (i) how often A2 was associated with PTSD (B-F criteria) at 3 months after trauma and (ii) what was the peritraumatic emotional experience for those who met PTSD criteria but were A2 negative. In a prospective design cohort study we assessed the peritraumatic emotional experience of 535 injury patients in four Australian hospitals. These patients were followed up 3 months later and assessed for PTSD using a structured clinical interview. The majority of those who developed PTSD (B-F criterion) at 3 months met A2 criteria. A substantial minority, however (23%), did not meet A2 criteria. Those PTSD patients who were A2 negative fell into three groups: (i) those who experienced subthreshold levels of A2; (ii) those who experienced intense peritrauma emotional responses other than fear, helplessness or horror; and (iii) those who were amnesic to their peritrauma emotional experience. These findings do not support the inclusion of A2 as diagnostic requirement for DSM-V. PMID:20207009

  7. The history of nosology and the rise of the Diagnostic and Statistical Manual of Mental Disorders

    PubMed Central

    Shorter, Edward

    2015-01-01

    The current Diagnostic and Statistical Manual of Mental Disorders (DSM)-5 arose from a tradition filled with haphazard science and politically driven choices. The nosology of modern psychiatry began with the German classifiers of the late 19th century, especially Emil Kraepelin. Psychoanalysis then blotted out the classificatory vision for the next half-century, and most of this European psychopathological science failed to cross the Atlantic. The DSM series was a homegrown American product, beginning with Medical 203 in 1945, then guided by psychoanalytic insights through DSM-I in 1952 and DSM-II in 1968. In 1980, DSM-III represented a massive “turning of the page” in nosology, and it had the effect of steering psychoanalysis toward the exit in psychiatry and the beginning of a reconciliation of psychiatry with the rest of medicine. With the advent of DSM-5, however, questions are starting to be asked about whether this massive venture is on the right track. PMID:25987864

  8. Confirmed Zika virus infection in a Belgian traveler returning from Guatemala, and the diagnostic challenges of imported cases into Europe.

    PubMed

    De Smet, Birgit; Van den Bossche, Dorien; van de Werve, Charlotte; Mairesse, Jacques; Schmidt-Chanasit, Jonas; Michiels, Jo; Ariën, Kevin K; Van Esbroeck, Marjan; Cnops, Lieselotte

    2016-07-01

    We report the first laboratory-confirmed Zika virus (ZIKV) infection in a Belgian traveler after a three week holiday in Guatemala, December 2015. This case along with other imported cases into Europe emphases once again the need for accurate diagnostic tools for this rapidly emerging virus. The challenge is to diagnose patients in the acute phase, which appears short, as serological testing is complicated by cross-reactivity, vaccination status and scarce availability of specific ZIKV tests.

  9. Confirmed Zika virus infection in a Belgian traveler returning from Guatemala, and the diagnostic challenges of imported cases into Europe.

    PubMed

    De Smet, Birgit; Van den Bossche, Dorien; van de Werve, Charlotte; Mairesse, Jacques; Schmidt-Chanasit, Jonas; Michiels, Jo; Ariën, Kevin K; Van Esbroeck, Marjan; Cnops, Lieselotte

    2016-07-01

    We report the first laboratory-confirmed Zika virus (ZIKV) infection in a Belgian traveler after a three week holiday in Guatemala, December 2015. This case along with other imported cases into Europe emphases once again the need for accurate diagnostic tools for this rapidly emerging virus. The challenge is to diagnose patients in the acute phase, which appears short, as serological testing is complicated by cross-reactivity, vaccination status and scarce availability of specific ZIKV tests. PMID:27128355

  10. DIAGNOSTIC CLASSIFICATION OF MENTAL HEALTH AND DEVELOPMENTAL DISORDERS OF INFANCY AND EARLY CHILDHOOD DC:0-5: SELECTIVE REVIEWS FROM A NEW NOSOLOGY FOR EARLY CHILDHOOD PSYCHOPATHOLOGY.

    PubMed

    Zeanah, Charles H; Carter, Alice S; Cohen, Julie; Egger, Helen; Gleason, Mary Margaret; Keren, Miri; Lieberman, Alicia; Mulrooney, Kathleen; Oser, Cindy

    2016-09-01

    The Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood: Revised Edition (DC:0-5; ZERO TO THREE) is scheduled to be published in 2016. The articles in this section are selective reviews that have been undertaken as part of the process of refining and updating the nosology. They provide the rationales for new disorders, for disorders that had not been included previously in the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood: Revised Edition (DC:0-3R; ZERO TO THREE, 2005), and for changes in how certain types of disorders are conceptualized.

  11. DIAGNOSTIC CLASSIFICATION OF MENTAL HEALTH AND DEVELOPMENTAL DISORDERS OF INFANCY AND EARLY CHILDHOOD DC:0-5: SELECTIVE REVIEWS FROM A NEW NOSOLOGY FOR EARLY CHILDHOOD PSYCHOPATHOLOGY.

    PubMed

    Zeanah, Charles H; Carter, Alice S; Cohen, Julie; Egger, Helen; Gleason, Mary Margaret; Keren, Miri; Lieberman, Alicia; Mulrooney, Kathleen; Oser, Cindy

    2016-09-01

    The Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood: Revised Edition (DC:0-5; ZERO TO THREE) is scheduled to be published in 2016. The articles in this section are selective reviews that have been undertaken as part of the process of refining and updating the nosology. They provide the rationales for new disorders, for disorders that had not been included previously in the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood: Revised Edition (DC:0-3R; ZERO TO THREE, 2005), and for changes in how certain types of disorders are conceptualized. PMID:27570937

  12. Impact of obesity on the psychometric properties of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for major depressive disorder.

    PubMed

    Zimmerman, Mark; Hrabosky, Joshua I; Francione, Caren; Young, Diane; Chelminski, Iwona; Dalrymple, Kristy; Galione, Janine N

    2011-01-01

    Obesity is associated with several symptoms that are components of the diagnostic criteria for major depressive disorder (MDD). Compared with nonobese individuals, obese individuals report more fatigue, sleep disturbance, and overeating. Obesity might, therefore, impact the psychometric properties of the MDD criteria. The goal of the present report from the Rhode Island Hospital Methods to Improve Diagnostic Assessment and Services project was to examine the impact of obesity on the psychometric characteristics of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition symptom criteria for major depression. Two thousand four hundred forty-eight psychiatric outpatients were administered a semistructured diagnostic interview. We inquired about all symptoms of depression for all patients. The mean sensitivity of the 9 criteria in the nonobese and obese patients was nearly identical (74.6% vs 74.3%). The mean specificity was slightly higher in the nonobese patients (82.0% vs 79.5%). No symptom was more specific in the obese than the nonobese patients, whereas the specificity of increased appetite, increased weight, and fatigue was more than 5% lower in the obese patients. Increased appetite, increased weight, hypersomnia, and fatigue had a higher sensitivity in the obese than the nonobese patients, whereas decreased appetite, weight loss, and diminished concentration had a higher sensitivity in the nonobese than the obese patients. Thus, although there were small differences between obese and nonobese patients in the operating characteristics of some symptoms, the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for MDD generally performed equally well for obese and nonobese patients.

  13. Comparison of dissociative identity disorder with other diagnostic groups using a structured interview in Turkey.

    PubMed

    Yargiç, L I; Sar, V; Tutkun, H; Alyanak, B

    1998-01-01

    Twenty patients with dissociative identity disorder (DID), 20 with schizophrenic disorder, 20 with panic disorder, and 20 with complex partial epilepsy were evaluated with the Dissociative Disorders Interview Schedule (DDIS) and the Dissociative Experiences Scale (DES). Subjects with dissociative identity disorder were more frequently diagnosed as having somatization disorder, past or concurrent major depressive episode, borderline personality disorder, depersonalization disorder, and dissociative amnesia than other groups. They reported Schneiderian symptoms and extrasensory perceptions more frequently. In their anamnesis suicide attempts, trance states, sleepwalking, and childhood traumas were more frequent than those in comparison groups. The secondary features of dissociative identity disorder and the DES score differentiated these patients from comparison groups significantly. DID has a set of clinical features different from that of schizophrenic disorder, panic disorder and complex partial epilepsy. The differences are similar to those yielded previously in studies from North America.

  14. Enterprises and challenges in diagnostics for precision medicine: an interview with Eddie Blair.

    PubMed

    Blair, Eddie; Raison, Claire

    2015-01-01

    Interview with Dr Eddie Blair, PhD, by Claire Raison (Commissioning Editor) Dr Eddie Blair is Managing Director of Integrated Medicines Ltd (Cambridge, UK), a company he formed in 2003 to enable precision medicine by combining diagnostic testing with new and existing medicines. Dr Blair has raised angel and private equity investments in excess of £12 million, has published over 40 primary peer-reviewed papers, including a series on companion diagnostic valuation, and is named inventor on at least 12 patents. Dr Blair is a member of the Editorial Advisory Board of Expert Review of Molecular Diagnostics and speaks to the Commissioning Editor here about entrepreneurship, obstacles and potential of introducing diagnostics innovations into routine clinical practice. PMID:26560159

  15. Using Copula Distributions to Support More Accurate Imaging-Based Diagnostic Classifiers for Neuropsychiatric Disorders

    PubMed Central

    Bansal, Ravi; Hao, Xuejun; Liu, Jun; Peterson, Bradley S.

    2014-01-01

    Many investigators have tried to apply machine learning techniques to magnetic resonance images (MRIs) of the brain in order to diagnose neuropsychiatric disorders. Usually the number of brain imaging measures (such as measures of cortical thickness and measures of local surface morphology) derived from the MRIs (i.e., their dimensionality) has been large (e.g. >10) relative to the number of participants who provide the MRI data (<100). Sparse data in a high dimensional space increases the variability of the classification rules that machine learning algorithms generate, thereby limiting the validity, reproducibility, and generalizability of those classifiers. The accuracy and stability of the classifiers can improve significantly if the multivariate distributions of the imaging measures can be estimated accurately. To accurately estimate the multivariate distributions using sparse data, we propose to estimate first the univariate distributions of imaging data and then combine them using a Copula to generate more accurate estimates of their multivariate distributions. We then sample the estimated Copula distributions to generate dense sets of imaging measures and use those measures to train classifiers. We hypothesize that the dense sets of brain imaging measures will generate classifiers that are stable to variations in brain imaging measures, thereby improving the reproducibility, validity, and generalizability of diagnostic classification algorithms in imaging datasets from clinical populations. In our experiments, we used both computer-generated and real-world brain imaging datasets to assess the accuracy of multivariate Copula distributions in estimating the corresponding multivariate distributions of real-world imaging data. Our experiments showed that diagnostic classifiers generated using imaging measures sampled from the Copula were significantly more accurate and more reproducible than were the classifiers generated using either the real-world imaging

  16. Autism according to diagnostic and statistical manual of mental disorders 5(th) edition: The need for further improvements.

    PubMed

    Posar, Annio; Resca, Federica; Visconti, Paola

    2015-01-01

    The fifth edition of the diagnostic and statistical manual of mental disorders (DSM-5) introduced significant changes in the classification of autism spectrum disorders (ASD), including the abolition of the diagnostic subcategories proposed by DSM-IV-Text Revision. DSM-5 describes three levels of increasing severity of ASD. The authors report two explanatory cases with ASD (verbal boys, aged about 7 and a half years, without intellectual disability). According to DSM-5, both cases fall into the lowest severity level of ASD. However, their neuropsychological and neurobehavioral profile varies significantly. While the first boy showed a prevalent impairment of visuoconstructional and visuoperceptual abilities, the second one presented a predominant involvement of verbal functions, with qualitative impairments in communication. A further step forward in the definition and classification of ASD, taking into account both intensity and quality of symptoms, is recommended in order to formulate a reliable prognosis, plan an individualized treatment and monitor the clinical course over time.

  17. Scientific Forum on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V)—An Invitation

    PubMed Central

    2010-01-01

    The publication of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V) is anticipated in May 2013 with many new additions and changes. In this article, the author summarizes the phases of psychiatric classification from the turn of the 20th century until today. Psychiatry 2010 offers a DSM-V Scientific Forum and invites readers to submit comments, recommendations, and articles to Psychiatry 2010 and DSM-V Task Force. PMID:21191531

  18. Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an Adult Autism Spectrum Disorder Diagnostic Clinic

    ERIC Educational Resources Information Center

    Wilson, C. Ellie; Gillan, Nicola; Spain, Deborah; Robertson, Dene; Roberts, Gedeon; Murphy, Clodagh M.; Maltezos, Stefanos; Zinkstok, Janneke; Johnston, Katie; Dardani, Christina; Ohlsen, Chris; Deeley, P. Quinton; Craig, Michael; Mendez, Maria A.; Happé, Francesca; Murphy, Declan G. M.

    2013-01-01

    An Autism Spectrum Disorder (ASD) diagnosis is often used to access services. We investigated whether ASD diagnostic outcome varied when DSM-5 was used compared to ICD-10R and DSM-IV-TR in a clinical sample of 150 intellectually able adults. Of those diagnosed with an ASD using ICD-10R, 56% met DSM-5 ASD criteria. A further 19% met DSM-5 (draft)…

  19. Scientific Forum on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V)-An Invitation.

    PubMed

    Aboraya, Ahmed

    2010-11-01

    The publication of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V) is anticipated in May 2013 with many new additions and changes. In this article, the author summarizes the phases of psychiatric classification from the turn of the 20th century until today. Psychiatry 2010 offers a DSM-V Scientific Forum and invites readers to submit comments, recommendations, and articles to Psychiatry 2010 and DSM-V Task Force.

  20. Challenges in the diagnosis and treatment of depression in autism spectrum disorders across the lifespan.

    PubMed

    Chandrasekhar, Tara; Sikich, Linmarie

    2015-06-01

    Diagnosis and treatment of comorbid neuropsychiatric illness is often a secondary focus of treatment in individuals with autism spectrum disorder (ASD), given that substantial impairment may be caused by core symptoms of ASD itself. However, psychiatric comorbidities, including depressive disorders, are common and frequently result in additional functional impairment, treatment costs, and burden on caregivers. Clinicians may struggle to appropriately diagnose depression in ASD due to communication deficits, atypical presentation of depression in ASD, and lack of standardized diagnostic tools. Specific risk and resilience factors for depression in ASD across the lifespan, including level of functioning, age, family history, and coping style, have been suggested, but require further study. Treatment with medications or psychotherapy may be beneficial, though more research is required to establish guidelines for management of symptoms. This review will describe typical presentations of depression in individuals with ASD, review current information on the prevalence, assessment, and treatment of comorbid depression in individuals with ASD, and identify important research gaps.

  1. Reliability and validity of Axis I of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) with proposed revisions.

    PubMed

    Look, J O; Schiffman, E L; Truelove, E L; Ahmad, M

    2010-10-01

      The research diagnostic criteria for temporomandibular disorders (RDC/TMD) have been employed internationally since 1992 for the study of temporomandibular muscle and joint disorders (TMD). This diagnostic protocol incorporates a dual system for assessment of TMD for Axis I physical diagnoses as well as Axis II psychological status and pain-related disability. Because the reliability and criterion validity of RDC/TMD had not yet been comprehensively characterised, the National Institute of Dental and Craniofacial Research funded in 2001 the most definitive research to date on the RDC/TMD as a U01 project entitled, 'Research Diagnostic Criteria: Reliability and Validity'. The results of this multi-site collaboration involving the University of Minnesota, the University of Washington, and the University at Buffalo were first reported at a pre-session workshop of the Toronto general session of the International Association of Dental Research on 2 July 2008. Summaries of five reports from this meeting are presented in this paper including: (i) reliability of RDC/TMD Axis I diagnoses based on clinical signs and symptoms; (ii) reliability of radiographic interpretations used for RDC/TMD Axis I diagnoses; (iii) reliability of self-report data used for RDC/TMD Axis I diagnoses; (iv) validity of RDC/TMD Axis I diagnoses based on clinical signs and symptoms; and (v) proposed revisions of the RDC/TMD Axis I diagnostic algorithms.

  2. A Comparison of DSM-5 and DSM-IV Diagnostic Criteria for Posttraumatic Stress Disorder in Traumatized Refugees.

    PubMed

    Schnyder, Ulrich; Müller, Julia; Morina, Naser; Schick, Matthis; Bryant, Richard A; Nickerson, Angela

    2015-08-01

    The aim of this study was to compare the prevalence rate and factor structure of posttraumatic stress disorder (PTSD) based on the diagnostic criteria of the fourth and fifth editions of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV; DSM-5; American Psychiatric Association, , ) in traumatized refugees. There were 134 adult treatment-seeking, severely and multiply traumatized patients from various refugee backgrounds were assessed in their mother tongue using a computerized set of questionnaires consisting of a trauma list, the Posttraumatic Diagnostic Scale, and the new PTSD items that had been suggested by the DSM-5 Task Force of the American Psychiatric Association. Using DSM-IV, 60.4% of participants met diagnostic criteria for PTSD; using DSM-5, only 49.3% fulfilled all criteria (p < .001). Confirmatory factor analysis of DSM-IV and DSM-5 items showed good and comparable model fits. Furthermore, classification functions in the DSM-5 were satisfactory. The new Cluster D symptoms showed relatively high sensitivity, specificity, positive predictive power, and negative predictive power. The DSM-5 symptom structure appears to be applicable to traumatized refugees. Negative alterations in cognitions and mood may be especially useful for clinicians, not only to determine the extent to which an individual refugee is likely to meet criteria for PTSD, but also in providing targets for clinical intervention.

  3. Comparing the utility of DSM-5 Section II and III antisocial personality disorder diagnostic approaches for capturing psychopathic traits.

    PubMed

    Few, Lauren R; Lynam, Donald R; Maples, Jessica L; MacKillop, James; Miller, Joshua D

    2015-01-01

    The current study compares the 2 diagnostic approaches (Section II vs. Section III) included in the Diagnostic and Statistical Manual for Mental Disorders-5 (DSM-5; American Psychiatric Association, 2013) for diagnosis of antisocial personality disorder (ASPD) in terms of their relations with psychopathic traits and externalizing behaviors (EBs). The Section III approach to ASPD, which is more explicitly trait-based than the Section II approach, also includes a psychopathy specifier (PS) that was created with the goal of making the diagnosis of ASPD more congruent with psychopathy. In a community sample of individuals currently receiving mental health treatment (N = 106), ratings of the 2 DSM-5 diagnostic approaches were compared in relation to measures of psychopathy, as well as indices of EBs. Both DSM-5 ASPD approaches were significantly related to the psychopathy scores, although the Section III approach accounted for almost twice the amount of variance when compared with the Section II approach. Relatively little of this predictive advantage, however, was due to the PS, as these traits manifested little evidence of incremental validity in relation to existing psychopathy measures and EBs, with the exception of a measure of fearless dominance. Overall, the DSM-5 Section III diagnostic approach for ASPD is more convergent with the construct of psychopathy, from which ASPD was originally derived. These improvements, however, are due primarily to the new trait-based focus in the Section III ASPD diagnosis rather than the assessment of personality dysfunction or the inclusion of additional "psychopathy-specific" traits.

  4. Research Diagnostic Criteria for Temporomandibular Disorders: Reliability of Axis I Diagnoses and Selected Clinical Measures

    PubMed Central

    Look, John O.; John, Mike T.; Tai, Feng; Huggins, Kimberly H.; Lenton, Patricia A.; Truelove, Edmond L.; Ohrbach, Richard; Anderson, Gary C.; Schiffman, Eric L.

    2011-01-01

    AIM To estimate inter-examiner reliability of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) protocol. METHODS Kappa (k), computed by generalized estimate equation procedures, was selected as the primary estimate of inter-examiner reliability. Intersite reliability of six examiners from 3 study sites was assessed annually over the 5-year period of the RDC/TMD Validation Project. Intrasite reliability was monitored throughout the validation study by comparing RDC/TMD data collections performed on the same day by the test examiner and a criterion examiner. RESULTS Intersite calibrations included a total of 180 subjects. Intersite reliability of RDC/TMD diagnoses was excellent (k > 0.75) when myofascial pain diagnoses (Ia or Ib) were grouped. Good reliability was observed for discrete myofascial pain diagnoses, Ia (k = 0.62) and Ib (k = 0.58), for disc displacement with reduction (k = 0.63), disc displacement without reduction with limited opening (k = 0.62), arthralgia (k = 0.55), and when joint pain (IIIa or IIIb) was grouped (k = 0.59). Reliability of less frequently observed diagnoses such as disc displacements without reduction without limited opening, and osteoarthrosis (IIIb, IIIc), was poor to marginally fair (k = 0.31- 0.43). Intrasite monitoring results (n = 705) approximated well intersite reliability estimates. The greatest difference in paired estimates was 0.18 (IIc). CONCLUSION Reliability of the RDC/TMD protocol was good to excellent for myofascial pain, arthralgia, disc displacement with reduction, and disc displacement without reduction with limited opening. Reliability was poor to marginally fair for disc displacement without reduction without limited opening and osteoarthrosis. PMID:20213029

  5. Primary systemic amyloidosis as a real diagnostic challenge – case study

    PubMed Central

    Jerzykowska, Sonia; Gil, Lidia A.; Balcerzak, Andrzej; Pupek-Musialik, Danuta; Komarnicki, Mieczysław A.

    2014-01-01

    Primary amyloidosis (AL) is a rare variety of plasma cell dyscrasia, the diagnosis of which is often difficult to establish. Pathogenesis of amyloidosis involves extracellular deposition of insoluble protein fibrils in tissues, leading to insufficiency of affected organs. According to various sources, mean survival rate of patients with primary amyloidosis ranges from 12 to 24 months, making primary amyloidosis a disease with a very poor prognosis. Survival rate is significantly lowered in case of cardiac manifestation of amyloidosis (about 6 months survival in untreated patients). In recent years a considerable progress in AL treatment has been observed. Nowadays we are able not only to delay progression of amyloidosis, but also to improve the function of the affected organs. Unfortunately as first signs and symptoms of AL are usually nonspecific, the diagnosis of AL is often delayed, resulting in late introduction of optimal therapy. There are many diagnostic tests which can be used in diagnostic process of amyloidosis, i.e. electrophoresis, serum and urine immunofixation or affected organs and bone marrow biopsy. On establishing the diagnosis in a patient with suspected amyloidosis it should be remembered that particular diagnostic methods vary considerably in sensitivity. The aim of this paper is to present a case report of a 27-year-old patient with primary amyloidosis focusing on diagnostic aspect of this condition. On the basis of this case, the authors would like to emphasize the value of precise diagnostic process, with immunological techniques playing undoubtedly a crucial role. PMID:26155101

  6. Reliability and Diagnostic Efficiency of the Diagnostic Inventory for Disharmony (DID) in Youths with Pervasive Developmental Disorder and Multiple Complex Developmental Disorder

    ERIC Educational Resources Information Center

    Xavier, Jean; Vannetzel, Leonard; Viaux, Sylvie; Leroy, Arthur; Plaza, Monique; Tordjman, Sylvie; Mille, Christian; Bursztejn, Claude; Cohen, David; Guile, Jean-Marc

    2011-01-01

    The Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) category is a psychopathological entity few have described and is poorly, and mainly negatively, defined by autism exclusion. In order to limit PDD-NOS heterogeneity, alternative clinical constructs have been developed. This study explored the reliability and the diagnostic…

  7. Mind the gap: assessing impairment among children affected by proposed revisions to the diagnostic criteria for oppositional defiant disorder.

    PubMed

    Keenan, Kate

    2012-05-01

    The Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition (DSM-5) workgroup for disruptive behavior disorders is considering adopting a frequency threshold for symptoms of oppositional defiant disorder (ODD). In the present study, the impact of substituting the term "often" with a specific age-based frequency on impairment and prognosis among preschool children was tested in a longitudinal design. Mutually exclusive groups were created to identify children who met criteria for ODD based on a symptom threshold of "often," as in Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition (DSM-4), and those that met criteria for ODD based on a threshold of "1-2 times per day," which approximated the proposal for DSM-5. Comparisons of these groups to each other and to nondiagnosed peers determined the impact of changing the symptom threshold on impairment and prognosis. Close to one-third of children who met DSM-4 criteria for ODD did not meet criteria under the alternative diagnosis; African American children were overrepresented in this group. Preschoolers who met DSM-4, but not the alternative criteria, had higher rates of ODD, conduct disorder (CD), and were more impaired than their nondiagnosed peers at baseline and follow-up. Preschoolers meeting DSM-4 criteria were less impaired than children meeting the alternative ODD criteria at baseline according to parent, but not according to teacher report. No differences could be detected between those meeting DSM-4 and those meeting the alternative criteria in rate of ODD, CD, or impairment at follow-up. Among clinically referred preschool children, changing the symptom threshold for ODD could result in a sizable group of children who would no longer meet diagnostic criteria, despite demonstrating significant morbidity concurrently and prospectively.

  8. Post-traumatic shoulder movement disorders: A challenging differential diagnosis between organic and functional

    PubMed Central

    Pandey, Sanjay; Nahab, Fatta; Aldred, Jason; Nutt, John; Hallett, Mark

    2014-01-01

    Peripheral trauma may be a trigger for the development of various movement disorders though the pathophysiology remains controversial and some of these patients have a functional (psychogenic) disorder. We report 3 cases of shoulder movement disorders following trauma to the shoulder region. Physiology was done in all the patients to extend the physical examination. Two patients had history of recurrent shoulder dislocation and were diagnosed with Ehlers-Danlos syndrome. One patient had shoulder injury following repeated falls while performing as a cheerleader. In two patients there were some clinical features suggesting a functional etiology, but physiological studies in all three failed to produce objective evidence of a functional nature. Shoulder movement following trauma is uncommon. Diagnosis in such cases is challenging considering the complex pathophysiology. The movements can be associated with prolonged pain and handicap, and once established they appear resistant to treatment. PMID:25197686

  9. Post-traumatic shoulder movement disorders: A challenging differential diagnosis between organic and functional.

    PubMed

    Pandey, Sanjay; Nahab, Fatta; Aldred, Jason; Nutt, John; Hallett, Mark

    2014-06-01

    Peripheral trauma may be a trigger for the development of various movement disorders though the pathophysiology remains controversial and some of these patients have a functional (psychogenic) disorder. We report 3 cases of shoulder movement disorders following trauma to the shoulder region. Physiology was done in all the patients to extend the physical examination. Two patients had history of recurrent shoulder dislocation and were diagnosed with Ehlers-Danlos syndrome. One patient had shoulder injury following repeated falls while performing as a cheerleader. In two patients there were some clinical features suggesting a functional etiology, but physiological studies in all three failed to produce objective evidence of a functional nature. Shoulder movement following trauma is uncommon. Diagnosis in such cases is challenging considering the complex pathophysiology. The movements can be associated with prolonged pain and handicap, and once established they appear resistant to treatment. PMID:25197686

  10. The Grape Antioxidant Resveratrol for Skin Disorders: Promise, Prospects, and Challenges

    PubMed Central

    Ndiaye, Mary; Philippe, Carol; Mukhtar, Hasan; Ahmad, Nihal

    2011-01-01

    Resveratrol, a phytoalexin antioxidant found in red grapes, has been shown to have both chemopreventive and therapeutic effects against many diseases and disorders, including those of the skin. Studies have shown protective effects of resveratrol against ultraviolet radiation mediated oxidative stress and cutaneous damages including skin cancer. Because many of the skin conditions stem from ultraviolet radiation and oxidative stress, this antioxidant appears to have promise and prospects against a wide range of cutaneous disorders including skin aging and skin cancers. However, there are a few roadblocks in the way of this promising agent regarding its translation from the bench to the bedside. This review discusses the promise and prospects of resveratrol in the management of skin disorders and the associated challenges. PMID:21215251

  11. Deletion in the gene BruAb2_0168 of Brucella abortus strains: diagnostic challenges

    PubMed Central

    Dean, A S; Schelling, E; Bonfoh, B; Kulo, A E; Boukaya, G A; Pilo, P; Raoult, D

    2014-01-01

    Three Brucella abortus strains were isolated from joint hygromas from cows in northern Togo. Two deletions in the 5′ side of the gene BruAb2_0168 were identified. As this gene is used for species identification, these deletions have consequences for diagnostic procedures. Multiple locus variable number of tandem repeat (VNTR) analysis was therefore performed for species identification. The strains showed unique VNTR profiles, providing some of the first genotypic data from West Africa. More molecular and epidemiological data are needed from the region, in order to better understand transmission patterns and develop suitable diagnostic assays. PMID:24450581

  12. Psychiatric presentation of sporadic Creutzfeldt-Jakob disease: a challenge to current diagnostic criteria.

    PubMed

    Ali, Rehiana; Baborie, Atik; Larner, Andrew J; White, Richard

    2013-01-01

    Pathological diagnosis remains the gold standard for the diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD), but being able to differentiate between CJD and non-prion diseases clinically is important because many of the non-prion, rapidly progressive dementias are treatable. Diagnostic criteria need both high sensitivity and specificity while remaining applicable to clinical practice. Despite extensive updates to the clinical criteria for sCJD, there remains a heavy emphasis on neurological signs. We describe a psychiatric presentation of sCJD that did not fulfill the diagnostic criteria until very late in a prolonged disease course and required biopsy for diagnosis.

  13. Challenges in developing novel treatments for childhood disorders: lessons from research on anxiety.

    PubMed

    Pine, Daniel S; Helfinstein, Sarah M; Bar-Haim, Yair; Nelson, Eric; Fox, Nathan A

    2009-01-01

    Alterations in brain development may contribute to chronic mental disorders. Novel treatments targeted toward the early-childhood manifestations of such chronic disorders may provide unique therapeutic opportunities. However, attempts to develop and deliver novel treatments face many challenges. Work on pediatric anxiety disorders illustrates both the inherent challenges as well as the unusual opportunities for therapeutic advances. The present review summarizes three aspects of translational research on pediatric anxiety disorders as the work informs efforts to develop novel interventions. First, the review summarizes data on developmental conceptualizations of anxiety from both basic neuroscience and clinical perspectives. This summary is integrated with a discussion of the two best-established treatments, cognitive behavioral therapy and selective serotonin reuptake inhibitors. Second, the review summarizes work on attention bias to threat, considering implications for both novel treatments and translational research on neural circuitry functional development. This illustrates the manner in which clinical findings inform basic systems neuroscience research. Finally, the review summarizes work in basic science on fear learning, as studied in fear conditioning, consolidation, and extinction paradigms. This summary ends by describing potential novel treatments, illustrating the manner in which basic neuroscience informs therapeutics.

  14. Carers' experiences of being exposed to challenging behaviour in services for autism spectrum disorders.

    PubMed

    Butrimaviciute, Rasa; Grieve, Alan

    2014-11-01

    Previous studies have demonstrated that being exposed to challenging behaviour in services of care can have a negative impact on staff. Recently, challenging behaviour has been linked to people with autism spectrum disorders; however, little research has been aimed at exploring staff's experiences of facing such behaviour in services for autism spectrum disorders in particular. A qualitative study using interpretative phenomenological analysis was conducted. This method involves thorough exploration of experiences revealed by individuals. A purposive sample (N = 10) was used. Participants were involved in semi-structured interviews which were later analysed according to the guidelines by Smith and Osborn. Four themes were discovered: intense mental and physical engagement, importance of adaptive coping, ambiguous experience of failure and achievement and destructive emotional reactions. Being exposed to challenging behaviour in services for autism spectrum disorders is a complex multi-component experience. The present results allow some insight into personal worlds of staff and might be useful for improving their working environment as well as ensuring a higher quality of care for service users.

  15. Evidence for a single latent class of Diagnostic and Statistical Manual of Mental Disorders borderline personality pathology.

    PubMed

    Clifton, Allan; Pilkonis, Paul A

    2007-01-01

    Borderline personality disorder (BPD) has been described as clinically heterogeneous, with numerous subtypes of the disorder posited. The present study investigated this potential heterogeneity by conducting both confirmatory factor analysis and latent class analysis of consensus ratings of Diagnostic and Statistical Manual of Mental Disorders (DSM) Revised Third Edition BPD criteria in a mixed clinical and nonclinical sample (n = 411). Confirmatory factor analysis results suggested that a single factor fit the data most parsimoniously. Latent class analysis results supported 2 latent classes: those with a high likelihood of BPD symptoms (n = 171) and those with a low likelihood (n = 240). The borderline latent class was more inclusive than diagnoses made based on DSM-III-R thresholds and improved prediction of symptom severity and interpersonal dysfunction, suggesting the clinical importance of 3 or more BPD criteria. Future research on subtypes of BPD may benefit by focusing on variables that supplement the DSM criteria.

  16. Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an adult autism spectrum disorder diagnostic clinic.

    PubMed

    Wilson, C Ellie; Gillan, Nicola; Spain, Deborah; Robertson, Dene; Roberts, Gedeon; Murphy, Clodagh M; Maltezos, Stefanos; Zinkstok, Janneke; Johnston, Katie; Dardani, Christina; Ohlsen, Chris; Deeley, P Quinton; Craig, Michael; Mendez, Maria A; Happé, Francesca; Murphy, Declan G M

    2013-11-01

    An Autism Spectrum Disorder (ASD) diagnosis is often used to access services. We investigated whether ASD diagnostic outcome varied when DSM-5 was used compared to ICD-10R and DSM-IV-TR in a clinical sample of 150 intellectually able adults. Of those diagnosed with an ASD using ICD-10R, 56 % met DSM-5 ASD criteria. A further 19 % met DSM-5 (draft) criteria for Social Communication Disorder. Of those diagnosed with Autistic Disorder/Asperger Syndrome on DSM-IV-TR, 78 % met DSM-5 ASD criteria. Sensitivity of DSM-5 was significantly increased by reducing the number of criteria required for a DSM-5 diagnosis, or by rating 'uncertain' criteria as 'present', without sacrificing specificity. Reduced rates of ASD diagnosis may mean some ASD individuals will be unable to access clinical services.

  17. Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

    PubMed

    Chen, Zhao; Wang, Jun-Ling; Tang, Bei-Sha; Sun, Zhan-Fang; Shi, Yu-Ting; Shen, Lu; Lei, Li-Fang; Wei, Xiao-Ming; Xiao, Jing-Jing; Hu, Zheng-Mao; Pan, Qian; Xia, Kun; Zhang, Qing-Yan; Dai, Mei-Zhi; Liu, Yu; Ashizawa, Tetsuo; Jiang, Hong

    2013-10-01

    Next-generation sequencing was used to investigate 9 rare Chinese pedigrees with rare autosomal recessive neurologic Mendelian disorders. Five probands with ataxia-telangectasia and 1 proband with chorea-acanthocytosis were analyzed by targeted gene sequencing. Whole-exome sequencing was used to investigate 3 affected individuals with Joubert syndrome, nemaline myopathy, or spastic ataxia Charlevoix-Saguenay type. A list of known and novel candidate variants was identified for each causative gene. All variants were genetically verified by Sanger sequencing or quantitative polymerase chain reaction with the strategy of disease segregation in related pedigrees and healthy controls. The advantages of using next-generation sequencing to diagnose rare autosomal recessive neurologic Mendelian disorders characterized by genetic and phenotypic heterogeneity are demonstrated. A genetic diagnostic strategy combining the use of targeted gene sequencing and whole-exome sequencing with the aid of next-generation sequencing platforms has shown great promise for improving the diagnosis of neurologic Mendelian disorders. PMID:23726790

  18. The SCID-II and DIB-R interviews: diagnostic association with poor outcome risk factors in Borderline Personality Disorder.

    PubMed

    Andión, Óscar; Ferrer, Marc; Di Genova, Andrea; Calvo, Natalia; Gancedo, Beatriz; Matalí, Josep; Valero, Sergi; Torrubia, Rafael; Casas, Miguel

    2012-11-01

    This study assesses whether patients diagnosed with Borderline Personality Disorder (BPD) according to the Structured Clinical Interview for DSM-IV Axis II Disorders (SCID-II) or the Revised Diagnostic Interview for Borderlines (DIB-R) present differences in factors associated with risk of poor outcome. Three hundred fifty-two patients were evaluated with SCID-II and DIB-R. Patients diagnosed as BPD according to one or both instruments were compared in BPD poor outcome risk factors. The analysis was conducted on the participants who were assigned to SCID-II (n = 135) and SCID-II/DIB-R (n = 126) groups. The group diagnosed with BPD according the combined SCID-II/DIB-R interview showed a significantly greater association with risk of poor outcome predictors, such as total number of comorbid Axis II disorders, number of BPD criteria, presence of comorbid paranoid personality disorder, and worse occupational status. No differences between groups were found in the affective instability BPD criterion, self-reported impulsivity, post-traumatic stress disorder, major depressive disorder or presence of any cluster C comorbidity. The observed differences were large enough to advise caution in generalizing findings from studies without considering what measurement was used for the BPD diagnosis.

  19. Progression of Challenging Behaviors in Children and Adolescents with Autism Spectrum Disorders as Measured by the Autism Spectrum Disorders-Problem Behaviors for Children (ASD-PBC)

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Mahan, Sara; Hess, Julie A.; Fodstad, Jill C.; Neal, Daniene

    2010-01-01

    This study examined the effect of age on challenging behaviors among 167 children, ages 3-14 years, with Autistic Disorder, Pervasive Developmental Disorder Not Otherwise Specified, or Asperger's syndrome. Results of a MANOVA indicated that there were no significant differences between young children, children, and young adolescents on any of the…

  20. Neurobiology of generalized anxiety disorder.

    PubMed

    Stein, Murray B

    2009-01-01

    Generalized anxiety disorder (GAD) is a common illness with diagnostic criteria that have changed substantially over time. Symptoms of GAD overlap with those of major depressive disorder to such an extent that studying one disorder without studying the other may be impossible. Such an overlap, combined with potentially inappropriate diagnostic criteria for GAD, makes diagnosing and researching GAD challenging. Recent research into the genetics and neural circuitry of GAD may suggest solutions for the disorder's diagnostic controversies and point the way to productive future studies of etiology and pathophysiology.

  1. Treatment of bipolar disorders during pregnancy: maternal and fetal safety and challenges

    PubMed Central

    Epstein, Richard A; Moore, Katherine M; Bobo, William V

    2015-01-01

    Treating pregnant women with bipolar disorder is among the most challenging clinical endeavors. Patients and clinicians are faced with difficult choices at every turn, and no approach is without risk. Stopping effective pharmacotherapy during pregnancy exposes the patient and her baby to potential harms related to bipolar relapses and residual mood symptom-related dysfunction. Continuing effective pharmacotherapy during pregnancy may prevent these occurrences for many; however, some of the most effective pharmacotherapies (such as valproate) have been associated with the occurrence of congenital malformations or other adverse neonatal effects in offspring. Very little is known about the reproductive safety profile and clinical effectiveness of atypical antipsychotic drugs when used to treat bipolar disorder during pregnancy. In this paper, we provide a clinically focused review of the available information on potential maternal and fetal risks of untreated or undertreated maternal bipolar disorder during pregnancy, the effectiveness of interventions for bipolar disorder management during pregnancy, and potential obstetric, fetal, and neonatal risks associated with core foundational pharmacotherapies for bipolar disorder. PMID:25565896

  2. A trans-diagnostic review of anxiety disorder comorbidity and the impact of multiple exclusion criteria on studying clinical outcomes in anxiety disorders

    PubMed Central

    Goldstein-Piekarski, A N; Williams, L M; Humphreys, K

    2016-01-01

    Anxiety disorders are highly comorbid with each other and with other serious mental disorders. As our field progresses, we have the opportunity to pursue treatment study designs that consider these comorbidities. In this perspective review, we first characterized the prevalence of multiple anxiety disorder comorbidity by reanalyzing national survey data, then conducted an English-language PubMed search of studies analyzing the impact of exclusion criteria on treatment outcome data. In the prevalence data, 60% of people with an anxiety disorder had one or more additional anxiety or depression diagnosis. Because our commonly applied exclusion criteria focus on a single diagnosis and do not consider a multiple comorbidity profile, the impact of the criteria may be to exclude up to 92% of anxiety disorder treatment seekers. Moreover, the findings do not suggest a consistent relationship between the number of exclusion criteria and the effect size of treatment outcomes. Thus, future studies might consider a more trans-diagnostic rationale for determining exclusion criteria, one that is generalizable to real-world settings in which multiple diagnoses commonly co-occur. The findings also encourage a more systematic reporting of rationales for the choice of—and the implications of—each exclusion criterion. PMID:27351601

  3. Challenging situations when teaching children with autism spectrum disorders in general physical education.

    PubMed

    Obrusnikova, Iva; Dillon, Suzanna R

    2011-04-01

    As the first step of an instrument development, teaching challenges that occur when students with autism spectrum disorders are educated in general physical education were elicited using Goldfried and D'Zurilla's (1969) behavioral-analytic model. Data were collected from a convenience sample of 43 certified physical educators (29 women and 14 men) using a demographic questionnaire and an elicitation questionnaire. Participants listed 225 teaching challenges, 46% related to cooperative, 31% to competitive, and 24% to individualistic learning situations. Teaching challenges were categorized into nine themes: inattentive and hyperactive behaviors, social impairment, emotional regulation difficulties, difficulties understanding and performing tasks, narrow focus and inflexible adherence to routines and structure, isolation by classmates, negative effects on classmates' learning, and need for support.

  4. Post-traumatic stress disorder diagnosis in children: challenges and promises

    PubMed Central

    Cohen, Judith A.; Scheeringa, Michael S.

    2009-01-01

    Children and adolescents experience high rates of potentially traumatic experiences. Many children subsequently develop mental health problems, including post-traumatic stress disorder (PTSD) symptoms. Accurately diagnosing PTSD in children is challenging. This paper reviews the following important issues: (i) the specificity of the PTSD diagnosis; (ii) children who are symptomatic and impaired but do not have enough symptoms for the diagnosis of PTSD; (iii) developmental considerations for preschool and schooi-age children; and (iv) a variety of assessment challenges that reflect the difficulty and complexity of interviewing children and caregivers about these symptoms. Despite these challenges, PTSD remains the best construct for clinical and research work with trauma survivors. Pediatric PTSD criteria are valuable for identifying children at risk and in need of treatment and can be even more helpful when developmentally modified in ways that are discussed. PMID:19432391

  5. Higher education experiences of students with autism spectrum disorder: challenges, benefits and support needs.

    PubMed

    Van Hees, Valérie; Moyson, Tinneke; Roeyers, Herbert

    2015-06-01

    The transition into higher education constitutes a precarious life stage for students with autism spectrum disorder (ASD). Research on how students with ASD navigate college life is needed for the development of adequate support. This study investigated the challenges and support needs of 23 students with ASD in higher education through semi-structured interviews. Data were analyzed following the principles of Grounded Theory. Students faced difficulties with new situations and unexpected changes, social relationships, problems with information processing and time management and had doubts about disclosure. Facing these challenges simultaneously in the domains of education, student life and daily (independent) living, had a major impact on students' well being. Besides these challenges, students also reported benefits that contributed to success in the three domains. They pointed out to a set of recommendations for support. These findings are linked with previous research and implications for higher education institutions are extrapolated on the basis of these findings. PMID:25448918

  6. Characteristics of stereotypic movement disorder and self-injurious behavior assessed with the Diagnostic Assessment for the Severely Handicapped (DASH-II).

    PubMed

    Matson, J L; Hamilton, M; Duncan, D; Bamburg, J; Smiroldo, B; Anderson, S; Baglio, C

    1997-01-01

    The first experiment involved 143 individuals with severe and profound mental retardation. Individuals with Stereotypic Movement Disorder, Self-Injurious Behavior (SIB), and Stereotypic movement disorder with self-injurious behavior as assessed by the Diagnostic Assessment for the Severely Handicapped-II DASH-II were validated against Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV; American Psychiatric Association, 1994) criteria. In a second study DASH-II scores for 1480 individuals with severe and profound mental retardation were compared on demographic variables, core and associated features of each disorder. Characteristics of persons in each group were reviewed. Persons with profound mental retardation were more likely to evince stereotypies or self-injury compared to their severely impaired counterparts. Also, those with stereotypies were more likely to present with Pervasive Developmental Disorder (PDD)/autism, organicity, and eating disorders, while persons with SIB were more likely to evince sleep, sexual, and eating disorders.

  7. Lack of cortisol response in patients with posttraumatic stress disorder (PTSD) undergoing a diagnostic interview

    PubMed Central

    Kolassa, Iris-Tatjana; Eckart, Cindy; Ruf, Martina; Neuner, Frank; de Quervain, Dominique JF; Elbert, Thomas

    2007-01-01

    Background According to DSM-IV, the diagnosis of posttraumatic stress disorder (PTSD) requires the experience of a traumatic event during which the person's response involved intense fear, helplessness, or horror. In order to diagnose PTSD, clinicians must interview the person in depth about his/her previous experiences and determine whether the individual has been traumatized by a specific event or events. However, asking questions about traumatic experiences can be stressful for the traumatized individual and it has been cautioned that subsequent "re-traumatization" could occur. This study investigated the cortisol response in traumatized refugees with PTSD during a detailed and standardized interview about their personal war and torture experiences. Methods Participants were male refugees with severe PTSD who solicited an expert opinion in the Psychological Research Clinic for Refugees of the University of Konstanz. 17 patients were administered the Vivo Checklist of War, Detention, and Torture Events, a standardized interview about traumatic experiences, and 16 subjects were interviewed about absorption behavior. Self-reported measures of affect and arousal, as well as saliva cortisol were collected at four points. Before and after the experimental intervention, subjects performed a Delayed Matching-to-Sample (DMS) task for distraction. They also rated the severity of selected PTSD symptoms, as well as the level of intrusiveness of traumatic memories at that time. Results Cortisol excretion diminished in the course of the interview and showed the same pattern for both groups. No specific response was detectable after the supposed stressor. Correspondingly, ratings of subjective well-being, memories of the most traumatic event(s) and PTSD symptoms did not show any significant difference between groups. Those in the presumed stress condition did not perform worse than persons in the control condition after the stressor. However, both groups performed poorly in

  8. Tools for stools: the challenge of assessing human intestinal microbiota using molecular diagnostics.

    PubMed

    Brugère, Jean-François; Mihajlovski, Agnès; Missaoui, Mohieddine; Peyret, Pierre

    2009-05-01

    The human GI tract is inhabited by an incredibly complex and abundant microbiota, whose composition is dependent on a variety of factors. The gut microbiota has an influence in the morphological, immunological and nutritional functions of the digestive tract and may be involved in many diseases. This article proposes the rationale behind conducting in vitro diagnostics (IVDs) of the human microbiota, as well as outlining the conceptual and technical difficulties involved in IVD testing. The molecular methods that can be used according to whether the IVD tools are employed to study one individual constituent species or to determine the microbiota as a whole will also be described. In the latter case, these technologies include high-throughput sequencing for metagenomics and DNA microarrays, which can now be efficiently used to study gut ecology and are believed to represent the future of standardized diagnostics. PMID:19435456

  9. Tools for stools: the challenge of assessing human intestinal microbiota using molecular diagnostics.

    PubMed

    Brugère, Jean-François; Mihajlovski, Agnès; Missaoui, Mohieddine; Peyret, Pierre

    2009-05-01

    The human GI tract is inhabited by an incredibly complex and abundant microbiota, whose composition is dependent on a variety of factors. The gut microbiota has an influence in the morphological, immunological and nutritional functions of the digestive tract and may be involved in many diseases. This article proposes the rationale behind conducting in vitro diagnostics (IVDs) of the human microbiota, as well as outlining the conceptual and technical difficulties involved in IVD testing. The molecular methods that can be used according to whether the IVD tools are employed to study one individual constituent species or to determine the microbiota as a whole will also be described. In the latter case, these technologies include high-throughput sequencing for metagenomics and DNA microarrays, which can now be efficiently used to study gut ecology and are believed to represent the future of standardized diagnostics.

  10. Ciliated foregut cyst of the gallbladder. A diagnostic challenge and management quandary.

    PubMed

    Giakoustidis, Alexandros; Morrison, Dawn; Thillainayagam, Andrew; Stamp, Gordon; Mahadevan, Vishy; Mudan, Satvinder

    2014-06-01

    Ciliated foregut cysts are rare anomalies due to aberrant embryological development. Only a small number of gallbladder ciliated foregut cysts have been reported. We report the case of a 29-year-old woman presenting with epigastric pain associated with diarrhoea and vomiting, who was found to have raised serum bilirubin levels and abnormal liver function tests. Following a diagnostic pathway including abdominal ultrasound, magnetic resonance cholangiopancreatography and endoscopic ultrasound the gallbladder cyst was provisionally diagnosed to be a cyst arising from the cystic duct or a duplicated gallbladder. A laparoscopic cholecystectomy was carried out and histopathology identified a ciliated foregut gallbladder cyst. The postoperative course was uneventful. In this report we offer what we believe to be an optimal diagnostic pathway and therapeutic strategy for this rare congenital cyst.

  11. Myoepithelioma of minor salivary glands - A diagnostic challenge: Report of three cases with varied histomorphology.

    PubMed

    Gore, Charusheela R; Panicker, Nk; Chandanwale, Ss; Singh, Bikash K

    2013-05-01

    Myoepitheliomas are rare, benign neoplasms affecting predominantly parotid gland and to a lesser extent minor salivary glands. In this article we have reported three cases with different histomorphological patterns. Two cases are from oral cavity and one from sinonasal tract, a very rare location. We have discussed different histomorphological patterns of myoepitheliomas, which at times possesses a real diagnostic dilemma to a pathologist. Along with its morphology, immunohistochemical profile and clinical behavior are discussed in detail with relevant review of literature.

  12. Translation of proteomic biomarkers into FDA approved cancer diagnostics: issues and challenges.

    PubMed

    Füzéry, Anna K; Levin, Joshua; Chan, Maria M; Chan, Daniel W

    2013-01-01

    Tremendous efforts have been made over the past few decades to discover novel cancer biomarkers for use in clinical practice. However, a striking discrepancy exists between the effort directed toward biomarker discovery and the number of markers that make it into clinical practice. One of the confounding issues in translating a novel discovery into clinical practice is that quite often the scientists working on biomarker discovery have limited knowledge of the analytical, diagnostic, and regulatory requirements for a clinical assay. This review provides an introduction to such considerations with the aim of generating more extensive discussion for study design, assay performance, and regulatory approval in the process of translating new proteomic biomarkers from discovery into cancer diagnostics. We first describe the analytical requirements for a robust clinical biomarker assay, including concepts of precision, trueness, specificity and analytical interference, and carryover. We next introduce the clinical considerations of diagnostic accuracy, receiver operating characteristic analysis, positive and negative predictive values, and clinical utility. We finish the review by describing components of the FDA approval process for protein-based biomarkers, including classification of biomarker assays as medical devices, analytical and clinical performance requirements, and the approval process workflow. While we recognize that the road from biomarker discovery, validation, and regulatory approval to the translation into the clinical setting could be long and difficult, the reward for patients, clinicians and scientists could be rather significant. PMID:24088261

  13. Translation of proteomic biomarkers into FDA approved cancer diagnostics: issues and challenges

    PubMed Central

    2013-01-01

    Tremendous efforts have been made over the past few decades to discover novel cancer biomarkers for use in clinical practice. However, a striking discrepancy exists between the effort directed toward biomarker discovery and the number of markers that make it into clinical practice. One of the confounding issues in translating a novel discovery into clinical practice is that quite often the scientists working on biomarker discovery have limited knowledge of the analytical, diagnostic, and regulatory requirements for a clinical assay. This review provides an introduction to such considerations with the aim of generating more extensive discussion for study design, assay performance, and regulatory approval in the process of translating new proteomic biomarkers from discovery into cancer diagnostics. We first describe the analytical requirements for a robust clinical biomarker assay, including concepts of precision, trueness, specificity and analytical interference, and carryover. We next introduce the clinical considerations of diagnostic accuracy, receiver operating characteristic analysis, positive and negative predictive values, and clinical utility. We finish the review by describing components of the FDA approval process for protein-based biomarkers, including classification of biomarker assays as medical devices, analytical and clinical performance requirements, and the approval process workflow. While we recognize that the road from biomarker discovery, validation, and regulatory approval to the translation into the clinical setting could be long and difficult, the reward for patients, clinicians and scientists could be rather significant. PMID:24088261

  14. Diagnostic Challenges in Primary Hepatocellular Carcinoma: Case Reports and Review of the Literature

    PubMed Central

    Pazgan-Simon, Monika; Serafinska, Sylwia; Janocha-Litwin, Justyna; Simon, Krzysztof; Zuwala-Jagiello, Jolanta

    2015-01-01

    Hepatocellular carcinoma is the fifth most common malignancy and the third leading mortality cause worldwide. It typically develops secondarily to liver cirrhosis, due to hepatitis B or C infection, alcohol abuse, metabolic disease, and so forth. According to the American Association for the Study of Liver Diseases (AASLD) guidelines, which constitute diagnostic standards, the diagnosis of primary hepatocellular carcinoma (HCC) should be based on contrast-enhanced imaging. Lesion hyperenhancement should be observed throughout the arterial phase, followed by the washout during the venous phase. The diagnosis can also be based on the histopathological evaluation of liver biopsy specimen. Although the standards are clear, we often see patients with advanced HCC in clinical practice, who cannot be offered any effective treatment. Patients with chronic liver disease, presenting with inconclusive and changeable test results, constitute a separate problem. In such cases the diagnostic process is typically long-term and delayed. In this paper we present three case reports where the diagnosis could not be made promptly and the patients died as a result of a delayed diagnostic process. PMID:25922775

  15. Challenges for CTC-based liquid biopsies: low CTC frequency and diagnostic leukapheresis as a potential solution.

    PubMed

    Stoecklein, Nikolas H; Fischer, Johannes C; Niederacher, Dieter; Terstappen, Leon W M M

    2016-01-01

    Circulating tumor cells (CTCs) are very attractive surrogate markers for systemic cancer. Currently, major efforts are being made to use these rare cells in the sense of a liquid biopsy to gain molecular information for rational therapeutic decision-making. The advancements in molecular analyses of CTCs down to the single-cell level have been significant in recent years and some applications are ready to be used in clinical studies. As discussed in this review, a major challenge for translating such molecular CTC-based assays into the clinic is the extremely low frequency of CTCs and the associated problems of their reliable detection and isolation. A potential solution to overcome the low CTC frequency is the recently introduced diagnostic leukapheresis that permits screening of liters of blood. Discussed here are the challenges as well as the current efforts implementing this method into clinical workflows to realize more reliable liquid biopsies.

  16. Identifying prescription opioid use disorder in primary care: diagnostic characteristics of the Current Opioid Misuse Measure (COMM).

    PubMed

    Meltzer, Ellen C; Rybin, Denis; Saitz, Richard; Samet, Jeffrey H; Schwartz, Sonia L; Butler, Stephen F; Liebschutz, Jane M

    2011-02-01

    The Current Opioid Misuse Measure (COMM), a self-report assessment of past-month aberrant medication-related behaviors, has been validated in specialty pain management patients. The performance characteristics of the COMM were evaluated in primary care (PC) patients with chronic pain. It was hypothesized that the COMM could identify patients with prescription drug use disorder (PDD). English-speaking adults awaiting PC visits at an urban, safety-net hospital, who had chronic pain and had received any opioid analgesic prescription in the past year, were administered the COMM. The Composite International Diagnostic Interview served as the "gold standard," using DSM-IV criteria for PDD and other substance use disorders (SUDs). A receiver operating characteristic (ROC) curve demonstrated the COMM's diagnostic test characteristics. Of the 238 participants, 27 (11%) met DSM-IV PDD criteria, whereas 17 (7%) had other SUDs, and 194 (82%) had no disorder. The mean COMM score was higher in those with PDD than among all others (ie, those with other SUDs or no disorder, mean 20.4 [SD 10.8] vs 8.4 [SD 7.5], P<.0001). A COMM score of⩾13 had a sensitivity of 77% and a specificity of 77% for identifying patients with PDD. The area under the ROC curve was 0.84. For chronic pain patients prescribed opioids, the development of PDD is an undesirable complication. Among PC patients with chronic pain-prescribed prescription opioids, the COMM is a promising tool for identifying those with PDD. Among primary care patients with chronic pain-prescribed opioids, the validated Current Opioid Misuse Measure (COMM) is a promising tool for identifying patients with prescription opioid use disorder.

  17. Measurement and Analysis of Olfactory Responses with the Aim of Establishing an Objective Diagnostic Method for Central Olfactory Disorders

    NASA Astrophysics Data System (ADS)

    Uno, Tominori; Wang, Li-Qun; Miwakeichi, Fumikazu; Tonoike, Mitsuo; Kaneda, Teruo

    In order to establish a new diagnostic method for central olfactory disorders and to identify objective indicators, we measured and analyzed brain activities in the parahippocampal gyrus and uncus, region of responsibility for central olfactory disorders. The relationship between olfactory stimulation and brain response at region of responsibility can be examined in terms of fitted responses (FR). FR in these regions may be individual indicators of changes in brain olfactory responses. In the present study, in order to non-invasively and objectively measure olfactory responses, an odor oddball task was conducted on four healthy volunteers using functional magnetic resonance imaging (fMRI) and a odorant stimulator with blast-method. The results showed favorable FR and activation in the parahippocampal gyrus or uncus in all subjects. In some subjects, both the parahippocampal gyrus and uncus were activated. Furthermore, activation was also confirmed in the cingulate gyrus, middle frontal gyrus, precentral gyrus, postcentral gyrus, superior temporal gyrus and insula. The hippocampus and uncus are known to be involved in the olfactory disorders associated with early-stage Alzheimer's disease and other olfactory disorders. In the future, it will be necessary to further develop the present measurement and analysis method to clarify the relationship between central olfactory disorders and brain activities and establish objective indicators that are useful for diagnosis.

  18. Stem cells in neuroinjury and neurodegenerative disorders: challenges and future neurotherapeutic prospects.

    PubMed

    Mouhieddine, Tarek H; Kobeissy, Firas H; Itani, Muhieddine; Nokkari, Amaly; Wang, Kevin K W

    2014-05-01

    The prevalence of neurodegenerative diseases and neural injury disorders is increasing worldwide. Research is now focusing on improving current neurogenesis techniques including neural stem cell therapy and other biochemical drug-based approaches to ameliorate these disorders. Unfortunately, we are still facing many obstacles that are rendering current neurotherapies ineffective in clinical trials for reasons that are yet to be discovered. That is why we should start by fully understanding the complex mechanisms of neurogenesis and the factors that affect it, or else, all our suggested therapies would fail since they would not be targeting the essence of the neurological disorder but rather the symptoms. One possible paradigm shift is to switch from neuroprotectant therapies towards neurodegeneration/neurorestorative approaches. In addition, other and our laboratories are increasingly focusing on combining the use of pharmacological agents (such as Rho-associated kinase (ROCK) inhibitors or other growth factors (such as brain-derived neurotrophic factor (BDNF)) and stem cell treatment to enhance the survivability and/or differentiation capacity of transplanted stem cells in neurotrauma or other neurodegeneration animal models. Ongoing stem cell research is surely on the verge of a breakthrough of multiple effective therapeutic options for neurodegenerative disorders. Once, we fully comprehend the process of neurogenesis and its components, we will fully be capable of manipulating and utilizing it. In this work, we discuss the current knowledge of neuroregenerative therapies and their associated challenges.

  19. A challenge for theranostics: is the optimal particle for therapy also optimal for diagnostics?

    NASA Astrophysics Data System (ADS)

    Dreifuss, Tamar; Betzer, Oshra; Shilo, Malka; Popovtzer, Aron; Motiei, Menachem; Popovtzer, Rachela

    2015-09-01

    Theranostics is defined as the combination of therapeutic and diagnostic capabilities in the same agent. Nanotechnology is emerging as an efficient platform for theranostics, since nanoparticle-based contrast agents are powerful tools for enhancing in vivo imaging, while therapeutic nanoparticles may overcome several limitations of conventional drug delivery systems. Theranostic nanoparticles have drawn particular interest in cancer treatment, as they offer significant advantages over both common imaging contrast agents and chemotherapeutic drugs. However, the development of platforms for theranostic applications raises critical questions; is the optimal particle for therapy also the optimal particle for diagnostics? Are the specific characteristics needed to optimize diagnostic imaging parallel to those required for treatment applications? This issue is examined in the present study, by investigating the effect of the gold nanoparticle (GNP) size on tumor uptake and tumor imaging. A series of anti-epidermal growth factor receptor conjugated GNPs of different sizes (diameter range: 20-120 nm) was synthesized, and then their uptake by human squamous cell carcinoma head and neck cancer cells, in vitro and in vivo, as well as their tumor visualization capabilities were evaluated using CT. The results showed that the size of the nanoparticle plays an instrumental role in determining its potential activity in vivo. Interestingly, we found that although the highest tumor uptake was obtained with 20 nm C225-GNPs, the highest contrast enhancement in the tumor was obtained with 50 nm C225-GNPs, thus leading to the conclusion that the optimal particle size for drug delivery is not necessarily optimal for imaging. These findings stress the importance of the investigation and design of optimal nanoparticles for theranostic applications.Theranostics is defined as the combination of therapeutic and diagnostic capabilities in the same agent. Nanotechnology is emerging as an

  20. A distinct language and a historic pendulum: the evolution of the Diagnostic and Statistical Manual of Mental Disorders.

    PubMed

    Sanders, James L

    2011-12-01

    Historically, the Diagnostic and Statistical Manual of Mental Disorders (DSM) has met an important need in defining a common language of psychiatric diagnosis in North America. Understanding the development of the DSM can help researchers and practitioners better understand this diagnostic language. The history of the DSM, from its precursors to recent proposed revisions for its fifth edition, is reviewed and compared while avoiding the presentist bias. The development of DSM resembles a historic pendulum, from DSM-I emphasizing psychodynamics and causality to DSM-III and DSM-IV emphasizing empiricism and logical positivism. The proposed changes in etiological- and dimensional-based classification for DSM-V represent a slight backswing toward the center.

  1. A distinct language and a historic pendulum: the evolution of the Diagnostic and Statistical Manual of Mental Disorders.

    PubMed

    Sanders, James L

    2011-12-01

    Historically, the Diagnostic and Statistical Manual of Mental Disorders (DSM) has met an important need in defining a common language of psychiatric diagnosis in North America. Understanding the development of the DSM can help researchers and practitioners better understand this diagnostic language. The history of the DSM, from its precursors to recent proposed revisions for its fifth edition, is reviewed and compared while avoiding the presentist bias. The development of DSM resembles a historic pendulum, from DSM-I emphasizing psychodynamics and causality to DSM-III and DSM-IV emphasizing empiricism and logical positivism. The proposed changes in etiological- and dimensional-based classification for DSM-V represent a slight backswing toward the center. PMID:22114794

  2. Phenotypic overlap between core diagnostic features and emotional/behavioral problems in preschool children with autism spectrum disorder.

    PubMed

    Georgiades, Stelios; Szatmari, Peter; Duku, Eric; Zwaigenbaum, Lonnie; Bryson, Susan; Roberts, Wendy; Fombonne, Eric; Mirenda, Pat; Smith, Isabel; Vaillancourt, Tracy; Volden, Joanne; Waddell, Charlotte; Thompson, Ann

    2011-10-01

    This study examined the phenotypic overlap between core diagnostic features and emotional/behavioral problems in a sample of 335 preschool children with autism spectrum disorder (ASD). Results from principal component analysis (2 components; 49.70% variance explained) suggested substantial phenotypic overlap between core diagnostic features and emotional/behavioral problems. Component I, Emotional Behavioral Repetitive Problems, was independent of the children's intellectual, adaptive functioning, and structural language abilities. Component II, Social Communication Deficits, was negatively related to the children's intellectual, adaptive functioning, and structural language abilities. Both components were positively related to parental stress. This exploratory study contributes to our understanding of the ASD phenotype and provides further support for including emotional/behavioral problems as part of the clinical characterization of children with ASD.

  3. Cases from the aerospace medicine residents' teaching file. Case #42. An aviator with concentration deficit, Lyme disease organic diagnostic evaluation, and a somatoform disorder.

    PubMed

    Stephens, P J; Carpenter, F E

    1991-04-01

    An aviator with concentration deficit, Lyme disease organic diagnostic evaluation, and a somatoform disorder. The clinical presentation, evaluation and diagnosis of an aviator being evaluated for vague cognitive deficits of episodic and long duration with a history of rigid ideation concerning Lyme disease. The patient was diagnosed as having an atypical somatoform disorder. The aeromedical disposition of this patient is also presented.

  4. Evaluation of the Criterion and Convergent Validity of the Diagnostic Interview for Social and Communication Disorders in Young and Low-Functioning Children

    ERIC Educational Resources Information Center

    Maljaars, Jarymke; Noens, Ilse; Scholte, Evert; van Berckelaer-Onnes, Ina

    2012-01-01

    The Diagnostic Interview for Social and Communication Disorders (DISCO; Wing, 2006) is a standardized, semi-structured and interviewer-based schedule for diagnosis of autism spectrum disorder (ASD). The objective of this study was to evaluate the criterion and convergent validity of the DISCO-11 ICD-10 algorithm in young and low-functioning…

  5. Single-cell analysis of CTCs with diagnostic precision: opportunities and challenges for personalized medicine.

    PubMed

    Alberter, Barbara; Klein, Christoph A; Polzer, Bernhard

    2016-01-01

    The generation of variant cancer cells is the major cause of acquired resistance against systemic therapies and consequently, of our inability to cure advanced cancer patients. Circulating tumor cells are gaining increasing clinical attention because they may enable the monitoring cancer progression and adjustment of treatment. In recent years multiple technologies for enrichment, isolation as well as molecular and functional analysis of circulating tumor cells have been developed. Implementation of these technologies in standardized and automated workflows in clinical diagnostics could provide valuable information for real-time monitoring of cancer and eventually new therapeutic strategies for the benefit of patients. PMID:26567956

  6. Moderating Effects of Challenging Behaviors and Communication Deficits on Social Skills in Children Diagnosed with an Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Hess, Julie A.; Mahan, Sara

    2013-01-01

    One-hundred nine children 3-16 years of age diagnosed with Autistic Disorder, Pervasive Developmental Disorder Not Otherwise Specified, or Asperger's Syndrome were studied. Children resided in six states in the United States. Using moderation analysis via multiple regression, verbal communication and challenging behaviors and how they interact…

  7. Borderline Personality Disorder Diagnostic Criteria as Risk Factors for Suicidal Behavior Through the Lens of the Interpersonal Theory of Suicide.

    PubMed

    Rogers, Megan L; Joiner, Thomas E

    2016-01-01

    Borderline personality disorder diagnostic criteria, particularly affective dysregulation and behavioral dysregulation, are avenues through which suicide risk is conferred, though pathways are not well understood. The interpersonal theory of suicide may help elucidate these associations. The current study examined indirect relationships between affective and behavioral dysregulation and suicidal ideation through perceived burdensomeness, thwarted belongingness, and the acquired capability for suicide. 169 outpatients completed measures prior to their intake assessment. Perceived burdensomeness accounted for the relationship between affective dysregulation and suicidal ideation. The acquired capability did not explain the association between behavioral dysregulation and suicide attempt history. Affective and behavioral dysregulation may be key targets in treatment for reducing suicide risk.

  8. Teaching about Psychological Disorders: Using a Group Interviewing and Diagnostic Approach

    ERIC Educational Resources Information Center

    Tomcho, Thomas J.; Wolfe, Wendy L.; Foels, Rob

    2006-01-01

    We designed a cooperative learning classroom activity to enhance students' ability to understand psychological disorders and distinguish among anxiety, mood, and psychotic disorders. We employed a group interviewing approach with the instructor (or a graduate student) serving as the pseudo-client. Students interacted with a pseudo-client to arrive…

  9. Autism Spectrum Disorder in the DSM-5: Diagnostic Sensitivity and Specificity in Early Childhood

    ERIC Educational Resources Information Center

    Christiansz, Jessica A.; Gray, Kylie M.; Taffe, John; Tonge, Bruce J.

    2016-01-01

    Changes to the DSM-5 Autism Spectrum Disorder (ASD) criteria raised concerns among parents and practitioners that the criteria may exclude some children with Pervasive Developmental Disorder (PDD). Few studies have examined DSM-5 sensitivity and specificity in children less than 5 years of age. This study evaluated 185 children aged 20-55 months…

  10. Preschoolers' Observed Temperament and Psychiatric Disorders Assessed with a Parent Diagnostic Interview

    ERIC Educational Resources Information Center

    Dougherty, Lea R.; Bufferd, Sara J.; Carlson, Gabrielle A.; Dyson, Margaret; Olino, Thomas M.; Durbin, C. Emily; Klein, Daniel N.

    2011-01-01

    Evidence supports the role of temperament in the origins of psychiatric disorders. However, there are few data on associations between temperament and psychiatric disorders in early childhood. A community sample of 541 three-year-old preschoolers participated in a laboratory temperament assessment, and caregivers were administered a structured…

  11. Brief report: an exploratory study comparing diagnostic outcomes for autism spectrum disorders under DSM-IV-TR with the proposed DSM-5 revision.

    PubMed

    Gibbs, Vicki; Aldridge, Fiona; Chandler, Felicity; Witzlsperger, Ellen; Smith, Karen

    2012-08-01

    The proposed revision for Autism spectrum disorders (ASDs) in the Diagnostic and Statistical Manual of Mental Disorders--Fifth Edition (DSM-5) represents a shift from the Diagnostic and Statistical Manual of Mental Disorders--Fourth Edition, Text Revision (DSM-IV-TR). As the proposed DSM-5 criteria require a higher minimum number of symptoms to be present compared to DSM-IV-TR, there have been some concerns about the impact that this will have on diagnostic outcomes. Therefore, the current study aimed to compare diagnostic outcomes using both DSM-IV-TR and DSM-5 criteria for 132 children. Of the 111 participants who received an ASD diagnosis under DSM-IV-TR, 26 did not meet DSM-5 criteria. The majority of these had received a DSM-IV-TR PDD-NOS diagnosis. Implications of the results and the proposed DSM-5 changes to the ASD criteria are discussed.

  12. Opportunities and challenges in the discovery of allosteric modulators of GPCRs for treating CNS disorders

    PubMed Central

    Conn, P. Jeffrey; Lindsley, Craig W.; Meiler, Jens; Niswender, Colleen M.

    2014-01-01

    Novel allosteric modulators of G protein-coupled receptors (GPCRs) are providing fundamental advances in the development of GPCR ligands with high subtype selectivity and novel modes of efficacy that have not been possible with traditional approaches. As new allosteric modulators are advancing as drug candidates, we are developing an increased understanding of the major advantages and broad range of activities that can be achieved with these agents through selective modulation of specific signalling pathways, differential effects on GPCR homodimers versus heterodimers, and other properties. This understanding creates exciting opportunities, as well as unique challenges, in the optimization of novel therapeutic agents for disorders of the central nervous system. PMID:25176435

  13. Self-esteem and social anxiety in an adolescent female eating disorder population: age and diagnostic effects.

    PubMed

    Obeid, Nicole; Buchholz, Annick; Boerner, Katelynn E; Henderson, Katherine A; Norris, Mark

    2013-01-01

    This study explored symptoms of social anxiety and multidimensional self-esteem in a clinical, adolescent female eating disorder population. Using self-report measures, data from 344 females revealed significant negative relationships between dimensions of self-esteem and social anxiety. A diagnostic difference emerged, with the restricting subgroup reporting significantly higher perceived physical appearance and global self-worth than those with binge/purge symptoms or bulimia nervosa. No significant age differences or age by diagnosis interaction effects emerged. These findings suggest that in clinical samples of adolescent eating disorders, self-esteem and social anxiety share a significant inverse relationship and seem to remain fairly constant across adolescence. PMID:23421697

  14. Disordered gambling as defined by the Diagnostic and Statistical Manual of Mental Disorders and the South Oaks Gambling Screen: evidence for a common etiologic structure.

    PubMed

    Slutske, Wendy S; Zhu, Gu; Meier, Madeline H; Martin, Nicholas G

    2011-08-01

    In a previous article, we demonstrated in a large twin study that disordered gambling (DG), as defined by the Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV), ran in families, that about half of the variation in liability for DG was due to familial factors, and that all of this was explained by shared genetic rather than shared environmental influences (Slutske, Zhu, Meier, & Martin, 2010). The purpose of the present study is to extend this work to include an alternative conceptualization of DG that is provided by the South Oaks Gambling Screen (SOGS) item set in order to (a) compare the magnitude of the familial resemblance obtained when using the two definitions of DG (based on the DSM-IV and the SOGS), (b) examine the extent to which the 2 definitions tap the same underlying sources of genetic and environmental variation, and (c) examine whether the same results will be obtained among men and women. The results of bivariate twin model-fitting analyses suggested that DG, as defined by the DSM-IV and the SOGS, substantially overlapped at the etiologic level among both men and women, which supports the construct validity of both the DSM and the SOGS conceptualizations of DG. This study highlights the utility of twin studies for appraising the validity of the diagnostic nomenclature.

  15. Opportunities and challenges in modeling human brain disorders in transgenic primates.

    PubMed

    Jennings, Charles G; Landman, Rogier; Zhou, Yang; Sharma, Jitendra; Hyman, Julia; Movshon, J Anthony; Qiu, Zilong; Roberts, Angela C; Roe, Anna Wang; Wang, Xiaoqin; Zhou, Huihui; Wang, Liping; Zhang, Feng; Desimone, Robert; Feng, Guoping

    2016-08-26

    Molecular genetic tools have had a profound impact on neuroscience, but until recently their application has largely been confined to a few model species, most notably mouse, zebrafish, Drosophila melanogaster and Caenorhabditis elegans. With the development of new genome engineering technologies such as CRISPR, it is becoming increasingly feasible to apply these molecular tools in a wider range of species, including nonhuman primates. This will lead to many opportunities for brain research, but it will also pose challenges. Here we identify some of these opportunities and challenges in light of recent and foreseeable technological advances and offer some suggestions. Our main focus is on the creation of new primate disease models for understanding the pathological mechanisms of brain disorders and for developing new approaches to effective treatment. However, we also emphasize that primate genetic models have great potential to address many fundamental questions about brain function, providing an essential foundation for future progress in disease research. PMID:27571191

  16. Opportunities and challenges in modeling human brain disorders in transgenic primates.

    PubMed

    Jennings, Charles G; Landman, Rogier; Zhou, Yang; Sharma, Jitendra; Hyman, Julia; Movshon, J Anthony; Qiu, Zilong; Roberts, Angela C; Roe, Anna Wang; Wang, Xiaoqin; Zhou, Huihui; Wang, Liping; Zhang, Feng; Desimone, Robert; Feng, Guoping

    2016-08-26

    Molecular genetic tools have had a profound impact on neuroscience, but until recently their application has largely been confined to a few model species, most notably mouse, zebrafish, Drosophila melanogaster and Caenorhabditis elegans. With the development of new genome engineering technologies such as CRISPR, it is becoming increasingly feasible to apply these molecular tools in a wider range of species, including nonhuman primates. This will lead to many opportunities for brain research, but it will also pose challenges. Here we identify some of these opportunities and challenges in light of recent and foreseeable technological advances and offer some suggestions. Our main focus is on the creation of new primate disease models for understanding the pathological mechanisms of brain disorders and for developing new approaches to effective treatment. However, we also emphasize that primate genetic models have great potential to address many fundamental questions about brain function, providing an essential foundation for future progress in disease research.

  17. Prevalence and diagnostic challenge of dystonia in Thailand: a service-based study in a tertiary university referral centre.

    PubMed

    Bhidayasiri, Roongroj; Kaewwilai, Lalita; Wannachai, Natnipa; Brenden, Neil; Truong, Daniel D; Devahastin, Ratanaruedee

    2011-11-01

    Although the subspeciality of movement disorders was established in neurology more than 20 years ago, it is relatively new in Thailand, and while most physicians are generally aware of Parkinson's disease, they often are not familiar with dystonia. As one of the common movement disorders seen in general practice, a number of family and population studies have suggested that as many as two-thirds of patients with dystonia may be underdiagnosed and it is likely that misdiagnosis occurs frequently. Moreover, there is little information on the prevalence of dystonia in Thailand. The purpose of this study was to determine the prevalence and clinical profile of dystonia among Thai patients who came from the southern part of Bangkok, which is in the catchment area of Chulalongkorn University Hospital. In addition, the diagnostic accuracy of dystonia among referred patients was assessed. The medical records of 207 patients were reviewed and it was determined that a large proportion of them (71.9%) had focal dystonia with cervical dystonia being the most common form. Primary dystonia (68.1%) accounted for the majority of the cases. The prevalence of all forms of dystonia, primary dystonia and focal dystonia was 19.9, 13.6 and 14.3 per 100,000 persons, respectively. The diagnostic accuracy of dystonia among referred patients was 85.5%. The most common misdiagnosis was cervical spondylosis, followed by myofascial pain syndrome. Most patients had an average disease duration of 4 years before dystonia was finally diagnosed. Most patients with focal dystonia responded well to botulinum toxin therapy, with 13.3% suffering only mild transient adverse events. In spite of the limitations of this study, this data will initiate a process of increasing both patient and professional awareness of dystonia in Thailand.

  18. Computer-aided diagnosis of diagnostically challenging lesions in breast MRI: a comparison between a radiomics and a feature-selective approach

    NASA Astrophysics Data System (ADS)

    Hoffmann, Sebastian; Lobbes, Marc; Houben, Ivo; Pinker-Domenig, Katja; Wengert, Georg; Burgeth, Bernhard; Meyer-Bäse, Uwe; Lemaitre, Guillaume; Meyer-Baese, Anke

    2016-05-01

    Diagnostically challenging lesions pose a challenge both for the radiological reading and also for current CAD systems. They are not well-defined in both morphology (geometric shape) and kinetics (temporal enhancement) and pose a problem to lesion detection and classification. Their strong phenotypic differences can be visualized by MRI. Radiomics represents a novel approach to achieve a detailed quantification of the tumour phenotypes by analyzing a large number of image descriptors. In this paper, we apply a quantitative radiomics approach based on shape, texture and kinetics tumor features and evaluate it in comparison to a reduced-order feature approach in a computer-aided diagnosis system applied to diagnostically challenging lesions.

  19. Validity of the copper/zinc ratio as a diagnostic marker for taste disorders associated with zinc deficiency.

    PubMed

    Yanagisawa, Hiroyuki; Kawashima, Toru; Miyazawa, Mai; Ohshiro, Tadahiro

    2016-07-01

    Although zinc (Zn) deficiency is often suspected in patients with taste disorders, it may be difficult to diagnose Zn deficiency, especially in patients without any clear risk factors. Accordingly, the aim of the present study was to detect possible markers for taste disorders or zinc deficiency. To achieve this aim, we analyzed data obtained from 122 Japanese men who were not using medicines and had no diseases requiring treatment. We evaluated the following factors: awareness of dysgeusia; salty taste recognition threshold (SRT); the serum concentrations of Zn, copper (Cu), iron, alkaline phosphatase, and albumin; and the Cu/Zn ratio. The serum Cu/Zn ratio was positively correlated with the both the SRT and the awareness of dysgeusia. The serum Zn concentration was not correlated with the SRT or the awareness of dysgeusia in univariate analyses. However, in multivariate logistic regression, the serum Zn concentration was associated with the awareness of dysgeusia. In conclusion, the serum Cu/Zn ratio is a good diagnostic marker for taste disorders and the value of 1.1 may be a threshold level for detecting taste disorders. PMID:27259356

  20. Non-suicidal self-injury with and without borderline personality disorder: differences in self-injury and diagnostic comorbidity.

    PubMed

    Turner, Brianna J; Dixon-Gordon, Katherine L; Austin, Sara B; Rodriguez, Marcus A; Zachary Rosenthal, M; Chapman, Alexander L

    2015-11-30

    Although non-suicidal self-injury (NSSI) occurs in people with and without borderline personality disorder (BPD), few studies have compared the clinical characteristics of these two groups. The present study sampled adults with a history of NSSI and compared those with and without BPD on (a) NSSI features, (b) co-occurring psychiatric disorders, and (c) severity of depression, suicidal ideation and emotion dysregulation. Participants (NSSI+BPD, n=46; NSSI Only, n=54) completed semi-structured interviews and self-report measures. Whereas the groups did not differ in age of NSSI onset, the NSSI+BPD group engaged in more frequent, recent and severe NSSI, and reported higher rates of skin carving, head banging, self-punching and self-scratching than the NSSI Only group. Participants with BPD also showed greater diagnostic comorbidity, particularly for anxiety disorders, but did not differ from participants without BPD in rates of mood, substance or psychotic disorders. The NSSI+BPD group reported more severe depressive symptomatology, suicidal ideation and emotion dysregulation than the NSSI Only group. Supplementary analyses on the subset of participants with recent (past year) NSSI revealed similarly medium to large differences between those with and without BPD. Implications for assessment and treatment are discussed.

  1. Media hype, diagnostic fad or genuine disorder? Professionals' opinions about night eating syndrome, orthorexia, muscle dysmorphia, and emetophobia.

    PubMed

    Vandereycken, Walter

    2011-01-01

    Many "new" syndromes have been proposed for inclusion in the DSM-V. Some disorders acquired popularity through the Internet, but will they be taken seriously and get accepted by the scientific community? We organized an opinion poll among professionals in the field of eating disorders by presenting them a provisional set of diagnostic criteria of four "new" disorders: Night Eating Syndrome, Orthorexia, Muscle Dysmorphia, and Emetophobia. In general, the opinions did not differ much according to the characteristics of the 111 respondents. Among these professionals, Orthorexia is the best known and Night Eating Syndrome the least. Although the majority is familiar with the concept of Muscle Dysmorphia, it is most often viewed as a creation of the popular media and rarely observed in daily practice. In contrast, the other three disorders seem to be taken more seriously in the sense of "genuine" syndromes, which should receive more attention in research and clinical practice. Emetophobia appears to be the least "fashionable" of the four. The findings are discussed in the light of medialization and medicalization.

  2. Media hype, diagnostic fad or genuine disorder? Professionals' opinions about night eating syndrome, orthorexia, muscle dysmorphia, and emetophobia.

    PubMed

    Vandereycken, Walter

    2011-01-01

    Many "new" syndromes have been proposed for inclusion in the DSM-V. Some disorders acquired popularity through the Internet, but will they be taken seriously and get accepted by the scientific community? We organized an opinion poll among professionals in the field of eating disorders by presenting them a provisional set of diagnostic criteria of four "new" disorders: Night Eating Syndrome, Orthorexia, Muscle Dysmorphia, and Emetophobia. In general, the opinions did not differ much according to the characteristics of the 111 respondents. Among these professionals, Orthorexia is the best known and Night Eating Syndrome the least. Although the majority is familiar with the concept of Muscle Dysmorphia, it is most often viewed as a creation of the popular media and rarely observed in daily practice. In contrast, the other three disorders seem to be taken more seriously in the sense of "genuine" syndromes, which should receive more attention in research and clinical practice. Emetophobia appears to be the least "fashionable" of the four. The findings are discussed in the light of medialization and medicalization. PMID:21360365

  3. Spindle Cell Variant of Embryonal Rhabdomyosarcoma: A Rare Entity with Diagnostic Challenges

    PubMed Central

    Kaur, Anureet; Suri, Anil Kumar; Malik, Harsh

    2016-01-01

    The spindle cell variant of embryonal rhabdomyosarcoma is a rare and a better differentiated variant of embryonal rhabdomyosarcoma, having a better prognosis compared to other types of rhabdomyosarcomas. So, it needs to be distinguished from classical forms of the neoplasm. Its morphological resemblance to spindle cell neoplasms like leiomyosarcomas and fibrosarcomas may pose diagnostic difficulties for the pathologist. This problem can be overcome by careful search for rhabdomyoblasts in sections, which are usually few, and Immunohistochemistry for myogenin. In the present case, a 15-year-old female presented with a progressively increasing swelling in the right upper eyelid, which was diagnosed as a rare variant of rhabdomyosarcoma. We have also attempted to discuss its differential diagnosis, and to emphasize the fact that this rare entity may be misdiagnosed. PMID:27656457

  4. Solitary tubercular caecal ulcer causing massive lower gastrointestinal bleed: a formidable diagnostic challenge.

    PubMed

    Ram, Duvuru; Karthikeyan, Vilvapathy Senguttuvan; Sistla, Sarath Chandra; Ali, Sheik Manwar

    2014-03-06

    Gastrointestinal (GI) haemorrhage is a common surgical emergency accounting for approximately 1% of acute hospital admissions. Lower GI bleed is less common and less severe than upper GI bleed and is usually caused by diverticulosis, neoplasms, angiodysplasia and inflammatory bowel disease. A 51-year-old man presented with massive lower GI bleed. He had no history of tuberculosis. He underwent colonoscopy and an isolated caecal ulcer was noted. Segmental ileocaecal resection was performed and no specific cause was identifiable on histopathology. PCR was performed on this specimen and it was positive for Mycobacterium tuberculosis. This case reports the unusual presentation of tuberculosis as solitary caecal ulcer with massive lower GI bleed and highlights the role of PCR as an adjuvant diagnostic tool for its diagnosis when characteristic histopathological findings are absent.

  5. Diagnostic challenges of tuberculous lymphadenitis using polymerase chain reaction analysis: a case study.

    PubMed

    Taniguchi, Hirokazu; Nakamura, Masahiko; Shimokawa, Kazuki; Kamiseki, Fumi; Ishizawa, Shin; Abo, Hitoshi; Furuse, Hideaki; Tsuda, Takeshi; Masaki, Yasuaki; Suzuki, Kensuke

    2015-01-01

    This report presents a case of tuberculous lymphadenitis that was difficult to diagnose using polymerase chain reaction analysis. An 80-year-old Japanese female was hospitalized due to swollen cervical lymph nodes. Her lymph node tests revealed paradoxical polymerase chain reaction results. Polymerase chain reaction analysis of two biopsy tissues using the Cobas TaqMan revealed a positive result for Mycobacterium avium and a negative result for Mycobacterium tuberculosis. However, polymerase chain reaction analysis of a cultured colony of acid-fast bacteria from biopsy tissue using the Cobas TaqMan and an alternative polymerase chain reaction analysis of biopsy tissue yielded discordant results. The patient was diagnosed as having tuberculous lymphadenitis. She was treated with antitubercular drugs and subsequently had a reduction in cervical lymph node swelling. Polymerase chain reaction analysis is not 100% accurate; hence, its use as a diagnostic tool for mycobacterial infection requires increased attention.

  6. Pancreatic cystic neoplasms: Review of current knowledge, diagnostic challenges, and management options

    PubMed Central

    Jana, Tanima; Shroff, Jennifer; Bhutani, Manoop S.

    2015-01-01

    Pancreatic cystic lesions are being detected with increasing frequency, largely due to advances in cross-sectional imaging. The most common neoplasms include serous cystadenomas, mucinous cystic neoplasms, intraductal papillary mucinous neoplasms, solid pseudopapillary neoplasms, and cystic pancreatic endocrine neoplasms. Computed tomography (CT), magnetic resonance imaging (MRI), and endoscopic ultrasound (EUS) are currently used as imaging modalities. EUS-guided fine needle aspiration has proved to be a useful diagnostic tool, and enables an assessment of tumor markers, cytology, chemistries, and DNA analysis. Here, we review the current literature on pancreatic cystic neoplasms, including classification, diagnosis, treatment, and recommendations for surveillance. Data for this manuscript was acquired via searching the literature from inception to December 2014 on PubMed and Ovid MEDLINE. PMID:25821410

  7. Spindle Cell Variant of Embryonal Rhabdomyosarcoma: A Rare Entity with Diagnostic Challenges.

    PubMed

    Kaur, Puneet; Kaur, Anureet; Suri, Anil Kumar; Malik, Harsh

    2016-08-01

    The spindle cell variant of embryonal rhabdomyosarcoma is a rare and a better differentiated variant of embryonal rhabdomyosarcoma, having a better prognosis compared to other types of rhabdomyosarcomas. So, it needs to be distinguished from classical forms of the neoplasm. Its morphological resemblance to spindle cell neoplasms like leiomyosarcomas and fibrosarcomas may pose diagnostic difficulties for the pathologist. This problem can be overcome by careful search for rhabdomyoblasts in sections, which are usually few, and Immunohistochemistry for myogenin. In the present case, a 15-year-old female presented with a progressively increasing swelling in the right upper eyelid, which was diagnosed as a rare variant of rhabdomyosarcoma. We have also attempted to discuss its differential diagnosis, and to emphasize the fact that this rare entity may be misdiagnosed. PMID:27656457

  8. Diagnostic challenges of sexually transmitted infections in resource-limited settings.

    PubMed

    Peeling, Rosanna W; Ronald, Allan

    2009-12-01

    The global burden of sexually transmitted infections (STIs) is highest in the developing world where access to laboratory services is limited. Sophisticated laboratory diagnostic tests using noninvasive specimens have enabled developed countries to screen and diagnose curable STIs in a variety of settings, but control programs in resource-limited settings continue to struggle to find simple rapid tests that can provide adequate performance in the absence of laboratory services. While recent technological advances and investments in research and development may soon yield improved STI tests that can make an impact, these tests will need to be deployed within a health system that includes: regulatory oversight, quality assurance, good supply-chain management, effective training, information systems and a sound surveillance system to monitor disease trends, inform policy decisions and assess the impact of interventions. PMID:19995188

  9. Spectroscopic Challenges in the Modelling and Diagnostics of High Temperature Air Plasma Radiation for Aerospace Applications

    SciTech Connect

    Laux, Christophe O.

    2007-04-06

    State-of-the-art spectroscopic models of the radiative transitions of interest for Earth re-entry and ground-based diagnostic facilities for aerospace applications are reviewed. The spectral range considered extends from the vacuum ultraviolet to the mid-infrared range (80 nm to 5.5 {mu}m). The modeling results are compared with absolute intensity measurements of the ultraviolet-visible-infrared emission of a well-characterized high-temperature air plasma produced with a 50 kW inductively coupled radio-frequency plasma torch, and with high-resolution absorption spectra from the Center for Astrophysics in the vacuum ultraviolet. The Spectroscopic data required to better model the spectral features of interest for aerospace applications are discussed.

  10. Adenosquamous carcinoma of the larynx associated with necrotizing sialometaplasia--a diagnostic challenge.

    PubMed

    Ravn, Tomaas; Trolle, Waldemar; Kiss, Katalin; Balle, Viggo Hulthin

    2009-12-01

    Necrotizing sialometaplasia is a benign, self-limiting, inflammatory process involving salivary glands, commonly associated with tissue ischemia. Clinically, necrotizing sialometaplasia is most often found in the hard palate as a deep ulcer with raised, indurated edges that can be indolent. This, as well as the histopathologic findings of necrotizing sialometaplasia, can be confused with those of a malignant neoplasm. We report a rare case of necrotizing sialometaplasia in the larynx, probably initiated by an underlying malignant process. We suggest an aggressive diagnostic approach, when necrotizing sialometaplasia involves the larynx and no recent exposure to radiation, surgery or trauma has been recorded. Necrotizing sialometaplasia of the larynx should be regarded as secondary to malignancy until proven otherwise.

  11. [Mild head injury in children and adults. Diagnostic challenges in the emergency department].

    PubMed

    Leidel, B A; Lindner, T; Wolf, S; Bogner, V; Steinbeck, A; Börner, N; Peiser, C; Audebert, H J; Biberthaler, P; Kanz, K-G

    2015-01-01

    Mild head injuries are one of the most frequent reasons for attending emergency departments and are particularly challenging in different ways. While clinically important injuries are infrequent, delayed or missed injuries may lead to fatal consequences. The initial mostly inconspicuous appearance may not reflect the degree of intracranial injury and computed tomography (CT) is necessary to rule out covert injuries. Furthermore, infants and young children with a lack of or rudimentary cognitive and language development are challenging, especially for those examiners not familiar with pediatric care. Established check lists of clinical risk factors for children and adults regarding traumatic brain injuries allow specific and rational decision-making for cranial CT imaging. Clinically important intracranial injuries can be reliably detected and unnecessary radiation exposure avoided at the same time. PMID:25630884

  12. Sensory-processing sensitivity in social anxiety disorder: relationship to harm avoidance and diagnostic subtypes.

    PubMed

    Hofmann, Stefan G; Bitran, Stella

    2007-01-01

    Sensory-processing sensitivity is assumed to be a heritable vulnerability factor for shyness. The present study is the first to examine sensory-processing sensitivity among individuals with social anxiety disorder. The results showed that the construct is separate from social anxiety, but it is highly correlated with harm avoidance and agoraphobic avoidance. Individuals with a generalized subtype of social anxiety disorder reported higher levels of sensory-processing sensitivity than individuals with a non-generalized subtype. These preliminary findings suggest that sensory-processing sensitivity is uniquely associated with the generalized subtype of social anxiety disorder. Recommendations for future research are discussed.

  13. Challenges in the diagnosis and treatment of depression in autism spectrum disorders across the lifespan

    PubMed Central

    Chandrasekhar, Tara; Sikich, Linmarie

    2015-01-01

    Diagnosis and treatment of comorbid neuropsychiatric illness is often a secondary focus of treatment in individuals with autism spectrum disorder (ASD), given that substantial impairment may be caused by core symptoms of ASD itself. However, psychiatric comorbidities, including depressive disorders, are common and frequently result in additional functional impairment, treatment costs, and burden on caregivers. Clinicians may struggle to appropriately diagnose depression in ASD due to communication deficits, atypical presentation of depression in ASD, and lack of standardized diagnostic tools. Specific risk and resilience factors for depression in ASD across the lifespan, including level of functioning, age, family history, and coping style, have been suggested, but require further study. Treatment with medications or psychotherapy may be beneficial, though more research is required to establish guidelines for management of symptoms. This review will describe typical presentations of depression in individuals with ASD, review current information on the prevalence, assessment, and treatment of comorbid depression in individuals with ASD, and identify important research gaps. PMID:26246795

  14. Concordance between a simpler definition of major depressive disorder and Diagnostic and statistical manual of mental disorders, fourth edition: an independent replication in an outpatient sample.

    PubMed

    Zimmerman, Mark; Emmert-Aronson, Benjamin O; Brown, Timothy A

    2011-01-01

    The diagnostic and statistical manual of mental disorders, fourth edition (DSM-IV) symptom criteria for major depressive disorder (MDD) are somewhat lengthy with several studies showing that clinicians have difficulty recalling all 9 symptoms. Moreover, the criteria include somatic symptoms that are difficult to apply in patients with medical illnesses. To address these problems, a simpler definition of MDD was developed that did not include the somatic symptoms. Previous reports found high levels of agreement between the simplified and full DSM-IV definition of MDD. However, the same research group has conducted all previous studies of psychiatric patients. The goal of the present study was to determine if a high level of concordance between the 2 definitions would be replicated in an independent setting. We interviewed 2907 psychiatric outpatients presenting for treatment at the Boston University Center for Anxiety and Related Disorders. A trained diagnostic rater administered a semistructured interview and inquired about all symptoms of depression for all patients. A high level of agreement was found between the DSM-IV and the simpler definition of MDD. The absolute level of agreement between the 2 definitions was 95.5% and the κ coefficient was 0.88. Thus, consistent with previous studies, a high level of concordance was found between a simpler definition of MDD and the DSM-IV definition. This new definition offers 2 advantages over the current DSM-IV definition-it is briefer, and it is easier to apply with medically ill patients because it is free of somatic symptoms. Implications of these findings for DSM-5 are discussed.

  15. Multiple chronic disorders - health care system’s modern challenge in the Maccabi Health Care System

    PubMed Central

    2014-01-01

    Background One of the major challenges health care systems face in modern time is treating chronic disorders. In recent years, the increasing occurrence of multiple chronic disorders (MCC) in single individuals has compounded the complexity of health care. In 2008, it was estimated that worldwide as many as one quarter of the population between the ages of sixty five to sixty nine suffered from two or more chronic conditions and this prevalence rose with age. Clinical guidelines provide guidance for management of single disorders, but not for MCC. The aim of the present study was the study of the prevalence, distribution and impact of MCC in a large Israeli health system. Methods We performed a cross-sectional study of MCC in the Maccabi Healthcare System (MHS), Israel’s second largest healthcare service, providing care for approximately two million people. Data regarding chronic conditions was collected through electronic medical records and organizational records, as was demographic and socioeconomic data. Age and sex specific data were compared with previously published data from Scotland. Results Two thirds of the population had two or more chronic disorders. This is significantly higher than previously published rates. A correlation between patient age and number of chronic disorders was found, as was a correlation between number of chronic disorders and low socioeconomic status, with the exception of children due to a high prevalence of learning disabilities, asthma, and visual disturbances. Discussion MCC is very prevalent in the MHS population, increases with age, and except for children is more prevalent in lower socioeconomic classes, possibly due to the a combination of the structure of the Israeli universal insurance and requirements of the ministry of education for exemptions and benefits. A higher than previously reported prevalence of MCC may be due to the longtime use of use of integrated electronic medical records. Conclusions To effectively deal

  16. Influence of Weight on Shared Core Symptoms in Eating Disorders: Support or Challenge for a Transdiagnostic Perspective?

    PubMed

    Schmitz, Catalina; Schnicker, Katja; Legenbauer, Tanja

    2016-09-01

    In terms of the transdiagnostic model of eating disorders, Anorexia Nervosa (AN), Bulimia Nervosa (BN), and Binge Eating Disorder (BED) share the same distinctive psychopathology. However, empirical evidence showing similarities between these eating disorder diagnoses for core symptoms is scarce, and the role of weight status is unclear. Data from a total of 168 female participants were collected between April 2004 and April 2008, at an outpatient unit specialized in eating disorder treatment. Core symptoms of eating disorders were measured via self-report questionnaires. In particular, women with BED and BN showed similar patterns of core symptomatology compared with AN. However, when body mass index (BMI) was considered in the analyses, there were no differences between the three diagnostic groups in relation to body image. Differences in eating behavior are not solely triggered by weight differences, whereas body image disturbances are a transdiagnostic phenomenon among EDs and should also be considered in the treatment of BED. PMID:27118052

  17. Influence of Weight on Shared Core Symptoms in Eating Disorders: Support or Challenge for a Transdiagnostic Perspective?

    PubMed

    Schmitz, Catalina; Schnicker, Katja; Legenbauer, Tanja

    2016-09-01

    In terms of the transdiagnostic model of eating disorders, Anorexia Nervosa (AN), Bulimia Nervosa (BN), and Binge Eating Disorder (BED) share the same distinctive psychopathology. However, empirical evidence showing similarities between these eating disorder diagnoses for core symptoms is scarce, and the role of weight status is unclear. Data from a total of 168 female participants were collected between April 2004 and April 2008, at an outpatient unit specialized in eating disorder treatment. Core symptoms of eating disorders were measured via self-report questionnaires. In particular, women with BED and BN showed similar patterns of core symptomatology compared with AN. However, when body mass index (BMI) was considered in the analyses, there were no differences between the three diagnostic groups in relation to body image. Differences in eating behavior are not solely triggered by weight differences, whereas body image disturbances are a transdiagnostic phenomenon among EDs and should also be considered in the treatment of BED.

  18. Coagulation disorders and their cutaneous presentations: Diagnostic work-up and treatment.

    PubMed

    Dabiri, Ganary; Damstetter, Elizabeth; Chang, Yunyoung; Baiyee Ebot, Emily; Powers, Jennifer Gloeckner; Phillips, Tania

    2016-05-01

    Both inherited and acquired hypercoagulable states can present with nonspecific clinical manifestations, such as petechiae, purpura, livedo reticularis, and ulcerations. A good history and physical examination are crucial to diagnoses of these conditions. Inherited conditions tend to present either in neonatal period or later in life, while acquired conditions typically occur later in life. Diagnostic studies are performed to identify the coagulation cascade deficiency or defect. Treatment primarily hinges on anticoagulation and wound care. In this article, we provide an in-depth analysis of the clinical manifestations, diagnostic considerations, and management options of patients in hypercoagulable states.

  19. Auditory Processing Disorder (APD): Progress in Diagnostics So Far. A Mini-Review on Imaging Techniques.

    PubMed

    Micallef, Lara Angelle

    2015-12-01

    Auditory processing disorder (APD) is a disorder that affects the perception of sound, both verbal and non-verbal. Patients who are generally diagnosed with APD present with abnormal hearing but have normal audiograms. There is no gold standard investigation for APD and no standardized criteria for diagnosis. Because of its disabling effect and the overlap that exists with other neurodevelopmental disorders, there is an urgent need to develop tools and criteria for appropriate diagnosis. There is a current significant focus in research on imaging techniques that can possibly be used in the future for the appropriate diagnosis of APD. Over the years, several imaging techniques have contributed significantly to defining this disorder. To date, no studies have reported the routine use of imaging for the diagnosis of APD. PMID:26915160

  20. Cannabis withdrawal syndrome: An important diagnostic consideration in adolescents presenting with disordered eating.

    PubMed

    Chesney, Tyler; Matsos, Laura; Couturier, Jennifer; Johnson, Natasha

    2014-03-01

    Although previously thought to have no withdrawal symptoms, there is now convergent evidence for a cannabis withdrawal syndrome (CWS), criteria for its diagnosis, and evidence of its impact in the adolescent population. Cannabis withdrawal syndrome represents an important and under-recognized consideration in adolescents with disordered eating. We describe three clinical cases of adolescents presenting to an eating disorders program with primary complaints of gastrointestinal symptoms, food avoidance, and associated weight loss. They did not meet the criteria for an eating disorder, but did fulfill the DSM-5 criteria for CWS. This report emphasizes the importance of considering the impact of heavy cannabis use in adolescents presenting with gastrointestinal complaints, and eating disorder symptoms, including weight loss. PMID:24281745