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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. 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. Copyright © 2010 Elsevier B.V. All rights reserved.

  3. 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

  4. Pediatric Bipolar Disorder: Diagnostic Challenges in Identifying Symptoms and Course of Illness

    PubMed Central

    Singh, Tanvir

    2008-01-01

    Based on available literature, this article reviews the challenges associated with diagnosing pediatric bipolar disorder. The article also reviews and provides discussion on the assessment tools, complex mood cycling, and clinical symptoms of pediatric bipolar disorder. The challenge of differentiating common comorbid disorders like attention deficit hyperactivity disorder and conduct disorder from pediatric bipolar disorder is presented and discussed. A discussion of the validity of diagnosis in longitudinal studies is also provided. PMID:19727283

  5. [Disorders of the origin of the suspensory ligament in the horse: a diagnostic challenge].

    PubMed

    Lischer, Ch J; Bischofberger, A S; Fürst, A; Lang, J; Ueltschi, G

    2006-02-01

    Lameness in horses due to pain originating from the proximal metacarpal/metatarsal region remains a diagnostic challenge. In cases of obvious lameness the pain can be localised to this region by diagnostic anaesthesia. Because a variety of disorders can cause lameness in this region different imaging modalities including radiography, ultrasonography and scintigraphy should be used to arrive at an accurate diagnosis. Even though a precise anatomic-pathologic diagnosis can still be an enigma, because not only bone and joints, but also soft tissue structures including the proximal suspensory ligament, its origin at the proximal metacarpus/ metatarsus, its fascia, the superficial fascia, as well as the intermetacarpal/metatarsal ligaments, the accessory ligament of the deep digital flexor tendon and both digital flexor tendons may be involved. Magnet resonance tomography (MRT) shows a high diagnostic sensitivity in imaging soft tissue structures and bone. In horses MRT is still at the beginning. The MRT appearance of the proximal metacarpal/metatarsal region has not yet been evaluated in detail and there are only few anatomic studies of the origin of the suspensory ligament in horses. The first experiences showed, that more gross and histologic examinations are necessary to fully interpret MRT-images and to differentiate pathologic alterations from clinically not relevant variations.

  6. Challenges associated with a polythetic diagnostic system: criteria combinations in the personality disorders.

    PubMed

    Cooper, Luke D; Balsis, Steve; Zimmerman, Mark

    2010-11-01

    Converging research on the diagnostic criteria for personality disorders (PDs) reveals that most criteria have different psychometric properties. This finding is inconsistent with the PD diagnostic system according to the Diagnostic and Statistical Manual of Mental Disorders (4th ed.; American Psychiatric Association, 1994), which weights each criterion equally. The purpose of the current study was to examine the potential effects of using equal weights for differentially functioning criteria. Data from over 2,100 outpatients were used to analyze and score response patterns to the diagnostic criteria for 9 PDs within an item response theory framework. Results indicated that combinations that included the same number of endorsed criteria yielded differing estimates of PD traits, depending on which criteria were met. Moreover, trait estimates from subthreshold criteria combinations often overlapped with diagnostic (at-threshold or higher) combinations, indicating that there were subthreshold combinations of criteria that indicated as much or more PD than did some combinations at the diagnostic threshold. These results suggest that counting the number of criteria an individual meets provides only a coarse estimation of his or her PD trait level. Implications for the assessment of polythetically defined mental disorders and for the PD proposal for the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders are discussed. PsycINFO Database Record (c) 2010 APA, all rights reserved

  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. DSM-5: Challenging diagnostic testimony.

    PubMed

    Hagan, Leigh D; Guilmette, Thomas J

    2015-01-01

    The Diagnostic and Statistical Manual of Mental Disorders' (DSM) 60-year evolution has not been particularly linear nor cumulative with respect to the process of its construction, its stated purpose, its framework, and inclusion of specific disorders. We consider DSM-5's stated purpose in light of the manual's explicit cautions and other complications encountered when presenting diagnoses in the course of psychological expert testimony under the applicable rules of evidence. This review considers the extent to which DSM-5 bears up under numerous criticisms when employed for forensic purposes and points out challenges that the expert should anticipate when offering diagnostic opinions underpinned by DSM-5 generally and by neurocognitive disorders in particular.

  9. Diagnostic and ethical challenges in disorders of consciousness and locked-in syndrome: a survey of German neurologists.

    PubMed

    Kuehlmeyer, Katja; Racine, Eric; Palmour, Nicole; Hoster, Eva; Borasio, Gian Domenico; Jox, Ralf J

    2012-10-01

    Diagnosis and decisions on life-sustaining treatment (LST) in disorders of consciousness, such as the vegetative state (VS) and the minimally conscious state (MCS), are challenging for neurologists. The locked-in syndrome (LiS) is sometimes confounded with these disorders by less experienced physicians. We aimed to investigate (1) the application of diagnostic knowledge, (2) attitudes concerning limitations of LST, and (3) further challenging aspects in the care of patients. A vignette-based online survey with a randomized presentation of a VS, MCS, or LiS case scenario was conducted among members of the German Society for Neurology. A sample of 503 neurologists participated (response rate 16.4%). An accurate diagnosis was given by 86% of the participants. The LiS case was diagnosed more accurately (94%) than the VS case (79%) and the MCS case (87%, p < 0.001). Limiting LST for the patient was considered by 92, 91, and 84% of the participants who accurately diagnosed the VS, LiS, and MCS case (p = 0.09). Overall, most participants agreed with limiting cardiopulmonary resuscitation; a minority considered limiting artificial nutrition and hydration. Neurologists regarded the estimation of the prognosis and determination of the patients' wishes as most challenging. The majority of German neurologists accurately applied the diagnostic categories VS, MCS, and LiS to case vignettes. Their attitudes were mostly in favor of limiting life-sustaining treatment and slightly differed for MCS as compared to VS and LiS. Attitudes toward LST strongly differed according to circumstances (e.g., patient's will opposed treatment) and treatment measures.

  10. Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders.

    PubMed

    Kim, Young Shin; State, Matthew W

    2014-04-01

    Recent advances in the genetics of neurodevelopmental disorder (NDD) have demonstrated that rare mutations play a role not only in Mendelian syndromes, but in complex, common forms of NDDs as well. Strikingly, both common polymorphisms and rare variations in a single gene or genetic locus have been found to carry risk for conditions previously considered to be clinically and aetiologically distinct. Recent developments in the methods and tools available for studying complex NDDs have led to systematic and reliable genome-wide variant discovery. Both common as well as rare, and structural as well as sequence, genetic variations have been identified as contributing to NDDs. There are multiple examples in which the identical variant had been found to contribute to a wide range of formerly distinct diagnoses, including autism, schizophrenia, epilepsy, intellectual disability and language disorders. These include variations in chromosomal structure at 16p11.2, rare de novo point mutations at the gene SCN2A, and common single nucleotide polymorphisms (SNPs) mapping near loci encoding the genes ITIH3, AS3MT, CACNA1C and CACNB2. These selected examples point to the challenges to current diagnostic approaches. Widely used categorical schema have been adequate to provide an entré into molecular mechanisms of NDDs, but there is a need to develop an alternative, more biologically-relevant nosology. Thus recent advances in gene discovery in the area of NDDs are leading to a re-conceptualization of diagnostic boundaries. Findings suggest that epidemiological samples may provide important new insights into the genetics and diagnosis of NDDs and that other areas of medicine may provide useful models for developing a new diagnostic nosology, one that simultaneously integrates categorical diagnoses, biomarkers and dimensional variables.

  11. Paroxysmal non-kinesigenic dyskinesia, post-streptococcal syndromes and psychogenic movement disorders: a diagnostic challenge

    PubMed Central

    Peila, Elena; Mortara, Paolo; Cicerale, Alessandro; Pinessi, Lorenzo

    2015-01-01

    We report a case of a 15-year-old boy presenting with sudden attacks of hyperkinetic movements of the limbs, trunk and neck. Clinical features were suggestive of paroxysmal non-kinesigenic dyskinesia, but the elevated antistreptolysin O antibody titre and history of recurrent upper airways infection led us to consider a post-streptococcal syndrome as a possible diagnosis. The patient started therapy with benzathine penicillin, sodium valproate and clonazepam without any significant improvement. A successive psychiatric assessment revealed the presence of a psychogenic movement disorder. Psychodynamic psychotherapy and individual counselling were started with progressive improvement of psychological symptoms and gradual resolution of hyperkinetic episodes, without any recurrence recorded during the follow-up (10 months). PMID:25795754

  12. Paroxysmal non-kinesigenic dyskinesia, post-streptococcal syndromes and psychogenic movement disorders: a diagnostic challenge.

    PubMed

    Peila, Elena; Mortara, Paolo; Cicerale, Alessandro; Pinessi, Lorenzo

    2015-03-20

    We report a case of a 15-year-old boy presenting with sudden attacks of hyperkinetic movements of the limbs, trunk and neck. Clinical features were suggestive of paroxysmal non-kinesigenic dyskinesia, but the elevated antistreptolysin O antibody titre and history of recurrent upper airways infection led us to consider a post-streptococcal syndrome as a possible diagnosis. The patient started therapy with benzathine penicillin, sodium valproate and clonazepam without any significant improvement. A successive psychiatric assessment revealed the presence of a psychogenic movement disorder. Psychodynamic psychotherapy and individual counselling were started with progressive improvement of psychological symptoms and gradual resolution of hyperkinetic episodes, without any recurrence recorded during the follow-up (10 months).

  13. The sleepy teenager - diagnostic challenges.

    PubMed

    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.

  14. Invasive mycoses: diagnostic challenges.

    PubMed

    Ostrosky-Zeichner, Luis

    2012-01-01

    Despite the availability of newer antifungal drugs, outcomes for patients with invasive fungal infections (IFIs) continue to be poor, in large part due to delayed diagnosis and initiation of appropriate antifungal therapy. Standard histopathologic diagnostic techniques are often untenable in at-risk patients, and culture-based diagnostics typically are too insensitive or nonspecific, or provide results after too long a delay for optimal IFI management. Newer surrogate markers of IFIs with improved sensitivity and specificity are needed to enable earlier diagnosis and, ideally, to provide prognostic information and/or permit therapeutic monitoring. Surrogate assays should also be accessible and easy to implement in the hospital. Several nonculture-based assays of newer surrogates are making their way into the medical setting or are currently under investigation. These new or up-and-coming surrogates include antigens/antibodies (mannan and antimannan antibodies) or fungal metabolites (d-arabinitol) for detection of invasive candidiasis, the Aspergillus cell wall component galactomannan used to detect invasive aspergillosis, or the fungal cell wall component and panfungal marker β-glucan. In addition, progress continues with use of polymerase chain reaction- or other nucleic acid- or molecular-based assays for diagnosis of either specific or generic IFIs, although the various methods must be better standardized before any of these approaches can be more fully implemented into the medical setting. Investigators are also beginning to explore the possibility of combining newer surrogate markers with each other or with more standard diagnostic approaches to improve sensitivity, specificity, and capacity for earlier diagnosis, at a time when fungal burden is still relatively low and more responsive to antifungal therapy.

  15. Antiphospholipid syndrome: A diagnostic challenge.

    PubMed

    Mallhi, R S; Kushwaha, Neerja; Chatterjee, T; Philip, J

    2016-12-01

    The antiphospholipid syndrome (APS) is an acquired autoimmune thrombophilic disorder that is characterized by thrombosis (venous, arterial and microvascular) and obstetric morbidity due to a diverse family of antibodies against phospholipid-binding proteins present in plasma. The term antiphospholipid antibody is actually a misnomer as the antibodies are not against the phospholipid per se, but target the plasma protein co-factors, which bind to anionic PLs. The exact etiology has not been elucidated and is multifactorial. The initial guidelines for the diagnosis of APS were laid down in Sapporo, 1999, which were subsequently revised as the Sydney Consensus Conference criteria in 2006. Major changes were the inclusion of β2GPI as independent laboratory criteria, addition of ischemic stroke and transient cerebral ischemia as established clinical criteria and the requirement of repeating the test after 12 weeks. The laboratory tests recommended are coagulation assays, which study the effect of lupus anticoagulant on the clotting time and immunological assays, mostly ELISAs to detect IgG and IgM antibodies against cardiolipin and/or β2 glycoprotein I. For the diagnosis of APS, at least one clinical criterion and one laboratory criterion should be present. Limitations pertaining to the standardization, reproducibility and robustness of the currently recommended diagnostic tests still remain. Despite elaborate guidelines and syndrome defining criteria, the diagnosis of APS still remains a challenge. A greater interaction between the clinicians and the laboratory professionals is necessary for arriving at the correct diagnosis as a misdiagnosis of APS can have grave consequences.

  16. Subthreshold bipolarity: diagnostic issues and challenges

    PubMed Central

    Nusslock, Robin; Frank, Ellen

    2012-01-01

    Background Research suggests that current diagnostic criteria for bipolar disorders may fail to include milder, but clinically significant, bipolar syndromes and that a substantial percentage of these conditions are diagnosed, by default, as unipolar major depression. Accordingly, a number of researchers have argued for the upcoming 5th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) to better account for subsyndromal hypomanic presentations. Methods The present paper is a critical review of research on subthreshold bipolarity, and an assessment of some of the challenges that researchers and clinicians might face if the DSM-5 were designed to systematically document subsyndromal hypomanic presentations. Results Individuals with major depressive disorder (MDD) who display subsyndromal hypomanic features, not concurrent with a major depressive episode, have a more severe course compared to individuals with MDD and no hypomanic features, and more closely resemble individuals with bipolar disorder on a number of clinical validators. Conclusion There are clinical and scientific reasons for systematically documenting subsyndromal hypomanic presentations in the assessment and diagnosis of mood disorders. However, these benefits are balanced with important challenges, including (i) the difficulty in reliably identifying subsyndromal hypomanic presentations, (ii) operationalizing subthreshold bipolarity, (iii) differentiating subthreshold bipolarity from borderline personality disorder, (iv) the risk of over-diagnosing bipolar spectrum disorders, and (v) uncertainties about optimal interventions for subthreshold bipolarity. PMID:22085472

  17. Obturator hernia: A diagnostic challenge

    PubMed Central

    Kulkarni, Sanjeev R.; Punamiya, Aditya R.; Naniwadekar, Ramchandra G.; Janugade, Hemant B.; Chotai, Tejas D.; Vimal Singh, T.; Natchair, Arafath

    2013-01-01

    INTRODUCTION Obturator hernia is an extremely rare type of hernia with relatively high mortality and morbidity. Its early diagnosis is challenging since the signs and symptoms are non specific. PRESENTATION OF CASE Here in we present a case of 70 years old women who presented with complaints of intermittent colicky abdominal pain and vomiting. Plain radiograph of abdomen showed acute dilatation of stomach. Ultrasonography showed small bowel obstruction at the mid ileal level with evidence of coiled loops of ileum in pelvis. On exploration, Right Obstructed Obturator hernia was found. The obstructed Intestine was reduced and resected and the obturator foramen was closed with simple sutures. Postoperative period was uneventful. DISCUSSION Obturator hernia is a rare pelvic hernia and poses a diagnostic challenge. Obturator hernia occurs when there is protrusion of intra-abdominal contents through the obturator foramen in the pelvis. The signs and symptoms are non specific and generally the diagnosis is made during exploration for the intestinal obstruction, one of the four cardinal features. Others are pain on the medial aspect of thigh called as Howship Rombergs sign, repeated attacks of Intestinal Obstruction and palpable mass on the medial aspect of thigh. CONCLUSION Obturator hernia is a rare but significant cause of intestinal obstruction especially in emaciated elderly woman and a diagnostic challenge for the Doctors. CT scan is valuable to establish preoperative diagnosis. Surgery either open or laproscopic, is the only treatment. The need for the awareness is stressed and CT scan can be helpful. PMID:23708307

  18. 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.

  19. Molecular diagnostics of neurodegenerative disorders.

    PubMed

    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.

  20. 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

  1. [Acne rosacea--diagnostic challenge].

    PubMed

    Wozniacka, Anna; Kruk, Małgorzata; Robak, Ewa; Sysa-Jedrzejowska, Anna

    2006-01-01

    Acne rosacea is a common skin disorder which affects adults, usually women. Erythema, papules, pustules and telangiectases, the main clinical manifestations of the disease are located on the face. Currently opinions dealing with pathogenesis and clinical forms of rosacea are presented. As the clinical picture might be confusing, similar to other illnesses, differential diagnosis with other dermatoses like acne vulgaris, erysipelas, seborrhoeic and contact eczema as well as systemic diseases like lupus erythematosus, dermatomyositis, scleroderma, sarcoidosis and leukemia were discussed.

  2. [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.

  3. Lipedema: diagnostic and management challenges.

    PubMed

    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.

  4. 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

  5. [Bipolar disorders, challenges and innovations].

    PubMed

    Gard, Sébastien

    2010-01-01

    The treatment of patients suffering from bipolar disorders is a public healthcare challenge. While the clinical profile of these disorders remains complex, it has clearly evolved over the last few years. The healthcare provision has consequently expanded, particularly with regard to psychoeducational programmes. In this context, the FondaMental Foundation is an example of collaborative work acting for the benefit of the patient.

  6. 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.

  7. Scientific methodology in temporomandibular disorders. Part III: Diagnostic reasoning.

    PubMed

    Moses, A J

    1994-10-01

    Temporomandibular disorders (TMD), as a cluster of individual diseases and disorders, pose new intellectual challenges to the diagnostic skills of dentists. New technologies enable dentists to avail themselves of paraclinical data such that diagnosis can and should be disease specific or etiology specific. The importance of logic in diagnostic reasoning is discussed. Studies of the reasoning process of doctors with reputations for having good clinical judgement have resulted in protocols of diagnostic reasoning. Three specific strategies are presented and discussed-probabilistic, causal and deterministic. The difference between intellectual and managerial decisions are explained relative to utility of the strategies.

  8. 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

  9. Geriatric gambling disorder: challenges in clinical assessment.

    PubMed

    Smith, Mara; Hategan, Ana; Bourgeois, James A

    2017-09-13

    To the Editor: The gaming industry is growing rapidly, as is the proportion of older adults aged 65 years or older who participate in gambling (Tse et al., 2012). With casinos tailoring their venues and providing incentives to attract older adults, and with the increasing popularity of "pleasure trips" to casinos organized by retirement homes, plus active promotion of government-operated lotteries in many countries, this trend is likely to continue. Gambling disorder (GD) or "pathological" or "problem" gambling presents a public health concern in the geriatric population. However, ascertainment of its prevalence and diagnostic accuracy have proven challenging. This is largely due to the absence of diagnostic criteria specific to the geriatric age and rating scales validated for use in this population.

  10. Diagnostic approaches to respiratory sleep disorders

    PubMed Central

    2015-01-01

    Sleep disordered breathing (SDB) comprises a number of breathing disturbances occurring during sleep including snoring, the obstructive sleep apnoea/hypopnea syndrome (OSAHS), central sleep apnoea (CSA) and hypoventilation syndromes. This review focuses on sleep disordered breathing and diagnostic approaches in adults, in particular clinical assessment and overnight assessment during sleep. Although diagnostic approaches to respiratory sleep disorders are reasonably straightforward, they do require a degree of clinical acumen when it comes to assessing severity and management options. Diagnosing respiratory sleep disorders on clinical features alone has limitations. Monitoring and measuring respiration during sleep has undergone many advances in the last 40 years in respect of quality and validity, largely regarding OSAHS. Despite the improvement in our diagnostic standards and recognition of sleep disordered breathing, many limitations still need to be overcome. Apart from assessing the individual patient, population screening for sleep disorders continues to preoccupy health professionals and policy makers in many countries. Research in the field is pushing current boundaries in terms of simplifying diagnosis and enhancing screening for sleep disordered breathing in large populations. At present, a number of these newer approaches require further validation. PMID:26380763

  11. Aquagenic urticaria: diagnostic and management challenges

    PubMed Central

    Rothbaum, Robert; McGee, Jean S

    2016-01-01

    Aquagenic urticaria (AU) is a rare inducible form of physical urticaria, which occurs in response to cutaneous exposure to water, including sweat and tears. Patients present with characteristic 1–3 mm folliculocentric wheals with surrounding 1–3 cm erythematous flares within 20–30 minutes following skin contact with water. In rare cases, there are concomitant systemic symptoms, such as wheezing or shortness of breath. The pathogenesis of AU is poorly understood at this time, and it appears to be mediated in both a histamine-dependent and independent manner. Diagnosis is based on eliciting a thorough clinical history combined with a water challenge test. Some patients may need to undergo further testing to exclude other physical urticarias. Rarely, multiple physical urticarias can be present in one patient, which can complicate diagnosis and treatment. Currently, the first-line therapy for AU is an oral administration of nonsedating, second-generation H1 antihistamines, but many patients may require further interventions to have adequate symptomatic control. In this review, we discuss the diagnostic and management challenges of AU. We review the key diagnostic features that differentiate AU from other physical urticarias. We additionally describe a therapeutic ladder for the treatment of AU and the rationale supporting these treatments. PMID:27942227

  12. [Diagnostic imaging of peripheral renal vascular disorders].

    PubMed

    Hélénon, O; Correas, J M; Eiss, D; Khairoune, A; Merran, S

    2004-02-01

    Peripheral vascular disorders of the kidney involve the intrarenal branches of the renal vascular tree. It include occlusive (infarction and cortical necrosis) and non-occlusive vascular lesions (acquired arteriovenous fistulas, arteriovenous malformation, false aneurysms and microaneurysms). Initial diagnosis relies on color Doppler US and CT angiography. Angiography plays a therapeutic role. MR imaging provides useful diagnostic information on perfusion disorders especially in patients with renal insufficiency.

  13. Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias

    PubMed Central

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

    2013-01-01

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

  14. [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. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. Antisocial personality disorder and anxiety disorder: a diagnostic variant?

    PubMed

    Coid, Jeremy; Ullrich, Simone

    2010-06-01

    Antisocial personality disorder (ASPD) with co-morbid anxiety disorder may be a variant of ASPD with different etiology and treatment requirements. We investigated diagnostic co-morbidity, ASPD criteria, and anxiety/affective symptoms of ASPD/anxiety disorder. Weighted analyses were carried out using survey data from a representative British household sample. ASPD/anxiety disorder demonstrated differing patterns of antisocial criteria, co-morbidity with clinical syndromes, psychotic symptoms, and other personality disorders compared to ASPD alone. ASPD criteria demonstrated specific associations with CIS-R scores of anxiety and affective symptoms. Findings suggest ASPD/anxiety disorder is a variant of ASPD, determined by symptoms of anxiety. Although co-morbid anxiety and affective symptoms are the same as in anxiety disorder alone, associations with psychotic symptoms require further investigation. Copyright 2010 Elsevier Ltd. All rights reserved.

  16. Seronegative Intestinal Villous Atrophy: A Diagnostic Challenge.

    PubMed

    Martins, Cláudio; 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.

  17. 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

  18. Tinea cutis glabrae: causes of diagnostic challenge.

    PubMed

    Jakubowicz, Oliwia; Łuczkowska, Magdalena; Żaba, Ryszard; Adamski, Zygmunt

    2014-12-01

    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.

  19. 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

  20. [Diagnostic criteria for neuromyelitisoptica spectrum disorders].

    PubMed

    Belova, A N; Boiko, A N; Belova, E M

    2016-01-01

    The review is devoted to revised international diagnostic criteria for neuromyelitisoptica spectrum disorders (NMOSD).Current diagnostic criteria allow NMOSD diagnosis not only for serum aquaporin-4 immunoglobulin G antibodies (AQP4-IgG)-seropositive patients but for AQP4-IgG-seronegative patients as well. New criteria are expected to make NMOSD diagnosis earlier and more accurate as well as to facilitate the differentiation with multiple sclerosis. Furthermore, unify international criteria should help to perform comparable epidemiologic studies and clinical trials of new drugs for NMOSD.

  1. 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

  2. Acute intermittent porphyria: a diagnostic challenge.

    PubMed

    Anyaegbu, Elizabeth; Goodman, Michael; Ahn, Sun-Young; Thangarajh, Mathula; Wong, Michael; Shinawi, Marwan

    2012-07-01

    Acute intermittent porphyria is a metabolic disorder rarely seen in prepubertal children. A delay in diagnosis of acute intermittent porphyria is common because of variable and nonspecific symptoms. We report an 8-year-old boy with right hemimegalencephaly and intractable seizures, who presented with dark-colored urine, hypertension, increasing lethargy, fluctuating seizures, and poor oral intake. He subsequently developed hyponatremia secondary to syndrome of inappropriate antidiuretic hormone secretion. His urinalysis was negative for red blood cells, and a random urine porphobilinogen level was elevated. Further biochemical and molecular testing confirmed the diagnosis of acute intermittent porphyria. His antiepileptic medications were discontinued and hemin administered, with dramatic clinical improvement. The diagnosis of acute intermittent porphyria was challenging because of his underlying neurologic condition. This case highlights the variable presentation of acute intermittent porphyria and emphasizes the importance of considering the diagnosis even in young patients with underlying neurologic conditions when they present with nonspecific neurovisceral symptoms or with unexplained neurologic deterioration.

  3. Diagnostic Exercise: Neurologic Disorder in a Cat

    DTIC Science & Technology

    1989-12-21

    dogs and a cat . Vet Pathol 1987;24:192-194. 4. Migaki G, Casey HW, Bayles WB. Cerebral phaeohyphomycosis in a dog . J Am Vet Med Assoc 1987;191(8):997...IWORK UNIT ELEMENT NO. NO. NO. ACCESSION NO. 11. TITLE (Include Security Classification) Diagnostic Exercise - Neurologic Disorder in a Cat 12...and identify by block number) This report documents the fifth reported occurrance of cerebral phaeophyphomycosis in cats . Because mycotic

  4. 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.

  5. The diagnostic challenge of Hansen's disease.

    PubMed

    Chambers, James A; Baffi, Cynthia W; Nash, Kevin T

    2009-06-01

    Hansen's disease (HD), formerly referred to as leprosy, actively infects more than 250,000 persons worldwide, with over 2 million currently being treated for sequelae. Over 150 cases are annually reported in the U.S. Although transmission of Hansen's disease to military personnel is rare, physicians caring for those who deploy abroad should be aware of the diagnostic challenges and therapeutic aspects of the disease, as well as its implication for continued military service. Additionally, with U.S. involvement in humanitarian efforts abroad, many military physicians will encounter this condition in indigenous populations. Because of its relative rarity in the U.S. and its protean manifestations, diagnosis is generally delayed 6-12 months, leading to potentially irreversible sequelae. Therefore the clinician should be aware of the presentation of HD as well as the key steps to procuring a diagnosis. This paper reports a case of HD encountered in an active duty, native-born U.S. Air Force aviator.

  6. Diagnostic criteria for complicated grief disorder.

    PubMed

    Horowitz, M J; Siegel, B; Holen, A; Bonanno, G A; Milbrath, C; Stinson, C H

    1997-07-01

    Some prolonged and turbulent grief reactions include symptoms that differ from the DSM-IV criteria for major depressive disorder. The authors investigated a new diagnosis that would include these symptoms. They developed observer-based definitions of 30 symptoms noted clinically in previous longitudinal interviews of bereaved persons and then designed a plan to investigate whether any combination of these would serve as criteria for a possible new diagnosis of complicated grief disorder. Using a structured diagnostic interview, they assessed 70 subjects whose spouses had died. Latent class model analyses and signal detection procedures were used to calibrate the data against global clinical ratings and self-report measures of grief-specific distress. Complicated grief disorder was found to be characterized by a smaller set of the assessed symptoms. Subjects elected by an algorithm for these symptoms patterns did not significantly overlap with subjects who received a diagnosis of major depressive disorder. A new diagnosis of complicated grief disorder may be indicated. Its criteria would include the current experience (more than a year after a loss) of intense intrusive thoughts, pangs of severe emotion, distressing yearnings, feeling excessively alone and empty, excessively avoiding tasks reminiscent of the deceased, unusual sleep disturbances, and maladaptive levels of loss of interest in personal activities.

  7. Diagnostics of ST Plasmas in NSTX: Challenges and Opportunities

    SciTech Connect

    D. Johnson; P. Efthimion; J. Foley; B. Jones; E. Mazzucato; H. Park; G. Taylor; F. Levinton; N. Luhmann

    2001-09-26

    This paper will highlight some of the challenges and opportunities present in the diagnosis of spherical torus (ST) plasmas on the National Spherical Torus Experiment (NSTX) and discuss the corresponding diagnostic development that is presently underway. After a brief description of diagnostic systems currently installed, examples of ST-specific diagnostic challenges will be highlighted, as will another case, where the ST configuration offers opportunities for new measurements.

  8. Neuropathological Diagnostic Considerations in Hyperkinetic Movement Disorders

    PubMed Central

    den Dunnen, Wilfred F. A.

    2013-01-01

    Neuropathology of hyperkinetic movement disorders can be very challenging. This paper starts with basic functional anatomy of the basal ganglia in order to appreciate that focal lesions like for instance tumor or infarction can cause hyperkinetic movement disorders like (hemi)ballism. The neuropathology of different causes of chorea (amongst others Huntington’s disease, neuroacanthosis, and HLD-2) and dystonia (DYT1, PD, and Dopa-Responsive Dystonia) are described. Besides the functional anatomy of the basal ganglia a wider anatomical network view is provided. This forms the basis for the overview of the neuropathology of different forms of tremor. PMID:23420606

  9. Thrombotic Thrombocytopenic Purpura: Three Peripartum Cases and Diagnostic Challenges

    PubMed Central

    Ab Rahman, Wan Suriana Wan; Abdullah, Wan Zaidah; Mustaffa, Rapiaah; Ahmed, Suhair Abbas; Hassan, Mohd Nazri; Husin, Azlan

    2013-01-01

    Thrombotic thrombocytopenic purpura (TTP) is a medical emergency characterized by occlusive microangiopathy due to intravascular platelet aggregation. This event results in damage to the red blood cells (RBCs) known as microangiopathic hemolytic anemia (MAHA). Schistocytes are circulating fragments of damaged RBCs that have different morphological features including keratocytes, helmet cells, and spherocytes. It is critical to report even a small number of these abnormal RBCs in the peripheral blood and to be alert for the possible diagnosis of TTP, especially in unexplained anemia and thrombocytopenia. The application of pentad criteria in the diagnosis has been reviewed, and the challenges still remained on the hematologic evidence of this disorder. In the 3 cases discussed here, the red cell morphological diagnosis gave an impact on TTP diagnosis, but overdiagnosis might be encountered in obstetrical patients due to nonspecific diagnostic criteria. PMID:24093001

  10. 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.…

  11. 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.…

  12. 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)

  13. Diagnostic challenges for multiplexed protein microarrays.

    PubMed

    Master, Stephen R; Bierl, Charlene; Kricka, Larry J

    2006-11-01

    Multiplexed protein analysis using planar microarrays or microbeads is growing in popularity for simultaneous assays of antibodies, cytokines, allergens, drugs and hormones. However, this new assay format presents several new operational issues for the clinical laboratory, such as the quality control of protein-microarray-based assays, the release of unrequested test data and the use of diagnostic algorithms to transform microarray data into diagnostic results.

  14. 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.

  15. Granulomatous mycosis fungoides - A diagnostic challenge*

    PubMed Central

    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

  16. A diagnostic system for organic brain disorders: critique and suggestion.

    PubMed

    Fauman, M A

    1977-01-01

    Organic brain disorders (OBD) are among the most complex psychiatric diagnostic problems. A critique of the American Psychiatric Association's Diagnostic and Statistical Manual (DSM II) and the proposed DSM III suggests that the diagnostic outline for organic brain disorders contained in these publications (Organic Brain Syndromes in the DSM II; Organic Mental Syndromes in the proposed DSM III) is inadequate to describe the potential range of organic-based behavioral disorders and their possible organic etiologies. A new diagnostic system is proposed, with examples, of its use, which should fit in with the DSM II and the proposed DSM III and be flexible enough to overcome the problems of the present diagnostic system.

  17. Hemoglobin e syndromes: emerging diagnostic challenge in north India.

    PubMed

    Sharma, Anjali; Marwah, Sadhna; Buxi, Gurdeep; Yadav, Rajbala

    2013-03-01

    Hemoglobin E (HbE) is one of the world's most common and important mutations. HbE disorders may be found in heterozygous (AE), homozygous (EE) and compound heterozygous state. It is important to distinguish HbE disorders diagnostically because of marked differences in clinical course among different genotypes. To find out whether RBC indices as obtained from automated cell counter can provide a clue to the diagnosis of HbE disease. This study was carried out in the Department of Clinical Pathology, PGIMER, Dr. Ram Manohar Lohia Hospital, New Delhi. It included antenatal pregnant females brought for routine check-up as well as referred patients suspected of having hemoglobinopathies. High Performance liquid chromatography was used as a confirmatory test for identification of hemoglobinopathy. Total 20 cases of subtype homozygous HbE (3), HbE trait (12) and Eβ-thalassemia (5) were identified. Statistical analysis was done to find out correlation between levels of HBA2, HBF with RBC indices. (a) There was negative correlation between HbA2/E peak values and RBC indices (Mean corpuscular volume (MCV) and Mean corpuscular hemoglobin) among all the three groups taken together. (b) There was positive correlation between HbA2/E and Red cell distribution width (RDW). (c) There was positive correlation between HbF values with MCV. The finding of positive correlation between HbA2/E and RDW may help in differentiating βthal (RDW normal) from HbE/βthal. In a patient with microcytic hypochromic blood picture and increased RDW, diagnosis of HbE/βthal should also be considered along with the more common Iron deficiency anemia. Thus, new insights into the knowledge of these diseases are important because they impart diagnostic challenges to all the experts involved in the treatment of anemic patients.

  18. Diagnostic challenge of large congenital liver cyst in the newborn.

    PubMed

    Viswanathan, Sreekanth; Kumar, Deepak

    2014-04-01

    Liver cysts in the newborn often pose significant diagnostic challenges. Described herein is a case of large congenital liver cyst that was difficult to diagnose both antenatally and postnatally and which was later diagnosed as Caroli disease.

  19. Microfluidics-Enabled Diagnostic Systems: Markets, Challenges, and Examples.

    PubMed

    Becker, Holger; Gärtner, Claudia

    2017-01-01

    Microfluidics has become an important tool for the commercial product development in diagnostics. This article will focus on current technical demands during the development process such as material and integration challenges. Furthermore, we present data on the diagnostics market as well as examples of microfluidics-enabled systems currently under commercial development or already on the market.

  20. Diagnostic issues in childhood bipolar disorder.

    PubMed

    Horst, Robert

    2009-03-01

    The field of psychiatry has largely discounted the existence of bipolar disorder (BD) in children and viewed adolescent-onset BD as uncommon until recently. Evidence demonstrating that a significant number of adults with BD report symptom onset before age 19 has led to an explosion in the recognition of childhood BD over the past decade. Because children and adolescents, including preschoolers, are being diagnosed with BD in rapidly increasing numbers, the criteria for mania are being adjusted in children and adolescents to accommodate various presentations of emotional dysregulation into the paradigm of BD. Still, it has yet to be seen whether these presentations will develop in adulthood into what we have traditionally considered to be BD. This blurring of the diagnostic lines has led to significant controversy in the field of child and adolescent psychiatry. This article introduces current thinking about this controversial diagnosis through two case examples.

  1. 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

  2. Martorell's Ulcer: Diagnostic and Therapeutic Challenge

    PubMed Central

    Lima Pinto, Ana Paula Frade; Silva, Nelson Araújo; Osorio, Carolina Teixeira; Rivera, Lina Maria; Carneiro, Sueli; Ramos-e-Silva, Marcia; Gomes Bica, Blanca Elena Rios

    2015-01-01

    Martorell's ulcer is an uncommon ischemic and extremely painful lesion located in the distal portion of the lower limb, resulting from severe systemic and poorly controlled hypertension. It is common in women between 50 and 70 years of age. The diagnosis is clinical and mostly belated, following exclusion of other causes. The response to treatment takes time and is unsatisfactory. A combination of several drugs associated with surgery may be required for wound healing. The authors present a case of Martorell's hypertensive ulcer, with emphasis on the diagnostic and therapeutic difficulties. PMID:26351431

  3. Challenges for rapid molecular HIV diagnostics.

    PubMed

    Schito, Marco L; D'Souza, M Patricia; Owen, S Michele; Busch, Michael P

    2010-04-15

    The introduction of serological point-of-care assays 10 years ago dramatically changed the way that human immunodeficiency virus (HIV) infection was identified and diagnosed. Testing at the point of care has lead to a dramatic increase in the number of individuals who are screened and, most importantly, receive their HIV test result. As the AIDS epidemic continues to mature and scientific advances in prevention and treatment are evaluated and implemented, there is a need to identify acute (viremic preseroconversion) infections and to discriminate "window phase" infections from those that are serologically positive, especially in resource-limited settings, where the majority of vulnerable populations reside and where the incidence of HIV infection is highest. Rapid testing methods are now at a crossroads. There is opportunity to implement and evaluate the incremental diagnostic usefulness of new test modalities that are based on sophisticated molecular diagnostic technologies and that can be performed in settings where laboratory infrastructure is minimal. The way forward requires sound scientific judgment and an ability to further develop and implement these tests despite a variety of technical, social, and operational hurdles, to declare success.

  4. Atypical Bilateral Fuchs Uveitis: Diagnostic Challenges

    PubMed Central

    Couto, Cristóbal; Hurtado, Erika; Faingold, Dana; Demetrio, Carmen; Schlaen, Ariel; Zas, Marcelo; Zarate, Jorge; Rosetti, Silvia; de Lima, Andrea Paes; Croxatto, Juan Oscar; Chiaradía, Pablo; Burnier, Miguel N.

    2015-01-01

    Bilateral Fuchs uveitis associated with vitreous infiltration and posterior segment involvement requires a thorough diagnostic evaluation. The lack of well-defined diagnostic criteria makes identification of this entity difficult. The aim of this case report was to present the characteristics of a patient with atypical Fuchs uveitis and the procedures needed to rule out the differential diagnosis with specific attention to the utility of in vivo confocal microscopy (IVCM). Case Report One case of chronic bilateral uveitis with severe vitreous opacities is presented. After extensive systemic workup, including vitrectomy, the case had no identifiable systemic etiology. IVCM of the cornea revealed the presence of dendritiform keratic precipitates. Conclusion The diagnosis of Fuchs uveitis is based on clinical findings as no confirmatory laboratory tests are available. A high index of suspicion is key to an early diagnosis, especially in the cases with vitreous opacities and posterior segment manifestations. Auxiliary tests such as IVCM may aid the clinician in the diagnosis of Fuchs uveitis. PMID:26483668

  5. Metabolic epilepsies: approaches to a diagnostic challenge.

    PubMed

    Stöckler-Ipsiroglu, Sylvia; Plecko, Barbara

    2009-08-01

    Although inborn errors of metabolism (IEM) are a relatively rare cause of epilepsy in children, their diagnosis is important with respect to treatment, prognosis and genetic counselling. In addition to seizures and epilepsy, IEM may produce a complex clinical picture in which epilepsy is only one of the various neurologic manifestations including developmental delay/regression, mental retardation, movement disorders, micro-/macrocephaly, as well as cerebral grey and white matter changes. Dysmorphic features and cerebral dysgenesis may also be part of a metabolic epilepsy syndrome (e.g. disorders of peroxisomal biogenesis, glutaric aciduria type 2, pyruvate dehydrogenease complex deficiency). Metabolic epilepsies may dominate the clinical presentation (e.g. pyridoxine dependent epilepsy) or may precede further neurologic deterioration (e.g. neuronal ceroid lipofuscinosis) and additional organ involvement (e.g. liver failure in Alpers (POLG1) disease). Metabolic epilepsies often present with myoclonic seizures (e.g. Gaucher Disease type 3, mitochondrial syndromes) and, as a rule, patients presenting with predominantly myoclonic seizures should be carefully investigated for these types of metabolic epilepsies. Patients with very early onset of epilepsy are considered at high risk for an underlying IEM as well. In this review we present an overview of metabolic epilepsies based on various criteria such as treatability, age of onset, seizure type, and pathogenetic background. Exemplary disorders will be described in more detail including cerebral glucose transporter (GLUT1) deficiency, pyridoxine dependent epilepsy, neuronal ceroid lipofuscinosis, cathepsin D deficiency, Alpers syndrome (POLG deficiency), and guanidinoacetate methyltransferase (GAMT) deficiency.

  6. 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…

  7. 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…

  8. 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.

  9. 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.

  10. Cerebral Fat Embolism: A diagnostic challenge

    PubMed Central

    Gupta, Babita; Kaur, Manpreet; D’souza, Nita; Dey, Chandan Kumar; Shende, Seema; Kumar, Atin; Gamangatti, Shivanand

    2011-01-01

    Fat embolism syndrome (FES) is a rare but a serious clinical catastrophe occurring after traumatic injury to long bones. Cerebral involvement in the absence of pulmonary or dermatological manifestation on initial presentation may delay the diagnosis of cerebral fat embolism (CFE). We discuss a case series of CFE which posed a challenge in diagnosis. The clinical presentations of these patients did not satisfy the commonly used clinical criteria for aiding the diagnosis of FES. Early MRI brain (DWI and T2 weighted sequences) in patients with neurological symptoms after trauma even in the absence of pulmonary and dermatological findings should be the goal. PMID:21957425

  11. [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.

  12. Idiopathic pulmonary hemosiderosis - a diagnostic challenge

    PubMed Central

    2014-01-01

    Idiopathic pulmonary hemosiderosis is a rare disorder that can occur at any age and is characterized by the triad of hemoptysis, iron deficiency anemia and diffuse pulmonary infiltrates. The clinical course is exceedingly variable especially in children and a substantial proportion of this age group is undiagnosed. It is probably due to the fact that iron deficiency anemia may be the first and the only manifestation of IPH, preceding other symptoms and signs by several months and IPH is not considered as a rare cause of anemia, unless the typical triad is present. We present a case of IPH in a 13-year-old girl, treated for several months with persistent iron deficiency anemia, without response to therapy. PMID:24708654

  13. Dementia with Lewy bodies: early diagnostic challenges.

    PubMed

    Fujishiro, Hiroshige; Iseki, Eizo; Nakamura, Shinichiro; Kasanuki, Koji; Chiba, Yuhei; Ota, Kazumi; Murayama, Norio; Sato, Kiyoshi

    2013-06-01

    Dementia with Lewy bodies (DLB) is defined pathologically as neurodegeneration associated with Lewy bodies (LB). LB-related symptoms, including olfactory dysfunction, dysautonomia, and mood and sleep disorders, are increasingly recognized as clinical signs that enable the early detection of DLB, because these symptoms often antedate dementia by years or even decades. It remains unknown if the clinical history of LB-related symptoms is sufficient for the prodromal state of DLB to be suspected in memory clinics. We retrospectively investigated the clinical courses, including olfactory dysfunction, dysautonomia, depression, and rapid eye movement sleep behaviour disorder, of 90 patients with probable DLB. The timing of LB-related symptoms that preceded or followed relative to the onset of memory loss was calculated. LB-related symptoms were present in 79 of 90 patients (87.8%) with probable DLB before or at the time of memory loss onset. These symptoms preceded the onset of memory loss between 1.2 and 9.3 years. We also report on four non-demented patients with a clinical history of LB-related symptoms in our memory clinic. All four patients showed reduced cardiac [(123) I]-metaiodobenzylguanidine levels. Moreover, [(18) F]fluoro-D-glucose positron emission tomography scans revealed glucose hypometabolism in the occipital cortex in two patients. One patient converted to probable DLB with the development of parkinsonism 2 years after major depression was diagnosed. Based on a clinical history of LB-related symptoms, we propose a conceptual framework to identify these symptomatic but non-demented individuals that led us to suspect the underlying pathophysiology of Lewy body disease. Further prospective study is warranted to determine the clinical significance of LB-related symptoms in non-demented patients.

  14. Diagnostic Challenges in Inflammatory Choroidal Neovascular Membranes.

    PubMed

    Bansal, Reema; Bansal, Pooja; Gupta, Amod; Gupta, Vishali; Dogra, Mangat R; Singh, Ramandeep; Katoch, Deeksha

    2017-08-01

    To describe the clinical presentations of inflammatory choroidal neovascular membranes (CNVMs) and factors leading to their delayed diagnosis. Retrospective analysis of chart records and digital images of 60 patients (73 eyes) with inflammatory CNVM (January 1998 to December 2013) to obtain demographic and clinical details, particularly the time of the first documentation of inflammatory CNVM by the uveitis specialist, time of its actual appearance on digital images, and the earliest clinical indicators of a CNVM. In total, 14 (19.2%) eyes had a delayed diagnosis of inflammatory CNVMs, of which five developed significant visual loss. The earliest clinical indicators of CNVM that were overlooked initially due to their subtle appearance, included a tiny subretinal hemorrhage (five eyes), peripapillary halo/fluid/scar (eight eyes), and a subfoveal scar (one eye). The causes of uveitis in these eyes included Vogt-Koyanagi-Harada disease (five eyes, 35.7%), tubercular uveitis (five eyes, 35.7%), idiopathic (three eyes, 21.4%), and sympathetic ophthalmia (one eye, 7.1%). Presence of significant background fundus scarring, sunset glow fundus, visually significant cataract, poorly dilating pupil, media haze due to vitritis, cystoid macular edema, and multiple chorioretinal scars in these eyes probably predisposed to delayed detection of an underlying CNVM. A high index of suspicion and comparison of serial fundus photographs to identify the earliest clues of inflammatory CNVMs are important to prevent diagnostic delays and poorer outcomes.

  15. Malignant ameloblastoma: classification, diagnostic, and therapeutic challenges.

    PubMed

    Verneuil, Andrew; Sapp, Philip; Huang, Catherine; Abemayor, Elliot

    2002-01-01

    Ameloblastoma is a benign odontogenic neoplasm of the mandible and maxilla that rarely exhibits malignant behavior. We report the case of an aggressive malignant ameloblastoma of the mandible that presented with an unusual multiphasic, histologic pattern. Initial fine needle aspiration and radiographic findings showed features consistent with a benign, fibro-osseous lesion. However, aggressive growth and the association of enlarged submandibular lymph nodes suggested a more malignant potential. Treatment consisted of an angle-to-angle composite mandibular resection, right modified neck dissection, left functional supraomohyoid neck dissection, and anterior chin skin resection with iliac crest osteocutaneous free flap reconstruction. Microscopic evaluation showed primarily malignant ameloblastoma without cellular atypia and extensive fields of fibro-osseous tissue with smaller fields of clear cell odontogenic tumor. This multiphasic, histologic arrangement may explain the perplexing preoperative microscopic diagnosis, suggesting a benign fibro-osseous lesion. Of the lymph nodes analyzed, one from the right submandibular triangle exhibited metastatic, benign-appearing ameloblastoma without fibro-osseous or clear cell features. The absence of cellular features of malignancy in the tumor mass and lymph node metastasis suggest that the lesion should be classified as malignant ameloblastoma rather than ameloblastic carcinoma or odontogenic carcinoma. A malignant ameloblastoma with all 3 of the aforementioned microscopic features has not been previously reported. We review the classification of epithelial odontogenic malignancies. Lesions showing multiphasic patterns can create diagnostic dilemmas and may require extensive surgical sampling and/or removal to establish an accurate diagnosis.

  16. [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.

  17. Candidate Genes for Cannabis Use Disorders: Findings, Challenges and Directions

    PubMed Central

    Agrawal, Arpana; Lynskey, Michael T.

    2009-01-01

    Aim Twin studies have shown that cannabis use disorders (abuse/dependence) are highly heritable. This review aims to: (i) review existing linkage studies of cannabis use disorders and (ii) review gene association studies, to identify potential candidate genes, including those that have been tested for composite substance use disorders, and (iii) to highlight challenges in the genomic study of cannabis use disorders. Methods Peer-reviewed linkage and candidate gene association studies are reviewed. Results Four linkage studies are reviewed: results from these have homed in on regions on chromosomes 1, 3, 4, 9, 14, 17 and 18, which harbor candidates of predicted biological relevance, such as monoglyceride lipase (MGL) on chromosome 3, but also novel genes, including ELTD1 (EGF, latrophilin and seven transmembrane domain containing 1) on chromosome 1. Gene association studies are presented for (a) genes posited to have specific influences on cannabis use disorders: CNR1, CB2, FAAH, MGL, TRPV1 and GPR55 and (b) genes from various neurotransmitter systems that are likely to exert a non-specific influence on risk of cannabis use disorders e.g. GABRA2, DRD2 and OPRM1. Conclusions There are challenges associated with (i) understanding biological complexity underlying cannabis use disorders (including the need to study gene-gene and gene-environment interactions), (ii) using diagnostic versus quantitative phenotypes, (iii) delineating which stage of cannabis involvement (e.g. use vs. misuse) genes influence and (iv) problems of sample ascertainment. PMID:19335651

  18. Blunt Cardiac Rupture: A Diagnostic Challenge

    PubMed Central

    Kumar, Vineet; Dharap, Satish Balkrishna

    2016-01-01

    Blunt Cardiac Rupture (BCR) is a life threatening injury. Majority of patients do not reach the hospital and in those who reach the emergency department, timely diagnosis and treatment is a challenge. The case is about a patient with multiple blunt injuries who presented in shock. Cardiac tamponade was suspected on clinical grounds and on evidence of mediastinal widening on radiograph. In the absence of songography, the diagnosis was confirmed by subxiphoid pericardial window. Emergency thoracotomy revealed a right atrial appendage rupture which was surgically corrected. The patient also underwent splenectomy for grade IV splenic injury. Liver injury, pubic diastasis and tibial spine avulsion fracture was managed conservatively. He recovered well. Systematic observance of trauma resuscitation guidelines can help salvage patients with life threatening complex injuries even in the absence of specialized imaging investigations. PMID:28050441

  19. Acute blue finger: a diagnostic challenge

    PubMed Central

    Farag, Mohamed; Elmasry, Mohamed; Mabote, Thato; Elsayed, Ayman; Sunthareswaran, Rame

    2014-01-01

    The management of the acute blue finger is controversial with many regarding it as a benign condition. However, we would argue that it should always be considered as an emergency. We present a challenging case of a 43-year-old woman who presented with a 1-week history of sudden onset blue discolouration of the left fifth digit, and a 6-week history of episodic joint problems. Examination showed bilateral normal radial and ulnar pulses. Following blood investigations, an initial working diagnosis of early rheumatoid arthritis with associated Raynaud's phenomenon was made. Also, infective endocarditis was considered due to temporary misleading physical signs. Later, CT angiography of the left upper limb arteries showed a significant proximal left subclavian stenosis. Subsequently, a diagnosis of the left subclavian arteritis associated with digit ischaemia from embolic debris was made and the patient underwent a left subclavian angioplasty. However, delayed management resulted in a necrotic digit, which was left to autoamputate. PMID:24429047

  20. 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.

  1. Persistent genital arousal disorder: a clinical challenge

    PubMed Central

    Gadit, Amin

    2013-01-01

    A 54-year-old woman presented to a community-based psychiatric clinic with unique problem of persistent genital arousal disorder. All relevant investigations were normal. Treatment with psychotropic medication and psychotherapy did not help. The patient though reported improvement in mood. The patient has been followed up since 2011 and visits the clinic every 3 months without much improvement in the disorder. Hence, this case has become a clinical challenge in terms of treatment. PMID:23697448

  2. 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

  3. 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…

  4. 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…

  5. Xanthogranulomatous cholecystitis--a diagnostic challenge.

    PubMed

    Jetley, Sujata; Rana, Safia; Khan, Rehan Nabi; Jairajpuri, Zeeba Shamim

    2012-11-01

    Xanthogranulomatous cholecystitis is a benign, uncommon variant of chronic cholecystitis characterised by focal or diffuse destructive inflammation of the gall bladder. The present study was undertaken to analyse the clinical presentation, pre-operative imaging, intra-operative findings and histological features of xanthogranulomatous cholecystitis and the results compared with those in the literature. Thirteen histologically confirmed cases of xanthogranulomatous cholecystitis were identified from the retrospective analysis of the patient records of 217 cholecystectomies performed during the period January 2011 to March 2012 at the Hakeem Abdul Hameed Centenary Hospital, New Delhi. The clinical, radiological and operative details of these patients have been analysed. The incidence of xanthogranulomatous cholecystitis was 6% and age range was between 25 and 62 years with a mean age of 40.3 years. A female: male ratio was 1.6:1. Chronic right upper quadrant pain was the most common clinical presentation. In 2 patients, a gall bladder carcinoma was suspected radiologically as well as clinically, but was later disproved on histology. Abdominal ultrasound scan showed marked thickening of the gall bladder wall in 11 cases (84.6%). Laproscopic procedure required conversion to an open procedure in 8 patients (61.5% conversion rate). Histologically focal or diffuse inflammation with foamy histiocytes, inflammatory cells, giant cells and fibroblasts in varying proportion were seen. Xanthogranulomatous cholecystitis is an unusual destructive inflammatory process, characterised by severe fibrosis and gall bladder wall thickening presenting as a gall bladder mass that mimics gall bladder carcinoma. The pre- and intra-operative differential diagnosis of the disease still remains a challenge to the practising surgeon and histological assessment of all gall bladders excised for xanthogranulomatous cholecystitis is critical, considering the occasional coexistence with gall bladder

  6. Gender identity disorders: diagnostic and surgical aspects.

    PubMed

    Sohn, Michael; Bosinski, Hartmut A G

    2007-09-01

    Transsexualism is defined as a strong and persistent cross-gender identification with the patient's persistent discomfort with his or her sex and a sense of inappropriateness in the gender role of that sex (Diagnostic and Statistical Manual of Mental Disorders, fourth revision, text revision [DSM-IV-TR]). The disturbance is not concurrent with a physical intersex condition and causes clinical distress or impairment in social, occupational, or other important areas of functioning. The trained mental health professional is obliged to find out if the patient fulfills the criteria of an irreversible gender transposition and if he or she will benefit from medical (hormonal and surgical) sex-reassignment treatment. If a patient has absolved 12 months of real-life experience and at least 6 months of continuous hormonal treatment, the indication for surgical sex reassignment may be given. Genital sex-reassignment in male-to-female transsexuals includes vaginoplasty, preferably by inversion of penoscrotal skin flaps, clitoroplasty, and vulvoplasty. The operation may be performed in one or two sessions. In contrast to genital reassignment in male-to-female patients, no operative standards are available in female-to-male subjects. Recently, neophallus creation from sensate free forearm flaps has emerged as the most promising approach for those patients who want to have a neophallus. Other alternatives such as metoidoioplasty or neophallus reconstruction from regional flaps exist, but are also accompanied by multiple possible complications and re-interventions. Best results are to be expected when using multidisciplinary teams of plastic surgeons, urologists, gynecologists, and experts in sexual medicine in large volume centers.

  7. The relationship between challenging parenting behaviour and childhood anxiety disorders.

    PubMed

    Lazarus, Rebecca S; Dodd, Helen F; Majdandžić, Mirjana; de Vente, Wieke; Morris, Talia; Byrow, Yulisha; Bögels, Susan M; Hudson, Jennifer L

    2016-01-15

    This research investigates the relationship between challenging parenting behaviour and childhood anxiety disorders proposed by Bögels and Phares (2008). Challenging parenting behaviour involves the playful encouragement of children to go beyond their own limits, and may decrease children's risk for anxiety (Bögels and Phares, 2008). Parents (n=164 mothers and 144 fathers) of 164 children aged between 3.4 and 4.8 years participated in the current study. A multi-method, multi-informant assessment of anxiety was used, incorporating data from diagnostic interviews as well as questionnaire measures. Parents completed self-report measures of their parenting behaviour (n=147 mothers and 138 fathers) and anxiety (n=154 mothers and 143 fathers). Mothers reported on their child's anxiety via questionnaire as well as diagnostic interview (n=156 and 164 respectively). Of these children, 74 met criteria for an anxiety disorder and 90 did not. Fathers engaged in challenging parenting behaviour more often than mothers. Both mothers' and fathers' challenging parenting behaviour was associated with lower report of child anxiety symptoms. However, only mothers' challenging parenting behaviour was found to predict child clinical anxiety diagnosis. Shared method variance from mothers confined the interpretation of these results. Moreover, due to study design, it is not possible to delineate cause and effect. The finding with respect to maternal challenging parenting behaviour was not anticipated, prompting replication of these results. Future research should investigate the role of challenging parenting behaviour by both caregivers as this may have implications for parenting interventions for anxious children. Crown Copyright © 2015. Published by Elsevier B.V. All rights reserved.

  8. Retroperitoneal Tumors in the Pelvis: A Diagnostic Challenge in Gynecology

    PubMed Central

    Wee-Stekly, Wei-Wei; Mueller, Michael David

    2014-01-01

    Retroperitoneal tumors can pose a diagnostic and therapeutic challenge to gynecologists because of their rarity, late presentation, and complex anatomical location in the retroperitoneum. This article reviews the diagnosis and management of retroperitoneal tumors in the pelvis, and highlights the potential pitfalls that may be faced by gynecologists. PMID:25593973

  9. Diagnostic Differentiation of Autism Spectrum Disorders and Pragmatic Language Impairment

    ERIC Educational Resources Information Center

    Reisinger, Lisa M.; Cornish, Kim M.; Fombonne, Eric

    2011-01-01

    The present study examined diagnostic differentiation between school-aged children with autism spectrum disorders (ASD) and children with pragmatic language impairment (PLI). Standardized diagnostic instruments were used to investigate the relationship between severity of "autism triad" impairments and group membership. The Autism Diagnostic…

  10. Diagnostic Differentiation of Autism Spectrum Disorders and Pragmatic Language Impairment

    ERIC Educational Resources Information Center

    Reisinger, Lisa M.; Cornish, Kim M.; Fombonne, Eric

    2011-01-01

    The present study examined diagnostic differentiation between school-aged children with autism spectrum disorders (ASD) and children with pragmatic language impairment (PLI). Standardized diagnostic instruments were used to investigate the relationship between severity of "autism triad" impairments and group membership. The Autism Diagnostic…

  11. 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…

  12. 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…

  13. 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…

  14. 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…

  15. Neuromodulation for Brain Disorders: Challenges and Opportunities

    PubMed Central

    Johnson, Matthew D.; Lim, Hubert H.; Netoff, Theoden I.; Connolly, Allison T.; Johnson, Nessa; Roy, Abhrajeet; Holt, Abbey; Lim, Kelvin O.; Carey, James R.; Vitek, Jerrold L.

    2013-01-01

    The field of neuromodulation encompasses a wide spectrum of interventional technologies that modify pathological activity within the nervous system to achieve a therapeutic effect. Therapies including deep brain stimulation (DBS), intracranial cortical stimulation (ICS), transcranial direct current stimulation (tDCS), and transcranial magnetic stimulation (TMS) have all shown promising results across a range of neurological and neuropsychiatric disorders. While the mechanisms of therapeutic action are invariably different amongst these approaches, there are several fundamental neuroengineering challenges that are commonly applicable to improving neuromodulation efficacy. This article reviews the state-of-the-art of neuromodulation for brain disorders and discusses the challenges and opportunities available for clinicians and researchers interested in advancing neuromodulation therapies. PMID:23380851

  16. 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

  17. Giant rectal gastrointestinal stromal tumours: a diagnostic and therapeutic challenge

    PubMed Central

    Alder, L.S.; Elver, G.; Foo, F.J.; Dobson, M.

    2013-01-01

    Gastrointestinal stromal tumour (GIST are the most common mesenchymal tumours; however, rectal GISTs account for <5%. In the pelvis they represent a diagnostic challenge with giant GISTs likely to be malignant. They may present with urological, gynaecological or rectal symptoms. Sphincter-preserving surgery can be aided by neoadjuvant therapy. We present an uncommon case of giant rectal GIST masquerading as acute urinary retention. PMID:24968434

  18. Regulatory challenges for in vitro diagnostics in a global environment.

    PubMed

    Longwell, A

    1994-06-01

    U.S. medical products are marketed globally and are designed to meet needs of medical practitioners and their patients throughout the world. However, differences in how these products are regulated in different countries can pose challenges for the global marketer. This paper explores some of the differences between proposed and extant U.S. and European regulations for in vitro diagnostic products in terms of documentation, records, and labelling. It will describe some of the practical implications of these differences.

  19. The effects of developmental quotient and diagnostic criteria on challenging behaviors in toddlers with developmental disabilities.

    PubMed

    Medeiros, Kristen; Kozlowski, Alison M; Beighley, Jennifer S; Rojahn, Johannes; Matson, Johnny L

    2012-01-01

    Previous research has found that individuals with intellectual disability and/or autism spectrum disorder (ASD), and those with greater symptom severity within these diagnoses, show higher rates of aggressive/destructive behavior, stereotypic behavior, and self-injurious behavior. In this exploratory cross-sectional study, toddlers at-risk for a developmental disorder (n=1509) ranging from 17 to 36 months fell into one of three diagnostic categories: Autistic Disorder, Pervasive Developmental Disorder-Not Otherwise Specified [PDD-NOS], and atypically developing - no ASD diagnosis. Mental health professionals from EarlySteps, Louisiana's Early Intervention System, interviewed parents and guardians using the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) -Part 3 (Matson, Boisjoli, & Wilkins, 2007) to obtain measures of challenging behaviors and the Battelle Developmental Inventory, 2nd Edition (BDI-2) (Newborg, 2005) to obtain developmental quotients (DQ). Toddlers diagnosed with Autistic Disorder or PDD-NOS showed a positive relationship between total DQ and challenging behavior; whereas, atypically developing toddlers with no ASD diagnosis showed a more adaptive, negative relationship. The DQ domains that were most influential on challenging behaviors varied by diagnosis, with communication and motor domains playing greater roles for toddlers with Autistic Disorder or PDD-NOS, and personal-social and cognitive domains playing greater roles for atypically developing toddlers with no ASD diagnosis. Copyright © 2012 Elsevier Ltd. All rights reserved.

  20. Is expressive language disorder an accurate diagnostic category?

    PubMed

    Leonard, Laurence B

    2009-05-01

    To propose that the diagnostic category of "expressive language disorder" as distinct from a disorder of both expressive and receptive language might not be accurate. Evidence that casts doubt on a pure form of this disorder is reviewed from several sources, including the literature on genetic findings, theories of language impairments, and the outcomes of late talkers with expressive language delays. Areas of language that are problematic in production but not readily amenable to comprehension testing are also discussed. The notion of expressive language disorder has been formalized in classification systems and is implicit if not explicit in the organization of many standardized tests. However, a close inspection of the evidence suggests that deficits in language expression are typically accompanied by limitations in language knowledge or difficulties processing language input. For this reason, the diagnostic category of expressive language disorder should be used with considerable caution. This view has implications for both research and clinical practice.

  1. Comparison of diagnostic guidelines for juvenile bipolar disorder.

    PubMed

    Cahill, Catherine; Hanstock, Tanya; Jairam, Rajeev; Hazell, Philip; Walter, Garry; Malhi, Gin S

    2007-06-01

    The purpose of the present paper was to compare currently available diagnostic guidelines for juvenile bipolar disorder with respect to utility in research and clinical practice. A systematic search of psychiatric, medical and psychological databases was conducted using the terms 'juvenile bipolar disorder', 'paediatric bipolar disorder' and 'guidelines'. Three main sets of guidelines issued by the National Institute of Health and Clinical Excellence (UK), The National Institute of Mental Health (USA) and Child Psychiatric Workshop (USA) were found. There were key differences in the recommendations made by each regarding the diagnosis and symptomatic presentation of juvenile bipolar disorder. Although the diagnosis of juvenile bipolar disorder is gaining increased recognition, its definition remains controversial. It is recommended that clinicians and researchers need to develop diagnostic guidelines that have clinical salience and can be used for future research by incorporating key features of those that are currently available.

  2. 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. © 2014 John Wiley & Sons Ltd.

  3. 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.

  4. 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…

  5. 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…

  6. 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.

  7. [Cochleovestibular disorders: approaches to diagnostics and treatment].

    PubMed

    Zaĭtseva, O V

    2011-01-01

    The aim of this work was to evaluate the efficacy of introduction of milgamma and milgamma compositum in the treatment of 52 patients with cochleovestibular disorders of different etiology. Thirteen patients enrolled in the study received standard therapy and 39 others were given its combination with milgamma preparations. Combined therapy with milgamma and milgamma compositum ensured faster vestibular compensation including posturographic characteristics than the standard treatment (within 3-4 weeks compared with 5 weeks in controls). The results of the study give reason to recommend milgamma and milgamma compositum as neurotropic medicines in addition to standard therapy for the management of the patients presenting with cochleovestibular disorders for the acceleration of the vestibular compensation.

  8. Congenital intestinal diarrhoeal diseases: A diagnostic and therapeutic challenge.

    PubMed

    Posovszky, C

    2016-04-01

    Congenital diarrhoeal disorders are a heterogeneous group of inherited malabsorptive or secretory diseases typically appearing in the first weeks of life, which may be triggered by the introduction of distinct nutrients. However, they may also be unrecognised for a while and triggered by exogenous factors later on. In principle, they can be clinically classified as osmotic, secretory or inflammatory diarrhoea. In recent years the disease-causing molecular defects of these congenital disorders have been identified. According to the underlying pathophysiology they can be classified into four main groups: 1) Defects of digestion, absorption and transport of nutrients or electrolytes 2) Defects of absorptive enterocyte differentiation or polarisation 3) Defects of the enteroendocrine cells 4) Defects of the immune system affecting the intestine. Here, we describe the clinical presentation of congenital intestinal diarrhoeal diseases, the diagnostic work-up and specific treatment aspects.

  9. Historical Underpinnings of Bipolar Disorder Diagnostic Criteria.

    PubMed

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

    2016-07-15

    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.

  10. 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

  11. 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

  12. 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

  13. Intracranial arachnoid cyst on dental radiography: a diagnostic challenge.

    PubMed

    Sun, Lisha; Sun, Zhipeng; Ma, Xuchen

    2013-03-01

    Intracranial arachnoid cysts (IACs) can present as congenital asymptomatic lesions that may predispose them to present as an incidental finding during radiographic examination. On the other hand, IACs may also give rise to a series of neurologic symptoms depending on their size and location, such as vomiting, seizures, headache, and ataxia. Skull deformities, including macrocephaly, may occur and become remarkable on dental radiology. We report 2 patients who were identified with IAC before orthodontic treatment. The dental radiologic appearance of IAC is discussed and may constitute a diagnostic challenge to both the dentist and radiologist.

  14. 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

  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 classification of shoulder disorders: interobserver agreement and determinants of disagreement

    PubMed Central

    de Winter, A. F; Jans, M.; Scholten, R.; Deville, W.; van Schaardenburg, D.; Bouter, L.

    1999-01-01

    OBJECTIVES—To assess the interobserver agreement on the diagnostic classification of shoulder disorders, based on history taking and physical examination, and to identify the determinants of diagnostic disagreement.
METHODS—Consecutive eligible patients with shoulder pain were recruited in various health care settings in the Netherlands. After history taking, two physiotherapists independently performed a physical examination and subsequently the shoulder complaints were classified into one of six diagnostic categories: capsular syndrome (for example, capsulitis, arthritis), acute bursitis, acromioclavicular syndrome, subacromial syndrome (for example, tendinitis, chronic bursitis), rest group (for example, unclear clinical picture, extrinsic causes) and mixed clinical picture. To quantify the interobserver agreement Cohen's κ was calculated. Multivariate logistic regression analysis was applied to determine which clinical characteristics were determinants of diagnostic disagreement.
RESULTS—The study population consisted of 201 patients with varying severity and duration of complaints. The κ for the classification of shoulder disorders was 0.45 (95% confidence intervals (CI) 0.37, 0.54). Diagnostic disagreement was associated with bilateral involvement (odds ratio (OR) 1.9; 95% CI 1.0, 3.7), chronic complaints (OR 2.0; 95% CI 1.1, 3.7), and severe pain (OR 2.7; 95% CI 1.3, 5.3).
CONCLUSIONS—Only moderate agreement was found on the classification of shoulder disorders, which implies that differentiation between the various categories of shoulder disorders is complicated. Especially patients with high pain severity, chronic complaints and bilateral involvement represent a diagnostic challenge for clinicians. As diagnostic classification is a guide for treatment decisions, unsatisfactory reproducibility might affect treatment outcome. To improve the reproducibility, more insight into the reproducibility of clinical findings and the value of

  17. 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

  18. Diagnostic issues affecting the epidemiology of fetal alcohol spectrum disorders.

    PubMed

    Farag, Mena

    2014-01-01

    Epidemiological measures of the prevalence of fetal alcohol spectrum disorders (FASD) vary greatly in the literature. Irrespective of the methodology, the criteria to define a 'case' are set by the researchers. Hence, estimates of the prevalence of FASD primarily depend on the diagnostic criteria currently available. The problem lies therein - the aforementioned criteria are ill-defined. A critical analysis of the diagnostic criteria from the Institute of Medicine, Hoyme, 4-Digit Diagnostic Code and Canadian guidelines was performed, with particular attention focused on the inconsistencies in specificities of the fetal alcohol syndrome (FAS) facial phenotype. To date, the Canadian guidelines represent the only guidelines that have pushed for a uniform diagnostic capacity through harmonizing the IoM and 4-Digit Diagnostic Code criteria. In the absence of a reliable biochemical marker of effect to confirm maternal drinking during pregnancy, the importance and dependence on diagnostic guidelines for FASD is understated. With the availability of four published guidelines for diagnoses across the spectrum of FASD, there is a need to reach a set standard globally. There are profound implications of relaxed and strict diagnostic approaches on FAS prevalence reporting in the literature. This review exposes the clinical burden of diagnosing the range of FASD with disputing diagnostic criteria. Discrepancies in the criteria pose a danger to the validity of FASD diagnoses with respect to inaccurate estimates of incidence and prevalence. In turn, these discrepancies risk compromising the future healthcare of affected individuals with regards to intervention, counselling and treatment.

  19. Psychiatric comorbidities in asperger syndrome and high functioning autism: diagnostic challenges.

    PubMed

    Mazzone, Luigi; Ruta, Liliana; Reale, Laura

    2012-06-25

    Several psychiatric conditions, both internalizing and externalizing, have been documented in comorbidity with Asperger Syndrome (AS) and High Functioning Autism (HFA). In this review we examine the interplay between psychiatric comorbidities and AS/HFA. In particular, we will focus our attention on three main issues. First, we examine which psychiatric disorders are more frequently associated with AS/HFA. Second, we review which diagnostic tools are currently available for clinicians to investigate and diagnose the associated psychiatric disorders in individuals with AS/HFA. Third, we discuss the challenges that clinicians and researchers face in trying to determine whether the psychiatric symptoms are phenotypic manifestations of AS/HFA or rather they are the expression of a distinct, though comorbid, disorder. We will also consider the role played by the environment in the manifestation and interpretation of these symptoms. Finally, we will propose some strategies to try to address these issues, and we will discuss therapeutic implications.

  20. Psychiatric comorbidities in asperger syndrome and high functioning autism: diagnostic challenges

    PubMed Central

    2012-01-01

    Several psychiatric conditions, both internalizing and externalizing, have been documented in comorbidity with Asperger Syndrome (AS) and High Functioning Autism (HFA). In this review we examine the interplay between psychiatric comorbidities and AS/HFA. In particular, we will focus our attention on three main issues. First, we examine which psychiatric disorders are more frequently associated with AS/HFA. Second, we review which diagnostic tools are currently available for clinicians to investigate and diagnose the associated psychiatric disorders in individuals with AS/HFA. Third, we discuss the challenges that clinicians and researchers face in trying to determine whether the psychiatric symptoms are phenotypic manifestations of AS/HFA or rather they are the expression of a distinct, though comorbid, disorder. We will also consider the role played by the environment in the manifestation and interpretation of these symptoms. Finally, we will propose some strategies to try to address these issues, and we will discuss therapeutic implications. PMID:22731684

  1. Treating childrens' severe behavior disorders: a behavioral diagnostic system.

    PubMed

    Cipani, E

    1994-12-01

    This paper presents a behaviorally-oriented four-category diagnostic system for assessing and diagnosing severe behavior disorders. The model categorizes problem behavior in terms of its environmental function. The possibility of behaviors serving multiple functions and the ramifications for treatment prescription are discussed.

  2. 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…

  3. 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

  4. 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.

  5. 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…

  6. Cystic pancreatic neuroendocrine tumors: To date a diagnostic challenge.

    PubMed

    Caglià, Pietro; Cannizzaro, Maria Teresa; Tracia, Angelo; Amodeo, Luca; Tracia, Luciano; Buffone, Antonino; Amodeo, Corrado; Cannizzaro, Matteo Angelo

    2015-09-01

    Cystic PNETs are an uncommon neoplasms increasingly detected in current clinical practice which often present a diagnostic challenges to both the experienced radiologist and pathologist. The aim of this study was to review the available literature to summarize current data that compare and evaluate both the clinical and pathologic features of cystic pancreatic neuroendocrine tumors. A systematic review of the current literature was performed using the search engines EMBASE and PubMed to identify all studies reporting on cystic pancreatic neuroendocrine tumors. The MeSH search terms used were "cystic pancreatic neuroendocrine tumors", "endocrine neoplasms", and "pancreatic cysts". Multiple combinations of the keywords and MeSH terms were used. The clinical evaluation of cystic pancreatic lesions appears to suffer from same limitations despite the improvement in the diagnostic tools. Subsequently, we highlight diagnostic pitfalls and differential diagnosis of these cystic tumors. In this review we discuss current advances in the application of the imaging modalities and characteristics features with special emphasize on endoscopic ultrasound (EUS), and EUS guide fine needle aspiration (EUS-FNA). Cystic neuroendocrine tumor in the pancreas underlines the clinical impact of endoscopic ultrasound in the work-up of patients with unclear lesions in the pancreas. EUS-FNA cytology and cyst fluid analysis is a useful adjunct to abdominal imaging for the diagnosis of pancreatic cystic lesions. Due to the evident diagnostic difficulties, we hypothesize that cyst fluid characteristics, including cytomorphological features, is the most accurate test to achieve a preoperative diagnosis and to provide a basis for prognostic prediction. Copyright © 2015 IJS Publishing Group Limited. Published by Elsevier Ltd. All rights reserved.

  7. [Adult onset Still's disease as a diagnostics challenge in case of fever of unknown origin].

    PubMed

    Debski, Marcin; Stepniewski, Piotr; Wróbel, Michał

    2013-01-01

    Fever of unknown origin is often a diagnostic challenge. Here we present a case of 55-year-old woman with a history of a few months fever, progressing weakness and salmon-coloured, macular skin rash. The differential diagnosis included neoplasmatic conditions, infections and connective tissue disorders. Finally adult onset Still's disease was suspected. Glucocorticosteroid treatment was induced. During the therapy a central nervous system infection occurred, which was fatal for the patient. The presented clinical case shows that among many causes of fever of unknown origin, adult onset Still's disease should be taken into account.

  8. 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

  9. 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

  10. Diagnostic Efficiency of Symptoms for Oppositional Defiant Disorder and Attention-Deficit Hyperactivity Disorder.

    ERIC Educational Resources Information Center

    Waldman, Irwin D.; Lilienfeld, Scott O.

    1991-01-01

    Examined diagnostic efficiency of symptoms for experimentally diagnosed oppositional defiant disorder (OD) and attention-deficit hyperactivity disorder (ADHD) in 102 elementary-age boys. Findings from teacher ratings revealed that, on average, ADHD symptoms were as useful as OD symptoms as exclusion criteria for OD, whereas OD symptoms were nearly…

  11. Benefits and challenges of molecular diagnostics for childhood tuberculosis.

    PubMed

    Gutierrez, Cristina

    2016-12-01

    Expanding tuberculosis (TB)-diagnostic services, including access to rapid tests, is a World Health Organization (WHO) strategy to accelerate progress toward ending TB. Faster and more sensitive molecular tests capable of diagnosing TB and drug-resistant TB have the technical capacity to address limitations associated with smears and cultures by increasing accuracy and shortening turnaround times as compared with those of these conventional laboratory methods. Nucleic acid amplification assays used to detect and analyze Mycobacterium tuberculosis (MTB)-complex nucleic acids can be used directly on specimens from patients suspected of having TB. Recently, several commercial molecular tests were developed to detect MTB and determine the drug resistance (DR) based on detection of specific genetic mutations conferring resistance. The first to be endorsed by the WHO was molecular line-probe assay technology. This test uses polymerase chain reaction (PCR) and reverse-hybridization methods to rapidly identify MTB and DR-related mutations simultaneously. More recently, the WHO endorsed Xpert MTB/RIF, Cepheid Inc, CA, USA, a fully automated assay used for TB diagnosis that relies upon PCR techniques for detection of TB and rifampicin resistance-related mutations. Other promising molecular TB assays for simplifying PCR-based testing protocols and increasing their accuracy are under development and evaluation. Although we lack a practical gold standard for the diagnosis of childhood TB, its bacteriological confirmation is always recommended to be sought whenever possible prior to a diagnostic decision being made. Conventional diagnostic laboratory TB tests are less efficient for children as compared with adults, because sufficient sputum samples are more difficult to collect from infants and young children, and their disease is often paucibacillary, resulting in smear-negative disease. These inherent challenges associated with childhood TB are due to immunological- and

  12. 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.

  13. [Hysteria I. Histrionic personality disorder. A psychotherapeutic challenge].

    PubMed

    Sulz, S

    2010-07-01

    What is left of Freud's hysteria in modern diagnostics is the histrionic personality. Psychological and somatic functional disorders, such as dissociative and somatoform disorders are freed from the label of being hysterical, but even the histrionic personality disorder does not enjoy professional agreement as far as diagnostics and therapy are concerned. This disorder is characterized by dramatization, suggestibility, superficial changing affects, impressionist cognitive style, preoccupation with outward appearance, seductive behavior and the wish to take centre stage, a compensatory attitude resulting from important childhood relationships. A comorbidity with narcissistic and antisocial personality exists and also with ADHS.

  14. 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.

  15. 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.

  16. Diagnostic Challenges in the Era of Canine Leishmania infantum Vaccines.

    PubMed

    Solano-Gallego, Laia; Cardoso, Luís; Pennisi, Maria Grazia; Petersen, Christine; Bourdeau, Patrick; Oliva, Gaetano; Miró, Guadalupe; Ferrer, Lluís; Baneth, Gad

    2017-09-01

    The diagnosis of canine leishmaniosis (CanL) is complex due to its variable clinical manifestations and laboratory findings. The availability of vaccines to prevent CanL has increased the complexity of diagnosis, as serological tests may not distinguish between naturally infected and vaccinated dogs. Current practices of prevaccination screening are not sufficiently sensitive to detect subclinically infected dogs, resulting in the vaccination of infected animals, which may lead to disease in vaccinated dogs that are also infectious to sand flies. This review evaluates the current techniques for diagnosing CanL, and focuses on new challenges raised by the increasing use of vaccines against this disease. Important gaps in knowledge regarding the diagnosis of CanL are underscored to highlight the need for novel diagnostic test development. Copyright © 2017 Elsevier Ltd. All rights reserved.

  17. Arthritis, eosinophilia, and autoimmune liver disease: a diagnostic challenge.

    PubMed

    Farani, Júlia Boechat; Albuquerque, Carolina Berzoini; de Oliveira, Juliano Machado; de Assis, Emílio Augusto Campos Pereira; de Oliveira Ayres Pinto, Eduardo; de Lacerda Bonfante, Herval

    2015-03-01

    Autoimmune hepatitis (AIH) is a chronic liver disease of unknown etiology. It is composed of immune-mediated liver injury and significant immunological aspects. Arthritis can be observed in patients with AIH before recognition of the disease, which can lead to a diagnostic challenge. Although there are few reported cases in literature, peripheral blood eosinophilia might also play a part in such diagnosis. We report an intriguing case of a 41-year-old man who presented to our service with arthritis and eosinophilia as initial manifestations and was eventually diagnosed with overlap syndrome: AIH and primary sclerosing cholangitis. The present report aims to include eosinophilia among the clinical features of AIH, highlighting the possibility of its detection before the onset of either articular or hepatic disturbances.

  18. Asthma-COPD overlap syndrome (ACOS): A diagnostic challenge.

    PubMed

    Tho, Nguyen Van; Park, Hye Yun; Nakano, Yasutaka

    2016-04-01

    Asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) is characterized by persistent airflow limitation with several features usually associated with asthma and several features usually associated with COPD. ACOS may be a special phenotype of a spectrum of chronic obstructive airway diseases, in which asthma and COPD are at the two opposite ends. The prevalence of ACOS varies considerably due to differing criteria being applied for diagnosis. Patients with ACOS utilize a large proportion of medical resources. They are associated with more frequent adverse outcomes than those with asthma or COPD alone. ACOS is currently a diagnostic challenge for physicians because there are no specific biomarkers to differentiate ACOS from asthma or COPD. The approach to diagnosing ACOS depends on the population from which the patient originated. The management of ACOS should be individualized to ensure the most effective treatment with minimal side effects. In this paper, we review the diagnostic criteria of ACOS used in previous studies, propose practical approaches to diagnosing and managing ACOS and raise some research questions related to ACOS.

  19. 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

  20. 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.

  1. Forensic and diagnostic concerns arising from the proposed DSM-5 criteria for sexual paraphilic disorder.

    PubMed

    Fedoroff, J Paul

    2011-01-01

    This article reviews proposed revisions to the DSM-5 diagnostic criteria for the paraphilic disorders. It is argued that the proposed revisions will decrease the diagnostic accuracy of the diagnoses. A more effective diagnostic scheme is suggested.

  2. Ultrasonography as a diagnostic aid in bovine musculoskeletal disorders.

    PubMed

    Kofler, Johann

    2009-11-01

    In the last 15 years, ultrasonography of the bovine musculoskeletal system has become an established diagnostic method used routinely in many veterinary teaching hospitals worldwide. Ultrasonography is ideal for the evaluation of musculoskeletal disorders because they are often associated with extensive soft tissue swelling and inflammatory exudation. The goal of this article is to encourage veterinarians to use ultrasonography for the evaluation of bovine orthopedic disorders. Not only does ultrasonography improve the likelihood of a definitive diagnosis, added use of the machine helps recoup expenses.

  3. The DSM diagnostic criteria for female sexual arousal disorder.

    PubMed

    Graham, Cynthia A

    2010-04-01

    This article reviews and critiques the DSM-IV-TR diagnostic criteria for Female Sexual Arousal Disorder (FSAD). An overview of how the diagnostic criteria for FSAD have evolved over previous editions of the DSM is presented and research on prevalence and etiology of FSAD is briefly reviewed. Problems with the essential feature of the DSM-IV-TR diagnosis-"an inability to attain, or to maintain...an adequate lubrication-swelling response of sexual excitement"-are identified. The significant overlap between "arousal" and "desire" disorders is highlighted. Finally, specific recommendations for revision of the criteria for DSM-V are made, including use of a polythetic approach to the diagnosis and the addition of duration and severity criteria.

  4. [Neurodegenerative disorders: review of current classification and diagnostic neuropathological criteria].

    PubMed

    Matej, R; Rusina, R

    2012-04-01

    Neurodegenerative disorders are progressive diseases characterized by loss of specific neuronal populations followed by a clinical picture of a different neurodegenerative entity. Current classification of these diseases respects the names of the main pathophysiological processes involved in the groups of disorders. This is the reason why key proteins which represent neuropathological and biochemical hallmarks of diseases are found in their names. Neuropathological diagnosis is a synthesis of neurohistological changes in the brain and spinal cord and identification of pathological proteinaceous aggregates in neurons and/or glial cells. These inclusions are predominant diagnostic micromorphological and biochemical markers of disease. In the text, there is a brief summary of current knowledge about pathophysiology of neurodegenerations and diagnostic criteria for the most frequent entities.

  5. Diagnostic imaging for temporomandibular disorders and orofacial pain.

    PubMed

    Hunter, Allison; Kalathingal, Sajitha

    2013-07-01

    The focus of this article is diagnostic imaging used for the evaluation of temporomandibular disorders and orofacial pain patients. Imaging modalities discussed include conventional panoramic radiography, panoramic temporomandibular joint imaging mode, cone beam computed tomography, and magnetic resonance imaging. The imaging findings associated with common diseases of the temporomandibular joint are presented and indications for brain imaging are discussed. Advantages and disadvantages of each imaging modality are presented as well as illustrations of the various imaging techniques.

  6. [Transexual gender identity disorders: diagnostic and legal issues].

    PubMed

    Bosinski, H A G

    2003-05-01

    The current classification systems (ICD-10, DSM-IV), epidemiology, symptoms and diagnostic features of gender identity disorders are discussed. In the best interest of the patients, and in view of the legal situation, treatment has to follow set "standards of care". The necessity of a psychotherapeutically guided real life test, lasting at least 1 year before somatic treatment can begin, is again pointed out.

  7. Diagnostic criteria for headache attributed to temporomandibular disorders

    PubMed Central

    Schiffman, Eric; Ohrbach, Richard; List, Thomas; Anderson, Gary; Jensen, Rigmor; John, Mike T; Nixdorf, Donald; Goulet, Jean-Paul; Kang, Wenjun; Truelove, Ed; Clavel, Al; Fricton, James; Look, John

    2015-01-01

    Aims We assessed and compared the diagnostic accuracy of two sets of diagnostic criteria for headache secondary to temporomandibular disorders (TMD). Methods In 373 headache subjects with TMD, a TMD headache reference standard was defined as: self-reported temple headache, consensus diagnosis of painful TMD and replication of the temple headache using TMD-based provocation tests. Revised diagnostic criteria for Headache attributed to TMD were selected using the RPART (recursive partitioning and regression trees) procedure, and refined in half of the data set. Using the remaining half of the data, the diagnostic accuracy of the revised criteria was compared to that of the International Headache Society's International Classification of Headache Diseases (ICHD)-II criteria A to C for Headache or facial pain attributed to temporomandibular joint (TMJ) disorder. Results Relative to the TMD headache reference standard, ICHD-II criteria showed sensitivity of 84% and specificity of 33%. The revised criteria for Headache attributed to TMD had sensitivity of 89% with improved specificity of 87% (p < 0.001). These criteria are (1) temple area headache that is changed with jaw movement, function or parafunction and (2) provocation of that headache by temporalis muscle palpation or jaw movement. Conclusion Having significantly better specificity than the ICHD-II criteria A to C, the revised criteria are recommended to diagnose headache secondary to TMD. PMID:22767961

  8. 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

  9. The hypnotic diagnostic interview for hysterical disorders, pediatric form.

    PubMed

    Iglesias, Alex; Iglesias, Adam

    2009-07-01

    This article reports on the use of hypnosis to facilitate the diagnostic process in two cases of pediatric hysterical reactions. The Hypnotic Diagnostic Interview for Hysterical Disorders (HDIHD), an interview tool, specifically designed for these cases, is reported. The first case was an adolescent male with motor Conversion Disorder manifested as paralysis of his lower limbs. The second was a preadolescent girl with sensory Conversion Disorder manifested as reduction of visual field in her right eye. Freudian conceptualization of hysterical reactions was employed as the conceptual basis in the formulation of these cases. This orientation posits hysterical phenomena a psychological defense employed by individuals exposed to traumatic experiences in order to effectuate a defense from intolerable affective material. The emotionally overwhelming material converts into physical reactivity free of the traumatic consequences by keeping the intolerable images and emotions deeply repressed within the subconscious. As the focus on these cases was diagnostic, treatment efforts were avoided. As it turned out, environmental interventions, based on the obtained information from the hypnotic interviews, extinguished the symptoms. The children were symptom free at follow-up.

  10. 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.

  11. Diagnostic challenges and opportunities in older adults with infectious diseases.

    PubMed

    van Duin, David

    2012-04-01

    Infections remain a major threat to the well-being of our growing aged population. The correct and timely diagnosis of infections in older adults is increasingly important in the current age of antimicrobial resistance. Urinary tract infection, pneumonia, and bacteremia present particular challenges. In older patients with bacteremia, blood cultures have comparable yield as compared with younger patients. However, the routine triggers for ordering blood cultures may not be appropriate in older adults. In addition, resistance patterns of isolated pathogens may change with age. The main difficulties in diagnosing urinary tract infections in older adults are caused by an increased prevalence of asymptomatic bacteriuria and frequent use of urinary catheters. However, a combined noninvasive approach that includes history, physical examination, urinary dipstick testing, urine cultures, and simple blood tests can provide direction. In addition, specific guidelines for specific populations are available. In older patients suspected of bacterial pneumonia, bedside pulse oximetry and urinary antigen testing for Streptococcus pneumoniae and Legionella pneumophila provide direction for the clinician. Although infected older adults pose specific and unique diagnostic challenges, a thorough history and physical examination combined with minimally invasive testing will lead to the correct diagnosis in most older adults with infectious diseases, limiting the need for empiric antibiotics in this age group.

  12. Executive function disorders: rehabilitation challenges and strategies.

    PubMed

    Mateer, C A

    1999-01-01

    Individuals with frontal lobe impairments often demonstrate a variety of disorders of executive function that pose significant challenges to rehabilitation. Impairments in initiation, sequencing, impulse control, attention, prospective memory, and self-awareness frequently manifest in disorganized and maladaptive behaviors that severely impact many aspects of adaptive functioning. A greater awareness of the nature of these deficits, improved tools for evaluation, and an increased interest in rehabilitation have led to the development of both specific strategies and general schemas for treating and managing executive function deficits. Studies supporting the use of environmental manipulations, compensatory strategy training, and techniques to improve underlying skills, including attention and prospective memory, are described. An overarching strategy for working with individuals with impaired executive functions is proposed, based on the individual's level of awareness and context dependency. Rehabilitation is conceptualized as a set of activities, which assist the individual in moving from a more dependent, externally supported state to a more independent, internally supported and self-regulated state through the systematic shift in external to internal regulation of behavior. Successful movement along this continuum is variable across cases, but the literature suggests that significant gains in function and behavior are possible.

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

    PubMed

    McCammon, Jasmine M; Sive, Hazel

    2015-07-01

    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.

  14. Diagnostic guidelines for bipolar disorder: a summary of the International Society for Bipolar Disorders Diagnostic Guidelines Task Force Report.

    PubMed

    Ghaemi, S Nassir; Bauer, Michael; Cassidy, Frederick; Malhi, Gin S; Mitchell, Philip; Phelps, James; Vieta, Eduard; Youngstrom, Eric

    2008-02-01

    The Diagnostic Guidelines Task Force of the International Society for Bipolar Disorders (ISBD) presents in this document and this special issue a summary of the current nosological status of bipolar illness, a discussion of possible revisions to current DSM-IV and ICD-10 definitions, an examination of the relevant literature, explication of areas of consensus and dissensus, and proposed definitions that might guide clinicians in the most valid approach to diagnosis of these conditions given the current state of our knowledge.

  15. The concept of mental disorder: diagnostic implications of the harmful dysfunction analysis

    PubMed Central

    WAKEFIELD, JEROME C

    2007-01-01

    What do we mean when we say that a mental condition is a medical disorder rather than a normal form of human suffering or a problem in living? The status of psychiatry as a medical discipline depends on a persuasive answer to this question. The answers tend to range from value accounts that see disorder as a sociopolitical concept, used for social control purposes, to scientific accounts that see the concept as strictly factual. I have proposed a hybrid account, the harmful dysfunction (HD) analysis, that incorporates both value and scientific components as essential elements of the medical concept of disorder, applying to both physical and mental conditions. According to the HD analysis, a condition is a disorder if it is negatively valued ("harmful") and it is in fact due to a failure of some internal mechanism to perform a function for which it was biologically designed (i.e., naturally selected). The implications of this analysis for the validity of symptom-based diagnostic criteria and for challenges in cross-cultural use of diagnostic criteria are explored, using a comparison of the application of DSM diagnostic criteria in the U.S. and Taiwan. PMID:18188432

  16. Ethical challenges in developing drugs for psychiatric disorders.

    PubMed

    Carrier, Felix; Banayan, David; Boley, Randy; Karnik, Niranjan

    2017-03-06

    As the classification of mental disorders advances towards a disease model as promoted by the National Institute of Mental Health (NIMH) Research Domain Criteria (RDoC), there is hope that a more thorough neurobiological understanding of mental illness may allow clinicians and researchers to determine treatment efficacy with less diagnostic variability. This paradigm shift has presented a variety of ethical issues to be considered in the development of psychiatric drugs. These challenges are not limited to informed consent practices, industry funding, and placebo use. The consideration for alternative research models and quality of research design also present ethical challenges in the development of psychiatric drugs. The imperatives to create valid and sound research that justify the human time, cost, risk and use of limited resources must also be considered. Clinical innovation, and consideration for special populations are also important aspects to take into account. Based on the breadth of these ethical concerns, it is particularly important that scientific questions regarding the development of psychiatric drugs be answered collaboratively by a variety of stakeholders. As the field expands, new ethical considerations will be raised with increased focus on genetic markers, personalized medicine, patient-centered outcomes research, and tension over funding. We suggest that innovation in trial design is necessary to better reflect practices in clinical settings and that there must be an emphasized focus on expanding the transparency of consent processes, regard for suicidality, and care in working with special populations to support the goal of developing sound psychiatric drug therapies.

  17. Diagnostic challenge of glucagonoma: case report and literature review.

    PubMed

    Cruz-Bautista, Ivette; Lerman, Israel; Perez-Enriquez, Bernardo; Padilla, Lorenzo S; Torres, César L; Lopez, Antonio; Cabrera, Tatiana; Mehta, Roopa P; Gómez-Pérez, Francisco J; Rull, Juan A; Orozco-Topete, Rocio

    2006-01-01

    To report the diagnostic difficulties encountered in a case of glucagonoma. We provide a literature review and present the clinical findings, pertinent laboratory data, and results of related studies in a patient with a glucagonoma. A 54-year-old-man, with no relevant history of endocrine disorders, presented to the hospital with a 5-year history of recurrent stomatitis and glossitis, a more recent weight loss of 11.5 kg, and recurrent pruritic maculae on the scalp in conjunction with raised erythematous maculae in the scrotal region and perineum that gradually migrated to the distal extremities, becoming bullous and painful. The patient was hospitalized, and because of the dermatologic findings suggestive of necrolytic migratory erythema, the presence of a glucagonoma was suspected. His blood glucose levels were in the normal range. Glucagon levels were found to be elevated, and imaging studies confirmed the presence of an enlarged mass in the pancreatic tail, without evidence of extension to surrounding structures. Liver metastatic lesions were also excluded. After surgical removal of the tumor, the skin and oral mucosal lesions disappeared spontaneously. The histologic appearance and immunohistochemical staining results confirmed the diagnosis of a glucagonoma. Subsequently, all related symptoms resolved, and the glucagon levels normalized. The diagnosis of glucagonoma is often delayed. Clinicians should be aware of the unusual initial manifestations of this tumor and the potential for less than a full spectrum of the characteristic features of the glucagonoma syndrome.

  18. Atypical mycobacteriosis in children: a diagnostic and therapeutic challenge.

    PubMed

    Deichmueller, C M C; Emmanouil, K; Welkoborsky, H-J

    2015-09-01

    Atypical mycobacteriosis (AM) is a rare disease, which is caused by an infection with mycobacteria other than tuberculosis (MOTT). In children, the cervical lymph nodes are frequently affected. MOTT are a pathogen or facultative pathogen environmental germs, which can affect otherwise healthy individuals. The diagnostic and therapeutic management is often challenging. Currently, there are only few data published about the systematic investigation and therapy of children with AM. In a retrospective study, 29 children with AM were evaluated. The clinical records of these patients were reviewed and analyzed along with the results of histopathological and microbiological findings. The clinical parameters were correlated to patients' therapy and clinical follow-up. 29 otherwise healthy and immunocompetent children (18 girls, 11 boys, average age of 3.5 years, range 1.5-9.5 years) with AM of the head and neck region have been evaluated. Clinically, all patients were admitted with a swelling of cervical lymph nodes and discoloration of the overlaying skin. In five patients, an abscess formation of the lymph nodes occurred. Ultrasound examinations typically revealed a hypoechoic mass with central necrosis and intralesional septa. Histologically, epithelioid granuloma with caseating necrosis was described in any case. Germ identification by either microbiological culture or PCR was successful in 20 cases, with Mycobacterium avium and Mycobacterium intercellulare being the most frequent germs. In all patients, lymph nodes were surgically removed. In a clinical follow-up of at least 18 months, a recurrence occurred in five cases. Diagnosis of atypical mycobacteriosis is often difficult and challenging, since clinical appearance is unspecific and MOTT can only be identified microbiologically or by PCR in about two-thirds of cases. Therefore, a close cooperation between clinician, pathologist, and microbiologist is required. Therapeutically excision of all affected lymph nodes

  19. A potential diagnostic blood test for attention deficit hyperactivity disorder.

    PubMed

    Woodruff, Douglas B; El-Mallakh, Rif S; Thiruvengadam, Alagu P

    2011-09-01

    Diagnosis of attention deficit hyperactivity disorder (ADHD) in children, adolescents, and adults remains controversial. Dramatic growth in the diagnosis of this disorder in both young people and adults has focused criticism on the subjective nature of the diagnostic procedure. A new blood test that measures blood cell membrane potential (expressed as membrane potential ratio [MPR(™)]) has been recently developed. The current study was performed to explore the potential utility of this blood test in diagnosis of ADHD. Consecutive outpatient children (n = 89), adolescents (n = 18), and adults (n = 89) diagnosed with ADHD, or not (n = 60, 17, and 92, respectively), provided sample in which the blood test was performed. ADHD subjects were relatively depolarized with an MPR(™) of 0.804 ± 0.0381, compared to non-ADHD subjects, 0.684 ± 0.0260 (P < 0.05). The sensitivity is between 0.75 and 0.9, depending on the definition used, and the specificity is 0.75. MPR(™) appears to be a viable potential diagnostic tool for ADHD. Larger studies utilizing standardized diagnostic procedures, taking into account medications and comorbidity, and exploring variables such as age and gender are warranted.

  20. 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

  1. The Reliability and Validity of the Panic Disorder Self-Report: A New Diagnostic Screening Measure of Panic Disorder

    ERIC Educational Resources Information Center

    Newman, Michelle G.; Holmes, Marilyn; Zuellig, Andrea R.; Kachin, Kevin E.; Behar, Evelyn

    2006-01-01

    This study examined the Panic Disorder Self-Report (PDSR), a new self-report diagnostic measure of panic disorder based on the 4th edition of the Diagnostic and Statistical Manual of Mental Disorders (American Psychiatric Association, 1994). PDSR diagnoses were compared with structured interview diagnoses of individuals with generalized anxiety…

  2. The Reliability and Validity of the Panic Disorder Self-Report: A New Diagnostic Screening Measure of Panic Disorder

    ERIC Educational Resources Information Center

    Newman, Michelle G.; Holmes, Marilyn; Zuellig, Andrea R.; Kachin, Kevin E.; Behar, Evelyn

    2006-01-01

    This study examined the Panic Disorder Self-Report (PDSR), a new self-report diagnostic measure of panic disorder based on the 4th edition of the Diagnostic and Statistical Manual of Mental Disorders (American Psychiatric Association, 1994). PDSR diagnoses were compared with structured interview diagnoses of individuals with generalized anxiety…

  3. Pneumocystis pneumonia in HIV patients: a diagnostic challenge till date.

    PubMed

    Kaur, Ravinder; Wadhwa, Anupriya; Bhalla, Preena; Dhakad, Megh Singh

    2015-08-01

    HIV has become a major health problem in India, patients commonly succumb to opportunistic infections (OIs), respiratory infections being an important cause of morbidity and their accurate diagnosis is still a challenge. Our aim was to study the occurrence of Pneumocystis pneumonia (PCP) in HIV/AIDS patients with respiratory complaints attending ART clinic and to compare various diagnostic methodologies. One hundred and twenty five HIV/AIDS patients presenting with respiratory symptoms like cough, fever, breathlessness etc, were enrolled, and induced sputum samples were collected. Samples were homogenized using glass beads and Dithiothretol. Smears were prepared and examined by Immunoflourescent staining (IFAT), Gomori methanamine silver staining (GMSS), Toludine blue O staining (TBO) and Giemsa staining for Pneumocystis jiroveci. Among the 125 patients who presented with respiratory complaints, 34 cases (27.2%) were diagnosed as having PCP. All 34 cases were detected by IFAT followed by GMSS, Giemsa and Toludine blue O staining in decreasing order. The mean CD4 count was 67.27cells/μl. PCP has become an important health problem in HIV/AIDS patients with low CD4 counts in India. IFAT remains the most sensitive method for the detection of this uncultivable organism. In resource poor settings where an immunoflourecent microscope is not available, diagnosis of PCP still remains problematic.

  4. 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

  5. Strategic planning in diagnostic imaging: meeting the challenge.

    PubMed

    Lexa, Frank J

    2008-02-01

    The 21st century has raised new and significant challenges to the practice of diagnostic imaging. Radiologists will have to navigate a difficult path as they face threats from disruptive technologies, adverse demographic changes, pressures to limit reimbursement both from the public and from the private sectors, increased domestic and crossborder competition, and many others. Success in these trying times will require greater attention to strategic planning if we are to thrive and survive in radiology. Strategic planning and tactical implementation methodologies were reviewed, from Sun Tzu to the present day, for applicability to the needs of modern radiology groups. A framework for developing and implementing strategic plans was constructed to assist radiology leaders and groups in considering the spectrum of tasks, from gathering intelligence, to developing scenarios, to implementing and evaluating tactical plans. Strategy and tactics are too important to be ignored or left to others. They need to be core activities for all radiology leaders. Frameworks can be used to help in providing structure and rigour to strategic planning efforts at the department and group level.

  6. Beyond the diagnostic traits: a collaborative exploratory diagnostic process for dimensions and underpinnings of narcissistic personality disorder.

    PubMed

    Ronningstam, Elsa

    2014-10-01

    Narcissistic personality disorder has been challenging to diagnose in psychiatric and general clinical practice. Several circumstances and personality factors related to the nature of pathological narcissism and NPD contribute. NPD is usually a moderately impairing condition, often accompanied by specific capabilities and high level of functioning. Comorbidity of other urgent and recognizable psychiatric conditions, such as mood and substance use disorders or suicidality, can override even significant narcissistic personality functioning. Patients' limited ability to recognize own contribution to problems or impact on other people, their hypersensitivity and defensive reactivity, and compromised ability for self-disclosure, self-reflection, and emotional empathy can make initial evaluations difficult. The aim of this study is to integrate recent clinical and empirical knowledge on the underpinnings of pathological narcissism and narcissistic personality functioning, and distinguish narcissistic self-regulatory patterns that are affecting diagnostic traits. A more flexible, exploratory, and collaborative diagnostic process is proposed that integrates the patients subjective experiences and interpersonal functioning in terms of self-regulation, agency, and traits in a way that is informative and meaningful for both the patient and the clinician.

  7. The history of generalized anxiety disorder as a diagnostic category.

    PubMed

    Crocq, Marc-Antoine

    2017-06-01

    From the 19th century into the 20th century, the terms used to diagnose generalized anxiety included "pantophobia" and "anxiety neurosis." Such terms designated paroxysmal manifestations (panic attacks) as well as interparoxysmal phenomenology (the apprehensive mental state). Also, generalized anxiety was considered one of numerous symptoms of neurasthenia, a vaguely defined illness. Generalized anxiety disorder (GAD) appeared as a diagnostic category in the third edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-III) in 1980, when anxiety neurosis was split into GAD and panic disorder. The distinct responses these two disorders had to imipramine therapy was one reason to distinguish between the two. Since the revised DSM-III (DSM-III-R), worry about a number of life circumstances has been gradually emphasized as the distinctive symptom of GAD. Thus, a cognitive aspect of anxiety has become the core criterion of GAD. The validity of GAD as an independent category has been questioned from DSM-III up to preparation of DSM-5. Areas of concern have included the difficulty to establish clear boundaries between GAD and (i) personality dimensions, (ii) other anxiety-spectrum disorders, and (iii) nonbipolar depression. The National Institute of Mental Health has recently proposed the Research Domain Criteria (RDoC), a framework destined to facilitate biological research into the etiology of mental symptoms. Within the RDoC framework, generalized anxiety might be studied as a dimension denominated "anxious apprehension" that would typically fit into the research domain called "negative valence systems" and the more specific construct termed "potential threat."

  8. The history of generalized anxiety disorder as a diagnostic category

    PubMed Central

    Crocq, Marc-Antoine

    2017-01-01

    From the 19th century into the 20th century, the terms used to diagnose generalized anxiety included “pantophobia” and “anxiety neurosis.” Such terms designated paroxysmal manifestations (panic attacks) as well as interparoxysmal phenomenology (the apprehensive mental state). Also, generalized anxiety was considered one of numerous symptoms of neurasthenia, a vaguely defined illness. Generalized anxiety disorder (GAD) appeared as a diagnostic category in the third edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-III) in 1980, when anxiety neurosis was split into GAD and panic disorder. The distinct responses these two disorders had to imipramine therapy was one reason to distinguish between the two. Since the revised DSM-III (DSM-III-R), worry about a number of life circumstances has been gradually emphasized as the distinctive symptom of GAD. Thus, a cognitive aspect of anxiety has become the core criterion of GAD. The validity of GAD as an independent category has been questioned from DSM-III up to preparation of DSM-5. Areas of concern have included the difficulty to establish clear boundaries between GAD and (i) personality dimensions, (ii) other anxiety-spectrum disorders, and (iii) nonbipolar depression. The National Institute of Mental Health has recently proposed the Research Domain Criteria (RDoC), a framework destined to facilitate biological research into the etiology of mental symptoms. Within the RDoC framework, generalized anxiety might be studied as a dimension denominated “anxious apprehension” that would typically fit into the research domain called “negative valence systems” and the more specific construct termed “potential threat.” PMID:28867935

  9. 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.

  10. 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

  11. Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

    PubMed Central

    2014-01-01

    Desmosterolosis is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic mutations of DHCR24 (homozygous or compound heterozygous), which encodes 3-β-hydroxysterol Δ-24-reductase. We report two sisters homozygous for the 571G>A (E191K) DHCR24 mutation. Comparison of the propositae to other reported individuals shows that psychomotor developmental delay, failure to thrive, dysgenesis of the corpus callosum, cerebral white matter atrophy and spasticity likely constitute the minimal desmosterolosis phenotype. The nonspecific features of desmosterolosis make it difficult to suspect clinically and therefore screening for it should be entertained early in the diagnostic evaluation. PMID:24961299

  12. 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

  13. Antisocial personality disorder: diagnostic, ethical and treatment issues.

    PubMed

    Kaylor, L

    1999-01-01

    Antisocial personality disorder (ASPD) is a complex disorder that creates a diagnostic, ethical, and treatment dilemma for mental health professionals. Psychosocial, biological, and cultural influences play a role in the development of ASPD. People with ASPD often had harsh early childhoods that impaired their ability to trust in adulthood. Research supports intriguing biological links, but it remains unclear if biological differences are the cause or the effect of ASPD. Individualism, patriarchy, and widespread media violence create the cultural context for the development of ASPD. ASPD is difficult to clinically diagnose and treat, and there is controversy concerning whether ASPD is a psychiatric or a legal-ethical problem. However, the management of ASPD often falls to mental health services. This article addresses treatment and primary prevention of ASPD in a way that is relevant to mental health practice.

  14. [Autism spectrum disorder: Etiological, diagnostic and therapeutic aspects].

    PubMed

    Reynoso, César; Rangel, María José; Melgar, Virgilio

    2017-01-01

    Autism spectrum disorder (ASD) was described for the first time in 1943 by Leo Kanner, and since 2004, 18 490 articles in the subject have been published, which in turn have been cited 48 416 times.1 Almost half of these publications come from the United States of America and the vast maority of the efforts to improve the quality of life of these patients have taken place in developed countries. This disorder consists of an inability to acquire social and emotional skills during early development that progressively results in variable degrees of social adaptation discapacity. The etiology is multifactorial and includes functional and structural neurological abnormalities, some of them with putative genetic and/or epigenetic origin. There is an alarming lack of knowledge in the subject among health care professionals. The purpose of this systematic review is to summarize the most relevant historical, diagnostic and therapeutic aspects of ASD.

  15. The Family of Sensorimotor Gating Disorders: Comorbidities or Diagnostic Overlaps?

    PubMed Central

    GEYER, MARK A.

    2009-01-01

    Prepulse inhibition (PPI) of startle is an operational measure of the pre-attentive filtering process known as sensorimotor gating. Originally identified in patients with schizophrenia, PPI deficits have been observed in multiple but not all psychiatric disorders. Thus, as with most signs and symptoms of psychiatric disorders, deficits in PPI cut across diagnostic categories. It remains unclear whether the diversity of disorders exhibiting deficient PPI bespeaks diagnostic overlaps or comorbidities. Given the recent focus on treatments for cognitive deficits of schizophrenia independently of treating psychosis, the relationship of PPI deficits to cognitive deficits becomes of interest. Although PPI cannot be considered to be a cognitive process per se, abnormalities in pre-attentive information processing may be predictive of or lead to complex cognitive deficits. Animal models of PPI deficits produced by dopamine agonists reliably predict existing antipsychotics. Nevertheless, since neither PPI nor cognitive deficits in schizophrenia are ameliorated by standard antipsychotics, current research is exploring the predictive value of non-dopaminergic PPI models in identifying treatments for gating disturbances independently of their relevance to specific disorders. Both PPI and cognitive deficits in schizophrenia patients are not reversed by first generation antipsychotics but may be attenuated by clozapine. Similarly, effects of glutamate antagonists on symptoms in patients and PPI in animals appear to be reduced by clozapine. Hence, treatment-induced reversals of deficits in PPI produced by glutamate antagonists may provide animal, and human, models to aid in the discovery of treatments of cognitive deficits in patients already treated with existing antipsychotics. PMID:17197371

  16. Diagnostic profile and suicide risk in schizophrenia spectrum disorder.

    PubMed

    Reutfors, Johan; Bahmanyar, Shahram; Jönsson, Erik G; Ekbom, Anders; Nordström, Peter; Brandt, Lena; Ösby, Urban

    2010-11-01

    Earlier studies of patients with schizophrenia have investigated suicide risk in relation to specific psychiatric symptoms, but it remains to be better understood how suicide risk relates to the diagnostic profile in these patients. We identified all patients with a first clinical ICD-diagnosis of schizophrenia, schizophreniform or schizoaffective disorder in Stockholm County between 1984 and 2000. Patients who died by suicide within five years from diagnosis were defined as cases (n=84) and were individually matched with a similar number of living controls from the same population. Sociodemographic and clinical variables were retrieved from hospital records through a blind process. DSM-IV lifetime diagnoses for cases and controls were derived using the OPCRIT algorithm. A schizophrenia spectrum diagnosis (i.e. schizophrenia, schizophreniform or schizoaffective disorder) was assigned by OPCRIT to 50% of the suicide cases and 62% of the controls. Criteria for schizophrenia were met by 41% of the cases and 51% of the controls; for schizoaffective disorder by 8% of the cases and 10% of the controls; for other psychosis by 23% of the cases and 25% of the controls; and for mood disorder by 26% of the cases and 12% of the controls. Using the schizophrenia diagnosis as a reference, suicide risk was significantly higher in patients meeting criteria for a mood disorder diagnosis with an adjusted odds ratio of 3.3 (95% CI 1.2-9.0). In patients with a clinical schizophrenia spectrum diagnosis, a DSM-IV mood disorder diagnosis increases the suicide risk more than three-fold. Copyright © 2010 Elsevier B.V. All rights reserved.

  17. 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.

  18. Is Expressive Language Disorder an Accurate Diagnostic Category?

    PubMed Central

    Leonard, Laurence B.

    2009-01-01

    Purpose The purpose of this paper is to propose that the diagnostic category of “expressive language disorder” as distinct from a disorder of both expressive and receptive language might not be accurate. Method Evidence that casts doubt on a pure form of this disorder is reviewed from several sources, including the literature on genetic findings, theories of language impairments, and the outcomes of late talkers with expressive language delays. Areas of language that are problematic in production but not readily amenable to comprehension testing are also discussed. Conclusions The notion of “expressive language disorder” has been formalized in classification systems and is implicit if not explicit in the organization of many standardized tests. However, a close inspection of the evidence suggests that deficits in language expression are typically accompanied by limitations in language knowledge or difficulties processing language input. For this reason, the diagnostic category “expressive language disorder” should be used with considerable caution. This view has implications for both research and clinical practice. PMID:19029534

  19. Research Diagnostic criteria for Temporomandibular Disorders: current status & future relevance.

    PubMed

    Dworkin, S F

    2010-10-01

    The Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD), published in 1992, was based on international expert recommendations and available empirical data. The major rationale was to offer a putative diagnostic and classification system whose reliability, validity and clinical usefulness for TMD diagnosis and classification could be scientifically evaluated and then revised using an evidence-based model for successive iterations. The present journal issue attests to the accomplishment of that major objective: the RDC/TMD has been translated into 18 languages and used very extensively in international research. One important component of that research has been to yield reliable and valid data resulting in an evidence-based revision of the RDC/TMD now available for continuing research and clinical application. The present article offers recommendations and speculations regarding how the RDC/TMD may continue to serve the function of guiding future research and, most importantly, serve as an evidence-based diagnostic and classification system to aid in the rational choice of clinical care for TMD sufferers around the world.

  20. 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

  1. Validity aspects of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, narcissistic personality disorder construct.

    PubMed

    Karterud, Sigmund; Øien, Maria; Pedersen, Geir

    2011-01-01

    The Diagnostic and Statistical Manual of Mental Disorders (DSM), Fourth Edition, narcissistic personality disorder (NPD) construct has been criticized for being too narrowly defined, for example, by focusing on overt grandiosity at the expense of exhibitionism and narcissistic vulnerability and thus covering only parts of the domain of narcissism. The purpose of this study was to elucidate several validity aspects of the NPD construct. The material consisted of data from 2277 patients (80% of whom had a personality disorder [PD]) who were admitted to units connected to The Norwegian Network of Psychotherapeutic Day Hospitals. The Axis II diagnoses were assessed by Structured Clinical Interview for DSM, Fourth Edition, Axis II Personality Disorders. The frequency of NPD was very low (0.8%). Male patients were overrepresented both on a diagnostic level and on criteria levels. The NPD category was positively associated with other cluster B disorders and negatively associated with avoidant PD. The criteria "demands excessive admiration" and "fantasies of unlimited success" correlated almost as highly with the histrionic PD category and loaded primarily on a histrionic factor. The dominant NPD factor also included the antisocial criterion of "showing no regret having injured others." The major part of the patients' personality pathology could be attributed to other PD criteria. The results challenge the notion of NPD as a distinct diagnostic category. Rather, narcissism should be conceived as personality dimensions pertinent to the whole range of PDs. The results support the views put forward by Russ et al (Refining the construct of narcissistic personality disorder: diagnostic criteria and subtypes. Am J Psychiatry 2008;11:1473-1481) that what clinicians conceive as narcissism consists of several subtypes (dimensions). Our data support the existence of a grandiose/malignant type and an exhibitionistic type. Unfortunately, there was no measure of hypersensitivity. The

  2. Non-cirrhotic portal hypertension with large regenerative nodules: A diagnostic challenge

    PubMed Central

    Gentilucci, Umberto Vespasiani; Gallo, Paolo; Perrone, Giuseppe; Vescovo, Riccardo Del; Galati, Giovanni; Spataro, Sandro; Mazzarelli, Chiara; Pellicelli, Adriano; Afeltra, Antonella; Picardi, Antonio

    2011-01-01

    Non-cirrhotic portal hypertension is a poorly understood condition characterized by portal hypertension in the absence of conventional hepatic cirrhosis and described in association with blood coagulation disorders, myeloproliferative and immunological diseases and with exposure to toxic drugs. Very recently, precise classification criteria have been proposed in order to define four distinct subcategories. The present case highlights how the clinical presentation, the confounding results from imaging studies, and the difficulties in the histological evaluation often render cases of non-cirrhotic portal hypertension a real diagnostic challenge. It also underscores the classification problems which can be faced once this diagnosis is performed. Indeed, the different subcategories proposed result from the prevalent subtypes in a spectrum of hepatic regenerative responses to a variety of injuries determining microcirculatory disturbances. More flexibility in classification should derive from this etiopathogenic background. PMID:21633664

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

    PubMed

    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.

  4. 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

  5. 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.

  6. 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

  7. [Gender identity disorder: challenges and specificity in the treatment of requests for sexual reassignment].

    PubMed

    Pécoud, P; Pralong, F; Bauquis, O; Stiefel, F

    2011-02-16

    Gender identity disorder is defined as a permanent desire to relieve one's own sexual features to acquire the sexual features and line to life of the opposite sex. The diagnosis is based on the psychiatric evaluation and treatment on an interdisciplinary approach by endocrinologists, surgeons and psychiatrists, and can be conceptualized into distinct phases: diagnostic evaluation, real life experience, hormonal treatment and surgery. Multiples challenges have to be faced, especially by the psychiatrist who follows the patient during the whole process.

  8. 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.

  9. 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

  10. 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.

  11. 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…

  12. 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…

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

    USDA-ARS?s Scientific Manuscript database

    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...

  14. 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…

  15. 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…

  16. Perceptions of Social Challenges of Adults with Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Sperry, Laurie A.; Mesibov, Gary B.

    2005-01-01

    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…

  17. GH response to intravenous clonidine challenge correlates with history of childhood trauma in personality disorder.

    PubMed

    Lee, Royce J; Fanning, Jennifer R; Coccaro, Emil F

    2016-05-01

    Childhood trauma is a risk factor for personality disorder. We have previously shown that childhood trauma is associated with increased central corticotrophin-releasing hormone concentration in adults with personality disorder. In the brain, the release of corticotrophin-releasing hormone can be stimulated by noradrenergic neuronal activity, raising the possibility that childhood trauma may affect the hypothalamic-pituitary adrenal (HPA) axis by altering brain noradrenergic function. In this study, we sought to test the hypothesis that childhood trauma is associated with blunted growth hormone response to the α-2 adrenergic autoreceptor agonist clonidine. All subjects provided written informed consent. Twenty personality disordered and twenty healthy controls (without personality disorder or Axis I psychopathology) underwent challenge with clonidine, while plasma Growth Hormone (GH) concentration was monitored by intravenous catheter. On a different study session, subjects completed the Childhood Trauma Questionnaire and underwent diagnostic interviews. Contrary to our a priori hypothesis, childhood trauma was associated with enhanced GH response to clonidine. This positive relationship was present in the group of 40 subjects and in the subgroup 20 personality disordered subjects, but was not detected in the healthy control subjects when analyzed separately. The presence of personality disorder was unrelated to the magnitude of GH response. Childhood trauma is positively correlated with GH response to clonidine challenge in adults with personality disorder. Enhanced rather that blunted GH response differentiates childhood trauma from previously identified negative predictors of GH response, such as anxiety or mood disorder. Copyright © 2016 Elsevier Ltd. All rights reserved.

  18. Specific Challenges in Conducting and Reporting Studies on the Diagnostic Accuracy of Ultrasonography in Bovine Medicine.

    PubMed

    Buczinski, Sébastien; O'Connor, Annette M

    2016-03-01

    Ultrasonography is used by bovine practitioners more for reproductive issues than as a diagnostic test for medical and surgical diseases. This article reviews the specific challenges and standards concerning reporting of studies on diagnostic accuracy of ultrasound in cattle for nonreproductive issues. Specific biases and applicability concerns in studies reporting ultrasonography as a diagnostic test are also reviewed. Better understanding of these challenges will help the practitioner to interpret and apply (or not) diagnostic accuracy study results depending on the field context. Examples of application of sensitivity and specificity results in a clinical context are given using the Bayes theorem.

  19. Diagnostic Imaging Guidelines Implementation Study for Spinal Disorders

    PubMed Central

    Bussières, André E.; Laurencelle, Louis; Peterson, Cynthia

    2010-01-01

    Purpose: Implementation strategies of imaging guidelines can assist in reducing the number of radiographic examinations. This study aimed to compare the perceived need for diagnostic imaging before and after an educational intervention strategy. Methods: One hundred sixty Swiss chiropractors attending a conference were randomized to either receive a radiology workshop, reviewing appropriate indications for diagnostic imaging for adult spine disorders (n = 80), or be in a control group (CG). One group of 40 individuals dropped out from the CG due to logistic reasons. Participants in the intervention group were randomly assigned to three subgroups to evaluate the effect of an online reminder at midpoint. All participants underwent a pretest and a final test at 14–16 weeks. A posttest was administered to two subgroups at 8–10 weeks. Results: There was no difference between baseline scores, and overall scores for the pretest and the final tests for all four groups were not significantly different. However, the subgroup provided with access to a reminder performed significantly better than the subgroup with whom they were compared (F = 4.486; df = 1 and 30; p = .043). Guideline adherence was 50.5% (95% CI, 39.1–61.8) for the intervention group and 43.7% (95% CI, 23.7–63.6) for the CG at baseline. Adherence at follow-up was lower, but mean group differences remained insignificant. Conclusions: Online access to specific recommendations while making a clinical decision may favorably influence the intention to either order or not order imaging studies. However, a didactic presentation alone did not appear to change the perception for the need of diagnostic imaging studies. PMID:20480010

  20. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders.

    PubMed

    Wingerchuk, Dean M; 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; Weinshenker, Brian G

    2015-07-14

    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. © 2015 American Academy of Neurology.

  1. 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

  2. The Diagnostic Value of Pressure Algometry for Temporomandibular Disorders

    PubMed Central

    Więckiewicz, Włodzimierz; Woźniak, Krzysztof; Lipski, Mariusz

    2015-01-01

    The aim of this study is to determine the diagnostic value of pressure algometry in temporomandibular disorders. Two hundred volunteers aged 19.3 to 27.8 (mean 21.50, SD 0.97) participated in this study. An analogue pressure algometer was used for the evaluation of muscle tenderness of the following masticatory muscles: superficial and deep parts of the masseter muscle; anterior and posterior parts of the temporal muscle; and the tissues adjacent to the lateral and dorsal part of the temporomandibular joint capsule. Each patient described the algometry result for the individual components of the masticatory motor system, by selecting each time the intensity of pain on a 100 mm Visual Analogue Scale (VAS) ruler. The area under the receiver operating characteristic (ROC) curve, indicating the discriminatory efficiency for asymptomatic subjects and patients with temporomandibular dysfunction according to the dysfunction Di index, was the largest for the mean pain value (AUC = 0.8572; SEM = 0.0531). The 7.4 VAS cut-off point marked 95.3% specificity for this variable in identifying healthy subjects and 58.4% sensitivity in identifying patients with symptoms of dysfunctions (accuracy 68.1%). Assuming comparable sensitivity (74.9%) and specificity (74.2%) for a diagnostic test, there was test accuracy of 74.5% at the 4.2 VAS cut-off point. PMID:25883964

  3. Parent-Child Diagnostic Agreement on Anxiety Symptoms with a Structured Diagnostic Interview for Mental Disorders in Children.

    PubMed

    Popp, Lukka; Neuschwander, Murielle; Mannstadt, Sandra; In-Albon, Tina; Schneider, Silvia

    2017-01-01

    Objective: In clinical structured diagnostic interviews, diagnoses based on parent and child reports have low to moderate agreement. The aims of the present study are (1) to examine diagnostic agreement on anxiety disorders between parents and children on the levels of current and lifetime diagnostic category and diagnoses focusing in particular on diagnostic criteria and (2) to identify parent- and child-related predictors for diagnostic agreement. Method: The sample consisted of 166 parent-child dyads interviewed with the Structured Diagnostic Interview for Mental Disorders in Children (Kinder-DIPS, Schneider et al., 2009). The children (51.8% girls) were between the ages of 7 and 18 years (M = 10.94; SD = 2.22). Results: Overall, parent-child agreement on the diagnostic category of anxiety disorder (k = 0.21; k = 0.22) and the specific anxiety diagnoses (base rate > 10%) of social phobia, specific phobia and separation anxiety disorder (k = 0.24-0.52; k = 0.19-0.43) and corresponding diagnostic criteria (k = 0.22-0.67; k = 0.24-0.41) were low to moderate with the highest agreement on separation anxiety disorder (k > 0.43). Lower maternal depression, and higher social support reported by mother and father were associated with higher parent-child agreement. Maternal depression was indicated as the strongest predictor. Parental sense of competence, parental anxiety, the amount of parent-child interaction and the child's age and gender had no predictive value. Conclusions: Parent-child agreement can be expected to be higher on the level of anxiety criteria compared to specific anxiety diagnoses and diagnostic anxiety category. Psychological strains in the family-especially maternal depression and low social support-lower the parent-child agreement on anxiety symptoms. Child- and relation-related variables (age, gender, amount of time parent(s) and children interact) play no role in the prediction of low parent-child agreement.

  4. Diagnostic Experiences of Children With Attention-Deficit/Hyperactivity Disorder.

    PubMed

    Visser, Susanna N; Zablotsky, Benjamin; Holbrook, Joseph R; Danielson, Melissa L; Bitsko, Rebecca H

    2015-09-03

    This report describes the diagnostic experiences of a sample of children in the United States diagnosed with attention-deficit/hyperactivity disorder (ADHD) as of 2011–2012. Data were drawn from the 2014 National Survey of the Diagnosis and Treatment of Attention-Deficit/Hyperactivity Disorder and Tourette Syndrome, a follow-up to the 2011–2012 National Survey of Children’s Health. The median age at which children with ADHD were first diagnosed with the disorder was 7 years; one-third were diagnosed before age 6. Children with ADHD were diagnosed by a wide variety of health care providers, including primary care physicians and specialists. Regardless of age at diagnosis, the majority of children (53.1%) were first diagnosed by primary care physicians. Notable differences were found by age at diagnosis for two types of specialists. Children diagnosed before age 6 were more likely to have been diagnosed by a psychiatrist, and those diagnosed at ages 6 and over were more likely to have been diagnosed by a psychologist. Among children diagnosed with ADHD, the initial concern about a child’s behavior was most commonly expressed by a family member (64.7%), but someone from school or daycare first expressed concern for about one-third of children later diagnosed with ADHD (30.1%). For approximately one out of five children (18.1%), only family members provided information to the child’s doctor during the ADHD assessment. All material appearing in this report is in the public domain and may be reproduced or copied without permission; citation as to source, however, is appreciated.

  5. 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.

  6. Antituberculosis Drug-Induced Liver Injury with Autoimmune Features: Facing Diagnostic and Treatment Challenges

    PubMed Central

    Pinto Pais, Isabel; Duarte, Raquel; Carvalho, Isabel

    2017-01-01

    The authors present a case report of antituberculosis drug-induced liver injury that offered diagnostic challenges (namely, the possibility of drug-induced autoimmune hepatitis) and treatment difficulties. PMID:28116201

  7. Antituberculosis Drug-Induced Liver Injury with Autoimmune Features: Facing Diagnostic and Treatment Challenges.

    PubMed

    Rangel, Maria Adriana; Pinto Pais, Isabel; Duarte, Raquel; Carvalho, Isabel

    2017-01-01

    The authors present a case report of antituberculosis drug-induced liver injury that offered diagnostic challenges (namely, the possibility of drug-induced autoimmune hepatitis) and treatment difficulties.

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

    PubMed

    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.

  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. The challenges of managing coexistent disorders with phenylketonuria: 30 cases.

    PubMed

    MacDonald, A; Ahring, K; Almeida, M F; Belanger-Quintana, A; Blau, N; Burlina, A; Cleary, M; Coskum, T; Dokoupil, K; Evans, S; Feillet, F; Giżewska, M; Gokmen Ozel, H; Lotz-Havla, A S; Kamieńska, E; Maillot, F; Lammardo, A M; Muntau, A C; Puchwein-Schwepcke, A; Robert, M; Rocha, J C; Santra, S; Skeath, R; Strączek, K; Trefz, F K; van Dam, E; van Rijn, M; van Spronsen, F; Vijay, S

    2015-12-01

    The few published case reports of co-existent disease with phenylketonuria (PKU) are mainly genetic and familial conditions from consanguineous marriages. The clinical and demographic features of 30 subjects with PKU and co-existent conditions were described in this multi-centre, retrospective cohort study. Diagnostic age of PKU and co-existent condition, treatment regimen, and impact of co-existent condition on blood phenylalanine (Phe) control and PKU management were reported. 30 patients (11 males and 19 females), with PKU and a co-existent condition, current median age of 14 years (range 0.4 to 40 years) from 13 treatment centres from Europe and Turkey were described. There were 21 co-existent conditions with PKU; 9 were autoimmune; 6 gastrointestinal, 3 chromosomal abnormalities, and 3 inherited conditions. There were only 5 cases of parental consanguinity. Some patients required conflicting diet therapy (n=5), nutritional support (n=7) and 5 children had feeding problems. There was delayed diagnosis of co-existent conditions (n=3); delayed treatment of PKU (n=1) and amenorrhea associated with Grave's disease that masked a PKU pregnancy for 12 weeks. Co-existent conditions adversely affected blood Phe control in 47% (n=14) of patients. Some co-existent conditions increased the complexity of disease management and increased management burden for patients and caregivers. Occurrence of co-existent disease is not uncommon in patients with PKU and so investigation for co-existent disorders when the clinical history is not completely consistent with PKU is essential. Integrating care of a second condition with PKU management is challenging. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. Translation Challenges and Strategies: The ASL Translation of a Computer-Based, Psychiatric Diagnostic Interview

    ERIC Educational Resources Information Center

    Montoya, Louise A.; Egnatovitch, Reginald; Eckhardt, Elizabeth; Goldstein, Marjorie; Goldstein, Richard A.; Steinberg, Annie G.

    2004-01-01

    This article describes the translation goals, challenges, strategies, and solutions employed in the development of a computer-based, self administered, psychiatric diagnostic instrument, the Diagnostic Interview Schedule for the Deaf (D-DIS-IV) in American Sign Language (ASL) with English captions. The article analyzes the impact of the…

  12. PT-VWD posing diagnostic and therapeutic challenges - small case series.

    PubMed

    Sánchez-Luceros, Analía; Woods, Adriana I; Bermejo, Emilse; Shukla, Shilpa; Acharya, Suchitra; Lavin, Michelle; Rydz, Natalia; Othman, Maha

    2016-11-07

    Despite the increased worldwide awareness, over the last decade, of the platelet-type von Willebrand Disease (PT-VWD), many uncertainties remain around this rare platelet bleeding disorder. This report aims to correctly identify and study the phenotype of new patients and highlights the diagnostic and therapeutic challenges this disease remains to pose. We describe four PT-VWD cases confirmed by genetic analysis in which either the diagnosis and/or the treatment posed challenge. We provide the details of the clinical presentation, laboratory analysis, and the treatment and the responses in each case. We show that in addition to type 2B VWD, PT-VWD can be misdiagnosed as idiopathic thrombocytopenic purpura, neonatal alloimmune thrombocytopenia, and unexplained gestational thrombocytopenia. The disease can be diagnosed as early as 1 year of age and with phenotypically normal parents. Bleeding in some patients can be managed successfully using Humate P and DDAVP combined with tranexamic acid with no significant thrombocytopenia. We provide for the first time an evidence of an efficient response to rFVIIa in PT-VWD. Anaphylactic reaction to VWF preparations may be related to PT-VWD and the development of HLA antibodies is not uncommon. Progressive thrombocytopenia with normal VWF levels can be seen with PT-VWD and the platelet count was normalized at 2.5 weeks postpartum in one case. We conclude that these studies represent a record of clinical observations/interventions that help improve diagnoses/management of PT-VWD, highlight the variations in age and clinical presentations, laboratory diagnostic approaches, the importance of genetic testing for accurate diagnosis and consideration of therapeutic alternatives.

  13. The detection of nontraumatic subarachnoid hemorrhage: still a diagnostic challenge.

    PubMed

    Mark, Dustin G; Pines, Jesse M

    2006-11-01

    Nontraumatic subarachnoid hemorrhage is one of the most elusive diagnoses in emergency medicine; it is a potentially lethal disease that is often considered and rarely found. The current practice as determined by the American College of Emergency Physicians 1996 Clinical Policy on Headache is a noncontrast head computed tomography (CT) followed by diagnostic lumbar puncture (LP) to exclude subarachnoid hemorrhage. Whereas the guideline does not consider pretest probability of subarachnoid hemorrhage in determining which patients require LP after negative head CT, patients' acceptance of LP, technical aspects of performing a LP in patients with nonideal anatomy, and risks associated with LP must all be considered when choosing to proceed with invasive testing. This article outlines the use of current testing modalities including CT, magnetic resonance imaging, angiography and LP to provide an up-to-date understanding of diagnostic testing for subarachnoid hemorrhage.

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

    PubMed

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

    2016-05-01

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

  15. 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.

  16. 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.

  17. Diagnostic challenges in cervical tuberculous lymphadenitis: A review

    PubMed Central

    Deveci, Hande Senem; Kule, Mustafa; Kule, Zeynep Altin; Habesoglu, Tulay Erden

    2016-01-01

    Tuberculosis is a very serious disease and incidence is once again on the rise. Lymph node tuberculosis is one of the most common extrapulmonary manifestations of tuberculosis. In differential diagnosis of chronic, painless cervical lymphadenopathy, cervical tuberculous lymphadenitis should be kept in mind. A high index of suspicion is needed for diagnosis of tuberculous lymphadenitis, which is known to mimic a number of pathological conditions. This article reviews epidemiology, clinical manifestations, and diagnostic techniques for cervical tuberculous lymphadenitis. PMID:28058405

  18. 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…

  19. 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…

  20. Diagnostic Precursors to Bipolar Disorder among Offspring of Parents with Bipolar Disorder: A Longitudinal Study

    PubMed Central

    Axelson, David; Goldstein, Benjamin; Goldstein, Tina; Monk, Kelly; Yu, Haifeng; Hickey, Mary Beth; Sakolsky, Dara; Diler, Rasim; Hafeman, Danella; Merranko, John; Iyengar, Satish; Brent, David; Kupfer, David; Birmaher, Boris

    2015-01-01

    Objective Identify diagnostic risk factors of mania/hypomania in the offspring of parents with bipolar disorder (“high-risk offspring”). Method High-risk offspring aged 6-18 years (n=391) and demographically-matched offspring (n=248) of community parents without bipolar disorder were assessed longitudinally with standardized diagnostic instruments by staff blind to parental diagnoses. Follow-up assessments were completed in 91% of the offspring (mean interval 2.5 years; mean duration 6.8 years). Results High-risk offspring, as compared to community offspring, had significantly higher rates of subthreshold (hypo)manic (13.3% vs. 1.2%, p<.0001), manic/hypomanic (9.2% vs. 0.8%, p=.0003) and major depressive episodes (32.0% vs. 14.9%, p<.0001). They also had higher rates of attention-deficit hyperactivity (30.7% vs. 18.2%, p=.01), disruptive behavior (27.4% vs. 15.3%, p=.03), anxiety (39.9% vs. 21.8%, p=.0002), and substance use disorders (20.0% vs. 10.1%, p=.008), but not unipolar major depressive disorder (major depression with no bipolarity; 18.9% vs. 13.7%; p=.10). Multivariate Cox regressions in the high-risk offspring showed that subthreshold (hypo)manic episodes (Hazard Ratio 2.29, p=.03), major depressive episodes (Hazard Ratio 1.99, p=.05), and disruptive behavior disorders (Hazard Ratio 2.12, p=.03) were associated with subsequent mania/hypomania. Only subthreshold (hypo)manic episodes (Hazard Ratio 7.57, p<.0001) were associated when analyses were restricted to prospective data. Conclusions Subthreshold (hypo)manic episodes were a diagnostic risk factor for the development of mania/hypomania in the offspring of parents with bipolar disorder, and should be a target for clinical assessment and future treatment research. Major depressive episodes and disruptive behavior disorders are also indications for close clinical monitoring of emergent bipolarity in high-risk offspring. PMID:25734353

  1. 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…

  2. 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…

  3. 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

  4. Posttraumatic stress disorder: diagnostic data analysis by data mining methodology.

    PubMed

    Marinić, Igor; Supek, Fran; Kovacić, Zrnka; Rukavina, Lea; Jendricko, Tihana; Kozarić-Kovacić, Dragica

    2007-04-01

    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. 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 CAPS scale and additional 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. 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 structured psychiatric interview, were the current symptoms and conditions such as presence and degree of

  5. Co-inheritance of mild hemophilia A and heterozygosity for type 2N von Willebrand disease: a diagnostic and therapeutic challenge.

    PubMed

    Lindsay, Holly; Bergstrom, Katie; Srivaths, Lakshmi

    2014-10-01

    Hemophilia A and von Willebrand disease are the two most common inherited bleeding disorders. Despite their frequency, however, there are very few reports of co-inheritance of the two disorders. We present the first report of a patient with mild hemophilia A and heterozygosity for type 2N von Willebrand disease (VWD). We discuss the patient's phenotype and highlight the diagnostic and therapeutic challenges caused by this co-inheritance.

  6. 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.

  7. Stem Cell Therapy for Neonatal Disorders: Prospects and Challenges

    PubMed Central

    Chang, Yun Sil; Ahn, So Yoon; Sung, Sein

    2017-01-01

    Despite recent advances in neonatal medicine, neonatal disorders, such as bronchopulmonary dysplasia and intraventricular hemorrhage in preterm neonates and hypoxic ischemic encephalopathy in term neonates, remain major causes of mortality and morbidities. Promising preclinical research results suggest that stem cell therapies represent the next breakthrough in the treatment of currently intractable and devastating neonatal disorders with complex multifactorial etiologies. This review focuses primarily on the potential role of stem cell therapy in the above mentioned neonatal disorders, highlighting the results of human clinical trials and the challenges that remain to be addressed for their safe and successful translation into clinical care of newborn infants. PMID:28120555

  8. Newcastle disease: evolution of genotypes and the related diagnostic challenges.

    PubMed

    Miller, Patti J; Decanini, Eduardo Lucio; Afonso, Claudio L

    2010-01-01

    Since the discovery of Newcastle disease virus (NDV) in 1926, nine genotypes of class I viruses and ten of class II have been identified, representing a diverse and continually evolving group of viruses. The emergence of new virulent genotypes from global epizootics and the year-to-year changes observed in the genomic sequence of NDV of low and high virulence implies that distinct genotypes of NDV are simultaneously evolving at different geographic locations across the globe. This vast genomic diversity may be favored by the large variety of avian species susceptible to NDV infection and by the availability of highly mobile wild bird reservoirs. The genomic diversity of NDV increases the possibility of diagnostic failures, resulting in unidentified infections. Constant epidemiological surveillance and pro-active characterization of circulating strains are needed to ensure that the immunological and PCR reagents are effective in identifying NDV circulating worldwide. For example, in the United States, the widely used real-time reverse transcription polymerase chain reaction (RRT-PCR) matrix gene assay for the identification of NDV often fails to detect low virulence APMV-1 from waterfowl, while the RRT-PCR fusion gene assay, used to identify virulent isolates, often fails to detect certain virulent NDV genotypes. A new matrix-polymerase multiplex test that detects most of the viruses currently circulating worldwide and a modified fusion test for the identification of virulent pigeon viruses circulating in the U.S. and Europe have recently been developed. For newly isolated viruses with unknown sequences, recently developed random priming sequencing methods need to be incorporated into the diagnostic arsenal. In addition, the current system of classifying NDV into genotypes or lineages is inadequate. Here, we review the molecular epidemiology and recent diagnostic problems related to viral evolution of NDV and explain why a new system, based on objective criteria, is

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

    PubMed Central

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

    2015-01-01

    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 multi-method assessment of ADHD and ODD symptoms and were followed annually for 3 years. Fifty-eight percent of 3-year-old children with behavior problems met criteria for ADHD and/or ODD/CD 3 years later. Using a diagnostic interview and rating scales at age 3, later diagnostic status could be accurately predicted for three-quarters of children for ADHD and for two-thirds of children for ODD/CD. Predictive power of the best models did not increase significantly at age 4 and age 5 compared to age 3. Results provide support for the validity of early diagnoses of ADHD, though caution is needed in making diagnoses because a significant minority of children with early hyperactivity and inattention do outgrow their problems. PMID:19309194

  10. 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.

  11. [Females with Fabry's disease - an interdisciplinary diagnostic and therapeutic challenge].

    PubMed

    Weidemann, Frank; Niemann, Markus; Sommer, Claudia; Beer, Meinrad; Breunig, Frank; Wanner, Christoph

    2010-09-01

    Fabry's disease is a rare genetic storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Being X-chromosomal-linked, most studies in the past focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and, thus, have to be treated respectively. This synopsis wants to systematically review the typical organ involvement in female Fabry patients. Moreover, therapy recommendations especially for female patients are discussed.

  12. Double aorta artifact in sonography – a diagnostic challenge

    PubMed Central

    Bombiński, Przemysław; Brzewski, Michał

    2017-01-01

    The double aorta artifact was described and studied thoroughly twenty-five years ago. Despite this, it is still not commonly known today and can cause diagnostic difficulty. Total aortic duplication can be considered an anatomic defect whilst partial duplication mimics aortic dissection. In the literature, this artifact has been compared with a very rare anomaly, i.e. the occurrence of two aortas in one patient. Currently, however, the differentiation of this artifact from abdominal aortic dissection seems to be of greater significance. The double aorta image occurs when ultrasound waves encounter prismatic fat tissue of the anterior abdominal wall. This artifact is more frequently observed in children and athletic young adults since the structure of this anatomic region in these individuals is conductive to the occurrence of this phenomenon. Moreover, it can be observed more often when curved transducers are used. Due to all these factors, an ultrasound beam undergoes greater refraction and make the artifact clearer. This phenomenon is usually easily recognizable and avoidable, but it sometimes might cause diagnostic difficulty. Obtaining an image of double abdominal vessels on ultrasound examination in transverse sections requires further inspection of the aorta in a different (sagittal) plane. This is not always possible due to poor patient preparation for scanning. Symmetrical flow on Doppler sonography is a typical feature of this artifact. Finally, magnetic resonance imaging or computed tomography can be considered to rule out a pathology. PMID:28439427

  13. Rare cystic liver lesions: A diagnostic and managing challenge

    PubMed Central

    Bakoyiannis, Andreas; Delis, Spiros; Triantopoulou, Charina; Dervenis, Christos

    2013-01-01

    Cystic formations within the liver are a frequent finding among populations. Besides the common cystic lesions, like simple liver cysts, rare cystic liver lesions like cystadenocarcinoma should also be considered in the differential diagnosis. Thorough knowledge of each entity’s nature and course are key elements to successful treatment. Detailed search in PubMed, Cochrane Database, and international published literature regarding rare cystic liver lesions was carried out. In our research are included not only primary rare lesions like cystadenoma, hydatid cyst, and polycystic liver disease, but also secondary ones like metastasis from gastrointestinal stromal tumors lesions. Up-to date knowledge regarding diagnosis and management of rare cystic liver lesions is provided. A diagnostic and therapeutic algorithm is also proposed. The need for a multidisciplinary approach by a team including radiologists and surgeons familiar with liver cystic entities, diagnostic tools, and treatment modalities is stressed. Patients with cystic liver lesions must be carefully evaluated by a multidisciplinary team, in order to receive the most appropriate treatment, since many cystic liver lesions have a malignant potential and evolution. PMID:24282350

  14. A prospective study of diagnostic conversion of major depressive disorder to bipolar disorder in pregnancy and postpartum.

    PubMed

    Sharma, Verinder; Xie, Bin; Campbell, M Karen; Penava, Debbie; Hampson, Elizabeth; Mazmanian, Dwight; Pope, Carley J

    2014-02-01

    The aim of the present study was to determine the rate of, and risk factors for, a change in diagnosis from major depressive disorder to bipolar disorder, and from bipolar II disorder to bipolar I disorder in pregnancy and postpartum. Patients with a prior history of major depressive disorder or bipolar II disorder were recruited between 24 and 28 weeks' gestation and followed through to one year postpartum. Diagnostic interviews were conducted using the Structured Clinical Interview for DSM-IV at study intake and repeated using the Mini-International Psychiatric Interview at one, three, six, and 12 months after childbirth. Fisher's exact test was used to assess the association between various risk factors and diagnostic switch. A total of 146 participants completed the intake interview and at least one follow-up interview postpartum. Of these, 92 were diagnosed with major depressive disorder and 54 with bipolar II disorder at intake. Six women (6.52%) experienced a diagnostic change from major depressive disorder to bipolar II disorder during the first six months after childbirth. There were no cases of switching to bipolar I disorder, but in one participant the diagnosis changed from bipolar II disorder to bipolar I disorder during the three months after childbirth. Bipolar switch was associated with a family history of bipolar disorder. The postpartum period appears to be a time of high risk for a new onset of hypomania in women with major depressive disorder. Our rate of diagnostic switching to bipolar II disorder (6.52%) is at least 11- to 18-fold higher than the rates of switching in similar studies conducted in both men and women. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Pregnancy and pituitary disorders: Challenges in diagnosis and management

    PubMed Central

    Laway, Bashir A.; Mir, Shahnaz A.

    2013-01-01

    Pregnancy is associated with normal physiological changes in endocrine system that assists fetal survival as well as preparation of labor. The pituitary gland is one of the most affected organs in which major changes in anatomy and physiology take place. Due to overlapping clinical and biochemical features of pregnancy, sometimes the diagnosis of pituitary disorders may be challenging. It is important to know what normal parameters of changes occur in endocrine system in order to diagnose and manage complex endocrine problems in pregnancy. In our present review, we will focus on pituitary disorders that occur exclusively during pregnancy like Sheehan's syndrome and lymphocytic hypophysitis and pre-existing pituitary disorders (like prolactinoma, Cushing's disease and acromegaly), which poses significant challenge to endocrinologists. PMID:24381874

  16. Awareness of identity alteration and diagnostic preference between borderline personality disorder and dissociative disorders.

    PubMed

    Sar, Vedat; Alioğlu, Firdevs; Akyuz, Gamze; Tayakısı, Emre; Öğülmüş, Ezgi F; Sönmez, Doğuş

    2017-01-01

    This study inquires into identity alteration among college students and its relationship to borderline personality disorder (BPD) and/or dissociative disorders (DDs). Steinberg Identity Alteration Questionnaire (SIAQ), Childhood Trauma Questionnaire (CTQ), and self-report screening tool of the BPD section of the Structured Clinical Interview for DSM-IV (SCID-BPD) were administered to 1301 college students. Participants who fit the diagnostic criteria of BPD (n = 80) according to the clinician-administered SCID-BPD and 111 non-BPD controls were evaluated using the Structured Clinical Interview for DSM-IV DDs (SCID-D) by two psychiatrists blind to the group membership and scale scores. Test-retest evaluations and internal consistency analyses suggested that SIAQ was a reliable instrument. Of the participants, 11.3% reported a SIAQ score 25 or above alongside some impairment. SIAQ scores differentiated participants who fit the diagnostic criteria for a DD from those who did not. While self-report identity alteration was correlated with all childhood trauma types, clinician-assessed identity alteration was correlated with childhood sexual abuse only. Those who fit criteria for both disorders had the highest identity alteration scores in self-report and clinician-assessment. Although both syndromes had significant effect on self-report identity alteration total scores, in contrast to DD, BPD did not have an effect on the clinician-administered evaluation. An impression of personality disorder rather than a DD may seem more likely when identity alteration remains subtle in clinical assessment, notwithstanding its presence in self-report. Lack of recognition of identity alteration may lead to overdiagnosis of BPD among individuals who have a DD.

  17. 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

    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

  18. 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)

  19. Agreement between Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, and the proposed DSM-V attention deficit hyperactivity disorder diagnostic criteria: an exploratory study.

    PubMed

    Ghanizadeh, Ahmad

    2013-01-01

    There is no empirical literature about the American Psychiatry Association proposed new diagnostic criteria for attention deficit hyperactivity disorder (ADHD). This study examined the agreement between ADHD diagnosis derived from Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), and DSM-V diagnostic criteria. It also reports sensitivity, specificity, and agreement for ADHD diagnosis. A clinical sample of 246 children and adolescents were interviewed face to face using both ADHD diagnostic criteria for DSM-V and DSM-IV by interviewing clinician. Comorbid psychiatric disorders were screened using DSM-IV criteria. The rate of ADHD diagnosis using DSM-V was significantly higher than the rate detected by using DSM-IV diagnostic criteria. The sensitivity of DSM-V diagnostic criteria was 100%, while its specificity was 71.1%. The kappa agreement between DSM-IV and DSM-V was 0.75. In addition, positive predictive value was 85.1%. All the four newly added symptoms to ADHD diagnostic criteria are statistically more common in the children with ADHD than those in the comparison group. However, these symptoms are also very common in the children without ADHD. It is expected that the rate of ADHD would increase using the proposed ADHD DSM-V criteria. Moreover, the newly added symptoms have a low specificity for ADHD diagnosis. Copyright © 2013 Elsevier Inc. All rights reserved.

  20. [Depression in the course of bipolar disorder and recurrent depressive disorder in the elderly: diagnostic difficulties].

    PubMed

    Sobów, Tomasz; Kisiela, Elzbieta; Luczak, Olga; Kłoszewska, Iwona

    2005-01-01

    Misdiagnosis of bipolar disorder in depressive patients is a common clinical problem estimated to be evident in up to 40% of patients. Elderly patients might be especially vulnerable to that sort of diagnostic error. To estimate the rate of misdiagnosis in the elderly (60yrs+) hospitalized due to depression and to establish clinical correlates that might improve diagnosis. A retrospective analysis of medical records of all the patients hospitalized in the University based Psychogeriatric Ward and suffering from a depressive episode due to bipolar disorder or recurrent depressive disorder. The rate of misdiagnosis was 54% in bipolar and 9% in recurrent depressive disorder. Bipolar patients were mainly misdiagnosed as having recurrent depression. A severe episode was more common in bipolar subjects (particularly in women) while recurrent depressive subjects tend to suffer from less severe but more protracted episodes. Somatic symptoms of depression were more prevalent among recurrent depressive subjects while psychotic features, particularly delusions, and, to the lesser extent, hallucinations, were more common in patients suffering from bipolar depression. Bipolar depression is very often misdiagnosed in the hospitalized elderly. There are several features that might help the clinician to distinguish it from recurrent depression. Long history of illness, high number of previous episodes, severe episodes and the presence of psychotic symptoms are typical for bipolar elderly while a protracted current episode and the presence of somatic symptoms of depression might indicate the diagnosis of recurrent depression.

  1. Septic Arthritis Due to Staphylococcus Warneri: A Diagnostic Challenge

    PubMed Central

    Legius, Barbara; Landuyt, Kristel Van; Verschueren, Patrick; Westhovens, Rene

    2012-01-01

    A septic arthritis due to an indolent infection is a challenge for timely diagnosis. In recent years septic arthritides due to Staphylococcus Warneri are increasingly reported, mostly as a complication in patients with prosthetic devices. We report on a case of a 38 year old immunocompetent male with an indolent infection with this commensal of the skin after a stay at an intensive care unit and review the available literature. Tissue cultures obtained by arthroscopy might be helpful in obtaining a correct diagnosis. PMID:23166572

  2. 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. © The Author(s) 2014.

  3. Epidemiologic, Clinicopathologic, Diagnostic, and Management Challenges of Pityriasis Rubra Pilaris: A Case Series of 100 Patients.

    PubMed

    Ross, Nicholas A; Chung, Hye-Jin; Li, Qiaoli; Andrews, Jonathan P; Keller, Matthew S; Uitto, Jouni

    2016-06-01

    Pityriasis rubra pilaris (PRP) is a rare papulosquamous disorder with limited epidemiologic and clinicopathologic data. Little information is available on long-term outcomes, comorbidities, and treatment efficacy. To evaluate objective and subjective disease experience metrics from the perspectives of patients and clinicians. One hundred patients with a putative diagnosis of PRP and who elected to participate completed a comprehensive survey, followed by acquisition of their medical records, including histopathology slides and reports. The data were analyzed separately from the health care clinician and the patient perspectives. Two academic dermatologists examined clinical notes, pathology reports, and photographs, confirming diagnoses via predetermined criteria. Patients were categorized into 4 levels of diagnostic certainty to allow stratification of the findings for subgroup analysis. Patients with a diagnosis of PRP were solicited through patient support organization websites. Clinical outcomes, unexpected association of comorbidities, and efficacy (or lack of it) of various treatment modalities. Among the 100 patients, 50 were diagnosed as having classic, unquestionable PRP. The patients were a median of 61 years old (range, 5-87 years), and 46% were female. Fifty were categorized as level 1 diagnostic certainty, 15 as level 2, 30 as level 3, and 5 as level 4. Of the level 1 patients, 13 (26%) were correctly diagnosed at initial presentation; diagnosis was delayed, on average, by 29 months (range, 0.25-288 months; median, 2 months); and 27 (54%) having undergone 2 or more biopsies. At enrollment, PRP symptoms had persisted in 36 patients (72%) for an average of 58 months (range, 1-300 months; median, 30 months). Thirty-one patients (62%) had comorbidities, including hypothyroidism (20%). Nearly all patients (98%) received some form of therapy. Patients cited topical emollients, corticosteroids, and salicylic acid along with oral retinoids, methotrexate, and

  4. Bilateral masseter and internal pterygoid muscle hypertrophy: a diagnostic challenge.

    PubMed

    Andreadis, Dimitrios; Stylianou, Florentia; Link-Tsatsouli, Iris; Markopoulos, Anastasios

    2014-01-01

    To describe an unusual case of bilateral masseter and pterygoid muscle hypertrophy. A 53-year-old female patient presented with a bilateral, painless swelling at the parotid areas without improvement after using antibiotics/systemic corticosteroids/nonsteroidal anti-inflammatory agents. Her medical history included thyroid nodules, but no dental/occlusal disorders were observed. The initial differential diagnosis included salivary gland/jaw bone/masseter pathology, but the CT/MRI revealed only an increase in the size of the masseter and pterygoid muscles. The patient was informed of the benign nature of the swelling and was advised to discontinue the use of nonsteroidal anti-inflammatory agents. The bilateral hypertrophy of masseter muscles should be considered in differential diagnosis in cases of unilateral or bilateral swelling of the parotid or lateral mandible area. © 2013 S. Karger AG, Basel.

  5. Challenges in plasma and laser wakefield accelerated beams diagnostic

    NASA Astrophysics Data System (ADS)

    Cianchi, A.; Anania, M. P.; Bellaveglia, M.; Castellano, M.; Chiadroni, E.; Ferrario, M.; Gatti, G.; Marchetti, B.; Mostacci, A.; Pompili, R.; Ronsivalle, C.; Rossi, A. R.; Serafini, L.

    2013-08-01

    The new frontier in the particle beam accelerator is the so called plasma acceleration. Using the strong electric field inside a plasma it is possible to achieve accelerating gradients in the order of magnitude larger with respect to the actual technologies. Different schemes have been proposed and several already tested, producing beams of energy of several GeV. Mainly two approaches are followed: either the beam is directly produced by the interaction of a TW/PW class laser with a gas jet or a preexisting particle beam is accelerated in a plasma channel. In both cases a precise determination of the emerging beam parameters is mandatory for the fine tuning of the devices. The measurement of these parameters, in particular the emittance, is not trivial, mainly due to the large energy spread and to the tight focusing of these beams or to the background noise produced in the plasma channel. We show the problems related to the diagnostic of this kind of beams and the proposed or already realized solutions.

  6. Diagnostic challenges of kidney diseases in HIV-infected patients.

    PubMed

    Chazot, Robin; Botelho-Nevers, Elisabeth; Frésard, Anne; Maillard, Nicolas; Mariat, Christophe; Lucht, Frédéric; Gagneux-Brunon, Amandine

    2017-10-01

    Chronic kidney disease (CKD) is a prevalent comorbidity in persons living with HIV infection (PLWH) associated with an increase in cardiovascular morbidity and all-cause mortality. Furthermore, early diagnosis of CKD is difficult in PLWH. Areas covered: We reviewed the main diagnostic tools for CKD in PLWH, and discussed their strengths and limits. We performed a literature search on PubMed to identify reviews and clinical trials dealing with attractive kidney biomarkers of CKD in PLWH, with the following key words: 'HIV AND kidney', 'HIV AND Kidney biomarkers', 'CKD AND Kidney biomarkers'. Expert commentary: Currently, CKD diagnosis is based on the estimation of Glomerular Filtration Rate (GFR), and measurement of proteinuria by urine protein/creatinine ratio (uPCR). These parameters are independent and complementary predictors of outcomes. GFR estimates are lacking in accuracy in PLWH. The best GFR estimate is CKD-EPI study equation. Moreover, low-grade proteinuria is associated with an increased risk of kidney disease progression in PLWH, and guidelines derived from the general population may lack sensitivity. Different biomarkers of kidney diseases like N-acetyl beta glucosaminidase (NAG), Kidney Injury Molecule-1 (KIM-1), and Alpha-1-microglobulin may predict kidney disease progression and mortality in PLWH. Others may help clinicians detect antiretroviral-induced tubulopathy, or predict cardiovascular events. More studies are needed to validate the routine use of these types of biomarkers.

  7. Acral Lentiginous Melanoma in Situ: A Diagnostic and Management Challenge

    PubMed Central

    Park, Hyun Sun; Cho, Kwang Hyun

    2010-01-01

    Early stage recognition of acral lentiginous melanoma (ALM) is important for a better prognosis, but in-depth understanding and proper management of ALM in situ is complicated, because there are only a few reports, probably due to its rarity and diagnostic difficulty. We have reviewed our experience with seven patients who were diagnosed as having ALM in situ and discuss how to accurately diagnose and properly manage these rare lesions. Clinically the lesions showed black to brown discoloration of the nail with Hutchinson’s sign and hyperpigmented macules on the heel with color variegation. All the lesions showed a diffuse lentiginous pattern of melanocytic proliferation with variable level of atypism along the dermoepidermal junction. Dermoscopic findings were available in three and revealed parallel ridge patterns. Confrontation of clinical and histopathologic findings was observed in three, and the lesions were not recognized or diagnosed as ALM in situ in the first place. Excision of the primary lesion with variable operative margin was done as an initial treatment. Recurrence was observed in three patients and one developed invasive ALM and lymph node metastasis. Integration of all available information concerning the clinical presentation, histopathology, and dermoscopic findings is very important and can lead to the best classification for correct diagnosis. Lack of knowledge upon clinical course and optimal margin to control ALM in situ provokes the need for further studies with longer follow up and larger number of cases. PMID:24281086

  8. 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

  9. Diagnostic Utility of Auto Antibodies in Inflammatory Nerve Disorders.

    PubMed

    Emilien, Delmont; Hugh, Willison

    2015-06-04

    A wide range of autoantibodies have been described in immune-mediated nerve disorders that target glycans borne by glycolipids and glycoproteins enriched in the peripheral nerves. Their use as diagnostic biomarkers is very widespread, despite some limitations on sensitivity and specificity, and the lack of standardized assays and access to quality assurance schemes. Although many methods have been applied to measurement, ELISA, in the form of commercial kits or in-house assays, still remains the most widely available and convenient assay methodology.Some antibodies have a particularly robust and widely appreciated clinical significance. Thus, the anti-MAG IgM antibodies that are found in IgM paraprotein related neuropathies define a relatively uniform clinical and prognostic phenotype. IgG antibodies against gangliosides GM1 and GD1a are strongly associated with motor axonal variants of Guillain-Barré syndrome, and anti-GQ1b with Miller Fisher syndrome. In other chronic neuropathies, antibodies against disialylated gangliosides including GD1b and GD3 are detected in ataxic neuropathies, usually associated with an IgM paraprotein, and antibodies against GM1 and the complex GM1:GalC are frequently found in multifocal motor neuropathy. Unfortunately, autoantibodies strongly associated with the diagnosis of chronic inflammatory demyelinating polyneuropathies and with demyelinating forms of GBS are still lacking.Identification of autoantibodies that map onto a specific clinical phenotype not only allows for improved classification, but also provides better understanding of the pathophysiology of inflammatory neuropathies and the potential for therapeutic interventions.

  10. 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.

  11. [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.

  12. [Pigmented Villonodular Synovitis: a diagnostic challenge. Review of 28 cases].

    PubMed

    Coutinho, M; Laranjo, A; Casanova, J

    2012-01-01

    Pigmented Villonodular Synovitis (PVNS) is a benign and uncommon clinical entity, characterized by excessive proliferation of synovial membrane of joints, tendon sheaths and bursas. The objective of this study was to evaluate demographic and clinical parameters, diagnostic and treatment procedures and the outcome of 28 patients with PVNS. Retrospective study of the histologically proven cases of PVNS, diagnosed between January 1998 and April 2010 in the Orthopaedics Department of Coimbra University Hospital. Clinical data were reviewed for each patient and the following parameters were evaluated: gender, age at diagnosis, initial clinical symptoms and site of onset, symptom duration, main imaging findings (x-ray and magnetic resonance imaging of the involved structure), histological features of the lesion, treatment, follow-up duration, evidence of recurrence and time between surgery and recurrence. A total of 28 patients with histologically proven PVNS were included. The majority of patients were female (53.6%) and the mean age at the time of diagnosis was 39.2 ± 19.1 years (mean ± SD). The time between onset of symptoms and diagnosis was un- known in one patient and, in the other 27 patients, mean delay in diagnosis was 24.4 ± 20.5 months (mean ± SD). The knee was the most frequently affected site (75% of the cases). Pain and progressive local swelling sensation were the most frequent symptoms at onset (in 82.1% and 71.4% of the cases, respectively). Joint x-ray identified abnormalities in only 17.8% of the patients. Magnetic resonance imaging (MRI) of the affected structure identified the presence of synovial membrane proliferation in all cases and extra-articular extension of the lesion and bone erosions in 39.1% and 34.8%, respectively. Diagnosis was histologically proven in all cases (27 with synovial joint origin and 1 with tenosynovial origin). Subtotal synovectomy, total synovectomy, local excision of the lesion, synovectomy associated with

  13. 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.

  14. Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable condition.

    PubMed

    Ardissone, A; Sansone, V; Colleoni, L; Bernasconi, P; Moroni, I

    2017-03-01

    Andersen-Tawil syndrome (ATS) is a rare autosomal dominant channelopathy characterized by periodic paralysis, cardiac dysrhythmias, and distinct facial and skeletal characteristics, that may be variably present in the affected members. Mutations in the KCNJ2 and KCNJ5 gene have been associated with this disorder. We describe a family in which several members presented with different ATS phenotypes. The proband, a 4-year-old boy, presented with recurrent episodes of muscle weakness from an early age; two siblings suffered cardiac arrhythmia but had never experienced episodes of paralysis; their mother reported occasional muscle pain after exercise and unspecified cardiac arrhythmias. The analysis of KCNJ2 gene in the proband disclosed the presence of a pathogenic mutation (p.R218W), that was subsequently confirmed in the other affected subjects. Our results underline the possible intrafamilial phenotypic variability, ranging from full clinical triad to exclusive cardiac or muscular involvement, representing a diagnostic challenge that may also delay adequate management. There are still limited data on the treatment of ATS; in our patient there was clinical improvement with dichlorphenamide.

  15. From nocturnal frontal lobe epilepsy to Sleep-Related Hypermotor Epilepsy: A 35-year diagnostic challenge.

    PubMed

    Tinuper, Paolo; Bisulli, Francesca

    2017-01-01

    Nocturnal frontal lobe epilepsy (NFLE) is a focal epilepsy with seizures arising mainly during sleep and characterized by complex, often bizarre, motor behavior or sustained dystonic posturing. First described in 1981, it was initially considered a motor disorder of sleep and was named nocturnal paroxysmal dystonia (NPD). The unusual seizure semiology, onset during sleep, and often uninformative scalp EEG and brain MRI make it difficult to distinguish NPD attacks from other non-epileptic nocturnal paroxysmal events, namely parasomnias. The long-debated epileptic origin of the condition was finally demonstrated in 1990 and the term NFLE introduced. Even though many aspects of parasomnias and NFLE have been clarified in the last two decades, the differential diagnosis remains a challenge for clinicians. To address controversial issues and define the diagnostic criteria for NFLE, a Consensus Conference was held in Bologna, Italy in 2014. Major points of agreement emerged on: (i) the relationship of the seizures with sleep and not with the circadian pattern of seizure occurrence; (ii) the possible extrafrontal origin of hypermotor seizures, without substantial differences in seizure semiology. In the wake of the Consensus, the syndrome was renamed Sleep-Related Hypermotor Epilepsy (SHE). Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  16. Recurrent arthritis by Candida glabrata, a diagnostic and therapeutic challenge.

    PubMed

    Erami, Mahzad; Afzali, Hasan; Heravi, Mansoureh Momen; Rezaei-Matehkolaei, Ali; Najafzadeh, Mohammad Javad; Moazeni, Maryam; Dolatabadi, Somayeh; Hosseinpour, Leila

    2014-06-01

    Infectious arthritis due to Candida glabrata is very rare. A 40-year-old Iranian man had developed a painful swelling on the left knee since a year ago. A surgery (meniscectomy) was performed on his knee. However, in follow-up visit after 2 months, the patient's condition was deteriorated. Direct examination of synovial fluid with Gram and hematoxylin-eosin stains were negative for any bacterial or fungal infection or crystal elements; however, inoculation into BACTEC™ Mycosis IC/F and Plus Aerobic/F culture bottles led to the isolation of a yeast strain. The macroscopic examination on CHROMagar™ Candida medium combined with microscopical examination on CMT80 agar made a presumptive identification of the isolate to be considered as C. glabrata, and it was later on confirmed by ITS sequencing. Initial empirical treatment was started with intravenous amphotericin B for 4 weeks followed by oral itraconazole which was unsuccessful. Prescription of an oral 150-mg tablet of fluconazole was considered for a 2-month course. All symptoms completely declined, and no recurrence of infection was detected. Antifungal susceptibility testing (AFST) was performed for this isolate, and the result showed sensitivity to both amphotericin B and itraconazole and less susceptibility to fluconazole while clinical recovery was achieved by fluconazole. In any suspected clinical case caused by infectious agents, application of an effective fungal diagnostic test should be considered to avoid complications due to misdiagnosis. The correlation of AFST result with real in vivo therapeutic responses can be strain or patient dependent, and this should be considered for a successive treatment.

  17. Challenging behaviors among children with autism spectrum disorders and multiple disabilities attending special schools in Singapore.

    PubMed

    Poon, Kenneth K

    2012-01-01

    This study sought to understand the profile of and the factors which impact upon challenging behaviors among children with autism spectrum disorders (ASD) and multiple disabilities (MD). Teachers of 322 and 132 children with ASD and MD, respectively, attending special schools in Singapore, completed the Developmental Behavior Checklist, Teacher Version (DBC-T; Einfeld & Tonge, 1995). The findings suggest that children with ASD exhibit elevated levels of challenging behavior in all areas, relative to children with MD. Multiple regression analyses also indicate that diagnostic category was associated with all aspects of challenging behavior measured by the DBC-T. In addition, age was associated with only disruptive/antisocial behaviors in this study. Theoretical and practical implications were discussed. Copyright © 2011 Elsevier Ltd. All rights reserved.

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

    PubMed Central

    Wallace, Andrew J

    2016-01-01

    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

  19. 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.

  20. Parent-Child Diagnostic Agreement on Anxiety Symptoms with a Structured Diagnostic Interview for Mental Disorders in Children

    PubMed Central

    Popp, Lukka; Neuschwander, Murielle; Mannstadt, Sandra; In-Albon, Tina; Schneider, Silvia

    2017-01-01

    Objective: In clinical structured diagnostic interviews, diagnoses based on parent and child reports have low to moderate agreement. The aims of the present study are (1) to examine diagnostic agreement on anxiety disorders between parents and children on the levels of current and lifetime diagnostic category and diagnoses focusing in particular on diagnostic criteria and (2) to identify parent- and child-related predictors for diagnostic agreement. Method: The sample consisted of 166 parent-child dyads interviewed with the Structured Diagnostic Interview for Mental Disorders in Children (Kinder-DIPS, Schneider et al., 2009). The children (51.8% girls) were between the ages of 7 and 18 years (M = 10.94; SD = 2.22). Results: Overall, parent-child agreement on the diagnostic category of anxiety disorder (k = 0.21; k = 0.22) and the specific anxiety diagnoses (base rate > 10%) of social phobia, specific phobia and separation anxiety disorder (k = 0.24–0.52; k = 0.19–0.43) and corresponding diagnostic criteria (k = 0.22–0.67; k = 0.24–0.41) were low to moderate with the highest agreement on separation anxiety disorder (k > 0.43). Lower maternal depression, and higher social support reported by mother and father were associated with higher parent-child agreement. Maternal depression was indicated as the strongest predictor. Parental sense of competence, parental anxiety, the amount of parent-child interaction and the child's age and gender had no predictive value. Conclusions: Parent-child agreement can be expected to be higher on the level of anxiety criteria compared to specific anxiety diagnoses and diagnostic anxiety category. Psychological strains in the family—especially maternal depression and low social support—lower the parent-child agreement on anxiety symptoms. Child- and relation-related variables (age, gender, amount of time parent(s) and children interact) play no role in the prediction of low parent-child agreement. PMID:28396644

  1. 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.

  2. Diagnostics of Inherited Bleeding Disorders of Secondary Hemostasis: An Easy Guide for Routine Clinical Laboratories.

    PubMed

    Lippi, Giuseppe; Franchini, Massimo; Favaloro, Emmanuel J

    2016-07-01

    The investigation of inherited bleeding disorders of secondary hemostasis remains a challenge for most clinical laboratories, especially those that lack experience or specialized personnel. Bleeding can be essentially caused by a variety of acquired or congenital conditions, which impair either primary or secondary hemostasis. Since a universally agreed approach for the diagnostics of hemorrhagic disorders is still unavailable, this article aims to provide an easy guidance for routine clinical laboratories. This pragmatic approach to identifying and diagnosing inherited bleeding disorders of secondary hemostasis entails a multifaceted strategy, based on a collection of personal and family history, the results of first-line tests, which can then be followed by second- or third-line analyses to definitely establish the specific nature and the severity of the bleeding phenotype. Briefly, the presence of profound hemorrhages rather than mucocutaneous bleeding is suggestive of a disorder of secondary hemostasis. Although a positive family history is frequently reported in patients with congenital conditions, the lack of clinically meaningful symptoms in patient's relatives is not absolutely indicative of an acquired disorder. The next step encompasses the assessment of first-line coagulation tests (i.e., prothrombin time, activated partial thromboplastin time, and fibrinogen) if family history is not suggestive of a specific factor deficiency. The emergence of abnormal data of these assays and the variable combination of their results is then helpful to guide the performance of second-line tests, in particular specific factor assays, which will then provide a reasonable basis for a preliminary diagnosis. Third-line tests (namely, immunological assays of clotting factors and molecular biology) are then supportive for a final diagnosis and for identifying the nature of the factor deficiency (i.e., quantitative or functional). Thieme Medical Publishers 333 Seventh Avenue

  3. Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.

    PubMed

    Rossi, Mari; El-Khechen, Dima; Black, Mary Helen; Farwell Hagman, Kelly D; Tang, Sha; Powis, Zöe

    2017-05-01

    Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. We performed diagnostic exome sequencing in a cohort of 163 individuals with autism spectrum disorder (66.3%) or autistic features (33.7%). The diagnostic yield observed in patients in our cohort was 25.8% (42 of 163) for positive or likely positive findings in characterized disease genes, while a candidate genetic etiology was reported for an additional 3.3% (4 of 120) of patients. Among the positive findings in the patients with autism spectrum disorder or autistic features, 61.9% were the result of de novo mutations. Patients presenting with psychiatric conditions or ataxia or paraplegia in addition to autism spectrum disorder or autistic features were significantly more likely to receive positive results compared with patients without these clinical features (95.6% vs 27.1%, P < 0.0001; 83.3% vs 21.2%, P < 0.0001, respectively). The majority of the positive findings were in recently identified autism spectrum disorder genes, supporting the importance of diagnostic exome sequencing for patients with autism spectrum disorder or autistic features as the causative genes might evade traditional sequential or panel testing. These results suggest that diagnostic exome sequencing would be an efficient primary diagnostic method for patients with autism spectrum disorders or autistic features. Moreover, our data may aid clinicians to better determine which subset of patients with autism spectrum disorder with additional clinical features would benefit the most from diagnostic exome sequencing. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  4. Dioxins: diagnostic and prognostic challenges arising from complex mechanisms

    PubMed Central

    Rysavy, Noel M.; Maaetoft-Udsen, Kristina; Turner, Helen

    2013-01-01

    Dioxins are ubiquitous environmental challenges to humans, with a pervasiveness that arises from two hundred years of rapid industrialization and mechanization of Western societies and which is now extending into the developing world. Despite their penetrance of the human biota, these compounds are poorly understood in terms of their true physiological potential for harm, and the mechanisms by which they impact cellular and organ level function are only recently becoming clear. Emerging awareness that chronic exposures to toxins may have generational and subtle effects on the outcomes of diseases such as cancer and diabetes, which are already multifactorial and highly complex, creates the context for the current review paper. Here, we summarize dioxin exposure paradigms and the resulting physiological effects that have been documented in animals and humans. Novel insights into potential endogenous end exogenous ligands, as well as the mechanisms by which these ligands impact acute and chronic cellular processes, are discussed. We develop the idea that the diagnosis of dioxin exposure, the subtleties of the cellular effects of the compounds and prognosis of the long term effects of exposure are problems requiring that researchers leverage the power of genomics and epigenetics. However, the continuation of longitudinal epidemiological studies and development of a firmer basis from which to extrapolate animal studies will be critical in ensuring optimal insight from these resource-intensive techniques. PMID:22610997

  5. Biologics industry challenges for developing diagnostic tests for the National Veterinary Stockpile.

    PubMed

    Hardham, J M; Lamichhane, C M

    2013-01-01

    Veterinary diagnostic products generated ~$3 billion US dollars in global sales in 2010. This industry is poised to undergo tremendous changes in the next decade as technological advances move diagnostic products from the traditional laboratory-based and handheld immunologic assays towards highly technical, point of care devices with increased sensitivity, specificity, and complexity. Despite these opportunities for advancing diagnostic products, the industry continues to face numerous challenges in developing diagnostic products for emerging and foreign animal diseases. Because of the need to deliver a return on the investment, research and development dollars continue to be focused on infectious diseases that have a negative impact on current domestic herd health, production systems, or companion animal health. Overcoming the administrative, legal, fiscal, and technological barriers to provide veterinary diagnostic products for the National Veterinary Stockpile will reduce the threat of natural or intentional spread of foreign diseases and increase the security of the food supply in the US.

  6. 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.

  7. 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.

  8. 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.

  9. Inclusion of gaming disorder in the diagnostic classifications and promotion of public health response.

    PubMed

    Shadloo, Behrang; Farnam, Rabert; Amin-Esmaeili, Masoumeh; Hamzehzadeh, Marziyeh; Rafiemanesh, Hosein; Jobehdar, Maral Mardaneh; Ghani, Kamyar; Charkhgard, Nader; Rahimi-Movaghar, Afarin

    2017-08-17

    There are ongoing controversies regarding the upcoming ICD-11 concept of gaming disorder. Recently, Aarseth et al. have put this diagnostic entity into scrutiny. Although we, a group of Iranian researchers and clinicians, acknowledge some of Aarseth et al.'s concerns, believe that the inclusion of gaming disorder in the upcoming ICD-11 would facilitate necessary steps to raise public awareness, enhance development of proper diagnostic approaches and treatment interventions, and improve health and non-health policies.

  10. Molecular Mechanisms of Bipolar Disorder: Progress Made and Future Challenges

    PubMed Central

    Kim, Yeni; Santos, Renata; Gage, Fred H.; Marchetto, Maria C.

    2017-01-01

    Bipolar disorder (BD) is a chronic and progressive psychiatric illness characterized by mood oscillations, with episodes of mania and depression. The impact of BD on patients can be devastating, with up to 15% of patients committing suicide. This disorder is associated with psychiatric and medical comorbidities and patients with a high risk of drug abuse, metabolic and endocrine disorders and vascular disease. Current knowledge of the pathophysiology and molecular mechanisms causing BD is still modest. With no clear biological markers available, early diagnosis is a great challenge to clinicians without previous knowledge of the longitudinal progress of illness. Moreover, despite recommendations from evidence-based guidelines, polypharmacy is still common in clinical treatment of BD, reflecting the gap between research and clinical practice. A major challenge in BD is the development of effective drugs with low toxicity for the patients. In this review article, we focus on the progress made and future challenges we face in determining the pathophysiology and molecular pathways involved in BD, such as circadian and metabolic perturbations, mitochondrial and endoplasmic reticulum (ER) dysfunction, autophagy and glutamatergic neurotransmission; which may lead to the development of new drugs. PMID:28261061

  11. Molecular Mechanisms of Bipolar Disorder: Progress Made and Future Challenges.

    PubMed

    Kim, Yeni; Santos, Renata; Gage, Fred H; Marchetto, Maria C

    2017-01-01

    Bipolar disorder (BD) is a chronic and progressive psychiatric illness characterized by mood oscillations, with episodes of mania and depression. The impact of BD on patients can be devastating, with up to 15% of patients committing suicide. This disorder is associated with psychiatric and medical comorbidities and patients with a high risk of drug abuse, metabolic and endocrine disorders and vascular disease. Current knowledge of the pathophysiology and molecular mechanisms causing BD is still modest. With no clear biological markers available, early diagnosis is a great challenge to clinicians without previous knowledge of the longitudinal progress of illness. Moreover, despite recommendations from evidence-based guidelines, polypharmacy is still common in clinical treatment of BD, reflecting the gap between research and clinical practice. A major challenge in BD is the development of effective drugs with low toxicity for the patients. In this review article, we focus on the progress made and future challenges we face in determining the pathophysiology and molecular pathways involved in BD, such as circadian and metabolic perturbations, mitochondrial and endoplasmic reticulum (ER) dysfunction, autophagy and glutamatergic neurotransmission; which may lead to the development of new drugs.

  12. 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…

  13. Post-Traumatic Stress Disorder in Maltreated Youth: A Study of Diagnostic Comorbidity and Child Factors

    ERIC Educational Resources Information Center

    Linning, Lisa M.; Kearney, Christopher A.

    2004-01-01

    The study of post-traumatic stress disorder (PTSD) in maltreated youth has received increased attention, though extensive comparisons to maltreated youth without PTSD and administrations of anxiety-based structured diagnostic interviews remain needed. We examined maltreated youth with or without PTSD using structured diagnostic interviews and…

  14. 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…

  15. 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…

  16. 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…

  17. Symmetrical treatment of "Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition", for major depressive disorders.

    PubMed

    Sawamura, Jitsuki; Morishita, Shigeru; Ishigooka, Jun

    2016-01-01

    We previously presented a group theoretical model that describes psychiatric patient states or clinical data in a graded vector-like format based on modulo groups. Meanwhile, the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5, the current version), is frequently used for diagnosis in daily psychiatric treatments and biological research. The diagnostic criteria of DSM-5 contain simple binominal items relating to the presence or absence of specific symptoms. In spite of its simple form, the practical structure of the DSM-5 system is not sufficiently systemized for data to be treated in a more rationally sophisticated way. To view the disease states in terms of symmetry in the manner of abstract algebra is considered important for the future systematization of clinical medicine. We provide a simple idea for the practical treatment of the psychiatric diagnosis/score of DSM-5 using depressive symptoms in line with our previously proposed method. An expression is given employing modulo-2 and -7 arithmetic (in particular, additive group theory) for Criterion A of a 'major depressive episode' that must be met for the diagnosis of 'major depressive disorder' in DSM-5. For this purpose, the novel concept of an imaginary value 0 that can be recognized as an explicit 0 or implicit 0 was introduced to compose the model. The zeros allow the incorporation or deletion of an item between any other symptoms if they are ordered appropriately. Optionally, a vector-like expression can be used to rate/select only specific items when modifying the criterion/scale. Simple examples are illustrated concretely. Further development of the proposed method for the criteria/scale of a disease is expected to raise the level of formalism of clinical medicine to that of other fields of natural science.

  18. Addressing the challenges of diagnostics demand and supply: insights from an online global health discussion platform.

    PubMed

    Engel, Nora; Wachter, Keri; Pai, Madhukar; Gallarda, Jim; Boehme, Catharina; Celentano, Isabelle; Weintraub, Rebecca

    2016-01-01

    Several barriers challenge development, adoption and scale-up of diagnostics in low and middle income countries. An innovative global health discussion platform allows capturing insights from the global health community on factors driving demand and supply for diagnostics. We conducted a qualitative content analysis of the online discussion 'Advancing Care Delivery: Driving Demand and Supply of Diagnostics' organised by the Global Health Delivery Project (GHD) (http://www.ghdonline.org/) at Harvard University. The discussion, driven by 12 expert panellists, explored what must be done to develop delivery systems, business models, new technologies, interoperability standards, and governance mechanisms to ensure that patients receive the right diagnostic at the right time. The GHD Online (GHDonline) platform reaches over 19 000 members from 185 countries. Participants (N=99) in the diagnostics discussion included academics, non-governmental organisations, manufacturers, policymakers, and physicians. Data was coded and overarching categories analysed using qualitative data analysis software. Participants considered technical characteristics of diagnostics as smaller barriers to effective use of diagnostics compared with operational and health system challenges, such as logistics, poor fit with user needs, cost, workforce, infrastructure, access, weak regulation and political commitment. Suggested solutions included: health system strengthening with patient-centred delivery; strengthened innovation processes; improved knowledge base; harmonised guidelines and evaluation; supply chain innovations; and mechanisms for ensuring quality and capacity. Engaging and connecting different actors involved with diagnostic development and use is paramount for improving diagnostics. While the discussion participants were not representative of all actors involved, the platform enabled a discussion between globally acknowledged experts and physicians working in different countries.

  19. A diagnosis of bipolar spectrum disorder predicts diagnostic conversion from unipolar depression to bipolar disorder: a 5-year retrospective study.

    PubMed

    Woo, Young Sup; Shim, In Hee; Wang, Hee-Ryung; Song, Hoo Rim; Jun, Tae-Youn; Bahk, Won-Myong

    2015-03-15

    The major aims of this study were to identify factors that may predict the diagnostic conversion from major depressive disorder (MDD) to bipolar disorder (BP) and to evaluate the predictive performance of the bipolar spectrum disorder (BPSD) diagnostic criteria. The medical records of 250 patients with a diagnosis of MDD for at least 5 years were retrospectively reviewed for this study. The diagnostic conversion from MDD to BP was observed in 18.4% of 250 MDD patients, and the diagnostic criteria for BPSD predicted this conversion with high sensitivity (0.870) and specificity (0.917). A family history of BP, antidepressant-induced mania/hypomania, brief major depressive episodes, early age of onset, antidepressant wear-off, and antidepressant resistance were also independent predictors of this conversion. This study was conducted using a retrospective design and did not include structured diagnostic interviews. The diagnostic criteria for BPSD were highly predictive of the conversion from MDD to BP, and conversion was associated with several clinical features of BPSD. Thus, the BPSD diagnostic criteria may be useful for the prediction of bipolar diathesis in MDD patients. Copyright © 2014 Elsevier B.V. All rights reserved.

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

    PubMed

    Ragazzoni, Aldo; Cincotta, Massimo; Giovannelli, Fabio; Cruse, Damian; Young, G Bryan; Miniussi, Carlo; Rossi, Simone

    2017-09-01

    The identification of signs of awareness in patients with prolonged disorders of consciousness (DoC) after severe brain injury is a challenging task for clinicians. Differentiating on behavioural examination the vegetative state (VS) from the minimally conscious state (MCS) can lead to a high misdiagnosis rate. Advanced neuroimaging and neurophysiological techniques can supplement clinical evaluation by providing physiological evidence of brain activity. However, an open issue remains whether these empirical results are directly or indirectly associated with covert consciousness and limitations emerge for their diagnostic application at the single-patient level. On the therapeutic side, the efficacy of both non-invasive and invasive brain stimulation/modulation trials is matter of debate. The present review provides an updated analysis of the diagnostic and prognostic impact that the different neurophysiological techniques of stimulation [including short-latency evoked potentials, long-latency event related potentials (ERPs), transcranial magnetic stimulation (TMS), TMS-EEG co-registration] offer in prolonged DoC. The results of the therapeutic stimulation techniques are also evaluated. It is concluded that TMS-EEG emerges as the most promising tool for differentiating VS from MCS whereas ERPs allow neurophysiologists to probe covert cognitive capacities of each patient. Significant behavioural improvements in prolonged DoC with brain stimulation techniques are still anecdotical and further treatment options are awaited. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  1. Therapeutic challenges of attention-deficit hyperactivity disorder with substance use disorders.

    PubMed

    Bukstein, Oscar G

    2006-04-01

    Attention-deficit hyperactivity disorder (ADHD), a common neuropsychiatric disorder of childhood, adolescence and adulthood, is frequently comorbid with substance use disorders (SUDs) in both adolescents and adults. This paper will provide an overview of the relationship between ADHD and SUDs and discuss the primary areas of therapeutic challenge in the treatment of individuals with comorbid ADHD and SUDs, including the diagnosis of ADHD in populations with SUDs, selecting appropriate agents for use and prevention of abuse and/or diversion of the therapeutic pharmacological agents used in ADHD treatment. The authors will also provide a discussion on the future of research and treatment in this area and key issues for clinicians.

  2. Diagnostic utility of worry and rumination: a comparison between generalized anxiety disorder and major depressive disorder.

    PubMed

    Yang, Min-Jeong; Kim, Bin-Na; Lee, Eun-Ho; Lee, Dongsoo; Yu, Bum-Hee; Jeon, Hong Jin; Kim, Ji-Hae

    2014-09-01

    Although previous reports have addressed worry and rumination as prominent cognitive processes in generalized anxiety disorder (GAD) and major depressive disorder (MDD) and their distinct correlation with anxious and depressive symptoms, the differential association of worry and rumination with the diagnosis of GAD and MDD remains unclear. The purpose of this study was to investigate the distinct features of worry and rumination in factor structure and their predictive validity for the diagnosis of GAD and MDD. Four hundred and sixty-eight patients with GAD (n = 148) and MDD (n = 320) were enrolled and the diagnoses were confirmed with the Structured Clinical Interview for DSM-IV. Participants completed the Penn State Worry Questionnaire and Ruminative Response Scale and the severity of anxiety and depressive symptoms was assessed via clinician ratings. In joint factor analysis using the Penn State Worry Questionnaire and Ruminative Response Scale items, worry and rumination emerged as distinct factors. In logistic regression analyses, worry contributed to a higher probability of the diagnosis of GAD than rumination, as rumination did in MDD than worry. This is the first comprehensive study investigating the diagnostic utility of worry and rumination in a well-defined clinical sample of both GAD and MDD. Our results suggest that worry and rumination are distinct cognitive processes and play a differential role in the diagnosis of GAD and MDD, distinguishing them at the cognitive level. © 2014 The Authors. Psychiatry and Clinical Neurosciences © 2014 Japanese Society of Psychiatry and Neurology.

  3. Diagnostic validity of comorbid bipolar disorder and obsessive-compulsive disorder: a systematic review.

    PubMed

    Amerio, A; Odone, A; Liapis, C C; Ghaemi, S N

    2014-05-01

    At least 50% of bipolar disorder (BD) patients have an additional diagnosis, one of the most difficult to manage being obsessive-compulsive disorder (OCD). Defining the nosology of BD-OCD comorbidity has important clinical implications, given that treatments for OCD can worsen BD outcomes. A systematic review was conducted on: i) BD-OCD comorbidity lifetime prevalence and ii) on standard diagnostic validators: phenomenology, course of illness, heredity, biological markers, and treatment response. Relevant papers published through March 30th 2013 were identified searching the electronic databases MEDLINE, Embase, PsycINFO, and the Cochrane Library. Sixty-four articles met inclusion criteria. Lifetime comorbidity prevalence was 11-21% in BD patients and 6-10% in OCD patients. Compared to non-comorbid subjects, BD-OCD has a more episodic course of OC symptoms (up to 75% vs. 3%), typically with worsening during depression (78%) and improvement during mania/hypomania (64%), as well as a higher total mean number of depressive episodes (8.9±4.2 vs. 4.1±2.7) and perhaps more antidepressant-induced mania/hypomania (39% vs. 9%). In this first systematic review of BD-OCD comorbidity, it appears that OC symptoms are usually secondary to BD, rather than representing a separate disease. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. Strategies for overcoming challenges for decentralised diagnostics in resource-limited and catastrophe settings.

    PubMed

    Sharma, Shikha; Crawley, Aoife; O'Kennedy, Richard

    2017-02-01

    Globally, both communicable and non-communicable diseases pose a serious threat to populations in developed as well as developing countries. Access to reliable diagnostic testing along with qualified health practitioners is severely limited in low resource and very remote areas and following natural catastrophes. Areas covered: This paper provides an overview of the challenges involved and suggests strategies to address them. The emergence of more robust, user-friendly, cost-effective and 'sample-to-result' point-of-care (POC) tools, along with the proliferation of mobile technologies, may provide a practical approach in addressing some of the challenges. Expert commentary: The successful implementation of POC testing requires the availability of versatile diagnostic technologies, improved platforms and back-up infrastructure, successful leveraging of human resources through training and, finally, engagement/coordination of associated stakeholders, including public health agencies, diagnostics companies, healthcare practitioners and local rural authorities.

  5. Computer-assisted diagnostic decision support: history, challenges, and possible paths forward.

    PubMed

    Miller, Randolph A

    2009-09-01

    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 indicate the original sources of many of these ideas.

  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. View of the Challenger's payload bay and the Plasma Diagnostic package

    NASA Technical Reports Server (NTRS)

    1985-01-01

    The solar optical universal polarimeter (SOUP) experiment is visible among the cluster of Spacelab 2 hardware in the cargo bay of the Shuttle Challenger. Various components of the instrument positioning system (IPS) are conspicuous at the center of the frame. The Plasma Diagnostic package (PDP) is seen attached to the remote manipulator system (RMS) above the open payload bay.

  8. View of the Challenger's payload bay and the Plasma Diagnostic package

    NASA Image and Video Library

    1985-08-01

    51F-33-024 (29 July-6 Aug 1985) --- The Challenger's remote manipulator system (RMS) arm grasps the plasma diagnostics package (PDP) over the experiment-laden cargo bay of the earth orbiting spacecraft. The instrument pointing system, in a resting mode here, is prominent in the bay.

  9. Diagnostic and Therapeutic Challenges in a Liver Transplant Recipient with Central Nervous System Invasive Aspergillosis

    PubMed Central

    Dionissios, Neofytos; Shmuel, Shoham; Kerry, Dierberg; Katharine, Le; Simon, Dufresne; Sean, Zhang X; Kieren, Marr A

    2012-01-01

    This is a case report of central nervous system (CNS) invasive aspergillosis (IA) in a liver transplant recipient, which illustrates the utility of enzyme-based diagnostic tools for the timely and accurate diagnosis of IA, the treatment challenges and poor outcomes associated with CNS IA in liver transplant recipients. PMID:22676861

  10. 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…

  11. Assessing Cognitive Function in Bipolar Disorder: Challenges and Recommendations for Clinical Trial Design

    PubMed Central

    Burdick, Katherine E.; Ketter, Terence A.; Goldberg, Joseph F.; Calabrese, Joseph R.

    2015-01-01

    OBJECTIVE Neurocognitive impairment in schizophrenia has been recognized for more than a century. In contrast, only recently have significant neurocognitive deficits been recognized in bipolar disorder. Converging data suggest the importance of cognitive problems in relation to quality of life in bipolar disorder, highlighting the need for treatment and prevention efforts targeting cognition in bipolar patients. Future treatment trials targeting cognitive deficits will be met with methodological challenges due to the inherent complexity and heterogeneity of the disorder, including significant diagnostic comorbidities, the episodic nature of the illness, frequent use of polypharmacy, cognitive heterogeneity, and a lack of consensus regarding measurement of cognition and outcome in bipolar patients. Guidelines for use in designing future trials are needed. PARTICIPANTS The members of the consensus panel (each of the bylined authors) were selected based upon their expertise in bipolar disorder. Dr. Burdick is a neuropsychologist who has studied cognition in this illness for 15 years; Drs. Ketter, Calabrese, and Goldberg each bring considerable expertise in the treatment of bipolar disorder both within and outside of controlled clinical trials. This consensus statement was derived from work together at scientific meetings (e.g. symposium presention at the 2014 Annual meeting of the American Society of Clinical Psychopharmacology, among others) and ongoing discussions by conference call. With the exception of the public presentations on this topic, these meetings were closed to outside participants. EVIDENCE A literature review was undertaken by the authors to identify illness-specific challenges relevant to the design and conduct of treatment trials targeting neurocognition in bipolar disorder. Expert opinion from each of the authors guided the consensus recommendations. CONSENSUS PROCESS Consensus recommendations, reached by unanimous opinion of the authors, are

  12. [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.

  13. Challenges and opportunities for next-generation sequencing in companion diagnostics.

    PubMed

    Lin, Erick; Chien, Jeremy; Ong, Frank S; Fan, Jian-Bing

    2015-02-01

    The rapid decline in sequencing costs has allowed next-generation sequencing (NGS) assays, previously ubiquitous only in research laboratories, to begin making inroads into molecular diagnostics. Genotypic assays - DNA sequencing - include whole genome sequencing, whole exome sequencing, focused assays that target only a handful of genes. Phenotypic assays comprise a broader spectrum of options and can query a variety of epigenetic modifications of DNA (such as ChIP-seq, bisulfite sequencing, DNase-I hypersensitivity site-sequencing, Formaldehyde-Assisted Isolation of Regulatory Elements-sequencing, etc.) that regulate gene expression-related processes or gene expression (RNA-sequencing) itself. To date, the US FDA has only cleared 12 DNA-based companion diagnostic tests, all in cancer. Although challenges exist for NGS in companion diagnostics, the wide-ranging capabilities of NGS offer extraordinary opportunities for the development and implementation of NGS-based companion diagnostics to probe oncogenes, tumor suppressor genes and cancer-enabling genes.

  14. 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…

  15. 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…

  16. 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…

  17. 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…

  18. 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…

  19. 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…

  20. 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

  1. 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.

  2. Addressing the challenges of diagnostics demand and supply: insights from an online global health discussion platform

    PubMed Central

    Engel, Nora; Wachter, Keri; Pai, Madhukar; Gallarda, Jim; Boehme, Catharina; Celentano, Isabelle; Weintraub, Rebecca

    2016-01-01

    Several barriers challenge development, adoption and scale-up of diagnostics in low and middle income countries. An innovative global health discussion platform allows capturing insights from the global health community on factors driving demand and supply for diagnostics. We conducted a qualitative content analysis of the online discussion ‘Advancing Care Delivery: Driving Demand and Supply of Diagnostics’ organised by the Global Health Delivery Project (GHD) (http://www.ghdonline.org/) at Harvard University. The discussion, driven by 12 expert panellists, explored what must be done to develop delivery systems, business models, new technologies, interoperability standards, and governance mechanisms to ensure that patients receive the right diagnostic at the right time. The GHD Online (GHDonline) platform reaches over 19 000 members from 185 countries. Participants (N=99) in the diagnostics discussion included academics, non-governmental organisations, manufacturers, policymakers, and physicians. Data was coded and overarching categories analysed using qualitative data analysis software. Participants considered technical characteristics of diagnostics as smaller barriers to effective use of diagnostics compared with operational and health system challenges, such as logistics, poor fit with user needs, cost, workforce, infrastructure, access, weak regulation and political commitment. Suggested solutions included: health system strengthening with patient-centred delivery; strengthened innovation processes; improved knowledge base; harmonised guidelines and evaluation; supply chain innovations; and mechanisms for ensuring quality and capacity. Engaging and connecting different actors involved with diagnostic development and use is paramount for improving diagnostics. While the discussion participants were not representative of all actors involved, the platform enabled a discussion between globally acknowledged experts and physicians working in different

  3. Joint intracapsular disorders: diagnostic and nonsurgical management considerations.

    PubMed

    Okeson, Jeffrey P

    2007-01-01

    This article reviews common intracapsular temporomandibular disorders encountered in the dental practice. It begins with a brief review of normal temporomandibular joint anatomy and function followed by a description of the common types of disorders known as internal derangements. The etiology, history, and clinical presentation of each are reviewed. Nonsurgical management is presented based on current long-term scientific evidence.

  4. 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. Copyright © 2014 Elsevier Inc. All rights reserved.

  5. 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.

  6. Biased attention to threat in paediatric anxiety disorders (generalized anxiety disorder, social phobia, specific phobia, separation anxiety disorder) as a function of 'distress' versus 'fear' diagnostic categorization.

    PubMed

    Waters, A M; Bradley, B P; Mogg, K

    2014-02-01

    Structural models of emotional disorders propose that anxiety disorders can be classified into fear and distress disorders. Sources of evidence for this distinction come from genetic, self-report and neurophysiological data from adults. The present study examined whether this distinction relates to cognitive processes, indexed by attention bias towards threat, which is thought to cause and maintain anxiety disorders. Diagnostic and attention bias data were analysed from 435 children between 5 and 13 years of age; 158 had principal fear disorder (specific phobia, social phobia or separation anxiety disorder), 75 had principal distress disorder (generalized anxiety disorder, GAD) and 202 had no psychiatric disorder. Anxious children were a clinic-based treatment-seeking sample. Attention bias was assessed on a visual-probe task with angry, neutral and happy faces. Compared to healthy controls, children with principal distress disorder (GAD) showed a significant bias towards threat relative to neutral faces whereas children with principal fear disorder showed an attention bias away from threat relative to neutral faces. Overall, children displayed an attention bias towards happy faces, irrespective of diagnostic group. Our findings support the distinction between fear and distress disorders, and extend empirically derived structural models of emotional disorders to threat processing in childhood, when many anxiety disorders begin and predict lifetime impairment.

  7. The myth of DSM's invention of new categories of disorder: Houts's diagnostic discontinuity thesis disconfirmed.

    PubMed

    Wakefield, J C

    2001-05-01

    Houts (2001) argues that increases in DSM diagnostic categories are due to the invention of new disorders that are discontinuous with old conceptions of disorder and would not have been previously diagnosed. He maintains that DSM category increases are not comparable in nature to ICD category increases, which are mainly refinements of recognized disorders. I survey categories of disorder introduced after DSM-II and assess whether they are discontinuous with old concepts and categories of disorder. Candidate categories are identified from: Houts and Follette (1998), Mentalism, mechanisms, and medical analogues: Reply to Wakefield. Journal of Consulting and Clinical Psychology; Kutchins and Kirk (1997) Making us crazy: DSM: The psychiatric bible and the creation of mental disorders. New York: Free Press; and my own list. The result is that virtually none of the candidate categories are invented, discontinuous categories. In almost every case, the newly labeled conditions were considered disorders at the time of DSM-II and would have been diagnosed under DSM-II categories. I also reexamine DSM-IV sleep disorder categories, which Houts claims are discontinuous with past diagnostic conceptions. The result is that all DSM-IV sleep disorders were recognized as disorders at the time of DSM-II, and most were recognized as mental disorders. I conclude that DSM category increases are comparable in nature to ICD category increases, and that the invention-of-disorder account cannot explain the vast majority of such increases.

  8. 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.

  9. 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

  10. [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.

  11. Fear of Vomiting and Low Body Weight in Two Pediatric Patients: Diagnostic Challenges.

    PubMed

    Maertens, Charlotte; Couturier, Jennifer; Grant, Christina; Johnson, Natasha

    2017-01-01

    Fear of vomiting can be a symptom associated with several disorders, including Eating Disorders (ED), Specific Phobia (Emetophobia), Avoidant Restrictive Food Intake Disorder (ARFID) and Obsessive Compulsive Disorder (OCD), making proper diagnosis challenging. At this time the literature exploring this symptom is limited, and to our knowledge very few cases have been described in the child and adolescent population. We report here the cases of one child and one adolescent presenting with significant weight loss, food restriction and fear of vomiting. The child's fear of vomiting masked a concurrent desire to achieve fitness and weight loss, which was uncovered following weight restoration. The adolescent patient, although significantly underweight and food avoidant, also expressed no concerns with body image, until weight restored. The history, course in hospital and management of these patients is discussed, along with several challenges that complicated the diagnosis.

  12. Fear of Vomiting and Low Body Weight in Two Pediatric Patients: Diagnostic Challenges

    PubMed Central

    Maertens, Charlotte; Couturier, Jennifer; Grant, Christina; Johnson, Natasha

    2017-01-01

    Fear of vomiting can be a symptom associated with several disorders, including Eating Disorders (ED), Specific Phobia (Emetophobia), Avoidant Restrictive Food Intake Disorder (ARFID) and Obsessive Compulsive Disorder (OCD), making proper diagnosis challenging. At this time the literature exploring this symptom is limited, and to our knowledge very few cases have been described in the child and adolescent population. We report here the cases of one child and one adolescent presenting with significant weight loss, food restriction and fear of vomiting. The child’s fear of vomiting masked a concurrent desire to achieve fitness and weight loss, which was uncovered following weight restoration. The adolescent patient, although significantly underweight and food avoidant, also expressed no concerns with body image, until weight restored. The history, course in hospital and management of these patients is discussed, along with several challenges that complicated the diagnosis. PMID:28331505

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

    PubMed

    Peralta, V; Cuesta, M J

    1998-01-01

    This study evaluated the prevalence and clinical correlates of abnormal subjective experiences across functional psychotic disorders. Patients were recruited from consecutive admissions with the following diagnoses; schizophrenia (n = 40), schizophreniform disorder (n = 40), schizoaffective disorder (n = 21), mood disorder (n = 18), brief reactive psychosis (n = 15), and atypical psychosis (n = 16). Subjective experiences were assessed using the Frankfurt Complaint Questionnaire (FCQ), and the clinical status was assessed with the Scales for the Assessment of Positive and Negative Symptoms (SAPS and SANS) and the Manual for the Assessment and Documentation of Psychopathology (AMDP). Neither the FCQ total score nor individual subjective experiences displayed significant differences across diagnoses. When the clinical predictors of subjective experiences were studied by multiple regression analyses, a different pattern resulted for individual psychotic disorders. In schizophrenic patients, subjective experiences were predicted by female gender, euphoria, lack of insight, greater illness severity, and more positive symptoms. The only predictors of subjective experiences in the schizophreniform disorder group were the negative symptoms. Within the affective disorders group, subjective experiences had no clinical predictors.

  14. Nanotechnology in Diagnostics and Therapeutics for Gastrointestinal Disorders

    PubMed Central

    Laroui, Hamed; Rakhya, Poonam; Xiao, Bo; Viennois, Emilie; Merlin, Didier

    2013-01-01

    This review describes the state of art in nanoparticle and nanodevice applications for medical diagnosis and disease treatment. Nanodevices, such as cantilevers, have been integrated into high-sensitivity disease marker diagnostic detectors and devices, are stable over long periods of time, and display reliable performance properties. Nanotechnology strategies have been applied to therapeutic purposes as well. For example, nanoparticle-based delivery systems have been developed to protect drugs from degradation, thereby reducing the required dose and dose frequency, improving patient comfort and convenience during treatment, and reducing treatment expenses. The main objectives for integrating nanotechnologies into diagnostic and therapeutic applications in the context of intestinal diseases are reviewed. PMID:23660079

  15. Challenges in diagnostic accuracy studies in primary care: the fecal calprotectin example

    PubMed Central

    2013-01-01

    Background Low disease prevalence and lack of uniform reference standards in primary care induce methodological challenges for investigating the diagnostic accuracy of a test. We present a study design that copes with these methodological challenges and discuss the methodological implications of our choices, using a quality assessment tool for diagnostic accuracy studies (QUADAS-2). Design The study investigates the diagnostic value of fecal calprotectin for detecting inflammatory bowel disease in children presenting with chronic gastrointestinal symptoms in primary care. It is a prospective cohort study including two cohorts of children: one cohort will be recruited in primary care and the other in secondary/tertiary care. Test results of fecal calprotectin will be compared to one of the two reference standards for inflammatory bowel disease: endoscopy with histopathological examination of mucosal biopsies or assessment of clinical symptoms at 1-year follow-up. Discussion According to QUADAS-2 the use of two reference standards and the recruitment of patients in two populations may cause differential verification bias and spectrum bias, respectively. The clinical relevance of this potential bias and methods to adjust for this are presented. This study illustrates the importance of awareness of the different kinds of bias that result from choices in the design phase of a diagnostic study in a low prevalence setting. This approach is exemplary for other diagnostic research in primary care. PMID:24274463

  16. 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…

  17. 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.

  18. Challenges and prospects for pharmacotherapy in functional gastrointestinal disorders

    PubMed Central

    Sanger, Gareth J.; Chang, Lin; Bountra, Chas; Houghton, Lesley A.

    2010-01-01

    Functional gastrointestinal disorders, such as irritable bowel syndrome and functional dyspepsia, are complex conditions with multiple factors contributing to their pathophysiology. As a consequence they are difficult to treat and have posed significant challenges to the pharmaceutical industry when trying to develop new and effective treatments. This review provides an overview of these difficulties and how the industry is reshaping its drug developmental strategies. It describes some of the more significant and encouraging advances that have occurred, and discusses how future research might embrace the opportunities provided by advances in genetic and in particular, epigenetic research. PMID:21180610

  19. Substance use disorders in military veterans: prevalence and treatment challenges

    PubMed Central

    Teeters, Jenni B; Lancaster, Cynthia L; Brown, Delisa G; Back, Sudie E

    2017-01-01

    Substance use disorders (SUDs) are a significant problem among our nation’s military veterans. In the following overview, we provide information on the prevalence of SUDs among military veterans, clinical characteristics of SUDs, options for screening and evidence-based treatment, as well as relevant treatment challenges. Among psychotherapeutic approaches, behavioral interventions for the management of SUDs typically involve short-term, cognitive-behavioral therapy interventions. These interventions focus on the identification and modification of maladaptive thoughts and behaviors associated with increased craving, use, or relapse to substances. Additionally, client-centered motivational interviewing approaches focus on increasing motivation to engage in treatment and reduce substance use. A variety of pharmacotherapies have received some support in the management of SUDs, primarily to help with the reduction of craving or withdrawal symptoms. Currently approved medications as well as treatment challenges are discussed. PMID:28919834

  20. Substance use disorders in military veterans: prevalence and treatment challenges.

    PubMed

    Teeters, Jenni B; Lancaster, Cynthia L; Brown, Delisa G; Back, Sudie E

    2017-01-01

    Substance use disorders (SUDs) are a significant problem among our nation's military veterans. In the following overview, we provide information on the prevalence of SUDs among military veterans, clinical characteristics of SUDs, options for screening and evidence-based treatment, as well as relevant treatment challenges. Among psychotherapeutic approaches, behavioral interventions for the management of SUDs typically involve short-term, cognitive-behavioral therapy interventions. These interventions focus on the identification and modification of maladaptive thoughts and behaviors associated with increased craving, use, or relapse to substances. Additionally, client-centered motivational interviewing approaches focus on increasing motivation to engage in treatment and reduce substance use. A variety of pharmacotherapies have received some support in the management of SUDs, primarily to help with the reduction of craving or withdrawal symptoms. Currently approved medications as well as treatment challenges are discussed.

  1. Severe Mood Dysregulation, Irritability, and the Diagnostic Boundaries of Bipolar Disorder in Youths

    PubMed Central

    Leibenluft, Ellen

    2012-01-01

    In recent years, increasing numbers of children have been diagnosed with bipolar disorder. In some cases, children with unstable mood clearly meet current diagnostic criteria for bipolar disorder, and in others, the diagnosis is unclear. Severe mood dysregulation is a syndrome defined to capture the symptomatology of children whose diagnostic status with respect to bipolar disorder is uncertain, that is, those who have severe, nonepisodic irritability and the hyperarousal symptoms characteristic of mania but who lack the well-demarcated periods of elevated or irritable mood characteristic of bipolar disorder. Levels of impairment are comparable between youths with bipolar disorder and those with severe mood dysregulation. An emerging literature compares children with severe mood dysregulation and those with bipolar disorder in longitudinal course, family history, and pathophysiology. Longitudinal data in both clinical and community samples indicate that nonepisodic irritability in youths is common and is associated with an elevated risk for anxiety and unipolar depressive disorders, but not bipolar disorder, in adulthood. Data also suggest that youths with severe mood dysregulation have lower familial rates of bipolar disorder than do those with bipolar disorder. While youths in both patient groups have deficits in face emotion labeling and experience more frustration than do normally developing children, the brain mechanisms mediating these pathophysiologic abnormalities appear to differ between the two patient groups. No specific treatment for severe mood dysregulation currently exists, but verification of its identity as a syndrome distinct from bipolar disorder by further research should include treatment trials. PMID:21123313

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

    PubMed Central

    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

    2016-01-01

    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 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 (x2 = 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. PMID:26802113

  3. The impact of cannabis and stimulant disorders on diagnostic stability in psychosis.

    PubMed

    Sara, Grant E; Burgess, Philip M; Malhi, Gin S; Whiteford, Harvey A; Hall, Wayne C

    2014-04-01

    Substance abuse adds to diagnostic uncertainty in psychosis and may increase the risk of transition from brief and affective psychoses to schizophrenia. This study examined whether comorbid substance disorder was associated with diagnostic instability and progression from other psychosis diagnoses to schizophrenia and whether effects differed for cannabis and stimulant-related disorders. We identified 24,306 individuals admitted to hospital with an ICD-10 psychosis diagnosis between 2000 and 2011. We examined agreement between initial diagnosis and final diagnosis over 2-5 years and predictors of diagnostic change toward and away from a final diagnosis of schizophrenia. Nearly half (46%) of participants with initial brief, atypical, or drug-induced psychoses were later diagnosed with schizophrenia. Persisting illicit drug disorders did not increase the likelihood of progression to schizophrenia (OR = 0.97; 95% CI, 0.89-1.04) but increased the likelihood of revision of index psychosis diagnosis away from schizophrenia (OR = 1.55; 95% CI, 1.40-1.71). Cannabis disorders predicted an increased likelihood of progression to schizophrenia (OR =1.12; 95% CI, 1.01-1.24), while stimulant disorders predicted a reduced likelihood (OR = 0.81; 95% CI, 0.67-0.97). Stimulant disorders were associated with greater overall diagnostic instability. Many people with initial diagnoses of brief and affective psychoses are later diagnosed with schizophrenia. Cannabis disorders are associated with diagnostic instability and greater likelihood of progression to schizophrenia. By contrast, comorbid stimulant disorders may be associated with better prognosis in psychosis, and it may be important to avoid premature closure on a diagnosis of schizophrenia when stimulant disorders are present. © Copyright 2014 Physicians Postgraduate Press, Inc.

  4. Examining Challenging Behaviors of Clients with Borderline Personality Disorder

    PubMed Central

    Chalker, Samantha A.; Carmel, Adam; Atkins, David C.; Landes, Sara J.; Kerbrat, Amanda H.; Comtois, Katherine Anne

    2015-01-01

    Few studies have examined effects of challenging behaviors of clients with borderline personality disorder (BPD) on psychotherapy outcomes. Dialectical behavior therapy (DBT) is an evidence-based treatment designed to treat chronic suicidality, self-directed violence (SDV), and emotion dysregulation, while targeting challenging behaviors. DBT has been shown to be effective with clients with BPD. We evaluated whether therapist reported challenging behaviors, such as high volume phone contacts or violating the therapist’s limits, during DBT would be associated with dropping out of DBT, severity and frequency of SDV, emotion regulation deficits, and client’s and therapist’s satisfaction of treatment. The current study examined challenging behaviors reported by therapists in a sample of 63 psychiatrically disabled outpatient DBT clients diagnosed with BPD (73% women, average age 37 years). More frequent phone contacts were associated with a decrease in dropout and psychological symptoms, and an increase in client and therapist satisfaction. More avoidance/disengagement behavior was associated with more than twice the risk of SDV and a decrease in therapist satisfaction. Findings suggest that the phone coaching might serve to maximize client satisfaction and reduce the likelihood of dropout. PMID:26496225

  5. Factors related to diagnostic persistence of attention deficit/hyperactivity disorder in Turkish children and adolescents.

    PubMed

    Ayaz, Ayşe Burcu; Ayaz, Muhammed; Gökçe, Sebla; Başgül, Şaziye Senem

    2016-01-01

    Attention-deficit/hyperactivity disorder (ADHD) is one of the most frequently occurring mental disorders in children and adolescents. The purpose of this study was to determine diagnostic persistence three years after the first clinical evaluation and to investigate the factors relating to diagnostic persistence in children and adolescents with ADHD. The study included 183 children and adolescents who were evaluated in the first admission. Of 183 children and adolescents, 142 children and adolescents were evaluated in the second admission and only the data of 142 children and adolescents were analysed in the study. Diagnostic persistence was defined as having met the full criteria for ADHD on second evaluation. Symptom severity of ADHD was determined using the Turgay DSM-IV-based Child and Adolescent Behavior Disorders Screening and Rating Scale-Parents Form (T-DSM-IV-S). Intelligence level was assessed through the Wechsler Intelligence Scale for Children-Revised. Of the children included in the study, 77.5% (n = 110) were determined to have ADHD diagnostic persistence. Low intelligence levels, younger age and higher T-DSM-IV-S inattention and conduct disorder scores were associated with diagnostic persistence. ADHD diagnosis in children and adolescents tends to continue at high rates. Determination of the risks related to ADHD diagnostic persistence may contribute to improved treatment planning and interventions.

  6. Factitious disorders and malingering: challenges for clinical assessment and management.

    PubMed

    Bass, Christopher; Halligan, Peter

    2014-04-19

    Compared with other psychiatric disorders, diagnosis of factitious disorders is rare, with identification largely dependent on the systematic collection of relevant information, including a detailed chronology and scrutiny of the patient's medical record. Management of such disorders ideally requires a team-based approach and close involvement of the primary care doctor. As deception is a key defining component of factitious disorders, diagnosis has important implications for young children, particularly when identified in women and health-care workers. Malingering is considered to be rare in clinical practice, whereas simulation of symptoms, motivated by financial rewards, is regarded as more common in medicolegal settings. Although psychometric investigations (eg, symptom validity testing) can inform the detection of illness deception, such tests need support from converging evidence sources, including detailed interview assessments, medical notes, and relevant non-medical investigations. A key challenge in any discussion of abnormal health-care-seeking behaviour is the extent to which a person's reported symptoms are considered to be a product of choice, or psychopathology beyond volitional control, or perhaps both. Clinical skills alone are not typically sufficient for diagnosis or to detect malingering. Medical education needs to provide doctors with the conceptual, developmental, and management frameworks to understand and deal with patients whose symptoms appear to be simulated. Central to the understanding of factitious disorders and malingering are the explanatory models and beliefs used to provide meaning for both patients and doctors. Future progress in management will benefit from an increased appreciation of the contribution of non-medical factors and a greater awareness of the conceptual and clinical findings from social neuroscience, occupational health, and clinical psychology.

  7. Assessment of physical etiologies for mood and anxiety disorders in structured diagnostic interviews.

    PubMed

    Patten, Scott B; Williams, Jeanne V A

    2007-06-01

    Structured diagnostic inter- views include items that evaluate physical etiologies for mood and anxiety disorders. The objective of this article was to assess the impact of such items. A mental health survey in Canada collected data from n = 36,984 household residents. The lifetime prevalence of mood and anxiety disorders was calculated with and without exclusions due to physical causes. Approximately 10% of subjects with a lifetime depressive disorder reported that all of their episodes were due to one or more physical cause. Many of the reported etiologies were implausible given the DSM-IV requirement that the disturbance be a "direct physiological consequence" of the physical cause. The results were similar for manic episodes and anxiety disorders. Structured diagnostic interviews assess physical etiologies in ways that are subject to inconsistency and inaccuracy. Physical etiology items may bias estimates by introducing etiological opinions into the assessment of disorder frequency.

  8. Yin Yang dynamic neurobiological modeling and diagnostic analysis of major depressive and bipolar disorders.

    PubMed

    Zhang, Wen-Ran; Pandurangi, Anand K; Peace, Karl E

    2007-10-01

    Since millions suffer from major depressive and bipolar disorders, the modeling, characterization, classification, and diagnostic analysis of such mental disorders bear great significance in medical and pharmaceutical research. YinYang bipolar sets are introduced for neurobiological modeling and diagnostic analysis of such disorders. It is shown that bipolar sets and a bipolar dynamic modus ponens (BDMP) build a technological bridge from a linear, static, and closed world to a nonlinear, dynamic, and open world of equilibria, quasi-equilibria, or nonequilibria and provide a novel model for bipolar neurobiological diagnostic analysis with added rigor to the current standard. It is shown that bipolar inference can help in understanding both the classic manifestations and the counterintuitive symptoms of bipolar disorders with applications in clinical psychopharmacology. Mathematical and visual characterizations of core features of such disorders are presented. A unified diagnosis and outcome model of different treatments are presented for different types of bipolar disorders. The significance and novelty of this work is twofold: (1) it introduces YinYang into biomedicine for the understanding of certain neurobiological disorders and fosters a new standard model for clinical, therapeutic, and pharmacological research and applications; (2) it presents a mathematical basis for the characterization of mood regulation in individuals and/or a cohort of patients with applications in biomedical engineering and potential applications in nanotechnologies for integrated care of major depressive and bipolar disorders.

  9. 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

  10. Panic disorder and social anxiety disorder subtypes in a caffeine challenge test.

    PubMed

    Nardi, Antonio E; Lopes, Fabiana L; Freire, Rafael C; Veras, Andre B; Nascimento, Isabella; Valença, Alexandre M; de-Melo-Neto, Valfrido L; Soares-Filho, Gastão L; King, Anna Lucia; Araújo, Daniele M; Mezzasalma, Marco A; Rassi, Arabella; Zin, Walter A

    2009-09-30

    Studies have demonstrated the vulnerability of anxiety disorder patients to challenge tests. Our aim was to observe if panic disorder (PD) patients and generalized social anxiety disorder (GSAD) and performance social anxiety disorder (PSAD) patients respond in a similar way to the induction of anxiety symptoms and panic attacks by an oral caffeine challenge test. We compared 28 PD patients, 25 GSAD patients, 19 PSAD, and 26 control subjects after a 480-mg caffeine test. The patients had not received psychotropic drugs for at least a 4-week period. In a randomized double-blind experiment performed in two occasions 7 days apart, 480 mg of caffeine and a caffeine-free solution were administered and anxiety scales were administered before and after each test. A panic attack was induced in 17 (60.7%) PD patients, 4 (16.0%) GSAD patients, and 10 (52.6%) PSAD patients, during the caffeine test. None of the control subjects had a panic attack after the caffeine intake. Neither patients nor any control subject had a panic attack after drinking the caffeine-free solution. Our data suggest that there is an association between PD and PSAD hyperreactivity to an oral caffeine challenge test. The PD and PSAD patients had a higher number of induced panic attacks, some specific anxiety symptoms, and a more severe anxiety response than GSAD patients and normal volunteers.

  11. Tissue engineering interventions for esophageal disorders--promises and challenges.

    PubMed

    Kuppan, Purushothaman; Sethuraman, Swaminathan; Krishnan, Uma Maheswari

    2012-01-01

    The diseases of the esophagus include congenital defects like atresia, tracheoesophageal fistula as well as others such as gastro-esophageal reflux disease (GERD), Barrett's esophagus, carcinoma and strictures. All esophageal disorders require surgical intervention and reconstruction with appropriate substitutes. Primary anastomosis is used to treat most cases but treatment of long gap atresia still remains a clinical challenge. Autologous graft therapies using tissues from colon, and small and large intestine or gastric transplantations have been attempted but have constraints like leakage, infection and stenosis at the implanted site, which leads to severe morbidity and mortality. An alternative for autologous grafts are allogenic and xenogenic grafts, which have better availability but disease transmission and immunogenicity limit their applications. Use of biodegradable and biocompatible scaffolds to engineer the esophagus promises to be an effective regenerative strategy for treatment of esophageal disorders. Nanotopography of the fibrous scaffolds mimics the natural extracellular matrix (ECM) of the tissue and incorporation of chemical cues and tailoring mechanical properties provide the right microenvironment for co-culture of different cell types. Scaffolds cultured with esophageal cells (epithelial cells, fibroblast and smooth muscle cells) might show enhancement of the biofunctionality in vivo. This review attempts to address the various strategies and challenges involved in successful tissue engineering of the esophagus. Copyright © 2012 Elsevier Inc. All rights reserved.

  12. 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

  13. Validation of a diagnostic screening blood test for bipolar disorder.

    PubMed

    Woodruff, Douglas B; El-Mallakh, Rif S; Thiruvengadam, Alagu P

    2012-05-01

    Bipolar disorder is difficult to diagnose, and probably is both overdiagnosed and underdiagnosed. Misdiagnosis has deleterious consequences for the prognosis of the disorder. In a previous study (n = 134), measurement of blood cellular membrane potential (expressed as membrane potential ratio [MPR™]) diagnosed bipolar illness with a sensitivity of .78 and a specificity of .88. The current study was performed as a validation of the initial study. We recruited consecutive outpatients with DSM-IV-diagnosed bipolar I disorder (BD I) and those without bipolar illness (n = 153) and measured their MPR™. BD I patients were relatively hyperpolarized, with an MPR™ of .601 (± standard deviation .0179), compared with non-bipolar patients (MPR™ .675 ± .0174). The sensitivity and specificity for BD I are .93 and .90, respectively. Before clinical application, future studies must utilize consensus diagnosis as the "gold standard" diagnosis and examine the effect of mood-stabilizing drugs on MPR™.

  14. Evolution of the diagnostic criteria for degenerative and cognitive disorders

    PubMed Central

    Lopez, Oscar L.; McDade, Eric; Riverol, Mario; Becker, James T.

    2012-01-01

    Purpose of review This review describes the evolution of the clinical criteria for Alzheimer’s disease over the past 25 years, with special emphasis on those recently published that have incorporated the use of biomarkers. Recent findings One of the most important advances in the knowledge of Alzheimer’s disease was the development of cerebrospinal fluid, PET and MRI biomarkers. These have shown that the Alzheimer’s disease is present in cognitively normal individuals, suggesting that there is a long incubation process that precedes the onset of the symptoms. Although there are diagnostic criteria for Alzheimer’s disease, the National Institute on Aging and the Alzheimer’s Association has proposed a set of diagnostic criteria oriented to provide a unified vision of the pathological process from preclinical, to mild cognitive impairment, and to full-blown dementia. These new criteria take advantage of different biomarkers to support the clinical diagnosis of the different stages of the disease. Summary The new guidelines provide a definition of the dementia syndrome and core diagnostic features to be used in research and clinical practice, although they caution about the use of biomarkers, since they still require validation, and the longitudinal interaction and dynamics of these biomarkers in relationship to the manifestation of the symptoms are not fully understood. PMID:22071334

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

  16. 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.

  17. Avoidant/restrictive food intake disorder: a new eating disorder diagnosis in the diagnostic and statistical manual 5.

    PubMed

    Mammel, Kathleen A; Ornstein, Rollyn M

    2017-08-01

    Avoidant/restrictive food intake disorder (ARFID) is a new eating disorder diagnosis in the 5th edition of the diagnostic and statistical manual (DSM-5), published in 2013. The purpose of this review is to describe the creation of ARFID as a diagnostic category, and to explain the DSM-5 diagnostic criteria; to demonstrate what is known thus far about the prevalence of ARFID and characteristics of patients with this disorder; to provide guidance to the pediatrician and other providers on making a diagnosis of ARFID; and to discuss evolving treatment approaches. Several studies have been published recently on the prevalence and characteristics of patients with ARFID. Research has just begun to focus on new assessment measures, approaches to treatment based on established therapies for other eating/psychiatric disorders, and short-term outcomes. Robust treatment studies are in development. The addition of ARFID to the DSM-5 has captured a category of patients with clinically significant restrictive eating, but without weight and shape concerns, who were poorly classified in the past. Future research is needed to further elucidate the presentation, characteristics, diagnostic instruments, and effective management.

  18. Males with eating disorders: challenges for treatment and research.

    PubMed

    Andersen, A E; Holman, J E

    1997-01-01

    Males represent only 10 percent of eating disorder cases. This gender discrepancy is among the most extreme in psychiatry and medicine. Determining what differences in etiology and mechanism best explain the discrepancy presents an intellectual challenge. Beginning at about the third grade, boys and girls diverge in social development. Boys show significantly less desire to lose weight, express dissatisfaction with the upper rather than the lower body, and use dieting to achieve specific external goals rather than as a cultural norm. Males reach a significantly higher body mass index (BMI) than females do before they beginning dieting. (27.2 versus 24.3, p < .01). While overall treatment principles are similar, males in treatment require attainment of a different hormonal milieu (testosterone), attention to past and future sexual role, amelioration of perception of stigma, and preparation for return to male social roles. Males and females suffer comparable degrees of osteopenia and brain shrinkage during anorexia nervosa. The effectiveness of antidepressants in males with eating disorders (compared with that in females) has not been well studied. Male gender is not an adverse factor in short-term or long-term treatment outcome. Understanding the lower frequency of these illnesses in males may lead to more effective means of protecting girls from eating disorders and from the culturally induced distress about normal body size and shape that burdens adolescent development and adult life.

  19. 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.

  20. 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.

  1. 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.

  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.

  3. 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…

  4. 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. © 2015 New York Academy of Sciences.

  5. Otitis media and a neck lump--current diagnostic challenges for Paragonimus-like trematode infections.

    PubMed

    Schuster, H; Agada, F O; Anderson, A R; Jackson, R S; Blair, D; McGann, H; Kelly, G

    2007-02-01

    A 29 year-old Nigerian studying in the UK presented with a neck lump and otitis media. Paragonimus-like trematode eggs were found in the neck lump aspirate. Morphologically these eggs resembled Paragonimus uterobilateralis or Achillurbainia congolensis. We favoured the diagnosis of achillurbainiasis over extrapulmonary paragonimiasis on the basis of clinical features and because we could not amplify DNA sequences using PCR primers specific for Paragonimus species. We discuss current diagnostic challenges for this rare parasitic infection.

  6. Masticatory muscle disorders diagnostic criteria: the American Academy of Orofacial Pain versus the research diagnostic criteria/temporomandibular disorders (RDC/TMD).

    PubMed

    Reiter, S; Goldsmith, C; Emodi-Perlman, A; Friedman-Rubin, P; Winocur, E

    2012-12-01

    In this study, relevant cases were retrospectively reviewed to identify patients who were diagnosed as suffering from myofascial pain only according to the research diagnostic criteria/temporomandibular disorders (RDC/TMD) criteria, in order to examine whether or not they could fulfil the American Academy of Orofacial Pain (AAOP) diagnostic criteria for TMD-related masticatory muscle disorders. One hundred and twenty-seven patients, diagnosed according to the RDC/TMD criteria as having myofascial pain with or without limited jaw opening only, were allocated to two groups according to their answers to the RDC/TMD 'jaw disability checklist'. The two groups were compared for Axis I and II data taken from the RDC/TMD questionnaire. Thirty-eight of the patients (29·9%) did not associate their symptoms with jaw functions (e.g. chewing and yawning). This group was characterised by increased range of motion (ROM) and older average age. The AAOP diagnostic criteria for TMD require pain on function in all subtypes of TMD-related muscle disorders. An association between pain and jaw function is common and research is needed to determine whether this should be categorised differently to muscle pain unrelated to jaw function. There may well be different pathophysiological mechanisms and consequently different management strategies for these two pain conditions.

  7. [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.

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

    PubMed

    Solovyova, M

    2014-12-01

    The article presents the results of the clinical and psychopathological and psychological diagnostic, investigations mental health employees of financial institutions, description and analysis of clinical forms identified disorders.

  9. Relating DSM-5 section II and section III personality disorder diagnostic classification systems to treatment planning.

    PubMed

    Morey, Leslie C; Benson, Kathryn T

    2016-07-01

    Beginning with DSM-III, the inclusion of a "personality" axis was designed to encourage awareness of personality disorders and the treatment-related implications of individual differences, but since that time there is little accumulated evidence that the personality disorder categories provide substantial treatment-related guidance. The DSM-5 Personality and Personality Disorders Work Group sought to develop an Alternative Model for personality disorder, and this study examined whether this model is more closely related to clinicians' decision-making processes than the traditional categorical personality disorder diagnoses. A national sample of 337 clinicians provided complete personality disorder diagnostic information and several treatment-related clinical judgments about one of their patients. The dimensional concepts of the DSM-5 Alternative Model for personality disorders demonstrated stronger relationships than categorical DSM-IV/DSM-5 Section II diagnoses to 10 of 11 clinical judgments regarding differential treatment planning, optimal treatment intensity, and long-term prognosis. The constructs of the DSM-5 Alternative Model for personality disorders may provide more clinically useful information for treatment planning than the official categorical personality disorder diagnostic system retained in DSM-5 Section II. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. 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

  11. [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%).

  12. [Diagnostic features, epidemiology, and pathophysiology of seasonal affective disorder].

    PubMed

    Molnár, Eszter; Gonda, Xénia; Rihmer, Zoltán; Bagdy, György

    2010-01-01

    Seasonal Affective Disorder (SAD) is characterized by patterns of major depressive episodes that occur and remit with the change of seasons. Two seasonal patterns have been identified: summer-type depression with typical depressive signs and symptoms, and winter-type depression with atypical features of depression. In the subsyndromal form of SAD (S-SAD) symptoms are milder, although vegetative symptoms are clinically significant. SAD needs to be differentiated from atypical depression, cyclothymic disorder, and dysthymia or chronic MDD which may be characterized by a winter worsening of symptoms. Full remission of symptoms must occur after the passing of the season for the disorder to merit the diagnosis of SAD. The mean prevalence of SAD in the temperate zone is 3 to 10%, while that of S-SAD is 6 to 20%. In Hungarian general population the occurrence of SAD is 4.6%, and S-SAD is 7.2%. The pathophysiology of SAD seems to be heterogeneous, studies suggest abnormal circadian rhythm and neurotransmitter function (phase shift hypothesis, role of serotonin, dopamin and norepinephrine). Genetic studies focusing on candidate genes involve 5-HTR2A, 5-HTR2C, DRD4, G protein, and clock-related genes.

  13. INCLEN diagnostic tool for attention deficit hyperactivity disorder (INDT-ADHD): development and validation.

    PubMed

    Mukherjee, Sharmila; Aneja, Satinder; Russell, Paul S S; Gulati, Sheffali; Deshmukh, Vaishali; Sagar, Rajesh; Silberberg, Donald; Bhutani, Vinod K; Pinto, Jennifer M; Durkin, Maureen; Pandey, Ravindra M; Nair, M K C; Arora, Narendra K

    2014-06-01

    To develop and validate INCLEN Diagnostic Tool for Attention Deficit Hyperactivity Disorder (INDT-ADHD). Diagnostic test evaluation by cross sectional design. Tertiary care pediatric centers. 156 children aged 65-117 months. After randomization, INDT-ADHD and Connors 3 Parent Rating Scale (C3PS) were administered, followed by an expert evaluation by DSM-IV-TR diagnostic criteria. Psychometric evaluation of diagnostic accuracy, validity (construct, criterion and convergent) and internal consistency. INDT-ADHD had 18 items that quantified symptoms and impairment. Attention deficit hyperactivity disorder was identified in 57, 87 and 116 children by expert evaluation, INDT-ADHD and C3PS, respectively. Psychometric parameters of INDT-ADHD for differentiating attention deficit hyperactivity disorder and normal children were: sensitivity 87.7%, specificity 97.2%, positive predictive value 98.0% and negative predictive value 83.3%, whereas for differentiating from other neuro-developmental disorders were 87.7%, 42.9%, 58.1% and 79.4%, respectively. Internal consistency was 0.91. INDT-ADHD has a 4-factor structure explaining 60.4% of the variance. Convergent validity with Conner's Parents Rating Scale was moderate (r =0.73, P= 0.001). INDT-ADHD is suitable for diagnosing attention deficit hyperactivity disorder in Indian children between the ages of 6 to 9 years.

  14. Diagnostic profiles of adult psychiatric outpatients with and without attention deficit hyperactivity disorder.

    PubMed

    Gorlin, Eugenia I; Dalrymple, Kristy; Chelminski, Iwona; Zimmerman, Mark

    2016-10-01

    Despite growing recognition that attention deficit/hyperactivity disorder (ADHD) is a highly prevalent, impairing, and comorbid disorder that persists into adulthood, reports on the nature and extent of its psychiatric comorbidities have been mixed to date. This study compared the prevalence rates of all major Axis I disorders as well as borderline personality disorder in an unselected sample of adult psychiatric outpatients with and without ADHD. As part of the Rhode Island Methods to Improve Diagnostic Assessment and Services (MIDAS) project, we administered a DSM-IV-based semi-structured diagnostic interview assessing ADHD and other psychiatric disorders to 1134 patients presenting for initial evaluation at an outpatient psychiatric practice. Logistic regression analyses were used to compare the rates of each disorder in patients with versus without an ADHD diagnosis (both overall and by Combined and Inattentive type). Patients with (versus without) any ADHD diagnosis had significantly higher rates of bipolar disorder, social phobia, impulse control disorders, eating disorders, and BPD, and significantly lower rates of major depressive disorder and adjustment disorder (all p<.05). Patients with (versus without) ADHD-Inattentive type had significantly higher rates of social phobia and eating disorders, whereas those with (versus without) the ADHD-Combined type had significantly higher rates of bipolar disorder, alcohol dependence, and BPD (all p<.05). In this novel investigation of the psychiatric profiles of an unselected sample of treatment-seeking adult outpatients with versus without ADHD, a distinct pattern of comorbidities emerged across subtypes, with implications for the accurate assessment and treatment of patients presenting for psychiatric care. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. [Diagnostic validity of attention deficit/hyperactivity disorder: from phenomenology to neurobiology (II)].

    PubMed

    Trujillo-Orrego, Natalia; Ibáñez, Agustín; Pineda, David A

    2012-03-16

    The diagnostic criteria for the attention deficit/hyperactivity disorder (ADHD) were defined by the American Psychiatric Association in the Diagnostic and Statistical Manual of Mental Disorders, fourth version. ADHD is a neuro-psychiatric disorder associated with impairments in everyday life and behavioral dysregulation (i.e. inattention, hyper-activity and impulsivity), and it has showed empirical evidence from clinical, pharmacological, and psychometric studies. Nevertheless, the role of neurobiological impairments in the presentation of the symptoms remains unclear. For this paper, the authors reviewed Spanish and English literature that support the neurobiological validity of the disorder, aimed to present evidence associated with its cognitive and behavioral phenotype (e.g. in: neuropsychology, electrophysiology, structural and functional magnetic resonance imaging, neurochemistry and genetics). Additionally, an integrative theoretical clinical and scientific proposal is presented. Finally, the introduction of neurobiological marker as part of the definitive diagnosis is suggested, as a started point for the identification of therapeutic targets.

  16. Chronic fatigue syndrome and sleep disorders: clinical associations and diagnostic difficulties.

    PubMed

    Ferré, A

    2016-02-11

    Chronic fatigue syndrome (CFS) is characterised by the presence of intractable fatigue and non-restorative sleep, symptoms which are also very prevalent in multiple diseases and appear as side effects of different drugs. Numerous studies have shown a high prevalence of sleep disorders in patients with CFS. However, non-restorative sleep and fatigue are frequently symptoms of the sleep disorders themselves, so primary sleep disorders have to be ruled out in many cases of CFS. This review was performed using a structured search of the MeSH terms ([Sleep]+[Chronic fatigue syndrome]) in the PubMed database. Identifying primary sleep disorders in patients meeting diagnostic criteria for CFS will allow for a more comprehensive treatment approach involving new diagnostic and therapeutic strategies that may improve quality of life for these patients. Copyright © 2016 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  17. Translating Research to Practice for Children With Autism Spectrum Disorder: Part I: Definition, Associated Behaviors, Prevalence, Diagnostic Process, and Interventions.

    PubMed

    Johnson, Norah L; Burkett, Karen; Reinhold, Judy; Bultas, Margaret W

    2016-01-01

    The number of children with autism spectrum disorder (ASD) is rising, along with the potential for challenging behaviors during health care encounters. We present an overview of the emerging science related to ASD diagnosis and interventions for children with ASD. Emerging science on ASD reveals common associated challenging behaviors, increasing prevalence, emphasis on early diagnosis at 18 to 24 months of age, changes in the diagnostic process with criteria from the Diagnostic and Statistical Manual of Mental Disorders, 5th edition, and interventions with medication, education, and behavior management. Family and health care provider preparation strategies facilitate care of children with ASD and their families. Early diagnosis at 18 to 24 months of age and evidence-based interventions contribute to best outcomes for children and families. Health care providers must be aware of the state of the science for diagnosis and best practices to provide family-centered care for this growing population. Copyright © 2016 National Association of Pediatric Nurse Practitioners. Published by Elsevier Inc. All rights reserved.

  18. 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

  19. Pre-Diagnostic and Diagnostic Stages of Autism Spectrum Disorder: A Parent Perspective

    ERIC Educational Resources Information Center

    Wong, Venus; Yu, Yue; Keyes, Melissa L.; McGrew, John H.

    2017-01-01

    This study examined the experiences of parents receiving an autism spectrum disorder (ASD) diagnosis for their child. Mixed methods were used to give a detailed account of the sequence of events, parents' experiences and actions associated with the ASD diagnosis. Parents waited nearly two and a half years (mean = 28.72 months) before receiving the…

  20. Diagnostic imaging of the equine fetlock region using radiography and ultrasonography. Part 2: the bony disorders.

    PubMed

    Vanderperren, Katrien; Saunders, Jimmy H

    2009-08-01

    The metacarpophangeal/metatarsophalangeal (fetlock) joint in the horse is commonly associated with equine lameness and diagnostic imaging is routinely used to investigate disorders of the joint and its surrounding tissues. This review describes the osseous disorders of the fetlock as well as the technical aspects of taking radiographic and ultrasonographic images of the different lesions. In current clinical practice, a combination of radiography and ultrasonography is still the most frequently used approach to arrive at a diagnosis.

  1. [Dissociation (conversion) - malingering - antisocial personality disorder: differential diagnostic reflection on the basis of a case study].

    PubMed

    Rothuber, Helfried; Mitterauer, Bernhard

    2011-01-01

    In this case report we refer to the big challenge of making a diagnosis in a deliberate malingering in the field of mental disorders. We specifically describe the difficulty regarding the differentiation between a conversion disorder and malingering of a serial delinquent. For such a person avoiding criminal persecution is one of the most frequent reason to deceitfully simulate a mental illness. In this field, symptoms of conversion disorders exceed the average; furthermore, a great number of organic-neurological illnesses may appear to be very similar to a conversion disorder or in many cases a neurological disorder can actually be detected in the course of a somatic examination. A further obstacle for the differential diagnosis can be seen in the difficulty to discern it from factitious disorders. However, it is quite possible to discern the deliberate malingering of a mental disorder from a conversion disorder by means of the diligent diagnosis of a competent and experienced doctor/assessor who specialises.

  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. 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.

  4. Androgenic disorders of women: diagnostic and therapeutic decision making.

    PubMed

    Redmond, G P

    1995-01-16

    Women with androgenic disorders usually seek medical attention to ameliorate the effects of androgens on appearance or on fertility, less commonly for oligomenorrhea or for prevention of metabolic complications. These conditions affect at least 5-10% of women and can be very disturbing to the affected woman. Careful attention to possible androgenic changes is necessary when performing physical examination because changes are often concealed. Treatment for skin and hair changes depends less on the nature of the changes than on the underlying endocrine causation. The two endocrine factors are androgen levels and receptor sensitivity. The latter is a factor in all androgenic changes, and therapy is rarely successful without use of medication to block androgen receptors. If androgen levels are even minimally elevated, suppression of the source gland--ovary or adrenal--is appropriate. Ovarian suppression is usually by means of an oral contraceptive; for adrenal suppression, a glucocorticoid is effective. Response to medical therapy of androgenic disorders is slow; physicians and patients must be willing to wait weeks, or months, for the beginning of improvement. Endocrine therapy does not seem to help associated diabetes or dyslipidemia. Overall, medical therapy of androgenic disorders is more effective than generally recognized. The principal pitfalls are failing to select medication based on the specific endocrine disturbance and failing to wait long enough for improvement to appear. Side effects do occur but are generally uncomfortable or inconvenient rather than dangerous. Treatment is highly rewarding, however, for there are few situations in medicine in which treatment is so appreciated by the patient.

  5. 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

  6. Early motor delays as diagnostic clues in autism spectrum disorder.

    PubMed

    Harris, Susan R

    2017-06-28

    Early identification of autism facilitates referral for early intervention services, shown to be effective in enhancing parent-child interaction as well as adaptive behavior, communication, and socialization. Traditional hallmarks for the diagnosis of autism spectrum disorder (ASD) include deficits in social communication and social interaction as well as stereotypic or repetitive behavioral patterns. Research during the past decade suggests that developmental motor delays during early childhood may also be important predictors of this difficult-to-make diagnosis. The purpose of this short communication is to describe specific research findings about developmental motor delays and other neuromotor concerns that may contribute to the early diagnosis of ASD and thus hasten referral for early therapeutic intervention. In that there is reasonable consensus that motor delays during the first year of life may represent a prodrome of ASD, pediatricians should not rule out the possibility of ASD in infants with concerning motor behaviors. What is Known: • Early identification of autism facilitates referral for early intervention services. • Traditional hallmarks for diagnosis of autism spectrum disorder (ASD) include deficits in social communication and social interaction as well as repetitive patterns of behavior. What is New: • Recent research suggests that developmental motor delays during early childhood may also be important predictors of ASD. • Pediatricians should consider the possibility of ASD in infants with motor delays or other concerning motor behaviors.

  7. Hereditary red cell membrane disorders and laboratory diagnostic testing.

    PubMed

    King, M-J; Zanella, A

    2013-06-01

    This overview describes two groups of nonimmune hereditary hemolytic anemias caused by defects in membrane proteins located in distinct layers of the red cell membrane. Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary pyropoikilocytosis (HPP) represent disorders of the red cell cytoskeleton. Hereditary stomatocytoses represents disorders of cation permeability in the red cell membrane. The current laboratory screening tests for HS are the osmotic fragility test, acid glycerol lysis time test (AGLT), cryohemolysis test, and eosin-5'-maleimide (EMA)-binding test. For atypical HS, SDS-polyacrylamide gel electrophoresis of erythrocyte membrane proteins is carried out to confirm the diagnosis. The diagnosis of HE/HPP is based on abnormal red cell morphology and the detection of protein 4.1R deficiency or spectrin variants using gel electrophoresis. None of screening tests can detect all HS cases. Some testing centers (a survey of 25 laboratories) use a combination of tests (e.g., AGLT and EMA). No specific screening test for hereditary stomatocytoses is available. The preliminary diagnosis is based on presenting a compensated hemolytic anemia, macrocytosis, and a temperature or time dependent pseudohyperkalemia in some patients. Both the EMA-binding test and the osmotic fragility test may help in differential diagnosis of HS and hereditary stomatocytosis.

  8. Is a diagnostic category for paraphilic coercive disorder defensible?

    PubMed

    Knight, Raymond A

    2010-04-01

    There is a proposal to establish a paraphilic coercive disorder as a new paraphilia in the DSM-V. The empirical data do not, however, support the hypothesis that a distinct syndrome exists that comprises males who are sexually aroused by the coercive elements of rape per se. Purported evidence for this syndrome has centered on the results of phallometric studies. Higher plethysmographic responses of rapists to coercive rape scenarios may, however, be better explained by the failure of coercive elements to inhibit arousal to sexual aspects of the stimuli rather than by arousal specifically to the coercive elements. In addition, sexual fantasies about forcing sex and about struggling victims are highly correlated with sadistic fantasies and have not been shown to identify a syndrome that can be discriminated from sadism. Finally, taxometric evidence strongly supports the hypothesis that the underlying components of rape are distributed as dimensions and do not constitute a separate taxon. Consequently, the criteria purported to categorize rapists into the proposed syndrome would have to be arbitrarily determined. Not only does there seem to be little empirical justification for the creation of this new syndrome, the inclusion of this disorder among the paraphilias would have serious potential for misuse. It would imply endorsement of Paraphilia, NOS, nonconsent, which is currently inappropriately employed in civil commitment proceedings to justify commitment.

  9. Quality of Diagnosis and Treatment Plans After Using the 'Diagnostic Guideline for Anxiety and Challenging Behaviours' in People with Intellectual Disabilities: A Comparative Multiple Case Study Design.

    PubMed

    Pruijssers, Addy; van Meijel, Berno; Maaskant, Marian; Keeman, Noortje; van Achterberg, Theo

    2016-07-01

    People with intellectual disabilities often have a multitude of concurrent problems due to the combination of cognitive impairments, psychiatric disorders (particularly anxiety) and related challenging behaviours. Diagnoses in people with intellectual disabilities are complicated. This study evaluates the quality of the diagnoses and treatment plans after using a guideline that was developed to support professionals in their diagnostic tasks. A comparative multiple case study with an experimental and control condition, applying deductive analyses of diagnoses and treatment plans. The analyses revealed that the number of diagnostic statements and planned treatment actions in the experimental group was significantly larger and more differentiated than in the control condition. In the control group, consequential harm and protective factors were hardly mentioned in diagnoses and treatment plans. Working with the 'Diagnostic Guideline for Anxiety and CB' leads to improved diagnoses and treatment plans compared with care as usual. © 2015 John Wiley & Sons Ltd.

  10. DSM-5's posttraumatic stress disorder with dissociative symptoms: challenges and future directions.

    PubMed

    Dorahy, Martin J; van der Hart, Onno

    2015-01-01

    The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, formally recognizes a dissociative subtype of posttraumatic stress disorder (PTSD; PTSD with dissociative symptoms). This nomenclative move will boost empirical and theoretical efforts to further understand the links between dissociation, trauma, and PTSD. This article examines the empirical literature showing that patients with PTSD can be divided into 2 different groups based on their neurobiology, psychological symptom profile, history of exposure to early relational trauma, and depersonalization/derealization symptoms. It then explores the conceptual and empirical challenges of conceiving 1 of these types as reflecting a "dissociative" type of PTSD. First, this classification is based on the presence of a limited subset of dissociative symptoms (i.e., depersonalization, derealization). This sets aside an array of positive and negative psychoform and somatoform dissociative symptoms that may be related to PTSD. Second, empirical evidence suggests heightened dissociation in PTSD compared to many other disorders, indicating that dissociation is relevant to PTSD more broadly rather than simply to the so-called dissociative subtype. This article sets out important issues to be examined in the future study of dissociation in PTSD, which needs to be informed by solid conceptual understandings of dissociation.

  11. Diagnostic Efficiency of DSM-IV Criteria for Borderline Personality Disorder: An Evaluation in Hispanic Men and Women with Substance Use Disorders

    ERIC Educational Resources Information Center

    Grilo, Carlos M.; Becker, Daniel F.; Anez, Luis Miguel; McGlashan, Thomas H.

    2004-01-01

    This study examined diagnostic efficiency of Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV), criteria for borderline personality disorder (BPD). One hundred thirty monolingual Hispanic adults (90 men, 40 women) at an outpatient psychiatric and substance abuse clinic were assessed with the Spanish-Language Version of…

  12. Diagnostic Efficiency of DSM-IV Criteria for Borderline Personality Disorder: An Evaluation in Hispanic Men and Women with Substance Use Disorders

    ERIC Educational Resources Information Center

    Grilo, Carlos M.; Becker, Daniel F.; Anez, Luis Miguel; McGlashan, Thomas H.

    2004-01-01

    This study examined diagnostic efficiency of Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV), criteria for borderline personality disorder (BPD). One hundred thirty monolingual Hispanic adults (90 men, 40 women) at an outpatient psychiatric and substance abuse clinic were assessed with the Spanish-Language Version of…

  13. Attention-deficit/hyperactivity disorder in young children: predictors of diagnostic stability.

    PubMed

    Law, Evelyn C; Sideridis, Georgios D; Prock, Lisa Albers; Sheridan, Margaret A

    2014-04-01

    The goals of this study were (1) to provide estimates of diagnostic stability for a sample of young children diagnosed with attention-deficit/hyperactivity disorder (ADHD) after undergoing comprehensive multidisciplinary assessments and (2) to identify baseline child and family characteristics that predict diagnostic stability over time. Children aged 3 to 6 years, 11 months consecutively diagnosed with ADHD after multidisciplinary consultations at a tertiary care clinic between 2003 and 2008 were recontacted in 2012 and 2013 (N = 120). At follow-up, the primary outcome was the proportion of children who continued to meet diagnostic criteria for ADHD. To identify predictors of diagnostic stability, logistic regression models were used. In addition, a latent class model was used to independently classify subjects into distinct clusters. In this cohort, 70.4% of the children contacted at follow-up continued to meet diagnostic criteria for ADHD. Predictors of diagnostic stability included externalizing and internalizing symptoms at baseline, parental history of psychopathology, and family socioeconomic status. The latent class model independently identified 3 distinct profiles: (1) children who no longer met ADHD criteria; (2) children with persistent ADHD and high parental psychopathology; and (3) children with persistent ADHD and low family socioeconomic status. Young children who underwent comprehensive developmental and psychological assessments before receiving an ADHD diagnosis, had higher rates of diagnostic stability than in previous studies of community samples. Child and family factors that predict diagnostic stability have the potential to guide treatment planning for children diagnosed with ADHD before 7 years of age.

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

    PubMed Central

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

    2013-01-01

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

  15. The structured diagnostic interview for sleep patterns and disorders: rationale and initial evaluation.

    PubMed

    Merikangas, K R; Zhang, J; Emsellem, H; Swanson, S A; Vgontzas, A; Belouad, F; Blank, M M; Chen, W; Einen, M; He, J P; Heaton, L; Nakamura, E; Rooholamini, S; Mignot, E

    2014-05-01

    We aimed to describe and report the initial validity of a newly developed structured interview for sleep disorders (Diagnostic Interview for Sleep Patterns and Disorders [DISP]) administered by trained lay interviewers. A total of 225 patients with various sleep disorders were recruited from two nationally recognized sleep centers in the United States. The International Classification of Sleep Disorders, second edition (ICSD-2) criteria, were used to classify sleep disorders (e.g., delayed sleep phase disorder, hypersomnia, narcolepsy with cataplexy [NC], restless legs syndrome [RLS], periodic limb movement disorder [PLMD], insomnia, rapid eye movement sleep behavior disorder [RBD], and obstructive sleep apnea [OSA]). Interview diagnoses were compared with final diagnoses by sleep specialists (reference diagnosis based on clinical history, examination, and polysomnography [PSG] when indicated). DISP diagnoses had fair to substantial concordance with clinician diagnoses for various sleep disorders, with area under the receiver operator characteristic curves (AUC) ranging from 0.65 to 0.84. Participants classified by the clinician as having a sleep disorder were moderately well-detected (sensitivity ranging from 0.50 for RBD disorder to 0.87 for insomnia). Substantial specificity (>0.8) also was seen for five of the eight sleep disorders (i.e., delayed sleep phase, hypersomnia, NC, PLMD, and RBD). Interviews were more likely than clinicians to detect disorders secondary to the primary sleep problem. The DISP provides an important tool for the detection of a wide range of sleep disorders in clinical settings and is particularly valuable in the detection of secondary disorders that were not the primary referral diagnosis. Copyright © 2014 Elsevier B.V. All rights reserved.

  16. The "Diagnostic and Statistical Manual of Mental Disorders" in Graduate Social Work Education: Then and Now

    ERIC Educational Resources Information Center

    Newman, Bernie S.; Dannenfelser, Paul L.; Clemmons, Valarie

    2007-01-01

    Social workers recognize the necessity of using the "Diagnostic and Statistical Manual of Mental Disorders" ("DSM"; American Psychiatric Association) but question its compatibility with social work education. The data in this study were compared with the data from P. R. Raffoul and K. A. Holmes (1986) regarding the extent to which the "DSM" was…

  17. Test Review: Brown Attention-Deficit Disorder Scales and Brown ADD Diagnostic Forms.

    ERIC Educational Resources Information Center

    Muniz, Linda

    1996-01-01

    This article on the Brown Attention-Deficit Disorder (ADD) Scale for Adolescents and the Brown ADD Scale for Adults describes the tests' recommended uses, administration, components, standardization, reliability, and validity. The self-report measures are designed for initial screening, as one part of a comprehensive diagnostic assessment, and for…

  18. Validity of the Diagnostic Category of Attention Deficit Disorder without Hyperactivity: A Review of the Literature.

    ERIC Educational Resources Information Center

    Lahey, Benjamin B.; Carlson, Caryn L.

    1991-01-01

    The literature review finds valid the distinction within the diagnostic category of Attention Deficit Disorder (ADD) of either the presence or absence of hyperactivity. ADD children without hyperactivity exhibit less serious conduct problems, are less impulsive, less rejected by peers, but more socially withdrawn, and more likely to exhibit…

  19. 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…

  20. 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…

  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. 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…

  3. Agreement among Four Diagnostic Instruments for Autism Spectrum Disorders in Toddlers

    ERIC Educational Resources Information Center

    Ventola, Pamela E.; Kleinman, Jamie; Pandey, Juhi; Barton, Marianne; Allen, Sarah; Green, James; Robins, Diana; Fein, Deborah

    2006-01-01

    Autistic spectrum disorders (ASD) can be difficult to diagnose in toddlers. This study compared diagnostic measures (ADOS-G, ADI-R, CARS, and clinical judgment using DSM-IV criteria) applied to toddlers. Results indicated that the ADOS-G, CARS, and clinical judgment agreed with each other but not with the ADI-R. Many of the children classified…

  4. The Swedish Version of the Diagnostic Interview for Social and Communication Disorders (DISCO-10). Psychometric Properties

    ERIC Educational Resources Information Center

    Nygren, Gudrun; Hagberg, Bibbi; Billstedt, Eva; Skoglund, Asa; Gillberg, Christopher; Johansson, Maria

    2009-01-01

    Psychometric properties of the Diagnostic Interview for Social and Communication Disorders schedule (DISCO) have only been studied in the UK. The authorised Swedish translation of the tenth version of the DISCO (DISCO-10) was used in interviews with close relatives of 91 Swedish patients referred for neuropsychiatrical assessment. Validity…

  5. 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…

  6. The "Diagnostic and Statistical Manual of Mental Disorders" in Graduate Social Work Education: Then and Now

    ERIC Educational Resources Information Center

    Newman, Bernie S.; Dannenfelser, Paul L.; Clemmons, Valarie

    2007-01-01

    Social workers recognize the necessity of using the "Diagnostic and Statistical Manual of Mental Disorders" ("DSM"; American Psychiatric Association) but question its compatibility with social work education. The data in this study were compared with the data from P. R. Raffoul and K. A. Holmes (1986) regarding the extent to which the "DSM" was…

  7. 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…

  8. 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…

  9. Brief Report: An Exploratory Study of the Diagnostic Reliability for Autism Spectrum Disorder

    ERIC Educational Resources Information Center

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

    2017-01-01

    Previous research shows inconsistency in clinician-assigned diagnoses of Autism Spectrum Disorder (ASD). We conducted an exploratory study that examined the concordance of diagnoses between a multidisciplinary assessment team and a range of independent clinicians throughout Australia. Nine video-taped Autism Diagnostic Observation Schedule (ADOS)…

  10. Autism and Autism Spectrum Disorders: Diagnostic Issues for the Coming Decade

    ERIC Educational Resources Information Center

    Volkmar, Fred R.; State, Matthew; Klin, Ami

    2009-01-01

    A decade and a half have elapsed since DSM-IV and ICD-10 appeared. During this time the convergent definitions of autism and related disorders in these two diagnostic systems have stimulated tremendous research. In this brief review we summarize areas of progress and continuing controversy, including approaches to diagnosis in more cognitively…

  11. 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…

  12. Cholinergic drugs as diagnostic and therapeutic tools in affective disorders.

    PubMed

    Berger, M; Riemann, D; Krieg, C

    1991-01-01

    The hypothesis of a significant involvement of the cholinergic system in the pathogenesis of affective disorders still lacks strong experimental support. This is mainly because of missing specific peripheral markers of the central nervous activity of the cholinergic system and the lack of specific cholinergic agonists and antagonists without severe peripheral side effects. As the direct cholinergic agonist RS 86 seems to be more suitable because of its minor side effects, long half-life and oral applicability, it was tested for its antimanic property and its effect on the hypothalamo-pituitary adrenal system and the rapid eye movement (REM) sleep-generating system. RS 86 exhibited antimanic and REM sleep-inducing properties, but failed to stimulate the cortisol system.

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

    PubMed

    Karukivi, Max; Vahlberg, Tero; Horjamo, Kalle; Nevalainen, Minna; Korkeila, Jyrki

    2017-01-14

    Current categorical classification of personality disorders has been criticized for overlooking the dimensional nature of personality and that it may miss some sub-threshold personality disturbances of clinical significance. We aimed to evaluate the clinical importance of these conditions. For this, we used a simple four-level dimensional categorization based on the severity of personality disturbance. The sample consisted of 352 patients admitted to mental health services. All underwent diagnostic assessments (SCID-I and SCID-II) and filled in questionnaires concerning their social situation and childhood adversities, and other validated tools, including the Beck Depression Inventory (BDI), Alcohol Use Disorders Identification Test (AUDIT), health-related quality of life (15D), and the five-item Mental Health Index (MHI-5). The patients were categorized into four groups according to the level of personality disturbance: 0 = No personality disturbance, 1 = Personality difficulty (one criterion less than threshold for one or more personality disorders), 2 = Simple personality disorder (one personality disorder), and 3 = Complex/Severe personality disorder (two or more personality disorders or any borderline and antisocial personality disorder). The proportions of the groups were as follows: no personality disturbance 38.4% (n = 135), personality difficulty 14.5% (n = 51), simple personality disorder 19.9% (n = 70), and complex/severe personality disorder 24.4% (n = 86). Patients with no personality disturbance were significantly differentiated (p < 0.05) from the other groups regarding the BDI, 15D, and MHI-5 scores as well as the number of Axis I diagnoses. Patients with complex/severe personality disorders stood out as being worst off. Social dysfunction was related to the severity of the personality disturbance. Patients with a personality difficulty or a simple personality disorder had prominent symptoms and difficulties, but

  14. 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…

  15. An Investigation of Diagnostic Accuracy and Confidence Associated with Diagnostic Checklists as Well as Gender Biases in Relation to Mental Disorders

    PubMed Central

    Cwik, Jan C.; Papen, Fabienne; Lemke, Jan-Erik; Margraf, Jürgen

    2016-01-01

    This study examines the utility of checklists in attaining more accurate diagnoses in the context of diagnostic decision-making for mental disorders. The study also aimed to replicate results from a meta-analysis indicating that there is no association between patients’ gender and misdiagnoses. To this end, 475 psychotherapists were asked to judge three case vignettes describing patients with Major Depressive Disorder (MDD), Generalized Anxiety Disorder, and Borderline Personality Disorder. Therapists were randomly assigned to experimental conditions in a 2 (diagnostic method: with using diagnostic checklists vs. without using diagnostic checklists) × 2 (gender: male vs. female case vignettes) between-subjects design. Multinomial logistic and linear regression analyses were used to examine the association between the usage of diagnostic checklists as well as patients’ gender and diagnostic decisions. The results showed that when checklists were used, fewer incorrect co-morbid diagnoses were made, but clinicians were less likely to diagnose MDD even when the criteria were met. Additionally, checklists improved therapists’ confidence with diagnostic decisions, but were not associated with estimations of patients’ characteristics. As expected, there were no significant associations between gender and diagnostic decisions. PMID:27920738

  16. Convergent Validity of the Autism Spectrum Disorder-Diagnostic for Children (ASD-DC) and Autism Diagnostic Interview-Revised (ADI-R)

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Hess, Julie A.; Mahan, Sara; Fodstad, Jill C.

    2010-01-01

    The purpose of this paper was to further establish the validity of the Autism Spectrum Disorder-Diagnostic for Children (ASD-DC). The methodology consisted of testing the similarity of findings between the ASD-DC and the Autism Diagnostic Interview-Revised (ADI-R), which proved to be statistically significant for subscale content scores on social,…

  17. 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…

  18. 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.…

  19. 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…

  20. 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.…

  1. [Primary malignant melanoma of the central nervous system: A diagnostic challenge].

    PubMed

    Quillo-Olvera, Javier; Uribe-Olalde, Juan Salvador; Alcántara-Gómez, Leopoldo Alberto; Rejón-Pérez, Jorge Dax; Palomera-Gómez, Héctor Guillermo

    2015-01-01

    The rare incidence of primary malignant melanoma of the central nervous system and its ability to mimic other melanocytic tumors on images makes it a diagnostic challenge for the neurosurgeon. A 51-year-old patient, with a tumor located in the right forniceal callosum area. Total surgical excision was performed. Histopathological result was consistent with the diagnosis of primary malignant melanoma of the central nervous system, after ruling out extra cranial and extra spinal melanocytic lesions. The primary malignant melanoma of the central nervous system is extremely rare. There are features in magnetic resonance imaging that increase the diagnostic suspicion; nevertheless there are other tumors with more prevalence that share some of these features through image. Since there is not an established therapeutic standard its prognosis is discouraging. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

  2. 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.

  3. Gender Bias in Diagnostic Criteria for Personality Disorders: An Item Response Theory Analysis

    PubMed Central

    Jane, J. Serrita; Oltmanns, Thomas F.; South, Susan C.; Turkheimer, Eric

    2015-01-01

    The authors examined gender bias in the diagnostic criteria for Diagnostic and Statistical Manual of Mental Disorders (4th ed., text revision; American Psychiatric Association, 2000) personality disorders. Participants (N = 599) were selected from 2 large, nonclinical samples on the basis of information from self-report questionnaires and peer nominations that suggested the presence of personality pathology. All were interviewed with the Structured Interview for DSM–IV Personality (B. Pfohl, N. Blum, & M. Zimmerman, 1997). Using item response theory methods, the authors compared data from 315 men and 284 women, searching for evidence of differential item functioning in the diagnostic features of 10 personality disorder categories. Results indicated significant but moderate measurement bias pertaining to gender for 6 specific criteria. In other words, men and women with equivalent levels of pathology endorsed the items at different rates. For 1 paranoid personality disorder criterion and 3 antisocial criteria, men were more likely to endorse the biased items. For 2 schizoid personality disorder criteria, women were more likely to endorse the biased items. PMID:17324027

  4. Gender bias in diagnostic criteria for personality disorders: an item response theory analysis.

    PubMed

    Jane, J Serrita; Oltmanns, Thomas F; South, Susan C; Turkheimer, Eric

    2007-02-01

    The authors examined gender bias in the diagnostic criteria for Diagnostic and Statistical Manual of Mental Disorders (4th ed., text revision; American Psychiatric Association, 2000) personality disorders. Participants (N=599) were selected from 2 large, nonclinical samples on the basis of information from self-report questionnaires and peer nominations that suggested the presence of personality pathology. All were interviewed with the Structured Interview for DSM-IV Personality (B. Pfohl, N. Blum, & M. Zimmerman, 1997). Using item response theory methods, the authors compared data from 315 men and 284 women, searching for evidence of differential item functioning in the diagnostic features of 10 personality disorder categories. Results indicated significant but moderate measurement bias pertaining to gender for 6 specific criteria. In other words, men and women with equivalent levels of pathology endorsed the items at different rates. For 1 paranoid personality disorder criterion and 3 antisocial criteria, men were more likely to endorse the biased items. For 2 schizoid personality disorder criteria, women were more likely to endorse the biased items.

  5. 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

  6. 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

  7. 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. © The Author(s) 2015.

  8. Narcolepsy Type 1 and Idiopathic Generalized Epilepsy: Diagnostic and Therapeutic Challenges in Dual Cases

    PubMed Central

    Baiardi, Simone; Vandi, Stefano; Pizza, Fabio; Alvisi, Lara; Toscani, Lucia; Zambrelli, Elena; Tinuper, Paolo; Mayer, Geert; Plazzi, Giuseppe

    2015-01-01

    Study Objectives: The aim of this study is to describe the possible co-occurrence of narcolepsy type 1 and generalized epilepsy, focusing on diagnostic challenge and safety of dual treatments. Methods and Results: Four patients with comorbidity for narcolepsy type 1 and idiopathic generalized epilepsy are reported: in three cases the onset of epilepsy preceded narcolepsy type 1 appearance, whereas in one case epileptic spells onset was subsequent. Patients presented with absences, myoclonic and tonic-clonic seizure type: in the patient with tonic-clonic seizures the dual pathology was easily recognized, in the other cases the first diagnosis caused the comorbid disease to be overlooked, independent of the time-course sequence. All four patients underwent neurological examination, video-electroencephalogram during which ictal and interictal epileptic discharges were recorded, and sleep polysomnographic studies. Repeated sleep onset rapid eye movement periods (SOREMPs) were documented with the multiple sleep latency test (MLST) in all the four cases. All patients had unremarkable brain magnetic resonance imaging studies and cerebrospinal hypocretin-1 was assessed in two patients, revealing undetectable levels. The association of antiepileptic drugs and substances currently used to treat narcolepsy type 1, including sodium oxybate, was effective in improving seizures, sleep disturbance, and cataplexy. Conclusions: Narcolepsy type 1 may occur in association with idiopathic generalized epilepsy, leading to remarkable diagnostic and therapeutic challenges. Electrophysiological studies as well as a comprehensive somnologic interview can help confirm the diagnosis in patients with ambiguous neurological history. Sodium oxybate in combination with antiepileptic drugs is safe and effective in treating cataplexy and excessive daytime sleepiness. Citation: Baiardi S, Vandi S, Pizza F, Alvisi L, Toscani L, Zambrelli E, Tinuper P, Mayer G, Plazzi G. Narcolepsy type 1 and

  9. Effects of diagnostic comorbidity and dimensional symptoms of attention-deficit–hyperactivity disorder in men with antisocial personality disorder

    PubMed Central

    Basoglu, Cengiz; Oner, Ozgur; Munir, Kerim M.; Ates, Alpay; Algul, Ayhan; Ebrinc, Servet; Cetin, Mesut

    2011-01-01

    Objective Although children with attention deficit hyperactivity disorder (ADHD) are at increased risk for later onset of antisocial personality disorder (APD) as adults, the utility of ADHD as either a comorbid diagnosis (ADHDc) or dimensional symptoms (ADHDd) in predicting behaviour and substance use problems in APD subjects has not been examined. Method A total of 105 adult male offenders with Structured Clinical Interview for Axis II Disorders (SCID-II)-based DSM-III-R APD were studied in terms of: (i) psychopathy scores on the Hare Psychopathy Checklist–Revised (PCL-R); (ii) ADHDc diagnostic comorbidity on clinically administered DSM-IV questionnaire; and (iii) ADHDd dimensional symptoms by means of Wender Utah Rating Scale (WURS) and Conners Adult ADHD Rating Scale (CAARS) during a 12 month study period (May 2005–May 2006). Results Sixty five per cent of APD subjects met criteria for ADHDc diagnostic comorbidity with significantly increased rates of childhood neglect, parental divorce and suicide attempt, but not of psychopathy. APD subjects with ADHDd symptoms were noted to have earlier onset and increased rate of self-injurious behaviour (SIB), suicide attempt, and psychopathy. The psychopathy scores, in turn, were predictive of earlier onset of SIB and behavioural problems. Conclusion Both ADHDc diagnostic comorbidity and ADHDd symptoms need to be assessed in APD subjects and the dimensional measures may be better in detecting earlier onset SIB, suicide attempt and other behavioural problems. PMID:18473259

  10. Effects of diagnostic comorbidity and dimensional symptoms of attention-deficit-hyperactivity disorder in men with antisocial personality disorder.

    PubMed

    Semiz, Umit B; Basoglu, Cengiz; Oner, Ozgur; Munir, Kerim M; Ates, Alpay; Algul, Ayhan; Ebrinc, Servet; Cetin, Mesut

    2008-05-01

    Although children with attention deficit hyperactivity disorder (ADHD) are at increased risk for later onset of antisocial personality disorder (APD) as adults, the utility of ADHD as either a comorbid diagnosis (ADHD(c)) or dimensional symptoms (ADHD(d)) in predicting behaviour and substance use problems in APD subjects has not been examined. A total of 105 adult male offenders with Structured Clinical Interview for Axis II Disorders (SCID-II)-based DSM-III-R APD were studied in terms of: (i) psychopathy scores on the Hare Psychopathy Checklist-Revised (PCL-R); (ii) ADHD(c) diagnostic comorbidity on clinically administered DSM-IV questionnaire; and (iii) ADHD(d) dimensional symptoms by means of Wender Utah Rating Scale (WURS) and Conners Adult ADHD Rating Scale (CAARS) during a 12 month study period (May 2005-May 2006). Sixty five per cent of APD subjects met criteria for ADHD(c) diagnostic comorbidity with significantly increased rates of childhood neglect, parental divorce and suicide attempt, but not of psychopathy. APD subjects with ADHD(d) symptoms were noted to have earlier onset and increased rate of self-injurious behaviour (SIB), suicide attempt, and psychopathy. The psychopathy scores, in turn, were predictive of earlier onset of SIB and behavioural problems. Both ADHD(c) diagnostic comorbidity and ADHD(d) symptoms need to be assessed in APD subjects and the dimensional measures may be better in detecting earlier onset SIB, suicide attempt and other behavioural problems.

  11. 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

  12. 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.

  13. 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.

  14. [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.

  15. Anti-NMDA receptor encephalitis: psychiatric presentation and diagnostic challenges from psychosomatic medicine perspective.

    PubMed

    Gulyayeva, Nataliya A; Massie, Mary Jane; Duhamel, Katherine N

    2014-04-01

    We describe two cases of confirmed anti-NMDA receptor encephalitis; one patient initially presented with a clinical picture that resembled delirium and later appeared to present with a conversion reaction and the second patient presented with a first psychotic break followed by the clinical picture of neuroleptic malignant syndrome with catatonia. Neither patient had a previous history of psychiatric illness or recreational drug use. These cases illustrate the diagnostic and treatment challenges associated with this neuropsychiatric condition and underscore the role of psychosomatic medicine psychiatrists in diagnosing anti-NMDA receptor encephalitis.

  16. Test-retest reliability of the proposed DSM-5 eating disorder diagnostic criteria

    PubMed Central

    Sysko, Robyn; Roberto, Christina A.; Barnes, Rachel D.; Grilo, Carlos M.; Attia, Evelyn; Walsh, B. Timothy

    2012-01-01

    The proposed DSM-5 classification scheme for eating disorders includes both major and minor changes to the existing DSM-IV diagnostic criteria. It is not known what effect these modifications will have on the ability to make reliable diagnoses. Two studies were conducted to evaluate the short-term test-retest reliability of the proposed DSM-5 eating disorder diagnoses: anorexia nervosa, bulimia nervosa, binge eating disorder, and feeding and eating conditions not elsewhere classified. Participants completed two independent telephone interviews with research assessors (n=70 Study 1; n=55 Study 2). Fair to substantial agreements (κ= 0.80 and 0.54) were observed across eating disorder diagnoses in Study 1 and Study 2, respectively. Acceptable rates of agreement were identified for the individual eating disorder diagnoses, including DSM-5 anorexia nervosa (κ’s of 0.81 to 0.97), bulimia nervosa (κ=0.84), binge eating disorder (κ’s of 0.75 and 0.61), and feeding and eating disorders not elsewhere classified (κ’s of 0.70 and 0.46). Further, improved short-term test-retest reliability was noted when using the DSM-5, in comparison to DSM-IV, criteria for binge eating disorder. Thus, these studies found that trained interviewers can reliably diagnose eating disorders using the proposed DSM-5 criteria; however, additional data from general practice settings and community samples are needed. PMID:22401974

  17. [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.

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

    PubMed

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

    1995-01-01

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

  19. Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy

    PubMed Central

    Robert, Cyrille; Pasquier, Laurent; Cohen, David; Fradin, Mélanie; Canitano, Roberto; Damaj, Léna; Odent, Sylvie; Tordjman, Sylvie

    2017-01-01

    Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD. The first step is a clinical investigation involving: (i) a child psychiatric and psychological evaluation confirming autism diagnosis from different observational sources and assessing autism severity; (ii) a neuropediatric evaluation examining neurological symptoms and developmental milestones; and (iii) a genetic evaluation searching for dysmorphic features and malformations. The second step involves laboratory and if necessary neuroimaging and EEG studies oriented by clinical results based on clinical genetic and neuropediatric examinations. The identification of genetic disorders associated with ASD has practical implications for diagnostic strategies, early detection or prevention of co-morbidity, specific treatment and follow up, and genetic counseling. PMID:28287497

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

    PubMed

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

    2016-06-01

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

  1. Diagnostic Biomarkers for Posttraumatic Stress Disorder: Promising Horizons from Translational Neuroscience Research.

    PubMed

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

    2015-09-01

    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 reclassified with the emergence of the Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition, 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 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. Copyright © 2015 Society of Biological Psychiatry. All rights reserved.

  2. 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

  3. Feline heartworm disease: A'Rubik's-cube-like' diagnostic and therapeutic challenge.

    PubMed

    Venco, L; Marchesotti, F; Manzocchi, S

    2015-12-01

    Feline heartworm disease presents a unique diagnostic, therapeutic, and preventive challenge for veterinarians. Due to the elusive clinical nature and peculiar physiopathology of heartworm infection in cats, a multistep diagnostic process is mandatory. Clinical signs may be absent or atypical. At the present time there is no single ante mortem diagnostic test that can reach a high level of sensitivity for feline heartworm infection. The most efficient approach for the diagnosis of feline heartworm disease is based upon a synergic association of several tests: thoracic radiography and serum antibody tests for rising index of suspicion, and echocardiography and serum antigen tests for confirming the infection. Other tests should be considered of secondary importance, even if they can help to support the diagnosis. Treatment of feline heartworm disease is typically based on clinical signs, as adulticidal therapy is associated with a high rate of complications and cats frequently self-cure. Chemoprophylaxis, knowledge of the biology of the parasite, and a high index of suspicion seem to be the most important tools for combating feline heartworm disease.

  4. 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

  5. Challenges in Interpretation of Diagnostic Test Results in a Mumps Outbreak in a Highly Vaccinated Population.

    PubMed

    Trotz-Williams, L A; Mercer, N J; Paphitis, K; Walters, J M; Wallace, D; Kristjanson, E; Gubbay, J; Mazzulli, T

    2017-02-01

    In spite of a greatly reduced incidence rate due to vaccination, mumps outbreaks continue to occur in several areas of the world, sometimes in vaccinated populations. This article describes an outbreak in a highly vaccinated population in southwestern Ontario, Canada, and the challenges encountered in interpreting the results of diagnostic tests used in the outbreak. During the outbreak, patients were interviewed and classified according to the outbreak case definition, and specimens were collected for diagnostic testing according to Ontario guidelines. Twenty-seven individuals were classified as confirmed cases (n = 19) or suspect cases (n = 8) according to the case definition, only 9 of which were laboratory-confirmed cases: 7 confirmed by reverse transcriptase PCR (RT-PCR) and 2 by IgM serology. All 19 confirmed cases represented patients who were associated with secondary schools in the local area and had been vaccinated against mumps with one (n = 2) or two (n = 17) doses of the measles-mumps-rubella (MMR) vaccine. This is the first published report of an outbreak of mumps in Ontario in which all confirmed cases had been vaccinated against the disease. It highlights the limitations of and difficulties in interpreting current mumps diagnostic tests when used in vaccinated individuals. Copyright © 2017 American Society for Microbiology.

  6. '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.

  7. Dissociative symptoms and dissociative disorders comorbidity in obsessive compulsive disorder: Symptom screening, diagnostic tools and reflections on treatment.

    PubMed

    Belli, Hasan

    2014-08-16

    Borderline personality disorder, conversion disorder and obsessive compulsive disorder frequently have dissociative symptoms. The literature has demonstrated that the level of dissociation might be correlated with the severity of obsessive compulsive disorder (OCD) and that those not responding to treatment had high dissociative symptoms. The structured clinical interview for DSM-IV dissociative disorders, dissociation questionnaire, somatoform dissociation questionnaire and dissociative experiences scale can be used for screening dissociative symptoms and detecting dissociative disorders in patients with OCD. However, a history of neglect and abuse during childhood is linked to a risk factor in the pathogenesis of dissociative psychopathology in adults. The childhood trauma questionnaire-53 and childhood trauma questionnaire-40 can be used for this purpose. Clinicians should not fail to notice the hidden dissociative symptoms and childhood traumatic experiences in OCD cases with severe symptoms that are resistant to treatment. Symptom screening and diagnostic tools used for this purpose should be known. Knowing how to treat these pathologies in patients who are diagnosed with OCD can be crucial.

  8. Dissociative symptoms and dissociative disorders comorbidity in obsessive compulsive disorder: Symptom screening, diagnostic tools and reflections on treatment

    PubMed Central

    Belli, Hasan

    2014-01-01

    Borderline personality disorder, conversion disorder and obsessive compulsive disorder frequently have dissociative symptoms. The literature has demonstrated that the level of dissociation might be correlated with the severity of obsessive compulsive disorder (OCD) and that those not responding to treatment had high dissociative symptoms. The structured clinical interview for DSM-IV dissociative disorders, dissociation questionnaire, somatoform dissociation questionnaire and dissociative experiences scale can be used for screening dissociative symptoms and detecting dissociative disorders in patients with OCD. However, a history of neglect and abuse during childhood is linked to a risk factor in the pathogenesis of dissociative psychopathology in adults. The childhood trauma questionnaire-53 and childhood trauma questionnaire-40 can be used for this purpose. Clinicians should not fail to notice the hidden dissociative symptoms and childhood traumatic experiences in OCD cases with severe symptoms that are resistant to treatment. Symptom screening and diagnostic tools used for this purpose should be known. Knowing how to treat these pathologies in patients who are diagnosed with OCD can be crucial. PMID:25133142

  9. Assessment of Generalized Anxiety Disorder Diagnostic Criteria in the National Comorbidity Survey and Virginia Adult Twin Study of Psychiatric and Substance Use Disorders

    ERIC Educational Resources Information Center

    Kubarych, Thomas S.; Aggen, Steven H.; Hettema, John M.; Kendler, Kenneth S.; Neale, Michael C.

    2008-01-01

    The authors investigated measurement properties of the "Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition," generalized anxiety disorder (GAD) criteria in the National Comorbidity Survey and the Virginia Adult Twin Study of Psychiatric and Substance Use Disorders (VATSPSUD). The two studies used different widely used…

  10. Assessment of Generalized Anxiety Disorder Diagnostic Criteria in the National Comorbidity Survey and Virginia Adult Twin Study of Psychiatric and Substance Use Disorders

    ERIC Educational Resources Information Center

    Kubarych, Thomas S.; Aggen, Steven H.; Hettema, John M.; Kendler, Kenneth S.; Neale, Michael C.

    2008-01-01

    The authors investigated measurement properties of the "Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition," generalized anxiety disorder (GAD) criteria in the National Comorbidity Survey and the Virginia Adult Twin Study of Psychiatric and Substance Use Disorders (VATSPSUD). The two studies used different widely used…

  11. 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.

  12. 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

  13. Bronchial Challenge With Tri a 14 as an Alternative Diagnostic Test for Baker's Asthma.

    PubMed

    Armentia, A; Garrido-Arandia, M; Cubells-Baeza, N; Gómez-Casado, C; Díaz-Perales, A

    2015-01-01

    Baker's asthma (BA) is the most prevalent occupational respiratory disease in developed countries. It is caused by inhalation of wheat dust in the working environment and affects 1%-10% of workers in the baking industry. Diagnosis of BA is based on bronchial challenge with wheat, a technique that carries a high risk for patients. The wheat lipid transfer protein Tri a 14 is a major allergen in BA. The aim of our study was to characterize Tri a 14 as a marker of BA in order to prevent patients from having to undergo bronchial challenge with wheat. The study population comprised 55 patients selected at the Rio Hortega Hospital, Valladolid, Spain. Patients with BA were diagnosed using a skin prick test (SPT) with wheat and Tri a 14 and bronchial challenge test (BCT) with wheat. Patients with food allergy had a clear clinical history of allergy to peach confirmed by positive SPT to peach extract and Pru p 3. All patients in the BA group had a positive SPT result with wheat (100%), and most had positive results with Tri a 14 (95%). A positive BCT result with Tri a 14 was also observed in 22 of 27 of the patients with BA (82%). The response to Tri a 14 was specifically associated with BA. Tri a 14 is a good marker of BA and can be used in SPT and BCT as an alternative diagnostic method, thus avoiding bronchial challenge with wheat and reducing the risk associated with this technique.

  14. Diagnostic challenges and case management of the first imported case of Plasmodium knowlesi in Sri Lanka.

    PubMed

    Dewanee Ranaweera, A; Danansuriya, Manjula N; Pahalagedera, Kusumawathie; de A W Gunasekera, W M Kumudunayana T; Dharmawardena, Priyani; Mak, Keng Wai; Wong, Pei-Sze Jeslyn; Li, Mei-Zhi Irene; Tan, Cheong Huat; Hapuarachchi, Hapuarachchige C; Herath, Hema D B; Fernando, Deepika

    2017-03-21

    Sri Lanka has achieved 'malaria-free' status and is now in the phase of prevention of re-introduction of malaria. Imported malaria remains a challenge to resurgence of the disease. The diagnostic challenges encountered and the rapid response initiated to manage a Plasmodium infection, which was later confirmed as Plasmodium knowlesi, the first reported case from Sri Lanka, is discussed. An army officer who returned from Malaysia in October 2016 was found to be positive for Plasmodium both by microscopy and rapid diagnostic test (RDT) by the Anti Malaria Campaign Sri Lanka (AMC) during his third visit to a health care provider. Microscopy findings were suspicious of P. knowlesi infection as the smears showed parasite stages similar to both Plasmodium malariae and Plasmodium falciparum. Nested PCR at AMC confirmed Plasmodium genus, but not the species. In the absence of species confirmation, the patient was treated as a case of P. falciparum. The presence of P. knowlesi was later confirmed by a semi-nested PCR assay performed at the Environmental Health Institute, National Environmental Agency in Singapore. The parasite strain was also characterized by sequencing the circumsporozoite gene. Extensive case investigation including parasitological and entomological surveillance was carried out. Plasmodium knowlesi should be suspected in patients returning from countries in the South Asian region where the parasite is prevalent and when blood smear results are inconclusive.

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

    PubMed Central

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

    2013-01-01

    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

  16. Diagnostically Challenging Epithelial Odontogenic Tumors: A Selective Review of 7 Jawbone Lesions

    PubMed Central

    Mishima, Kenji; Saito, Ichiro; Kusama, Kaoru

    2009-01-01

    Considerable variation in the clinicopathologic presentation of epithelial odontogenic tumors can sometimes be confusing and increase the chance of misdiagnosis. Seven diagnostically challenging jawbone lesions are described. There were 2 cases of mistaken identity in our ameloblastoma file. One unicystic type, initially diagnosed and treated as a lateral periodontal cyst, showed destructive recurrence 6 years postoperatively. The other globulomaxillary lesion was managed under the erroneous diagnosis of adenomatoid odontogenic tumor and recurred 4 times over an 11-year period. This tumor was found in retrospect to be consistent with an adenoid ameloblastoma with dentinoid. The diagnosis of cystic squamous odontogenic tumor (SOT) occurring as a radicular lesion of an impacted lower third molar was one of exclusion. Of two unsuspected keratocystic odontogenic tumors, one depicted deceptive features of pericoronitis, while the other case has long been in our files with the diagnosis of globulomaxillary SOT. Two cases of primary intraosseous squamous cell carcinoma appeared benign clinically and exhibited unexpected findings; an impacted third molar began to erupt in association with the growth of carcinoma and another periradicular carcinoma showed dentinoid formation. Cases selectively reviewed in this article present challenging problems which require clinical and radiographic correlation to avoid potential diagnostic pitfalls. PMID:20596984

  17. Links between Autism Spectrum Disorder Diagnostic Status and Family Quality of Life

    PubMed Central

    McKechanie, Andrew G.; Moffat, Vivien J.; Johnstone, Eve C.; Fletcher-Watson, Sue

    2017-01-01

    Quality of life is often relatively lowered in families of children with additional needs, and this may be particularly the case where additional needs are accompanied by an autism spectrum disorder (ASD). Here we explore the effects of diagnostic status specifically, comparing families with children with an ASD diagnosis with others who a) have additional needs but no signs of ASD; and b) have additional needs and signs of ASD but no diagnosis. Mothers (n = 76) of children with additional needs completed standardised questionnaires about quality of life, stress, service provision, child behaviour and presence and severity of ASD traits. In addition, a group of mothers of typically developing young people (n = 17) completed standardised questionnaires on individual and family quality of life and on the behaviour of their son or daughter. Mothers of typically developing young people had significantly higher individual and family quality of life scores than each of the three other groups. Increased severity of ASD was associated with increased maternal stress, which in turn was associated with decreased family and maternal quality of life. The group reporting the lowest quality of life and the highest stress were the mothers of individuals with signs of ASD but no diagnosis. This pattern did not seem to be explained by lack of access to services, or rates of intellectual disability or challenging behaviour in this sub-group. The finding that poor quality of life and high stress was most apparent in the sub-group of mothers with children who had signs of ASD but did not have a diagnosis of ASD suggests that an interesting topic for further investigation is whether receipt of a diagnosis itself can positively influence quality of life and levels of maternal stress. PMID:28368363

  18. Diagnostic performance of the “Huffing and Puffing” sign in psychogenic (functional) movement disorders

    PubMed Central

    Laub, Holly N.; Dwivedi, Alok K.; Revilla, Fredy J.; Duker, Andrew P.; Pecina-Jacob, Cara; Espay, Alberto J.

    2014-01-01

    Objective To determine the diagnostic value of effort-associated behaviors (“huffing and puffing” spectrum) in patients with psychogenic movement disorders. Methods Three blinded clinicians rated presence, severity, and duration of effort-associated features during standing and walking tasks on edited videos of 131 patients with psychogenic gait disorders and 37 patients with organic gait disorders. Results Huffing, grunting, grimacing, and breath holding were the most common effort-associated behaviors in patients with psychogenic gait disorders, with a combined prevalence of 44% and disproportionate to the severity of gait impairment compared to organic gait disorders. The presence of “huffing and puffing”-type behaviors yielded a relatively low sensitivity but high specificity for the diagnosis of psychogenic movement disorders, increasing the odds of diagnosis 13-fold (95%, CI: 4.2–43.8) compared to organic gait disorders. Conclusions Demonstration of effort-associated behaviors during standing and walking strongly supports the psychogenic nature of disorders when gait is involved. PMID:25961068

  19. 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…

  20. 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…

  1. 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…

  2. 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…

  3. 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…

  4. 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…

  5. 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…

  6. Systematic review with meta-analysis: diagnostic overlap of microscopic colitis and functional bowel disorders.

    PubMed

    Guagnozzi, D; Arias, Á; Lucendo, A J

    2016-04-01

    Microscopic colitis shares certain common clinical manifestations with functional bowel disorders, especially diarrhoea-dominant irritable bowel syndrome (IBS) and functional diarrhoea. However, the exact relationship between microscopic colitis and functional bowel disorders has not been systematically assessed. To conduct a systematic review and meta-analysis on the diagnostic overlap between functional bowel disorders and microscopic colitis. We searched MEDLINE, EMBASE and SCOPUS databases, as well as the abstract books of the major gastroenterology meetings, to investigate the prevalence of microscopic colitis among patients with functional bowel disorders (considering all subtypes of both disorders) and vice versa. Data were pooled with a random-effects model. Of 227 references identified, data were collected from 26 studies and a total of 5,099 adult patients. The pooled prevalence any type of functional bowel disorders in patients who present diagnostic criteria of microscopic colitis was 39.1% (95% CI: 22.8-56.6%; I(2) : 97%) and was higher for lymphocytic colitis than for collagenous colitis (40.7% vs. 28.4%, respectively; P = 0.58). The prevalence of microscopic colitis in functional bowel disorders patients was 7% (95% CI: 3.6-11.4%), reaching 9.8% (95% CI: 4.4-17.1%; I(2) : 95%) in patients exhibiting diarrhoea-dominant IBS, nonsignificantly higher than microscopic colitis rates among patients with constipation-dominant IBS (1.3%) or mixed-dominant IBS (1.9%). There is a significant overlap of symptoms between microscopic colitis and functional bowel disorders, especially in diarrhoeal subtypes. The high proportion of microscopic colitis among diarrhoea-dominant functional syndromes should serve as a call for more active diagnosis in selected patients. © 2016 John Wiley & Sons Ltd.

  7. Anti-basal ganglia antibodies: a possible diagnostic utility in idiopathic movement disorders?

    PubMed Central

    Church, A; Dale, R; Giovannoni, G

    2004-01-01

    Background: The spectrum of post-streptococcal brain disorders includes chorea, tics, and dystonia. The proposed mediators of disease are anti-basal ganglia (neuronal) antibodies (ABGA). Aim: To evaluate ABGA as a potential diagnostic marker in a cohort of UK post-streptococcal movement disorders. Methods: Forty UK children presenting with movement disorders associated with streptococcal infection were recruited. ABGA was measured using ELISA and Western immunoblotting. To determine ABGA specificity and sensitivity, children with neurological diseases (n = 100), children with uncomplicated streptococcal infection (n = 40), and children with autoimmune disease (n = 50) were enrolled as controls. Results: The mean ELISA result was increased in the post-streptococcal movement disorder group compared to all controls and derived a sensitivity of 82.4% and specificity of 79%. The Western immunoblotting method to detect ABGA derived a sensitivity and specificity of 92.5% and 94.7% respectively. There was common binding to basal ganglia antigens of 40, 45, and 60 kDa. Immunofluorescence localised the antibody binding to basal ganglia neurones. Conclusion: ABGA appears to be a potentially useful diagnostic marker in post-streptococcal neurological disorders. Western immunoblotting appears to be the preferred method due to good sensitivity and specificity and the ability to test several samples at once. PMID:15210488

  8. 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.

  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. 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…

  11. Autism Spectrum Disorder in the DSM-5: Diagnostic Sensitivity and Specificity in Early Childhood.

    PubMed

    Christiansz, Jessica A; Gray, Kylie M; Taffe, John; Tonge, Bruce J

    2016-06-01

    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 with DSM-IV PDD or developmental delay. Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) data was assigned to DSM-5 subdomains. Children displaying the required symptomatology were classified with DSM-5 ASD. DSM-IV clinical diagnoses were compared to DSM-5 classifications. Using combined ADI-R/ADOS information, sensitivity was .84 and specificity was .54. Comorbid behaviour and emotional problems were significantly lower in children with PDD that did not meet DSM-5 criteria.

  12. 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.

  13. Antisocial personality disorder and psychopathy: diagnostic dilemmas in classifying patterns of antisocial behavior in sentencing evaluations.

    PubMed

    Cunningham, M D; Reidy, T J

    1998-01-01

    Antisocial Personality Disorder (APD) and PCL-R psychopathy are critically examined regarding their application to sentencing determinations. PCL-R psychopathy is emerging in the literature as a more useful forensic diagnostic construct than APD, which appears flawed by multiple weaknesses. These include shifting diagnostic criteria, innumeracy problems, absence of symptom weighting, temporal instability, and the equivalence of some symptoms with substance abuse disorders. Additionally, APD overdiagnosis may result from inattention to issues of social context, trauma history, and symptom pervasiveness. Neither objective nor projective personality testing reliably differentiates APD. Finally, an APD diagnosis does not always indicate criminal, much less incorrigible criminal behavior. By contrast, PCL-R psychopathy results are strongly predictive of criminal behavior and violent recidivism for Caucasian males through mid-life residing in the community. Emerging research with the PCL-R regarding other important populations and contexts is promising but generalization is currently limited.

  14. Attention-Deficit/Hyperactivity Disorder in Young Children: Predictors of Diagnostic Stability

    PubMed Central

    Sideridis, Georgios D.; Prock, Lisa Albers; Sheridan, Margaret A.

    2014-01-01

    OBJECTIVES: The goals of this study were (1) to provide estimates of diagnostic stability for a sample of young children diagnosed with attention-deficit/hyperactivity disorder (ADHD) after undergoing comprehensive multidisciplinary assessments and (2) to identify baseline child and family characteristics that predict diagnostic stability over time. METHODS: Children aged 3 to 6 years, 11 months consecutively diagnosed with ADHD after multidisciplinary consultations at a tertiary care clinic between 2003 and 2008 were recontacted in 2012 and 2013 (N = 120). At follow-up, the primary outcome was the proportion of children who continued to meet diagnostic criteria for ADHD. To identify predictors of diagnostic stability, logistic regression models were used. In addition, a latent class model was used to independently classify subjects into distinct clusters. RESULTS: In this cohort, 70.4% of the children contacted at follow-up continued to meet diagnostic criteria for ADHD. Predictors of diagnostic stability included externalizing and internalizing symptoms at baseline, parental history of psychopathology, and family socioeconomic status. The latent class model independently identified 3 distinct profiles: (1) children who no longer met ADHD criteria; (2) children with persistent ADHD and high parental psychopathology; and (3) children with persistent ADHD and low family socioeconomic status. CONCLUSIONS: Young children who underwent comprehensive developmental and psychological assessments before receiving an ADHD diagnosis, had higher rates of diagnostic stability than in previous studies of community samples. Child and family factors that predict diagnostic stability have the potential to guide treatment planning for children diagnosed with ADHD before 7 years of age. PMID:24639272

  15. The diagnostic challenge of congenital dyserythropoietic anaemia: two cases of 'CDA type II'.

    PubMed

    Dukka, Srivasavi; King, May-Jean; Hill, Quentin A

    2014-04-01

    The congenital dyserythropoietic anaemias (CDAs) are a group of rare hereditary disorders characterised by ineffective erythropoiesis and morphological abnormalities in the erythroblasts. Patients may present with jaundice or with symptoms of anaemia, gall stones or iron overload. The diagnosis can be challenging and cases have been confused with haemolytic anaemia, haemochromatosis or a haemoglobinopathy. A delayed diagnosis can lead to inappropriate treatment or delayed management of iron overload. We present two patients previously diagnosed as CDA type II in whom the diagnosis was revised to CDA type I and to hereditary spherocytosis. The conditions are compared and the approach to diagnosis is discussed.

  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. Diagnostic accuracy of scapular physical examination tests for shoulder disorders: a systematic review.

    PubMed

    Wright, Alexis A; Wassinger, Craig A; Frank, Mason; Michener, Lori A; Hegedus, Eric J

    2013-09-01

    To systematically review and critique the evidence regarding the diagnostic accuracy of physical examination tests for the scapula in patients with shoulder disorders. A systematic, computerised literature search of PubMED, EMBASE, CINAHL and the Cochrane Library databases (from database inception through January 2012) using keywords related to diagnostic accuracy of physical examination tests of the scapula. The Quality Assessment of Diagnostic Accuracy Studies tool was used to critique the quality of each paper. Eight articles met the inclusion criteria; three were considered to be of high quality. Of the three high-quality studies, two were in reference to a 'diagnosis' of shoulder pain. Only one high-quality article referenced specific shoulder pathology of acromioclavicular dislocation with reported sensitivity of 71% and 41% for the scapular dyskinesis and SICK scapula test, respectively. Overall, no physical examination test of the scapula was found to be useful in differentially diagnosing pathologies of the shoulder.

  18. Neurocognitive diagnostic challenges and the DSM-5: perspectives from the front lines of clinical practice.

    PubMed

    Remington, Ruth

    2012-09-01

    The proposed changes to the DSM-IV-TR are an attempt to advance a common language to be used by clinicians and researchers in psychiatry in the United States. Any improvement brought about by these changes may be jeopardized unless the ICD-10, which is used by non-psychiatric clinicians and researchers worldwide, and the DSM resolve the differences in the definitions and diagnostic criteria of most disorders. Unless there is congruence between the two manuals, debate is therefore likely to continue in the literature as to which provider is best suited to direct the care for the person with dementia: primary care providers, psychiatric providers, or neurologists. The changes to the DSM-IV-TR have the potential to promote preventive measures and early diagnosis, provided that the stigma associated with mental illnesses can be mitigated. A common language among psychiatric and primary care APRNs, other clinicians, and researchers will enhance effective communication and improve dementia care.

  19. Mitochondrial Damage: A Diagnostic and Metabolic Approach in Traumatic Brain Injury and Post-Traumatic Disorder

    DTIC Science & Technology

    2013-01-29

    performed in 50-100 ul blood ( depend on the severity of mitochondrial damage). The data of dipstick test in blood for complex I and PDH is shown in... mitochondrial dysfunction are induced by chronic stress in rat brain. Neuropsychopharmacology 2001;24:420-9. 13. Manoli I, Alesci S, Blackman MR, Su YA, Rennert...REPORT Mitochondrial Damage: A Diagnostic and Metabolic Approach in Traumatic Brain Injury and Post-Traumatic Disorder 14. ABSTRACT 16. SECURITY

  20. Disorders of thought are severe mood disorders: the selective attention defect in mania challenges the Kraepelinian dichotomy a review.

    PubMed

    Raymond Lake, C

    2008-01-01

    Kraepelin said severe mental illness was due to 2 diseases subsequently characterized as disorders of thought vs disorders of mood, ie, the Kraepelinian dichotomy. Schizophrenia, traditionally considered the disorder of thought, has been defined by the presence of hallucinations, delusions, catatonia, and disorganization. Tangentiality, derailment, loose associations, and thought blocking are typically considered pathognomonic of schizophrenia. By contrast, the mood disorders have been characterized only as disorders of the emotions, though both depression and mania, when severe, are now recognized to include the same psychotic features traditionally considered diagnostic of schizophrenia. This article addresses disordered thinking in mania in order to clarify the relationship between schizophrenia and psychotic mood disorders. Normally, the brain's selective attention mechanism filters and prioritizes incoming stimuli by excluding from consciousness extraneous, low-priority stimuli and grading the importance of more relevant data. Because this "filter/prioritizer" becomes defective in mania, tangential stimuli are processed without appropriate prioritization. Observed as distractibility, this symptom is an index of the breakdown in selective attention and the severity of mania, accounting for the signs and symptoms of psychotic thinking. The zone of rarity between schizophrenia and psychotic mood disorders is blurred because severe disorders of mood are also disorders of thought. This relationship calls into question the tenet that schizophrenia is a disease separate from psychotic mood disorders. Patients whose case histories are discussed herein gave their written informed consent to participate in this institutional human subjects committee-approved protocol.

  1. Disorders of Thought Are Severe Mood Disorders: the Selective Attention Defect in Mania Challenges the Kraepelinian Dichotomy—A Review

    PubMed Central

    Raymond Lake, C.

    2008-01-01

    Kraepelin said severe mental illness was due to 2 diseases subsequently characterized as disorders of thought vs disorders of mood, ie, the Kraepelinian dichotomy. Schizophrenia, traditionally considered the disorder of thought, has been defined by the presence of hallucinations, delusions, catatonia, and disorganization. Tangentiality, derailment, loose associations, and thought blocking are typically considered pathognomonic of schizophrenia. By contrast, the mood disorders have been characterized only as disorders of the emotions, though both depression and mania, when severe, are now recognized to include the same psychotic features traditionally considered diagnostic of schizophrenia. This article addresses disordered thinking in mania in order to clarify the relationship between schizophrenia and psychotic mood disorders. Normally, the brain's selective attention mechanism filters and prioritizes incoming stimuli by excluding from consciousness extraneous, low-priority stimuli and grading the importance of more relevant data. Because this “filter/prioritizer” becomes defective in mania, tangential stimuli are processed without appropriate prioritization. Observed as distractibility, this symptom is an index of the breakdown in selective attention and the severity of mania, accounting for the signs and symptoms of psychotic thinking. The zone of rarity between schizophrenia and psychotic mood disorders is blurred because severe disorders of mood are also disorders of thought. This relationship calls into question the tenet that schizophrenia is a disease separate from psychotic mood disorders. Patients whose case histories are discussed herein gave their written informed consent to participate in this institutional human subjects committee–approved protocol. PMID:17515440

  2. 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.

  3. 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

  4. Demographic and Diagnostic Features of 3147 Inpatients With Mood Disorders in Iran

    PubMed Central

    Ghanbari Jolfaei, Atefeh; Ghadamgahi, Pari; Ahmadzad-Asl, Masoud; Shabani, Amir

    2016-01-01

    Objectives To assess and compare demographic and diagnostic characteristics of inpatients with mood disorders in Iran. Materials and Methods We collected the demographic, clinical, and treatment characteristics of patients, who were hospitalized during five years from April 2006 to March 2010, in Iran hospital of psychiatry, a residency training center to evaluate the general clinical picture of the disorder. Results Overall, 95.3% of subjects had a diagnosis of bipolar I disorder (BID), 2.5% were diagnosed as bipolar II disorder (BIID) and 1.3% and 0.9% met the criteria for major depressive disorder (MDD) and bipolar not otherwise specified (NOS), respectively. Compared to patients with MDD and BIID, the onset of BID was at an earlier age (32.2 ± 1, 34.8 ± 1.5 and 29.9 ± 1.9 years old, respectively, P < 0.001). In addition, a number of admissions, mean duration of each admission and number of treatments with electro-convulsive therapy (ECT) were significantly higher in patients with BID. Conclusions Bipolar I disorder was the most common diagnosis for inpatients with mood disorders and a more severe course in BID may indicate more severe impairments that would result in more severe disabilities. PMID:27822276

  5. Using communication to reduce challenging behaviors in individuals with autism spectrum disorders and intellectual disability.

    PubMed

    Hutchins, Tiffany L; Prelock, Patricia A

    2014-01-01

    This article describes the relationship between expressive communication impairments and common challenging behaviors in individuals with Autism Spectrum Disorder and Intellectual Disability. The communication challenges of individuals with Autism Spectrum Disorder/Intellectual Disability are described and several evidence-based intervention strategies are proposed to support communication so as to decrease challenging behaviors. Recommendations for practice are offered. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Systemic challenges in bipolar disorder management: A patient-centered approach.

    PubMed

    Nestsiarovich, Anastasiya; Hurwitz, Nathaniel G; Nelson, Stuart J; Crisanti, Annette S; Kerner, Berit; Kuntz, Matt J; Smith, Alicia N; Volesky, Emma; Schroeter, Quentin L; DeShaw, Jason L; Young, S Stanley; Obenchain, Robert L; Krall, Ronald L; Jordan, Kimmie; Fawcett, Jan; Tohen, Mauricio; Perkins, Douglas J; Lambert, Christophe G

    2017-09-13

    As part of a series of Patient-Centered Outcomes Research Institute-funded large-scale retrospective observational studies on bipolar disorder (BD) treatments and outcomes, we sought the input of patients with BD and their family members to develop research questions. We aimed to identify systemic root causes of patient-reported challenges with BD management in order to guide subsequent studies and initiatives. Three focus groups were conducted where patients and their family members (total n = 34) formulated questions around the central theme, "What do you wish you had known in advance or over the course of treatment for BD?" In an affinity mapping exercise, participants clustered their questions and ranked the resulting categories by importance. The research team and members of our patient partner advisory council further rated the questions by expected impact on patients. Using a Theory of Constraints systems thinking approach, several causal models of BD management challenges and their potential solution were developed with patients using the focus group data. A total of 369 research questions were mapped to 33 categories revealing 10 broad themes. The top priorities for patient stakeholders involved pharmacotherapy and treatment alternatives. Analysis of causal relationships underlying 47 patient concerns revealed two core conflicts: for patients, whether or not to take pharmacotherapy, and for mental health services, the dilemma of care quality vs quantity. To alleviate the core conflicts identified, BD management requires a coordinated multidisciplinary approach including: improved access to mental health services, objective diagnostics, sufficient provider visit time, evidence-based individualized treatment, and psychosocial support. © 2017 The Authors. Bipolar Disorders Published by John Wiley & Sons Ltd.

  7. Evolving Refractory Major Depressive Disorder Diagnostic and Treatment Paradigms: Toward Closed-Loop Therapeutics

    PubMed Central

    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. PMID:20631824

  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. 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.

  10. 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.

  11. Adoptive parents can be unprepared for the challenges in caring for children with reactive attachment disorder.

    PubMed

    Smyke, Anna T

    2015-04-01

    Implications for practice and research: Adoptive parents experience significant challenges in caring for children diagnosed with reactive attachment disorder. Informing prospective adoptive parents about attachment issues and providing concrete assistance to develop healthy attachment relationships may decrease some of the frustration experienced by parents and children affected with the disorder. Future research could address factors contributing to the diagnosis of reactive attachment disorder as well as best practices for ameliorating the disorder.

  12. 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…

  13. The Relationship of Challenging Behaviors to Severity and Symptoms of Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Wilkins, Jonathan; Macken, Jennifer

    2009-01-01

    Challenging behaviors were assessed in 313 children, and it was demonstrated that children with autism spectrum disorders (ASD) exhibited greater levels of challenging behavior than both normally developing controls and children with psychopathology or atypical development. Next, we examined the relation between challenging behaviors and symptoms…

  14. 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

  15. Primary unclassified sarcoma of the parotid gland: a case of diagnostic and therapeutic challenge.

    PubMed

    Saravakos, Panagiotis; Hartwein, Joerg; Fayyazi, Afshin

    2017-05-01

    Malignant salivary gland sarcomas represent a clinically and histologically diagnostic challenge. Primary unclassified sarcomas of the parotid gland consist a rare salivary gland tumor. We report an unusual case of such a tumor, which occurred in the right parotid gland of a 54-year-old male and presented as an asymptomatic painless mass. The pathologoanatomical examination revealed a rhabdoid large-cell unclassified sarcoma. The patient was treated with superficial parotidectomy and adjuvant radiotherapy. No recurrence was noted in a 10-year follow-up period. Due to the rare occurrence of primary unclassified sarcomas, there is no evidence-based treatment of choice. An optimal approach is best planned in a multidisciplinary setting, taking into consideration the resectability of the tumor, individual patient characteristics, presence of local or distant metastatic activity, local infiltrative behavior and tumor stage. A close follow-up of the patient is strongly recommended.

  16. Progress and Challenges Towards Point-of-Care Diagnostic Development for Dengue.

    PubMed

    Pang, Junxiong; Chia, Po Ying; Lye, David C; Leo, Yee Sin

    2017-09-13

    Dengue detection strategies involve viral RNA, antigen and/or antibody detection. Each strategy has its advantages and disadvantages. Optimal, user-friendly and rapid diagnostic tests based on immunochromatographic assays are pragmatic point-of-care-test (POCT) in dengue endemic regions where there are limited laboratory capabilities and optimal storage conditions. Increasingly, there is a greater public health significance for multiplexing assay to differentiate dengue from Zika or pathogens with similar clinical presentations. Although there have been much assay/platform developments towards POCT, independent validation and implementation remain very limited. This review highlights the current key progress and challenges towards the development of dengue POCT. Copyright © 2017 American Society for Microbiology.

  17. [Reversible cerebral vasoconstriction syndrome. Challenge for diagnostics and intensive care therapy].

    PubMed

    Jansen, G; Mertzlufft, F; Bach, F

    2015-08-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a disease of unclear incidence frequently affecting middle aged women and is usually associated with use of adrenergic or serotoninergic substances. The exclusion of relevant differential diagnoses, such as aneurysmal subarachnoid hemorrhage, primary cerebral angiitis, posterior reversible encephalopathy syndrome and carotid artery dissection is critical in terms of time and significance. Thunderclap headache as well as multiple and multilocular vasospasms with direct or indirect angiography without substantial findings in cerebrospinal fluid diagnostics are typical symptoms. The necessity for intensive care treatment is often justified by initial acute impairment of vital functions and possible development of cerebral or extracerebral complications. Because the exact pathophysiology remains unknown, a specific therapy does not exist. This poses significant challenges in intensive care medicine, which are illustrated on the basis of the case study presented.

  18. Recurrent rhabdoid meningioma with lymph node, pulmonary and bone metastases: a diagnostic and therapeutic challenge.

    PubMed

    Kakkar, Aanchal; Baghmar, Saphalta; Garg, Ajay; Suri, Vaishali; Raina, Vinod; Sarkar, Chitra; Sharma, Mehar Chand

    2016-07-01

    Rhabdoid meningioma is a rare meningioma variant, classified as WHO grade III. Although this tumor is known for its aggressive behavior and poor prognosis, extracranial metastasis is rare. We report the rare case of a 31-year-old patient with rhabdoid meningioma which recurred several times despite gross total resection, radiation therapy, and gamma knife radiosurgery, and the last recurrence was associated with metastases to lungs, lymph node and bone. The patient showed no response to paclitaxel-carboplatin, or vincristine-cyclophosphamide-adriamycin chemotherapy, and succumbed to the disease. Metastases from rhabdoid meningioma prove to be a diagnostic challenge, and treatment for metastatic meningiomas is not optimized, thus necessitating documentation and interdisciplinary consensus on management protocols.

  19. Psychopathological rating scales for diagnostic use in adults with attention-deficit/hyperactivity disorder (ADHD).

    PubMed

    Rösler, M; Retz, W; Thome, J; Schneider, M; Stieglitz, R-D; Falkai, P

    2006-09-01

    The diagnosis of attention-deficit hyperactivity disorder (ADHD) in adults is a complex procedure which should include retrospective assessment of childhood ADHD symptoms either by patient recall or third party information, diagnostic criteria according to DSM-IV, current adult ADHD psychopathology including symptom severity and pervasiveness, functional impairment, quality of life and comorbidity. In order to obtain a systematic database for the diagnosis and evaluation of the course ADHD rating scales can be very useful. This article reviews rating instruments that have found general acceptance. The Wender-Utah Rating Scale (WURS) and the Childhood Symptoms Scale by Barkley and Murphy try to make a retrospective assessment of childhood ADHD symptoms. The Connors Adult ADHD Rating Scales (CAARS), the Current Symptoms Scales by Barkley and Murphy (CSS), the Adult Self Report Scale (ASRS) by Adler et al. and Kessler et al. or the Attention Deficit Hyperactivity Disorder--Self Report Scale (ADHD-SR by Rösler et al.) are self report rating scales focusing mainly on the DSM-IV criteria. The CAARS and the CSS have other report forms too. The Brown ADD Rating Scale (Brown ADD-RS) and the Attention Deficit Hyperactivity Disorder--Other Report Scale (ADHD-OR by Rösler et al.) are instruments for use by clinicians or significant others. Both self rating scales and observer report scales quantify the ADHD symptoms by use of a Likert scale mostly ranging from 0 to 3. This makes the instruments useful to follow the course of the disease quantitatively. Comprehensive diagnostic interviews not only evaluate diagnostic criteria, but also assess different psychopathological syndrome scores, functional disability measures, indices of pervasiveness and information about comorbid disorders. The most comprehensive procedures are the Brown ADD Diagnostic Form and the Adult Interview (AI) by Barkley and Murphy. An instrument of particular interest is the Wender Reimherr Interview (WRI

  20. 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…

  1. Metabolic consequences of obesity and insulin resistance in polycystic ovary syndrome: diagnostic and methodological challenges.

    PubMed

    Jeanes, Yvonne M; Reeves, Sue

    2017-02-22

    Women with polycystic ovary syndrome (PCOS) have a considerable risk of metabolic dysfunction. This review aims to present contemporary knowledge on obesity, insulin resistance and PCOS with emphasis on the diagnostic and methodological challenges encountered in research and clinical practice. Variable diagnostic criteria for PCOS and associated phenotypes are frequently published. Targeted searches were conducted to identify all available data concerning the association of obesity and insulin resistance with PCOS up to September 2016. Articles were considered if they were peer reviewed, in English and included women with PCOS. Obesity is more prevalent in women with PCOS, but studies rarely reported accurate assessments of adiposity, nor split the study population by PCOS phenotypes. Many women with PCOS have insulin resistance, though there is considerable variation reported in part due to not distinguishing subgroups known to have an impact on insulin resistance as well as limited methodology to measure insulin resistance. Inflammatory markers are positively correlated with androgen levels, but detailed interactions need to be identified. Weight management is the primary therapy; specific advice to reduce the glycaemic load of the diet and reduce the intake of pro-inflammatory SFA and advanced glycation endproducts have provided promising results. It is important that women with PCOS are educated about their increased risk of metabolic complications in order to make timely and appropriate lifestyle modifications. Furthermore, well-designed robust studies are needed to evaluate the mechanisms behind the improvements observed with dietary interventions.

  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. Nonconvulsive status epilepticus: a diagnostic and therapeutic challenge in the intensive care setting

    PubMed Central

    Holtkamp, Martin; Meierkord, Hartmut

    2011-01-01

    Nonconvulsive status epilepticus (NCSE) comprises a group of syndromes that display a great diversity regarding response to anticonvulsants ranging from virtually self-limiting variants to entirely refractory forms. Therefore, treatment on intensive care units (ICUs) is required only for a selection of cases. The aetiology and clinical form of NCSE are strong predictors for the overall prognosis. Absence status epilepticus is commonly seen in patients with idiopathic generalized epilepsy and is rapidly terminated by low-dose of benzodiazepines. The management of complex partial status epilepticus is straightforward in patients with pre-existing epilepsy, but poses major problems if occurring in the context of acute brain lesions. Subtle status epilepticus represents the late stage of undertreated previous overt generalized convulsive status epilepticus and always requires aggressive ICU treatment. Within the intensive care setting, the diagnostic challenge may be seen in the difficulty in delineating nonepileptic conditions such as posthypoxic, metabolic or septic encephalopathies from NCSE. Although all important forms are considered, the focus of this review lies on clinical presentations and electroencephalogram features of comatose patients treated on ICUs and possible diagnostic pitfalls. PMID:21694817

  4. The evolving threat of influenza viruses of animal origin and the challenges in developing appropriate diagnostics.

    PubMed

    Mak, Polly W Y; Jayawardena, Shanthi; Poon, Leo L M

    2012-11-01

    An H1N1 subtype of swine origin caused the first influenza pandemic in this century. This pandemic strain was a reassortant of avian, swine, and human influenza viruses. Many diagnostic laboratories were overwhelmed by the testing demands related to this pandemic. Nevertheless, there remains the threat of other animal influenza viruses, such as highly pathogenic H5N1. As a part of pandemic preparedness, it is essential to identify the diagnostic challenges that will accompany the next pandemic. We discuss the natural reservoir of influenza viruses and the possible role of livestock in the emergence of pandemic strains. The current commonly used molecular tests for influenza diagnosis or surveillance are also briefly reviewed. Some of these approaches are also used to detect animal viruses. Unfortunately, owing to a lack of systematic surveillance of animal influenza viruses, established tests may not be able to detect pandemic strains that have yet to emerge from the animal reservoir. Thus, multiple strategies need to be developed for better identification of influenza viruses. In addition, molecular assays for detection of mutations associated with antiviral resistance and for viral segment reassortments should also be encouraged. Influenza viruses are highly dynamic viruses. Regular and systematic influenza surveillance in both humans and animals is essential to provide a more comprehensive picture of the prevalent influenza viruses. To better prepare for the next pandemic, we should develop some simple and easy-to-use tests for characterizing newly emerging influenza viruses. © 2012 American Association for Clinical Chemistry

  5. Narcolepsy Type 1 and Idiopathic Generalized Epilepsy: Diagnostic and Therapeutic Challenges in Dual Cases.

    PubMed

    Baiardi, Simone; Vandi, Stefano; Pizza, Fabio; Alvisi, Lara; Toscani, Lucia; Zambrelli, Elena; Tinuper, Paolo; Mayer, Geert; Plazzi, Giuseppe

    2015-11-15

    The aim of this study is to describe the possible co-occurrence of narcolepsy type 1 and generalized epilepsy, focusing on diagnostic challenge and safety of dual treatments. Four patients with comorbidity for narcolepsy type 1 and idiopathic generalized epilepsy are reported: in three cases the onset of epilepsy preceded narcolepsy type 1 appearance, whereas in one case epileptic spells onset was subsequent. Patients presented with absences, myoclonic and tonic-clonic seizure type: in the patient with tonic-clonic seizures the dual pathology was easily recognized, in the other cases the first diagnosis caused the comorbid disease to be overlooked, independent of the time-course sequence. All four patients underwent neurological examination, video-electroencephalogram during which ictal and interictal epileptic discharges were recorded, and sleep polysomnographic studies. Repeated sleep onset rapid eye movement periods (SOREMPs) were documented with the multiple sleep latency test (MLST) in all the four cases. All patients had unremarkable brain magnetic resonance imaging studies and cerebrospinal hypocretin-1 was assessed in two patients, revealing undetectable levels. The association of antiepileptic drugs and substances currently used to treat narcolepsy type 1, including sodium oxybate, was effective in improving seizures, sleep disturbance, and cataplexy. Narcolepsy type 1 may occur in association with idiopathic generalized epilepsy, leading to remarkable diagnostic and therapeutic challenges. Electrophysiological studies as well as a comprehensive somnologic interview can help confirm the diagnosis in patients with ambiguous neurological history. Sodium oxybate in combination with antiepileptic drugs is safe and effective in treating cataplexy and excessive daytime sleepiness. © 2015 American Academy of Sleep Medicine.

  6. 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,…

  7. 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.

  8. Testing the validity and acceptability of the diagnostic criteria for Hoarding Disorder: a DSM-5 survey.

    PubMed

    Mataix-Cols, D; Fernández de la Cruz, L; Nakao, T; Pertusa, A

    2011-12-01

    The DSM-5 Obsessive-Compulsive Spectrum Sub-Workgroup is recommending the creation of a new diagnostic category named Hoarding Disorder (HD). The validity and acceptability of the proposed diagnostic criteria have yet to be formally tested. Obsessive-compulsive disorder/hoarding experts and random members of the American Psychiatric Association (APA) were shown eight brief clinical vignettes (four cases meeting criteria for HD, three with hoarding behaviour secondary to other mental disorders, and one with subclinical hoarding behaviour) and asked to decide the most appropriate diagnosis in each case. Participants were also asked about the perceived acceptability of the criteria and whether they supported the inclusion of HD in the main manual. Altogether, 211 experts and 48 APA members completed the survey (30% and 10% response rates, respectively). The sensitivity and specificity of the HD diagnosis and the individual criteria were high (80-90%) across various types of professionals, irrespective of their experience with hoarding cases. About 90% of participants in both samples thought the criteria would be very/somewhat acceptable for professionals and sufferers. Most experts (70%) supported the inclusion of HD in the main manual, whereas only 50% of the APA members did. The proposed criteria for HD have high sensitivity and specificity. The criteria are also deemed acceptable for professionals and sufferers alike. Training of professionals and the development and validation of semi-structured diagnostic instruments should improve diagnostic accuracy even further. A field trial is now needed to confirm these encouraging findings with real patients in real clinical settings.

  9. [Pathological Internet use--epidemiology, diagnostics, co-occurring disorders and treatment].

    PubMed

    Petersen, K U; Weymann, N; Schelb, Y; Thiel, R; Thomasius, R

    2009-05-01

    In 2009, we can look back on a history of 40 years of internet use. While most consumers make use of the internet in a controlled fashion, a progressive loss of the ability to control the frequency and duration of internet activities emerges in some users. As a consequence, the excessive time devoted to internet use and the behavioural narrowing can lead to dramatic psychosocial outcomes. This phenomenon is referred to as "pathological internet use" (PIU). On behalf of the German ministry of health a systematic review of the literature since 1996 has been carried out. The main results will be presented in this review. Prevalence data on pathological internet use are limited by methodological difficulties concerning the diagnosis and the heterogeneity of diagnostical instruments. International prevalence rates range from 1.5 % to 8.2 %. Annual studies on representative samples of the German population describe their internet use and patterns of use, but information on the prevalence of PIU is missing. Diagnostical instruments are needed that show sufficient reliability and validity and allow international comparisons. Research on the Dutch "Compulsive Internet Use Scale" may close this gap. Cross-sectional studies on samples of patients report high comorbidity of PIU with psychiatric disorders, e. g. affective disorder and attention deficit hyperactivity disorder (ADHD). If PIU and these co-occurring disorders could be explained by shared risk factors or better as secondary disorders is largely unknown. The treatment currently is based on therapeutical interventions and strategies successful in the treatment of substance use disorders. Due to the lack of methodological sufficient research it is currently impossible to recommend any evidence-based treatment of PIU.

  10. Is the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, histrionic personality disorder category a valid construct?

    PubMed

    Bakkevig, Jonas F; Karterud, Sigmund

    2010-01-01

    The study investigated crucial aspects of the construct validity of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) histrionic personality disorder (HPD) category. The study included 2289 patients from the Norwegian Network of Psychotherapeutic Day Hospitals. Construct validity was assessed by means of prevalence, comorbidity with other personality disorders, internal consistency among HPD criteria, severity indices, as well as factor analyses. The prevalence of HPD was very low (0.4 %). The comorbidity was high, especially with borderline, narcissistic, and dependent personality disorders. The internal consistency was low. The criteria seemed to form 2 separate clusters: the first contained exhibitionistic and attention-seeking traits and the other contained impressionistic traits. The results indicated poor construct validity of the HPD category. Different options for the future of the category are discussed. The authors suggest the HPD category to be deleted from the DSM system. However, the clinical phenomena of exhibitionism and attention-seeking, which are the dominant personality features of HPD, should be preserved in an exhibitionistic subtype of narcissism. Copyright 2010 Elsevier Inc. All rights reserved.

  11. Diagnostic Concordance between DSM-5 and ICD-10 Cannabis Use Disorders.

    PubMed

    Proctor, Steven L; Williams, Daniel C; Kopak, Albert M; Voluse, Andrew C; Connolly, Kevin M; Hoffmann, Norman G

    2016-07-01

    With the recent federal mandate that all U.S. health care settings transition to ICD-10 billing codes, empirical evidence is necessary to determine if the DSM-5 designations map to their respective ICD-10 diagnostic categories/billing codes. The present study examined the concordance between DSM-5 and ICD-10 cannabis use disorder diagnoses. Data were derived from routine clinical assessments of 6871 male and 801 female inmates recently admitted to a state prison system from 2000 to 2003. DSM-5 and ICD-10 diagnostic determinations were made from algorithms corresponding to the respective diagnostic formulations. Past 12-month prevalence rates of cannabis use disorders were comparable across classification systems. The vast majority of inmates with no DSM-5 diagnosis continued to have no diagnosis per the ICD-10, and a similar proportion with a DSM-5 severe diagnosis received an ICD-10 dependence diagnosis. Most of the variation in diagnostic classifications was accounted for by those with a DSM-5 moderate diagnosis in that approximately half of these cases received an ICD-10 dependence diagnosis while the remaining cases received a harmful use diagnosis. Although there appears to be a generally high level of agreement between diagnostic classification systems for those with no diagnosis or those evincing symptoms of a more severe condition, concordance between DSM-5 moderate and ICD-10 dependence diagnoses was poor. Additional research is warranted to determine the appropriateness and implications of the current DSM-5 coding guidelines regarding the assignment of an ICD-10 dependence code for those with a DSM-5 moderate diagnosis. Copyright © 2016 Elsevier Ltd. All rights reserved.

  12. Cognitive Function as a Trans-Diagnostic Treatment Target in Stimulant Use Disorders

    PubMed Central

    Sofuoglu, Mehmet; DeVito, Elise E.; Waters, Andrew J.; Carroll, Kathleen M.

    2016-01-01

    Stimulant use disorder is an important public health problem, with an estimated 2.1 million current users in the United States alone. No pharmacological treatments are approved by the U.S. Food and Drug Administration (FDA) for stimulant use disorder and behavioral treatments have variable efficacy and limited availability. Most individuals with stimulant use disorder have other comorbidities, most with overlapping symptoms and cognitive impairments. The goal of this article is to present a rationale for cognition as a treatment target in stimulant use disorder, and to outline potential treatment approaches. Rates of lifetime comorbid psychiatric disorders among people with stimulant use disorders are estimated at 65% - 73%, with the most common being mood disorders (13% - 64%) and anxiety disorders (21% - 50%), as well as non-substance induced psychotic disorders (under 10%). There are several models of addictive behavior, but the dual process model particularly highlights the relevance of cognitive impairments and biases to the development and maintenance of addiction. This model explains addictive behavior as a balance between automatic processes and executive control, which in turn are related to individual (genetics, comorbid disorders, psychosocial factors) and other (craving, triggers, drug use) factors. Certain cognitive impairments, such as attentional bias and approach bias, are most relevant to automatic processes, while sustained attention, response inhibition, and working memory are primarily related to executive control. These cognitive impairments and biases are also common in disorders frequently comorbid with stimulant use disorder, and predict poor treatment retention and clinical outcomes. As such, they may serve as feasible trans-diagnostic treatment targets. There are promising pharmacological, cognitive, and behavioral approaches that aim to enhance cognitive function. Pharmacotherapies target cognitive impairments associated with executive

  13. Diagnostic accuracy of methacholine challenge tests assessing airway hyperreactivity in asthmatic patients - a multifunctional approach.

    PubMed

    Kraemer, Richard; Smith, Hans-Jürgen; Sigrist, Thomas; Giger, Gabi; Keller, Roland; Frey, Martin

    2016-11-17

    There are few studies comparing diagnostic accuracy of different lung function parameters evaluating dose-response characteristics of methacholine (MCH) challenge tests (MCT) as quantitative outcome of airway hyperreactivity (AHR) in asthmatic patients. The aim of this retrospectively analysis of our database (Clinic Barmelweid, Switzerland) was, to assess diagnostic accuracy of several lung function parameters quantitating AHR by dose-response characteristics. Changes in effective specific airway conductance (sGeff) as estimate of the degree of bronchial obstruction were compared with concomitantly measured forced expiratory volume in 1 s (FEV1) and forced expiratory flows at 50% forced vital capacity (FEF50). According to the GINA Guidelines the patients (n = 484) were classified into asthmatic patients (n = 337) and non-asthmatic subjects (n = 147). Whole-body plethysmography (CareFusion, Würzburg, Germany) was performed using ATS-ERS criteria, and for the MCTs a standardised computer controlled protocol with 3 consecutive cumulative provocation doses (PD1: 0.2 mg; PD2: 1.0 mg; PD3: 2.2 mg) was used. Break off criterion for the MCTs were when a decrease in FEV1 of 20% was reached or respiratory symptoms occurred. In the assessment of AHR, whole-body plethysmography offers in addition to spirometry indices of airways conductance and thoracic lung volumes, which are incorporated in the parameter sGeff, derived from spontaneous tidal breathing. The cumulative percent dose-responses at each provocation step were at the 1(st) level step (0.2 mg MCH) 3.7 times, at the 2(nd) level step (1 mg MCH) 2.4 times, and at the 3(rd) level step (2.2 mg MCH) 2.0 times more pronounced for sGeff, compared to FEV1. A much better diagnostic odds ratio of sGeff (7.855) over FEV1 (6.893) and FEF50 (4.001) could be found. Moreover, the so-called dysanapsis, and changes of end-expiratory lung volume were found to be important determinants of AHR. Applying

  14. 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

  15. Sensitivity and specificity of the amer dizziness diagnostic scale (adds) for patients with vestibular disorders.

    PubMed

    Al Saif, Amer; Alsenany, Samira

    2015-01-01

    [Purpose] To investigate the sensitivity and specificity of a newly developed diagnostic tool, the Amer Dizziness Diagnostic Scale (ADDS), to evaluate and differentially diagnose vestibular disorder and to identify the strengths and weaknesses of the scale and its usefulness in clinical practice. [Subjects and Methods] Two hundred subjects of both genders (72 males, 128 females) aged between 18 to 60 (49.5±7.8) who had a history of vertigo and/or dizziness symptoms for this previous two weeks or less were recruited for the study. All subjects were referred by otolaryngologists, neurologists or family physicians in and around Jeddah, Kingdom of Saudi Arabia. On the first clinic visit, all the patients were evaluated once using the ADDS, following which they underwent routine testing of clinical signs and symptoms, audiometry, and a neurological examination, coupled with tests of Vestibulo-Ocular Reflex function, which often serves as the "gold standard" for determining the probability of a vestibular deficit. [Results] The results show that the ADDS strongly correlated with "true-positive" and "true-negative" responses for determining the probability of a vestibular disorder (r =0.95). A stepwise linear regression was conducted and the results indicate that the ADDS was a significant predictor of "true-positive" and "true-negative" responses in vestibular disorders (R(2) =0.90). Approximately 90% of the variability in the vestibular gold standard test was explained by its relationship to the ADDS. Moreover, the ADDS was found to have a sensitivity of 96% and a specificity of 96%. [Conclusion] This study showed that the Amer Dizziness Diagnostic Scale has high sensitivity and specificity and that it can be used as a method of differential diagnosis for patients with vestibular disorders.

  16. Optic Neuropathy Secondary to Polyarteritis Nodosa, Case Report, and Diagnostic Challenges.

    PubMed

    Vazquez-Romo, Kristian A; Rodriguez-Hernandez, Adrian; Paczka, Jose A; Nuño-Suarez, Moises A; Rocha-Muñoz, Alberto D; Zavala-Cerna, Maria G

    2017-01-01

    To describe a case of optic neuropathy as a primary manifestation of polyarteritis nodosa (PAN) and discuss diagnostic challenges. Case report. A 41-year-old Hispanic man presented with a 2-day history of reduced visual acuity in his left eye. Physical examination revealed a complete visual field loss in the affected eye. Best-corrected visual acuity (BCVA) in the left eye was hand motion, and fundus examination revealed a hyperemic optic disk with blurred margins, swelling, retinal folds, dilated veins, and normal size arteries. BCVA in the right eye was 20/20; no anomalies were seen during examination of the fundus. The patient was started on oral corticosteroids and once the diagnosis of PAN was made, cyclophosphamide was added to the treatment regimen. Six months later, the patient recovered his BCVA to 20/20 in his left eye. Rarely does optic neuropathy present as a primary manifestation of PAN; nevertheless, it represents an ophthalmologic emergency that requires expeditious anti-inflammatory and immunosuppressive treatment to decrease the probability of permanent visual damage. Unfortunately, diagnosing PAN is challenging as it necessitates a high index of suspicion. In young male patients who present for the first time with diminished visual acuity, ophthalmologists become cornerstones in the suspicion of this diagnosis and should be responsible for continuing the study until a diagnosis is reached to ensure rapid commencement of immunosuppressive treatment.

  17. Overview of Double Shell Designs and Challenges for Fabrication and Diagnostics

    NASA Astrophysics Data System (ADS)

    Batha, S. H.; Montgomery, D. S.; Daughton, W. S.; Merritt, E. C.; Dodd, E. S.; Wilson, D. C.; Cardenas, T.; Kline, J. L.

    2016-10-01

    Double shell capsules are predicted to ignite and burn at relatively low temperatures ( 3 keV) via volume ignition, and are a potential low-convergence path to substantial α-heating and ignition on NIF. Double shells consist of a dense, high-Z pusher, which first shock heats then performs PdV work on a DT fuel volume, bringing the entire fuel volume up to high pressure thermonuclear conditions near implosion stagnation. The high-Z pusher is accelerated via a shock and subsequent collision from an ablatively-driven low-Z outer shell. A broad capsule design parameter space exists due to the inherent flexibility of potential materials for the outer and inner shells and intervening foam cushion. This is narrowed down by design physics choices and the ability to fabricate and assemble a double shell capsule. We describe tradeoffs in various design choices for double shell capsules, and challenges for capsule fabrication. The dense, high-Z inner shell also presents diagnostic challenges and opportunities, which we will present. Work performed under the auspices of DOE by LANL under contract DE-AC52-06NA25396.

  18. 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.

  19. Obsessive-compulsive disorder for ICD-11: proposed changes to the diagnostic guidelines and specifiers

    PubMed Central

    Simpson, Helen Blair; Reddy, Y. C. Janardhan

    2016-01-01

    Since the approval of the ICD-10 by the World Health Organization (WHO) in 1990, global research on obsessive-compulsive disorder (OCD) has expanded dramatically. This article evaluates what changes may be needed to enhance the scientific validity, clinical utility, and global applicability of OCD diagnostic guidelines in preparation for ICD-11. Existing diagnostic guidelines for OCD were compared. Key issues pertaining to clinical description, differential diagnosis, and specifiers were identified and critically reviewed on the basis of the current literature. Specific modifications to ICD guidelines are recommended, including: clarifying the definition of obsessions (i.e., that obsessions can be thoughts, images, or impulses/urges) and compulsions (i.e., clarifying that these can be behaviors or mental acts and not calling these “stereotyped”); stating that compulsions are often associated with obsessions; and removing the ICD-10 duration requirement of at least 2 weeks. In addition, a diagnosis of OCD should no longer be excluded if comorbid with Tourette syndrome, schizophrenia, or depressive disorders. Moreover, the ICD-10 specifiers (i.e., predominantly obsessional thoughts, compulsive acts, or mixed) should be replaced with a specifier for insight. Based on new research, modifications to the ICD-10 diagnostic guidelines for OCD are recommended for ICD-11. PMID:25388607

  20. Measurement Issues: Screening and diagnostic instruments for autism spectrum disorders – lessons from research and practice

    PubMed Central

    Charman, Tony; Gotham, Katherine

    2012-01-01

    Background and Scope Significant progress has been made over the past two decades in the development of screening and diagnostic instruments for autism spectrum disorders (ASD). This article reviews this progress, including recent innovations, focussing on those instruments for which the strongest research data on validity exists, and then turns to addressing issues arising from their use in clinical settings. Findings Research studies have evaluated the ability of screens to prospectively identify cases of ASD in population-based and clinically-referred samples, as well as the accuracy of diagnostic instruments to map onto ‘gold standard’ clinical best estimate diagnosis. However, extension of the findings to clinical services must be done with caution, with a full understanding that instrument properties are sample-specific. Furthermore, we are limited by the lack of a true test for ASD, which remains a behaviourally-defined disorder. In addition screening and diagnostic instruments help clinicians least in the cases where they are most in want of direction, since their accuracy will always be lower for marginal cases. Conclusion Instruments help clinicians to collect detailed, structured information and increase accuracy and reliability of referral for in-depth assessment and recommendations for support, but further research is needed to refine their effective use in clinical settings. PMID:23539140