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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.

  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. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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

  10. 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).

  11. 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.

  12. 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.

  13. 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.

  14. 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

  15. 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.

  16. 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.

  17. 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

  18. [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.

  19. [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.

  20. Lipedema: diagnostic and management challenges

    PubMed Central

    Warren Peled, Anne; Kappos, Elisabeth A

    2016-01-01

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

  1. Gorham's disease: A diagnostic challenge

    PubMed Central

    Saify, Fatema Y; Gosavi, Suchitra R

    2014-01-01

    Gorham's disease is a rare disorder of uncertain etiology characterized by spontaneous and progressive osteolysis of one or more skeletal bones. Till date, less than 200 cases have been reported in the international literature with about 51 cases involving the maxillofacial site. The radiographic findings associated with Gorham's disease are particularly dramatic, as in some cases a complete resorption of the involved bone can occur, leading to the definition of phantom bone or disappearing bone disease. The purpose of this review is to make our community aware of this rare entity and to discuss the etiopathology, clinical presentation, radiographic findings, histopathology, differential diagnoses and treatment modalities for patients with vanishing bone disease. PMID:25948997

  2. Chronic Meningitis: Simplifying a Diagnostic Challenge.

    PubMed

    Baldwin, Kelly; Whiting, Chris

    2016-03-01

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

  3. 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

  4. 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

  5. [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.

  6. 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.

  7. 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

  8. [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.

  9. 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

  10. 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.

  11. 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

  12. 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

  13. 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.

  14. 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

  15. 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.

  16. 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

  17. 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.…

  18. 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.

  19. 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.

  20. Thrombotic thrombocytopenic purpura: three peripartum cases and diagnostic challenges.

    PubMed

    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.

  1. 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

  2. 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.

  3. 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)

  4. 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.

  5. 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.

  6. 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

  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. 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.

  9. 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.

  10. 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

  11. 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

  12. 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

  13. 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.

  14. 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

  15. 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…

  16. 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.

  17. [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.

  18. 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

  19. 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.

  20. 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

  1. 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.

  2. 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.

  3. 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

  4. 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

  5. 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.

  6. 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

  7. 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

  8. 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…

  9. 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…

  10. 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…

  11. 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

  12. 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

  13. 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

  14. 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.

  15. 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…

  16. 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.

  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. 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.

  19. [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.

  20. 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.

  1. 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

  2. Atypical orofacial pain disorders: a study of diagnostic subtypes.

    PubMed

    Fricton, J R

    2000-01-01

    Atypical facial pain is a persistent pain in the face or intraoral region that does not fit into the diagnostic criteria associated with specific orofacial pain disorders. This article presents the results of a study, which showed that in most cases of presumed atypical facial pain, there is a specific physical diagnosis or multiple diagnoses that causes the persistent pain. These difficult to diagnose disorders are reviewed with discussion of future research that is needed in this area.

  3. 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.

  4. 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.

  5. 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.

  6. 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…

  7. 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.

  8. 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

  9. 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

  10. 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.

  11. 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…

  12. 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

  13. 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

  14. 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.

  15. [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.

  16. 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.

  17. [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.

  18. 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.

  19. [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.

  20. 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.

  1. TMJ disorders: future innovations in diagnostics and therapeutics.

    PubMed

    Wadhwa, Sunil; Kapila, Sunil

    2008-08-01

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

  2. 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.

  3. [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.

  4. 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.

  5. 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.

  6. 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

  7. 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.

  8. 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

  9. 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.

  10. 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.

  11. 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.

  12. 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.

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

    PubMed

    2016-05-01

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

  14. 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

  15. 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.

  16. 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.

  17. 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.

  18. 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…

  19. 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.

  20. The Research Diagnostic Criteria for Temporomandibular Disorders. VI: future directions.

    PubMed

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

    2010-01-01

    The Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) Validation Project has 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 the five preceding articles in this series. The aim of this article is to present further revisions of Axis I and II 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 ( < or = 0.70) and specificity (< or = 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 for exploring methods to better integrate Axis I and II in clinical settings.

  1. 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

  2. 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.

  3. 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.

  4. 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

  5. Diagnostic and clinical considerations in prolonged grief disorder

    PubMed Central

    Maercker, Andreas; Lalor, John

    2012-01-01

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

  6. [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.

  7. 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.

  8. 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

  9. 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.

  10. 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.

  11. 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

  12. 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.

  13. 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

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

    PubMed Central

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

    2014-01-01

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

  15. 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.

  16. 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.

  17. [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.

  18. 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…

  19. Clinical and diagnostic aspects of gluten related disorders.

    PubMed

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

    2015-03-16

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

  20. 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…

  1. 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

  2. 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

  3. 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

  4. 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.

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  6. 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.

  7. 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.

  8. 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.

  9. 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…

  10. 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.

  11. 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…

  12. 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

  13. 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.

  14. 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

  15. 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

  16. 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.

  17. 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.

  18. 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…

  19. 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.

  20. 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.

  1. 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

  2. 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

  3. Challenges to developing proteomic-based breast cancer diagnostics.

    PubMed

    Drake, Richard R; Cazares, Lisa H; Jones, E Ellen; Fuller, Thomas W; Semmes, O John; Laronga, Christine

    2011-05-01

    Over the past decade, multiple genetic and histological approaches have accelerated development of new breast cancer diagnostics and treatment paradigms. Multiple distinct genetic subtypes of breast cancers have been defined, and this has progressively led toward more personalized medicine in regard to treatment options. There still remains a deficiency in the development of molecular diagnostic assays that can be used for breast cancer detection and pretherapy clinical decisions. In particular, the type of cancer-specific biomarker typified by a serum or tissue-derived protein. Progress in this regard has been minimal, especially in comparison to the rapid advancements in genetic and histological assays for breast cancers. In this review, some potential reasons for this large gap in developing protein biomarkers will be discussed, as well as new strategies for improving these approaches. Improvements in the study design of protein biomarker discovery strategies in relation to the genetic subtypes and histology of breast cancers is also emphasized. The current successes in use of genetic and histological assays for breast cancer diagnostics are summarized, and in that context, the current limitations of the types of breast cancer-related clinical samples available for protein biomarker assay development are discussed. Based on these limitations, research strategies emphasizing identification of glycoprotein biomarkers in blood and MALDI mass spectrometry imaging of tissues are described.

  4. 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.

  5. 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

  6. 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.

  7. [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.

  8. 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

  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. 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.

  11. 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

  12. 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

  13. 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.

  14. 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

  15. 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

  16. 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.

  17. 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.

  18. 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).

  19. 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…

  20. 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…

  1. 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

  2. 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.

  3. 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.

  4. [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.

  5. 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.

  6. 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.

  7. 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.

  8. 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

  9. [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.

  10. 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…

  11. 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…

  12. 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…

  13. 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.

  14. 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.

  15. 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

  16. 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.

  17. 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.

  18. 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

  19. 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.

  20. [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.

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

    PubMed

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

    2009-09-01

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

  2. 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.

  3. 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…

  4. 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

  5. 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

  6. 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.

  7. 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

  8. 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.

  9. 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…

  10. 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.

  11. 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

  12. 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.

  13. 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.

  14. 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

  15. 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

  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. 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

  18. 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.

  19. 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

  20. 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.

  1. 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.

  2. 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

  3. 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.

  4. [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.

  5. 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.

  6. [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.

  7. 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

  8. [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.

  9. [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.

  10. [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%).

  11. [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.

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 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…

  17. 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.

  18. 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.

  19. 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.

  20. 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

  1. 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…

  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. 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…

  4. 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…

  5. 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…

  6. 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…

  7. 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…

  8. 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.…

  9. 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.

  10. 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.

  11. 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

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

    ERIC Educational Resources Information Center

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

    2013-01-01

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

  13. 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

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

    PubMed

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

    2015-12-01

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

  15. 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.

  16. 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

  17. 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

  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. [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.

  20. 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…

  1. 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.

  2. 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

  3. 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.

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2012-12-01

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

  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. 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…

  8. 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

  9. 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…

  10. 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…

  11. 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

  12. 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.

  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. 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

  15. 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…

  16. 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

  17. 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.

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

    PubMed

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

    2009-12-01

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

  19. 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.

  20. 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.

  1. 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.

  2. 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

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

    PubMed

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

    2013-07-01

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

  4. 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. 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

  6. 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.

  7. 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

  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. 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

  10. 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

  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. 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.

  13. 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.

  14. 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

  15. 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.

  16. 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,…

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

    PubMed

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

    2014-11-01

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

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

    PubMed

    2016-05-01

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

  19. [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.

  20. 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.

  1. 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.

  2. 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

  3. 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

  4. 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.

  5. 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.

  6. 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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

    Hagman, Brett T; Cohn, Amy M

    2012-01-01

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

  9. Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development

    PubMed Central

    Fan, Yanjie; Zhang, Xia; Wang, Lili; Wang, Ruifang; Huang, Zhuo; Sun, Yu; Yao, Ruen; Huang, Xiaodong; Ye, Jun; Han, Lianshu; Qiu, Wenjuan; Zhang, Huiwen; Liang, Lili; Gu, Xuefan; Yu, Yongguo

    2017-01-01

    Disorders of sexual development (DSD) are estimated to occur in 1 of 4500 births. Since the genetic etiology of DSD is highly heterogeneous, obtaining a definitive molecular diagnosis by single gene test is challenging. Utilizing a high-throughput sequencing upfront is proposed as an efficient approach to aid in the diagnosis. This study aimed to examine the diagnostic yield of next-generation sequencing in DSD. 32 DSD patients that previously received clinical examinations and single gene tests were selected, with or without a diagnosis. Prior single gene tests were masked, and then samples went through targeted next-generation sequencing of 80 genes from which the diagnostic yield was assessed. A likely diagnosis, with pathogenic or likely pathogenic variants identified, was obtained from nine of the 32 patients (i.e., 28.1%, versus 10% by single gene tests). In another five patients (15.6%), variants of uncertain significance were found. Among 18 variants identified (i.e., 17 single nucleotide variants and one small deletion), eight had not been previously reported. This study supports the notion that next-generation sequencing can be an efficient tool in the clinical diagnosis and variant discovery in DSD. PMID:28295047

  10. Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.

    PubMed

    Fan, Yanjie; Zhang, Xia; Wang, Lili; Wang, Ruifang; Huang, Zhuo; Sun, Yu; Yao, Ruen; Huang, Xiaodong; Ye, Jun; Han, Lianshu; Qiu, Wenjuan; Zhang, Huiwen; Liang, Lili; Gu, Xuefan; Yu, Yongguo

    2017-03-15

    Disorders of sexual development (DSD) are estimated to occur in 1 of 4500 births. Since the genetic etiology of DSD is highly heterogeneous, obtaining a definitive molecular diagnosis by single gene test is challenging. Utilizing a high-throughput sequencing upfront is proposed as an efficient approach to aid in the diagnosis. This study aimed to examine the diagnostic yield of next-generation sequencing in DSD. 32 DSD patients that previously received clinical examinations and single gene tests were selected, with or without a diagnosis. Prior single gene tests were masked, and then samples went through targeted next-generation sequencing of 80 genes from which the diagnostic yield was assessed. A likely diagnosis, with pathogenic or likely pathogenic variants identified, was obtained from nine of the 32 patients (i.e., 28.1%, versus 10% by single gene tests). In another five patients (15.6%), variants of uncertain significance were found. Among 18 variants identified (i.e., 17 single nucleotide variants and one small deletion), eight had not been previously reported. This study supports the notion that next-generation sequencing can be an efficient tool in the clinical diagnosis and variant discovery in DSD.

  11. 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

  12. Transcranial sonography (TCS) of brain parenchyma in movement disorders: quality standards, diagnostic applications and novel technologies.

    PubMed

    Walter, U; Školoudík, D

    2014-08-01

    Transcranial B-mode sonography (TCS) of brain parenchyma is being increasingly used as a diagnostic tool in movement disorders. Compared to other neuroimaging modalities such as magnetic resonance imaging (MRI) and computed tomography, TCS can be performed today with portable machines and has the advantages of noninvasiveness and high resistance to movement artifacts. In distinct brain disorders TCS detects abnormalities that cannot be visualized or can only be visualized with significant effort with other imaging methods. In the field of movement disorders, TCS has been established mainly as a tool for the early and differential diagnosis of Parkinson's disease. The postoperative position control of deep brain stimulation electrodes, especially in the subthalamic nucleus, can reliably and safely be performed with TCS.  The present update review summarizes the current methodological standards and defines quality criteria of adequate TCS imaging and assessment of diagnostically relevant deep brain structures such as substantia nigra, brainstem raphe, basal ganglia and ventricles. Finally, an overview is given on recent technological advances including TCS-MRI fusion imaging and upcoming technologies of digitized image analysis aiming at a more investigator-independent assessment of deep brain structures on TCS.

  13. 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

  14. 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

  15. 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.

  16. How Voting and Consensus Created the Diagnostic and Statistical Manual of Mental Disorders (DSM-III).

    PubMed

    Davies, James

    2017-04-01

    This paper examines how Task Force votes were central to the development of Diagnostic and Statistical Manual of Mental Disorders (DSM-III and DSM-III-R). Data were obtained through a literature review, investigation of DSM archival material housed at the American Psychiatric Association (APA), and interviews with key Task Force members of DSM-III and DSM-III-R. Such data indicate that Task Force votes played a central role in the making of DSM-III, from establishing diagnostic criteria and diagnostic definitions to settling questions about the inclusion or removal of diagnostic categories. The paper concludes that while the APA represented DSM-III, and the return to descriptive psychiatry it inaugurated, as a triumph of empirically based decision-making, the evidence presented here fails to support that view. Since the DSM is a cumulative project, and as DSM-III lives on through subsequent editions, this paper calls for a more socio-historically informed understanding of DSM's construction to be deployed in how the DSM is taught and implemented in training and clinical settings.

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

    PubMed

    Parnas, Josef; Jansson, Lennart B

    2015-01-01

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

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

    PubMed

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

    2017-02-23

    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) assessments were collected from two Australian sites. Twenty-seven Australian health professionals each observed two video-recordings and rated the degree to which the individual met the DSM-5 criteria for ASD. There was 100% agreement on the diagnostic classification for only 3 of the 9 video clips (33%), with the remaining 6 clips (66%) reaching poor reliability. In addition, only 24% of the participating clinicians achieved 'good' or 'excellent' levels of agreement (Cohen's kappa > 0.6) with the original ASD assessment. These findings have implications for clinical guidelines for ASD assessments.

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

    ERIC Educational Resources Information Center

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

    2008-01-01

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

  20. Challenges in the treatment of factitious disorder: a case study.

    PubMed

    Hagglund, Leigh A

    2009-02-01

    Factitious disorder is difficult to diagnose and effectively treat. It is often met with intense emotion by both the care provider(s) and the client when suspected. However, if missed or untreated, it can become a chronic syndrome that is expensive and potentially dangerous. This article examines barriers to successful treatment of factitious disorder as manifested by a woman who received services from an urban community mental health center over a 7-year period for the management of multiple mental health issues. The unique role of the advanced practice psychiatric nurse is discussed through application of the nursing theory modeling and role modeling.

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

    PubMed Central

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

    2015-01-01

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

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

    ERIC Educational Resources Information Center

    Worley, Julie A.; Matson, Johnny L.

    2012-01-01

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

  3. Advanced diagnostic approaches and current management of internal disorders of select species (rodents, sugar gliders, hedgehogs).

    PubMed

    Evans, Erika E; Souza, Marcy J

    2010-09-01

    African pygmy and European hedgehogs, sugar gliders, and rodents such as rats, mice, gerbils, hamsters, guinea pigs, and chinchillas are becoming increasingly popular as pets in the United States, and more practitioners are being asked to examine, diagnose, and treat these animals for a bevy of disorders and diseases. Many procedures and techniques used in traditional small and large animal medicine are used for these species, with minor adaptations or considerations. This article examines available diagnostic tools and treatment methodologies for use in hedgehogs, sugar gliders, and selected rodents.

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

    PubMed

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

    2015-08-31

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

  5. The clinical inadequacy of the DSM-5 classification of somatic symptom and related disorders: an alternative trans-diagnostic model.

    PubMed

    Cosci, Fiammetta; Fava, Giovanni A

    2016-08-01

    The Diagnostic and Statistical of Mental Disorders, Fifth Edition (DSM-5) somatic symptom and related disorders chapter has a limited clinical utility. In addition to the problems that the single diagnostic rubrics and the deletion of the diagnosis of hypochondriasis entail, there are 2 major ambiguities: (1) the use of the term "somatic symptoms" reflects an ill-defined concept of somatization and (2) abnormal illness behavior is included in all diagnostic rubrics, but it is never conceptually defined. In the present review of the literature, we will attempt to approach the clinical issue from a different angle, by introducing the trans-diagnostic viewpoint of illness behavior and propose an alternative clinimetric classification system, based on the Diagnostic Criteria for Psychosomatic Research.

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

    ERIC Educational Resources Information Center

    Waggoner, Darrel J.; Tan, Christopher A.

    2011-01-01

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

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

    PubMed

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

    2012-11-01

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

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

    PubMed

    Blashfield, Roger K; Fuller, A Kenneth

    2016-06-01

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

  9. Screening of personality disorders among chinese college students by Personality Diagnostic Questionnaire-4+.

    PubMed

    Huang, Xiting; Ling, Hui; Yang, Bingjun; Dou, Gang

    2007-08-01

    Four thousand eight hundred and eleven students were sampled from 26 universities in 21 cities of China and evaluated using the Personality Diagnostic Questionnaire-4+(PDQ-4+). Results showed that male students obtained significantly higher scores than female students on paranoid, schizotypal, antisocial, narcissistic, passive-aggressive, and depressive personality disorder scales, and lower scores on the borderline scale. Students from rural areas scored higher than those from urban areas on the schizoid, schizotypal, narcissistic, avoidant, compulsive-obsessive, passive-aggressive, and depressive personality disorder scales, and lower on the paranoid and dependent scales. Singleton students obtained significantly higher scores than nonsingletons on paranoid, antisocial and dependent scales, and lower on schizoid, avoidant, compulsive-obsessive, passive-aggressive, depressive scales. Students from single-parent families scored significantly higher on the schizotypal scales; and students from foster families scored significantly higher on the antisocial, passive-aggressive, and depressive scales. Students from poor families scored significantly higher than those from average or wealthy families on schizoid, schizotyal, antisocial, borderline, narcissistic, avoidant, obsessive-compulsive, passive-aggressive, and depressive personality disorders. The results suggest that low family income, low social status, and parental style contribute to the development of personality disorders.

  10. The DSM diagnostic criteria for hypoactive sexual desire disorder in women.

    PubMed

    Brotto, Lori A

    2010-04-01

    Hypoactive Sexual Desire Disorder (HSDD) is one of two sexual desire disorders in the Diagnostic and Statistical Manual of Mental Disorders (DSM) and is defined by the monosymptomatic criterion "persistently or recurrently deficient (or absent) sexual fantasies and desire for sexual activity" that causes "marked distress or interpersonal difficulty." This article reviews the diagnosis of HSDD in prior and current (DSM-IV-TR) editions of the DSM, critiques the existing criteria, and proposes criteria for consideration in DSM-V. Problems in coming to a clear operational definition of desire, the fact that sexual activity often occurs in the absence of desire for women, conceptual issues in understanding untriggered versus responsive desire, the relative infrequency of unprovoked sexual fantasies in women, and the significant overlap between desire and arousal are reviewed and highlight the need for revised DSM criteria for HSDD that accurately reflect women's experiences. The article concludes with the recommendation that desire and arousal be combined into one disorder with polythetic criteria.

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

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

    ERIC Educational Resources Information Center

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

    2011-01-01

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

  13. Treatment of Adolescent Eating Disorders: Progress and Challenges

    PubMed Central

    Lock, James

    2010-01-01

    Objective Although eating disorders are common psychiatric disorders that usually onset during adolescence, few evidence-based treatments for this age group have been identified. A critical review of treatments used for Anorexia Nervosa (AN) and Bulimia Nervosa (BN) and related conditions (EDNOS) is provided that summarizes the rationale for the treatments, evidence of effectiveness available, and outcomes. Method Critical review of published randomized clinical trials (RCTs). Results There are only seven published RCTs of psychotherapy for AN in adolescents with a total of 480 subjects. There are only two published RCTs for outpatient psychotherapy for adolescent BN with a total of 165 subjects. There are no published RCTs examining medications for adolescent AN or BN. For adolescent AN, Family-Based Treatment (FBT) is the treatment with the most evidence supporting its use. Three RCTs suggest that FBT is superior to individual therapy at the end of treatment; however, at follow-up differences between individual and family approaches are generally reduced. For adolescent BN, one study found no differences between Cognitive Behavioral Therapy and FBT at the end of treatment or follow-up, while the other found FBT superior to individual therapy. Conclusions Although the evidence remains limited, FBT appears to be the first line treatment for adolescent AN. There is little evidence to support a specific treatment for adolescent BN. There is a need for additional studies of treatment of child and adolescent eating disorders. New treatments studies may build on current evidence as well as examine new approaches based on novel findings in the neurosciences about cognitive and emotional processes in eating disorders. PMID:21532979

  14. How Should We Revise Diagnostic Criteria for Substance Use Disorders in the DSM—V?

    PubMed Central

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

    2009-01-01

    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. PMID:18729609

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

  16. Lost in Translation? Ethical Challenges of Implementing a New Diagnostic Procedure.

    PubMed

    Schmitz, Dagmar

    2016-01-01

    Since cell-free DNA (cfDNA) fragments of placental origin can be isolated and analyzed from the blood of pregnant women. Applications of this finding have been developed and implemented in clinical care pathways worldwide at an unprecedented pace and manner. Implementation patterns, however, exhibit considerable insufficiencies. Different "motors" of implementation processes, like the market or various regulatory institutions, can be identified at a national level. Each "motor" entails characteristic ethical challenges which are exemplified impressively by a rising number of case reports.Empirical data demonstrate that there are significant "losses" in the respective translational processes, especially when the results from clinical research are to be translated into the clinical reality of NIPT (the so called "second roadblock" (T2)). These "losses" are perceived in the fields of knowledge transfer, professional standardization and ethical debate. Recommendations of professional organizations often fail to reach general practitioners. Blindsided by the new diagnostic procedure in their clinical practice, professionals in prenatal care express their insecurities with regard to its handling. Ethical debate appears to adhere to pre-existing (and partly already proven to be insufficient) normative frameworks for prenatal testing. While all of these deficits are typical for the implementation processes of many new molecular diagnostic procedures, especially in NIPT, they show a high variability between different nations.A critical assessment of the preferred strategy of implementation against the background of already existing national ethical frameworks is indispensable, if potential adverse effects are to be diminished. The described translational losses seem to be significantly reducible by granting the translational process in roadblock T2 more time.

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

    PubMed

    Robertson, Mary May; Eapen, Valsamma

    2014-10-01

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

  18. Improving the diagnostic criteria for alcohol use disorders through survey methodology and cognitive interviewing.

    PubMed

    Mewton, Louise; Slade, Tim; Teesson, Maree; Memedovic, Sonja; Krueger, Robert F

    2014-09-01

    This study aims to identify problems in the structure and wording of questions designed to operationalize four DSM-IV diagnostic criteria for alcohol use disorders (AUDs): (1) use of alcohol in hazardous situations (hazard); (2) tolerance; (3) use of alcohol in larger amounts/longer periods than intended (larger/longer); (4) unsuccessful attempts to cut down or control alcohol use (quit/cut down). Ten experts appraised the questions related to these criteria in the WMH-CIDI according to a standardized checklist. These experts identified three main problems: (1) the double-barrelled nature of some of the questions; (2) definitional issues; and (3) unclear thresholds for criterion endorsement. Cognitive interviews of 100 young adult drinkers aged 18-24 were then conducted. The double-barrelled nature of the DSM-IV criteria led to their subsequent over- or under-endorsement. Key terms in the questions under investigation were defined inconsistently. There was also a large amount of variability in the thresholds at which larger/longer and quit/cut down were endorsed. Many of these problems could be linked back to the DSM-IV text. The findings raise questions as to the validity of AUD diagnoses when established via structured diagnostic interview. Further research should focus on testing alternative structure and wording of key AUD criteria to ensure accurate operationalizations of these criteria in structured diagnostic interviews.

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

    PubMed

    Morey, Leslie C; Skodol, Andrew E

    2013-05-01

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

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

    PubMed Central

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

    2012-01-01

    Two of the most commonly used nosological systems- International Statistical Classification of Diseases and Related Health Problems (ICD)-10 and Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV are under revision. This process has generated a lot of interesting debates with regards to future of the current diagnostic categories. In fact, the status of categorical approach in the upcoming versions of ICD and DSM is also being debated. The current article focuses on the debate with regards to the eating disorders. The existing classification of eating disorders has been criticized for its limitations. A host of new diagnostic categories have been recommended for inclusion in the upcoming revisions. Also the structure of the existing categories has also been put under scrutiny. PMID:23440448

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

    PubMed

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

    2012-07-01

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

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

    PubMed Central

    2013-01-01

    Background Current literature on Eating Disorders (EDs) is devoid of evidence-based findings providing support to effective treatments, mostly for anorexia nervosa (AN). This lack of successful guidelines may play a role in making these disorders even more resistant. In fact, many individuals do not respond to the available treatments and develop an enduring and disabling illness. With this overview we aimed to highlight and discuss treatment resistance in AN – with an in-depth investigation of resistance-related psychological factors. A literature search was conducted on PubMed and PsychINFO; English-language articles published between 1990 and 2013 investigating the phenomenon of resistance to treatment in AN have been considered. Discussion The selected papers have been then grouped into four main thematic areas: denial of illness; motivation to change; maintaining factors and treatment outcome; and therapeutic relationship. Eating symptomatology was found to only partially explain resistance to treatment. The role of duration of illness has been questioned whilst some maintaining factors seemed promising in providing a useful framework for this phenomenon. Emotive and relational aspects have been investigated on their role in resistance as well as therapists’ countertransference. Summary Remarkably there has been little research done on resistance to treatment in the ED field, in spite of its clinical relevance. Motivation, insight and subjective meaning of the illness can be useful tools to manage the resistance phenomenon when coupled with a wider approach. The latter enables the therapists to be aware of their role in the therapeutic alliance through countertransference aspects and to consider the EDs as disorders of the development of both personality and self, entailing severe impairments as regards identity and relationships. PMID:24199620

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

    PubMed

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

    2006-01-01

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

  4. Diagnostic role of skin or conjunctival biopsies in neurological disorders. An update.

    PubMed

    Ceuterick, C; Martin, J J

    1984-08-01

    Updated figures from our reports on electron microscopy of skin or conjunctival biopsies include 256 patients, mostly suffering from lysosomal diseases. Significant morphological data supportive of the diagnosis and additional to enzyme assay (when and if an assay is available for the disorder) were discovered in 95% of the cases. Equivocal or negative data amounted to 5%. The present paper deals with some metabolic disorders which had not been fully dealt with in our previous publications and with an extension of the indications of skin biopsies: adult form and atypical variants of ceroid-lipofuscinoses, galactosialidosis, mucolipidosis IV, infantile neuroaxonal dystrophy, Lafora's disease, cardiomyopathy with generalized accumulation of intermediate filaments and congenital hypomyelination neuropathy. A comparison between biopsy and autopsy material in storage diseases shows that the storage of inclusions does not remain limited to one cell type or to one tissue even if no clinical signs are detectable. This ubiquitous character of the storage can be used for diagnostic purposes. On the other hand, the membrane-bound inclusions are not necessarily similar in all cell types and the search for characteristic features can be difficult in adult patients. Finally it is evident that skin biopsies can be used in other conditions than lysosomal disorders. The applicability of this procedure to other diseases needs further exploratory work.

  5. The prevalence of clinical diagnostic groups in patients with temporomandibular disorders.

    PubMed

    Machado, Luciana Pimenta e Silva; Nery, Cláudio de Góis; Leles, Cláudio Rodrigues; Nery, Marianita Batista de Macedo; Okeson, Jeffrey P

    2009-07-01

    The aim of this study was to observe the prevalence of diagnostic groups of temporomandibular disorders (TMD) in patients who were referred or sought treatment for TMD and/or orofacial pain in a private clinic. The clinical records of 357 patients were evaluated and selected based on inclusion/exclusion criteria; the mean age was 32 years. A clinical examination was performed and the diagnosis was based on the American Academy of Orofacial Pain criteria. Results showed that 86.8% of patients were women and 93.3% of the patients presented more than one diagnosis. The most frequent chief complaint (n = 216, chi2 = 30.68, p = 0.001) and total diagnosis realized (n = 748, chi2 = 14.14, p = 0.001) were muscle related. We concluded that women seek treatment for dysfunction/disorders of orofacial structures more than men do; patients seeking specialized treatment have more than one diagnosis and muscle dysfunction is more prevalent than intra-articular disorders.

  6. Diagnostic and therapeutic challenges in extragonadal yolk sac tumor with hepatoid differentiation: A case report

    PubMed Central

    Zeremski, Vanja; Mawrin, Christian; Fischer, Thomas; Schalk, Enrico

    2017-01-01

    Yolk sac tumors (YSTs) are rare aggressive tumors, arising most commonly in the gonads and occurring mainly in young adults. We herein report a case of an extragonadal YST with hepatoid differentiation localized in the brain and lung. A 41-year old man presented to our hospital with a generalized seizure. A head computed tomography and magnetic resonance imaging examination revealed a large mass in the left occipital lobe with associated edema. Following complete resection, the histopathological examination revealed that the mass was a highly malignant epithelial tumor with a hepatoid pattern. The serum lactate dehydrogenase and α-fetoprotein levels were elevated. Additional diagnostic imaging revealed a lesion in the upper lobe of the right lung, but no other tumor manifestations. Based on the clinical and immunohistochemical characteristics, hepatocellular carcinoma and hepatoid adenocarcinoma were excluded and the diagnosis of extragonadal hepatoid YST was established. A multimodal therapeutic approach (high-dose chemotherapy with autologous stem cell transplantation, radiation and surgery) was applied; however, the patient succumbed to refractory disease 10 months after the diagnosis. Therefore, the diagnosis and treatment of hepatoid YST is an interdisciplinary challenge. PMID:28123734

  7. The Steady State Challenge for Soft X-Ray Diagnostics on Wendelstein 7-X Stellarator

    SciTech Connect

    Thomsen, H.; Broszat, T.; Mohr, S.; Weller, A.; Ye, M. Y.; Carvalho, P.

    2008-03-19

    The steady state operation of Wendelstein 7-X stellarator presently under construction in Greifswald poses special challenges to the diagnostics development [1, 2]. A critical issue is the heat load on plasma facing components ({approx}500 kW/m{sup 2}) over a long discharge time (up to 30 min), which leads to the necessity of active cooling. As result, the design of the 400 channel soft X-Ray Multi Camera Tomography System (XMCTS) [2, 3] has to cope with dark currents and amplifier drifts due to the heating of active components like photo diodes and in-vessel preamplifiers. In order to allow for a quantitative measurement of dynamic drifts and offsets, a shutter system and blind diodes are considered to compensate these effects. Another important issue is the large amount of data gathered by the XMCT system during long pulse discharges. A fast but less precise online reconstruction is planned, which will give information on the plasma shape and position on a human time scale. The two options under investigation are a Cormack-Inversion method and an approach based on neural networks [4]. Dependent on the available hardware, as much information as possible should be stored for more accurate offline-analysis. An intelligent way of marking interesting data is required. In case that the steady-state storage of all measured data is not feasible, at least this marked data will be stored in high time resolution.

  8. [Craniopharyngioma and Klinefelter syndrome during the pubertal transition: A diagnostic challenge].

    PubMed

    Mocarbel, Yamile; Arébalo de Cross, Graciela; Lebrethon, Marie C; Thiry, Albert; Beckersd, Albert; Valdes-Socin, Hernan

    2017-04-01

    Craniopharyngioma is the most common pituitary tumor in childhood. It can compromise the pubertal development because of its evolution or treatment. Syndrome of Klinefelter is the most common cause of hipergonadotrophic hypogonadism in males. The concomitant presentation of both entities is extremely low (1/109) and the pathophysiological association is questionned. We present the case of a 18-year-old Belgian patient. He had a diagnosis of craniopharyngioma in childhood and he presented with panhypopituitarism after radiotherapy and surgical treatment. At the age of 14, he started pubertal induction with gonadotropin therapy without clinical response. Asociación de craneofaringioma y síndrome de Klinefelter en la transición puberal: un desafío diagnóstico Craniopharyngioma and Klinefelter syndrome during the pubertal transition: A diagnostic challenge A genetic evaluation confirmed a homogeneous 47, XXY karyotype. Failure of exogenous gonadotropin therapy revealed the hidden association of primary and secondary hypogonadism, demonstrating the importance of the followup and a multidisciplinary approach in these patients.

  9. Liver fibrosis in non-alcoholic fatty liver disease - diagnostic challenge with prognostic significance.

    PubMed

    Stål, Per

    2015-10-21

    Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease in the Western world, with a prevalence of 20%. In a subgroup of patients, inflammation, ballooning degeneration of hepatocytes and a varying degree of fibrosis may develop, a condition named non-alcoholic steatohepatitis. Advanced liver fibrosis (stage F3) and cirrhosis (stage F4) are histologic features that most accurately predict increased mortality in both liver-related and cardiovascular diseases. Patients with advanced fibrosis or cirrhosis are at risk for complications such as hepatocellular carcinoma and esophageal varices and should therefore be included in surveillance programs. However, liver disease and fibrosis are often unrecognized in patients with NAFLD, possibly leading to a delayed diagnosis of complications. The early diagnosis of advanced fibrosis in NAFLD is therefore crucial, and it can be accomplished using serum biomarkers (e.g., the NAFLD Fibrosis Score, Fib-4 Index or BARD) or non-invasive imaging techniques (transient elastography or acoustic radiation force impulse imaging). The screening of risk groups, such as patients with obesity and/or type 2 diabetes mellitus, for NAFLD development with these non-invasive methods may detect advanced fibrosis at an early stage. Additionally, patients with a low risk for advanced fibrosis can be identified, and the need for liver biopsies can be minimized. This review focuses on the diagnostic challenge and prognostic impact of advanced liver fibrosis in NAFLD.

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

    PubMed

    Güldenring, Annette

    2015-01-01

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

  11. How to Move Beyond the Diagnostic and Statistical Manual of Mental Disorders/International Classification of Diseases.

    PubMed

    Schildkrout, Barbara

    2016-10-01

    A new nosology for mental disorders is needed as a basis for effective scientific inquiry. Diagnostic and Statistical Manual of Mental Disorders and International Classification of Diseases diagnoses are not natural, biological categories, and these diagnostic systems do not address mental phenomena that exist on a spectrum. Advances in neuroscience offer the hope of breakthroughs for diagnosing and treating major mental illness in the future. At present, a neuroscience-based understanding of brain/behavior relationships can reshape clinical thinking. Neuroscience literacy allows psychiatrists to formulate biologically informed psychological theories, to follow neuroscientific literature pertinent to psychiatry, and to embark on a path toward neurologically informed clinical thinking that can help move the field away from Diagnostic and Statistical Manual of Mental Disorders and International Classification of Diseases conceptualizations. Psychiatrists are urged to work toward attaining neuroscience literacy to prepare for and contribute to the development of a new nosology.

  12. Epigenetics as a basis for diagnosis of neurodevelopmental disorders: challenges and opportunities.

    PubMed

    Kubota, Takeo; Miyake, Kunio; Hariya, Natsuyo; Mochizuki, Kazuki

    2014-07-01

    Neurodevelopmental disorders, such as autism, are complex entities that can be caused by biological and social factors. In a subset of patients with congenital neurodevelopmental disorders, clear diagnosis can be achieved using DNA sequence-based analysis to identify changes in the DNA sequence (genetic variation). However, it has recently become clear that changes to the secondary modifications of DNA and histone structures (epigenetic variation) can also cause neurodevelopmental disorders via alteration of neural gene function. Moreover, it has recently been demonstrated that epigenetic modifications are more susceptible to alterations induced by environmental factors than are DNA sequences, and that some drugs commonly used reverse mental-stress induced alterations to histone modifications in neural genes. Therefore, application of diagnostic assays to detect epigenetic alterations will provide new insight into the characterization and treatment of neurodevelopmental disorders.

  13. Nipple discharge disorders: current diagnostic management and the role of fiber-ductoscopy.

    PubMed

    Okazaki, A; Hirata, K; Okazaki, M; Svane, G; Azavedo, E

    1999-01-01

    Nipple discharge disorders is a field in which there has been both increasing awareness on the part of patients and advances in management. Today secretion from nipples can be classified according to its color, cellularity and biology. To be significant a discharge should be true, spontaneous, persistent and non-lactational. Moreover there are methods to differentiate patients who require surgical intervention from those who do not. Surgically significant nipple discharges are watery, serous (yellow), serosanguineous and bloody. Cytology smears of discharge material have helped to classify the cellular material, providing information about normality, atypia and malignancy and also about papillary formation of the exfoliated cells. Tests such as Hemoccult help to discover occult blood in the secreted fluid. Modern immunological tests can be performed on cytology smears where occurrence of high levels of carcinoembryonic antigen could indicate a latent malignancy. Galactography investigation is today the state-of-the-art approach to investigate patients with nipple discharge disorders and this examination can demonstrate the size, location and extent of an intraductal abnormality. Modern high-resolution ultrasound techniques are helpful in visualizing intraductal disorders and are becoming a good complementary approach if not an alternative to traditional radiology techniques. Recently even MR galactography has been shown to be of diagnostic value, but not as informative as regular galactography. The most sophisticated investigation method, which can also be used therapeutically, is fiber-ductoscopy of the concerned duct in a breast. This technique, although expensive and in its infancy, is a fascinating and promising approach for inspecting the intraductal lumina. In this article the background, current investigation methods and possibilities of the technique are described, as well as the most sophisticated ways to deal with nipple discharge disorders in human

  14. Technological advances in diagnostic testing for von Willebrand disease: new approaches and challenges.

    PubMed

    Hayward, C P M; Moffat, K A; Graf, L

    2014-06-01

    Diagnostic tests for von Willebrand disease (VWD) are important for the assessment of VWD, which is a commonly encountered bleeding disorder worldwide. Technical innovations have been applied to improve the precision and lower limit of detection of von Willebrand factor (VWF) assays, including the ristocetin cofactor activity assay (VWF:RCo) that uses the antibiotic ristocetin to induce plasma VWF binding to glycoprotein (GP) IbIXV on target platelets. VWF-collagen-binding assays, depending on the type of collagen used, can improve the detection of forms of VWD with high molecular weight VWF multimer loss, although the best method is debatable. A number of innovations have been applied to VWF:RCo (which is commonly performed on an aggregometer), including replacing the target platelets with immobilized GPIbα, and quantification by an enzyme-linked immunosorbent assay (ELISA), immunoturbidimetric, or chemiluminescent end-point. Some common polymorphisms in the VWF gene that do not cause bleeding are associated with falsely low VWF activity by ristocetin-dependent methods. To overcome the need for ristocetin, some new VWF activity assays use gain-of-function GPIbα mutants that bind VWF without the need for ristocetin, with an improved precision and lower limit of detection than measuring VWF:RCo by aggregometry. ELISA of VWF binding to mutated GPIbα shows promise as a method to identify gain-of-function defects from type 2B VWD. The performance characteristics of many new VWF activity assays suggest that the detection of VWD, and monitoring of VWD therapy, by clinical laboratories could be improved through adopting newer generation VWF assays.

  15. Comparing diagnostic classification of neurobehavioral disorder associated with prenatal alcohol exposure with the Canadian fetal alcohol spectrum disorder guidelines: a cohort study

    PubMed Central

    Sanders, James L.; Breen, Rebecca E. Hudson; Netelenbos, Nicole

    2017-01-01

    Background: Diagnostic criteria have recently been introduced in the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5), for neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE). The purpose of this study is to assess the classification of this condition using the Canadian fetal alcohol spectrum disorder (FASD) multidisciplinary diagnostic guidelines as the standard of comparison. First, classification of ND-PAE was compared with Canadian FASD diagnoses of fetal alcohol syndrome (FAS), partial FAS and alcohol-related neurodevelopmental disorder. Second, classification of ND-PAE was compared with FAS and pFAS only, a criterion for which includes facial features highly predictive of prenatal alcohol exposure and effects. Methods: Eighty-two patients underwent multidisciplinary clinical evaluations using the Canadian FASD diagnostic guidelines between 2011 and 2015. Two clinicians independently reviewed patient files for evidence of diagnostic criteria for ND-PAE when applying an impairment cut-off level of 2 or more standard deviations below the mean, or clinically significant impairment in the absence of standardized norm-referenced measures. Results: Good interrater reliability was established between clinicians (κ = 0.79). Classifications of ND-PAE and Canadian FASD diagnoses, including alcohol-related neurodevelopmental disorder, were moderately correlated (Cramer V [82] = 0.44, p < 0.01). However, ND-PAE possessed low sensitivity in FASD identification. Further, there was no correlation between ND-PAE and FAS/pFAS classifications (Cramer V [82] = 0.05, p > 0.05). Interpretation: Although there is considerable overlap between both sets of criteria, ND-PAE was less likely to identify patients with FASD. Although the neurobehavioral domains assessed by ND-PAE are supported in research, its diagnostic structure restricts the identification of FASD at the impairment threshold of 2 or more standard deviations. A

  16. The relationship between the five-factor model and latent Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition personality disorder dimensions.

    PubMed

    Nestadt, Gerald; Costa, Paul T; Hsu, Fang-Chi; Samuels, Jack; Bienvenu, O Joseph; Eaton, William W

    2008-01-01

    This study compared the latent structure of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition personality disorders (PDs) with the 5-factor model (FFM) of general personality dimensions. The subjects in the study were 742 community-residing individuals who participated in the Hopkins Epidemiology of Personality Disorders Study. Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition PD traits were assessed by psychologists using the International Personality Disorder Examination, and PD dimensions were derived previously using dichotomous factor analysis. The Revised NEO Personality Inventory, a measure of the FFM, was administered to all subjects. The relationship between the 2 sets of personality-related constructs was examined using a construct validity framework and also using Pearson correlation coefficients, multiple linear regression models, and spline regression models. The 5 PD factors each exhibited small to moderate correlations with several NEO dimensions; together, the NEO domain and facet scores explained a fifth to a third of the variance in PD dimensions. Examples of nonlinear relationships between the personality dimensions were identified. There is a modest correspondence between the PD dimensions and FFM traits, and the traits of FFM only partially explain the variance of the PDs. Dimensional measures of general personality may be a suitable alternative to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. Whether additional maladaptive traits would better define the domain of PDs remains an important objective for future research.

  17. Treatment challenges associated with comorbid substance use and posttraumatic stress disorder: clinicians' perspectives.

    PubMed

    Back, Sudie E; Waldrop, Angela E; Brady, Kathleen T

    2009-01-01

    A significant proportion of individuals with substance use disorders (SUDs) meet criteria for comorbid posttraumatic stress disorder (PTSD). This comorbidity confers a more complicated clinical presentation that carries with it formidable treatment challenges for practitioners. The current study examined sources of difficulty and gratification among clinicians (N = 423) from four national organizations who completed an anonymous questionnaire. As expected, the findings revealed that comorbid SUD/PTSD was rated as significantly more difficult to treat than either disorder alone. The most common challenges associated with treating SUD/PTSD patients included knowing how to best prioritize and integrate treatment components, patient self-destructiveness and severe symptomatology, and helping patients abstain from substance use. The findings increase understanding of SUD/PTSD treatment challenges, and may be useful for enhancing therapist training programs, supervision effectiveness, and designing optimal SUD/PTSD interventions.

  18. Diagnostic Stability of Internet Addiction in Obsessive-compulsive Disorder: Data from a Naturalistic One-year Treatment Study

    PubMed Central

    Yerramilli, Srinivasa SRR; Karredla, Ashok Reddy; Gopinath, Srinath

    2015-01-01

    Whether internet addiction should be categorized as a primary psychiatric disorder or the result of an underlying psychiatric disorder still remains unclear. In addition, the relationship between internet addiction and obsessive-compulsive disorder remains to be explored. We hypothesized that internet addiction is a manifestation of underlying psychopathology, the treatment of which will improve internet addiction. We enrolled 34 control subjects (with or without internet addiction) and compared them to 38 patients with “pure” obsessive-compulsive disorder (with or without internet addiction). Internet addiction and obsessive-compulsive disorder were diagnosed based on Young’s Diagnostic Questionnaire and Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), respectively. Age and Internet Addiction Test scores were comparable in both the control (years: 26.87±6.57; scores: 43.65±11.56) and obsessive-compulsive disorder groups (years: 27.00±6.13 years, p=0.69; scores: 43.47±15.21, p=0.76). Eleven patients with obsessive-compulsive disorder (28.95%) were diagnosed with internet addiction as compared to three control subjects (p=0.039). In the obsessive-compulsive disorder group, no difference in the Yale-Brown Obsessive Compulsive Scale (24.07±3.73 non-internet addiction, 23.64±4.65 internet addiction; p=0.76) score was seen between the internet addiction/obsessive-compulsive disorder and non-internet addiction/obsessive-compulsive disorder groups. As expected, the Internet Addiction Test scores were higher in the internet addiction/obsessive-compulsive disorder group (64.09±9.63) than in the non-internet addiction/obsessive-compulsive disorder group (35.07±6.37; p=0.00). All enrolled patients with obsessive-compulsive disorder were subsequently treated for a period of one year. Treatment of obsessive-compulsive disorder improved Yale-Brown Obsessive Compulsive Scale and Internet Addiction Test scores over time. At 12 months

  19. Diagnostic Stability of Internet Addiction in Obsessive-compulsive Disorder: Data from a Naturalistic One-year Treatment Study.

    PubMed

    Bipeta, Rajshekhar; Yerramilli, Srinivasa Srr; Karredla, Ashok Reddy; Gopinath, Srinath

    2015-01-01

    Whether internet addiction should be categorized as a primary psychiatric disorder or the result of an underlying psychiatric disorder still remains unclear. In addition, the relationship between internet addiction and obsessive-compulsive disorder remains to be explored. We hypothesized that internet addiction is a manifestation of underlying psychopathology, the treatment of which will improve internet addiction. We enrolled 34 control subjects (with or without internet addiction) and compared them to 38 patients with "pure" obsessive-compulsive disorder (with or without internet addiction). Internet addiction and obsessive-compulsive disorder were diagnosed based on Young's Diagnostic Questionnaire and Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), respectively. Age and Internet Addiction Test scores were comparable in both the control (years: 26.87±6.57; scores: 43.65±11.56) and obsessive-compulsive disorder groups (years: 27.00±6.13 years, p=0.69; scores: 43.47±15.21, p=0.76). Eleven patients with obsessive-compulsive disorder (28.95%) were diagnosed with internet addiction as compared to three control subjects (p=0.039). In the obsessive-compulsive disorder group, no difference in the Yale-Brown Obsessive Compulsive Scale (24.07±3.73 non-internet addiction, 23.64±4.65 internet addiction; p=0.76) score was seen between the internet addiction/obsessive-compulsive disorder and non-internet addiction/obsessive-compulsive disorder groups. As expected, the Internet Addiction Test scores were higher in the internet addiction/obsessive-compulsive disorder group (64.09±9.63) than in the non-internet addiction/obsessive-compulsive disorder group (35.07±6.37; p=0.00). All enrolled patients with obsessive-compulsive disorder were subsequently treated for a period of one year. Treatment of obsessive-compulsive disorder improved Yale-Brown Obsessive Compulsive Scale and Internet Addiction Test scores over time. At 12 months, only

  20. A2 diagnostic criterion for combat-related posttraumatic stress disorder.

    PubMed

    Adler, Amy B; Wright, Kathleen M; Bliese, Paul D; Eckford, Rachel; Hoge, Charles W

    2008-06-01

    Individuals trained to respond to a potentially traumatic event may not experience the posttraumatic stress disorder (PTSD) A2 diagnostic criterion of fear, helplessness, or horror and yet may still report significant PTSD symptoms. The present study included interviews with 202 soldiers returning from a year in Iraq. Although reporting an A2 response was associated with higher PTSD Checklist scores, there were no significant differences in the percentage of subjects who met cutoff criteria for PTSD. The most common alternative A2 responses were related to military training and anger. The A2 criterion for PTSD should be expanded so as not to underestimate the number of individuals trained for high-risk occupations who might benefit from treatment.

  1. The history of nosology and the rise of the Diagnostic and Statistical Manual of Mental Disorders.

    PubMed

    Shorter, Edward

    2015-03-01

    The current Diagnostic and Statistical Manual of Mental Disorders (DSM)-5 arose from a tradition filled with haphazard science and politically driven choices. The nosology of modern psychiatry began with the German classifiers of the late 19th century, especially Emil Kraepelin. Psychoanalysis then blotted out the classificatory vision for the next half-century, and most of this European psychopathological science failed to cross the Atlantic. The DSM series was a homegrown American product, beginning with Medical 203 in 1945, then guided by psychoanalytic insights through DSM-I in 1952 and DSM-II in 1968. In 1980, DSM-III represented a massive "turning of the page" in nosology, and it had the effect of steering psychoanalysis toward the exit in psychiatry and the beginning of a reconciliation of psychiatry with the rest of medicine. With the advent of DSM-5, however, questions are starting to be asked about whether this massive venture is on the right track.

  2. Comparing Diagnostic Outcomes of Autism Spectrum Disorder Using DSM-IV-TR and DSM-5 Criteria.

    PubMed

    Harstad, Elizabeth B; Fogler, Jason; Sideridis, Georgios; Weas, Sarah; Mauras, Carrie; Barbaresi, William J

    2015-05-01

    Controversy exists regarding the DSM-5 criteria for ASD. This study tested the psychometric properties of the DSM-5 model and determined how well it performed across different gender, IQ, and DSM-IV-TR sub-type, using clinically collected data on 227 subjects (median age = 3.95 years, majority had IQ > 70). DSM-5 was psychometrically superior to the DSM-IV-TR model (Comparative Fit Index of 0.970 vs 0.879, respectively). Measurement invariance revealed good model fit across gender and IQ. Younger children tended to meet fewer diagnostic criteria. Those with autistic disorder were more likely to meet social communication and repetitive behaviors criteria (p < .001) than those with PDD-NOS. DSM-5 is a robust model but will identify a different, albeit overlapping population of individuals compared to DSM-IV-TR.

  3. Challenges in Internet Addiction Disorder: Is a Diagnosis Feasible or Not?

    PubMed

    Musetti, Alessandro; Cattivelli, Roberto; Giacobbi, Marco; Zuglian, Pablo; Ceccarini, Martina; Capelli, Francesca; Pietrabissa, Giada; Castelnuovo, Gianluca

    2016-01-01

    An important international discussion began because of some pioneer studies carried out by Young (a) on the internet addiction disorder (IAD). In the fifth and most recent version of the Diagnostic, and Statistical Manual of Mental Disorders (DSM) there is no mention of this disorder and among researchers there are basically two opposite positions. Those who are in favor of a specific diagnosis and those who are claiming the importance of specific criteria characterizing this behavior and the precise role it has in the patient's life. The aim of the present paper is to answer the question whether it is possible or not to formulate diagnoses of internet-related disorders. We revised literature on the history of diagnostic criteria, on neurocognitive evidence, on the topic debate and on IAD instrumental measures. We found that the disorder was not univocally defined and that the construct was somehow too broad and generic to be explicative for a diagnosis. Indeed, the models are borrowed from other addiction pathologies and they are often formulated before the development of internet as intended in current society. In conclusion, we think we need a more innovative, integrated and comprehensive model for an IAD diagnosis.

  4. Challenges in Internet Addiction Disorder: Is a Diagnosis Feasible or Not?

    PubMed Central

    Musetti, Alessandro; Cattivelli, Roberto; Giacobbi, Marco; Zuglian, Pablo; Ceccarini, Martina; Capelli, Francesca; Pietrabissa, Giada; Castelnuovo, Gianluca

    2016-01-01

    An important international discussion began because of some pioneer studies carried out by Young (a) on the internet addiction disorder (IAD). In the fifth and most recent version of the Diagnostic, and Statistical Manual of Mental Disorders (DSM) there is no mention of this disorder and among researchers there are basically two opposite positions. Those who are in favor of a specific diagnosis and those who are claiming the importance of specific criteria characterizing this behavior and the precise role it has in the patient’s life. The aim of the present paper is to answer the question whether it is possible or not to formulate diagnoses of internet-related disorders. We revised literature on the history of diagnostic criteria, on neurocognitive evidence, on the topic debate and on IAD instrumental measures. We found that the disorder was not univocally defined and that the construct was somehow too broad and generic to be explicative for a diagnosis. Indeed, the models are borrowed from other addiction pathologies and they are often formulated before the development of internet as intended in current society. In conclusion, we think we need a more innovative, integrated and comprehensive model for an IAD diagnosis. PMID:27375523

  5. Diagnostic accuracy of Posttraumatic Stress Disorder Checklist in blast-exposed military personnel.

    PubMed

    Walker, William C; McDonald, Scott D; Franke, Laura Manning

    2014-01-01

    Researchers often extrapolate posttraumatic stress disorder (PTSD) status from PTSD Checklist (PCL) data. When doing so, cut points should be based on samples with similar characteristics. This study assessed PCL diagnostic accuracy and postconcussive symptom levels within 106 Iraq/Afghanistan war Veterans and servicemembers with recent blast exposure. Two definitions of PTSD were applied: (1) "strict" Diagnostic and Statistical Manual of Mental Health Disorders (DSM), 4th edition (DSM-IV) criteria and (2) "relaxed" DSM-IV criteria dropping the A2 criterion as per the DSM, 5th edition (DSM-V). Using a structured interview for PTSD, we found moderate agreement with the PCL. Under strict criteria, PTSD prevalence was 16%, PCL cut point was 66 at peak kappa, and mean Rivermead Postconcussion Questionnaire (RPQ) score trended higher for those with PTSD than for those without PTSD (35.5 +/- 11.2 vs 30.5 +/- 10.7, respectively; p = 0.080). Under relaxed criteria, PTSD prevalence was 26.4%, PCL cut point was 58 at peak kappa, and those with PTSD had higher RPQ scores than those without PTSD (36.4 +/- 11.2 vs 29.5 +/- 10.2, respectively; p = 0.003). Participants diagnosed with blast-related mild traumatic brain injury (n = 90) did not differ from those without mild traumatic brain injury (n = 16) in symptom scores. In conclusion, persons with combat-related blast exposure need higher than conventional PCL cut points and those with PTSD have more severe postconcussive-type symptoms than those without PTSD.

  6. Assessment of the Validity of the Research Diagnostic Criteria for Temporomandibular Disorders: Overview and Methodology

    PubMed Central

    Schiffman, Eric L.; Truelove, Edmond L.; Ohrbach, Richard; Anderson, Gary C.; John, Mike T.; List, Thomas; Look, John O.

    2011-01-01

    AIMS The purpose of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) Validation Project was to assess the diagnostic validity of this examination protocol. An overview is presented, including Axis I and II methodology and descriptive statistics for the study participant sample. This paper details the development of reliable methods to establish the reference standards for assessing criterion validity of the Axis I RDC/TMD diagnoses. Validity testing for the Axis II biobehavioral instruments was based on previously validated reference standards. METHODS The Axis I reference standards were based on the consensus of 2 criterion examiners independently performing a comprehensive history, clinical examination, and evaluation of imaging. Intersite reliability was assessed annually for criterion examiners and radiologists. Criterion exam reliability was also assessed within study sites. RESULTS Study participant demographics were comparable to those of participants in previous studies using the RDC/TMD. Diagnostic agreement of the criterion examiners with each other and with the consensus-based reference standards was excellent with all kappas ≥ 0.81, except for osteoarthrosis (moderate agreement, k = 0.53). Intrasite criterion exam agreement with reference standards was excellent (k ≥ 0.95). Intersite reliability of the radiologists for detecting computed tomography-disclosed osteoarthrosis and magnetic resonance imaging-disclosed disc displacement was good to excellent (k = 0.71 and 0.84, respectively). CONCLUSION The Validation Project study population was appropriate for assessing the reliability and validity of the RDC/TMD Axis I and II. The reference standards used to assess the validity of Axis I TMD were based on reliable and clinically credible methods. PMID:20213028

  7. Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology.

    PubMed

    McCarroll, Steven A; Hyman, Steven E

    2013-10-30

    Advances in genome analysis, accompanied by the assembly of large patient cohorts, are making possible successful genetic analyses of polygenic brain disorders. If the resulting molecular clues, previously hidden in the genomes of affected individuals, are to yield useful information about pathogenesis and inform the discovery of new treatments, neurobiology will have to rise to many difficult challenges. Here we review the underlying logic of the genetic investigations, describe in more detail progress in schizophrenia and autism, and outline the challenges for neurobiology that lie ahead. We argue that technologies at the disposal of neuroscience are adequately advanced to begin to study the biology of common and devastating polygenic disorders.

  8. Diagnostic challenges and the unwritten stories of dog and cat parasites.

    PubMed

    Otranto, Domenico

    2015-08-15

    Is it still possible to discover new parasites of dogs and cats? Do we really know enough about them? To what extent do limitations in the diagnosis of dog and cat parasites represent an obstacle for a deeper understanding of their biology? Diagnosis in parasitology has a profound impact on animal health and welfare and, in some cases, public health. Although, over the last few years, advances in the diagnosis of parasitic diseases have largely paralleled knowledge of their biology, gaps in the diagnosis of cat and dog parasites still exist. For instance, difficulties in obtaining samples for research purposes (due to ethical issues or to the invasive nature of the sampling procedures), inappropriate sample storage and poor sensitivity of the commonly used techniques, may represent major obstacles in diagnosing parasitic diseases. Other hurdles are often associated with the biology of parasites (e.g., the intermittent presence in blood of tick-borne pathogens) or, simply, through the fact that some parasites of pets are largely ignored by the scientific community. This article provides key examples of parasites of dogs and cats, which are currently considered of minor importance, also because of the limitations in their diagnosis. Among them, new or, in some cases, previously "misdiagnosed parasites" with overlapping morphological features, biology or ecology, represent a major challenge when trying to correctly diagnose "unknown parasites" (for which only occasional reports are available). Further research is needed in order to provide the scientific community with more reliable, cost-effective diagnostic tools, which ultimately, will assist our understanding of some mis- or less-diagnosed parasitoses.

  9. Acute bithalamic infarct manifesting as sleep-like coma: A diagnostic challenge.

    PubMed

    Honig, Asaf; Eliahou, Ruth; Eichel, Roni; Shemesh, Ari Aharon; Ben-Hur, Tamir; Auriel, Eitan

    2016-12-01

    Bilateral thalamic infarction (BTI) typically presents as a sleep-like coma (SLC) without localizing signs, posing a diagnostic challenge that may lead the treating physician to search for toxic or metabolic causes and delay treatment. We review our experience with BTI of different etiologies, and emphasize the critical role of timely imaging, diagnosis, and management in a series of 12 patients with a presentation of SLC and acute BTI who were managed in our Medical Centers from 2006-2015. In 11/12, urgent head CT scans showed normal brain tissue, while diffusion-weighted (DWI) MRI revealed symmetric bilateral thalamic hyperintense lesions with variable degrees of brainstem involvement. In 1/12, CT scans revealed a contralateral subacute stroke from a thalamic infarct 1month earlier with a unilateral hyperintense lesion on DWI-MRI. From clinical and imaging findings (DWI-MRI, CT angiography and venography), etiology was attributed to embolic causes (cardio-embolism, artery-to-artery mechanism), small vessel disease, or deep sinus vein thrombosis secondary to dural arteriovenous (AV) fistula. Three patients had good outcomes after prompt diagnosis and optimal treatment in <3hours (intravenous tissue plasminogen activator in two patients cardio-embolic etiology and neuro-endovascular repair in one patient with venous infarction due to a dural AV fistula). The diagnosis was made beyond the therapeutic window in seven patients, who were left with significant neurological sequelae. Higher awareness of BTI presenting as SLC is warranted. Optimal patient management includes urgent DWI-MRI. In cases of BTI, further imaging workup is indicated to provide a comprehensive assessment for etiology. Early diagnosis and prompt, targeted intervention are crucial.

  10. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.

    PubMed

    Xue, Yuan; Ankala, Arunkanth; Wilcox, William R; Hegde, Madhuri R

    2015-06-01

    Next-generation sequencing is changing the paradigm of clinical genetic testing. Today there are numerous molecular tests available, including single-gene tests, gene panels, and exome sequencing or genome sequencing. As a result, ordering physicians face the conundrum of selecting the best diagnostic tool for their patients with genetic conditions. Single-gene testing is often most appropriate for conditions with distinctive clinical features and minimal locus heterogeneity. Next-generation sequencing-based gene panel testing, which can be complemented with array comparative genomic hybridization and other ancillary methods, provides a comprehensive and feasible approach for heterogeneous disorders. Exome sequencing and genome sequencing have the advantage of being unbiased regarding what set of genes is analyzed, enabling parallel interrogation of most of the genes in the human genome. However, current limitations of next-generation sequencing technology and our variant interpretation capabilities caution us against offering exome sequencing or genome sequencing as either stand-alone or first-choice diagnostic approaches. A growing interest in personalized medicine calls for the application of genome sequencing in clinical diagnostics, but major challenges must be addressed before its full potential can be realized. Here, we propose a testing algorithm to help clinicians opt for the most appropriate molecular diagnostic tool for each scenario.

  11. Diagnostic use of dermatomal somatosensory-evoked potentials in spinal disorders: Case series

    PubMed Central

    Dikmen, Pinar Yalinay; Oge, A. Emre

    2013-01-01

    Objective/Context Dermatomal somatosensory-evoked potentials (dSEPs) may be valuable for diagnostic purposes in selected cases with spinal disorders. Design Reports on cases with successful use of dSEPs. Findings Cases 1 and 2 had lesions causing multiple root involvement (upper to middle lumbar region in Case 1 and lower sacral region in Case 2). Cystic lesions in both cases seemed to compress more than one nerve root, and stimulation at the center of the involved dermatomes in dSEPs helped to reveal the functional abnormality. Cases 3 and 4 had lesions involving the spinal cord with or without nerve root impairment. In Case 3, an magnetic resonance imaging (MRI)-verified lesion seemed to occupy a considerable volume of the lower spinal cord, causing only very restricted clinical sensory and motor signs. In Case 4, a cervical MRI showed a small well-circumscribed intramedullary lesion at right C2 level. All neurophysiological investigations were normal in the latter two patients (motor, tibial, and median somatosensory-evoked potentials in Case 3, and electromyography in both) except for the dSEPs. Conclusions Objectifying the presence and degree of sensory involvement in spinal disorders may be helpful for establishing diagnoses and in therapeutic decision-making. Valuable information could be provided by dSEPs in selected patients with multiple root or spinal cord involvement. PMID:24089995

  12. Diagnostic strategies in disorders of fluid, electrolyte and acid-base homeostasis.

    PubMed

    Narins, R G; Jones, E R; Stom, M C; Rudnick, M R; Bastl, C P

    1982-03-01

    Our understanding of the physiology and biochemistry of acid-base and fluid-electrolyte regulations has greatly expanded in recent years. Key physiologic principles have emerged that now permit rational diagnosis and therapy of clinical disorders of serum electrolyte concentration. This paper describes diagnostic strategies based upon these principles. The etiology of the myriad factors in hyponatremia is best derived by first measuring serum tonicity and then assessing extracellular fluid volume. The hyper-, iso- and hypotonic hyponatremia are defined, and the hypotonic group is subclassified into hypo-, iso- and hyper volemic forms. The hypernatremias are best categorized by their state of volume expansion. Classification into the hypo-, hyper- and isovolemic hypernatremias simplifies their diagnosis. Metabolic acidoses are classified in terms of the anion gap. Clinical and chemical aspects of increased and normal anion gap acidoses are described. Metabolic alkaloses require a source of new bicarbonate and its retention by the kidney. The means by which new alkali is synthesized and urinary loss prevented serve to effectively classify the alkaloses. Hypokalemic syndromes are defined in terms of associated changes in body potassium. The potassium-depleted states are further subclassified by whether normotension or hypertension is associated. Hyperkalemia is produced by redistribution of cellular and extracellular potassium or by increased body potassium. Defects in the renin-angiotensin-aldosterone-distal renal tubule effector arm usually underlie hyperkalemic states, which are than classified in terms of this regulatory hormonal cascade. Classifications for disordered serum concentrations of calcium, magnesium, phosphorus and uric acid are presented. Hormonal, metabolic and renal regulatory factors form the basis for an organized approach to these disorders.

  13. Utility of the 3Di Short Version for the Diagnostic Assessment of Autism Spectrum Disorder and Compatibility with DSM-5

    ERIC Educational Resources Information Center

    Slappendel, Geerte; Mandy, William; van der Ende, Jan; Verhulst, Frank C.; van der Sijde, Ad; Duvekot, Jorieke; Skuse, David; Greaves-Lord, Kirstin

    2016-01-01

    The Developmental Diagnostic Dimensional Interview-short version (3Di-sv) provides a brief standardized parental interview for diagnosing autism spectrum disorder (ASD). This study explored its validity, and compatibility with DSM-5 ASD. 3Di-sv classifications showed good sensitivity but low specificity when compared to ADOS-2-confirmed clinical…

  14. Diagnostic Accuracy of the Child Behavior Checklist Scales for Attention-Deficit Hyperactivity Disorder: A Receiver-Operating Characteristic Analysis.

    ERIC Educational Resources Information Center

    Chen, Wei J.; And Others

    1994-01-01

    Examined diagnostic accuracy of Child Behavior Checklist (CBCL) scales for attention-deficit hyperactivity disorder (ADHD). Estimated 3 logistic regression models in 121 children with and without ADHD, then tested models in cross-validation sample (n=122) and among 219 siblings of samples. In all four groups, CBCL Attention Problems scale had…

  15. Overview and Analysis of the Behaviourist Criticism of the "Diagnostic and Statistical Manual of Mental Disorders (DSM)"

    ERIC Educational Resources Information Center

    Andersson, Gerhard; Ghaderi, Ata

    2006-01-01

    While a majority of cognitive behavioural researchers and clinicians adhere to the classification system provided in the "Diagnostic and Statistical Manual of Mental Disorders (DSM-IV)," strong objections have been voiced among behaviourists who find the dichotomous allocation of patients into psychiatric diagnoses incompatible with the philosophy…

  16. The "Diagnostic and Statistical Manual of Mental Disorders" as a Major Form of Dehumanization in the Modern World

    ERIC Educational Resources Information Center

    Gambrill, Eileen

    2014-01-01

    The "Diagnostic and Statistical Manual of Mental Disorders" (DSM) is one of the most successful technologies in modern times. In spite of well-argued critiques, the DSM and the idea of "mental illness" on which it is based flourish, with ever more (mis)behaviors labeled as brain diseases. Problems in living and related distress…

  17. Variability among Research Diagnostic Interview Instruments in the Application of "DSM-IV-TR" Criteria for Pediatric Bipolar Disorder

    ERIC Educational Resources Information Center

    Galanter, Cathryn A.; Hundt, Stephanie R.; Goyal, Parag; Le, Jenna; Fisher, Prudence W.

    2012-01-01

    Objective: The "DSM-IV-TR "criteria for a manic episode and bipolar disorder (BD) were developed for adults but are used for children. The manner in which clinicians and researchers interpret these criteria may have contributed to the increase in BD diagnoses given to youth. Research interviews are designed to improve diagnostic reliability and…

  18. Convergent Validity of the Autism Spectrum Disorder-Diagnostic for Children (ASD-DC) and Childhood Autism Rating Scales (CARS)

    ERIC Educational Resources Information Center

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

    2010-01-01

    Previous studies analyzed the reliability as well as sensitivity and specificity of the Autism Spectrum Disorder-Diagnostic for Children (ASD-DC). This study further examines the psychometric properties of the ASD-DC by assessing whether the ASD-DC has convergent validity against a psychometrically sound observational instrument for Autistic…

  19. Assessment Procedures for Narcissistic Personality Disorder: A Comparison of the Personality Diagnostic Questionnaire-4 and Best-Estimate Clinical Judgments

    ERIC Educational Resources Information Center

    Miller, Joshua D.; Campbell, W. Keith; Pilkonis, Paul A.; Morse, Jennifer Q.

    2008-01-01

    This study examined the degree of correspondence between two assessments for narcissistic personality disorder (NPD) in a mixed clinical and community sample--one using a self-report measure (Personality Diagnostic Questionnaire-4) and the other using clinical judgments derived from an assessment based on the longitudinal, expert, all data (LEAD)…

  20. Impact of Adherence to Best Practice Guidelines on the Diagnostic and Assessment Services for Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Hathorn, Claire; Alateeqi, Nahed; Graham, Catriona; O'Hare, Anne

    2014-01-01

    Despite their range and complexity, adherence to Scottish Intercollegiate Guidelines Network guideline for the diagnosis and assessment of autism spectrum disorders (ASD) was shown to be high within child development and specialist diagnostic clinics serving a geographical cohort of children diagnosed under the age of 7 years. A retrospective…

  1. Rapid-Response Parenting Intervention in Diagnostic Centers as a Patient-Centered Innovation for Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    McMillin, Stephen Edward; Bultas, Margaret W.; Wilmott, Jennifer; Grafeman, Sarah; Zand, Debra H.

    2015-01-01

    Parents of children newly diagnosed with autism spectrum disorders are a high-need population for whom skills-based parenting interventions likely help. Diagnostic centers are compelling locations to deliver parenting interventions because families are served in an accessible location and at a time they receive overwhelming treatment…

  2. The Autism Diagnostic Observation Schedule – Toddler Module: A new module of a standardized diagnostic measure for autism spectrum disorders

    PubMed Central

    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

    2010-01-01

    The Autism Diagnostic Observation Schedule (ADOS; Lord et al., 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. PMID:19415479

  3. Assessment procedures for narcissistic personality disorder: a comparison of the personality diagnostic questionnaire-4 and best-estimate clinical judgments.

    PubMed

    Miller, Joshua D; Campbell, W Keith; Pilkonis, Paul A; Morse, Jennifer Q

    2008-12-01

    This study examined the degree of correspondence between two assessments for narcissistic personality disorder (NPD) in a mixed clinical and community sample--one using a self-report measure (Personality Diagnostic Questionnaire-4) and the other using clinical judgments derived from an assessment based on the longitudinal, expert, all data (LEAD) methodology. NPD scores demonstrated moderate convergence for the total scores but weak convergence for the individual criteria. The authors also examined the correlates created by each set of NPD scores using Cloninger's Temperament and Character Inventory (TCI). The NPD scores demonstrated areas of convergence (e.g., Cooperativeness, Self-directedness) and divergence (i.e., Harm Avoidance, Novelty Seeking) with these personality scores. These divergences may be due to the wording of certain items on the Personality Diagnostic Questionnaire-4 NPD scale, which may require rewriting if it is to provide an assessment that is more highly convergent with the Diagnostic and Statistical Manual of Mental Disorders NPD construct.

  4. Attention deficit hyperactivity disorder and disordered eating behaviors: links, risks, and challenges faced

    PubMed Central

    Ptacek, Radek; Stefano, George B; Weissenberger, Simon; Akotia, Devang; Raboch, Jiri; Papezova, Hana; Domkarova, Lucie; Stepankova, Tereza; Goetz, Michal

    2016-01-01

    Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder that often persists in adulthood. It is defined by inattention and/or hyperactivity–impulsivity. ADHD is associated with many comorbidities, including eating disorders (EDs). In the last decade, studies have reported that ADHD is linked with binge EDs, bulimia nervosa, and anorexia nervosa. Many postulates have been proposed to explain the association: 1) impulsive behavior in ADHD patients leads to disordered eating behavior; 2) other psychologic comorbidities present in ADHD patients account for eating behavior; 3) poor eating habits and resulting nutritional deficiencies contribute to ADHD symptoms; and 4) other risk factors common to both ADHD and EDs contribute to the coincidence of both diseases. Additionally, sex differences become a significant issue in the discussion of EDs and ADHD because of the higher incidence of bulimia nervosa and anorexia nervosa in females and the ability of females to mask the symptoms of ADHD. Interestingly, both EDs and ADHD rely on a common neural substrate, namely, dopaminergic signaling. Dopaminergic signaling is critical for motor activity and emotion, the latter enabling the former into a combined motivated movement like eating. This linkage aids in explaining the many comorbidities associated with ADHD. The interconnection of ADHD and EDs is discussed from both a historical perspective and the one based on the revealing nature of its comorbidities. PMID:27042070

  5. Attention deficit hyperactivity disorder and disordered eating behaviors: links, risks, and challenges faced.

    PubMed

    Ptacek, Radek; Stefano, George B; Weissenberger, Simon; Akotia, Devang; Raboch, Jiri; Papezova, Hana; Domkarova, Lucie; Stepankova, Tereza; Goetz, Michal

    2016-01-01

    Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder that often persists in adulthood. It is defined by inattention and/or hyperactivity-impulsivity. ADHD is associated with many comorbidities, including eating disorders (EDs). In the last decade, studies have reported that ADHD is linked with binge EDs, bulimia nervosa, and anorexia nervosa. Many postulates have been proposed to explain the association: 1) impulsive behavior in ADHD patients leads to disordered eating behavior; 2) other psychologic comorbidities present in ADHD patients account for eating behavior; 3) poor eating habits and resulting nutritional deficiencies contribute to ADHD symptoms; and 4) other risk factors common to both ADHD and EDs contribute to the coincidence of both diseases. Additionally, sex differences become a significant issue in the discussion of EDs and ADHD because of the higher incidence of bulimia nervosa and anorexia nervosa in females and the ability of females to mask the symptoms of ADHD. Interestingly, both EDs and ADHD rely on a common neural substrate, namely, dopaminergic signaling. Dopaminergic signaling is critical for motor activity and emotion, the latter enabling the former into a combined motivated movement like eating. This linkage aids in explaining the many comorbidities associated with ADHD. The interconnection of ADHD and EDs is discussed from both a historical perspective and the one based on the revealing nature of its comorbidities.

  6. Higher Education Experiences of Students with Autism Spectrum Disorder: Challenges, Benefits and Support Needs

    ERIC Educational Resources Information Center

    Van Hees, Valérie; Moyson, Tinneke; Roeyers, Herbert

    2015-01-01

    The transition into higher education constitutes a precarious life stage for students with autism spectrum disorder (ASD). Research on how students with ASD navigate college life is needed for the development of adequate support. This study investigated the challenges and support needs of 23 students with ASD in higher education through…

  7. Sleep, Anxiety and Challenging Behaviour in Children with Intellectual Disability and/or Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Rzepecka, Halina; McKenzie, Karen; McClure, Iain; Murphy, Shona

    2011-01-01

    Children with an intellectual disability (ID) and/or autism spectrum disorder (ASD) are known to suffer from significantly more sleep problems, anxiety and challenging behaviour (CB) than typically developing children (TD), yet little is known about the relationship between these factors in the child ID/ASD population. The study aim was to examine…

  8. Interventions for Challenging Behaviours of Students with Autism Spectrum Disorders and Developmental Disabilities: A Synthesis Paper

    ERIC Educational Resources Information Center

    Montgomery, Janine; Martin, Toby; Shooshtari, Shahin; Stoesz, Brenda M.; Heinrichs, Dustin J.; North, Sebastian; Dodson, Lindsay; Senkow, Quinn; Douglas, Joyce

    2014-01-01

    This synthesis paper summarizes research literature addressing challenging behaviours in children and youth with autism spectrum disorders and developmental disabilities in school settings. We conducted a comprehensive literature review to identify relevant peer-reviewed articles published between the years 2000 and 2011. The methodological…

  9. Characteristics of Challenging Behaviours in Adults with Autistic Disorder, PDD-NOS, and Intellectual Disability

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Rivet, Tessa T.

    2008-01-01

    Background: Challenging behaviours are frequently a problem for people with autism spectrum disorders (ASD) and intellectual disability (ID). A better understanding of which individuals display which behaviours, at what rates, and the relationship of these behaviours to comorbid psychopathology would have important implications. Method: A group of…

  10. Challenging Situations when Teaching Children with Autism Spectrum Disorders in General Physical Education

    ERIC Educational Resources Information Center

    Obrusnikova, Iva; Dillon, Suzanna R.

    2011-01-01

    As the first step of an instrument development, teaching challenges that occur when students with autism spectrum disorders are educated in general physical education were elicited using Goldfried and D'Zurilla's (1969) behavioral-analytic model. Data were collected from a convenience sample of 43 certified physical educators (29 women and 14 men)…

  11. Understanding Challenging Behaviors of Students with Autism Spectrum Disorder in Physical Education

    ERIC Educational Resources Information Center

    Lee, Jihyun; Haegele, Justin A.

    2016-01-01

    Challenging behaviors of students with autism spectrum disorder (ASD) may occur for a variety of reasons. These behaviors can contribute to the emotional burnout of teachers and impact the learning and safety of the student with ASD and his or her classmates. Physical education is one educational context where high and multiple risks of…

  12. Challenging Behaviors among Children with Autism Spectrum Disorders and Multiple Disabilities Attending Special Schools in Singapore

    ERIC Educational Resources Information Center

    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…

  13. The Challenge of Attention Deficit Disorder in Children Who Are Deaf or Hard of Hearing.

    ERIC Educational Resources Information Center

    Kelly, Desmond; And Others

    1993-01-01

    This article discusses the manifestations of attention deficit disorder (ADD) in children who are deaf or hard of hearing, the impact of ADD on behavior and performance, its prevalence, recent legislative initiatives, challenges for managing the problem, and directions for future research. (Author/JDD)

  14. Riluzole treatment, survival and diagnostic criteria in Parkinson plus disorders: The NNIPPS Study

    PubMed Central

    Bensimon, Gilbert; Ludolph, Albert; Agid, Yves; Vidailhet, Marie; Payan, Christine; Leigh, P. Nigel

    2009-01-01

    Parkinson plus diseases, comprising mainly progressive supranuclear palsy (PSP) and multiple system atrophy (MSA) are rare neurodegenerative conditions. We designed a double-blind randomized placebo-controlled trial of riluzole as a potential disease-modifying agent in Parkinson plus disorders (NNIPPS: Neuroprotection and Natural History in Parkinson Plus Syndromes). We analysed the accuracy of our clinical diagnostic criteria, and studied prognostic factors for survival. Patients with an akinetic-rigid syndrome diagnosed as having PSP or MSA according to modified consensus diagnostic criteria were considered for inclusion. The psychometric validity (convergent and predictive) of the NNIPPS diagnostic criteria were tested prospectively by clinical and pathological assessments. The study was powered to detect a 40% decrease in relative risk of death within PSP or MSA strata. Patients were randomized to riluzole or matched placebo daily and followed up to 36 months. The primary endpoint was survival. Secondary efficacy outcomes were rates of disease progression assessed by functional measures. A total of 767 patients were randomized and 760 qualified for the Intent to Treat (ITT) analysis, stratified at entry as PSP (362 patients) or MSA (398 patients). Median follow-up was 1095 days (range 249–1095). During the study, 342 patients died and 112 brains were examined for pathology. NNIPPS diagnostic criteria showed for both PSP and MSA excellent convergent validity with the investigators’ assessment of diagnostic probability (point-biserial correlation: MSA rpb = 0.93, P < 0.0001; PSP, rpb = 0.95, P < 0.0001), and excellent predictive validity against histopathology [sensitivity and specificity (95% CI) for PSP 0.95 (0.88–0.98) and 0.84 (0.77–0.87); and for MSA 0.96 (0.88–0.99) and 0.91 (0.86–0.93)]. There was no evidence of a drug effect on survival in the PSP or MSA strata (3 year Kaplan–Meier estimates PSP-riluzole: 0.51, PSP-placebo: 0.50; MSA

  15. What should be done with antisocial personality disorder in the new edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V)?

    PubMed

    Hesse, Morten

    2010-10-27

    Antisocial personality disorder, psychopathy, dissocial personality disorder and sociopathy are constructs that have generally been used to predict recidivism and dangerousness, alongside being used to exclude patients from treatment services. However, 'antisocial personality disorder' has recently begun to emerge as a treatment diagnosis, a development reflected within cognitive behaviour therapy and mentalisation-based psychotherapy. Many of the behaviour characteristics of antisocial personality disorder are, at the same time, being targeted by interventions at criminal justice settings. A significantly higher proportion of published articles focusing on antisocial personality concern treatment when compared to articles on psychopathy. Currently, the proposal for antisocial personality disorder for the Diagnostic and Statistical Manual of Mental Disorders, fifth edition, suggests a major change in the criteria for this disorder. While the present definition focuses mainly on observable behaviours, the proposed revision stresses interpersonal and emotional aspects of the disorder drawing on the concept of psychopathy. The present commentary suggests that developments leading to improvement in the diagnosis of this type of disorder should, rather than focusing exclusively on elements such as dangerousness and risk assessment, point us to ways in which patients can be treated for their problems.

  16. Developing a science of clinical utility in diagnostic classification systems field study strategies for ICD-11 mental and behavioral disorders.

    PubMed

    Keeley, Jared W; Reed, Geoffrey M; Roberts, Michael C; Evans, Spencer C; Medina-Mora, María Elena; Robles, Rebeca; Rebello, Tahilia; Sharan, Pratap; Gureje, Oye; First, Michael B; Andrews, Howard F; Ayuso-Mateos, José Luís; Gaebel, Wolfgang; Zielasek, Juergen; Saxena, Shekhar

    2016-01-01

    The World Health Organization (WHO) Department of Mental Health and Substance Abuse has developed a systematic program of field studies to evaluate and improve the clinical utility of the proposed diagnostic guidelines for mental and behavioral disorders in the Eleventh Revision of the International Classification of Diseases and Related Health Problems (ICD-11). The clinical utility of a diagnostic classification is critical to its function as the interface between health encounters and health information, and to making the ICD-11 be a more effective tool for helping the WHO's 194 member countries, including the United States, reduce the global disease burden of mental disorders. This article describes the WHO's efforts to develop a science of clinical utility in regard to one of the two major classification systems for mental disorders. We present the rationale and methodologies for an integrated and complementary set of field study strategies, including large international surveys, formative field studies of the structure of clinicians' conceptualization of mental disorders, case-controlled field studies using experimental methodologies to evaluate the impact of proposed changes to the diagnostic guidelines on clinicians' diagnostic decision making, and ecological implementation field studies of clinical utility in the global settings in which the guidelines will ultimately be implemented. The results of these studies have already been used in making decisions about the structure and content of ICD-11. If clinical utility is indeed among the highest aims of diagnostic systems for mental disorders, as their developers routinely claim, future revision efforts should continue to build on these efforts. (PsycINFO Database Record

  17. Diagnostic Classification 0-3: Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood.

    ERIC Educational Resources Information Center

    Zero to Three: National Center for Infants, Toddlers and Families, Washington, DC.

    The diagnostic framework presented in this manual seeks to address the need for a systematic, multi-disciplinary, developmentally based approach to the classification of mental health and developmental difficulties in the first 4 years of life. An introduction discusses clinical approaches to assessment and diagnosis, gives an overview of the…

  18. Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood. Diagnostic Classification: 0-3.

    ERIC Educational Resources Information Center

    Wieder, Serena, Ed.

    The diagnostic framework presented in this manual seeks to address the need for a systematic, multidisciplinary, developmentally based approach to the classification of mental health and developmental difficulties in the first 4 years of life. An introduction discusses clinical approaches to assessment and diagnosis, gives an overview of the…

  19. The structure of Diagnostic and Statistical Manual of Mental Disorders (4th edition, text revision) personality disorder symptoms in a large national sample.

    PubMed

    Trull, Timothy J; Vergés, Alvaro; Wood, Phillip K; Jahng, Seungmin; Sher, Kenneth J

    2012-10-01

    We examined the latent structure underlying the criteria for DSM-IV-TR (American Psychiatric Association, 2000, Diagnostic and statistical manual of mental disorders (4th ed., text revision). Washington, DC: Author.) personality disorders in a large nationally representative sample of U.S. adults. Personality disorder symptom data were collected using a structured diagnostic interview from approximately 35,000 adults assessed over two waves of data collection in the National Epidemiologic Survey on Alcohol and Related Conditions. Our analyses suggested that a seven-factor solution provided the best fit for the data, and these factors were marked primarily by one or at most two personality disorder criteria sets. A series of regression analyses that used external validators tapping Axis I psychopathology, treatment for mental health problems, functioning scores, interpersonal conflict, and suicidal ideation and behavior provided support for the seven-factor solution. We discuss these findings in the context of previous studies that have examined the structure underlying the personality disorder criteria as well as the current proposals for DSM-5 personality disorders.

  20. Caregiver-mediated approaches to managing challenging behaviors in children with autism spectrum disorder.

    PubMed

    Grofer Klinger, Laura; Ence, Whitney; Meyer, Allison

    2013-06-01

    A significant proportion of children with autism spectrum disorder (ASD) are referred to mental health centers due to the presence of challenging behaviors. Because challenging behaviors in children and adolescents with ASD often result from underlying social and communication difficulties and comorbid anxiety, traditional caregiver-mediated behavior intervention techniques developed for children with disruptive behavior disorders may need to be adapted for this population. Behavioral interventions that target communication skills, social skills, anxiety, and sensory responsiveness in children with ASD may be needed. Notably, while best practice necessitates the involvement of caregivers in treating children and adolescents with ASD, few randomized control studies have examined the effectiveness of caregiver-implemented interventions in reducing challenging behaviors. This review summarizes the current literature with regard to caregiver-mediated behavioral interventions for children with ASD, and suggests areas for intervention development and research.

  1. Caregiver-mediated approaches to managing challenging behaviors in children with autism spectrum disorder

    PubMed Central

    Grofer Klinger, Laura; Ence, Whitney; Meyer, Allison

    2013-01-01

    A significant proportion of children with autism spectrum disorder (ASD) are referred to mental health centers due to the presence of challenging behaviors. Because challenging behaviors in children and adolescents with ASD often result from underlying social and communication difficulties and comorbid anxiety, traditional caregiver-mediated behavior intervention techniques developed for children with disruptive behavior disorders may need to be adapted for this population. Behavioral interventions that target communication skills, social skills, anxiety, and sensory responsiveness in children with ASD may be needed. Notably, while best practice necessitates the involvement of caregivers in treating children and adolescents with ASD, few randomized control studies have examined the effectiveness of caregiver-implemented interventions in reducing challenging behaviors. This review summarizes the current literature with regard to caregiver-mediated behavioral interventions for children with ASD, and suggests areas for intervention development and research. PMID:24174896

  2. Research Diagnostic Criteria for Temporomandibular Disorders: Validity of Axis I Diagnoses

    PubMed Central

    Truelove, Edmond; Pan, Wei; Look, John O.; Mancl, Lloyd A.; Ohrbach, Richard K.; Velly, Ana; Huggins, Kimberly; Lenton, Patricia; Schiffman, Eric L.

    2011-01-01

    AIMS To estimate the criterion validity of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) Axis I TMD diagnoses. METHODS A combined total of 614 TMD community and clinic cases and 91 controls were examined at 3 study sites. RDC/TMD Axis I diagnoses were algorithmically derived from an examination performed by calibrated dental hygienists. Reference standards (Gold Standards) were established by means of consensus diagnoses rendered by 2 TMD experts using all available clinical data, including imaging studies. Validity of the RDC/TMD Axis I TMD diagnoses was estimated relative to reference-standard diagnoses (gold standard diagnoses). Target sensitivity and specificity were set a priori at ≥ 0.70 and ≥ 0.95, respectively. RESULTS Target sensitivity and specificity were not observed for any of the 8 RDC/TMD diagnoses. The highest validity was achieved for Group Ia myofascial pain (sensitivity 0.65, specificity 0.92) and Group Ib myofascial pain with limited opening (sensitivity 0.79, specificity 0.92). Target sensitivity and specificity were observed only when both Group I diagnoses were combined (0.87 and 0.98, respectively). For Group II (disc displacements) and Group III (arthralgia, arthritis, arthrosis) diagnoses, all estimates for sensitivity were below target (0.03 to 0.53), and specificity ranged from below to on target (0.86 to 0.99). CONCLUSION The RDC/TMD Axis I TMD diagnoses did not reach the targets set at sensitivity of ≥ 0.70 and specificity of ≥ 0.95. Target validity was obtained only for myofascial pain without differentiation between normal and limited opening. Revision of the current Axis I TMD diagnostic algorithms is warranted to improve their validity. PMID:20213030

  3. Diagnostic Predictors of Obesity-Hypoventilation Syndrome in Patients Suspected of Having Sleep Disordered Breathing

    PubMed Central

    Macavei, Vladimir M.; Spurling, Kristofer J.; Loft, Janine; Makker, Himender K.

    2013-01-01

    Introduction: Obesity-hypoventilation syndrome (OHS) is associated with significant morbidity and mortality and requires measurement of arterial pCO2 for diagnosis. Objective: To determine diagnostic predictors of OHS among obese patients with suspected obstructive sleep apnea/hypopnea syndrome (OSAHS). Methods: Retrospective analysis of data on 525 sleep clinic patients (mean age 51.4 ± 12.7 years; 65.7% males; mean BMI 34.5 ± 8.1). All patients had sleep studies, and arterialized capillary blood gases (CBG) were measured in obese subjects (BMI > 30 kg/m2). Results: Of 525 patients, 65.5% were obese, 37.2% were morbidly obese (BMI > 40 kg/m2); 52.3% had confirmed OSAHS. Hypercapnia (pCO2 > 6 kPa or 45 mm Hg) was present in 20.6% obese and 22.1% OSAHS patients. Analysis of OHS predictors showed significant correlations between pCO2 and BMI, FEV1, FVC, AHI, mean and minimum nocturnal SpO2, sleep time with SpO2 < 90%, pO2, and calculated HCO3 from the CBG. PO2 and HCO3 were independent predictors of OHS, explaining 27.7% of pCO2 variance (p < 0.0001). A calculated HCO3 cutoff > 27 mmol/L had 85.7% sensitivity and 89.5% specificity for diagnosis of OHS, with 68.1% positive and 95.9% negative predictive value. Conclusion: We confirmed a high prevalence of OHS in obese OSAHS patients (22.1%) and high calculated HCO3 level (> 27 mmol/L) to be a sensitive and specific predictor for the diagnosis of OHS. Citation: Macavei VM; Spurling KJ; Loft J; Makker HK. Diagnostic predictors of obesity-hypoventilation syndrome in patients suspected of having sleep disordered breathing. J Clin Sleep Med 2013;9(9):879-884. PMID:23997700

  4. A Review of Diagnostic Methods for Invasive Fungal Diseases: Challenges and Perspectives.

    PubMed

    Falci, Diego R; Stadnik, Claudio M B; Pasqualotto, Alessandro C

    2017-03-29

    Invasive fungal diseases are associated with a high morbidity and mortality, particularly in the context of immunosuppression. Diagnosis of invasive fungal diseases is usually complicated by factors such as poor clinical suspicion and unspecific clinical findings. Access to modern diagnostic tools is frequently limited in developing countries. Here, we describe five real-life clinical cases from a Brazilian tertiary hospital, in order to illustrate how to best select diagnostic tests in patients with different fungal infections.

  5. Actigraphy as a diagnostic aid for REM sleep behavior disorder in Parkinson’s disease

    PubMed Central

    2014-01-01

    Background Rapid eye movement (REM) sleep behavior disorder (RBD) is a common parasomnia in Parkinson’s disease (PD) patients. The current International Classification of Sleep Disorders (ICSD-II) requires a clinical interview combined with video polysomnography (video-PSG) to diagnose. The latter is time consuming and expensive and not always feasible in clinical practice. Here we studied the use of actigraphy as a diagnostic tool for RBD in PD patients. Methods We studied 45 consecutive PD patients (66.7% men) with and without complaints of RBD. All patients underwent one night of video-PSG and eight consecutive nights of actigraphy. Based on previous studies, the main outcome measure was the total number of bouts classified as “wake”, compared between patients with (PD + RBD) and without RBD (PD- RBD). Results 23 (51.1%) patients had RBD according to the ICSD-II criteria. The total number of wake bouts was significantly higher in RBD patients (PD + RBD 73.2 ± 40.2 vs. PD-RBD 48.4 ± 23.3, p = .016). A cut off of 95 wake bouts per night resulted in a specificity of 95.5%, a sensitivity of 20.1% and a positive predictive value of 85.7%. Seven patients were suspected of RBD based on the interview alone, but not confirmed on PSG; six of whom scored below 95 wake bouts per night on actigraphy. Conclusion PD patients with RBD showed a significantly higher number of bouts scored as “wake” using actigraphy, compared to patients without RBD. In clinical practice, actigraphy has a high specificity, but low sensitivity in the diagnosis of RBD. The combination of actigraphy and previously reported RBD questionnaires may be a promising method to diagnose RBD in patients with PD. PMID:24708629

  6. Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.

    PubMed

    Kutkowska-Kaźmierczak, Anna; Niepokój, Katarzyna; Wertheim-Tysarowska, Katarzyna; Giza, Aleksandra; Mordasewicz-Goliszewska, Maria; Bal, Jerzy; Obersztyn, Ewa

    2015-08-01

    Connexins belong to the family of gap junction proteins which enable direct cell-to-cell communication by forming channels in adjacent cells. Mutations in connexin genes cause a variety of human diseases and, in a few cases, result in skin disorders. There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis-ichthyosis-deafness (KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively. This is despite the fact that, in both cases, malfunctioning of the same family proteins and some overlapping clinical features (nail dystrophy, hair loss, and palmoplantar keratoderma) is observed. KID syndrome is characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss, whereas Clouston syndrome is characterized by nail dystrophy, hypotrichosis, and palmoplantar keratoderma. The present paper presents a Polish patient with sporadic KID syndrome caused by the mutation of p.Asp50Asn in GJB2. The patient encountered difficulties in obtaining a correct diagnosis. The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder. Phenotype diversity among patients with the same genotypes reported to date is also summarized. The conclusion is that proper diagnosis of these syndromes is still challenging and should always be followed by molecular verification.

  7. Effects of 7.5% CO2 challenge in generalized anxiety disorder.

    PubMed

    Seddon, Kate; Morris, Kelly; Bailey, Jayne; Potokar, John; Rich, Ann; Wilson, Sue; Bettica, Paolo; Nutt, David J

    2011-01-01

    We have previously developed a putative model of generalized anxiety disorder in healthy volunteers using a 20-minute 7.5% carbon dioxide (CO(2)) inhalation challenge. The aim of this study was to validate the 7.5% CO(2) paradigm by assessing its effects in patients with generalized anxiety disorder in a test-retest design. Twelve medication-free generalized anxiety disorder patients attended our lab for two study days. On each study day placebo (compressed air) and 7.5% CO(2) mixture were randomly administered over 20 min, at least 30 min apart, in a single blind, randomized, placebo-controlled cross-over design. Subjective ratings, cardiovascular measures and cortisol levels were collected throughout. CO(2) challenge significantly increased ratings for anxiety and other subjective symptoms associated with generalized anxiety disorder, compared with air. It also significantly increased systolic blood pressure on day 2, indicating increased autonomic arousal. There was no change between the two test days in mean anxiety rating scores, and there also appeared to be a correlation for individual scores on a number of the subjective measures. In conclusion, 20 min of 7.5% CO(2) gas inhalation increases anxiety responses in patients with generalized anxiety disorder, and this is reliable over time.

  8. Progress and challenges in using human stem cells for biological and therapeutics discovery: neuropsychiatric disorders

    PubMed Central

    Panchision, David M.

    2016-01-01

    In facing the daunting challenge of using human embryonic and induced pluripotent stem cells (hESCs, hiPSCs) to study complex neural circuit disorders such as schizophrenia (SCZ), mood and anxiety disorders and autism spectrum disorders (ASDs), a 2012 National Institute of Mental Health workshop produced a set of recommendations to advance basic research and engage industry in cell-based studies of neuropsychiatric disorders. This review describes progress in meeting these recommendations, including the development of novel tools, strides in recapitulating relevant cell and tissue types, insights into the genetic basis of these disorders that permit integration of risk-associated gene regulatory networks with cell/circuit phenotypes, and promising findings of patient-control differences using cell-based assays. However, numerous challenges are still being addressed, requiring further technological development, approaches to resolve disease heterogeneity and collaborative structures for investigators of different disciplines. Additionally, since data obtained so far is on small sample sizes, replication in larger sample sets is needed. A number of individual success stories point to a path forward in developing assays to translate discovery science to therapeutics development. PMID:26840228

  9. The diagnostic utility of separation anxiety disorder symptoms: an item response theory analysis.

    PubMed

    Cooper-Vince, Christine E; Emmert-Aronson, Benjamin O; Pincus, Donna B; Comer, Jonathan S

    2014-01-01

    At present, it is not clear whether the current definition of separation anxiety disorder (SAD) is the optimal classification of developmentally inappropriate, severe, and interfering separation anxiety in youth. Much remains to be learned about the relative contributions of individual SAD symptoms for informing diagnosis. Two-parameter logistic Item Response Theory analyses were conducted on the eight core SAD symptoms in an outpatient anxiety sample of treatment-seeking children (N = 359, 59.3 % female, M Age = 11.2) and their parents to determine the diagnostic utility of each of these symptoms. Analyses considered values of item threshold, which characterize the SAD severity level at which each symptom has a 50 % chance of being endorsed, and item discrimination, which characterize how well each symptom distinguishes individuals with higher and lower levels of SAD. Distress related to separation and fear of being alone without major attachment figures showed the strongest discrimination properties and the lowest thresholds for being endorsed. In contrast, worry about harm befalling attachment figures showed the poorest discrimination properties, and nightmares about separation showed the highest threshold for being endorsed. Distress related to separation demonstrated crossing differential item functioning associated with age-at lower separation anxiety levels excessive fear at separation was more likely to be endorsed for children ≥9 years, whereas at higher levels this symptom was more likely to be endorsed by children <9 years. Implications are discussed for optimizing the taxonomy of SAD in youth.

  10. Diagnostic imaging for spinal disorders in the elderly: a narrative review.

    PubMed

    Taylor, John Am; Bussières, André

    2012-05-24

    The high prevalence of neck and low back pain in the rapidly aging population is associated with significant increases in health care expenditure. While spinal imaging can be useful to identify less common causes of neck and back pain, overuse and misuse of imaging services has been widely reported. This narrative review aims to provide primary care providers with an overview of available imaging studies with associated potential benefits, adverse effects, and costs for the evaluation of neck and back pain disorders in the elderly population. While the prevalence of arthritis and degenerative disc disease increase with age, fracture, infection, and tumor remain uncommon. Prevalence of other conditions such as spinal stenosis and abdominal aortic aneurysm (AAA) also increase with age and demand special considerations. Radiography of the lumbar spine is not recommended for the early management of non-specific low back pain in adults under the age of 65. Aside from conventional radiography for suspected fracture or arthritis, magnetic resonance imaging (MRI) and computed tomography (CT) offer better characterization of most musculoskeletal diseases. If available, MRI is usually preferred over CT because it involves less radiation exposure and has better soft-tissue visualization. Use of subspecialty radiologists to interpret diagnostic imaging studies is recommended.

  11. Clinical diagnostic and intervention studies of children with semantic-pragmatic language disorder.

    PubMed

    Adams, C

    2001-01-01

    The diagnosis of semantic-pragmatic language disorder (SPLD) has been the subject of a number of research studies over the last two decades. Classification and diagnostic debates, while illuminating, have done little to develop tools to improve services to these children. In this paper, two children whose communication difficulties are suggestive of an SPLD diagnosis but who have differing profiles are studied. Using existing models of psycholinguistics and pragmatics to guide assessment and intervention, the diversity of language and social communicative behaviours that are covered by the label SPLD are exemplified. Consideration is given to whether the term SPLD is appropriate for both children or whether Bishop's revision of the diagnosis to 'pragmatic language impairment' might be more useful. Methods of intervention and evaluation for semantic and pragmatic deficits in these two cases are described. It is argued that existing tools can enable accurate explanation and modelling of the communication of children with SPLD and that there is a role for intervention studies in helping to refine those tools, to improve therapies and to understand the nature of the condition more fully.

  12. Blood diagnostic biomarkers for major depressive disorder using multiplex DNA methylation profiles: discovery and validation.

    PubMed

    Numata, Shusuke; Ishii, Kazuo; Tajima, Atsushi; Iga, Jun-ichi; Kinoshita, Makoto; Watanabe, Shinya; Umehara, Hidehiro; Fuchikami, Manabu; Okada, Satoshi; Boku, Shuken; Hishimoto, Akitoyo; Shimodera, Shinji; Imoto, Issei; Morinobu, Shigeru; Ohmori, Tetsuro

    2015-01-01

    Aberrant DNA methylation in the blood of patients with major depressive disorder (MDD) has been reported in several previous studies. However, no comprehensive studies using medication-free subjects with MDD have been conducted. Furthermore, the majority of these previous studies has been limited to the analysis of the CpG sites in CpG islands (CGIs) in the gene promoter regions. The main aim of the present study is to identify DNA methylation markers that distinguish patients with MDD from non-psychiatric controls. Genome-wide DNA methylation profiling of peripheral leukocytes was conducted in two set of samples, a discovery set (20 medication-free patients with MDD and 19 controls) and a replication set (12 medication-free patients with MDD and 12 controls), using Infinium HumanMethylation450 BeadChips. Significant diagnostic differences in DNA methylation were observed at 363 CpG sites in the discovery set. All of these loci demonstrated lower DNA methylation in patients with MDD than in the controls, and most of them (85.7%) were located in the CGIs in the gene promoter regions. We were able to distinguish patients with MDD from the control subjects with high accuracy in the discriminant analysis using the top DNA methylation markers. We also validated these selected DNA methylation markers in the replication set. Our results indicate that multiplex DNA methylation markers may be useful for distinguishing patients with MDD from non-psychiatric controls.

  13. The history of nosology and the rise of the Diagnostic and Statistical Manual of Mental Disorders

    PubMed Central

    Shorter, Edward

    2015-01-01

    The current Diagnostic and Statistical Manual of Mental Disorders (DSM)-5 arose from a tradition filled with haphazard science and politically driven choices. The nosology of modern psychiatry began with the German classifiers of the late 19th century, especially Emil Kraepelin. Psychoanalysis then blotted out the classificatory vision for the next half-century, and most of this European psychopathological science failed to cross the Atlantic. The DSM series was a homegrown American product, beginning with Medical 203 in 1945, then guided by psychoanalytic insights through DSM-I in 1952 and DSM-II in 1968. In 1980, DSM-III represented a massive “turning of the page” in nosology, and it had the effect of steering psychoanalysis toward the exit in psychiatry and the beginning of a reconciliation of psychiatry with the rest of medicine. With the advent of DSM-5, however, questions are starting to be asked about whether this massive venture is on the right track. PMID:25987864

  14. Should A2 be a diagnostic requirement for posttraumatic stress disorder in DSM-V?

    PubMed

    O'Donnell, Meaghan L; Creamer, Mark; McFarlane, Alexander C; Silove, Derrick; Bryant, Richard A

    2010-04-30

    The requirement that trauma survivors experience fear, helplessness or horror (Criterion A2) as a part of their posttraumatic stress disorder (PTSD) diagnosis was introduced into DSM-IV. The imminent re-definition of PTSD in DSM-V highlights the need for empirical studies to validate the utility of the A2 requirement. We aimed to identify (i) how often A2 was associated with PTSD (B-F criteria) at 3 months after trauma and (ii) what was the peritraumatic emotional experience for those who met PTSD criteria but were A2 negative. In a prospective design cohort study we assessed the peritraumatic emotional experience of 535 injury patients in four Australian hospitals. These patients were followed up 3 months later and assessed for PTSD using a structured clinical interview. The majority of those who developed PTSD (B-F criterion) at 3 months met A2 criteria. A substantial minority, however (23%), did not meet A2 criteria. Those PTSD patients who were A2 negative fell into three groups: (i) those who experienced subthreshold levels of A2; (ii) those who experienced intense peritrauma emotional responses other than fear, helplessness or horror; and (iii) those who were amnesic to their peritrauma emotional experience. These findings do not support the inclusion of A2 as diagnostic requirement for DSM-V.

  15. Psychiatric presentation of sporadic Creutzfeldt-Jakob disease: a challenge to current diagnostic criteria.

    PubMed

    Ali, Rehiana; Baborie, Atik; Larner, Andrew J; White, Richard

    2013-01-01

    Pathological diagnosis remains the gold standard for the diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD), but being able to differentiate between CJD and non-prion diseases clinically is important because many of the non-prion, rapidly progressive dementias are treatable. Diagnostic criteria need both high sensitivity and specificity while remaining applicable to clinical practice. Despite extensive updates to the clinical criteria for sCJD, there remains a heavy emphasis on neurological signs. We describe a psychiatric presentation of sCJD that did not fulfill the diagnostic criteria until very late in a prolonged disease course and required biopsy for diagnosis.

  16. DIAGNOSTIC CLASSIFICATION OF MENTAL HEALTH AND DEVELOPMENTAL DISORDERS OF INFANCY AND EARLY CHILDHOOD DC:0-5: SELECTIVE REVIEWS FROM A NEW NOSOLOGY FOR EARLY CHILDHOOD PSYCHOPATHOLOGY.

    PubMed

    Zeanah, Charles H; Carter, Alice S; Cohen, Julie; Egger, Helen; Gleason, Mary Margaret; Keren, Miri; Lieberman, Alicia; Mulrooney, Kathleen; Oser, Cindy

    2016-09-01

    The Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood: Revised Edition (DC:0-5; ZERO TO THREE) is scheduled to be published in 2016. The articles in this section are selective reviews that have been undertaken as part of the process of refining and updating the nosology. They provide the rationales for new disorders, for disorders that had not been included previously in the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood: Revised Edition (DC:0-3R; ZERO TO THREE, 2005), and for changes in how certain types of disorders are conceptualized.

  17. Impact of obesity on the psychometric properties of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for major depressive disorder.

    PubMed

    Zimmerman, Mark; Hrabosky, Joshua I; Francione, Caren; Young, Diane; Chelminski, Iwona; Dalrymple, Kristy; Galione, Janine N

    2011-01-01

    Obesity is associated with several symptoms that are components of the diagnostic criteria for major depressive disorder (MDD). Compared with nonobese individuals, obese individuals report more fatigue, sleep disturbance, and overeating. Obesity might, therefore, impact the psychometric properties of the MDD criteria. The goal of the present report from the Rhode Island Hospital Methods to Improve Diagnostic Assessment and Services project was to examine the impact of obesity on the psychometric characteristics of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition symptom criteria for major depression. Two thousand four hundred forty-eight psychiatric outpatients were administered a semistructured diagnostic interview. We inquired about all symptoms of depression for all patients. The mean sensitivity of the 9 criteria in the nonobese and obese patients was nearly identical (74.6% vs 74.3%). The mean specificity was slightly higher in the nonobese patients (82.0% vs 79.5%). No symptom was more specific in the obese than the nonobese patients, whereas the specificity of increased appetite, increased weight, and fatigue was more than 5% lower in the obese patients. Increased appetite, increased weight, hypersomnia, and fatigue had a higher sensitivity in the obese than the nonobese patients, whereas decreased appetite, weight loss, and diminished concentration had a higher sensitivity in the nonobese than the obese patients. Thus, although there were small differences between obese and nonobese patients in the operating characteristics of some symptoms, the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for MDD generally performed equally well for obese and nonobese patients.

  18. A Review of the Diagnostic Methods Reported in the Journal of Autism and Developmental Disorders.

    ERIC Educational Resources Information Center

    Waller, Stacey A.; Armstrong, Kevin J.; McGrath, Ann M.; Sullivan, Cristin L.

    1999-01-01

    This review summarizes subject selection and diagnostic procedures documented in 142 empirical articles published between 1993 and 1997. Although most researchers reported use of standard diagnostic criteria in classifying subjects, numerous studies did not report diagnostic methods and there was often a lack of specification of inclusion and…

  19. Monoclonal gammopathy of renal significance with light-chain deposition disease diagnosed postrenal transplant: a diagnostic and therapeutic challenge.

    PubMed

    Nambirajan, Aruna; Bhowmik, Dipankar; Singh, Geetika; Agarwal, Sanjay Kumar; Dinda, Amit Kumar

    2015-03-01

    Patients with light-chain deposition disease (LCDD) frequently do not meet criteria for myeloma. In such cases, despite low tumor burden, the circulating monoclonal immunoglobulins cause renal damage, are responsible for post-transplant recurrence, and are rightly categorized as monoclonal gammopathy of renal significance (MGRS) requiring chemotherapy. A 65-year male with uncharacterized nodular glomerulopathy presented with proteinuria 3 years postrenal transplant. His allograft biopsies were diagnostic of light-chain deposition disease (likely recurrent), and in the absence of myeloma, he was labeled as MGRS. Based on the limited literature available, he was treated with bortezomib which resulted in normalization of serum-free light-chain ratios and resolution of proteinuria. He, however, later succumbed to complications of chemotherapy. This case highlights the diagnostic difficulties in LCDD, the importance of an accurate pretransplant diagnosis, and treatment of the malignant clone, in the absence of which post-transplant management of recurrence is challenging with poor outcomes.

  20. Challenges in the diagnosis and treatment of depression in autism spectrum disorders across the lifespan.

    PubMed

    Chandrasekhar, Tara; Sikich, Linmarie

    2015-06-01

    Diagnosis and treatment of comorbid neuropsychiatric illness is often a secondary focus of treatment in individuals with autism spectrum disorder (ASD), given that substantial impairment may be caused by core symptoms of ASD itself. However, psychiatric comorbidities, including depressive disorders, are common and frequently result in additional functional impairment, treatment costs, and burden on caregivers. Clinicians may struggle to appropriately diagnose depression in ASD due to communication deficits, atypical presentation of depression in ASD, and lack of standardized diagnostic tools. Specific risk and resilience factors for depression in ASD across the lifespan, including level of functioning, age, family history, and coping style, have been suggested, but require further study. Treatment with medications or psychotherapy may be beneficial, though more research is required to establish guidelines for management of symptoms. This review will describe typical presentations of depression in individuals with ASD, review current information on the prevalence, assessment, and treatment of comorbid depression in individuals with ASD, and identify important research gaps.

  1. The challenge of treating conduct disorder in low-resourced settings: rap music to the rescue.

    PubMed

    Evans, Dylan J

    2010-12-01

    Conduct disorder is one of the most frequent serious childhood problems that present for treatment in community clinic settings. Evidence-based treatments for conduct disorder are intensive and require considerable resources to implement. In low-resourced contexts it is often not feasible to implement evidence-based treatments in their current form, which poses significant challenges for clinicians attempting to treat children in these settings. This article explores these challenges using a case study of the treatment of a young adolescent boy with a short-term multisystem intervention where rap music was employed as a powerful tool to facilitate an empathic connection in therapy and as a projective technique to explore underlying emotional difficulties.

  2. Self-esteem and social anxiety in an adolescent female eating disorder population: age and diagnostic effects.

    PubMed

    Obeid, Nicole; Buchholz, Annick; Boerner, Katelynn E; Henderson, Katherine A; Norris, Mark

    2013-01-01

    This study explored symptoms of social anxiety and multidimensional self-esteem in a clinical, adolescent female eating disorder population. Using self-report measures, data from 344 females revealed significant negative relationships between dimensions of self-esteem and social anxiety. A diagnostic difference emerged, with the restricting subgroup reporting significantly higher perceived physical appearance and global self-worth than those with binge/purge symptoms or bulimia nervosa. No significant age differences or age by diagnosis interaction effects emerged. These findings suggest that in clinical samples of adolescent eating disorders, self-esteem and social anxiety share a significant inverse relationship and seem to remain fairly constant across adolescence.

  3. Using Copula Distributions to Support More Accurate Imaging-Based Diagnostic Classifiers for Neuropsychiatric Disorders

    PubMed Central

    Bansal, Ravi; Hao, Xuejun; Liu, Jun; Peterson, Bradley S.

    2014-01-01

    Many investigators have tried to apply machine learning techniques to magnetic resonance images (MRIs) of the brain in order to diagnose neuropsychiatric disorders. Usually the number of brain imaging measures (such as measures of cortical thickness and measures of local surface morphology) derived from the MRIs (i.e., their dimensionality) has been large (e.g. >10) relative to the number of participants who provide the MRI data (<100). Sparse data in a high dimensional space increases the variability of the classification rules that machine learning algorithms generate, thereby limiting the validity, reproducibility, and generalizability of those classifiers. The accuracy and stability of the classifiers can improve significantly if the multivariate distributions of the imaging measures can be estimated accurately. To accurately estimate the multivariate distributions using sparse data, we propose to estimate first the univariate distributions of imaging data and then combine them using a Copula to generate more accurate estimates of their multivariate distributions. We then sample the estimated Copula distributions to generate dense sets of imaging measures and use those measures to train classifiers. We hypothesize that the dense sets of brain imaging measures will generate classifiers that are stable to variations in brain imaging measures, thereby improving the reproducibility, validity, and generalizability of diagnostic classification algorithms in imaging datasets from clinical populations. In our experiments, we used both computer-generated and real-world brain imaging datasets to assess the accuracy of multivariate Copula distributions in estimating the corresponding multivariate distributions of real-world imaging data. Our experiments showed that diagnostic classifiers generated using imaging measures sampled from the Copula were significantly more accurate and more reproducible than were the classifiers generated using either the real-world imaging

  4. Autism according to diagnostic and statistical manual of mental disorders 5th edition: The need for further improvements

    PubMed Central

    Posar, Annio; Resca, Federica; Visconti, Paola

    2015-01-01

    The fifth edition of the diagnostic and statistical manual of mental disorders (DSM-5) introduced significant changes in the classification of autism spectrum disorders (ASD), including the abolition of the diagnostic subcategories proposed by DSM-IV-Text Revision. DSM-5 describes three levels of increasing severity of ASD. The authors report two explanatory cases with ASD (verbal boys, aged about 7 and a half years, without intellectual disability). According to DSM-5, both cases fall into the lowest severity level of ASD. However, their neuropsychological and neurobehavioral profile varies significantly. While the first boy showed a prevalent impairment of visuoconstructional and visuoperceptual abilities, the second one presented a predominant involvement of verbal functions, with qualitative impairments in communication. A further step forward in the definition and classification of ASD, taking into account both intensity and quality of symptoms, is recommended in order to formulate a reliable prognosis, plan an individualized treatment and monitor the clinical course over time. PMID:26167220

  5. Autism according to diagnostic and statistical manual of mental disorders 5(th) edition: The need for further improvements.

    PubMed

    Posar, Annio; Resca, Federica; Visconti, Paola

    2015-01-01

    The fifth edition of the diagnostic and statistical manual of mental disorders (DSM-5) introduced significant changes in the classification of autism spectrum disorders (ASD), including the abolition of the diagnostic subcategories proposed by DSM-IV-Text Revision. DSM-5 describes three levels of increasing severity of ASD. The authors report two explanatory cases with ASD (verbal boys, aged about 7 and a half years, without intellectual disability). According to DSM-5, both cases fall into the lowest severity level of ASD. However, their neuropsychological and neurobehavioral profile varies significantly. While the first boy showed a prevalent impairment of visuoconstructional and visuoperceptual abilities, the second one presented a predominant involvement of verbal functions, with qualitative impairments in communication. A further step forward in the definition and classification of ASD, taking into account both intensity and quality of symptoms, is recommended in order to formulate a reliable prognosis, plan an individualized treatment and monitor the clinical course over time.

  6. Challenges and opportunities for checkpoint blockade in T-cell lymphoproliferative disorders.

    PubMed

    Phillips, Tycel; Devata, Sumana; Wilcox, Ryan A

    2016-01-01

    The T-cell lymphoproliferative disorders are a heterogeneous group of non-Hodgkin's lymphomas (NHL) for which current therapeutic strategies are inadequate, as most patients afflicted with these NHL will succumb to disease progression within 2 years of diagnosis. Appreciation of the genetic and immunologic landscape of these aggressive NHL, including PD-L1 (B7-H1, CD274) expression by malignant T cells and within the tumor microenvironment, provides a strong rationale for therapeutic targeting this immune checkpoint. While further studies are needed, the available data suggests that responses with PD-1 checkpoint blockade alone will unlikely approach those achieved in other lymphoproliferative disorders. Herein, we review the unique challenges posed by the T-cell lymphoproliferative disorders and discuss potential strategies to optimize checkpoint blockade in these T-cell derived malignancies.

  7. Post-traumatic shoulder movement disorders: A challenging differential diagnosis between organic and functional

    PubMed Central

    Pandey, Sanjay; Nahab, Fatta; Aldred, Jason; Nutt, John; Hallett, Mark

    2014-01-01

    Peripheral trauma may be a trigger for the development of various movement disorders though the pathophysiology remains controversial and some of these patients have a functional (psychogenic) disorder. We report 3 cases of shoulder movement disorders following trauma to the shoulder region. Physiology was done in all the patients to extend the physical examination. Two patients had history of recurrent shoulder dislocation and were diagnosed with Ehlers-Danlos syndrome. One patient had shoulder injury following repeated falls while performing as a cheerleader. In two patients there were some clinical features suggesting a functional etiology, but physiological studies in all three failed to produce objective evidence of a functional nature. Shoulder movement following trauma is uncommon. Diagnosis in such cases is challenging considering the complex pathophysiology. The movements can be associated with prolonged pain and handicap, and once established they appear resistant to treatment. PMID:25197686

  8. The Grape Antioxidant Resveratrol for Skin Disorders: Promise, Prospects, and Challenges

    PubMed Central

    Ndiaye, Mary; Philippe, Carol; Mukhtar, Hasan; Ahmad, Nihal

    2011-01-01

    Resveratrol, a phytoalexin antioxidant found in red grapes, has been shown to have both chemopreventive and therapeutic effects against many diseases and disorders, including those of the skin. Studies have shown protective effects of resveratrol against ultraviolet radiation mediated oxidative stress and cutaneous damages including skin cancer. Because many of the skin conditions stem from ultraviolet radiation and oxidative stress, this antioxidant appears to have promise and prospects against a wide range of cutaneous disorders including skin aging and skin cancers. However, there are a few roadblocks in the way of this promising agent regarding its translation from the bench to the bedside. This review discusses the promise and prospects of resveratrol in the management of skin disorders and the associated challenges. PMID:21215251

  9. Post-traumatic shoulder movement disorders: A challenging differential diagnosis between organic and functional.

    PubMed

    Pandey, Sanjay; Nahab, Fatta; Aldred, Jason; Nutt, John; Hallett, Mark

    2014-06-01

    Peripheral trauma may be a trigger for the development of various movement disorders though the pathophysiology remains controversial and some of these patients have a functional (psychogenic) disorder. We report 3 cases of shoulder movement disorders following trauma to the shoulder region. Physiology was done in all the patients to extend the physical examination. Two patients had history of recurrent shoulder dislocation and were diagnosed with Ehlers-Danlos syndrome. One patient had shoulder injury following repeated falls while performing as a cheerleader. In two patients there were some clinical features suggesting a functional etiology, but physiological studies in all three failed to produce objective evidence of a functional nature. Shoulder movement following trauma is uncommon. Diagnosis in such cases is challenging considering the complex pathophysiology. The movements can be associated with prolonged pain and handicap, and once established they appear resistant to treatment.

  10. A comparison of three Rorschach diagnostic systems and use of the Hand Test for detecting multiple personality disorder in outpatients.

    PubMed

    Young, G R; Wagner, E E; Finn, R F

    1994-06-01

    Eleven individuals diagnosed with multiple personality disorder (MPD) on the basis of clinical observation by experienced therapists plus elevated scores on the Dissociative Experiences Scale (DES; Bernstein & Putnam, 1986) were administered the Rorschach Inkblot Test and the Hand Test. Results from the sample (n = 11) and a matched control group (N = 22) were analyzed and discussed in accordance with previous Rorschach diagnostic systems. The Wagner Signs diagnosed 91% (n = 10) of the MPD cases in this outpatient sample, with no false positives. The Labott Signs were found to have no utility, and the Barach Signs, when they occurred, seemed to be diagnostic of MPD but yielded a high rate of false negatives. Hand Test results were analyzed and found to be possibly diagnostic of MPD. Tentative criteria were proposed for its use as an additional tool for diagnosing MPD.

  11. Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an Adult Autism Spectrum Disorder Diagnostic Clinic

    ERIC Educational Resources Information Center

    Wilson, C. Ellie; Gillan, Nicola; Spain, Deborah; Robertson, Dene; Roberts, Gedeon; Murphy, Clodagh M.; Maltezos, Stefanos; Zinkstok, Janneke; Johnston, Katie; Dardani, Christina; Ohlsen, Chris; Deeley, P. Quinton; Craig, Michael; Mendez, Maria A.; Happé, Francesca; Murphy, Declan G. M.

    2013-01-01

    An Autism Spectrum Disorder (ASD) diagnosis is often used to access services. We investigated whether ASD diagnostic outcome varied when DSM-5 was used compared to ICD-10R and DSM-IV-TR in a clinical sample of 150 intellectually able adults. Of those diagnosed with an ASD using ICD-10R, 56% met DSM-5 ASD criteria. A further 19% met DSM-5 (draft)…

  12. Scientific Forum on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V)-An Invitation.

    PubMed

    Aboraya, Ahmed

    2010-11-01

    The publication of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V) is anticipated in May 2013 with many new additions and changes. In this article, the author summarizes the phases of psychiatric classification from the turn of the 20th century until today. Psychiatry 2010 offers a DSM-V Scientific Forum and invites readers to submit comments, recommendations, and articles to Psychiatry 2010 and DSM-V Task Force.

  13. A Comparison of DSM-5 and DSM-IV Diagnostic Criteria for Posttraumatic Stress Disorder in Traumatized Refugees.

    PubMed

    Schnyder, Ulrich; Müller, Julia; Morina, Naser; Schick, Matthis; Bryant, Richard A; Nickerson, Angela

    2015-08-01

    The aim of this study was to compare the prevalence rate and factor structure of posttraumatic stress disorder (PTSD) based on the diagnostic criteria of the fourth and fifth editions of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV; DSM-5; American Psychiatric Association, , ) in traumatized refugees. There were 134 adult treatment-seeking, severely and multiply traumatized patients from various refugee backgrounds were assessed in their mother tongue using a computerized set of questionnaires consisting of a trauma list, the Posttraumatic Diagnostic Scale, and the new PTSD items that had been suggested by the DSM-5 Task Force of the American Psychiatric Association. Using DSM-IV, 60.4% of participants met diagnostic criteria for PTSD; using DSM-5, only 49.3% fulfilled all criteria (p < .001). Confirmatory factor analysis of DSM-IV and DSM-5 items showed good and comparable model fits. Furthermore, classification functions in the DSM-5 were satisfactory. The new Cluster D symptoms showed relatively high sensitivity, specificity, positive predictive power, and negative predictive power. The DSM-5 symptom structure appears to be applicable to traumatized refugees. Negative alterations in cognitions and mood may be especially useful for clinicians, not only to determine the extent to which an individual refugee is likely to meet criteria for PTSD, but also in providing targets for clinical intervention.

  14. Comparing the utility of DSM-5 Section II and III antisocial personality disorder diagnostic approaches for capturing psychopathic traits.

    PubMed

    Few, Lauren R; Lynam, Donald R; Maples, Jessica L; MacKillop, James; Miller, Joshua D

    2015-01-01

    The current study compares the 2 diagnostic approaches (Section II vs. Section III) included in the Diagnostic and Statistical Manual for Mental Disorders-5 (DSM-5; American Psychiatric Association, 2013) for diagnosis of antisocial personality disorder (ASPD) in terms of their relations with psychopathic traits and externalizing behaviors (EBs). The Section III approach to ASPD, which is more explicitly trait-based than the Section II approach, also includes a psychopathy specifier (PS) that was created with the goal of making the diagnosis of ASPD more congruent with psychopathy. In a community sample of individuals currently receiving mental health treatment (N = 106), ratings of the 2 DSM-5 diagnostic approaches were compared in relation to measures of psychopathy, as well as indices of EBs. Both DSM-5 ASPD approaches were significantly related to the psychopathy scores, although the Section III approach accounted for almost twice the amount of variance when compared with the Section II approach. Relatively little of this predictive advantage, however, was due to the PS, as these traits manifested little evidence of incremental validity in relation to existing psychopathy measures and EBs, with the exception of a measure of fearless dominance. Overall, the DSM-5 Section III diagnostic approach for ASPD is more convergent with the construct of psychopathy, from which ASPD was originally derived. These improvements, however, are due primarily to the new trait-based focus in the Section III ASPD diagnosis rather than the assessment of personality dysfunction or the inclusion of additional "psychopathy-specific" traits.

  15. Restricted and repetitive behaviors in toddlers and preschoolers with autism spectrum disorders based on the Autism Diagnostic Observation Schedule (ADOS).

    PubMed

    Kim, So Hyun; Lord, Catherine

    2010-08-01

    Restricted and repetitive behaviors (RRBs) observed during the Autism Diagnostic Observation Schedule [ADOS: Lord et al., 2000] were examined in a longitudinal data set of 455 toddlers and preschoolers (age 8-56 months) with clinical diagnosis of Autism Spectrum Disorders (ASD; autism, n=121 and pervasive developmental disorders-not otherwise specified (PDD-NOS), n=71), a nonspectrum disorder (NS; n=90), or typical development (TD; n=173). Even in the relatively brief semi-structured observations, GEE analyses of the severity and prevalence of RRBs differentiated children with ASD from those with NS and TD across all ages. RRB total scores on the ADOS were stable over time for children with ASD and NS; however, typically developing preschoolers showed lower RRB scores than typically developing toddlers. Nonverbal IQ (NVIQ) was more strongly related to the prevalence of RRBs in older children with PDD-NOS, NS, and TD than younger children under 2 years and those with autism. Item analyses revealed different relationships between individual items and NVIQ, age, diagnosis, and gender. These findings are discussed in terms of their implications for the etiology and treatment of RRBs as well as for the framework of ASD diagnostic criteria in future diagnostic systems.

  16. Research Diagnostic Criteria for Temporomandibular Disorders: Reliability of Axis I Diagnoses and Selected Clinical Measures

    PubMed Central

    Look, John O.; John, Mike T.; Tai, Feng; Huggins, Kimberly H.; Lenton, Patricia A.; Truelove, Edmond L.; Ohrbach, Richard; Anderson, Gary C.; Schiffman, Eric L.

    2011-01-01

    AIM To estimate inter-examiner reliability of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) protocol. METHODS Kappa (k), computed by generalized estimate equation procedures, was selected as the primary estimate of inter-examiner reliability. Intersite reliability of six examiners from 3 study sites was assessed annually over the 5-year period of the RDC/TMD Validation Project. Intrasite reliability was monitored throughout the validation study by comparing RDC/TMD data collections performed on the same day by the test examiner and a criterion examiner. RESULTS Intersite calibrations included a total of 180 subjects. Intersite reliability of RDC/TMD diagnoses was excellent (k > 0.75) when myofascial pain diagnoses (Ia or Ib) were grouped. Good reliability was observed for discrete myofascial pain diagnoses, Ia (k = 0.62) and Ib (k = 0.58), for disc displacement with reduction (k = 0.63), disc displacement without reduction with limited opening (k = 0.62), arthralgia (k = 0.55), and when joint pain (IIIa or IIIb) was grouped (k = 0.59). Reliability of less frequently observed diagnoses such as disc displacements without reduction without limited opening, and osteoarthrosis (IIIb, IIIc), was poor to marginally fair (k = 0.31- 0.43). Intrasite monitoring results (n = 705) approximated well intersite reliability estimates. The greatest difference in paired estimates was 0.18 (IIc). CONCLUSION Reliability of the RDC/TMD protocol was good to excellent for myofascial pain, arthralgia, disc displacement with reduction, and disc displacement without reduction with limited opening. Reliability was poor to marginally fair for disc displacement without reduction without limited opening and osteoarthrosis. PMID:20213029

  17. Diagnostic Validity of the Generalized Anxiety Disorder - 7 (GAD-7) among Pregnant Women

    PubMed Central

    Zhong, Qiu-Yue; Gelaye, Bizu; Zaslavsky, Alan M.; Fann, Jesse R.; Rondon, Marta B.; Sánchez, Sixto E.; Williams, Michelle A.

    2015-01-01

    Objective Generalized anxiety disorder (GAD) during pregnancy is associated with several adverse maternal and perinatal outcomes. A reliable and valid screening tool for GAD should lead to earlier detection and treatment. Among pregnant Peruvian women, a brief screening tool, the GAD-7, has not been validated. This study aims to evaluate the reliability and validity of the GAD-7. Methods Of 2,978 women who attended their first perinatal care visit and had the GAD-7 screening, 946 had a Composite International Diagnostic Interview (CIDI). The Cronbach’s alpha was calculated to examine the reliability. We assessed the criterion validity by calculating operating characteristics. The construct validity was evaluated using factor analysis and association with health status on the CIDI. The cross-cultural validity was explored using the Rasch Rating Scale Model (RSM). Results The reliability of the GAD-7 was good (Cronbach’s alpha = 0.89). A cutoff score of 7 or higher, maximizing the Youden Index, yielded a sensitivity of 73.3% and a specificity of 67.3%. One-factor structure of the GAD-7 was confirmed by exploratory and confirmatory factor analysis. Concurrent validity was supported by the evidence that higher GAD-7 scores were associated with poor self-rated physical and mental health. The Rasch RSM further confirmed the cross-cultural validity of the GAD-7. Conclusion The results suggest that the Spanish-language version of the GAD-7 may be used as a screening tool for pregnant Peruvian women. The GAD-7 has good reliability, factorial validity, and concurrent validity. The optimal cutoff score obtained by maximizing the Youden Index should be considered cautiously; women who screened positive may require further investigation to confirm GAD diagnosis. PMID:25915929

  18. Diagnostic challenges in the evaluation of chronic epilepsy-related surgical neuropathology.

    PubMed

    Prayson, Richard A

    2010-05-01

    For patients with pharmacoresistent epilepsy, surgical excision is often an effective means of controlling and sometimes curing the seizures. Excised tissue frequently provides information regarding the precise etiology of the epilepsy. This review examines some of the more commonly encountered pathologies encountered in the neuropathology arena in this clinical venue. The most common identifiable causes of chronic epilepsy including low-grade tumors, hippocampal sclerosis, malformation of cortical development (cortical dysplasia), and remote infarcts will be discussed. Differential diagnostic difficulties will be examined.

  19. Reliability and Diagnostic Efficiency of the Diagnostic Inventory for Disharmony (DID) in Youths with Pervasive Developmental Disorder and Multiple Complex Developmental Disorder

    ERIC Educational Resources Information Center

    Xavier, Jean; Vannetzel, Leonard; Viaux, Sylvie; Leroy, Arthur; Plaza, Monique; Tordjman, Sylvie; Mille, Christian; Bursztejn, Claude; Cohen, David; Guile, Jean-Marc

    2011-01-01

    The Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) category is a psychopathological entity few have described and is poorly, and mainly negatively, defined by autism exclusion. In order to limit PDD-NOS heterogeneity, alternative clinical constructs have been developed. This study explored the reliability and the diagnostic…

  20. Higher education experiences of students with autism spectrum disorder: challenges, benefits and support needs.

    PubMed

    Van Hees, Valérie; Moyson, Tinneke; Roeyers, Herbert

    2015-06-01

    The transition into higher education constitutes a precarious life stage for students with autism spectrum disorder (ASD). Research on how students with ASD navigate college life is needed for the development of adequate support. This study investigated the challenges and support needs of 23 students with ASD in higher education through semi-structured interviews. Data were analyzed following the principles of Grounded Theory. Students faced difficulties with new situations and unexpected changes, social relationships, problems with information processing and time management and had doubts about disclosure. Facing these challenges simultaneously in the domains of education, student life and daily (independent) living, had a major impact on students' well being. Besides these challenges, students also reported benefits that contributed to success in the three domains. They pointed out to a set of recommendations for support. These findings are linked with previous research and implications for higher education institutions are extrapolated on the basis of these findings.

  1. Challenging situations when teaching children with autism spectrum disorders in general physical education.

    PubMed

    Obrusnikova, Iva; Dillon, Suzanna R

    2011-04-01

    As the first step of an instrument development, teaching challenges that occur when students with autism spectrum disorders are educated in general physical education were elicited using Goldfried and D'Zurilla's (1969) behavioral-analytic model. Data were collected from a convenience sample of 43 certified physical educators (29 women and 14 men) using a demographic questionnaire and an elicitation questionnaire. Participants listed 225 teaching challenges, 46% related to cooperative, 31% to competitive, and 24% to individualistic learning situations. Teaching challenges were categorized into nine themes: inattentive and hyperactive behaviors, social impairment, emotional regulation difficulties, difficulties understanding and performing tasks, narrow focus and inflexible adherence to routines and structure, isolation by classmates, negative effects on classmates' learning, and need for support.

  2. The Effects of Developmental Quotient and Diagnostic Criteria on Challenging Behaviors in Toddlers with Developmental Disabilities

    ERIC Educational Resources Information Center

    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…

  3. Progression of Challenging Behaviors in Children and Adolescents with Autism Spectrum Disorders as Measured by the Autism Spectrum Disorders-Problem Behaviors for Children (ASD-PBC)

    ERIC Educational Resources Information Center

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

    2010-01-01

    This study examined the effect of age on challenging behaviors among 167 children, ages 3-14 years, with Autistic Disorder, Pervasive Developmental Disorder Not Otherwise Specified, or Asperger's syndrome. Results of a MANOVA indicated that there were no significant differences between young children, children, and young adolescents on any of the…

  4. Clinical validation trial of a diagnostic for Ebola Zaire antigen detection: Design rationale and challenges to implementation.

    PubMed

    Schieffelin, John; Moses, Lina M; Shaffer, Jeffrey; Goba, Augustine; Grant, Donald S

    2016-02-01

    The current Ebola outbreak in West Africa has affected more people than all previous outbreaks combined. The current diagnostic method of choice, quantitative polymerase chain reaction, requires specialized conditions as well as specially trained technicians. Insufficient testing capacity has extended the time from sample collection to results. These delays have led to further delays in the transfer and treatment to Ebola Treatment Units. A sensitive and specific point-of-care device that could be used reliably in low-resource settings by healthcare workers with minimal training would increase the efficiency of triage and appropriate transfer of care. This article describes a study designed to validate the sensitivity and specificity of the ReEBOVTM Rapid Diagnostic Test using venous whole blood and capillary blood obtained via fingerprick. We present the scientific and clinical rationale for the decisions made in the design of a diagnostic validation study to be conducted in an outbreak setting. The multi-site strategy greatly complicated implementation. In addition, a decrease in cases in one geographic area along with a concomitant increase in other areas made site selection challenging. Initiation of clinical trials during rapidly evolving outbreaks requires significant cooperation on a national level between research teams implementing studies and clinical care providers. Coordination and streamlining of approval process are essential if trials are to be implemented in a timely fashion.

  5. A challenge for theranostics: is the optimal particle for therapy also optimal for diagnostics?

    NASA Astrophysics Data System (ADS)

    Dreifuss, Tamar; Betzer, Oshra; Shilo, Malka; Popovtzer, Aron; Motiei, Menachem; Popovtzer, Rachela

    2015-09-01

    Theranostics is defined as the combination of therapeutic and diagnostic capabilities in the same agent. Nanotechnology is emerging as an efficient platform for theranostics, since nanoparticle-based contrast agents are powerful tools for enhancing in vivo imaging, while therapeutic nanoparticles may overcome several limitations of conventional drug delivery systems. Theranostic nanoparticles have drawn particular interest in cancer treatment, as they offer significant advantages over both common imaging contrast agents and chemotherapeutic drugs. However, the development of platforms for theranostic applications raises critical questions; is the optimal particle for therapy also the optimal particle for diagnostics? Are the specific characteristics needed to optimize diagnostic imaging parallel to those required for treatment applications? This issue is examined in the present study, by investigating the effect of the gold nanoparticle (GNP) size on tumor uptake and tumor imaging. A series of anti-epidermal growth factor receptor conjugated GNPs of different sizes (diameter range: 20-120 nm) was synthesized, and then their uptake by human squamous cell carcinoma head and neck cancer cells, in vitro and in vivo, as well as their tumor visualization capabilities were evaluated using CT. The results showed that the size of the nanoparticle plays an instrumental role in determining its potential activity in vivo. Interestingly, we found that although the highest tumor uptake was obtained with 20 nm C225-GNPs, the highest contrast enhancement in the tumor was obtained with 50 nm C225-GNPs, thus leading to the conclusion that the optimal particle size for drug delivery is not necessarily optimal for imaging. These findings stress the importance of the investigation and design of optimal nanoparticles for theranostic applications.Theranostics is defined as the combination of therapeutic and diagnostic capabilities in the same agent. Nanotechnology is emerging as an

  6. Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an adult autism spectrum disorder diagnostic clinic.

    PubMed

    Wilson, C Ellie; Gillan, Nicola; Spain, Deborah; Robertson, Dene; Roberts, Gedeon; Murphy, Clodagh M; Maltezos, Stefanos; Zinkstok, Janneke; Johnston, Katie; Dardani, Christina; Ohlsen, Chris; Deeley, P Quinton; Craig, Michael; Mendez, Maria A; Happé, Francesca; Murphy, Declan G M

    2013-11-01

    An Autism Spectrum Disorder (ASD) diagnosis is often used to access services. We investigated whether ASD diagnostic outcome varied when DSM-5 was used compared to ICD-10R and DSM-IV-TR in a clinical sample of 150 intellectually able adults. Of those diagnosed with an ASD using ICD-10R, 56 % met DSM-5 ASD criteria. A further 19 % met DSM-5 (draft) criteria for Social Communication Disorder. Of those diagnosed with Autistic Disorder/Asperger Syndrome on DSM-IV-TR, 78 % met DSM-5 ASD criteria. Sensitivity of DSM-5 was significantly increased by reducing the number of criteria required for a DSM-5 diagnosis, or by rating 'uncertain' criteria as 'present', without sacrificing specificity. Reduced rates of ASD diagnosis may mean some ASD individuals will be unable to access clinical services.

  7. Towards a consensus on diagnostic criteria, measurement and trial design of the premenstrual disorders: the ISPMD Montreal consensus

    PubMed Central

    Bäckström, Torbjorn; Brown, Candace; Dennerstein, Lorraine; Endicott, Jean; Epperson, C. Neill; Eriksson, Elias; Freeman, Ellen; Halbreich, Uriel; Ismail, Khaled M. K.; Panay, Nicholas; Pearlstein, Teri; Rapkin, Andrea; Reid, Robert; Schmidt, Peter; Steiner, Meir; Studd, John; Yonkers, Kimberley

    2014-01-01

    Premenstrual disorders (PMD) are characterised by a cluster of somatic and psychological symptoms of varying severity that occur during the luteal phase of the menstrual cycle and resolve during menses (Freeman and Sondheimer, Prim Care Companion J Clin Psychiatry 5:30–39, 2003; Halbreich, Gynecol Endocrinol 19:320–334, 2004). Although PMD have been widely recognised for many decades, their precise cause is still unknown and there are no definitive, universally accepted diagnostic criteria. To consider this issue, an international multidisciplinary group of experts met at a face-to-face consensus meeting to review current definitions and diagnostic criteria for PMD. This was followed by extensive correspondence. The consensus group formally became established as the International Society for Premenstrual Disorders (ISPMD). The inaugural meeting of the ISPMD was held in Montreal in September 2008. The primary aim was to provide a unified approach for the diagnostic criteria of PMD, their quantification and guidelines on clinical trial design. This report summarises their recommendations. It is hoped that the criteria proposed here will inform discussions of the next edition of the World Health Organisation's International Classification of Diseases (ICD-11), and the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-V) criteria that are currently under consideration. It is also hoped that the proposed definitions and guidelines could be used by all clinicians and investigators to provide a consistent approach to the diagnosis and treatment of PMD and to aid scientific and clinical research in this field. PMID:21225438

  8. Unilateral neuropathic arthropathy of the shoulder secondary to syringomyelia: Diagnostic challenges

    PubMed Central

    Chakraborty, Partha Pratim; Datta, Saumik; Ray, Sayantan; Bhattacharjee, Rana; Chowdhury, Subhankar

    2015-01-01

    Neuropathic arthropathy of the shoulder is a rare disorder characterized by joint degeneration, and is associated with loss of sensory innervation. Syringomyelia is a disease in which fluid-containing cavities (syrinxes) form within the spinal cord. Here, we report a case of neuropathic arthropathy of the shoulder secondary to syringomyelia in a 40-year-old woman. X-rays of the left shoulder revealed damage to bone and joint architecture. Blood tests indicated vitamin D deficiency and secondary hyperparathyroidism. Magnetic resonance imaging of the cervical spine showed a large syrinx from the second cervical spine to the second dorsal spine. Although neuropathic arthropathy is uncommon, it should be considered in cases of unexplained pain, discomfort, or limited range of motion of the affected joint. Symptoms related to the affected joint may precede or overshadow neurological deficits. Appropriate radiological examinations and diagnoses are imperative to prevent misdiagnosis or undetected bone and joint disorders. PMID:26677453

  9. Reliability of the Autism Spectrum Disorder-Diagnostic for Children (ASD-DC)

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Gonzalez, Melissa L.; Wilkins, Jonathan; Rivet, Tessa T.

    2008-01-01

    The reliability of a new scale to assess Autistic Disorder, Pervasive Developmental Disorder, Not Otherwise Specified (PDD-NOS), and Asperger's Disorder in children was examined. Parents or other caregivers rated symptoms of 207 children between 2 and 16 years of age. The scale, which had 40 items in the final version, correlated highly with…

  10. A trans-diagnostic review of anxiety disorder comorbidity and the impact of multiple exclusion criteria on studying clinical outcomes in anxiety disorders.

    PubMed

    Goldstein-Piekarski, A N; Williams, L M; Humphreys, K

    2016-06-28

    Anxiety disorders are highly comorbid with each other and with other serious mental disorders. As our field progresses, we have the opportunity to pursue treatment study designs that consider these comorbidities. In this perspective review, we first characterized the prevalence of multiple anxiety disorder comorbidity by reanalyzing national survey data, then conducted an English-language PubMed search of studies analyzing the impact of exclusion criteria on treatment outcome data. In the prevalence data, 60% of people with an anxiety disorder had one or more additional anxiety or depression diagnosis. Because our commonly applied exclusion criteria focus on a single diagnosis and do not consider a multiple comorbidity profile, the impact of the criteria may be to exclude up to 92% of anxiety disorder treatment seekers. Moreover, the findings do not suggest a consistent relationship between the number of exclusion criteria and the effect size of treatment outcomes. Thus, future studies might consider a more trans-diagnostic rationale for determining exclusion criteria, one that is generalizable to real-world settings in which multiple diagnoses commonly co-occur. The findings also encourage a more systematic reporting of rationales for the choice of-and the implications of-each exclusion criterion.

  11. A trans-diagnostic review of anxiety disorder comorbidity and the impact of multiple exclusion criteria on studying clinical outcomes in anxiety disorders

    PubMed Central

    Goldstein-Piekarski, A N; Williams, L M; Humphreys, K

    2016-01-01

    Anxiety disorders are highly comorbid with each other and with other serious mental disorders. As our field progresses, we have the opportunity to pursue treatment study designs that consider these comorbidities. In this perspective review, we first characterized the prevalence of multiple anxiety disorder comorbidity by reanalyzing national survey data, then conducted an English-language PubMed search of studies analyzing the impact of exclusion criteria on treatment outcome data. In the prevalence data, 60% of people with an anxiety disorder had one or more additional anxiety or depression diagnosis. Because our commonly applied exclusion criteria focus on a single diagnosis and do not consider a multiple comorbidity profile, the impact of the criteria may be to exclude up to 92% of anxiety disorder treatment seekers. Moreover, the findings do not suggest a consistent relationship between the number of exclusion criteria and the effect size of treatment outcomes. Thus, future studies might consider a more trans-diagnostic rationale for determining exclusion criteria, one that is generalizable to real-world settings in which multiple diagnoses commonly co-occur. The findings also encourage a more systematic reporting of rationales for the choice of—and the implications of—each exclusion criterion. PMID:27351601

  12. Characteristics of stereotypic movement disorder and self-injurious behavior assessed with the Diagnostic Assessment for the Severely Handicapped (DASH-II).

    PubMed

    Matson, J L; Hamilton, M; Duncan, D; Bamburg, J; Smiroldo, B; Anderson, S; Baglio, C

    1997-01-01

    The first experiment involved 143 individuals with severe and profound mental retardation. Individuals with Stereotypic Movement Disorder, Self-Injurious Behavior (SIB), and Stereotypic movement disorder with self-injurious behavior as assessed by the Diagnostic Assessment for the Severely Handicapped-II DASH-II were validated against Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV; American Psychiatric Association, 1994) criteria. In a second study DASH-II scores for 1480 individuals with severe and profound mental retardation were compared on demographic variables, core and associated features of each disorder. Characteristics of persons in each group were reviewed. Persons with profound mental retardation were more likely to evince stereotypies or self-injury compared to their severely impaired counterparts. Also, those with stereotypies were more likely to present with Pervasive Developmental Disorder (PDD)/autism, organicity, and eating disorders, while persons with SIB were more likely to evince sleep, sexual, and eating disorders.

  13. Gut microbiota and attention deficit hyperactivity disorder: new perspectives for a challenging condition.

    PubMed

    Cenit, María Carmen; Nuevo, Isabel Campillo; Codoñer-Franch, Pilar; Dinan, Timothy G; Sanz, Yolanda

    2017-03-13

    A bidirectional communication between the gut and the brain (gut-brain axis) is well recognized with the gut microbiota viewed as a key regulator of this cross-talk. Currently, a body of preclinical and to a lesser extent epidemiological evidence supports the notion that host-microbe interactions play a key role in brain development and function and in the etiology of neurodevelopmental disorders. Early life events and shifts away from traditional lifestyles are known to impact gut microbiota composition and function and, thereby, may increase the risk of developing neurodevelopmental disorders. Attention deficit hyperactivity disorder (ADHD) is nowadays the most prevalent neurodevelopmental disorder. Despite many years of research its etiology is unclear and its diagnosis and treatment are still challenging. Different factors reported to be associated with the risk of developing ADHD and/or linked to different ADHD manifestations have also been linked to shifts in gut microbiota composition, suggesting a link between the microbiota and the disorder. Evidence from preliminary human studies also suggests that dietary components that modulate gut microbiota may also influence ADHD development or symptoms, although further studies are warranted to confirm this hypothesis. Here, we firstly review the potential mechanisms by which the gut microbiota may regulate the brain-gut axis and influence behavior and neurodevelopmental disorders. Secondly, we discuss the current knowledge about the different factors and dietary components reported to be associated with the risk of developing ADHD or its manifestations and with shifts in gut microbiota composition. Finally, we briefly highlight the need to progress our understanding regarding the role of the gut microbiota in ADHD, since this could open new avenues for early intervention and improved management of the disease.

  14. Computer-aided diagnosis of diagnostically challenging lesions in breast MRI: a comparison between a radiomics and a feature-selective approach

    NASA Astrophysics Data System (ADS)

    Hoffmann, Sebastian; Lobbes, Marc; Houben, Ivo; Pinker-Domenig, Katja; Wengert, Georg; Burgeth, Bernhard; Meyer-Bäse, Uwe; Lemaitre, Guillaume; Meyer-Baese, Anke

    2016-05-01

    Diagnostically challenging lesions pose a challenge both for the radiological reading and also for current CAD systems. They are not well-defined in both morphology (geometric shape) and kinetics (temporal enhancement) and pose a problem to lesion detection and classification. Their strong phenotypic differences can be visualized by MRI. Radiomics represents a novel approach to achieve a detailed quantification of the tumour phenotypes by analyzing a large number of image descriptors. In this paper, we apply a quantitative radiomics approach based on shape, texture and kinetics tumor features and evaluate it in comparison to a reduced-order feature approach in a computer-aided diagnosis system applied to diagnostically challenging lesions.

  15. The Diagnostic Accuracy of Screening Tools to Detect Eating Disorders in Female Athletes.

    PubMed

    Wagner, Alyssa J; Erickson, Casey D; Tierney, Dayna K; Houston, Megan N; Bacon, Cailee E Welch

    2016-12-01

    Clinical Scenario: Eating disorders in female athletes are a commonly underdiagnosed condition. Better screening tools for eating disorders in athletic females could help increase diagnosis and help athletes get the treatment they need. Focused Clinical Question: Should screening tools be used to detect eating disorders in female athletes? Summary of Key Findings: The literature was searched for studies that included information regarding the sensitivity and specificity of screening tools for eating disorders in female athletes. The search returned 5 possible articles related to the clinical question; 3 studies met the inclusion criteria (2 cross-sectional studies, 1 cohort study) and were included. All 3 studies reported sensitivity and specificity for the Athletic Milieu Direct Questionnaire version 2, the Brief Eating Disorder in Athletes Questionnaire version 2, and the Physiologic Screening Test to Detect Eating Disorders Among Female Athletes. All 3 studies found that the respective screening tool was able to accurately identify female athletes with eating disorders; however, the screening tools varied in sensitivity and specificity values. Clinical Bottom Line: There is strong evidence to support the use of screening tools to detect eating disorders in female athletes. Screening tools with higher sensitivity and specificity have demonstrated a successful outcome of determining athletes with eating disorders or at risk for developing an eating disorder. Strength of Recommendation: There is grade A evidence available to demonstrate that screening tools accurately detect female athletes at risk for eating disorders.

  16. Stem cells in neuroinjury and neurodegenerative disorders: challenges and future neurotherapeutic prospects.

    PubMed

    Mouhieddine, Tarek H; Kobeissy, Firas H; Itani, Muhieddine; Nokkari, Amaly; Wang, Kevin K W

    2014-05-01

    The prevalence of neurodegenerative diseases and neural injury disorders is increasing worldwide. Research is now focusing on improving current neurogenesis techniques including neural stem cell therapy and other biochemical drug-based approaches to ameliorate these disorders. Unfortunately, we are still facing many obstacles that are rendering current neurotherapies ineffective in clinical trials for reasons that are yet to be discovered. That is why we should start by fully understanding the complex mechanisms of neurogenesis and the factors that affect it, or else, all our suggested therapies would fail since they would not be targeting the essence of the neurological disorder but rather the symptoms. One possible paradigm shift is to switch from neuroprotectant therapies towards neurodegeneration/neurorestorative approaches. In addition, other and our laboratories are increasingly focusing on combining the use of pharmacological agents (such as Rho-associated kinase (ROCK) inhibitors or other growth factors (such as brain-derived neurotrophic factor (BDNF)) and stem cell treatment to enhance the survivability and/or differentiation capacity of transplanted stem cells in neurotrauma or other neurodegeneration animal models. Ongoing stem cell research is surely on the verge of a breakthrough of multiple effective therapeutic options for neurodegenerative disorders. Once, we fully comprehend the process of neurogenesis and its components, we will fully be capable of manipulating and utilizing it. In this work, we discuss the current knowledge of neuroregenerative therapies and their associated challenges.

  17. Solitary tubercular caecal ulcer causing massive lower gastrointestinal bleed: a formidable diagnostic challenge.

    PubMed

    Ram, Duvuru; Karthikeyan, Vilvapathy Senguttuvan; Sistla, Sarath Chandra; Ali, Sheik Manwar

    2014-03-06

    Gastrointestinal (GI) haemorrhage is a common surgical emergency accounting for approximately 1% of acute hospital admissions. Lower GI bleed is less common and less severe than upper GI bleed and is usually caused by diverticulosis, neoplasms, angiodysplasia and inflammatory bowel disease. A 51-year-old man presented with massive lower GI bleed. He had no history of tuberculosis. He underwent colonoscopy and an isolated caecal ulcer was noted. Segmental ileocaecal resection was performed and no specific cause was identifiable on histopathology. PCR was performed on this specimen and it was positive for Mycobacterium tuberculosis. This case reports the unusual presentation of tuberculosis as solitary caecal ulcer with massive lower GI bleed and highlights the role of PCR as an adjuvant diagnostic tool for its diagnosis when characteristic histopathological findings are absent.

  18. Diagnostic challenges of tuberculous lymphadenitis using polymerase chain reaction analysis: a case study.

    PubMed

    Taniguchi, Hirokazu; Nakamura, Masahiko; Shimokawa, Kazuki; Kamiseki, Fumi; Ishizawa, Shin; Abo, Hitoshi; Furuse, Hideaki; Tsuda, Takeshi; Masaki, Yasuaki; Suzuki, Kensuke

    2015-01-01

    This report presents a case of tuberculous lymphadenitis that was difficult to diagnose using polymerase chain reaction analysis. An 80-year-old Japanese female was hospitalized due to swollen cervical lymph nodes. Her lymph node tests revealed paradoxical polymerase chain reaction results. Polymerase chain reaction analysis of two biopsy tissues using the Cobas TaqMan revealed a positive result for Mycobacterium avium and a negative result for Mycobacterium tuberculosis. However, polymerase chain reaction analysis of a cultured colony of acid-fast bacteria from biopsy tissue using the Cobas TaqMan and an alternative polymerase chain reaction analysis of biopsy tissue yielded discordant results. The patient was diagnosed as having tuberculous lymphadenitis. She was treated with antitubercular drugs and subsequently had a reduction in cervical lymph node swelling. Polymerase chain reaction analysis is not 100% accurate; hence, its use as a diagnostic tool for mycobacterial infection requires increased attention.

  19. [Mild head injury in children and adults: Diagnostic challenges in the emergency department].

    PubMed

    Leidel, B A; Lindner, T; Wolf, S; Bogner, V; Steinbeck, A; Börner, N; Peiser, C; Audebert, H J; Biberthaler, P; Kanz, K-G

    2015-06-01

    Mild head injuries are one of the most frequent reasons for attending emergency departments and are particularly challenging in different ways. While clinically important injuries are infrequent, delayed or missed injuries may lead to fatal consequences. The initial mostly inconspicuous appearance may not reflect the degree of intracranial injury and computed tomography (CT) is necessary to rule out covert injuries. Furthermore, infants and young children with a lack of or rudimentary cognitive and language development are challenging, especially for those examiners not familiar with pediatric care. Established check lists of clinical risk factors for children and adults regarding traumatic brain injuries allow specific and rational decision-making for cranial CT imaging. Clinically important intracranial injuries can be reliably detected and unnecessary radiation exposure avoided at the same time.

  20. INTEGRATIVE BORDERLINE ADOLESCENT FAMILY THERAPY: MEETING THE CHALLENGES OF TREATING ADOLESCENTS WITH BORDERLINE PERSONALITY DISORDER

    PubMed Central

    SANTISTEBAN, DANIEL A.; MUIR, JOAN A.; MENA, MAITE P.; MITRANI, VICTORIA B.

    2014-01-01

    With the growing acceptance of the borderline personality disorder diagnosis for adolescents has come a need for specialized treatments for this challenging population. Further, because of the prominence of the family system during early and later adolescence, family treatments are particularly needed. The purpose of this article is to present the integrative borderline adolescent family therapy (I-BAFT) model that emerged from a National Institute on Drug Abuse–funded (Stage 1) treatment development and enhancement effort. I-BAFT integrates (a) key interventions from the family treatment of adolescent drug abuse (D. A. Santisteban et al., 2003; J. Szapocznik & W. Kurtines, 1989), (b) skills training shown effective with adults with borderline personality disorder (M. Linehan, 1993a) and adapted for adolescents, and (c) individual treatment interventions that promote motivation for treatment and enhance the integration of the 3 treatment components. PMID:25663719

  1. Dental health - a challenging problem for a patient with autism spectrum disorder.

    PubMed

    Lu, Yuan-Yuan; Wei, I-Hua; Huang, Chih-Chia

    2013-01-01

    Patients with autism spectrum disorders (ASDs) are at an increased risk for many diseases. However, little has been published about the dental health of patients with ASDs. Here, we describe the clinical presentations in a 28-year-old woman with autistic disorder. The most striking finding was the severe dental problems which had been neglected for several years. Our patient exhibited a combination of several factors that may have increased the risk of development of severe dental problem. The early recognition is still challenging to managing this unusual condition in patients with ASDs. From the experience of caring for this patient, a team of parents or caregivers, psychiatrist and dentist should be involved in maintaining oral health care of such patients with early intervention and long-term follow-up. Evidence-based behavioral management approaches for patients with ASD need to be developed to improve compliance with oral care procedures.

  2. [A serious challenge for youth protection services: intervening with parents suffering from borderline personality disorder (BPD)].

    PubMed

    Laporte, Lise

    2007-01-01

    An exploratory survey of 68 youth protection services' workers in Montréal, who followed 1,030 children reveals that 39 % of these children have at least one parent who suffer from mental health problems. Among these parents, 48 % of mothers and 30 % of fathers have a personality disorder, and for the majority, a borderline personality disorder. This mental health problem is preoccupying for youth protection workers because of its high prevalence, its impact on children and case workers and the difficulties brought forth by having to intervene in a context of authority and within an organization not adapted to the management of this mental health problem. Some intervention's guidelines to work with these parents are presented as well as some challenges and future perspectives.

  3. A free terminal ileal perforation from active crohn disease in pregnancy: a diagnostic challenge.

    PubMed

    Philip, Sunu; Kamyab, Armin; Orfanou, Paraskevi

    2015-03-01

    The surgical management of the complications of Crohn disease is often challenging. These difficulties are compounded in pregnancy by competing interests of the mother and the baby. In this report, we describe the presentation and surgical management of a patient in her second trimester with active Crohn disease who required emergent surgical intervention. She had presented with the uncommon complication of a free perforation in the presence of active untreated disease.

  4. Dysthymic Disorder

    PubMed Central

    Sansone, Lori A.

    2009-01-01

    This ongoing column is dedicated to the challenging clinical interface between psychiatry and primary care—two fields that are inexorably linked. Dysthymic disorder is a smoldering mood disturbance characterized by a long duration (at least two years in adults) as well as transient periods of normal mood. The disorder is fairly common in the US general population (3–6%) as well as in primary care (7%) and mental health settings (up to one-third of psychiatric outpatients). While the etiology of dysthymia remains unknown, there appears to be a genetic susceptibility, which may manifest in the presence of various psychosocial stressors. While the Diagnostic and Statistical Manual of Mental Disorders diagnostic criteria are fairly clear, the disorder can be easily under-recognized for a variety of reasons. Treatment may include pharmacotherapy and psychotherapy, although the overall treatment course is oftentimes characterized by protracted symptoms and relapses. PMID:19724735

  5. Isospora belli superinfection in a patient with eosinophilic gastroenteritis--a diagnostic challenge.

    PubMed

    Navaneethan, Udayakumar; Venkatesh, Preethi G K; Downs-Kelly, Erinn; Shen, Bo

    2012-03-01

    Isospora belli infection, characterized by peripheral blood eosinophilia, is often seen as an opportunistic infection in patients with acquired immunodeficiency syndrome (AIDS). It is also reported in patients with underlying lymphoproliferative disorders including lymphoma and leukemia. Eosinophil-associated gastrointestinal disorders (EGID), including eosinophilic gastroenteritis (EGE), is characterized by eosinophilic infiltration of the gastrointestinal (GI) tract with various GI symptoms. We report a case of a 50-year-old male who developed Isospora superinfection of the small bowel while receiving systemic corticosteroids for EGE. He presented with worsening diarrhea, abdominal pain, nausea and vomiting with worsening peripheral eosinophilia. I. belli infection was diagnosed by the detection of oocysts in stool samples and by the presence of the parasite on duodenal biopsy in the background of tissue eosinophilia. I. belli can cause severe chronic diarrhea in immunocompromised patients on corticosteroids. Trimethoprim-sulfamethoxazole often provided rapid cure. Even though peripheral blood eosinophilia was seen in both EGE and Isospora infection, the identification of subnuclear protozoal inclusions as a new histologic finding, as well as the absence of this finding in previous duodenal biopsies coupled with the continued presence of tissue eosinophilia, favored a parasitic superinfection in the setting of underlying EGE.

  6. Moderating Effects of Challenging Behaviors and Communication Deficits on Social Skills in Children Diagnosed with an Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Hess, Julie A.; Mahan, Sara

    2013-01-01

    One-hundred nine children 3-16 years of age diagnosed with Autistic Disorder, Pervasive Developmental Disorder Not Otherwise Specified, or Asperger's Syndrome were studied. Children resided in six states in the United States. Using moderation analysis via multiple regression, verbal communication and challenging behaviors and how they interact…

  7. Virtual human as a new diagnostic tool, a proof of concept study in the field of major depressive disorders

    PubMed Central

    Philip, Pierre; Micoulaud-Franchi, Jean-Arthur; Sagaspe, Patricia; Sevin, Etienne De; Olive, Jérôme; Bioulac, Stéphanie; Sauteraud, Alain

    2017-01-01

    Embodied Conversational Agents (ECAs) are promising software to communicate with patients but no study has tested them in the diagnostic field of mental disorders. The aim of this study was 1) to test the performance of a diagnostic system for major depressive disorders (MDD), based on the identification by an ECA of specific symptoms (the MDD DSM 5 criteria) in outpatients; 2) to evaluate the acceptability of such an ECA. Patients completed two clinical interviews in a randomized order (ECA versus psychiatrist) and filled in the Acceptability E-scale (AES) to quantify the acceptability of the ECA. 179 outpatients were included in this study (mean age 46.5 ± 12.9 years, 57.5% females). Among the 35 patients diagnosed with MDD by the psychiatrist, 14 (40%) patients exhibited mild, 12 (34.3%) moderate and 9 (25.7%) severe depressive symptoms. Sensitivity increased across the severity level of depressive symptoms and reached 73% for patients with severe depressive symptoms, while specificity remained above 95% for all three severity levels. The acceptability of the ECA evaluated by the AES was very good (25.4). We demonstrate here the validity and acceptability of an ECA to diagnose major depressive disorders. ECAs are promising tools to conduct standardized and well-accepted clinical interviews. PMID:28205601

  8. Measurement and Analysis of Olfactory Responses with the Aim of Establishing an Objective Diagnostic Method for Central Olfactory Disorders

    NASA Astrophysics Data System (ADS)

    Uno, Tominori; Wang, Li-Qun; Miwakeichi, Fumikazu; Tonoike, Mitsuo; Kaneda, Teruo

    In order to establish a new diagnostic method for central olfactory disorders and to identify objective indicators, we measured and analyzed brain activities in the parahippocampal gyrus and uncus, region of responsibility for central olfactory disorders. The relationship between olfactory stimulation and brain response at region of responsibility can be examined in terms of fitted responses (FR). FR in these regions may be individual indicators of changes in brain olfactory responses. In the present study, in order to non-invasively and objectively measure olfactory responses, an odor oddball task was conducted on four healthy volunteers using functional magnetic resonance imaging (fMRI) and a odorant stimulator with blast-method. The results showed favorable FR and activation in the parahippocampal gyrus or uncus in all subjects. In some subjects, both the parahippocampal gyrus and uncus were activated. Furthermore, activation was also confirmed in the cingulate gyrus, middle frontal gyrus, precentral gyrus, postcentral gyrus, superior temporal gyrus and insula. The hippocampus and uncus are known to be involved in the olfactory disorders associated with early-stage Alzheimer's disease and other olfactory disorders. In the future, it will be necessary to further develop the present measurement and analysis method to clarify the relationship between central olfactory disorders and brain activities and establish objective indicators that are useful for diagnosis.

  9. A Comparison of DSM-IV-TR and DSM-5 Diagnostic Classifications in the Clinical Diagnosis of Autistic Spectrum Disorder.

    PubMed

    Yaylaci, Ferhat; Miral, Suha

    2017-01-01

    Aim of this study was to compare children diagnosed with Pervasive Developmental Disorder (PDD) according to DSM-IV-TR and DSM-5 diagnostic systems. One hundred fifty children aged between 3 and 15 years diagnosed with PDD by DSM-IV-TR were included. PDD symptoms were reviewed through psychiatric assessment based on DSM-IV-TR and DSM-5 criteria. Clinical severity was determined using Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC). A statistically significant decrease (19.3 %) was detected in the diagnostic ratio with DSM-5. Age and symptom severity differed significantly between those who were and were not diagnosed with PDD using DSM-5. B4 criteria in DSM-5 was most common criterion. Results indicate that individuals diagnosed with PDD by DSM-IV-TR criteria may not be diagnosed using DSM-5 criteria.

  10. A distinct language and a historic pendulum: the evolution of the Diagnostic and Statistical Manual of Mental Disorders.

    PubMed

    Sanders, James L

    2011-12-01

    Historically, the Diagnostic and Statistical Manual of Mental Disorders (DSM) has met an important need in defining a common language of psychiatric diagnosis in North America. Understanding the development of the DSM can help researchers and practitioners better understand this diagnostic language. The history of the DSM, from its precursors to recent proposed revisions for its fifth edition, is reviewed and compared while avoiding the presentist bias. The development of DSM resembles a historic pendulum, from DSM-I emphasizing psychodynamics and causality to DSM-III and DSM-IV emphasizing empiricism and logical positivism. The proposed changes in etiological- and dimensional-based classification for DSM-V represent a slight backswing toward the center.

  11. Spontaneous oesophageal rupture: a diagnostic challenge in resource-limited setting.

    PubMed

    Shao, Elichilia R; Joseph, Pantaleo M; Slootweg, Piet; Mkwizu, Elifuraha W; Kilonzo, Kajiru G; Mwasamwaja, Amos O

    2015-08-01

    Spontaneous oesophageal rupture after swallowing a bolus of food is a very rare condition. In resource-limited settings, it is very challenging to diagnose this condition especially when its presentation is atypical. Its prognosis is very poor when diagnosis is delayed due to risk of mediastinitis. We report a case of 37-year-old man who was admitted to our hospital complaining of sudden onset of chest tightness and pain after a meal 8 h prior to admission. Urgent chest radiograph revealed right hydropneumothorax with collapsed lung. Water-seal drainage was established gushing 1200 ml of food materials. Definitive diagnosis of oesophageal rupture was reached after post-mortem.

  12. Fatal cases of Chikungunya virus infection in Colombia: Diagnostic and treatment challenges.

    PubMed

    Hoz, Juan M de la; Bayona, Brayan; Viloria, Samir; Accini, José L; Juan-Vergara, Homero San; Viasus, Diego

    2015-08-01

    Although Chikungunya infection is emerging as an important public health problem in many countries, it is not regarded as a life-threatening disease. Information dealing with fatal cases is scarce. We herein describe three patients with Chickungunya infection who presented with multiple organ failure and died within 24h of admission. Two cases had positive anti-dengue IgM, but dengue coinfection was rejected based on the clinical features and results of real-time reverse transcription polymerase chain reaction. These cases illustrate the challenges of the diagnosis and management of severe Chikungunya infection.

  13. Kimura's disease: A diagnostic challenge experienced with cytology of postauricular swelling with histopathological relevance

    PubMed Central

    Sherpa, Mingma; Lamichaney, Rachna; Roy, Asitava Deb

    2016-01-01

    Kimura's disease is a rare, chronic inflammatory disorder of unknown cause. It is endemic in Asia, affecting more number of males than females, with a ratio of 3:1. The typical clinical manifestations include a triad of painless unilateral cervical lymphadenopathy or subcutaneous masses predominantly in the head and neck region, blood and tissue eosinophilia, and an elevated serum immunoglobulin E (IgE) levels. Variable conditions both benign and malignant may mimic Kimura's disease both clinically and on fine needle aspirates. The confirmatory diagnosis is established only by histopathological examination. We report a case of Kimura's disease in a patient who underwent multiple investigations in view of her past history and family history of pulmonary Koch's. Fine needle aspiration cytology (FNAC) was performed thrice with consistently similar result of reactive lymphadenitis with numerous histiocytes and eosinophilia. The final diagnosis of Kimura's disease could finally be established only on histopathological examination. PMID:28028342

  14. Evaluation of the Criterion and Convergent Validity of the Diagnostic Interview for Social and Communication Disorders in Young and Low-Functioning Children

    ERIC Educational Resources Information Center

    Maljaars, Jarymke; Noens, Ilse; Scholte, Evert; van Berckelaer-Onnes, Ina

    2012-01-01

    The Diagnostic Interview for Social and Communication Disorders (DISCO; Wing, 2006) is a standardized, semi-structured and interviewer-based schedule for diagnosis of autism spectrum disorder (ASD). The objective of this study was to evaluate the criterion and convergent validity of the DISCO-11 ICD-10 algorithm in young and low-functioning…

  15. The Relationship between Waiting Times and "Adherence" to the Scottish Intercollegiate Guidelines Network 98 Guideline in Autism Spectrum Disorder Diagnostic Services in Scotland

    ERIC Educational Resources Information Center

    McKenzie, Karen; Forsyth, Kirsty; O'Hare, Anne; McClure, Iain; Rutherford, Marion; Murray, Aja; Irvine, Linda

    2016-01-01

    The aim of this study was to explore the extent to which the Scottish Intercollegiate Guidelines Network 98 guidelines on the assessment and diagnosis of autism spectrum disorder were adhered to in child autism spectrum disorder diagnostic services in Scotland and whether there was a significant relationship between routine practice which more…

  16. [Tick-borne rickettsioses in the Americas: clinical and epidemiological advances, and diagnostic challenges].

    PubMed

    Hidalgo, Marylin; Faccini-Martínez, Álvaro A; Valbuena, Gustavo

    2013-09-01

    Rickettsioses are a group of zoonotic diseases caused by strict intracellular bacteria of the genus Rickettsia and Orientia which belong to the Rickettsiaceae family. Their ecology is influenced by environmental factors and the presence of specific vectors that determine the establishment and epidemiology in different world regions. In America, during the 20 th century, only three of these diseases were recognized: Rocky Mountain spotted fever, epidemic typhus and endemic typhus. However, since 2000, more than 10 different species that had previously been unknown in this continent have been described, both in arthropods and in clinical cases, fact that classifies them as emerging and re-emerging diseases. Given the clinical manifestations of the diseases caused by rickettsias, being the majority unspecific and, therefore, shared with other infectious diseases, especially viral and bacterial, they have been framed within the differential diagnoses of acute febrile syndrome in urban and tropical areas. Nowadays, there are direct and indirect diagnostic methods, which are useful in the definition of the infectious agent, in this case, the cause of rickettsioses.

  17. Guillain-Barré in a 10-month-old: diagnostic challenges in a pediatric emergency.

    PubMed

    Orlik, Kseniya; Griffin, Gregory D

    2014-01-01

    A 10-month-old male infant presented to the emergency department (ED) with a chief complaint of weakness, decreased mobility, and regression of motor milestones over a period of 6 days. Significant medical history included a Roseola infection 5 weeks before ED presentation. The patient's pediatrician and chiropractor had both previously diagnosed the patient with strains and sprains. After progression of symptoms, the patient presented to the ED and was discharged home to follow up as an outpatient. The patient subsequently returned to the ED and was admitted to neurology with concern for Guillain-Barré syndrome, which was later confirmed after inpatient workup. The patient was successfully treated and released. Guillain-Barré represents a spectrum of acute immune mediated polyneuropathies. There are several variant forms provoked by infection that precedes the onset of symptoms. Diagnosis and management of Guillain-Barré in the ED will be reviewed, along with the importance of early pediatric intensive care involvement for children presenting with signs of flaccid quadriparesis; rapidly progressive weakness; impending respiratory failure; bulbar palsy; and, most importantly, autonomic cardiovascular instability. Guillain-Barré is rare in children younger than 2 years; however, it must be considered in the differential diagnosis of any patient who presents with progressive weakness and history of a recent infection. It is important to recognize the variety and severity of neurologic symptoms associated with Guillain-Barré across a spectrum, especially with the diagnostic difficulties associated with the pediatric population.

  18. Substance Abusers in an Acute Psychiatric Facility: A Diagnostic and Logistic Challenge

    PubMed Central

    Berg, John E.; Restan, Asbjørn

    2013-01-01

    Acute resident psychiatric facilities in Norway usually get their patients after referral from a medical doctor. Acute psychiatric wards are the only places accepting persons in need of emergency hospitalisation when emergency units in somatic hospitals do not accept the patient. Resident patients at one random chosen day were scrutinized in an acute psychiatric facility with 36 beds serving a catchment area of 165 000. Twenty-five patients were resident in the facility at that particular day. Eight of 25 resident patients (32.0%) in the acute wards were referred for a substance-induced psychosis (SIP). Another patient may also have had a SIP, but the differential diagnostic work was not finished. A main primary diagnosis of substance use was given in the medical reports in only 12.9% of patients during the last year. Given that the chosen day was representative of the year, a majority of patients with substance abuse problems were given other diagnoses. There seems to be a reluctance to declare the primary reason for an acute stay in a third of resident stays. Lack of specialized emergency detoxification facilities may have contributed to the results. PMID:23738222

  19. Operational challenges in delivering CD4 diagnostics in sub-Saharan Africa.

    PubMed

    Thairu, L; Katzenstein, D; Israelski, D

    2011-07-01

    Access to reliable and low cost CD4 T-cell enumeration to stage illness and monitor anti-retroviral therapy remains elusive in resource-limited settings. We report challenges in delivering CD4 testing using the microcapillary Fluorescence-Activated Cell Sorter (FACS) methodology (Guava EasyCD4 instrument Guava Technologies, Hayward) in Burkina Faso and Zimbabwe. Resources, instruments, reagents, and training were provided to local laboratories within the existing infrastructure and data on CD4 were collected from routine laboratory testing. Challenges encountered included frequent instrument breakdown; poor manufacturer maintenance; difficulties in managing reagent stocks; high technician turnover; reliance on antiquated data management systems; redundant service provision; and lack of repeat testing in male HIV+ patients and in patients with higher CD4 counts after initial staging. While adopting newer, less expensive technologies such as fluorescent platforms and point of care tests can facilitate access to lower cost CD4 testing, our experience suggests that supply chain, corporate commitment to implementation, and community factors also require consideration.

  20. OBSESSIVE–COMPULSIVE DISORDER: A REVIEW OF THE DIAGNOSTIC CRITERIA AND POSSIBLE SUBTYPES AND DIMENSIONAL SPECIFIERS FOR DSM-V

    PubMed Central

    Leckman, James F.; Denys, Damiaan; Simpson, H. Blair; Mataix-Cols, David; Hollander, Eric; Saxena, Sanjaya; Miguel, Euripedes C.; Rauch, Scott L.; Goodman, Wayne K.; Phillips, Katharine A.; Stein, Dan J.

    2014-01-01

    Background Since the publication of the DSM-IV in 1994, research on obsessive–compulsive disorder (OCD) has continued to expand. It is timely to reconsider the nosology of this disorder, assessing whether changes to diagnostic criteria as well as subtypes and specifiers may improve diagnostic validity and clinical utility. Methods The existing criteria were evaluated. Key issues were identified. Electronic databases of PubMed, ScienceDirect, and PsycINFO were searched for relevant studies. Results This review presents a number of options and preliminary recommendations to be considered for DSM-V. These include: (1) clarifying and simplifying the definition of obsessions and compulsions(criterion A); (2) possibly deleting the requirement that people recognize that their obsessions or compulsions are excessive or unreasonable (criterion B); (3) rethinking the clinical significance criterion (criterion C) and, in the interim, possibly adjusting what is considered “time-consuming” for OCD; (4) listing additional disorders to help with the differential diagnosis (criterion D); (5) rethinking the medical exclusion criterion (criterion E) and clarifying what is meant by a “general medical condition”; (6) revising the specifiers (i.e., clarifying that OCD can involve a range of insight, in addition to “poor insight,” and adding “tic-related OCD”); and (7) highlighting in the DSM-V text important clinical features of OCD that are not currently mentioned in the criteria (e.g., the major symptom dimensions). Conclusions A number of changes to the existing diagnostic criteria for OCD are proposed. These proposed criteria may change as the DSM-V process progresses. PMID:20217853

  1. The role of radiology in diagnosis and management of drug mules: an update with new challenges and new diagnostic tools.

    PubMed

    Bulakci, Mesut; Cengel, Ferhat

    2016-01-01

    Emergency physicians and radiologists have been increasingly encountering internal concealment of illegal drugs. The packages commonly contain powdered solid drugs such as cocaine, heroin, methamphetamine and hashish, but they may also contain cocaine in the liquid form. The second type of package has recently been more commonly encountered, and poses a greater diagnostic challenge. As clinical evaluation and laboratory tests frequently fail to make the correct diagnosis, imaging examination is typically required. Imaging methods assume a vital role in the diagnosis, follow-up and management. Abdominal X-ray, ultrasonography, CT and MRI are used for the imaging purposes. Among the aforementioned methods, low-dose CT is state-of-the-art in these cases. It is of paramount importance that radiologists have a full knowledge of the imaging characteristics of these packages and accurately guide physicians and security officials.

  2. The role of radiology in diagnosis and management of drug mules: an update with new challenges and new diagnostic tools

    PubMed Central

    Cengel, Ferhat

    2016-01-01

    Emergency physicians and radiologists have been increasingly encountering internal concealment of illegal drugs. The packages commonly contain powdered solid drugs such as cocaine, heroin, methamphetamine and hashish, but they may also contain cocaine in the liquid form. The second type of package has recently been more commonly encountered, and poses a greater diagnostic challenge. As clinical evaluation and laboratory tests frequently fail to make the correct diagnosis, imaging examination is typically required. Imaging methods assume a vital role in the diagnosis, follow-up and management. Abdominal X-ray, ultrasonography, CT and MRI are used for the imaging purposes. Among the aforementioned methods, low-dose CT is state-of-the-art in these cases. It is of paramount importance that radiologists have a full knowledge of the imaging characteristics of these packages and accurately guide physicians and security officials. PMID:26867003

  3. Long-standing chin-augmenting costochondral graft creating a diagnostic challenge: A case report and literature review

    PubMed Central

    Mintline, Mark; Ruprecht, Axel; Cohen, Donald; Blumberg, Barton R.; Nair, Madhu K.

    2016-01-01

    To our knowledge, the imaging features of costochondral grafts (CCGs) on cone-beam computed tomography (CBCT) have not been documented in the literature. We present the case of a CCG in the facial soft tissue to the anterior mandible, with changes mimicking a cartilaginous neoplasm. This is the first report to describe the CBCT imaging features of a long-standing graft in the anterior mandible. Implants or grafts may be incidental findings on radiographic images made for unrelated purposes. Although most are well-defined and radiographically homogeneous, being of relatively inert non-biological material, immune reactions to some grafts may stimulate alterations in the appearance of surrounding tissues. Biological implants may undergo growth and differentiation, causing their appearance to mimic neoplastic lesions. We present the case of a cosmetic autogenous CCG that posed a diagnostic challenge both radiographically and histopathologically. PMID:28035307

  4. School-Based Interventions Targeting Challenging Behaviors Exhibited by Young Children with Autism Spectrum Disorder: A Systematic Literature Review

    ERIC Educational Resources Information Center

    Martinez, Jose R.; Werch, Brittany L.; Conroy, Maureen A.

    2016-01-01

    The purpose of this review was to critically examine and summarize the impact of school-based interventions designed to decrease challenging behaviors in young children with Autism Spectrum Disorder (ASD). Reviewed studies employed a single-case experimental design, targeted challenging behaviors, included children 3-8 years old with ASD, and took…

  5. Clinical Validation Trial of a Diagnostic for Ebola Zaire Antigen Detection: Design Rationale and Challenges to Implementation

    PubMed Central

    Schieffelin, John; Moses, Lina M; Shaffer, Jeffrey; Goba, Augustine; Grant, Donald S

    2015-01-01

    The current Ebola outbreak in West Africa has affected more people than all previous outbreaks combined. The current diagnostic method of choice, quantitative polymerase chain reaction, requires specialized conditions as well as specially trained technicians. Insufficient testing capacity has extended the time from sample collection to results. These delays have led to further delays in the transfer and treatment to Ebola Treatment Units. A sensitive and specific point-of-care device that could be used reliably in low resource settings by healthcare workers with minimal training would increase the efficiency of triage and appropriate transfer of care. This article describes a study designed to validate the sensitivity and specificity of the ReEBOVTM RDT using venous whole blood and capillary blood obtained via fingerprick. We present the scientific and clinical rationale for the decisions made in the design of a diagnostic validation study to be conducted in an outbreak setting. The multi-site strategy greatly complicated implementation. In addition, a decrease in cases in one geographic area along with a concomitant increase in other areas made site selection challenging. Initiation of clinical trials during rapidly evolving outbreaks requires significant cooperation on a national level between research teams implementing studies and clinical care providers. Coordination and streamlining of approval process is essential if trials are to be implemented in a timely fashion. PMID:26768566

  6. Challenges in the diagnosis and treatment of depression in autism spectrum disorders across the lifespan

    PubMed Central

    Chandrasekhar, Tara; Sikich, Linmarie

    2015-01-01

    Diagnosis and treatment of comorbid neuropsychiatric illness is often a secondary focus of treatment in individuals with autism spectrum disorder (ASD), given that substantial impairment may be caused by core symptoms of ASD itself. However, psychiatric comorbidities, including depressive disorders, are common and frequently result in additional functional impairment, treatment costs, and burden on caregivers. Clinicians may struggle to appropriately diagnose depression in ASD due to communication deficits, atypical presentation of depression in ASD, and lack of standardized diagnostic tools. Specific risk and resilience factors for depression in ASD across the lifespan, including level of functioning, age, family history, and coping style, have been suggested, but require further study. Treatment with medications or psychotherapy may be beneficial, though more research is required to establish guidelines for management of symptoms. This review will describe typical presentations of depression in individuals with ASD, review current information on the prevalence, assessment, and treatment of comorbid depression in individuals with ASD, and identify important research gaps. PMID:26246795

  7. Multiple chronic disorders - health care system’s modern challenge in the Maccabi Health Care System

    PubMed Central

    2014-01-01

    Background One of the major challenges health care systems face in modern time is treating chronic disorders. In recent years, the increasing occurrence of multiple chronic disorders (MCC) in single individuals has compounded the complexity of health care. In 2008, it was estimated that worldwide as many as one quarter of the population between the ages of sixty five to sixty nine suffered from two or more chronic conditions and this prevalence rose with age. Clinical guidelines provide guidance for management of single disorders, but not for MCC. The aim of the present study was the study of the prevalence, distribution and impact of MCC in a large Israeli health system. Methods We performed a cross-sectional study of MCC in the Maccabi Healthcare System (MHS), Israel’s second largest healthcare service, providing care for approximately two million people. Data regarding chronic conditions was collected through electronic medical records and organizational records, as was demographic and socioeconomic data. Age and sex specific data were compared with previously published data from Scotland. Results Two thirds of the population had two or more chronic disorders. This is significantly higher than previously published rates. A correlation between patient age and number of chronic disorders was found, as was a correlation between number of chronic disorders and low socioeconomic status, with the exception of children due to a high prevalence of learning disabilities, asthma, and visual disturbances. Discussion MCC is very prevalent in the MHS population, increases with age, and except for children is more prevalent in lower socioeconomic classes, possibly due to the a combination of the structure of the Israeli universal insurance and requirements of the ministry of education for exemptions and benefits. A higher than previously reported prevalence of MCC may be due to the longtime use of use of integrated electronic medical records. Conclusions To effectively deal

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

    ERIC Educational Resources Information Center

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

    2011-01-01

    Evidence supports the role of temperament in the origins of psychiatric disorders. However, there are few data on associations between temperament and psychiatric disorders in early childhood. A community sample of 541 three-year-old preschoolers participated in a laboratory temperament assessment, and caregivers were administered a structured…

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

    ERIC Educational Resources Information Center

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

    2016-01-01

    Changes to the DSM-5 Autism Spectrum Disorder (ASD) criteria raised concerns among parents and practitioners that the criteria may exclude some children with Pervasive Developmental Disorder (PDD). Few studies have examined DSM-5 sensitivity and specificity in children less than 5 years of age. This study evaluated 185 children aged 20-55 months…

  10. A Diagnostic Toolbox for Integrated Management of Apple Postharvest Necrotic Disorders

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Apple postharvest physiological disorders, characterized by peel or flesh necrosis, result in significant yearly financial losses. Unfortunately, current chemical and cultural control systems are lacking or provide little assurance that apples will not develop disorders in storage or elsewhere in th...

  11. Acute triventricular hydrocephalus caused by choroid plexus cysts: a diagnostic and neurosurgical challenge.

    PubMed

    Spennato, Pietro; Chiaramonte, Carmela; Cicala, Domenico; Donofrio, Vittoria; Barbarisi, Manlio; Nastro, Anna; Mirone, Giuseppe; Trischitta, Vincenzo; Cinalli, Giuseppe

    2016-11-01

    OBJECTIVE Intraventricular choroid plexus cysts are unusual causes of acute hydrocephalus in children. Radiological diagnosis of intraventricular choroid plexus cysts is difficult because they have very thin walls and fluid contents similar to CSF and can go undetected on routine CT studies. METHODS This study reports the authors' experience with 5 patients affected by intraventricular cysts originating from the choroid plexus. All patients experienced acute presentation with rapid neurological deterioration, sometimes associated with hypothalamic dysfunction, and required urgent surgery. In 2 cases the symptoms were intermittent, with spontaneous remission and sudden clinical deteriorations, reflecting an intermittent obstruction of the CSF pathway. RESULTS Radiological diagnosis was difficult in these cases because a nonenhanced CT scan revealed only triventricular hydrocephalus, with slight lateral ventricle asymmetry in all cases. MRI with driven-equilibrium sequences and CT ventriculography (in 1 case) allowed the authors to accurately diagnose the intraventricular cysts that typically occupied the posterior part of the third ventricle, occluding the aqueduct and at least 1 foramen of Monro. The patients were managed by urgent implantation of an external ventricular drain in 1 case (followed by endoscopic surgery, after completing a diagnostic workup) and by urgent endoscopic surgery in 4 cases. Endoscopic surgery allowed the shrinkage and near-complete removal of the cysts in all cases. Use of neuronavigation and a laser were indispensable. All procedures were uneventful, resulting in restoration of normal neurological conditions. Long-term follow-up (> 2 years) was available for 2 patients, and no complications or recurrences occurred. CONCLUSIONS This case series emphasizes the necessity of an accurate and precise identification of the possible causes of triventricular hydrocephalus. Endoscopic surgery can be considered the ideal treatment of choroid plexus

  12. Spontaneous oesophageal rupture: a diagnostic challenge in resource-limited setting

    PubMed Central

    Shao, Elichilia R.; Joseph, Pantaleo M.; Slootweg, Piet; Mkwizu, Elifuraha W.; Kilonzo, Kajiru G.; Mwasamwaja, Amos O.

    2015-01-01

    Spontaneous oesophageal rupture after swallowing a bolus of food is a very rare condition. In resource-limited settings, it is very challenging to diagnose this condition especially when its presentation is atypical. Its prognosis is very poor when diagnosis is delayed due to risk of mediastinitis. We report a case of 37-year-old man who was admitted to our hospital complaining of sudden onset of chest tightness and pain after a meal 8 h prior to admission. Urgent chest radiograph revealed right hydropneumothorax with collapsed lung. Water-seal drainage was established gushing 1200 ml of food materials. Definitive diagnosis of oesophageal rupture was reached after post-mortem. PMID:26421158

  13. The Interdisciplinary Council on Developmental and Learning Disorders Diagnostic Manual for Infants and Young Children – An Overview

    PubMed Central

    Greenspan, Stanley I.; Wieder, Serena

    2008-01-01

    Objective To describe the Interdisciplinary Council on Developmental and Learning Disorders Diagnostic Manual for Infants and Young Children (ICDL-DMIC) created by representatives of the Interdisciplinary Council on Developmental and Learning Disorders. Method A description of the rationale of the different sections of the ICDL-DMIC dealing with infants and young children, focusing on a classification system which integrates all components of development and functioning which have been traditionally addressed by different disciplines. Results A description of an in-depth approach to mental health diagnosis for infants and young children that goes beyond simply a description of symptoms and captures the qualities of the individual. Conclusion The ICDL-DMIC presents an innovative approach to the assessment and diagnosis of infants and young children and their families, featuring a multi-dimensional classification system which uniquely considers the emerging functional emotional developmental capacities of the infant and young child and the developmental pathway to symptom patterns. PMID:18516310

  14. Gender-related differential item functioning in DSM-IV/DSM-5-III (alternative model) diagnostic criteria for borderline personality disorder.

    PubMed

    Benson, Kathryn T; Donnellan, M Brent; Morey, Leslie C

    2017-01-01

    A number of studies have evaluated the possibility of bias in the diagnostic criteria in borderline personality disorder as an explanation of gender differences in prevalence. Previous studies have used both regression and latent trait approaches but the results have been inconsistent. The current study extended prior investigations in testing differential function of Borderline diagnostic criteria using both regression and latent-trait methods in the same sample, examining both Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV) and DSM-5 alternative model criteria for borderline personality. Data were obtained from a national sample of 337 clinicians providing diagnostic information on 1 of their target patients. Chronic feelings of emptiness was the only criterion that demonstrated consistent evidence of potential differential functioning across methods and diagnostic models. Implications of these results for the conceptualization of borderline personality are discussed. (PsycINFO Database Record

  15. Disordered gambling as defined by the Diagnostic and Statistical Manual of Mental Disorders and the South Oaks Gambling Screen: evidence for a common etiologic structure.

    PubMed

    Slutske, Wendy S; Zhu, Gu; Meier, Madeline H; Martin, Nicholas G

    2011-08-01

    In a previous article, we demonstrated in a large twin study that disordered gambling (DG), as defined by the Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV), ran in families, that about half of the variation in liability for DG was due to familial factors, and that all of this was explained by shared genetic rather than shared environmental influences (Slutske, Zhu, Meier, & Martin, 2010). The purpose of the present study is to extend this work to include an alternative conceptualization of DG that is provided by the South Oaks Gambling Screen (SOGS) item set in order to (a) compare the magnitude of the familial resemblance obtained when using the two definitions of DG (based on the DSM-IV and the SOGS), (b) examine the extent to which the 2 definitions tap the same underlying sources of genetic and environmental variation, and (c) examine whether the same results will be obtained among men and women. The results of bivariate twin model-fitting analyses suggested that DG, as defined by the DSM-IV and the SOGS, substantially overlapped at the etiologic level among both men and women, which supports the construct validity of both the DSM and the SOGS conceptualizations of DG. This study highlights the utility of twin studies for appraising the validity of the diagnostic nomenclature.

  16. [Coexistent depressive and anxiety disorders in epilepsy and multiple sclerosis: a challenge to neuropsychiatric practice].

    PubMed

    Kapfhammer, Hans-Peter

    2014-01-01

    The high rate of co-existent emotional disorders in major neurological disorders, such as epilepsy and multiple sclerosis is challenging. As a rule, this co-existence comprises a more dramatic subjective suffering, a reduced psychological coping, possible negative interferences with somatic treatments and rehabilitations, an impaired quality of life and higher grades of psychosocial disability. It may also lead to an overall increased risk of somatic morbidity and even mortality in the further course of illness. These complex interrelations may be favourably integrated within a biopsychosocial model. Psychological and psychosocial stressors can be appreciated on their own discrete levels, have to be reflected, however, in their neurobiological correlates. Both neurological and emotional disorders frequently share decisive pathogenetic mechanisms, i.e. the underlying process of neurological disease may contribute to major affective problems also in a somato-psychic direction. In addition, mutual interactions of both neurological and psychiatric treatments in their impact on the emotional and neurological risks have to be appreciated.

  17. Epigenetics of Posttraumatic Stress Disorder: Current Evidence, Challenges, and Future Directions.

    PubMed

    Zannas, Anthony S; Provençal, Nadine; Binder, Elisabeth B

    2015-09-01

    Posttraumatic stress disorder (PTSD) is a stress-related psychiatric disorder that is thought to emerge from complex interactions among traumatic events and multiple genetic factors. Epigenetic regulation lies at the heart of these interactions and mediates the lasting effects of the environment on gene regulation. An increasing body of evidence in human subjects with PTSD supports a role for epigenetic regulation of distinct genes and pathways in the pathogenesis of PTSD. The role of epigenetic regulation is further supported by studies examining fear conditioning in rodent models. Although this line of research offers an exciting outlook for future epigenetic research in PTSD, important limitations include the tissue specificity of epigenetic modifications, the phenomenologic definition of the disorder, and the challenge of translating molecular evidence across species. These limitations call for studies that combine data from postmortem human brain tissue and animal models, assess longitudinal epigenetic changes in living subjects, and examine dimensional phenotypes in addition to diagnoses. Moreover, examining the environmental, genetic, and epigenetic factors that promote resilience to trauma may lead to important advances in the field.

  18. Media hype, diagnostic fad or genuine disorder? Professionals' opinions about night eating syndrome, orthorexia, muscle dysmorphia, and emetophobia.

    PubMed

    Vandereycken, Walter

    2011-01-01

    Many "new" syndromes have been proposed for inclusion in the DSM-V. Some disorders acquired popularity through the Internet, but will they be taken seriously and get accepted by the scientific community? We organized an opinion poll among professionals in the field of eating disorders by presenting them a provisional set of diagnostic criteria of four "new" disorders: Night Eating Syndrome, Orthorexia, Muscle Dysmorphia, and Emetophobia. In general, the opinions did not differ much according to the characteristics of the 111 respondents. Among these professionals, Orthorexia is the best known and Night Eating Syndrome the least. Although the majority is familiar with the concept of Muscle Dysmorphia, it is most often viewed as a creation of the popular media and rarely observed in daily practice. In contrast, the other three disorders seem to be taken more seriously in the sense of "genuine" syndromes, which should receive more attention in research and clinical practice. Emetophobia appears to be the least "fashionable" of the four. The findings are discussed in the light of medialization and medicalization.

  19. Examining vulnerability to smokeless tobacco use among adolescents and adults meeting diagnostic criteria for major depressive disorder.

    PubMed

    Redner, Ryan; White, Thomas J; Harder, Valerie S; Higgins, Stephen T

    2014-08-01

    Smoking prevalence is unevenly distributed in the U.S. population, with those with mental illness, other substance use disorders, and lower socioeconomic status being especially vulnerable. Less research has been conducted on the association between these same vulnerabilities and smokeless tobacco (ST) use. The present study examined cigarette and ST use among adolescents and adults who met diagnostic criteria for major depressive disorder in the National Survey on Drug Use and Health (NSDUH). Utilizing the most recent (2011) NSDUH, we compared odds for current cigarette smoking and ST use among adolescents and adults meeting criteria for past-year major depressive disorder to the general population, after adjusting for potential confounding influences of sociodemographic and other substance use characteristics. Analyses were conducted to examine sex as a moderator of the relation between major depressive disorder and tobacco use. Odds for current cigarette smoking among those classified with major depressive disorder were increased among adolescents (OR = 1.33, 95% CI [1.05, 1.69], p = .021) and adults (OR = 1.70, 95% CI [1.47, 1.97], p < .0005), and odds for current ST use did not differ among adolescents (OR = 0.90, 95% CI [0.54, 1.49], p = .678) and were lower among adults (OR = 0.68, 95% CI [0.51, 0.91], p = .010). Sex was not a significant moderator in adolescents or adults. Major depressive disorder is associated with increased risk for smoking but not ST use among adolescents and adults further demonstrating heterogeneity in predictors of vulnerability to use of different tobacco products.

  20. Mastocytosis: the puzzling clinical spectrum and challenging diagnostic aspects of an enigmatic disease.

    PubMed

    Gülen, T; Hägglund, H; Dahlén, B; Nilsson, G

    2016-03-01

    Mastocytosis is a complex disorder characterized by the accumulation of abnormal mast cells (MC) in the skin, bone marrow and/or other visceral organs. The clinical manifestations result from MC-derived mediators and, less frequently, from destructive infiltration of MCs. Patients suffer from a variety of symptoms including pruritus, flushing and life-threatening anaphylaxis. Whilst mastocytosis is likely to be suspected in a patient with typical skin lesions [i.e. urticaria pigmentosa (UP)], the absence of cutaneous signs does not rule out the diagnosis of this disease. Mastocytosis should be suspected in cases of recurrent, unexplained or severe insect-induced anaphylaxis or symptoms of MC degranulation without true allergy. In rare cases, unexplained osteoporosis or unexplained haematological abnormalities can be underlying feature of mastocytosis, particularly when these conditions are associated with elevated baseline serum tryptase levels. The diagnosis is based on the World Health Organization criteria, in which the tryptase level, histopathological and immunophenotypic evaluation of MCs and molecular analysis are crucial. A somatic KIT mutation, the most common of which is D816V, is usually detectable in MCs and their progenitors. Once a diagnosis of systemic mastocytosis (SM) is made, it is mandatory to assess the burden of the disease, its activity, subtype and prognosis, and the appropriate therapy. Mastocytosis comprises seven different categories that range from indolent forms, such as cutaneous and indolent SM, to progressive forms, such as aggressive SM and MC leukaemia. Although prognosis is good in patients with indolent forms of the disease, patients with advanced categories have a poor prognosis.