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Sample records for disorder diagnostic challenges

  1. Diagnostic challenges in alcohol use disorder and alcoholic liver disease

    PubMed Central

    Vonghia, Luisa; Michielsen, Peter; Dom, Geert; Francque, Sven

    2014-01-01

    Alcohol use disorders represent a heterogeneous spectrum of clinical manifestations that have been defined by the Diagnostic and Statistical Manual of Mental Disorders-5. Excessive alcohol intake can lead to damage of various organs, including the liver. Alcoholic liver disease includes different injuries ranging from steatosis to cirrhosis and implicates a diagnostic assessment of the liver disease and of its possible complications. There is growing interest in the possible different tools for assessing previous alcohol consumption and for establishing the severity of liver injury, especially by non-invasive methods. PMID:25009373

  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. PMID:20691590

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

    PubMed

    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

  5. [Schizoaffective disorder: An arguable diagnostic entity].

    PubMed

    Garyfallos, G D

    2008-07-01

    Seventy-five years ago, J. Kasanin introduced the term "schizoaffective disorder" to refer to a disorder with symptoms of both schizophrenia and affective disorders. Since then, schizoaffective disorder has raised a considerable amount of discussion about its definition and position as a variant of schizophrenia, a variant of mood disorder or as an entity in between. This ambiguity is reflected on the definition of diagnostic criteria of the disorder in the taxonomic systems, which are practically too complex. Furthermore, there are essential differences between DSM-IV and ICD-10 regarding schizoaffective definition. Finally, the disorder has a very low inter-rater reliability and a very low longitudinal diagnostic stability. All the above have even led to proposals of elimination of schizoaffective disorder as a separate diagnostic entity. The prevalence of the disorder varies between 0.3% and 0.8%. Schizoaf fective disorder is more common in women than in men, a dif ference that is mostly attributed to increased incidence among women of the depressive type. The bipolar type of the disorder is more often found in young adults, whereas the depressive type is commoner in older adults. With regards to other variables such as educational level, marital status, prognosis, occupational level and social adjustment, schizoaffective disorder has more favourable characteristics than schizophrenia and less favourable than mood disorders. Age at onset is earlier than mood disorders and later than schizophrenia. The above epidemiologic and clinical data, as well as data from family, twin, genetic and neuroimaging studies, indicate that schizoaffective disorder can be best viewed as a mid-point on a continuum between schizophrenia and mood disorders and represents the most prominent paradigm challenging the so-called "Kraepelinian dichotomy" of major psychiatric disorders. Though schizoaffective disorder is a nosological nuisance, it is also a clinical reality and it is not

  6. Molecular diagnostics of neurodegenerative disorders

    PubMed Central

    Agrawal, Megha; Biswas, Abhijit

    2015-01-01

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

  7. Eosinophilic ascites: a diagnostic challenge.

    PubMed

    Khalil, Hesham; Joseph, Moby

    2016-01-01

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

  8. Tuberculosis diagnostics: Challenges and opportunities.

    PubMed

    Nema, Vijay

    2012-07-01

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

  9. 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. PMID:22448626

  10. Obturator hernia: A diagnostic challenge

    PubMed Central

    Tokushima, Midori; Aihara, Hidetoshi; Tago, Masaki; Tomonaga, Motosuke; Sakanishi, Yuta; Yoshioka, Tsuneaki; Hyakutake, Masaki; Kyoraku, Itaru; Sugioka, Takashi; Yamashita, Shu-ichi

    2014-01-01

    Patient: Female, 90 Final Diagnosis: Obturator hernia Symptoms: Epigastric pain • vomiting Medication: — Clinical Procedure: — Specialty: Gastroenterology and Hepatology Objective: Challenging differential diagnosis Background: Obturator hernia (OH) can be difficult to diagnose because it shows only nonspecific signs and symptoms. Although pain in a lower limb caused by compression of the obturator nerve by the hernia in the obturator canal (Howship-Romberg sign) is a characteristic sign, its presence is rather rare. Case Report: We herein describe the case of a 90-year-old woman with an OH that was difficult to diagnose because of her slight abdominal signs and symptoms on admission and subtle abdominal computed tomography (CT) findings. Although the CT images revealed the presence of an OH, this finding was overlooked because it contained only a part of the small intestine wall, which is called the Richter type. Fortunately, her condition improved dramatically with only conservative treatment. Conclusions: Although early diagnosis is essential to reduce morbidity and mortality, OH can be a diagnostic challenge even with abdominal CT. PMID:25006359

  11. The Sleepy Teenager – Diagnostic Challenges

    PubMed Central

    Landtblom, Anne-Marie; Engström, Maria

    2014-01-01

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

  12. Herbicide poisoning: A diagnostic challenge

    PubMed Central

    Ghosh, Supradip; Singh, Amandeep; Dewan, Himanshu; Walia, Gunwant; Bansal, Abhishek

    2012-01-01

    Despite widespread availability, reports of herbicide poisoning from India are not common. Diagnosis is often difficult in the absence of proper history, non-specific clinical features and lack of diagnostic tests. A case of Paraquat poisoning is reported where diagnosis could be established only after the recovery of the patient. The literature is reviewed. PMID:22557836

  13. 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

  14. 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

  15. Lipedema: diagnostic and management challenges.

    PubMed

    Warren Peled, Anne; Kappos, Elisabeth A

    2016-01-01

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

  16. Systemic mastocytosis - a diagnostic challenge.

    PubMed

    Lladó, Ana Cristina Amorim Oliveira Gaia; Mihon, Claudia Elena; Silva, Madalena; Galzerano, Antonio

    2014-01-01

    Mastocytosis refers to a group of disorders characterized by the infiltration of clonally derived mast cells to the skin or extracutaneous tissues resulting in a heterogeneous clinical picture. It is a rare hematologic disorder in all its forms. The exact incidence is unknown; it affects patients of any age and males and females equally. Its molecular pathogenesis is incompletely understood. The clinical features of mastocytosis result from both chronic and episodic mast cell mediator release, signs and symptoms arising from diffuse or focal tissue infiltration, and, occasionally, the presence of an associated non-mast cell clonal hematologic disease. The histopathologic analysis is essential for definitive diagnosis but there is no curative treatment. The authors report a clinical case of a 72-year-old woman with no history of allergies, with bicytopenia, weight loss, and diffuse axial osteolytic lesions. This is a rare clinical case of aggressive systemic mastocytosis for which palliative treatment can improve survival and quality of life. A brief review of the literature about this pathology is also included. PMID:25031064

  17. Scrotodynia: Diagnostic and Therapeutic Challenge.

    PubMed

    Hosthota, Abhineetha; Bondade, Swapna; Monnappa, Divya; Basavaraja, Vinay

    2016-01-01

    Case 1 A 35-year-old married man presented with diffuse burning of the scrotum for 6 months' duration that was aggravated by sitting and wearing tight-fitting undergarments. He reported a history of sexual exposure 6 months prior, after which the complaint started. Clinical examination of the scrotal skin, testis, epididymis, penis, and perianal area did not reveal any abnormality. Rectal examination was performed to rule out chronic proctitis. Investigations were performed to exclude sexually transmitted infections. Ultrasonography of the abdomen and pelvis was ordered to rule out organic cause. The patient experienced guilt from the exposure because he was married, and therefore was referred to the psychiatrist to rule out psychological problems. A diagnosis of major depressive disorder was made. He was started on amitriptyline 25 mg and was gradually increased to 50 mg. The patient showed gradual improvement in symptoms after 3 weeks of follow-up. PMID:27502268

  18. 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. PMID:26888190

  19. 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

  20. Diagnostic challenges in the older patient

    PubMed Central

    2012-01-01

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

  1. Autistic spectrum disorder: diagnostic difficulties.

    PubMed

    Jones, G S

    2000-01-01

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

  2. Congenital Diarrheal Disorders: An Updated Diagnostic Approach

    PubMed Central

    Terrin, Gianluca; Tomaiuolo, Rossella; Passariello, Annalisa; Elce, Ausilia; Amato, Felice; Di Costanzo, Margherita; Castaldo, Giuseppe; Canani, Roberto Berni

    2012-01-01

    Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up. PMID:22605972

  3. [Diagnostic challenges of aneurysmal subarachnoid hemorrhage].

    PubMed

    Vehviläinen, Juho; Niemelä, Mika; Korja, Miikka

    2016-01-01

    Diagostic approach to aneurysmal subarachnoid hemorrhage (aSAH) is based on computer tomography (CT) imaging, although a lumbar puncture and subsequent cerebrospinal fluid analysis is sometimes necessary. Identification of the ruptured aneurysm is done using angiography. Despite of modern imaging techniques, diagnostic definition of aSAH is still occasionally challenging. We describe three cases in which the diagnosis of aSAH has been delayed, in spite of positive imaging or lumbar puncture findings. PMID:27089620

  4. FERMI longitudinal diagnostics: results and future challenges

    NASA Astrophysics Data System (ADS)

    Veronese, Marco; Ferrari, E.; Allaria, E.; Cinquegrana, P.; Froelich, L.; Giannessi, L.; Penco, G.; Predonzani, M.; Rossi, F.; Sigalotti, P.; Ferianis, M.

    2015-05-01

    The seeded FEL FERMI has completed the commissioning of both the FEL lines, and it is now providing the user community with a coherent and tunable UV radiation (from 100 nm to 4 nm) in a number of different configurations. These also include original FEL-pump - FEL-probe schemes with twin-seeded FEL pulses. Among the key systems for the operation of FERMI, there is the femtosecond optical timing system and dedicated longitudinal diagnostics, specifically developed for FERMI. In this paper, after a short review of the FERMI optical timing system and of its routinely achieved performances, we focus on the results obtained from the suite of longitudinal diagnostics (Bunch Arrival Monitor, Electro Optical sampling station and RF deflectors) all operating in single shot and with 10s fs resolution which demonstrate the FERMI achieved performances. The longitudinal diagnostics measurements are compared between these device and other device on shot-to-shot basis, looking for correlations between machine parameters. Finally future challenges in terms of improvement of existing diagnostics, planned installations and possible upgrades are discussed.

  5. Hydatid Cyst of Spleen: A Diagnostic Challenge

    PubMed Central

    Rasheed, Khalid; Zargar, Showkat Ali; Telwani, Ajaz Ahmed

    2013-01-01

    Although splenic involvement alone in hydatid disease is very rare, spleen is the third most common organ involved in hydatid disease. The rarity of splenic hydatid disease poses a diagnostic challenge for clinicians, particularly in non-endemic areas. As the hydatid cyst can present as a simple cyst without having the classic serological and imaging features, and later can lead to life-threatening complications like anaphylaxis, hydatid disease of spleen should be considered in differential in every patient in endemic areas with cystic lesion of spleen until proved otherwise. The author used the keyword “splenic hydatid cyst” in PubMed and reviewed the scientific literatures published from January 1965 to June 2012. The present review is to accentuate the incidence, classification, clinical and pathophysiological features, differential diagnosis, diagnostic modalities, and treatment choices of hydatid cyst of spleen along with follow-up strategy and newer treatment approaches. PMID:23378949

  6. Congenital lobar emphysema: diagnostic and therapeutic challenges.

    PubMed

    Mulvany, James Jackson; Weatherall, Andrew; Charlton, Amanda; Selvadurai, Hiran

    2016-01-01

    Congenital lobar emphysema (CLE), a rare condition that usually presents in the neonatal period, can be a diagnostic and therapeutic challenge for the treating clinician. If unrecognised, it is a significant risk at the time of anaesthetic induction. We describe a case of CLE in a 3-month-old boy who was initially treated for suspected aspiration pneumonia at the referring hospital. We highlight the importance of careful consideration of common childhood respiratory illness as well as pneumothorax in the differential diagnosis, and the significance of appropriate preoperative anaesthetic management. We also emphasise the importance of acknowledging a mother's concerns when taking a paediatric history. PMID:27335360

  7. Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias

    PubMed Central

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

    2013-01-01

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

  8. Diagnostic challenges in acromioclavicular septic arthritis.

    PubMed

    Williams, Mark

    2016-01-01

    A 69-year-old man with Klinefelter's syndrome presented with a painful shoulder and staphylococcal sepsis. He received intravenous antibiotics while investigations were performed to locate the source of infection. MRI demonstrated infection in the acromioclavicular joint (ACJ). The patient clinically improved and a further 5 weeks of oral antibiotics were given. He remained asymptomatic at 2-year follow-up. Although ACJ septic arthritis is rare, independent of immune-competent status, a high index of suspicion is essential for prompt diagnosis. The condition presents additional diagnostic challenges due to unfamiliarity, the challenges of interpreting imaging, desire for radiological guided arthrocentesis and low volume aspirates. Overcoming these pitfalls is essential to avoid significant morbidity and mortality. PMID:27257000

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

    PubMed

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

    2015-03-01

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

  10. Postpartum Tuberculosis: A Diagnostic and Therapeutic Challenge

    PubMed Central

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

    2016-01-01

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

  11. Postpartum Tuberculosis: A Diagnostic and Therapeutic Challenge.

    PubMed

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

    2016-01-01

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

  12. Bipolar disorder diagnosis: challenges and future directions.

    PubMed

    Phillips, Mary L; Kupfer, David J

    2013-05-11

    Bipolar disorder refers to a group of affective disorders, which together are characterised by depressive and manic or hypomanic episodes. These disorders include: bipolar disorder type I (depressive and manic episodes: this disorder can be diagnosed on the basis of one manic episode); bipolar disorder type II (depressive and hypomanic episodes); cyclothymic disorder (hypomanic and depressive symptoms that do not meet criteria for depressive episodes); and bipolar disorder not otherwise specified (depressive and hypomanic-like symptoms that do not meet the diagnostic criteria for any of the aforementioned disorders). Bipolar disorder type II is especially difficult to diagnose accurately because of the difficulty in differentiation of this disorder from recurrent unipolar depression (recurrent depressive episodes) in depressed patients. The identification of objective biomarkers that represent pathophysiologic processes that differ between bipolar disorder and unipolar depression can both inform bipolar disorder diagnosis and provide biological targets for the development of new and personalised treatments. Neuroimaging studies could help the identification of biomarkers that differentiate bipolar disorder from unipolar depression, but the problem in detection of a clear boundary between these disorders suggests that they might be better represented as a continuum of affective disorders. Innovative combinations of neuroimaging and pattern recognition approaches can identify individual patterns of neural structure and function that accurately ascertain where a patient might lie on a behavioural scale. Ultimately, an integrative approach, with several biological measurements using different scales, could yield patterns of biomarkers (biosignatures) to help identify biological targets for personalised and new treatments for all affective disorders. PMID:23663952

  13. 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

  14. 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.…

  15. Diagnostic oral food challenges: procedures and biomarkers.

    PubMed

    Järvinen, Kirsi M; Sicherer, Scott H

    2012-09-28

    Oral food challenge (OFC) is the gold standard for the diagnosis of food allergy. They are conducted to confirm whether an allergy to food exists (initial challenge) or to monitor for resolution of a food allergy. The history of an immediate allergic reaction, when supported by positive tests for specific IgE antibodies to the suspect food, is often sufficient to establish a diagnosis without OFC. Additionally, higher concentrations of food-specific IgE or larger allergy prick skin test wheal sizes correlate with an increased likelihood of a reaction upon ingestion. Although these food-specific IgE tests are helpful biomarkers of allergy, their limited sensitivity and specificity often necessitates the use of OFC to establish reactivity. Furthermore, the pathogenesis of non-IgE-mediated food allergy, such as food protein-induced enterocolitis (FPIES) or proctocolitis and food allergy due to mixed IgE and non-IgE mediated processes, such as atopic dermatitis or eosinophilic gastroenteropathies may not be assessable with specific IgE tests, also warranting OFCs. This review provides an overview on the technique and interpretation of OFCs, use of food-specific testing to predict whether OFC is warranted and to predict OFC outcomes. Additionally, biomarkers that correlate with OFC outcomes will be discussed, as well as future diagnostic tests promising better predictive value. PMID:22414488

  16. Pulmonary hypertension: diagnostic and therapeutic challenges.

    PubMed

    Bazan, Isabel S; Fares, Wassim H

    2015-01-01

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

  17. 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

  18. Childhood sleep disorders: diagnostic and therapeutic approaches.

    PubMed

    Pearl, Phillip L

    2002-03-01

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

  19. Predominant Palmoplantar Lichen Planus: A Diagnostic Challenge

    PubMed Central

    Gutte, Rameshwar; Khopkar, Uday

    2014-01-01

    Background: Palmoplantar lesions in lichen planus (LP) are uncommon. In such cases, diagnosis is usually missed. This study was conducted to document various clinical and histopathological features of palmoplantar LP. Materials And Methods: A total of 18 patients from our outpatient department with lesions of LP, either predominantly or exclusively on palms and/or soles were studied. Patients with history of drug intake in recent past and patients with classical acute widespread LP with a few lesions on palms or soles were excluded. In each patient, diagnosis was made on clinicopathological correlation. Various clinical and histopathological features were analyzed. Results: Average age of onset was 38 years. Male: female ratio was 1:0.6 and average disease duration was 11 months. Exclusive palm or sole involvement was seen in 4/18 patients. Itching was the most common symptom. Clinically the most common variant was hypertrophic. Histologically presence of parakeratosis, spongiosis, lack of melanophages, and lack of hypergranulosis in some cases was seen in addition to classical features of LP. In 3 out of 4 patients with exclusive palmoplantar involvement diagnosis of LP was missed clinically. Conclusion: Involvement of palms and soles in LP poses a diagnostic challenge due to variable presentations. Histopathology is of vital importance for correct diagnosis and treatment. PMID:25071250

  20. Forme Fruste of HLH (haemophagocytic lymphohistiocytosis): diagnostic and therapeutic challenges.

    PubMed

    Inoue, Susumu; Mangat, Chetna; Rafe'e, Yaseen; Sharman, Mahesh

    2015-01-01

    Infants and young children often present with a persistent febrile episode, sick appearance and negative infectious disease work-up. These patients present serious diagnostic and therapeutic problems to those who provide medical care, particularly since these children are clinically sick. We present a 13 month old child who presented with this clinical challenge. She was ultimately thought to have an incomplete form of HLH with underlying pathophysiology of hypercytokinemia, but also could have been a case of incomplete form of Kawasaki disease. She responded to IVIG, but this does not differentiate one diagnosis from another. Unfortunately we failed to obtain tests to exclude genetic etiologies of HLH, which would be important for predicting severity and risks of future recurrence. We wish to present this case so that one should do a thorough work up to establish a firm diagnosis of HLH and to search for genetic causes of this disorder. PMID:25634853

  1. 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…

  2. Current diagnostic trends in sleep disordered breathing

    PubMed Central

    Maurer, Joachim T.

    2006-01-01

    Over the past two decades, various methods of sophisticated diagnostics of the upper airway have been tested in patients with sleep disordered breathing (SDB). In this context, endoscopic techniques and pharyngeal pressure recordings are of special interest for the otorhinolaryngologist. Whereas the basic otorhinolaryngological examination is able to detect anatomical pathologies which need to and can be corrected, the Müller-Manoeuvre seems to help exclude patients from uvulopalatopharyngoplasty. To a large extent, videoendoscopy during natural sleep has been replaced by videoendoscopy under sedation. Despite good methodological preparation and impressive presentability of the obstructions, there is not sufficent evidence to demonstrate that videoendoscopy under sedation improves the success rate of surgery in SDB. However, in assessing the impact of the epiglottis on upper airway obstructions in the individual patient, videoendoscopy is the only existing option. Multi-channel pressure recordings permit analysing the entire sleep period and are well tolerated. They can be used to determine the Apnea-Hypopnea-Index as well as to quantify obstructive events in the upper and lower pharyngeal segment. On the other hand, obstructions of the tongue base cannot be distinguished from obstructions related to the epiglottis. According to the data available so far, the benefit of sophisticated diagnostics of the upper airway still has to be judged with caution. Therefore, the promising approaches of both videoendoscopy under sedation and multi-channel pressure recordings deserve further intensive research. According to the personal estimation of the author, they will nevertheless become valuable tools for otorhinolaryngologists in the near future, thus complementing the basic ENT-examination and improving the treatment of patients. PMID:22073071

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

    PubMed Central

    Benz, Jennifer; Rasmussen, Carmen; Andrew, Gail

    2009-01-01

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

  5. 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…

  6. Chronic Lyme; diagnostic and therapeutic challenges.

    PubMed

    Ljøstad, U; Mygland, Å

    2013-01-01

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

  7. 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. PMID:17727344

  8. Main challenges for ITER optical diagnostics

    NASA Astrophysics Data System (ADS)

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

    2014-08-01

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

  9. [Eating disorders: state of the art research and future challenges].

    PubMed

    Voderholzer, U; Cuntz, U; Schlegl, S

    2012-11-01

    Eating disorders are a common mental disorder during adolescence and young adulthood. While prevalence rates of eating disorders dramatically increased during the second half of the last century, these rates have remained relatively stable over the last 20 years. According to ICD-10 eating disorders are diagnostically categorized as anorexia nervosa, bulimia nervosa and atypical eating disorders or eating disorders not otherwise specified. Concerning the etiology, genetic factors are involved, especially in anorexia nervosa, as well as psychological and sociocultural factors. Evidence-based recommendations are available for the treatment of bulimia nervosa and binge eating disorder and in this context cognitive behavioral therapy is seen as the first choice. In contrast, the state of knowledge concerning the treatment of anorexia nervosa is still limited, especially concerning effective treatments for adults. Recent data only provide evidence for the effectiveness of family therapy for adolescents. Due to the lack of high quality studies, research on therapy for anorexia nervosa is a future challenge. PMID:23104604

  10. Small bowel Ascaris infestation: a diagnostic challenge.

    PubMed

    Khan, Muhammad Waqas; Ghauri, Sanniya Khan

    2016-01-01

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

  11. Small bowel Ascaris infestation: a diagnostic challenge

    PubMed Central

    Khan, Muhammad Waqas; Ghauri, Sanniya Khan

    2016-01-01

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

  12. Peritoneal inclusion cysts in pregnancy, a diagnostic challenge

    PubMed Central

    Hitzerd, Emilie; Jeurgens-Borst, Anneke J C M; Pijnenborg, Johanna M A

    2014-01-01

    A cystic pelvic mass detected during pregnancy is not uncommon, but can be a diagnostic challenge. Most of these pelvic masses are benign ovarian cysts and resolve spontaneously. However, rare non-ovarian causes can complicate the diagnostic and therapeutic management. In this report an unusual case is presented of a 27-year-old pregnant woman with an atypical multicystic lesion in the pelvis, seen on routine first trimester ultrasound. A laparoscopic exploration was performed to rule out ovarian malignancy, and after histological analysis she was diagnosed with peritoneal inclusion cysts. The diagnostic and therapeutic challenges inherent to this rare non-ovarian disease are addressed in this case report. PMID:24928933

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

    PubMed

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

    2002-09-01

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

  14. Martorell's Ulcer: Diagnostic and Therapeutic Challenge

    PubMed Central

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

    2015-01-01

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

  15. 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

  16. 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…

  17. 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.

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

    PubMed

    Nishida, Miwa

    2014-12-01

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

  19. 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…

  20. 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…

  1. 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

  2. Idiopathic pulmonary hemosiderosis - a diagnostic challenge.

    PubMed

    Bakalli, Ilirjana; Kota, Luljeta; Sala, Durim; Celaj, Ermela; Kola, Elmira; Lluka, Robert; Sallabanda, Sashenka

    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

  3. 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. PMID:23909972

  4. Anti-neuronal autoantibodies: Current diagnostic challenges.

    PubMed

    Probst, Christian; Saschenbrecker, Sandra; Stoecker, Winfried; Komorowski, Lars

    2014-05-01

    The spectrum of neurological autoimmune diseases has expanded substantially in the last 15 years due to the discovery of new anti-neuronal antibodies. There are at present numerous technical challenges for developing and improving standardized serological test systems for the detection of these autoantibodies, some of which occur very rarely. In particular, the determination of autoantibodies against complex cell surface structures generally requires authentically presented target antigens. Finally, research into syndrome associations benefits from multiplex analyses and accelerates the understanding of the complex autoimmune processes, forming an important basis for the development of novel therapy concepts. PMID:25876468

  5. Cancer chromosomal instability: therapeutic and diagnostic challenges.

    PubMed

    McGranahan, Nicholas; Burrell, Rebecca A; Endesfelder, David; Novelli, Marco R; Swanton, Charles

    2012-06-01

    Chromosomal instability (CIN)-which is a high rate of loss or gain of whole or parts of chromosomes-is a characteristic of most human cancers and a cause of tumour aneuploidy and intra-tumour heterogeneity. CIN is associated with poor patient outcome and drug resistance, which could be mediated by evolutionary adaptation fostered by intra-tumour heterogeneity. In this review, we discuss the clinical consequences of CIN and the challenges inherent to its measurement in tumour specimens. The relationship between CIN and prognosis supports assessment of CIN status in the clinical setting and suggests that stratifying tumours according to levels of CIN could facilitate clinical risk assessment. PMID:22595889

  6. Tumefactive multiple sclerosis: an uncommon diagnostic challenge

    PubMed Central

    Kaeser, Martha A.; Scali, Frank; Lanzisera, Frank P.; Bub, Glenn A.; Kettner, Norman W.

    2011-01-01

    Objective This case report describes a rare presentation of multiple sclerosis (MS) that was initially diagnosed as a peripheral nerve lesion in the emergency department. Clinical Features A 30-year-old woman presented to a chiropractic teaching clinic with a complaint of a sudden right foot drop. Magnetic resonance imaging of the brain revealed a large mass in the left parietal lobe with additional white matter lesions. The mass and smaller lesions were consistent with a rare presentation of demyelinating disease, tumefactive MS. Intervention and Outcome The patient was referred to a neurologist for further evaluation and treatment. Her short-term clinical course was punctuated by recurrent myospasms and neurologic deficits. Conclusion Tumefactive MS may mimic the clinical and magnetic resonance imaging characteristics of glioma or a cerebral abscess. The clinical presentation, pathophysiology, differential diagnosis, role of diagnostic imaging, and treatment options of MS are described. This case report illustrates that the timely diagnosis and optimal treatment of MS require recognition of its varied, sometimes atypical, and often nonspecific clinical and imaging manifestations. PMID:22027206

  7. [Diagnosis and differential diagnostic features of gender identity disorder].

    PubMed

    Kórász, Krisztián; Simon, Lajos

    2008-01-01

    Gender identity disorder, or transsexualism as it is more commonly known, is a highly complex clinical entity. It is an identifiable and incapacitating disease which can be diagnosed and successfully treated by reassignment surgery. The diagnosis of gender identity disorder can be a difficult process. Transsexual patients will have to undergo extensive psychiatric assessment. The authors review the development of nosology of transsexualism. The current classification systems, symptoms and diagnostic features of gender identity disorders are discussed. The article also discusses differential diagnostic features, like intersex states, psychosis, transvestitism, autogynephilia, gynandromorphophilia, and self-amputation. The authors also discuss the problem of comorbidity, as well. PMID:18956626

  8. Axis I diagnostic comorbidity and borderline personality disorder.

    PubMed

    Zimmerman, M; Mattia, J I

    1999-01-01

    Borderline personality disorder (PD) has been the most studied PD. Research has examined the relationship between borderline PD and most axis I diagnostic classes such as eating disorders, mood disorders, and substance use disorders. However, there is little information regarding the relationship of borderline PD and overall comorbidity with all classes of axis I disorders assessed simultaneously. In the present study, 409 patients were evaluated with semistructured diagnostic interviews for axis I and axis II disorders. Patients with a diagnosis of borderline PD versus those who did not receive the diagnosis were assigned significantly more current axis I diagnoses (3.4 v 2.0). Borderline PD patients were twice as likely to receive a diagnosis of three or more current axis I disorders (69.5% v 31.1%) and nearly four times as likely to have a diagnosis of four or more disorders 147.5% v 13.7%). In comparison to nonborderline PD patients, borderline PD patients more frequently received a diagnosis of current major depressive disorder (MDD), bipolar I and II disorder, panic disorder with agoraphobia, social and specific phobia, posttraumatic stress disorder (PTSD), obsessive-compulsive disorder (OCD), eating disorder NOS, and any somatoform disorder. Similar results were observed for lifetime diagnoses. Overall, borderline PD patients were more likely to have multiple axis I disorders than nonborderline PD patients, and the differences between the two groups were present across mood, anxiety, substance use, eating, and somatoform disorder categories. These findings highlight the importance of performing thorough evaluations of axis I pathology in patients with borderline PD in order not to overlook syndromes that are potentially treatment-responsive. PMID:10428182

  9. Cancer chromosomal instability: therapeutic and diagnostic challenges

    PubMed Central

    McGranahan, Nicholas; Burrell, Rebecca A; Endesfelder, David; Novelli, Marco R; Swanton, Charles

    2012-01-01

    Chromosomal instability (CIN)—which is a high rate of loss or gain of whole or parts of chromosomes—is a characteristic of most human cancers and a cause of tumour aneuploidy and intra-tumour heterogeneity. CIN is associated with poor patient outcome and drug resistance, which could be mediated by evolutionary adaptation fostered by intra-tumour heterogeneity. In this review, we discuss the clinical consequences of CIN and the challenges inherent to its measurement in tumour specimens. The relationship between CIN and prognosis supports assessment of CIN status in the clinical setting and suggests that stratifying tumours according to levels of CIN could facilitate clinical risk assessment. PMID:22595889

  10. 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

  11. Avoidant coping in panic disorder: a yohimbine biological challenge study.

    PubMed

    Kaplan, Johanna S; Arnkoff, Diane B; Glass, Carol R; Tinsley, Ruth; Geraci, Marilla; Hernandez, Elisa; Luckenbaugh, David; Drevets, Wayne C; Carlson, Paul J

    2012-07-01

    Few studies have addressed whether the use of avoidance-oriented coping strategies is related to the development of panic in patients with panic disorder(PD). Self-report, clinician-rated, and physiological data were collected from 42 individuals who participated in a yohimbine biological challenge study, performed under double-blind, placebo-controlled conditions. Participants included 20 healthy controls and 22 currently symptomatic patients who met DSM-IV-TR diagnostic criteria for PD. Consistent with prediction, patients with PD who had higher perceived efficacy of avoidance-oriented strategies in reducing anxiety-related thoughts reported increased severity in panic symptoms during the yohimbine challenge condition as compared to the placebo. Further, patients with PD who had more fear of cognitive dyscontrol, cardiovascular symptoms, and publicly observable anxiety also reported increased severity in panic symptoms during the challenge. Healthy controls who had more fear of cardiovascular symptoms similarly reported increased severity in panic symptoms during the challenge. No effects were found for heart rate response to the challenge agent. These results provide support for the role of avoidance-oriented coping strategies and fear of anxiety-related symptoms as risk and maintenance factors in the development of panic symptoms, particularly within a biological challenge model. PMID:21864204

  12. 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…

  13. 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. PMID:17185060

  14. 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

  15. Intubated, ventilating patients with complete tracheal transection: a diagnostic challenge.

    PubMed Central

    Bowley, Douglas M. G.; Plani, Frank; Murillo, Dennis; Smith, Martin; Degiannis, Elias

    2003-01-01

    Tracheal transection is a rare injury after blunt trauma. The presence of complete tracheal transection in the intubated, ventilating patient is even more rare and constitutes a major diagnostic challenge. The liberal use of computed tomography (CT) scans as an adjunct to endoscopy is paramount. PMID:12855026

  16. 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. PMID:27417404

  17. Historical Underpinnings of Bipolar Disorder Diagnostic Criteria.

    PubMed

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

    2016-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  19. Mindsight: Diagnostics in Disorders of Consciousness

    PubMed Central

    Guldenmund, P.; Stender, J.; Heine, L.; Laureys, S.

    2012-01-01

    Diagnosis of patients with disorders of consciousness (comprising coma, vegetative state/unresponsive wakefulness syndrome, and minimally conscious state) has long been dependent on unstandardized behavioral tests. The arrival of standardized behavioral tools, and especially the Coma Recovery Scale revised, uncovered a high rate of misdiagnosis. Ancillary techniques, such as brain imaging and electrophysiological examinations, are ever more often being deployed to aid in the search for remaining consciousness. They are used to look for brain activity patterns similar to those found in healthy controls. The development of portable and cheaper devices will make these techniques more widely available. PMID:23213492

  20. 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…

  1. Conduct Disorder in Girls: Diagnostic and Intervention Issues

    ERIC Educational Resources Information Center

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

    2003-01-01

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

  2. A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children.

    PubMed

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

    2012-09-01

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

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

    PubMed

    Gerlach, Martin; Sanner, Bernd

    2015-08-01

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

  4. Understanding the spectrum of haemophagocytic lymphohistiocytosis: update on diagnostic challenges and therapeutic options.

    PubMed

    Brisse, Ellen; Matthys, Patrick; Wouters, Carine H

    2016-07-01

    The cytokine storm syndrome 'haemophagocytic lymphohistiocytosis' (HLH) is an under-recognized hyperinflammatory disorder, causing high morbidity and mortality risk in children and adults. It can be subdivided into a primary, genetic form and a secondary, acquired form that complicates diverse infections, malignancies and autoimmune or autoinflammatory disorders. Both subtypes present with the same spectrum of non-specific symptoms, making accurate diagnosis and rapid treatment initiation challenging. In the last decade, increased awareness and international collaborative efforts fuelled a marked progress in diagnostic protocols and novel treatment strategies for HLH and new diagnostic guidelines are being tailored to specific secondary HLH subtypes. Therapy is gradually shifting its focus from overall immunosuppression towards targeting specific cytokines, cell types or signalling pathways underlying pathophysiology. Nevertheless, continued research efforts remain indispensable to customize therapy to individual patient needs. PMID:27292929

  5. 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. PMID:7804632

  6. Intermittent Malfunction of a Prosthetic Valve-A Diagnostic Challenge.

    PubMed

    Fadel, Bahaa M; Alassas, Khadija; Dahdouh, Ziad; Pergola, Valeria; Galzerano, Domenico; Di Salvo, Giovanni

    2016-06-01

    Intermittent malfunction of a mechanical valve prosthesis is a rare condition that carries serious clinical implications. It results from the periodic entrapment of a prosthetic disk in either an open or closed position leading to transient intravalvular regurgitation or obstruction to flow. The intermittent nature of the malfunction poses a diagnostic challenge, particularly in the era of digital echocardiography. In this manuscript, we describe the Doppler and two-dimensional echocardiographic findings in a patient with intermittent prosthetic mitral valve malfunction. PMID:26992105

  7. 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

  8. [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. PMID:20585747

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

    PubMed

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

    2016-01-01

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

  10. 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

  11. The reconstructive challenges and approach to patients with excoriation disorder.

    PubMed

    Galdyn, Izabela A; Chidester, Jeremy; Martin, Mark C

    2015-05-01

    Many mental and emotional disorders have some variations of physical manifestations that are often the first definitive sign of disease. One such disorder is excoriation (skin-picking) disorder, also known as dermatillomania, acne excoriée, neurotic excoriation, or psychogenic excoriation. First identified in the dermatologic literature in 1920, excoriation disorder involves repetitive scratching behavior that sometimes accompanies pruritus and is often associated with depression, anxiety, and obsessive-compulsive disorder. In the latest edition of the Diagnostic and Statistical Manual of Mental Disorders, the Diagnostic and Statistical Manual of Mental Disorders fifth edition, excoriation or skin-picking disorder is listed as a stand-alone disorder associated with obsessive-compulsive disorder. In certain patients, the skin lesions are shallow and have adherent crusts that can be mistaken for acne. These lesions, once healed, may appear white and partially atrophic. Because these patients often initially present to dermatologists or plastic surgeons for their skin conditions rather than to psychiatric professionals, it is important to recognize the salient diagnostic features and to acknowledge the importance of a multidisciplinary approach to patient care and management. We present a case of a 51-year-old woman with excoriation disorder who required medical management by dermatology, neurosurgery, psychiatry, and plastic surgery for a definitive surgical treatment. PMID:25974792

  12. Update on prolactinomas. Part 1: Clinical manifestations and diagnostic challenges.

    PubMed

    Wong, Anni; Eloy, Jean Anderson; Couldwell, William T; Liu, James K

    2015-10-01

    The authors provide an update on the clinical manifestations and diagnostic challenges of prolactinomas. Prolactinomas are the most common pituitary adenoma seen in clinical practice. Secondary causes of hyperprolactinemia should be ruled out by assessment of the clinical history, including current medications, physical examination, pregnancy test, routine biochemical analysis with a thyroid function test, and neuroimaging, before a confirmatory diagnosis of prolactinoma is made. Prolactinomas are associated with endocrine dysfunction, affecting gonadal function and causing neurological deficits due to mass effect. The progress in elucidating the pathogenesis of prolactinomas and advances in diagnostic methods, including more sensitive diagnostic hormone assays and neuroimaging, have enriched the current diagnostic approach and management. Making the correct diagnosis is crucial to implementing the appropriate therapy. Dopamine agonist therapy remains the first line of treatment for prolactinomas, as it is effective in normalizing serum prolactin levels and reducing tumor size. Surgery is typically indicated for patients who are resistant to medical therapy or intolerant of its adverse side effects, or for those experiencing progressive neurological deficits. Nevertheless, curative surgical resection as a primary mode of treatment for smaller prolactinomas has recently gained attention as an alternative to lifelong dopamine agonist treatment. PMID:26256063

  13. TMJ Disorders: Future Innovations in Diagnostics and Therapeutics

    PubMed Central

    Wadhwa, Sunil; Kapila, Sunil

    2008-01-01

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

  14. 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

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

    PubMed

    Ziats, Mark N; Rennert, Owen M

    2016-01-01

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

  16. 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…

  17. Eating disorder diagnostic scale: additional evidence of reliability and validity.

    PubMed

    Stice, Eric; Fisher, Melissa; Martinez, Erin

    2004-03-01

    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 diagnoses, convergent validity with risk factors for eating pathology, and internal consistency. Studies 2 and 3 found that the EDDS was sufficiently sensitive to detect the effects of eating disorder prevention programs. Regarding predictive validity, Studies 3 and 4 found that the EDDS predicted response to a prevention program and future onset of eating pathology and depression. Results provide additional evidence of the reliability and validity of this scale and suggest it may be useful in clinical and research applications. PMID:15023093

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

    PubMed

    2016-05-01

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

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

    PubMed

    Dobnik, David; Morisset, Dany; Gruden, Kristina

    2010-03-01

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

  20. Which diagnostic findings in disorders with excessive daytime sleepiness are really helpful? A retrospective study.

    PubMed

    Kretzschmar, Ute; Werth, Esther; Sturzenegger, Christian; Khatami, Ramin; Bassetti, Claudio L; Baumann, Christian R

    2016-06-01

    Due to extensive clinical and electrophysiological overlaps, the correct diagnosis of disorders with excessive daytime sleepiness is often challenging. The aim of this study was to provide diagnostic measures that help discriminating such disorders, and to identify parameters, which don't. In this single-center study, we retrospectively identified consecutive treatment-naïve patients who suffered from excessive daytime sleepiness, and analyzed clinical and electrophysiological measures in those patients in whom a doubtless final diagnosis could be made. Of 588 patients, 287 reported subjective excessive daytime sleepiness. Obstructive sleep apnea is the only disorder that could be identified by polysomnography alone. The diagnosis of insufficient sleep syndrome relies on actigraphy as patients underestimate their sleep need and the disorder shares several clinical and electrophysiological properties with both narcolepsy type 1 and idiopathic hypersomnia. Sleep stage sequencing on MSLT appears helpful to discriminate between insufficient sleep syndrome and narcolepsy. Sleep inertia is a strong indicator for idiopathic hypersomnia. There are no distinctive electrophysiological findings for the diagnosis of restless legs syndrome. Altogether, EDS disorders are common in neurological sleep laboratories, but usually cannot be diagnosed based on PSG and MSLT findings alone. The diagnostic value of actigraphy recordings can hardly be overestimated. PMID:26864219

  1. Optoelectronic pantography diagnostics of temporomandibular disorders in patients with bruxism.

    PubMed

    Mehulić, Ketij; Gospić, Renata Kevilj; Dundjer, Alenko; Skrinjarić, Tomislav; Stefancić, Sanja; Vojvodić, Denis; Perinić, Margareta

    2009-09-01

    Temporomandibular disorders (TMD) is a joint term that encompasses a number of clinical symptoms that involve the teeth, masticatory musculature and temporomandibular joints (TMJ). They are a frequent cause of orofacial medical conditions. The aetiology of disorders is complex and individual etiologic factors are not sufficiently defined. Bruxism, in its centric or eccentric form, is becoming a frequent problem for dentists. The purpose of this study is to show factors of the condyle leading in patients with bruxism by optoelectronic pantography, and to establish the possibility of using optoelectronic pantography in the diagnostic procedure of TMD. Patients were selected (N = 42), with incomplete sets of teeth, without prosthodontic appliances and with traces and symptoms of TMD. After completing the history questionnaire a clinical check up and plaster cast analysis patients with bruxism were selected (N = 22) and without bruxism (N = 20). During the study optoelectronic String-condylocomp LR3, Dentron, D-Höchberg (software JAWS 30) was used. This study showed the possibility of applying optoelectronic pantography in TMD diagnostics and compares history, clinical and condylographic parameters in TMD patients with and without bruxism. Optoelectronic pantography enables us, by using relatively easy methods, to determine a more accurate diagnosis, highly important when choosing therapeutic methods and control of the aforementioned disorders. PMID:19860114

  2. [Prolonged grief disorder: towards a new diagnostic category].

    PubMed

    Chiambretto, P

    2008-01-01

    The grief in response to loss of a significant is a normal, inevitable, experience of life. Nevertheless some people, even after a couple of months, do not succeed in integrating this experience in their daily life and remain stuck in a state of suffering condition that seriously extended in the time is functionally impairing. For long time psychology has focused on bereavement subsequent to the loss and the complications that can derive from the missing elaboration. The condition of prolonged grief has been object of a large debate in the past years, up to the individualization of a specific set of symptoms identified in a new diagnostic category: the Prolonged Grief Disorder (PGD). The PGD is featured as a condition of emotional distress and physical distress by the loss, not for the death, of a significant only, with daily involvement in all function areas. Our work given a short and non exhaustive overview of the cultural and scientific run that has brought to the collection of the evidences to insert the PGD as new diagnostic category in the DSM V and a comparison between the Post-Traumatic Stress Disorder (PTSD) and the Major Depressive Disorder (MDD) for better underlining similes, but above all differences among categories that subtend clinical conditions that can appear sometimes overlaps. PMID:19288776

  3. Comparison of Diagnostic Criteria for Common Variable Immunodeficiency Disorder

    PubMed Central

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

    2014-01-01

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

  4. [Suggestion of a new diagnostic category: posttraumatic embitterment disorder].

    PubMed

    Hasanoğlu, Alper

    2008-01-01

    Psychological reactions to negative life events have been among the most interesting subjects to researchers for a long time. In recent years post traumatic stress disorder (PTSD), in particular, has been the focus of numerous studies. This disorder is defined as a reaction to an event that is accepted as traumatic by almost everyone, to an extraordinary life-threatening event, or to a disaster. Psychological reaction to events, which are not directly life threatening, is classified as adjustment disorder and is rarely diagnosed in clinical practice. As a result of experiencing such non-life threatening events, PTSD is claimed to be an adjustment disorder as well. Immigrants frequently report a depressive state in which physical symptoms are in the foreground accompanied by social withdrawal and diminished energy. Negative life events, which are not life threatening and are not experienced everyday, can impair mental health so that the above state may worsen and an immigrant may have a reduction in his performance at work. This state, which is accompanied by such symptoms as embitterment, feelings of injustice, repeated intrusive memories of critical events (injustice at work place, loss of a job, discrimination in a public office, etc.), phobic symptoms, and avoidance behavior towards the place or persons related to the event, might best be described by the term, posttraumatic embitterment disorder (PTED). This disorder, which was initially described in immigrants from East Germany following the fall of the Berlin Wall, and which does not exactly match the diagnostic criteria of adjustment disorder or PTSD, is presented in a case vignette and its differential diagnosis is discussed. PMID:18330747

  5. 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. PMID:25314232

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

    PubMed

    Zachar, Peter; Kendler, Kenneth S

    2014-04-01

    The proposals to include a menstruation-related mood disorder in the Diagnostic and Statistical Manual of Mental Disorders, Revised Third Edition (DSM-III-R), and DSM-IV led to intense public and behind-the-scenes controversy. Although the controversies surrounding the DSM-5 revision were greater in number than the controversies of the earlier revisions, the DSM-5 proposal to include a menstruation-related mood disorder was not among them. Premenstrual dysphoric disorder was made an official disorder in the DSM-5 with no significant protest. To understand the factors that led to this change, we interviewed those psychiatrists and psychologists who were most involved in the DSM-IV revision. On the basis of these interviews, we offer a list of empirical and nonempirical considerations that led to the DSM-IV compromise and explore how key alterations in these considerations led to a different outcome for the DSM-5. PMID:24647220

  7. 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

  8. 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. PMID:10633643

  9. Prodromal herpes zoster mimicking odontalgia--a diagnostic challenge.

    PubMed

    Patil, Shilpa; Srinivas, K; Reddy, Bh Satheesha; Gupta, Mudit

    2013-03-01

    Herpes zoster (shingles) is caused by reactivation of the latent varicella zoster virus which is present due to an earlier varicella infection (chicken-pox). Herpes Zoster is a less common and endemic disease than varicella, although factors causing reactivation are still not well known, but it occurs in older and/or immunocompromised individuals. Involvement of C3, T5, L1, L2 and first division of trigeminal nerve are the most frequently encountered whereas the involvement of second and third division of trigeminal nerve is rarely seen. During the prodromal stage, the only presenting symptom may be odontalgia, which may prove to be a diagnostic challenge for the dentist, since many diseases can cause orofacial pain, and the diagnosis must be properly established before final treatment. Here we present a case of herpes zoster involving the second division of trigeminal nerve masquerading as odontalgia. The difficulties in diagnosis and management are discussed. PMID:23559842

  10. Diagnostic Options and Challenges for Dengue and Chikungunya Viruses

    PubMed Central

    Mardekian, Stacey K.; Roberts, Amity L.

    2015-01-01

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

  11. 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. PMID:26450153

  12. 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. PMID:25298763

  13. 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

  14. Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach.

    PubMed

    Szymańska, Krystyna; Kuśmierska, Katarzyna; Demkow, Urszula

    2015-01-01

    Neurotransmitters (NTs) play a central role in the efficient communication between neurons necessary for normal functioning of the nervous system. NTs can be divided into two groups: small molecule NTs and larger neuropeptide NTs. Inherited disorders of NTs result from a primary disturbance of NTs metabolism or transport. This group of disorders requires sophisticated diagnostic procedures. In this review we discuss disturbances in the metabolism of tetrahydrobiopterin, biogenic amines, γ-aminobutyric acid, foliate, pyridoxine-dependent enzymes, and also the glycine-dependent encephalopathy. We point to pathologic alterations of proteins involved in synaptic neurotransmission that may cause neurological and psychiatric symptoms. We postulate that synaptic receptors and transporter proteins for neurotransmitters should be investigated in unresolved cases. Patients with inherited neurotransmitters disorders present various clinical presentations such as mental retardation, refractory seizures, pyramidal and extrapyramidal syndromes, impaired locomotor patterns, and progressive encephalopathy. Every patient with suspected inherited neurotransmitter disorder should undergo a structured interview and a careful examination including neurological, biochemical, and imaging. PMID:25310959

  15. 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

  16. A Longitudinal Look at Parent?Child Diagnostic Agreement in Youth Treated for Anxiety Disorders

    ERIC Educational Resources Information Center

    Safford, Scott M.; Kendall, Philip C.; Flannery-Schroeder, Ellen; Webb, Alicia; Sommer, Heath

    2005-01-01

    This study examined diagnostic agreement between children and their parents for seventy 9- to 13-year-olds (45 boys and 25 girls) who had received cognitive?behavioral treatment for anxiety disorders. Parent-child diagnostic rates and agreements for generalized anxiety disorder, separation anxiety disorder, and social phobia were evaluated at 3…

  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. PMID:21416867

  18. 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

  19. Diagnostic sensitivity of bone scintigraphy for equine stifle disorders.

    PubMed

    Graham, Sarah; Solano, Mauricio; Sutherland-Smith, James; Sato, Amy F; Maranda, Louise

    2015-01-01

    Disorders of the stifle are a common cause of lameness in horses yet the accuracy of scintigraphy for diagnosis of stifle conditions is controversial. The aim of retrospective cross-sectional study was to determine the diagnostic sensitivity (Se) of bone scintigraphy in detecting stifle disease and to determine if two orthogonal scintigraphic images improve diagnostic Se. Horses that underwent scintigraphic examination during a two-year period were included. Horses were divided into two groups: group 1 (N = 23) had lameness that was localized to the stifle by intra-articular analgesia and group 2 (N = 182) had lameness that was localized to a different location. Scintigraphic studies (one image or two images) were independently and retrospectively analyzed by two radiologists (R1 and R2). Sensitivity, specificity (Sp) and predictive values (PV), and were calculated for each type of study (one image or two images) and for each radiologist (R1 or R2). The Se to detect stifle disorders varied between radiologists (29.2% and 20.8%). The Sp was 84.5% and 88.3%. When two images were evaluated a decrease in the positive PV for both readers occurred. The Cohen kappa coefficient (κ) between readers was poor when one image (0.084) or two images (0.117) were evaluated. Findings from this study indicated that bone-phase nuclear scintigraphy is reasonably specific but highly insensitive for detecting lameness originating from the stifle in a diverse population of both normal and affected horses. The addition of a caudal scintigraphic image acquisition did not improve diagnostic sensitivity. PMID:25065687

  20. 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…

  1. Clinical and diagnostic aspects of gluten related disorders.

    PubMed

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

    2015-03-16

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

  2. Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

    PubMed

    Tonduti, Davide; Chiapparini, Luisa; Moroni, Isabella; Ardissone, Anna; Zorzi, Giovanna; Zibordi, Federica; Raspante, Sergio; Panteghini, Celeste; Garavaglia, Barbara; Nardocci, Nardo

    2016-06-01

    Neostriatal abnormalities can be observed in a very large number of neurological conditions clinically dominated by the presence of movement disorders. The neuroradiological picture in some cases has been described as "bilateral striatal necrosis" (BSN). BSN represents a condition histo-pathologically defined by the involvement of the neostriata and characterized by initial swelling of putamina and caudates followed by degeneration and cellular necrosis. After the first description in 1975, numerous acquired and hereditary conditions have been associated with the presence of BSN. At the same time, a large number of disorders involving neostriata have been described as BSN, in some cases irrespective of the presence of signs of cavitation on MRI. As a consequence, the etiological spectrum and the nosographic boundaries of the syndrome have progressively become less clear. In this study, we review the clinical and radiological features of the conditions associated with MRI evidence of bilateral striatal lesions. Based on MRI findings, we have distinguished two groups of disorders: BSN and other neostriatal lesions (SL). This distinction is extremely helpful in narrowing the differential diagnosis to a small group of known conditions. The clinical picture and complementary exams will finally lead to the diagnosis. We provide an update on the etiological spectrum of BSN and propose a diagnostic flowchart for clinicians. PMID:27074771

  3. Clinical and diagnostic aspects of gluten related disorders

    PubMed Central

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

    2015-01-01

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

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

    ERIC Educational Resources Information Center

    Sperry, Laurie A.; Mesibov, Gary B.

    2005-01-01

    This study examines perceptions of social challenges by adults with autism spectrum disorder (ASD). The investigators analyzed three separate, regularly scheduled social group meetings attended by a total of 18 adults with ASD where the activity was a discussion of social issues. Participants generated social questions and challenges they had…

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

    PubMed Central

    McCammon, Jasmine M.; Sive, Hazel

    2015-01-01

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

  6. Renal confined sarcoidosis: Natural history and diagnostic challenge

    PubMed Central

    Ghafoor, Azam; Almakki, Akram

    2014-01-01

    A 69 year old male referred to nephrology clinic for uncontrolled hypertension. During his follow up over two years, he developed renal disease and hypercalcemia. He was found to have monoclonal gammopathy (MGUS). Urinalysis was negative except for Monoclonal IgG on immunoelectrophoresis. Workup for malignancy was negative including chest X-ray and bone marrow biopsy. He progressed into renal failure and ended up on dialysis. Interestingly, the renal biopsy showed non-caseating granulomas, and the patient was diagnosed with renal confined sarcoidosis which is extremely rare. PPD was negative. He was treated with Prednisone 60 mg daily. Surprisingly, his kidney disease was not responsive to steroids. Despite improvement in his calcium with treatment, his kidney function did not improve and he remained on hemodialysis but needed to stay on small dose of Prednisone to keep his calcium under control. Our case is the first in the literature that demonstrates the natural history of renal-confined sarcoidosis. In addition, the presence of MGUS created a diagnostic challenge and delayed diagnosis of sarcoidosis. Although the renal biopsy did not show direct damage from MGUS, a potential relation between renal sarcoidosis and MGUS is worth studied. PMID:24761384

  7. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2015-07-14

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

  9. Diagnostic Imaging Guidelines Implementation Study for Spinal Disorders

    PubMed Central

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

    2010-01-01

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

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

    PubMed

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

    2009-05-01

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

  11. Diagnostic criteria for psychosomatic research and somatic symptom disorders.

    PubMed

    Sirri, Laura; Fava, Giovanni A

    2013-02-01

    The Diagnostic Criteria for Psychosomatic Research (DCPR) were introduced in 1995 by an international group of investigators to expand the traditional domains of the disease model. The DCPR are a set of 12 'psychosomatic syndromes' which provide operational tools for psychosocial variables with prognostic and therapeutic implications in clinical settings. Eight syndromes concern the main manifestations of abnormal illness behaviour: somatization, hypochondriacal fears and beliefs, and illness denial. The other four syndromes (alexithymia, type A behaviour, demoralization and irritable mood) refer to the domain of psychological factors affecting medical conditions. This review describes the conceptual bases of the DCPR and the main findings concerning their application, with particular reference to the incremental information they added to the customary psychiatric classification. The DCPR were also compared with the provisional DSM-5 somatic symptom disorders. The DCPR were found to be more sensitive than DSM-IV in identifying subthreshold psychological distress and characterizing patients' psychological response to medical illness. DSM-5 somatic symptom disorders seem to neglect important clinical phenomena, such as illness denial, resulting in a narrow view of patients' functioning. The additional information provided by the DCPR may enhance the decision-making process. PMID:23383664

  12. 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. PMID:25388612

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

    PubMed Central

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

    2015-01-01

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

  14. Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories.

    PubMed

    Wong, Lee-Jun C

    2013-04-01

    Molecular diagnosis of complex dual genome mitochondrial disorders is a challenge. It requires the identification of deleterious mutations in one of the ~1,500 nuclear genes and the mitochondrial genome. If the molecular defect is in the mitochondrial genome, quantification of degree of mutation load (heteroplasmy) in affected tissues is important. Due to the extreme clinical and genetic heterogeneity, conventional sequence analysis of the candidate genes one-by-one is impractical, if not impossible. The newly developed massively parallel next generation sequencing (NGS) technique, that allows simultaneous sequence analysis of multiple target genes, when appropriately validated with deep coverage and proper quality controls, can be used as an effective comprehensive diagnostic approach in CLIA certified clinical laboratories. PMID:23269496

  15. 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…

  16. 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…

  17. Congenital myasthenic syndromes in childhood: diagnostic and management challenges.

    PubMed

    Kinali, M; Beeson, D; Pitt, M C; Jungbluth, H; Simonds, A K; Aloysius, A; Cockerill, H; Davis, T; Palace, J; Manzur, A Y; Jimenez-Mallebrera, C; Sewry, C; Muntoni, F; Robb, S A

    2008-09-15

    The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. We present our experience of 46 children with CMS, referred to us between 1992-2007 with provisional diagnoses of congenital myopathy (22/46), CMS or limb-girdle myasthenia (9/46), central hypotonia or neurometabolic disease (5/46), myasthenia gravis (4/46), limb-girdle or congenital muscular dystrophy (4/46) and SMA (2/46). Diagnosis was often considerably delayed (up to 18y4 m), despite the early symptoms in most cases. Diagnostic clues in the neonates were feeding difficulties (29/46), hypotonia with or without limb weakness (21/46), ptosis (19/46), respiratory insufficiency (12/46), contractures (4/46) and stridor (6/46). Twenty-five children had delayed motor milestones. Fatigability developed in 43 and a variable degree of ptosis was eventually present in 40. Over the period of the study, the mainstay of EMG diagnosis evolved from repetitive nerve stimulation to stimulation single fibre EMG. The patients were studied by several different operators. 66 EMGs were performed in 40 children, 29 showed a neuromuscular junction abnormality, 7 were myopathic, 2 had possible neurogenic changes and 28 were normal or inconclusive. A repetitive CMAP was detected in only one of seven children with a COLQ mutation and neither of the two children with Slow Channel Syndrome mutations. Mutations have been identified so far in 32/46 children: 10 RAPSN, 7 COLQ, 6 CHRNE, 7 DOK7, 1 CHRNA1 and 1 CHAT. 24 of 25 muscle biopsies showed myopathic changes with fibre size variation; 14 had type-1 fibre predominance. Three cases showed small type-1 fibres resembling fibre type disproportion, and four showed core-like lesions. No specific myopathic features were associated with any of the genes. Twenty children responded to Pyridostigmine treatment alone

  18. 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

  19. Invited commentary on Australian fetal alcohol spectrum disorder diagnostic guidelines

    PubMed Central

    2014-01-01

    The publication of Australian fetal alcohol spectrum disorder (FASD) diagnostic guidelines marks an important step forward in Australia’s efforts to prevent FASD. But do we need yet another set of FASD guidelines? At the 5th International FASD Conference, the ever growing number of FASD diagnostic guidelines was identified as a core area of concern by leaders in FASD worldwide. All agreed we need to strive to adopt a single set of guidelines. It is essential that FASD diagnosis advance to incorporate new knowledge and technology. But to date, the field of FASD has seen multiple sets of guidelines published that do not address the important question-How is the performance of these new guidelines superior to the performance of existing guidelines to warrant/justify their introduction into the medical literature? The Australian guidelines include FAS, PFAS and Neurodevelopmental Disorder-Alcohol Exposed (ND-AE). This latter group includes individuals with severe CNS abnormalities without the physical features of FAS. This is the group the 4-Digit-Code calls Static-Encephalopathy-Alcohol-Exposed (SE-AE). The criteria for FAS, PFAS, and ND-AE (or what the 4-Digit-Code calls SE-AE) are identical between the Australian and 4-Digit-Code guidelines with the exception of one very small, but very consequential difference in facial criteria for PFAS. The 4-Digit-Code requires a Rank 3 FAS facial phenotype for PFAS (J Popul Ther Clin Pharmacol20(3):e416–e467, 2013); the Australian guidelines relax the criteria to include the Rank 2 FAS facial phenotype. This relaxation of the criteria renders the facial phenotype NOT specific to prenatal alcohol exposure as confirmed in published empirical studies. If the facial phenotype is not specific to (caused only by) prenatal alcohol exposure one can no longer validly call the outcome PFAS. When one makes a diagnosis of FAS (full or partial), one is stating explicitly that the individual has a syndrome caused by prenatal alcohol

  20. Invited commentary on Australian fetal alcohol spectrum disorder diagnostic guidelines.

    PubMed

    Astley, Susan J

    2014-01-01

    The publication of Australian fetal alcohol spectrum disorder (FASD) diagnostic guidelines marks an important step forward in Australia's efforts to prevent FASD. But do we need yet another set of FASD guidelines? At the 5th International FASD Conference, the ever growing number of FASD diagnostic guidelines was identified as a core area of concern by leaders in FASD worldwide. All agreed we need to strive to adopt a single set of guidelines. It is essential that FASD diagnosis advance to incorporate new knowledge and technology. But to date, the field of FASD has seen multiple sets of guidelines published that do not address the important question-How is the performance of these new guidelines superior to the performance of existing guidelines to warrant/justify their introduction into the medical literature?The Australian guidelines include FAS, PFAS and Neurodevelopmental Disorder-Alcohol Exposed (ND-AE). This latter group includes individuals with severe CNS abnormalities without the physical features of FAS. This is the group the 4-Digit-Code calls Static-Encephalopathy-Alcohol-Exposed (SE-AE). The criteria for FAS, PFAS, and ND-AE (or what the 4-Digit-Code calls SE-AE) are identical between the Australian and 4-Digit-Code guidelines with the exception of one very small, but very consequential difference in facial criteria for PFAS. The 4-Digit-Code requires a Rank 3 FAS facial phenotype for PFAS (J Popul Ther Clin Pharmacol20(3):e416-e467, 2013); the Australian guidelines relax the criteria to include the Rank 2 FAS facial phenotype. This relaxation of the criteria renders the facial phenotype NOT specific to prenatal alcohol exposure as confirmed in published empirical studies. If the facial phenotype is not specific to (caused only by) prenatal alcohol exposure one can no longer validly call the outcome PFAS. When one makes a diagnosis of FAS (full or partial), one is stating explicitly that the individual has a syndrome caused by prenatal alcohol exposure

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

    SciTech Connect

    Kenneth M. Young

    2002-01-28

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

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

    PubMed Central

    Andrews, Jason R.; Ryan, Edward T.

    2015-01-01

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

  3. 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. PMID:25937611

  4. 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. PMID:25942653

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

    PubMed

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

    2016-01-01

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

  6. Psychopathy, conduct disorder, and stigma: does diagnostic labeling influence juvenile probation officer recommendations?

    PubMed

    Murrie, Daniel C; Cornell, Dewey G; McCoy, Wendy K

    2005-06-01

    This study investigated the potential influence of labeling a juvenile as psychopathic. Juvenile probation officers (JPOs; N = 260) rendered hypothetical recommendations based on eight mock psychological evaluations. The evaluations varied the presence of two diagnostic criteria (antisocial behavioral history and psychopathic personality traits) and diagnostic labels (psychopathy, conduct disorder, no diagnosis) in order to distinguish criterion effects from labeling effects. The diagnostic criteria of antisocial behavior had a substantial effect on JPO recommendations (effect sizes .50-.79), while the diagnostic criteria of psychopathic personality traits had a more limited effect. Surprisingly, diagnostic labels had little effect, and there were no appreciable differences between conduct disorder and psychopathy diagnoses. These findings illustrate the importance of distinguishing diagnostic criterion effects from diagnostic labeling effects. PMID:15965631

  7. Glycan-based diagnostic devices: current progress, challenges and perspectives.

    PubMed

    Wang, Sheng-Kai; Cheng, Chao-Min

    2015-12-01

    Diagnosis is an essential launching point for accurate medical treatment, and rapid and accurate diagnostic approaches have become the increasingly vital goal inspiring developments in a variety of analytical methods. With increasing attention in the area of glycosciences, the roles that carbohydrates play in many diseases have been elucidated, and the use of carbohydrates as disease biomarkers has become an emerging diagnostics strategy. This review article does not intend to comprehensively include all carbohydrate-related diagnostics studies. We do, however, wish to describe carbohydrate recognition and the design of sensitive detecting devices, especially those developed recently, so that readers might better grasp the principles behind such devices and relevant detection strategies, particularly those favoring inexpensive, rapid, and point-of-care (POC) approaches. PMID:26421872

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

    PubMed

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

    2015-06-01

    After decades of researchers calling for the creation of a self-injury syndrome, the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders listed Nonsuicidal Self-Injury (NSSI) disorder as a condition for further study. The purpose of this review is to provide information about the current status of research on NSSI disorder, current arguments for and against the disorder's creation, and areas that require further research. Specifically, we address the five biggest obstacles to validation: the need for clear delimitation from other psychiatric disorders as well as suicidal behavior, the need to fully explore the developmental course of the disorder, empirically establishing the most appropriate diagnostic criteria, and the potential clinical utility of creating a new disorder. With further research in these key areas, we expect that there will soon be enough evidence for the validity of NSSI disorder to warrant its inclusion in a future edition of the DSM. PMID:25881206

  9. A second visually impaired, mentally retarded male with pervasive developmental disorder, Tourette disorder and Ganser's syndrome: diagnostic classification and treatment.

    PubMed

    Kerbeshian, J; Burd, L

    The authors report a second visually impaired, mentally retarded male who presents with symptoms consistent with atypical pervasive developmental disorder, Tourette disorder, and a syndrome of approximate answers (Ganser's syndrome). Both this case and an earlier reported case are significant in that they identify two children with strikingly similar long-standing symptoms and developmental histories. Since these findings may have broader relevance to children with multiple coexisting disorders, diagnostic and intervention strategies in this population are reviewed. PMID:3459721

  10. 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

  11. 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

    2016-04-01

    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

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

    PubMed

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

    2016-06-01

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

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

    PubMed

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

    2015-01-01

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

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

    ERIC Educational Resources Information Center

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

    2011-01-01

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

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

    ERIC Educational Resources Information Center

    Linning, Lisa M.; Kearney, Christopher A.

    2004-01-01

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

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

    ERIC Educational Resources Information Center

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

    2013-01-01

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

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

    PubMed

    Levin, Edmund C

    2009-01-01

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

  18. Pediatric Hemophagocytic Syndromes: A Diagnostic and Therapeutic Challenge

    PubMed Central

    2005-01-01

    Pediatric hemophagocytic syndrome (HS) is a severe and often fatal clinical disorder. This syndrome is frequently unrecognized, and thus, affected children may receive suboptimal management, leading to an increase in mortality. The purpose of this review is to provide a clinical guide to (1) the recognition of HS based on clinical, biologic, and pathologic features; (2) the identification of the primary cause of HS in a given affected child; and (3) the initiation of effective treatment in a timely manner. PMID:20529219

  19. 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

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

    PubMed

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

    2015-03-01

    The prevalence of allergy to furry animals has been increasing, and allergy to cats, dogs, or both is considered a major risk factor for the development of asthma and rhinitis. An important step forward in the diagnosis of allergy to furry animals has been made with the introduction of molecular-based allergy diagnostics. A workshop on furry animals was convened to provide an up-to-date assessment of our understanding of (1) the exposure and immune response to the major mammalian allergens, (2) the relationship of these responses (particularly those to specific proteins or components) to symptoms, and (3) the relevance of these specific antibody responses to current or future investigation of patients presenting with allergic diseases. In this review research results discussed at the workshop are presented, including the effect of concomitant exposures from other allergens or microorganisms, the significance of the community prevalence of furry animals, molecular-based allergy diagnostics, and a detailed discussion of cat and dog components. PMID:25282018

  1. 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

  2. Rare cystic liver lesions: a diagnostic and managing challenge.

    PubMed

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

    2013-11-21

    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

  3. [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. PMID:24728766

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

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

    ERIC Educational Resources Information Center

    Brody, Michelle L.; And Others

    1994-01-01

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

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

    PubMed Central

    Tiwari, S.C.; Singh, Sarvesh

    2004-01-01

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

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

    PubMed

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

    2015-08-01

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

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

    PubMed

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

    2014-01-01

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

  9. 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

  10. Stafne’s Bone Cavity: A Diagnostic Challenge

    PubMed Central

    Das, Sunanda; Gupta, Swati; Patel, Pranay; Saha, Nairita

    2015-01-01

    Stafne’s bone cavity is a rare, asymptomatic, unilateral oval shaped radiolucent defect in the posterior region of the mandible below the inferior alveolar canal. The prevalence ranges from 0.10% to 0.48% and more common in males. It is mostly an incidental finding on panoramic radiograph. This radiolucency is considered to be a deformity of the medial cortex. This article presents five rare cases of Stafne’s bone cavity which were referred for opinion or wrongly diagnosed by practicing health professionals as jaw tumour leading to psychological distress in these patients. This article also focuses on reviewing the published literature, differential diagnosis along with use of various diagnostic imaging resources for this bone defect and to add five new Indian cases to the literature. PMID:26673626

  11. 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

  12. 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…

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

    PubMed

    Kühner, C

    2016-09-01

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

  14. 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

  15. Expanding newborn screening for lysosomal disorders: opportunities and challenges.

    PubMed

    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 suitable screening methods, the LSDs that are considered for NBS generally include Fabry, Gaucher, Krabbe, MPSI, MPSII, MPSV, Metachromatic leukodystrophy, Niemann-Pick, and Pompe. Utilizing traditional and expanded criteria for consideration of NBS leads to a set of fundamental questions that need to be explored when considering the opportunities and challenges of adding LSDs to NBS panels. PMID:22447749

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

    PubMed

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

    2010-09-01

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

  17. Adult Diagnostic and Functional Outcomes of DSM-5 Disruptive Mood Dysregulation Disorder

    PubMed Central

    Copeland, William E.; Shanahan, Lilly; Egger, Helen; Angold, Adrian; Costello, E. Jane

    2014-01-01

    Objective Disruptive mood dysregulation disorder is a new disorder for DSM-5 that is uncommon and frequently co-occurs with other psychiatric disorders. Here, we test whether meeting diagnostic criteria for this disorder in childhood predicts adult diagnostic and functional outcomes. Methods In a prospective, population-based study, subjects were assessed with structured interviews up to 6 times in childhood and adolescence (ages 10 to 16; 5336 observations of 1420 subjects) for symptoms of disruptive mood dysregulation disorder and 3 times in young adulthood (ages 19, 21, and 24-26; 3215 observations of 1273 subjects) for psychiatric and functional outcomes (health, risky/illegal behavior, financial/educational and social functioning). Results Young adults with a history of childhood disruptive mood dysregulation disorders had elevated rates of anxiety and depression and were more likely to meet criteria for more than one adult disorder as compared to controls with no history of childhood psychiatric problems (noncases) or subjects meeting criteria for psychiatric disorders other than disruptive mood dysregulation disorder in childhood/adolescence (psychiatric controls). Participants with a history of disruptive mood dysregulation disorder also were more likely to have adverse health outcomes, be impoverished, have reported police contact, and have low educational attainment as adults compared to either psychiatric or noncase controls. Conclusions The long-term prognosis of children with disruptive mood dysregulation disorder cases is one of pervasive impaired functioning that in many cases is worse than that of other childhood psychiatric cases. PMID:24781389

  18. Confluent and reticulated papillomatosis: diagnostic and treatment challenges

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2016-01-01

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

  20. Thyrotoxic periodic paralysis in Caucasian patients: a diagnostic challenge.

    PubMed

    Pichon, Bertrand; Lidove, Olivier; Delbot, Thierry; Aslangul, Elisabeth; Hausfater, Pierre; Papo, Thomas

    2005-09-01

    Secondary hypokalemic periodic paralysis is rare. However, when it occurs, it is usually associated with Graves' disease and it is mostly diagnosed in Asiatic male patients. In this report, we analyze the diagnostic procedure in three cases of hypokalemic periodic paralysis associated with Graves' disease, diagnosed in three different emergency care units over the last 3 years. Three Caucasian men (26, 30, and 39 years of age) came to the emergency care unit for acute tetraparesia. One of them had suffered 15 stereotypical episodes of tetraparesia during the last 2 years. Goiter was present in each case. Kalemia was 1.8, 2.1, and 3 mmol/l, respectively. Triggering events such as considerable sugar intake and physical exercise were present in two cases. In all cases, low TSH levels, high FT4 levels, and anti-TSH receptor antibodies led to the diagnosis of Graves' disease. All patients were treated with potassium supplementation and neomercazole. Outcome was good with a follow-up of 6, 9, and 24 months, respectively. Emergency care practitioners should be aware of this diagnosis, which may affect Caucasian patients presenting with transient tetraparesia in a primary care unit. PMID:16137557

  1. Venous thrombosis in rare or unusual sites: a diagnostic challenge.

    PubMed

    Girolami, Antonio; Treleani, Martina; Bonamigo, Emanuela; Tasinato, Valentina; Girolami, Bruno

    2014-02-01

    Venous thrombosis usually involves the veins of the limbs, most frequently the leg veins. All other venous districts may sometimes be affected by the thrombotic process. Sometimes, the thrombotic occlusion of the veins of a given region show typical signs and symptoms. In other cases, the picture may not be clear and a high degree of clinical suspicion is needed for a correct approach to patient diagnosis and management. Thrombosis of retinal and jugular veins, right heart thrombosis including thrombosis of coronary sinus and thrombosis of the azygos system may be included in this group. In addition, thromboses of umbilical, renal, ovarian, spermatic, and iliac veins also require attention. Finally, the dorsal veins of the penis may also be affected by thrombotic events. The main clinical features of these thromboses are reviewed herein with suggestions for a correct diagnostic approach. The importance of sonography and of other imaging techniques is emphasized. A prompt diagnosis is of paramount importance as most of these thromboses in rare or unusual sites may still cause severe systemic complications (pulmonary embolism, sepsis, and heart failure). PMID:24347377

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

    PubMed

    Wallace, Andrew J

    2016-09-01

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

  3. 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

  4. Mesenteric ischemia: Pathogenesis and challenging diagnostic and therapeutic modalities.

    PubMed

    Mastoraki, Aikaterini; Mastoraki, Sotiria; Tziava, Evgenia; Touloumi, Stavroula; Krinos, Nikolaos; Danias, Nikolaos; Lazaris, Andreas; Arkadopoulos, Nikolaos

    2016-02-15

    Mesenteric ischemia (MI) is an uncommon medical condition with high mortality rates. ΜΙ includes inadequate blood supply, inflammatory injury and eventually necrosis of the bowel wall. The disease can be divided into acute and chronic MI (CMI), with the first being subdivided into four categories. Therefore, acute MI (AMI) can occur as a result of arterial embolism, arterial thrombosis, mesenteric venous thrombosis and non-occlusive causes. Bowel damage is in proportion to the mesenteric blood flow decrease and may vary from minimum lesions, due to reversible ischemia, to transmural injury, with subsequent necrosis and perforation. CMI is associated to diffuse atherosclerotic disease in more than 95% of cases, with all major mesenteric arteries presenting stenosis or occlusion. Because of a lack of specific signs or due to its sometime quiet presentation, this condition is frequently diagnosed only at an advanced stage. Computed tomography (CT) imaging and CT angiography contribute to differential diagnosis and management of AMI. Angiography is also the criterion standard for CMI, with mesenteric duplex ultrasonography and magnetic resonance angiography also being of great importance. Therapeutic approach of MI includes both medical and surgical treatment. Surgical procedures include restoration of the blood flow with arteriotomy, endarterectomy or anterograde bypass, while resection of necrotic bowel is always implemented. The aim of this review was to evaluate the results of surgical treatment for MI and to present the recent literature in order to provide an update on the current concepts of surgical management of the disease. Mesh words selected include MI, diagnostic approach and therapeutic management. PMID:26909235

  5. Mesenteric ischemia: Pathogenesis and challenging diagnostic and therapeutic modalities

    PubMed Central

    Mastoraki, Aikaterini; Mastoraki, Sotiria; Tziava, Evgenia; Touloumi, Stavroula; Krinos, Nikolaos; Danias, Nikolaos; Lazaris, Andreas; Arkadopoulos, Nikolaos

    2016-01-01

    Mesenteric ischemia (MI) is an uncommon medical condition with high mortality rates. ΜΙ includes inadequate blood supply, inflammatory injury and eventually necrosis of the bowel wall. The disease can be divided into acute and chronic MI (CMI), with the first being subdivided into four categories. Therefore, acute MI (AMI) can occur as a result of arterial embolism, arterial thrombosis, mesenteric venous thrombosis and non-occlusive causes. Bowel damage is in proportion to the mesenteric blood flow decrease and may vary from minimum lesions, due to reversible ischemia, to transmural injury, with subsequent necrosis and perforation. CMI is associated to diffuse atherosclerotic disease in more than 95% of cases, with all major mesenteric arteries presenting stenosis or occlusion. Because of a lack of specific signs or due to its sometime quiet presentation, this condition is frequently diagnosed only at an advanced stage. Computed tomography (CT) imaging and CT angiography contribute to differential diagnosis and management of AMI. Angiography is also the criterion standard for CMI, with mesenteric duplex ultrasonography and magnetic resonance angiography also being of great importance. Therapeutic approach of MI includes both medical and surgical treatment. Surgical procedures include restoration of the blood flow with arteriotomy, endarterectomy or anterograde bypass, while resection of necrotic bowel is always implemented. The aim of this review was to evaluate the results of surgical treatment for MI and to present the recent literature in order to provide an update on the current concepts of surgical management of the disease. Mesh words selected include MI, diagnostic approach and therapeutic management. PMID:26909235

  6. Pediatric intraoral high-flow arteriovenous malformation: a diagnostic challenge.

    PubMed

    Petel, Roy; Ashkenazi, Malka

    2014-01-01

    Arteriovenous malformations (AVMs) are rarely reported in the dental pediatric literature. They may develop adjacent to primary molars and can be life-threatening due to their potential for massive bleeding. The most common symptom associated with documented cases of AVMs is spontaneous gingival bleeding. Other clinical signs include pain, erythematous gingiva, resorption and mobility of teeth, soft tissue discoloration, facial swelling, and asymmetry. Radiographically, AVMs are osteolytic lesions. The purpose of this report was to describe the challenge of diagnosis of a high-flow arteriovenous malformation located in the primary maxillary molar region, which was misdiagnosed as a dentoalveolar abscess adjacent to previously treated primary molars. A decision to extract a tooth with gingival swelling and associated spontaneous bleeding should be made after the differential diagnosis of a vascular malformation has been ruled out. PMID:25303512

  7. Granulicatella elegans endocarditis: a diagnostic and therapeutic challenge.

    PubMed

    Patri, Sandeep; Agrawal, Yashwant

    2016-01-01

    A 63-year-old man with a history of non-ischaemic cardiomyopathy presented with acute worsening of heart failure and septic shock. Echocardiogram revealed a large aortic valve vegetation with new onset severe aortic incompetence. Blood cultures grew Granulicatella elegans, for which antimicrobial sensitivities could not be carried out in our lab. Despite antibiotic therapy and aggressive care, the patient's clinical condition worsened and he died. G. elegans, previously grouped under nutrient variant streptococci (NVS), is an extremely rare cause for bacterial infective endocarditis (IE). Unlike with the Viridans group, IE caused by NVS has a very poor outcome and higher mortality rate. The difficulty in isolation of the bacteria in culture, inability to reliably measure antibiotic susceptibility in vitro, frequent treatment failure and complications such as multivalvular involvement, make this an extremely challenging infection to treat. Early detection of the organism, appropriate antibiotics and early surgical management when indicated, are key to management. PMID:26921367

  8. Diplopia: A Diagnostic Challenge with Common and Rare Etiologies

    PubMed Central

    Alves, Mariana; Miranda, Ana; Narciso, Marco R.; Mieiro, Luis; Fonseca, Teresa

    2015-01-01

    Case series Patient: Male, 71 • Female, 41 • Famale, 67 Final Diagnosis: Diabetic neuropathy • meningioma • drug-induced diplopia Symptoms: Diplopia Medication: — Clinical Procedure: Clinical and imagiologic study Specialty: Ophthalmology Objective: Challenging differential diagnosis Background: Diplopia is a symptom with very different etiologies. It may be caused by pathology in the eye, orbit, extraocular muscles, neuromuscular junction, or in the central nervous system. Case Reports: Three clinical cases of hospitalization due to isolated diplopia are presented here, illustrating different etiologies. Conclusions: The present article aims to address the differential diagnosis of this clinical condition and to warn of less frequent causes of diplopia, such as adverse effects of commonly used drugs. PMID:25865898

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

    PubMed Central

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

    2015-01-01

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

  10. 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. PMID:25868053

  11. 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

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

    PubMed

    Hollak, Carla E M; Wijburg, Frits A

    2014-07-01

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

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

    PubMed

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

    2016-01-26

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

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

    PubMed

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

    2013-01-01

    Dioxins are ubiquitous environmental challenges to humans, with a pervasiveness that arises from 200 years of rapid industrialization and mechanization of Western societies and which is now extending into the developing world. In spite of their penetrance of the human biota, these compounds are poorly understood in terms of their true physiological potential for harm, and the mechanisms by which they impact cellular and organ level function are only recently becoming clear. Emerging awareness that chronic exposures to toxins may have generational and subtle effects on the outcomes of diseases such as cancer and diabetes, which are already multifactorial and highly complex, creates the context for the current review paper. Here, we summarize dioxin exposure paradigms and the resulting physiological effects that have been documented in animals and humans. Novel insights into potential endogenous end exogenous ligands, as well as the mechanisms by which these ligands impact acute and chronic cellular processes, are discussed. We develop the idea that the diagnosis of dioxin exposure, the subtleties of the cellular effects of the compounds and prognosis of the long-term effects of exposure are problems requiring that researchers leverage the power of genomics and epigenetics. However, the continuation of longitudinal epidemiological studies and the development of a firmer basis from which to extrapolate animal studies will be critical in ensuring optimal insight from these resource-intensive techniques. PMID:22610997

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed

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

    2015-10-01

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

  17. What is the rational diagnostic approach to spinal disorders?

    PubMed

    Dudler, Jean; Balagué, Federico

    2002-01-01

    A problem that is encountered in patients with low back pain is that a definite diagnosis is rare. The heart of our clinical dilemma is how best to diagnose those rare patients with severe disease as early as possible. The main reasons for diagnostic errors have been summarized in this chapter. Numerous guidelines have been developed to help in the approach to this difficult problem. However, the limitations of such an approach are highlighted. History and clinical examination are the best single test for diagnostic purposes and neither questionnaires nor computers can replace the clinician. However, the values of clinical abilities should not be overestimated. Finally, the clinical application of guidelines needs to be re-evaluated for each individual patient. PMID:11987931

  18. 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. PMID:25248009

  19. [Importance of sonography in the diagnostics of functional disorders of the female pelvic floor].

    PubMed

    Albrich, S; Bauer, R M; Haberer, E; Skala, C; Naumann, G

    2013-04-01

    Ultrasound now plays an indispensible role in urogynecological diagnostics. Sonographic imaging of the female pelvic floor allows depiction of the urethra, bladder neck, bladder, anorectum and the levator ani muscle and is currently an important clinical component for the diagnostics of functional disorders in the region of the female pelvic floor. Essential aspects in sonography of the female pelvic floor are the dynamic depiction and direct imaging of alloplastic implants. For these reasons sonographic imaging is of great clinical importance especially for the diagnostics of recurrent or postoperative complications. A further important factor which supports the success of ultrasound in the diagnostics of functional disorders of the female pelvic floor is the wide availability of ultrasound devices in patient care. Furthermore, the method is noninvasive, comparatively inexpensive and does not involve radiation. PMID:23483273

  20. Diagnostic and Management Approach to Common Sleep Disorders During Pregnancy

    PubMed Central

    Jones, Christopher R.

    2013-01-01

    The significance for maternal and fetal health of gestational Obstructive Sleep Apnea, Primary Insomnia, Restless Legs Syndrome, & Narcolepsy are summarized. The pathophysiology, signs, symptoms, and basic Sleep Medicine concepts that assist the obstetrician in suspecting these four conditions are described. Where appropriate, initial management options are also outlined. Referral guidelines to a Sleep Medicine specialist are included when further diagnostic, severity assessment, and management suggestions are needed. PMID:23563879

  1. Oesophageal Foreign Bodies--from Diagnostic Challenge to Therapeutic Dilemma.

    PubMed

    Predescu, Dragoş; Predescu, Irina; Sarafoleanu, Codruţ; Constantinoiu, Silviu

    2016-01-01

    Ingestion of foreign bodies, common in the emergency services, remains a challenge for physicians despite preventive measures and technical progress due to the frequency and possible complications, serious complications that can darken vital prognosis or may be a source of remote morbidity. Clinical experience at "St. Mary" Hospital included, between 2000-2015, 39 patients diagnosed with FB ingestion, of which 26 fixed in the oesophagus, with the remaining 13 having spontaneously progressed along the digestive tract (5 recovered from the stomach, 6 naturally evacuated, and 2 cases with colic perforation). Oesophageal foreign bodies occur consecutively to (in)voluntary ingestion, the vast majority of them passing unnoticed. The most frequently encountered types are coins, batteries, needles, various sharps objects, food, bone fragments, cartilages, pieces of plastic, glass, etc., FB impaction at oesophageal level being usually conditioned by the 3 anatomical narrowings. Typically, FB ingestion occurs at extreme ages, 60% of patients being pre-school children (<6 years), with an even higher percentage--between 70-80% between 6 months and 2 years of age--and only 15% elderly, frequently edentulous. Usual clinical signs, in the absence of complications, are: dysphagia, hypersialorrhoea, low cervical and/or chest strain, sometimes vomiting. Not at all infrequently (30%!), we notice the absence of any sign. Alarming manifestations, which indicate the development of complications, are pyrexia, general physical health deterioration, pain (with vertebral/interscapular projection), pulping, subcutaneous cervical emphysema. Diagnosis via various imaging methods (simple radiography, barium swallow, CT, MRI) remains the essential link in identifying the lesion and establishing a therapeutic approach. Endoscopic evaluation (rigid or flexible) is mandatory, also allowing therapeutic gestures. In terms of progression, 80-90% of FB pass into the stomach, being eliminated naturally

  2. Early-Onset Bipolar Spectrum Disorders: Diagnostic Issues

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  3. Consensus diagnostic criteria for fetal alcohol spectrum disorders in Australia: a modified Delphi study

    PubMed Central

    Watkins, Rochelle E; Elliott, Elizabeth J; Mutch, Raewyn C; Payne, Janet M; Jones, Heather M; Latimer, Jane; Russell, Elizabeth; Fitzpatrick, James P; Hayes, Lorian; Burns, Lucinda; Halliday, Jane; D'Antoine, Heather A; Wilkins, Amanda; Peadon, Elizabeth; Miers, Sue; Carter, Maureen; O'Leary, Colleen M; McKenzie, Anne; Bower, Carol

    2012-01-01

    Objective To evaluate health professionals' agreement with components of published diagnostic criteria for fetal alcohol spectrum disorders (FASD) in order to guide the development of standard diagnostic guidelines for Australia. Design A modified Delphi process was used to assess agreement among health professionals with expertise or experience in FASD screening or diagnosis. An online survey, which included 36 Likert statements on diagnostic methods, was administered over two survey rounds. For fetal alcohol syndrome (FAS), health professionals were presented with concepts from the Institute of Medicine (IOM), University of Washington (UW), Centers for Disease Control (CDC), revised IOM and Canadian diagnostic criteria. For partial FAS (PFAS), alcohol-related neurodevelopmental disorder (ARND), and alcohol-related birth defects (ARBD), concepts based on the IOM and the Canadian diagnostic criteria were compared. Setting/participants 130 Australian and 9 international health professionals. Results Of 139 health professionals invited to complete the survey, 103 (74.1%) responded, and 74 (53.2%) completed one or more questions on diagnostic criteria. We found consensus agreement among participants on the diagnostic criteria for FAS, with the UW criteria most commonly endorsed when compared with all other published criteria for FAS. When health professionals were presented with concepts based on the Canadian and IOM diagnostic criteria, we found consensus agreement but no clear preference for either the Canadian or IOM criteria for the diagnosis of PFAS, and no consensus agreement on diagnostic criteria for ARND. We also found no consensus on the IOM diagnostic criteria for ARBD. Conclusions Participants indicated clear support for use of the UW diagnostic criteria for FAS in Australia. These findings should be used to develop guidelines to facilitate improved awareness of, and address identified gaps in the infrastructure for, FASD diagnosis in Australia. PMID

  4. Challenges in Evaluating the Cost-effectiveness of New Diagnostic Tests for HIV-Associated Tuberculosis

    PubMed Central

    Andrews, Jason R.; Lawn, Stephen D.; Dowdy, David W.; Walensky, Rochelle P.

    2013-01-01

    With an emerging array of rapid diagnostic tests for tuberculosis, cost-effectiveness analyses are needed to inform scale-up in various populations and settings. Human immunodeficiency virus (HIV)–associated tuberculosis poses unique challenges in estimating and interpreting the cost-effectiveness of novel diagnostic tools. First, gains in sensitivity and specificity do not directly correlate with impact on clinical outcomes. Second, the cost-effectiveness of implementing tuberculosis diagnostics in HIV-infected populations is heavily influenced by downstream costs of HIV care. As a result, tuberculosis diagnostics may appear less cost-effective in this population than among HIV-uninfected individuals, raising important ethical and policy questions about the design and interpretation of cost-effectiveness analyses in this setting. Third, conventional cost-effectiveness benchmarks may be inadequate for making decisions about whether to adopt new diagnostics. If we are to appropriately deploy novel diagnostics for tuberculosis to people living with HIV in resource-constrained settings, these challenges in measuring cost-effectiveness must be more widely recognized and addressed. PMID:23788239

  5. 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…

  6. Major affective disorder in anorexia nervosa and bulimia. A descriptive diagnostic study.

    PubMed

    Laessle, R G; Kittl, S; Fichter, M M; Wittchen, H U; Pirke, K M

    1987-12-01

    DSM-III lifetime diagnoses were assessed in 52 patients with a lifetime history of anorexia nervosa or bulimia by means of a standardised diagnostic interview. It was found that 44.2% had a lifetime diagnosis of DSM-III major affective disorder, with abstaining anorectics having a lower rate of depression than those with bulimic symptoms. In the great majority of cases, the onset of affective disorder post-dated the onset of the eating disorder by at least one year. In patients whose eating disorder was in remission, the rate of depressive symptoms was lower than in those in the acute stage of their illness. These findings, combined with recent studies on biological changes in eating disorders, and psychological theories of depression, suggest that in most cases in which the two conditions are associated, the depression is secondary to the eating disorder. PMID:3502805

  7. 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…

  8. 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. PMID:24983300

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

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  10. Developing epigenetic diagnostics and therapeutics for brain disorders

    PubMed Central

    Qureshi, Irfan A.; Mehler, Mark F.

    2013-01-01

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

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

    PubMed

    Vocks, Silja; Bauer, Anika

    2015-01-01

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

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

    PubMed

    Knight, Raymond A

    2010-04-01

    There is a proposal to establish a paraphilic coercive disorder as a new paraphilia in the DSM-V. The empirical data do not, however, support the hypothesis that a distinct syndrome exists that comprises males who are sexually aroused by the coercive elements of rape per se. Purported evidence for this syndrome has centered on the results of phallometric studies. Higher plethysmographic responses of rapists to coercive rape scenarios may, however, be better explained by the failure of coercive elements to inhibit arousal to sexual aspects of the stimuli rather than by arousal specifically to the coercive elements. In addition, sexual fantasies about forcing sex and about struggling victims are highly correlated with sadistic fantasies and have not been shown to identify a syndrome that can be discriminated from sadism. Finally, taxometric evidence strongly supports the hypothesis that the underlying components of rape are distributed as dimensions and do not constitute a separate taxon. Consequently, the criteria purported to categorize rapists into the proposed syndrome would have to be arbitrarily determined. Not only does there seem to be little empirical justification for the creation of this new syndrome, the inclusion of this disorder among the paraphilias would have serious potential for misuse. It would imply endorsement of Paraphilia, NOS, nonconsent, which is currently inappropriately employed in civil commitment proceedings to justify commitment. PMID:19888645

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

    PubMed Central

    2013-01-01

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

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

    ERIC Educational Resources Information Center

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

    2009-01-01

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

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

    ERIC Educational Resources Information Center

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

    2007-01-01

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

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

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  17. 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…

  18. 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…

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

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

    ERIC Educational Resources Information Center

    Couch, Janet Beaujon

    1994-01-01

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

  1. 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…

  2. 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.…

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

    ERIC Educational Resources Information Center

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

    2004-01-01

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

  4. 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. PMID:22913501

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

    PubMed Central

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

    2011-01-01

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

  6. Post-traumatic stress disorder: some diagnostic and clinical issues.

    PubMed

    Creamer, M

    1989-12-01

    The development of post-traumatic stress disorder (PTSD) in a group of 42 individuals exposed to a multiple homicide was examined. A comparison of DSM-III and DSM-III-R indicated that 74% qualified for a diagnosis of PTSD using DSM-III, but only 33% met the criteria outlined in DSM-III-R. The most commonly reported symptoms were found to be intrusive recollections of the event and exaggerated startle response. In general, those symptoms that are new additions in the revised version were the least frequently reported, whilst guilt, which has been excluded from DSM-III-R, was experienced by 38% of the sample. It is suggested that the new criteria may not cluster with the core syndrome of PTSD. PMID:2610651

  7. Novel diagnostics and therapy of colonic motor disorders.

    PubMed

    Dinning, P G; Scott, S M

    2011-12-01

    Colonic motor abnormalities are implicated in several gastrointestinal disorders including constipation, irritable bowel syndrome and functional diarrhoea. Defining the colonic abnormalities is difficult and several novel techniques including, high-resolution fibre optic manometry, wireless motility capsules, ultrasound and magnetic resonance imaging have emerged to help in the diagnosis of these conditions. Coupled with the developing techniques are the novel treatments that look to restore normal colonic motility. These treatments include pharmacological agents (pharmabiotics, serotonin agonist, secretagogues) and medical devices (sacral nerve stimulation, transcutaneous electrical stimulation and biofeedback). This review summarizes the novel techniques used to record and define colonic motor abnormalities and the current status of the emerging treatments used to treat them. PMID:22019567

  8. Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders.

    PubMed

    Santavuori, P; Vanhanen, S L; Autti, T

    2001-01-01

    Early diagnosis is mandatory for avoiding further cases in families with hereditary metabolic brain disorders. This review lists the most important clinical symptoms and neuroradiological findings at the early stage of the seven most common childhood neuronal ceroid lipofuscinoses (NCL) types. In the infantile type the typical magnetic resonance imaging (MRI) findings can be seen even before the clinical signs. In the classic late infantile type (CLN2), MRI is less informative but in this and in the variant late infantile type CLN6 the characteristic neurophysiological findings are present at an early stage, although not in the Finnish variant CLN5. In the latter, the clinical diagnosis depends on ophthalmological and MRI findings. The combination of ophthalmological deficits and vacuolated lymphocytes is highly characteristic of the juvenile type (CLN3). A new NCL type, Northern epilepsy (CLN8), is also briefly reviewed. PMID:11588989

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

    PubMed

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

    2012-07-01

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

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

    PubMed Central

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

    2011-01-01

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

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

    PubMed

    Linden, Michael; Muschalla, Beate

    2012-09-01

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

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

    PubMed Central

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

    2014-01-01

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

  13. Application of diagnostic and treatment criteria for common variable immunodeficiency disorder.

    PubMed

    Ameratunga, Rohan; Storey, Peter; Barker, Russell; Jordan, Anthony; Koopmans, Wikke; Woon, See-Tarn

    2016-03-01

    Common variable immunodeficiency disorder (CVID) is the most frequent symptomatic primary immune deficiency disorder in adults. It probably comprises a spectrum of polygenic disorders, with hypogammaglobulinemia being the overarching feature. While the majority of patients with CVID can be identified with relative ease, a significant proportion can present with minimal symptoms in spite of profound laboratory abnormalities. Here we discuss three patients who were presented to the Auckland Hospital immunoglobulin treatment committee to determine if they qualified for immunoglobulin replacement. Two were asymptomatic with profound laboratory abnormalities while the third patient was severely ill with extensive bronchiectasis. The third patient had less severe laboratory abnormalities compared with the two asymptomatic patients. We have applied four sets of published diagnostic and treatment criteria to these patients to compare their clinical utility. We have chosen these patients from the broad phenotypic spectrum of CVID, as this often illustrates differences in diagnostic and treatment criteria. PMID:26623716

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

    ERIC Educational Resources Information Center

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

    2013-01-01

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

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

    PubMed

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

    2015-12-01

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

  16. 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…

  17. 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. PMID:25133142

  18. 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.

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

    PubMed

    Loeffelholz, Michael; Fofanov, Yuriy

    2015-01-01

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

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

    PubMed

    Halim, Abdel-Baset

    2015-06-01

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

  1. 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…

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

    PubMed

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

    2015-09-01

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

  3. 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

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

    PubMed

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

    2016-06-01

    Abnormal protein glycosylation is observed in many common disorders like cancer, inflammation, Alzheimer's disease and diabetes. However, the actual use of this information in clinical diagnostics is still very limited. Information is usually derived from analysis of total serum N-glycan profiling methods, whereas the current use of glycoprotein biomarkers in the clinical setting is commonly based on protein levels. It can be envisioned that combining protein levels and their glycan isoforms would increase specificity for early diagnosis and therapy monitoring. To establish diagnostic assays, based on the mass spectrometric analysis of protein-specific glycosylation abnormalities, still many technical improvements have to be made. In addition, clinical validation is equally important as well as an understanding of the genetic and environmental factors that determine the protein-specific glycosylation abnormalities. Important lessons can be learned from the group of monogenic disorders in the glycosylation pathway, the Congenital Disorders of Glycosylation (CDG). Now that more and more genetic defects are being unraveled, we start to learn how genetic factors influence glycomics profiles of individual and total serum proteins. Although only in its initial stages, such studies suggest the importance to establish diagnostic assays for protein-specific glycosylation profiling, and the need to look beyond the single glycoprotein diagnostic test. Here, we review progress in and lessons from genetic disease, and review the increasing opportunities of mass spectrometry to analyze protein glycosylation in the clinical diagnostic setting. Furthermore, we will discuss the possibilities to expand current CDG diagnostics and how this can be used to approach glycoprotein biomarkers for more common diseases. PMID:26739145

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

    ERIC Educational Resources Information Center

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

    2013-01-01

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

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

    ERIC Educational Resources Information Center

    Brown, Jason D.; Bednar, Lisa M.

    2004-01-01

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

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

    PubMed Central

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

    2008-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  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. 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…

  12. [Sleep and sleep disorders in the elderly: Part 1: epidemiology and diagnostics].

    PubMed

    Frohnhofen, H; Schlitzer, J

    2014-08-01

    Restorative sleep is an important factor for well-being, performance and quality of life. The basic diagnostic procedure of a sleep disorder is to take a comprehensive sleep history. Sleep disorders can and must be distinguished from the physiological changes of sleep in the elderly. Insomnia (difficulty in sleeping), daytime sleepiness (hypersomnia), sleep-related breathing disorders (SRBD) and movement disorders during sleep are also common in the elderly. They must be detected because they are treatable and can dominate the clinical picture of geriatric syndromes. Nursing home residents and dementia patients are in particular need of attention as their sleep is often adversely affected by the living environment and the daily institutional routine. PMID:25117857

  13. Factorial structure and diagnostic efficiency of DSM-IV criteria for avoidant personality disorder in patients with binge eating disorder.

    PubMed

    Grilo, Carlos M

    2004-10-01

    This study examined the factorial structure and diagnostic efficiency of the DSM-IV criteria for avoidant personality disorder (AVPD). Two hundred and twenty-eight consecutive outpatients (181 females and 47 males) with a primary diagnosis of binge eating disorder were reliably assessed with diagnostic interviews. Internal consistency of AVPD criteria was good, as suggested by coefficient alpha of 0.87, the pattern of inter-item correlations (range 0.41 to 0.64), and the lack of changes in alpha if any criteria are deleted. Exploratory factor analysis revealed a one-factor solution (56% of variance) supporting the unidimensionality of the AVPD criteria. Diagnostic efficiency indices (conditional probabilities, total predictive power, and kappa coefficients) were calculated for each AVPD criterion, for the entire study group and separately by gender. Overall, the best inclusion criterion was 'fears being ridiculed,' which was also the best predictor overall. These psychometric findings did not differ by gender. The findings support certain important aspects of the AVPD diagnosis. PMID:15350855

  14. '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. PMID:20418338

  15. Substance Use Disorders and Anxiety: A Treatment Challenge for Social Workers

    PubMed Central

    Brady, Kathleen T.; Haynes, Louise F.; Hartwell, Karen J.; Killeen, Therese K.

    2013-01-01

    Converging evidence from epidemiologic and treatment studies indicate that anxiety disorders and substance use disorders commonly co-occur, and the interaction is multifaceted and variable. Epidemiological studies and investigations within clinical substance abuse populations have found an association between anxiety disorders and substance use disorders. Specific anxiety disorders including generalized anxiety disorder, panic disorder, and post traumatic stress disorder have all been associated with substance use. The association with obsessive–compulsive disorder is less robust, and some research has found a negative association. The risk of nicotine dependence is significantly higher among individuals with an anxiety disorder, and conversely, smoking has been found to be associated with trait anxiety and anxiety disorders. A review of the current literature and the relationship between specific anxiety disorders and alcohol and substance use disorders is discussed in detail. This article, written for social workers in a variety of practice settings, reviews the prevalence, diagnostic, and treatment issues at the interface of substance use disorders and anxiety disorders. PMID:23731428

  16. 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. PMID:26861716

  17. [Dermatitis artefacta (factitial dermatitis)--an interdisciplinary diagnostic and therapeutic challenge].

    PubMed

    Körber, A; Grabbe, S; Dissemond, J

    2006-03-16

    Factitial cutaneous lesions result from self-inflicted injury leading to objectifiable clinically relevant damage to the skin. Triggering factors are frequently psychiatric disorders or specific stress situations. Clinical manifestations range from superficial erosions to deep wounds.The establishment of the diagnosis is often a time-consuming and complicated process that precedes acceptance of the underlying pathology by both the therapist and patient. If lasting therapeutic success is to be achieved, the possibility of such cutaneous lesions must be included in differential diagnostic considerations, and early interdisciplinary cooperation is necessary. PMID:16612964

  18. 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. PMID:23143130

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

    PubMed

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

    2016-01-01

    One change to the posttraumatic stress disorder (PTSD) nomenclature highlighted in the Diagnostic and Statistical Manual, 5th Edition (DSM-5; American Psychiatric Association, 2013) is the conceptualization of PTSD as a diagnostic category with four distinct symptom clusters. This article presents exploratory factor analysis to test the structural validity of the DSM-5 conceptualization of PTSD via an online survey that included the PTSD Checklist-5. The study utilized a sample of 113 college students from a large Midwestern university and 177 Amazon Mechanical Turk users. Participants were primarily female, Caucasian, single, and heterosexual with an average age of 32 years. Approximately 30% to 35% of participants met diagnostic criteria for PTSD based on two different scoring criteria. Results of the exploratory factor analysis revealed five distinct symptom clusters. The implications for the classification of PTSD are discussed. PMID:26669983

  20. 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

  1. 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

  2. International survey of diagnostic services for children with Fetal Alcohol Spectrum Disorders

    PubMed Central

    Peadon, Elizabeth; Fremantle, Emily; Bower, Carol; Elliott, Elizabeth J

    2008-01-01

    Background Early diagnosis and intervention for children with Fetal Alcohol Spectrum Disorder (FASD) reduces the risk of developing a range of secondary social, emotional and behavioural problems and provides an opportunity for prevention of further alcohol exposed pregnancies. The objective of this study was to describe specialist clinical service provision for the diagnosis and assessment of children exposed to alcohol in pregnancy. Methods Fetal Alcohol Spectrum Disorder (FASD) diagnostic clinics were identified through literature and internet searches. Clinics were sent a questionnaire asking for information on the clinic population, clinic staff, assessment process and other services provided. Results Questionnaires were completed for 34 clinics: 29 were in North America, 2 in Africa, 2 in Europe and 1 in South America. No clinics were identified in Asia or Australasia. There was a variety of funding sources, services offered, clinic populations, staff and methods of assessment. Thirty-three clinics had a multi-disciplinary team. In 32 clinics, at least one member of the team had specialist training in assessment of FASD. Neurobehavioural assessment was completed in 32 clinics. Eleven clinics used more than one set of diagnostic criteria or an adaptation of published criteria. Conclusion Diagnostic services are concentrated in North America. Most responding clinics are using a multidisciplinary approach with neurobehavioural assessment as recommended in published guidelines. Agreement on diagnostic criteria would enable comparison of clinical and research data, and enhance FASD research particularly for intervention trials. PMID:18412975

  3. Diagnostic Prediction for Social Anxiety Disorder via Multivariate Pattern Analysis of the Regional Homogeneity

    PubMed Central

    Zhang, Wenjing; Yang, Xun; Lui, Su; Meng, Yajing; Yao, Li; Xiao, Yuan; Deng, Wei; Zhang, Wei; Gong, Qiyong

    2015-01-01

    Although decades of efforts have been spent studying the pathogenesis of social anxiety disorder (SAD), there are still no objective biological markers that could be reliably used to identify individuals with SAD. Studies using multivariate pattern analysis have shown the potential value in clinically diagnosing psychiatric disorders with neuroimaging data. We therefore examined the diagnostic potential of regional homogeneity (ReHo) underlying neural correlates of SAD using support vector machine (SVM), which has never been studied. Forty SAD patients and pairwise matched healthy controls were recruited and scanned by resting-state fMRI. The ReHo was calculated as synchronization of fMRI signals of nearest neighboring 27 voxels. A linear SVM was then adopted and allowed the classification of the two groups with diagnostic accuracy of ReHo that was 76.25% (sensitivity = 70%, and specificity = 82.5%, P ≤ 0.001). Regions showing different discriminating values between diagnostic groups were mainly located in default mode network, dorsal attention network, self-referential network, and sensory networks, while the left medial prefrontal cortex was identified with the highest weight. These results implicate that ReHo has good diagnostic potential in SAD, and thus may provide an initial step towards the possible use of whole brain local connectivity to inform the clinical evaluation. PMID:26180811

  4. 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

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

    PubMed

    Mehta, Shubham

    2015-02-24

    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. Fine-needle aspiration cytology of soft tissue lesions: diagnostic challenges.

    PubMed

    Domanski, Henryk A

    2007-12-01

    Clinical and radiographic data provide important information in the evaluation of soft tissue lesions/neoplasms. Morphologic tissue and cytologic examination is considered to be a necessary part of the diagnostic work-up. The standard procedure for obtaining tumor tissue for morphologic evaluation has been incisional (open) or core needle biopsy. An increasing use of minimally invasive diagnostic procedures has resulted in better acceptance of fine-needle aspiration cytology (FNAC) in the diagnosis of soft tissue lesions. This article discusses challenges in FNAC of soft tissue lesions based on the experience at a multidisciplinary referral sarcoma center. Obtaining sufficient specimens from deeply seated small and necrotic/cystic lesions is technically a potential pitfall and misdiagnosis of cells from reactive zones surrounding the tumor as well as the correct evaluation of spindle cell lesions, rare soft tissue neoplasms, and "new entities" lacking reproducible cytological criteria are other important challenges in FNAC of soft tissues. The successful cytological evaluation of soft tissue lesions requires the application of strict, reproducible morphological criteria in the context of the clinical findings as well as ancillary techniques. The minimal criteria for diagnostic intervention in various clinical settings and the relative advantages and disadvantages of FNAC must be understood. FNAC of soft tissue lesions is facilitated when limited to specialized orthopedic-oncologic centers with a well-integrated multidisciplinary team and experience in the evaluation and therapy of soft tissue lesions. PMID:18008345

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

    PubMed

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

    2015-10-01

    Psychiatric disorders are increasingly being recognised as having a biological basis, but their diagnosis is made exclusively behaviourally. A promising approach for 'biomarker' discovery has been based on pattern recognition methods applied to neuroimaging data, which could yield clinical utility in future. In this review we survey the literature on pattern recognition for making diagnostic predictions in psychiatric disorders, and evaluate progress made in translating such findings towards clinical application. We evaluate studies on many criteria, including data modalities used, the types of features extracted and algorithm applied. We identify problems common to many studies, such as a relatively small sample size and a primary focus on estimating generalisability within a single study. Furthermore, we highlight challenges that are not widely acknowledged in the field including the importance of accommodating disease prevalence, the necessity of more extensive validation using large carefully acquired samples, the need for methodological innovations to improve accuracy and to discriminate between multiple disorders simultaneously. Finally, we identify specific clinical contexts in which pattern recognition can add value in the short to medium term. PMID:26254595

  8. Management challenges in a case of gender identity disorder

    PubMed Central

    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. PMID:25788806

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

    PubMed

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

    2016-04-01

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

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

    ERIC Educational Resources Information Center

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

    2009-01-01

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

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

    ERIC Educational Resources Information Center

    Murphy, Olivia; Healy, Olive; Leader, Geraldine

    2009-01-01

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

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

    PubMed

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

    2010-08-16

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

  13. 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,…

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

    PubMed

    Fassino, Secondo; Abbate-Daga, Giovanni

    2013-01-01

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

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

    ERIC Educational Resources Information Center

    Pei, Jacqueline; Rinaldi, Christina

    2004-01-01

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

  16. Epidemiology of first-episode psychosis: illustrating the challenges across diagnostic boundaries through the Cavan-Monaghan study at 8 years.

    PubMed

    Baldwin, Patrizia; Browne, David; Scully, Paul J; Quinn, John F; Morgan, Maria G; Kinsella, Anthony; Owens, John M; Russell, Vincent; O'Callaghan, Eadbhard; Waddington, John L

    2005-07-01

    The epidemiology of first-episode psychosis is poorly understood because of the paucity of systematic studies, yet it constitutes the fundamental basis for understanding the disorder and the foundations on which clinical, biological, therapeutic, and long-term outcome studies are built. A particular need is to clarify the diagnostic breadth of first-episode psychosis and, on this basis, to undertake systematic comparisons across representative populations of the psychoses, to include comparisons with first-episode mania. Considered here is the new generation of prospective studies that may be able to inform in some way on these issues. Attainment of the above goals requires prolonged accrual of "all" cases of nonaffective, affective, and any other psychotic illness, including first-episode mania, to derive the required representative populations. To illustrate some of the challenges, the structure of the Cavan-Monaghan prospective first episode study is described and its interim findings are outlined, as rural Ireland provides psychiatric care based on strict catchment areas and is characterized by substantive ethnic and socioeconomic homogeneity and stability. It is argued that there are 3 primary diagnostic nodes (schizophrenia spectrum psychosis, bipolar disorder, and major depressive disorder with psychotic features) around which there exist numerous additional, overlapping, and well-populated diagnostic categories that are distinct only in terms of their operational definition. Only through systematic, epidemiologically based studies that access this intrinsic diversity are we likely to understand fully the origins and pathobiology of first-episode psychosis. PMID:15944446

  17. Behavioral Response Inhibition in Psychotic Disorders: Diagnostic Specificity, Familiality and Relation to Generalized Cognitive Deficit

    PubMed Central

    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.

    2014-01-01

    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. PMID:25261042

  18. [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. PMID:26638468

  19. 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

  20. 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

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

    PubMed Central

    Kravvas, G.; Veitch, D.

    2016-01-01

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

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

    PubMed

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

    2016-07-01

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

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

    PubMed Central

    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 (R2 =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. PMID:25642046

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

    PubMed Central

    2013-01-01

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

  5. Phenotypic Overlap between Core Diagnostic Features and Emotional/Behavioral Problems in Preschool Children with Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Georgiades, Stelios; Szatmari, Peter; Duku, Eric; Zwaigenbaum, Lonnie; Bryson, Susan; Roberts, Wendy; Fombonne, Eric; Mirenda, Pat; Smith, Isabel; Vaillancourt, Tracy; Volden, Joanne; Waddell, Charlotte; Thompson, Ann

    2011-01-01

    This study examined the phenotypic overlap between core diagnostic features and emotional/behavioral problems in a sample of 335 preschool children with autism spectrum disorder (ASD). Results from principal component analysis (2 components; 49.70% variance explained) suggested substantial phenotypic overlap between core diagnostic features and…

  6. JAK2 V617F in Myeloid Disorders: Molecular Diagnostic Techniques and Their Clinical Utility

    PubMed Central

    Steensma, David P.

    2006-01-01

    In early 2005, several groups of investigators studying myeloid malignancies described a novel somatic point mutation (V617F) in the conserved autoinhibitory pseudokinase domain of the Janus kinase 2 (JAK2) protein, which plays an important role in normal hematopoietic growth factor signaling. The V617F mutation is present in blood and marrow from a large proportion of patients with classic BCR/ABL-negative chronic myeloproliferative disorders and of a few patients with other clonal hematological diseases such as myelodysplastic syndrome, atypical myeloproliferative disorders, and acute myeloid leukemia. The JAK2 V617F mutation causes constitutive activation of the kinase, with deregulated intracellular signaling that mimics continuous hematopoietic growth factor stimulation. Within 7 months of the first electronic publication describing this new mutation, clinical molecular diagnostic laboratories in the United States and Europe began offering JAK2 mutation testing on a fee-for-service basis. Here, I review the various techniques used by research groups and clinical laboratories to detect the genetic mutation underlying JAK2 V617F, including fluorescent dye chemistry sequencing, allele-specific polymerase chain reaction (PCR), real-time PCR, DNA-melting curve analysis, pyrosequencing, and others. I also discuss diagnostic sensitivity, performance, and other practical concerns relevant to the clinical laboratorian in addition to the potential diagnostic utility of JAK2 mutation tests. PMID:16931578

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

    PubMed

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

    2016-05-01

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

  9. 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

  10. 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. PMID:24764215

  11. Validity of the Research Diagnostic Criteria for Temporomandibular Disorders Axis I in clinical and research settings.

    PubMed

    Steenks, Michel H; de Wijer, Anton

    2009-01-01

    The lack of standardized diagnostic criteria for defining clinical subtypes of temporomandibular disorders (TMD) was the main motive to create the Research Diagnostic Criteria for TMD (RDC/TMD), which were provided to allow standardization and replication of research into the most common forms of muscle- and joint-related TMD. The RDC/TMD offered improvement compared to the older literature: the use of one system classifying TMD subgroups and the introduction of a dual-axis classification. The aim of this Focus Article is to appraise the RDC/TMD Axis I (physical findings). Since the original publication in 1992, no modification of the RDC/TMD has taken place, although research has yielded important new findings. The article outlines several concerns, including diagnostic issues in Axis I, classification criteria, feasibility of palpation sites, the myofascial diagnostic algorithm, the lack of joint tests (compression, traction), and missing subgroups. Using a gold standard examiner may improve calibration and offer better reliability; it does not improve any of the diagnostic validity issues. It is also noted that in the 2004 mission statement of the International Consortium For RDC/TMD-Based Research, the RDC/TMD are also advocated for clinical settings. Clinicians may eagerly embrace the RDC/TMD, believing that the clinical use of the RDC/TMD as a diagnostic procedure is already supported by evidence, but its application is not indicated in clinical settings. The article concludes that given the research developments, there is a need to update the RDC/TMD Axis I in the clinical research setting. PMID:19264032

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

    PubMed Central

    Mishima, Kenji; Saito, Ichiro; Kusama, Kaoru

    2009-01-01

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

  13. 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

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

    PubMed

    Parnas, Josef; Jansson, Lennart B

    2015-01-01

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

  15. 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…

  16. SCID-PANSS: two-tier diagnostic system for psychotic disorders.

    PubMed

    Kay, S R; Opler, L A; Spitzer, R L; Williams, J B; Fiszbein, A; Gorelick, A

    1991-01-01

    The SCID-PANSS was developed as a two-tier diagnostic system for psychotic disorders to supplement categorical diagnosis with functional-dimensional assessment. The procedure combines the DSM-III-R Structured Clinical Interview and Rating Criteria (SCID) with those from the Positive and Negative Syndrome Scale (PANSS). The comprehensive 50- to 60-minute interview yields diagnostic classification, plus a profile of 30 symptoms and 10 dimensional scales, including positive and negative syndromes, depression, thought disturbance, and severity of illness. A study of 34 psychotic inpatients assessed by five psychiatrists showed strong interrater correlations (0.85 to 0.97 for summary scales, P less than .0001), supporting the reliability of the SCID-PANSS for clinical and research applications. PMID:1935026

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

    PubMed

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

    1991-11-01

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

  18. 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

  19. Observations of basic diagnostic profile patterns seen in some common disorders of backyard poultry species.

    PubMed

    Speer, B L

    1999-09-01

    Poultry species--chickens, ducks, geese--are becoming increasingly popular as pets. As such, requests for accurate diagnoses and treatment are being received by the veterinary community from the public. Unlike the food animal and production-oriented aspects of poultry medicine, success with these pet birds is contingent on preserving the human-pet bird bond, as defined by the individual client. This article presents some of this author's observations in diagnostic profiles on some selected disorders of backyard poultry. PMID:11229050

  20. 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. PMID:20682430

  1. 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…

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

    PubMed Central

    2013-01-01

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

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

    PubMed Central

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

    2015-01-01

    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. PMID:26243853

  4. 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…

  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. PMID:26707822

  6. 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. PMID:26915017

  7. Recognition and diagnostic approach to acute metabolic disorders in the neonatal period

    PubMed Central

    Mohamed, Sarar

    2011-01-01

    Inborn errors of metabolism (IEM) constitute a group of inherited disorders that cause significant neonatal morbidity and mortality. This diverse group of diseases present with different clinical manifestations that make the diagnosis a real challenge. Early detection and appropriate investigations prevent complications and save lives. The aim of this review is to enable general paediatricians to clinically recognize IEM and plan relevant investigations at the appropriate time in a cost-effective manner, especially in countries where resources are limited.

  8. 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…

  9. 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…

  10. Carers' Experiences of Being Exposed to Challenging Behaviour in Services for Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Butrimaviciute, Rasa; Grieve, Alan

    2014-01-01

    Previous studies have demonstrated that being exposed to challenging behaviour in services of care can have a negative impact on staff. Recently, challenging behaviour has been linked to people with autism spectrum disorders; however, little research has been aimed at exploring staff's experiences of facing such behaviour in services for…

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

    PubMed

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

    2014-01-01

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

  12. An Examination of Challenging Behaviors in Autistic Disorder versus Pervasive Developmental Disorder Not Otherwise Specified: Significant Differences and Gender Effects

    ERIC Educational Resources Information Center

    Kozlowski, Alison M.; Matson, Johnny L.

    2012-01-01

    Children with Autism Spectrum Disorders (ASDs) are well-known for engagement in challenging behaviors. Unfortunately, due to its absence as a criterion for diagnosis in the "DSM-IV-TR", little attention has been paid to the endorsement rates of such behaviors. However, a recently developed measure to assist in the diagnosis of infants and toddlers…

  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. 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…

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

    PubMed Central

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

    2016-01-01

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

  16. Review of Chest Wall Tumors: A Diagnostic, Therapeutic, and Reconstructive Challenge

    PubMed Central

    David, Elizabeth A.; Marshall, M. Blair

    2011-01-01

    Chest wall tumors are a heterogeneous group of lesions that provide an interesting diagnostic and therapeutic challenge for surgeons. They make up less than 5% of thoracic malignancies and vary widely in pathology as they arise from all anatomic structures of the chest wall. In general, treatment is wide local excision, the margins for malignant disease are necessarily wider, and adjuvant radiation is typically given for those with positive margins. Chemotherapy is rarely effective. Local control is the most important prognostic factor. Disease-free survival for malignant disease is limited by positive margins; therefore full oncologic resection with 4-cm margins should be attempted. For small lesions, the resection and reconstruction is usually straightforward. For more advanced disease or those lesions that require significant functional loss, preoperative planning using a multidisciplinary approach, incorporating thoracic surgery, plastic surgery, neurosurgery, radiation medicine, oncology, and physical medicine and rehabilitation, may be essential. PMID:22294939

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

    PubMed

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

    2016-07-01

    Rhabdoid meningioma is a rare meningioma variant, classified as WHO grade III. Although this tumor is known for its aggressive behavior and poor prognosis, extracranial metastasis is rare. We report the rare case of a 31-year-old patient with rhabdoid meningioma which recurred several times despite gross total resection, radiation therapy, and gamma knife radiosurgery, and the last recurrence was associated with metastases to lungs, lymph node and bone. The patient showed no response to paclitaxel-carboplatin, or vincristine-cyclophosphamide-adriamycin chemotherapy, and succumbed to the disease. Metastases from rhabdoid meningioma prove to be a diagnostic challenge, and treatment for metastatic meningiomas is not optimized, thus necessitating documentation and interdisciplinary consensus on management protocols. PMID:26875176

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

    PubMed

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

    2014-08-28

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

  19. 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

  20. Suspected ovarian molar pregnancy after assisted reproductive technology conception: a diagnostic challenge.

    PubMed

    Obeidi, Nedaa; Tchrakian, Nairi; Abu Saadeh, Feras; Mocanu, Edgar

    2015-01-01

    A 32-year-old patient with primary infertility received in vitro fertilisation (IVF) therapy. Four weeks later she developed intermittent left iliac fossa pain. Transvaginal ultrasound showed an empty uterus and an adnexal mass adjacent to the right ovary. Serum β-human chronic gonadotropin was 33,492 IU/L. At laparoscopy a mass attached to right ovary, suggestive of a right ovarian ectopic pregnancy, was excised. Histological examination confirmed an ovarian ectopic gestation, but noted enlarged chorionic villi and trophoblastic atypia, which raised the suspicion of molar pregnancy. Subsequent p57 immunohistochemistry and DNA ploidy studies excluded a mole, however. Cases of suspected molar disease in ectopic pregnancy present a diagnostic challenge for both clinicians and histopathologists, and establishing a definitive diagnosis may be difficult. PMID:25837656

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

    PubMed

    Tajima, Shogo

    2015-01-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2015-01-01

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

  4. 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

  5. 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

  6. [Challenge to understand the neurobiology of obsessive-compulsive disorder].

    PubMed

    Tanaka, Kenji

    2012-08-01

    Obsessive-compulsive disorder (OCD) is characterized by obsession (recurrent intrusive thoughts) and compulsion (repetitive behaviors or mental acts). There is no consensus regarding the pathogenesis of OCD, which could support the idea that this disorder is heterogeneous. However, functional imaging data and surgical findings in humans suggest that the hyperactivity of the specific circuit including the striatum, called the cortico-striato-thalamo-cortical circuit, plays a role in OCD pathogenesis. Recently, validated animal models of OCD have been established, and they provide us the opportunity to address how the altered functional activity of this circuit contributes to the repetitive behavior in OCD. To test the causal relationship between the altered function of the circuit and behavioral abnormalities in animals, cell-type-specific manipulation and detection of changes in the circuit will be required. Optogenetic approaches may be used as tools to dissect the complex circuit. Moreover, mouse functional magnetic resonance imaging may yield data comparable to human imaging data. PMID:22868881

  7. A Simplified Diagnostic Observational Assessment of Autism Spectrum Disorder in Early Childhood.

    PubMed

    Grodberg, David; Siper, Paige; Jamison, Jesslyn; Buxbaum, Joseph D; Kolevzon, Alexander

    2016-04-01

    Subspecialty physicians who have expertise in the diagnosis of autism spectrum disorder typically do not have the resources to administer comprehensive diagnostic observational assessments for patients suspected of ASD. The autism mental status exam (AMSE) is a free and brief eight-item observation tool that addresses this practice gap. The AMSE, designed by Child and Adolescent Psychiatrists, Developmental Behavioral Pediatricians and Pediatric Neurologists structures the observation and documentation of signs and symptoms of ASD and yields a score. Excellent sensitivity and specificity was demonstrated in a population of high-risk adults. This protocol now investigates the AMSE's test performance in a population of 45 young children age 18 months to 5 years with suspected ASD or social and communication concerns who are evaluated at an autism research center. Each subject received a developmental evaluation, including the AMSE, performed by a Child and Adolescent Psychiatrist, that was followed by independent standardized assessment using the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised. A Best Estimate Diagnosis protocol used DSM-5 criteria to ascertain a diagnosis of ASD or non-ASD. Receiver operating characteristic curve analysis was used to determine the AMSE cut point with the highest sensitivity and specificity. Findings indicate an optimized sensitivity of 94% and a specificity of 100% for this high prevalence group. Because of its high classification accuracy in this sample of children the AMSE holds promise as a tool that can support both diagnostic decision making and standardize point of care observational assessment of ASD in high risk children. Autism Res 2016, 9: 443-449. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. PMID:26305145

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

    PubMed

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

    2015-08-01

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

  9. Diagnostic challenges in the work up of hypereosinophilia: pitfalls in bone marrow core biopsy interpretation.

    PubMed

    Schwaab, Juliana; Jawhar, Mohamad; Naumann, Nicole; Schmitt-Graeff, Annette; Fabarius, Alice; Horny, Hans-Peter; Cross, Nicholas C P; Hofmann, Wolf-Karsten; Reiter, Andreas; Metzgeroth, Georgia

    2016-03-01

    The FIP1L1-PDGFRA (FP) fusion gene is identified in a substantial proportion of patients with eosinophilia-associated myeloproliferative neoplasms (MPN-eo) who subsequently achieve rapid and durable remissions on imatinib. In the initial diagnostic work-up of hypereosinophilia (HE), histologic and immunohistochemical evaluation of a bone marrow (BM) core biopsy is considered essential for the differentiation between reactive hypereosinophilia (HER), MPN-eo and hypereosinophilic syndrome (HES). We therefore retrospectively analysed the initial reports of BM core biopsies from 116 patients who were subsequently identified as FP positive (FP+, n = 56) or FP negative/corticosteroid-responsive HER or HES (n = 60). Compared to HER or HES, detection of FP was more frequently associated with increased numbers of blasts (11/56 vs. 2/60, p = 0.007) and mast cells (23/33 vs. 7/23, p = 0.006; with expression of CD25 [11/18 vs. 2/13, p = 0.025]), and/or fibrosis (25/35 vs. 1/23, p < 0.0001). In FP+ patients, HE was correctly associated with an underlying clonal haematologic disorder in only 36/56 (64 %) of cases, but final BM diagnoses included a variety of diagnoses such as MPN-eo (n = 15), acute myeloid leukaemia (n = 8), systemic mastocytosis (n = 6), chronic myeloid leukaemia (n = 5) or unclassified MPN (n = 2). We conclude that the final evaluation of BM core biopsies in the diagnostic work-up of HE should include comprehensive morphologic (stains for myeloid blast cells, mast cells and fibres) and genetic analyses before a final diagnosis is established. PMID:26797429

  10. Challenging previous conceptions of vegetarianism and eating disorders.

    PubMed

    Fisak, B; Peterson, R D; Tantleff-Dunn, S; Molnar, J M

    2006-12-01

    The purpose of this study was to replicate and expand upon previous research that has examined the potential association between vegetarianism and disordered eating. Limitations of previous research studies are addressed, including possible low reliability of measures of eating pathology within vegetarian samples, use of only a few dietary restraint measures, and a paucity of research examining potential differences in body image and food choice motives of vegetarians versus nonvegetarians. Two hundred and fifty-six college students completed a number of measures of eating pathology and body image, and a food choice motives questionnaire. Interestingly, no significant differences were found between vegetarians and nonvegetarians in measures of eating pathology or body image. However, significant differences in food choice motives were found. Implications for both researchers and clinicians are discussed. PMID:17272949

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

    PubMed

    Güldenring, Annette

    2015-01-01

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

  12. Proposed changes to the American Psychiatric Association diagnostic criteria for autism spectrum disorder: implications for young children and their families.

    PubMed

    Grant, Roy; Nozyce, Molly

    2013-05-01

    The American Psychiatric Association has revised the diagnostic criteria for their DSM-5 manual. Important changes have been made to the diagnosis of the current (DSM-IV) category of Pervasive Developmental Disorders. This category includes Autistic Disorder (autism), Asperger's Disorder, and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). The DSM-5 deletes Asperger's Disorder and PDD-NOS as diagnostic entities. This change may have unintended consequences, including the possibility that the new diagnostic framework will adversely affect access to developmental interventions under Individuals with Disabilities Education Act (IDEA) programs, Early Intervention (for birth to 2 years olds) and preschool special education (for 3 and 4 years olds). Changing the current diagnosis of PDD-NOS to a "Social Communication Disorder" focused on language pragmatics in the DSM-5 may restrict eligibility for IDEA programs and limit the scope of services for affected children. Young children who meet current criteria for PDD-NOS require more intensive and multi-disciplinary services than would be available with a communication domain diagnosis and possible service authorization limited to speech-language therapy. Intensive behavioral interventions, inclusive group setting placements, and family support services are typically more available for children with an autism spectrum disorder than with diagnoses reflecting speech-language delay. The diagnostic distinction reflective of the higher language and social functioning between Asperger's Disorder and autism is also undermined by eliminating the former as a categorical diagnosis and subsuming it under autism. This change may adversely affect treatment planning and misinform parents about prognosis for children who meet current criteria for Asperger's Disorder. PMID:23456348

  13. Sensitivity and specificity of proposed DSM-5 diagnostic criteria for autism spectrum disorder Running Head: DSM-5 ASD

    PubMed Central

    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 This study focused on a sample of 977 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 specificity for proposed DSM-5 diagnostic criteria were evaluated using field trial symptom checklists as follows: (a) individual field trial checklist items (e.g., nonverbal communication), (b) checklist items grouped together as described by a single DSM-5 symptom (e.g., nonverbal and verbal communication), (c) individual DSM-5 criterion (e.g., social-communicative impairment), and (d) overall diagnostic criteria. Results When applying proposed DSM-5 diagnostic criteria for ASD, 60.6% (95% confidence interval: 57–64%) of cases with a clinical diagnosis of an ASD met revised DSM-5 diagnostic criteria for ASD. Overall specificity was high, with 94.9% (95% confidence interval: 92–97%) of individuals accurately excluded from the spectrum. Sensitivity varied by diagnostic subgroup (Autistic Disorder =.76; Asperger’s Disorder = .25; PDD-NOS = .28) and cognitive ability (IQ < 70 = .70; IQ ≥ 70 = .46). Conclusions Proposed DSM-5 criteria substantially alter the composition of the autism spectrum. Revised criteria improve specificity, but exclude a substantial portion of cognitively able individuals and those with ASDs other than Autistic Disorder. A more stringent diagnostic rubric holds significant public health ramifications regarding service eligibility and compatibility of historical and future research. PMID:22449643

  14. Mononeuritis multiplex in a patient with B-cell prolymphocytic leukaemia: a diagnostic challenge

    PubMed Central

    Le Clech, Lenaïg; Rizcallah, Marie Jeanne; Alavi, Zarrin; Hutin, Pascal

    2013-01-01

    B-cell prolymphocytic leukaemia (BPLL) is a haematological malignancy defined as lymphocytosis and splenomegaly with >55% circulating cells being clonal prolymphocytes of B-cell origin. The evolution of this disease is more aggressive than chronic lymphocytic leukaemia. We reported a case of a 62-year-old man with BPLL who, on treatment, attained cytological, immunophenotypic and complete cytogenetic remission. He subsequently developed an asymmetric sensorimotor neurological disorder, suggestive of lymphomatous infiltration (neurolymphocytosis). Repetition of the MRI and the electromyography was essential for diagnosis. Progressive mononeuritis multiplex in B-cell leukaemias/lymphomas is rare and may be the only presenting symptom of relapsed or progressive disease. Repeat imaging studies based on judicious evaluation of the clinical scenario for exclusion of other causes of neurological symptoms is necessary. This can be challenging in patients with long-standing malignancies who have received multiple courses of chemotherapy and/or radiotherapy. PMID:24000206

  15. Genomic sequencing for psychiatric disorders: Promise and challenge

    PubMed Central

    Biesecker, Barbara Bowles; Peay, Holly Landrum

    2012-01-01

    The integration of whole genome and whole exome sequencing (WGS/WES) into medicine introduces a new paradigm in genetic testing. The promise of sequencing will ultimately reshape psychiatry. In the meantime, this revolution will present challenges as researchers and clinicians interpret sequence data and make decisions about if, when, and how data should be offered. Individuals may request sequence data to better understand illness etiology, prognosis, and/or treatment response; to clarify their own disease risk; or out of curiosity. This commentary on the ethics of returning WGS/WES data describes the uniqueness of the data as a dynamic health resource; the importance of understanding participant motivations; determinations of personal utility; and potential effects of WGS/WES on self-concept and wellbeing. Clinicians and patients have navigated prior “revolutionary” genetic technologies while managing ethical challenges. Research into participant/patient perceptions, preferences and outcomes will realize areas of caution and prepare for integration into clinical care. PMID:23575420

  16. 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

  17. Diagnostic sub-types, psychological distress and psychosocial dysfunction in southern Chinese people with temporomandibular disorders.

    PubMed

    Lee, L T K; Yeung, R W K; Wong, M C M; McMillan, A S

    2008-03-01

    The study aimed to assess the distribution of temporomandibular disorders (TMD) sub-types, psychological distress and psychosocial dysfunction in southern Chinese people seeking treatment for TMD using Research Diagnostic Criteria for TMD (RDC/TMD) and investigate potential cross-cultural differences in sub-type prevalence and psychosocial impact. Eighty-seven consecutive patients (77 females; 10 males) with a mean age of 39.3 years (s.d. 12.8) newly referred to the specialist TMD clinic at the Prince Philip Dental Hospital, Hong Kong over a 20-month period took part in the study. RDC/TMD history questionnaire and clinical assessment data were used to derive Axis I and II findings. Group I muscle disorders were the most common and found in 57.5% of patients. Group II (disc displacement) disorders were found in 42.5% and 47.1% of the right and left temporomandibular joints (TMJ) respectively. Group III disorders (arthralgia/arthrosis/arthritis) were revealed in 19.5% and 23.0% of right and left TMJ's respectively. In the Axis II assessment, 42.5% of patients had moderate/severe depression scores, 59.7% had moderate/severe somatization scores and based on graded chronic pain scores 15.0% had psychosocial dysfunction (grade III and IV). While acknowledging the small sample size, the distribution of RDC/TMD Axis I and II diagnoses was fairly similar in Chinese TMD patients compared with Western and other Asian patient groups. However, in Chinese patients, myofascial pain with limited jaw opening and TMJ disc displacement with reduction were more common and a significant number experienced psychological distress and psychosocial dysfunction. The findings have implications for the management of TMD in Chinese people. PMID:18254795

  18. 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

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

    PubMed

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

    2016-01-01

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

  20. Progress in the Genetics of Polygenic Brain Disorders: Significant New Challenges for Neurobiology

    PubMed Central

    McCarroll, Steven A.; Hyman, Steven E.

    2014-01-01

    Advances in genome analysis, accompanied by the assembly of large patient cohorts, have made 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. PMID:24183011

  1. Diagnostic and assessment findings: a bridge to academic planning for children with autism spectrum disorders.

    PubMed

    Kanne, Stephen M; Randolph, Jena K; Farmer, Janet E

    2008-12-01

    Increasing numbers of children diagnosed and treated for autism spectrum disorders (ASDs) has impacted both neuropsychologists and educators. Though both play key evaluative and treatment roles, there is no available method or process in place enabling the translation of the neuropsychological report recommendations into a format educational teams can easily use, leading to a gap between neuropsychological recommendations and educational planning. In the following, we review the areas evaluated by a neuropsychologist when assessing a child with an ASD, discuss the domains targeted by educational teams when designing an educational plan, and then present a process that has met with some success creating a "bridge" between the diagnostic/assessment process and the subsequent academic planning. Though presented in the context of ASD, the process described can be used by neuropsychologists for various populations to facilitate partnerships with educators that result in improved care for the child. PMID:18855144

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

    PubMed

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

    2008-06-01

    Individuals trained to respond to a potentially traumatic event may not experience the posttraumatic stress disorder (PTSD) A2 diagnostic criterion of fear, helplessness, or horror and yet may still report significant PTSD symptoms. The present study included interviews with 202 soldiers returning from a year in Iraq. Although reporting an A2 response was associated with higher PTSD Checklist scores, there were no significant differences in the percentage of subjects who met cutoff criteria for PTSD. The most common alternative A2 responses were related to military training and anger. The A2 criterion for PTSD should be expanded so as not to underestimate the number of individuals trained for high-risk occupations who might benefit from treatment. PMID:18553417

  3. Frequency of Binge Eating Episodes in Bulimia Nervosa and Binge Eating Disorder: Diagnostic Considerations

    PubMed Central

    Wilson, G. Terence; Sysko, Robyn

    2013-01-01

    Objective In DSM-IV, to be diagnosed with Bulimia Nervosa (BN) or the provisional diagnosis of Binge Eating Disorder (BED), an individual must experience episodes of binge eating is “at least twice a week” on average, for three or six months respectively. The purpose of this review was to examine the validity and utility of the frequency criterion for BN and BED. Method Published studies evaluating the frequency criterion were reviewed. Results Our review found little evidence to support the validity or utility of the DSM-IV frequency criterion of twice a week binge eating; however, the number of studies available for our review was limited. Conclusion A number of options are available for the frequency criterion in DSM-V, and the optimal diagnostic threshold for binge eating remains to be determined. PMID:19610014

  4. Peripancreatic paraganglioma: a potential diagnostic challenge in cytopathology and surgical pathology.

    PubMed

    Singhi, Aatur D; Hruban, Ralph H; Fabre, Monique; Imura, Johji; Schulick, Richard; Wolfgang, Christopher; Ali, Syed Z

    2011-10-01

    resections can be diagnostically challenging. Awareness and proper recognition of this entity, including differential diagnosis, are imperative in establishing the correct diagnosis. Further, close follow-up of these cases should be considered because of the significant risk of metastatic disease. PMID:21921779

  5. Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry

    PubMed Central

    Pecina, Petr; Houšťková, Hana; Mráček, Tomáš; Pecinová, Alena; Nůsková, Hana; Tesařová, Markéta; Hansíková, Hana; Janota, Jan; Zeman, Jiří; Houštěk, Josef

    2014-01-01

    Background Mitochondrial diseases belong to the most severe inherited metabolic disorders affecting pediatric population. Despite detailed knowledge of mtDNA mutations and progress in identification of affected nuclear genes, diagnostics of a substantial part of mitochondrial diseases relies on clinical symptoms and biochemical data from muscle biopsies and cultured fibroblasts. Methods To investigate manifestation of oxidative phosphorylation defects in isolated lymphocytes, digitonin-permeabilized cells from 48 children were analyzed by high resolution respirometry, cytofluorometric detection of mitochondrial membrane potential and immunodetection of respiratory chain proteins with SDS and Blue Native electrophoreses. Results Evaluation of individual respiratory complex activities, ATP synthesis, kinetic parameters of mitochondrial respiratory chain and the content and subunit composition of respiratory chain complexes enabled detection of inborn defects of respiratory complexes I, IV and V within 2 days. Low respiration with NADH-dependent substrates and increased respiration with glycerol-3-phosphate revealed complex I defects; changes in p50 for oxygen and elevated uncoupling control ratio pointed to complex IV deficiency due to SURF1 or SCO2 mutation; high oligomycin sensitivity of state 3-ADP respiration, upregulated mitochondrial membrane potential and low content of complex V were found in lymphocytes with ATP synthase deficiency due to TMEM70 mutations. Conclusion Based on our results, we propose the best biochemical parameters predictive for defects of respiratory complexes I, IV and V manifesting in peripheral blood lymphocytes. General significance The noninvasiveness, reliability and speed of an approach utilizing novel biochemical criteria demonstrate the high potential of isolated lymphocytes for diagnostics of oxidative phosphorylation disorders in pediatric patients. PMID:26675066

  6. [The clinical impairment of children with Attention Deficit Hyperactivity Disorder: problematic of diagnostic criteria].

    PubMed

    Skounti, M; Bitzaraki, A

    2011-01-01

    One important consideration in the diagnosis of Attention Deficit Hyperactivity Disorder (ADHD), as set forth in the criterion D of DSM-IV, is the assessment of clinically significant impairment in social and academic functioning. Despite the avowed importance in the assessment of ADHD, there is little guidance in DSM-IV in defining impairment. Rating scales assessing impairment are few in number and rarely used in clinical practice. Overlooking impairment in diagnostic approaches has strong clinical implications, leading to false positive or false negative diagnoses. The relation between impairment and symptoms remains currently undefined and a controversial field in the ADHD literature, as many children can display the full range of ADHD symptoms without necessarily displaying significant impairment in their functioning. The relation between symptoms and impairment is more obvious in older children, where domains of impairment are more expanded. This finding suggests that symptoms and impairment are related, but yet there are distinct domains that should be measured independently to confirm the presence of ADHD. In conclusion, an operational definition of impairment, valid measures and diagnostic decision rules for incorporating impairment into the assessment of ADHD is warranted. Additional research is also needed to determine whether the age of onset of symptoms (before the age of seven) is different or should be separated from the age of onset of impairment. PMID:21888188

  7. Air pollution and newly diagnostic autism spectrum disorders: a population-based cohort study in Taiwan.

    PubMed

    Jung, Chau-Ren; Lin, Yu-Ting; Hwang, Bing-Fang

    2013-01-01

    There is limited evidence that long-term exposure to ambient air pollution increases the risk of childhood autism spectrum disorder (ASD). The objective of the study was to investigate the associations between long-term exposure to air pollution and newly diagnostic ASD in Taiwan. We conducted a population-based cohort of 49,073 children age less than 3 years in 2000 that were retrieved from Taiwan National Insurance Research Database and followed up from 2000 through 2010. Inverse distance weighting method was used to form exposure parameter for ozone (O3), carbon monoxide (CO), nitrogen dioxide (NO2), sulfur dioxide (SO2), and particles with aerodynamic diameter less than 10 µm (PM10). Time-dependent Cox proportional hazards (PH) model was performed to evaluate the relationship between yearly average exposure air pollutants of preceding years and newly diagnostic ASD. The risk of newly diagnostic ASD increased according to increasing O3, CO, NO2, and SO2 levels. The effect estimate indicating an approximately 59% risk increase per 10 ppb increase in O3 level (95% CI 1.42-1.79), 37% risk increase per 10 ppb in CO (95% CI 1.31-1.44), 340% risk increase per 10 ppb increase in NO2 level (95% CI 3.31-5.85), and 17% risk increase per 1 ppb in SO2 level (95% CI 1.09-1.27) was stable with different combinations of air pollutants in the multi-pollutant models. Our results provide evident that children exposure to O3, CO, NO2, and SO2 in the preceding 1 year to 4 years may increase the risk of ASD diagnosis. PMID:24086549

  8. 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

  9. Isolated giant cerebral varix – A diagnostic and therapeutic challenge: A case report

    PubMed Central

    Gomez, Diego Fernando; Mejia, Juan A.; Murcia, Diana J.; Useche, Nicolas

    2016-01-01

    Background: Isolated giant cerebral varix (IGV) is an uncommon vascular lesion that represents a diagnostic challenge and requires dynamic vascular studies for its characterization. The IGV is considered a benign, low-flow venous lesion with very low risk of bleeding that might cause secondary symptoms mainly due to compression of the adjacent parenchyma. Case Description: A 12-year-old female patient with non-contributory medical history presented with headache for the last 2 months. Upon admission, her neurological examination was unremarkable. Magnetic resonance imaging (MRI) and computed tomography angiography (CTA) images demonstrated a large varicose dilation of the superficial Sylvian vein, located anterior to the left temporal pole, with no evidence of abnormal arteriovenous connections or tumoral lesions. This finding was considered incidental and unrelated to her symptoms. In this case, we considered that the combination of CTA and MRIs was enough to establish an accurate diagnosis, excluding the need to perform invasive imaging studies. Taking into account these considerations, the patient was managed with conservative treatment and has been followed up for 1 year, remaining asymptomatic. Conclusion: Cerebral IGVs are rare vascular lesions that are treated conservatively when asymptomatic and surgically in the case of rupture or compression of adjacent structures. Given our observation of a high unlikelihood of vascular connections to arteries, and the information obtained with non-invasive imaging techniques such as CTA and MRI was enough to make a clinical decision and avoid the evaluation with invasive procedures. PMID:27069749

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

    NASA Astrophysics Data System (ADS)

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

    2008-03-01

    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 (˜500 kW/m2) 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.

  11. Primary Biliary Cirrhosis Associated with Systemic Sclerosis: Diagnostic and Clinical Challenges

    PubMed Central

    Rigamonti, Cristina; Bogdanos, Dimitrios P.; Mytilinaiou, Maria G.; Smyk, Daniel S.; Rigopoulou, Eirini I.; Burroughs, Andrew K.

    2011-01-01

    Patients with primary biliary cirrhosis (PBC) often have concurrent limited systemic sclerosis (SSc). Conversely, up to one-fourth of SSc patients are positive for PBC-specific antimitochondrial antibodies (AMA). The mechanisms responsible for the co-occurrence of these diseases are largely unknown. Genetic, epigenetic, environmental, and infectious factors appear to be important for the pathogenesis of the disease, but the hierarchy of events are not well defined. Patients with SSc and PBC have an increased morbidity and mortality compared with the general population, but whether the presence of both diseases in an affected individual worsens the prognosis and/or outcome of either disease is not clear. Some case reports suggested that the presence of SSc in PBC patents is associated with a more favorable prognosis of the liver disease, whereas others report an increased mortality in patients with PBC and SSc compared to patients with PBC alone. This paper discusses the features of patients with PBC-associated SSc. Our aims are to clarify some of the pathogenetic, diagnostic, and clinical challenges that are currently faced in the routine management of these patients. We also intend to provide some practical hints for practitioners that will assist in the early identification of patients with PBC-associated SSc. PMID:22187566

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

    PubMed Central

    Stål, Per

    2015-01-01

    Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease in the Western world, with a prevalence of 20%. In a subgroup of patients, inflammation, ballooning degeneration of hepatocytes and a varying degree of fibrosis may develop, a condition named non-alcoholic steatohepatitis. Advanced liver fibrosis (stage F3) and cirrhosis (stage F4) are histologic features that most accurately predict increased mortality in both liver-related and cardiovascular diseases. Patients with advanced fibrosis or cirrhosis are at risk for complications such as hepatocellular carcinoma and esophageal varices and should therefore be included in surveillance programs. However, liver disease and fibrosis are often unrecognized in patients with NAFLD, possibly leading to a delayed diagnosis of complications. The early diagnosis of advanced fibrosis in NAFLD is therefore crucial, and it can be accomplished using serum biomarkers (e.g., the NAFLD Fibrosis Score, Fib-4 Index or BARD) or non-invasive imaging techniques (transient elastography or acoustic radiation force impulse imaging). The screening of risk groups, such as patients with obesity and/or type 2 diabetes mellitus, for NAFLD development with these non-invasive methods may detect advanced fibrosis at an early stage. Additionally, patients with a low risk for advanced fibrosis can be identified, and the need for liver biopsies can be minimized. This review focuses on the diagnostic challenge and prognostic impact of advanced liver fibrosis in NAFLD. PMID:26494963

  13. Oral biofilms: molecular analysis, challenges, and future prospects in dental diagnostics

    PubMed Central

    Do, Thuy; Devine, Deirdre; Marsh, Philip D

    2013-01-01

    Oral biofilms are functionally and structurally organized polymicrobial communities that are embedded in an extracellular matrix of exopolymers on mucosal and dental surfaces. These biofilms are found naturally in health, and provide benefits to the host. However, this relationship can break down, and disease can occur; disease is associated with a shift in the balance of the species within these biofilms. Simple diagnostic tests have been developed that involve the culture of selected bacteria, eg, those implicated in dental caries, facilitating an assessment of risk of further disease in individual patients. However, oral diseases have a complex etiology, and because only around 50% of oral biofilm can be grown at present, culture-independent molecular-based approaches are being developed that give a more comprehensive assessment of the presence of a range of putative pathogens in samples. The diversity of these biofilms creates challenges in the interpretation of findings, and future work is investigating the ability of novel techniques to detect biological activity and function in oral biofilms, rather than simply providing a catalogue of microbial names. PMID:23674928

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

    PubMed

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

    2016-01-01

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

  15. 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

  16. Attention-deficit hyperactivity disorder (ADHD) as a pyridoxine-dependent condition: urinary diagnostic biomarkers.

    PubMed

    Dolina, S; Margalit, D; Malitsky, S; Rabinkov, A

    2014-01-01

    The data obtained in children with different forms of epilepsy allowed us to consider epilepsy as an inborn error of pyridoxine (vitamin B6) metabolism (Dolina et al., 2012). Mutual interconnections between ADHD and epilepsy indicate that such an approach is reasonable for ADHD. To check such an assumption we analyzed in ADHD patients the same parameters of pyridoxal phosphate (PLP)-dependent tryptophan (TRP) degradation, which were analyzed in epileptic children. The level of TRP and concentrations of compounds formed or metabolized by TRP degradation, the ratios between some of them, and the level of 4-pyridoxic acid were HPLC detected in ADHD children and healthy controls. The data obtained, including low values of 4PA/TRP, IND/TRP and IND/KYN ratios, have evidenced dramatically impaired activity of pyridoxine-dependent enzymes in ADHD patients. Ritalin treatment did not change the general pattern of TRP degradation, but still created a kind of balance between some of detected metabolites. However, the 4PA/TRP, IND/TRP and IND/KYN ratios remained as low as in untreated patients, keeping the importance of diagnostic markers. Almost identical parameters of TRP degradation in untreated ADHD and epileptic patients allow to assume that inborn disorders of vitamin B6 metabolism are the common biochemical background of both diseases. The disturbed activity of PLP dependent enzymes apparently forms those profound disturbances of neurotransmitter systems, which are inherent in ADHD: low concentrations of monoamines and disordered amino acid metabolism. If vitamin B6 disorders are the core biochemical disturbances inherent in ADHD, then the long-term pyridoxine treatment is pathogenetically based replacement therapy of the disease. According to our data, multi-year pyridoxine treatment normalizes completely the pattern of ADHD behavior, without causing any serious side effects. PMID:24321736

  17. What should be done with antisocial personality disorder in the new edition of the diagnostic and statistical manual of mental disorders (DSM-V)?

    PubMed Central

    2010-01-01

    Antisocial personality disorder, psychopathy, dissocial personality disorder and sociopathy are constructs that have generally been used to predict recidivism and dangerousness, alongside being used to exclude patients from treatment services. However, 'antisocial personality disorder' has recently begun to emerge as a treatment diagnosis, a development reflected within cognitive behaviour therapy and mentalisation-based psychotherapy. Many of the behaviour characteristics of antisocial personality disorder are, at the same time, being targeted by interventions at criminal justice settings. A significantly higher proportion of published articles focusing on antisocial personality concern treatment when compared to articles on psychopathy. Currently, the proposal for antisocial personality disorder for the Diagnostic and Statistical Manual of Mental Disorders, fifth edition, suggests a major change in the criteria for this disorder. While the present definition focuses mainly on observable behaviours, the proposed revision stresses interpersonal and emotional aspects of the disorder drawing on the concept of psychopathy. The present commentary suggests that developments leading to improvement in the diagnosis of this type of disorder should, rather than focusing exclusively on elements such as dangerousness and risk assessment, point us to ways in which patients can be treated for their problems. PMID:20979622

  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. 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…

  20. 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…

  1. 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…

  2. 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…

  3. 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…

  4. 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…

  5. 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…

  6. 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…

  7. 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…

  8. Challenging Behavior and Co-Morbid Psychopathology in Adults with Intellectual Disability and Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    McCarthy, Jane; Hemmings, Colin; Kravariti, Eugenia; Dworzynski, Katharina; Holt, Geraldine; Bouras, Nick; Tsakanikos, Elias

    2010-01-01

    We investigated the relationship between challenging behavior and co-morbid psychopathology in adults with intellectual disability (ID) and autism spectrum disorders (ASDs) (N=124) as compared to adults with ID only (N=562). All participants were first time referrals to specialist mental health services and were living in community settings.…

  9. 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…

  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. Educators' Challenges of Including Children with Autism Spectrum Disorder in Mainstream Classrooms

    ERIC Educational Resources Information Center

    Lindsay, Sally; Proulx, Meghann; Thomson, Nicole; Scott, Helen

    2013-01-01

    Although children with autism spectrum disorder (ASD) are increasingly being placed within mainstream classes, little is known about the challenges that teachers encounter with including them as full participants in the class. This qualitative study draws on a purposive sample of 13 educators who have experience teaching children with ASD within…

  12. 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…

  13. Diagnostic Overshadowing and Other Challenges Involved in the Diagnostic Process of Patients with Mental Illness Who Present in Emergency Departments with Physical Symptoms – A Qualitative Study

    PubMed Central

    Shefer, Guy; Henderson, Claire; Howard, Louise M.; Murray, Joanna; Thornicroft, Graham

    2014-01-01

    We conducted a qualitative study in the Emergency Departments (EDs) of four hospitals in order to investigate the perceived scope and causes of ‘diagnostic overshadowing’ – the misattribution of physical symptoms to mental illness – and other challenges involved in the diagnostic process of people with mental illness who present in EDs with physical symptoms. Eighteen doctors and twenty-one nurses working in EDs and psychiatric liaisons teams in four general hospitals in the UK were interviewed. Interviewees were asked about cases in which mental illness interfered with diagnosis of physical problems and about other aspects of the diagnostic process. Interviews were transcribed and analysed thematically. Interviewees reported various scenarios in which mental illness or factors related to it led to misdiagnosis or delayed treatment with various degrees of seriousness. Direct factors which may lead to misattribution in this regard are complex presentations or aspects related to poor communication or challenging behaviour of the patient. Background factors are the crowded nature of the ED environment, time pressures and targets and stigmatising attitudes held by a minority of staff. The existence of psychiatric liaison team covering the ED twenty-four hours a day, seven days a week, can help reduce the risk of misdiagnosis of people with mental illness who present with physical symptoms. However, procedures used by emergency and psychiatric liaison staff require fuller operationalization to reduce disagreement over where responsibilities lie. PMID:25369130

  14. Circulating microRNAs as a Novel Class of Potential Diagnostic Biomarkers in Neuropsychiatric Disorders.

    PubMed

    Kichukova, Tatyana M; Popov, Nikolay T; Ivanov, Hristo Y; Vachev, Tihomir I

    2015-01-01

    Neuropsychiatric diseases, such as schizophrenia, bipolar disorder (BD), major depressive disorder (MDD) and autism spectrum disorder (ASD), are a huge burden on society, impairing the health of those affected, as well as their ability to learn and work. Biomarkers that reflect the dysregulations linked to neuropsychiatric diseases may potentially assist the diagnosis of these disorders. Most of these biomarkers are found in the brain tissue, which is not easily accessible. This is the challenge for the search of novel biomarkers that are present in various body fluids, including serum or plasma. As a group of important endogenous small noncoding RNAs that regulate gene expression at post-transcriptional level, microRNAs (miRNAs) play a crucial role in many physiological and pathological processes. Previously, researchers discovered that miRNAs contribute to the neurodevelopment and maturation, including neurite outgrowth, dendritogenesis and dendritic spine formation. These developments underline the significance of miRNAs as potential biomarkers for diagnosing and prognosing central nervous system diseases. Accumulated evidence indicates that there are considerable differences between the cell-free miRNA expression profiles of healthy subjects and those of patients. Therefore, circulating miRNAs are likely to become a new class of noninvasive, sensitive biomarkers. Despite the fact that little is known about the origin and functions of circulating miRNAs, their essential roles in the clinical diagnosis and prognosis of neuropsychiatric diseases make them attractive biomarkers. In this review we cover the increasing amounts of dataset that have accumulated in the last years on the use of circulating miRNAs and their values as potential biomarkers in most areas of neuropsychiatric diseases. PMID:27180342

  15. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.

    PubMed

    Thevenon, J; Duffourd, Y; Masurel-Paulet, A; Lefebvre, M; Feillet, F; El Chehadeh-Djebbar, S; St-Onge, J; Steinmetz, A; Huet, F; Chouchane, M; Darmency-Stamboul, V; Callier, P; Thauvin-Robinet, C; Faivre, L; Rivière, J B

    2016-06-01

    The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic encephalopathy (EE) results in a diagnostic yield of ∼50%. Affected individuals nonetheless undergo multiple clinical evaluations and low-yield laboratory tests often referred to as a 'diagnostic odyssey'. This study was aimed at assessing the utility of clinical whole-exome sequencing (WES) in individuals with undiagnosed and severe forms of ID and EE, and the feasibility of its implementation in routine practice by a small regional genetic center. We performed WES in a cohort of 43 unrelated individuals with undiagnosed ID and/or EE. All individuals had undergone multiple clinical evaluations and diagnostic tests over the years, with no definitive diagnosis. Sequencing data analysis and interpretation were carried out at the local molecular genetics laboratory. The diagnostic rate of WES reached 32.5% (14 out of 43 individuals). Genetic diagnosis had a direct impact on clinical management in four families, including a prenatal diagnostic test in one family. Our data emphasize the clinical utility and feasibility of WES in individuals with undiagnosed forms of ID and EE and highlight the necessity of close collaborations between ordering physicians, molecular geneticists, bioinformaticians and researchers for accurate data interpretation. PMID:26757139

  16. Pandemic H1N1 2009 ('swine flu'): diagnostic and other challenges.

    PubMed

    Burkardt, Hans-Joachim

    2011-01-01

    Pandemic H1N1 2009 ('swine flu') virus was 'the virus of the year 2009' because it affected the lives of many people in this year. H1N1 was first described in California in April 2009 and spread very rapidly all over the globe. The fast global penetration of the swine flu caused the WHO in Geneva to call the infection with H1N1 a new pandemic with a rapid escalation of the different pandemic phases that ended on 11 June 2009, with the declaration of phase 6 (full-blown pandemic). This had far-reaching consequences for the local health authorities in the different affected countries and created awareness in the public and fear in the experts and even more so in many lay people. The consequences were: setting up reliable diagnostic tests as soon as possible; enhanced production, distribution and stock creation of the few drugs that were available to treat newly infected persons; and development, production, distribution and stock creation of new and appropriate anti-H1N1 swine flu vaccines. This all resulted in enormous costs in the local healthcare systems and also required smart and diligent logistics, because demand for all this was, in most cases, much higher than availability. Fortunately, the pandemic ended quite quickly (there was no 'second wave' as had been anticipated by some experts) and the death toll was moderate, compared with other influenza pandemic in the past and even to the regular annual appearance of the seasonal flu. This favorable outcome, however, provoked some harsh criticism that the WHO and healthcare systems in general had over-reacted and by doing so, a lot of money was thrown out of the window. This article describes the history of the H1N1 pandemic, the diagnostic challenges and resolutions, touches on treatment and vaccination very briefly and also comments on the criticism and arguments that came up immediately at the end and following the termination of the pandemic situation. PMID:21171919

  17. Challenges and Strategies for Quantitive Ground Penetrating Radar Diagnostics of Cultural Heritage

    NASA Astrophysics Data System (ADS)

    di Donato, Loreto; Catapano, Ilaria; Crocco, Lorenzo

    2010-05-01

    High resolution non-invasive surveys based on Ground Penetrating Radar are exploited in many different applications, including cultural heritage diagnostics. In this framework, the interaction of the probing wave with an inaccessible region is useful for instance to provide information on the inner status of a structure, so to call for maintenance, or to characterize an underground scenario, so to address the following excavations. While the large part of GPR surveys is still based on 'traditional' radar-like techniques, which require a significant interpretation stage by an expert user, microwave tomography (MT) strategies based on inverse scattering have been recently gaining an increasing attention. As a matter of fact, these techniques are capable of achieving images which are stable with respect to measurement noise and uncertainties on the scenario, therefore being minimally dependent on the end-user's interpretation. So far, MT strategies adopted in GPR surveys are based on an approximated formulation which neglects the underlying non-linearity of the inverse problem. Such a circumstance, that greatly simplifies their practical application, limits the achievable performances, as it prevents one from achieving a quantitative assessment of the scenario under test in terms of location, shape and electormagnetic parameters of the embedded 'anomalies'. Obviously, the potential advantage resulting from such a completely objective assessment is apparent, since an imaging method able to deliver quantitative information entails a dramatic reduction of costs and a definite improvement in the effectiveness of maintenance operations. Therefore, a stimulating challenge is to proceed towards the development of imaging strategies that rely on full-wave models and which are thus capable of providing these added-value results. However, such an aim is not a trivial one pursue, since one has to tackle the inverse problem in its fully non-linearity and ill-posedness. Indeed

  18. Riluzole treatment, survival and diagnostic criteria in Parkinson plus disorders: the NNIPPS study.

    PubMed

    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 r(pb) = 0.93, P < 0.0001; PSP, r(pb) = 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-riluzole: 0

  19. 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

  20. 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

  1. Developmentally-Sensitive Diagnostic Criteria for Mental Health Disorders in Early Childhood: DSM-IV, RDC-PA, and the revised DC: 0-3

    PubMed Central

    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 paper, 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 included DC:0-3, a diagnostic classification for mental health symptoms and disorders in infant, toddlers, and preschoolers. We will briefly outline the role of diagnostic classification in clinical assessment and treatment planning. Lastly, we will review the limitations of current approaches to the diagnostic classification of mental health disorders in young children. PMID:21142337

  2. Mucormycosis Rhinosinusitis at Diagnosis of Acute Lymphoblastic Leukemia: Diagnostics and Management Challenges in a Low-Middle-income Country.

    PubMed

    Mandegari, Elham; Fu, Ligia; Arambú, Carolina; Montoya, Sandra; Peña, Armando; Johnson, Kyle M; Perfect, John R; Caniza, Miguela A

    2015-04-01

    We present the case of an adolescent with mucor rhinosinusitis diagnosed concomitantly with acute lymphoblastic leukemia at a hospital in Tegucigalpa, Honduras. We also discuss the challenges faced in the dual management of hematologic malignancies and invasive fungal disease in a low-middle-income country, such as access to diagnostics, immunosuppressants, imaging, and antifungals. Despite these shortcomings, the patient was successfully treated for both the diseases. Low-middle-income country hospitals can effectively treat invasive fungal diseases by providing adequate diagnostic and support services, which can improve the outcomes of pediatric cancer patients. PMID:24942033

  3. Primary osteoclast-like giant cell tumor of parotid gland: A rare extraskeletal presentation with diagnostic challenges.

    PubMed

    Singh, Ritika; Zaheer, Sufian; Mandal, Ashish K

    2016-01-01

    Primary osteoclast-like giant cell tumor (OC-GCT) has been rarely described in extraskeletal sites. The diagnosis primarily hinges on the detection of giant cells. However, these giant cells are also seen in many giant cell lesions, thus creating diagnostic confusion and dilemma. Here, we describe a rare case of a 24-year-old male with primary extraskeletal, OC-GCT presenting as a swelling in the right parotid region and highlight its cytological, histological and immunohistochemical characteristics with diagnostic challenges. PMID:27601838

  4. Primary osteoclast-like giant cell tumor of parotid gland: A rare extraskeletal presentation with diagnostic challenges

    PubMed Central

    Singh, Ritika; Zaheer, Sufian; Mandal, Ashish K

    2016-01-01

    Primary osteoclast-like giant cell tumor (OC-GCT) has been rarely described in extraskeletal sites. The diagnosis primarily hinges on the detection of giant cells. However, these giant cells are also seen in many giant cell lesions, thus creating diagnostic confusion and dilemma. Here, we describe a rare case of a 24-year-old male with primary extraskeletal, OC-GCT presenting as a swelling in the right parotid region and highlight its cytological, histological and immunohistochemical characteristics with diagnostic challenges. PMID:27601838

  5. A diagnostic dilemma between psychosis and post-traumatic stress disorder: a case report and review of the literature

    PubMed Central

    2011-01-01

    Introduction Post-traumatic stress disorder is defined as a mental disorder that arises from the experience of traumatic life events. Research has shown a high incidence of co-morbidity between post-traumatic stress disorder and psychosis. Case presentation We report the case of a 32-year-old black African woman with a history of both post-traumatic stress disorder and psychosis. Two years ago she presented to mental health services with auditory and visual hallucinations, persecutory delusions, suicidal ideation, recurring nightmares, hyper-arousal, and initial and middle insomnia. She was prescribed trifluoperazine (5 mg/day) and began cognitive-behavioral therapy for psychosis. Her psychotic symptoms gradually resolved over a period of three weeks; however, she continues to experience ongoing symptoms of post-traumatic stress disorder. In our case report, we review both the diagnostic and treatment issues regarding post-traumatic stress disorder with psychotic symptoms. Conclusions There are many factors responsible for the symptoms that occur in response to a traumatic event, including cognitive, affective and environmental factors. These factors may predispose both to the development of post-traumatic stress disorder and/or psychotic disorders. The independent diagnosis of post-traumatic stress disorder with psychotic features remains an open issue. A psychological formulation is essential regarding the appropriate treatment in a clinical setting. PMID:21392392

  6. 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

  7. Low-grade adenosquamous carcinoma of the breast: A diagnostic and clinical challenge.

    PubMed

    Tan, Qing Ting; Chuwa, Esther Wee Lee; Chew, Sung Hock; Lim-Tan, Soo Kim; Lim, Swee Ho

    2015-07-01

    Adenosquamous carcinoma of the breast (ASBC) is a rare variant of metaplastic breast cancer with both glandular as well as squamous differentiation. Their lack of distinct imaging characteristics, sometimes subtle histological characteristics and overlapping features with other benign lesions pose a diagnostic challenge. Unlike other forms of metaplastic breast cancer, low-grade adenosquamous carcinoma (LGAC) tends to follow an indolent course with favourable prognosis. We reviewed eight cases of LGAC in our institution from June 2005 to March 2014. In six cases, LGAC was only found after excisional biopsy. In our patients, LGAC frequently co-existed with other forms of breast pathology. Two patients had incidental findings of LGAC alongside their primary malignant tumour (adenoid cystic carcinoma and invasive ductal carcinoma in one, four foci between 0.5 and 4.0 mm within a radial sclerosing lesion adjacent to a malignant phyllodes tumour in the other). A further four patients had LGAC within a complex sclerosing lesion. One patient had a focus of LGAC within a fibroadenoma. One had a focus of LGAC within a benign phyllodes tumour. None of the patients had evidence of nodal involvement. A high degree of suspicion is recommended as such lesions tend to be incidental histological findings within benign tumours or within complex sclerosing lesions. Although the risk of nodal and distant metastasis is low, the potential for local recurrence necessitates aggressive local excision with margin clearance. The role of axillary dissection has yet to be defined and routine sentinel node biopsy and axillary clearance may not be necessary in view of rarity of nodal metastasis in literature. Benefit from adjuvant radiotherapy or chemotherapy is not clearly defined. All eight patients in our study have shown no evidence of recurrence after definitive surgery but longer periods of surveillance is required. PMID:25986061

  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. PMID:26100153

  9. 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…

  10. 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…

  11. Migration background and juvenile mental health: a descriptive retrospective analysis of diagnostic rates of psychiatric disorders in young people

    PubMed Central

    Gaber, Tilman Jakob; Bouyrakhen, Samira; Herpertz-Dahlmann, Beate; Hagenah, Ulrich; Holtmann, Martin; Freitag, Christine Margarete; Wöckel, Lars; Poustka, Fritz; Zepf, Florian Daniel

    2013-01-01

    Introduction This article presents diagnostic rates for specific mental disorders in a German pediatric inpatient population over a period of 20 years with respect to migration background and socioeconomic status (SES). Methods Diagnostic data were obtained over a period of 20 years from 8,904 patients who visited a child and adolescent psychiatry mental health service in Germany. Data from 5,985 diagnosed patients (ICD-9 and ICD-10 criteria) were included with respect to gender, migration background, and SES. Results Migration- and gender-specific effects were found for both periods of assessment. The group of boys with a migration background showed significantly higher rates of reactions to severe stress, adjustment disorders, and posttraumatic stress disorder compared to their male, non-migrant counterparts. Conversely, boys without a migration background showed a significantly higher percentage rate of hyperkinetic disorders than male migrants. Similar results were found for female migrants in the latter assessment period (ICD-10). In addition, female migrants showed lower rates of emotional disorders whose onset occurs in childhood compared to their non-migrant counterparts. Conclusions Data from this investigation provide preliminary evidence that the prevalence of various psychiatric disorders in children and adolescents is influenced by migration background and SES. PMID:23787053

  12. Identifying features of 'pathological demand avoidance' using the Diagnostic Interview for Social and Communication Disorders (DISCO).

    PubMed

    O'Nions, Elizabeth; Gould, Judith; Christie, Phil; Gillberg, Christopher; Viding, Essi; Happé, Francesca

    2016-04-01

    The term 'pathological demand avoidance' (PDA) was coined by Elizabeth Newson to describe children within the autism spectrum who exhibit obsessive resistance to everyday demands and requests (Newson et al., Arch Dis Child 88:595-600, 2003). Clinical accounts describe avoidance strategies including apparently strategic use of distraction or socially shocking behaviour, and obsessive need for control, reflected in domineering behaviour to peers and adults. Educational and management approaches effective for PDA reportedly differ from those for 'typical' autism spectrum disorders (ASD), and include novelty, humour and flexibility. Identification of PDA in individuals with ASD may have important implications for management (Eaton and Banting, J Learn Disabil Offending Behav 3:150-157, 2012). Despite increasing interest, no clinician-rated instrument for PDA has been developed. Here, items relevant to PDA were identified from the Diagnostic Interview for Social and Communication Disorder (DISCO) (Wing et al., J Child Psychol Psychiatry 43:307-325, 2002). The most PDA-specific subset of relevant DISCO items was selected, based on low endorsement in general across a sample of 153 individuals assessed for possible ASD using the DISCO. Having selected 11 DISCO PDA items for the measure, a subset of individuals with a high number of these features was identified (N = 27). Consistent with Newson's descriptions, this high scoring group was characterised by lack of co-operation, use of apparently manipulative behaviour, socially shocking behaviour, difficulties with other people, anxiety and sudden behavioural changes from loving to aggression. All but one case met criteria for an ASD. This study brings the field a step closer to a clinician-rated measure of PDA features and highlights the need for further elucidation of the PDA phenotype. PMID:26224583

  13. Sinus Venosus Atrial Septal Defect as a Cause of Palpitations and Dyspnea in an Adult: A Diagnostic Imaging Challenge

    PubMed Central

    Donovan, Michael S.; Kassop, David; Liotta, Robert A.; Hulten, Edward A.

    2015-01-01

    Sinus venosus atrial septal defects (SV-ASD) have nonspecific clinical presentations and represent a diagnostic imaging challenge. Transthoracic echocardiography (TTE) remains the initial diagnostic imaging modality. However, detection rates have been as low as 12%. Transesophageal echocardiography (TEE) improves diagnostic accuracy though it may not detect commonly associated partial anomalous pulmonary venous return (PAPVR). Cardiac magnetic resonance (CMR) imaging provides a noninvasive, highly sensitive and specific imaging modality of SV-ASD. We describe a case of an adult male with exercise-induced, paroxysmal supraventricular tachycardia who presented with palpitations and dyspnea. Despite nondiagnostic imaging results on TTE, CMR proved to be instrumental in visualizing a hemodynamically significant SV-ASD with PAPVR that ultimately led to surgical correction. PMID:25705227

  14. A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup.

    PubMed

    Francescato, Gaia; Salvatoni, Alessandro; Persani, Luca; Agosti, Massimo

    2012-01-01

    We report a case of familial glucocorticoid deficiency (FGD), a rare genetic autosomal-recessive disorder with typical hyperpigmentation of the skin and mucous membranes, severe hypoglycaemia, occasionally leading to seizures and coma, feeding difficulties, failure to thrive and infections. A newborn child was admitted, on his second day of life, to our neonatal intensive care unit because of seizures and respiratory insufficiency. Hyperpigmentation was not evident due to his Senegalese origin. The clinical presentation led us to consider a wide range of diagnostic hypothesis. Laboratory findings brought us to the diagnosis of FGD that was confirmed by molecular analysis showing an MC2R:p.Y254C mutation previously reported as causative of type 1 FGD and two novel heterozygous non-synonymous single-nucleotide polymorphisms in exon 2 and 3 of melanocortin 2 receptor accessory protein-α, whose role in the disease is currently unknown. The importance of an early collection and storage of blood samples during hypoglycaemic event is emphasised. PMID:22814974

  15. Should DSM-V include dimensional diagnostic criteria for alcohol use disorders?

    PubMed

    Helzer, John E; Bucholz, Kathleen K; Bierut, Laura Jean; Regier, Darrel A; Schuckit, Marc A; Guth, Sarah E

    2006-02-01

    This program calls attention to the upcoming timetable for the revision of the Diagnostic and Statistical Manual (DSM)-IV and the publication of DSM-V. It is vitally important for Research Society of Alcoholism members to be aware of the current discussions of the important scientific questions related to the next DSM revision and to use the opportunity for input. The title of the symposium highlights 1 key question, i.e., whether the DSM definitions should remain strictly categorical as in the past or whether a dimensional component should be included in this revision. Two substantive and 1 conceptual paper are included in this portion of the symposium. The fourth and final presentation detailing the revision timetable and the opportunities for input is by Dr. Darrel Regier. Dr. Regier is the director of American Psychiatric Institute for Research and Education the research and education branch of the American Psychiatric Association and the organization within the APA that will oversee the DSM revision. The discussion is by Marc Schuckit, who was chair of the Substance Use disorders (SUD) Committee for DSM-IV and cochair of the international group of experts reviewing the SUD definitions for DSM-V. PMID:16441279

  16. Virtual Reality to Train Diagnostic Skills in Eating Disorders. Comparison of two Low Cost Systems.

    PubMed

    Gutiérrez-Maldonado, José; Ferrer-García, Marta; Plasanjuanelo, Joana; Andrés-Pueyo, Antonio; Talarn-Caparrós, Antoni

    2015-01-01

    Enhancing the ability to perform differential diagnosis and psychopathological exploration is important for students who wish to work in the clinical field, as well as for professionals already working in this area. Virtual reality (VR) simulations can immerse students totally in educational experiences in a way that is not possible using other methods. Learning in a VR environment can also be more effective and motivating than usual classroom practices. Traditionally, immersion has been considered central to the quality of a VR system; immersive VR is considered a special and unique experience that cannot achieved by three-dimensional (3D) interactions on desktop PCs. However, some authors have suggested that if the content design is emotionally engaging, immersive systems are not always necessary. The main purpose of this study is to compare the efficacy and usability of two low-cost VR systems, offering different levels of immersion, in order to develop the ability to perform diagnostic interviews in eating disorders by means of simulations of psychopathological explorations. PMID:26799883

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

    PubMed

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

    2010-04-30

    The requirement that trauma survivors experience fear, helplessness or horror (Criterion A2) as a part of their posttraumatic stress disorder (PTSD) diagnosis was introduced into DSM-IV. The imminent re-definition of PTSD in DSM-V highlights the need for empirical studies to validate the utility of the A2 requirement. We aimed to identify (i) how often A2 was associated with PTSD (B-F criteria) at 3 months after trauma and (ii) what was the peritraumatic emotional experience for those who met PTSD criteria but were A2 negative. In a prospective design cohort study we assessed the peritraumatic emotional experience of 535 injury patients in four Australian hospitals. These patients were followed up 3 months later and assessed for PTSD using a structured clinical interview. The majority of those who developed PTSD (B-F criterion) at 3 months met A2 criteria. A substantial minority, however (23%), did not meet A2 criteria. Those PTSD patients who were A2 negative fell into three groups: (i) those who experienced subthreshold levels of A2; (ii) those who experienced intense peritrauma emotional responses other than fear, helplessness or horror; and (iii) those who were amnesic to their peritrauma emotional experience. These findings do not support the inclusion of A2 as diagnostic requirement for DSM-V. PMID:20207009

  18. 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

  19. 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. PMID:11491481

  20. Emotional disorders in patients with different types of pituitary adenomas and factors affecting the diagnostic process.

    PubMed

    Flitsch, J; Spitzner, S; Lüdecke, D K

    2000-01-01

    A prospective study of 48 patients with pituitary adenomas, 19 adenomas causing Cushing's disease, 18 adenomas causing acromegaly, and 11 clinically hormone-inactive adenomas (inactive adenomas), was performed to study emotional disorders occurring before and after transsphenoidal microsurgery. Factors which led to an obvious delay in the diagnostic process were identified. - The tools utilised were an interview and repeated personality assessments. The personality assessments were begun preoperatively and continued for about half a year postoperatively. The interview data, including retrospective statements regarding somatic difficulties, was analysed. - The thesis of a uniform psychopathology due to the influence of elevated hormone levels, and a lack in patients' sensitivity towards their changed appearance in acromegaly could not be confirmed. A high variability of reported emotional problems was found. The most common psychopathological signs for Cushing's disease were excitability and depression, for acromegaly fatigue/loss of energy was the most frequent complaint. Six to eight months postoperatively, a majority of patients noticed an increase of physical well-being. In acromegaly, the time span between first consultation and diagnosis averaged 6.2 years, in Cushing's disease it was 4.3 years, and in inactive adenomas it was 3.9 years. Only a small part of the delay in diagnosis, less than two years, could be attributed to the patients' hesitation to consult a physician. PMID:11083069

  1. Confirmed Zika virus infection in a Belgian traveler returning from Guatemala, and the diagnostic challenges of imported cases into Europe.

    PubMed

    De Smet, Birgit; Van den Bossche, Dorien; van de Werve, Charlotte; Mairesse, Jacques; Schmidt-Chanasit, Jonas; Michiels, Jo; Ariën, Kevin K; Van Esbroeck, Marjan; Cnops, Lieselotte

    2016-07-01

    We report the first laboratory-confirmed Zika virus (ZIKV) infection in a Belgian traveler after a three week holiday in Guatemala, December 2015. This case along with other imported cases into Europe emphases once again the need for accurate diagnostic tools for this rapidly emerging virus. The challenge is to diagnose patients in the acute phase, which appears short, as serological testing is complicated by cross-reactivity, vaccination status and scarce availability of specific ZIKV tests. PMID:27128355

  2. 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. PMID:25859771

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

    PubMed

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

    2014-06-01

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

  4. 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

  5. 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

  6. Enterprises and challenges in diagnostics for precision medicine: an interview with Eddie Blair.

    PubMed

    Blair, Eddie; Raison, Claire

    2015-01-01

    Interview with Dr Eddie Blair, PhD, by Claire Raison (Commissioning Editor) Dr Eddie Blair is Managing Director of Integrated Medicines Ltd (Cambridge, UK), a company he formed in 2003 to enable precision medicine by combining diagnostic testing with new and existing medicines. Dr Blair has raised angel and private equity investments in excess of £12 million, has published over 40 primary peer-reviewed papers, including a series on companion diagnostic valuation, and is named inventor on at least 12 patents. Dr Blair is a member of the Editorial Advisory Board of Expert Review of Molecular Diagnostics and speaks to the Commissioning Editor here about entrepreneurship, obstacles and potential of introducing diagnostics innovations into routine clinical practice. PMID:26560159

  7. 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. PMID:26167220

  8. 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

  9. 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

  10. 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)…

  11. 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. PMID:21191531

  12. 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…

  13. Using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-Generic for the Diagnosis of Autism Spectrum Disorders in a Greek Sample with a Wide Range of Intellectual Abilities

    ERIC Educational Resources Information Center

    Papanikolaou, Katerina; Paliokosta, Elena; Houliaras, Giorgos; Vgenopoulou, Sofia; Giouroukou, Eleni; Pehlivanidis, Artemios; Tomaras, Vlassis; Tsiantis, Ioannis

    2009-01-01

    We studied the interrelationship between the Autism Diagnostic Observation Schedule-Generic (ADOS-G), the Autism Diagnostic Interview-Revised (ADI-R) and DSM-IV clinical diagnosis, in a Greek sample of 77 children and adolescents, referred for the assessment of a possible pervasive developmental disorder (PDD) and presenting a wide range of…

  14. 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. PMID:26194738

  15. 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. PMID:25364943

  16. Treatment of bipolar disorders during pregnancy: maternal and fetal safety and challenges

    PubMed Central

    Epstein, Richard A; Moore, Katherine M; Bobo, William V

    2015-01-01

    Treating pregnant women with bipolar disorder is among the most challenging clinical endeavors. Patients and clinicians are faced with difficult choices at every turn, and no approach is without risk. Stopping effective pharmacotherapy during pregnancy exposes the patient and her baby to potential harms related to bipolar relapses and residual mood symptom-related dysfunction. Continuing effective pharmacotherapy during pregnancy may prevent these occurrences for many; however, some of the most effective pharmacotherapies (such as valproate) have been associated with the occurrence of congenital malformations or other adverse neonatal effects in offspring. Very little is known about the reproductive safety profile and clinical effectiveness of atypical antipsychotic drugs when used to treat bipolar disorder during pregnancy. In this paper, we provide a clinically focused review of the available information on potential maternal and fetal risks of untreated or undertreated maternal bipolar disorder during pregnancy, the effectiveness of interventions for bipolar disorder management during pregnancy, and potential obstetric, fetal, and neonatal risks associated with core foundational pharmacotherapies for bipolar disorder. PMID:25565896

  17. Treatment of bipolar disorders during pregnancy: maternal and fetal safety and challenges.

    PubMed

    Epstein, Richard A; Moore, Katherine M; Bobo, William V

    2015-01-01

    Treating pregnant women with bipolar disorder is among the most challenging clinical endeavors. Patients and clinicians are faced with difficult choices at every turn, and no approach is without risk. Stopping effective pharmacotherapy during pregnancy exposes the patient and her baby to potential harms related to bipolar relapses and residual mood symptom-related dysfunction. Continuing effective pharmacotherapy during pregnancy may prevent these occurrences for many; however, some of the most effective pharmacotherapies (such as valproate) have been associated with the occurrence of congenital malformations or other adverse neonatal effects in offspring. Very little is known about the reproductive safety profile and clinical effectiveness of atypical antipsychotic drugs when used to treat bipolar disorder during pregnancy. In this paper, we provide a clinically focused review of the available information on potential maternal and fetal risks of untreated or undertreated maternal bipolar disorder during pregnancy, the effectiveness of interventions for bipolar disorder management during pregnancy, and potential obstetric, fetal, and neonatal risks associated with core foundational pharmacotherapies for bipolar disorder. PMID:25565896

  18. 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

  19. 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. PMID:23963543

  20. 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…

  1. Primary systemic amyloidosis as a real diagnostic challenge – case study

    PubMed Central

    Jerzykowska, Sonia; Gil, Lidia A.; Balcerzak, Andrzej; Pupek-Musialik, Danuta; Komarnicki, Mieczysław A.

    2014-01-01

    Primary amyloidosis (AL) is a rare variety of plasma cell dyscrasia, the diagnosis of which is often difficult to establish. Pathogenesis of amyloidosis involves extracellular deposition of insoluble protein fibrils in tissues, leading to insufficiency of affected organs. According to various sources, mean survival rate of patients with primary amyloidosis ranges from 12 to 24 months, making primary amyloidosis a disease with a very poor prognosis. Survival rate is significantly lowered in case of cardiac manifestation of amyloidosis (about 6 months survival in untreated patients). In recent years a considerable progress in AL treatment has been observed. Nowadays we are able not only to delay progression of amyloidosis, but also to improve the function of the affected organs. Unfortunately as first signs and symptoms of AL are usually nonspecific, the diagnosis of AL is often delayed, resulting in late introduction of optimal therapy. There are many diagnostic tests which can be used in diagnostic process of amyloidosis, i.e. electrophoresis, serum and urine immunofixation or affected organs and bone marrow biopsy. On establishing the diagnosis in a patient with suspected amyloidosis it should be remembered that particular diagnostic methods vary considerably in sensitivity. The aim of this paper is to present a case report of a 27-year-old patient with primary amyloidosis focusing on diagnostic aspect of this condition. On the basis of this case, the authors would like to emphasize the value of precise diagnostic process, with immunological techniques playing undoubtedly a crucial role. PMID:26155101

  2. Psychiatric disorders in 8-9-year-old children based on a diagnostic interview with the parents.

    PubMed

    Almqvist, F; Puura, K; Kumpulainen, K; Tuompo-Johansson, E; Henttonen, I; Huikko, E; Linna, S; Ikäheimo, K; Aronen, E; Katainen, S; Piha, J; Moilanen, I; Räsänen, E; Tamminen, T

    1999-01-01

    Using three questionnaires, the Rutter Parent Questionnaire (RA2), The Rutter Teacher Questionnaire (RB2) and the Children's Depression Inventory (CDI), we screened 8-9-year-old children representing a total annual birth cohort (N = 60007) in Finland. In a second stage we interviewed the parents of 119 screen negative, and 316 screen positive children by using a structured parent interview. At the population level the overall prevalence rate for psychiatric disturbance was 21.8%, higher among boys (29.8%) than among girls (12.8%). Nine percent of the children were in urgent need of treatment and, in addition, 25% were in need of assessment. The prevalence of different levels of disturbance was: reactive 9.5%; neurotic 18.4%; borderline 3.1%; and other severe disorders 2.3%. The prevalence of different diagnostic groups were: anxiety disorder 5.2%; depressive disorder 6.2%; specific fears 2.4%; defiant and conduct disorder 4.7%; and attention-deficit hyperactivity-disorder 7.1%. The prevalence for the most common single first Axis-I DSM-III-R diagnoses were: attention-deficit hyperactivity-disorder 7%; dysthymia 4.6%; adjustment disorder with mixed disturbance of emotion and conduct 3.4%; oppositional defiant disorder 2.7%; specific fear 1.7%; anxiety disorder 1.5%; enuresis nocturnal 1.5%; and depression 1.4%. Only 3.1% of the children had visited health professionals for psychiatric problems during the previous three months. Only a minority of the children with psychiatric disturbances had ever consulted health professionals for their problems. Of all the children, 7.5% had a severe psychiatric disturbance that had lasted for more than 3 years. PMID:10654130

  3. Uncertain prognosis for high-quality diagnostics: clinical challenges, economic barriers and needed reforms.

    PubMed

    Trusheim, Mark R; Austin, M J Finley; Rausch, Carsten; Berndt, Ernst R

    2013-02-01

    Quality healthcare, as measured by outcomes and costs, needs high-quality diagnostics whose use governs the evidence-based flow of patients from screening to treatment to outcomes monitoring. The current patent, regulatory and reimbursement environment may be inadequate to spur their development, thereby placing in jeopardy the goals of healthcare reform and the aspirations of personalized medicine. Policy actions to ensure consistent quality standards and to increase development incentives through research support, reimbursement reform, increased intellectual property protection and market-making activities may be required to obtain the well-characterized, clinically proven diagnostics that US healthcare requires. PMID:23394394

  4. Deletion in the gene BruAb2_0168 of Brucella abortus strains: diagnostic challenges

    PubMed Central

    Dean, A S; Schelling, E; Bonfoh, B; Kulo, A E; Boukaya, G A; Pilo, P; Raoult, D

    2014-01-01

    Three Brucella abortus strains were isolated from joint hygromas from cows in northern Togo. Two deletions in the 5′ side of the gene BruAb2_0168 were identified. As this gene is used for species identification, these deletions have consequences for diagnostic procedures. Multiple locus variable number of tandem repeat (VNTR) analysis was therefore performed for species identification. The strains showed unique VNTR profiles, providing some of the first genotypic data from West Africa. More molecular and epidemiological data are needed from the region, in order to better understand transmission patterns and develop suitable diagnostic assays. PMID:24450581

  5. 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. PMID:23504376

  6. 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

  7. 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

    2016-01-01

    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

  8. 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

  9. Developmental Language Disorders: Challenges and Implications of Cross-Group Comparisons

    PubMed Central

    Ellis Weismer, Susan

    2014-01-01

    Historically, specific language impairment (SLI) and language deficits associated with autism spectrum disorders (ASD) have been viewed as distinct developmental language disorders. However, over the last decade or so a considerable amount of research has explored general similarities or specific areas of overlap between children with SLI and ASD based on language and cognitive profiles, neuroimaging findings, and genetic research. The clinical classification schemes that are used to identify the children necessarily influence the extent to which SLI and ASD are viewed as overlapping or distinct conditions. Yet, the criteria used to diagnosis these two populations vary across countries and even across investigators within a given country. This necessarily impacts the findings from comparative investigations of these groups. With these challenges in mind, clinical implications of evidence for similarities and distinctions between children with SLI and ASD will be discussed with respect to differential diagnosis and treatment. PMID:23942044

  10. A case of synchronous isolated thyroid metastasis from a primary lung cancer presenting as thyroid primary: Diagnostic challenge!

    PubMed Central

    Hulikal, Narendra; Naru, Ramana Reddy; Gangasani, Revanth; Nandyala, Rukmangadha; Pai, Ananth; Meenakshisundaram, Manickavasgam

    2016-01-01

    The thyroid metastasis from any primary is rare, and usually is a late event and presents as a thyroid swelling. Further, the diagnosis of a metastatic lesion in a patient with no antecedent history of any malignancy can be very challenging. Recently, a patient presented to us with a history of diagnostic evaluation suggesting a primary thyroid malignancy with a synchronous lung primary. After surgery for the thyroid swelling, final histopathology revealed a metastatic lesion from a lung primary. Here, we discuss this rare case of isolated synchronous thyroid metastasis from a lung primary and review the relevant literature. PMID:27186001

  11. 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…

  12. Brain and other nervous system disorders across the lifespan - global challenges and opportunities.

    PubMed

    Silberberg, Donald; Anand, Nalini P; Michels, Kathleen; Kalaria, Raj N

    2015-11-19

    This is an exciting time for scientific discovery that aims to reduce the frequency and impact of neurological, mental health and substance-use disorders. As it became increasingly clear that low- and middle-income countries have a disproportionate share of these disorders, and that many of the problems are best addressed by indigenous researchers who can seek context-sensitive solutions, the US National Institutes of Health and other research funders began to invest more in low- and middle-income country-focused research and research capacity-building to confront this significant public health challenge. In an effort to identify existing information, knowledge gaps, and emerging research and research capacity-building opportunities that are particularly relevant to low- and middle-income countries, in February 2014 the Center for Global Health Studies at the National Institutes of Health Fogarty International Center held a workshop to explore these issues with scientific experts from low- and middle-income countries and the United States. This evolved into the preparation of the Reviews in this supplement, which is designed to highlight opportunities and challenges associated with topical areas in brain-disorders research over the coming decade. This Introduction highlights some of the over-arching and intersecting priorities for addressing causes, prevention, treatment and rehabilitation as well as best practices to promote overall nervous system health. We review some brain disorders in low- and middle-income countries, while the Reviews describe relevant issues and the epidemiology of particular conditions in greater depth. PMID:26580320

  13. Waldenström's macroglobulinemia as a diagnostic challenge: case report.

    PubMed

    Budimir, Ivan; Nikolić, Marko; Pusić, Mateja Sabol; Hrabar, Davor; Ljubicić, Neven; Duvnjak, Marko; Supanc, Vladimir; Nikolac, Ivana; Babić, Nenad; Sokcević, Marija

    2014-03-01

    Waldenström's macroglobulinemia is a distinct clinicopathologic entity defined as a B-cell neoplasm characterized by lymphoplasmacytic infiltrate in the bone marrow, with an associated immunoglobulin (Ig) M paraprotein. Clinical manifestations are due to deposition of IgM in the liver, spleen, and/or lymph nodes, so it presents with anemia, hyperviscosity, lymphadenopathy, hepatomegaly, splenomegaly and neurologic symptoms. The main diagnostic criteria are a typical peak on serum protein electrophoresis and malignant cells in bone marrow biopsy samples. There is no standard therapy for the treatment of symptomatic Waldenstrom's macroglobulinemia and no agents have been specifically approved for this disease, but initial treatment usually starts with the monoclonal anti-CD20 antibody rituximab, either alone or in combination with other agents, rather than chemotherapy alone. This article confirms that, despite the existence of more modern imaging methods, ultrasonography still has a significant diagnostic role. PMID:24974671

  14. Opportunities and challenges in the discovery of allosteric modulators of GPCRs for treating CNS disorders

    PubMed Central

    Conn, P. Jeffrey; Lindsley, Craig W.; Meiler, Jens; Niswender, Colleen M.

    2014-01-01

    Novel allosteric modulators of G protein-coupled receptors (GPCRs) are providing fundamental advances in the development of GPCR ligands with high subtype selectivity and novel modes of efficacy that have not been possible with traditional approaches. As new allosteric modulators are advancing as drug candidates, we are developing an increased understanding of the major advantages and broad range of activities that can be achieved with these agents through selective modulation of specific signalling pathways, differential effects on GPCR homodimers versus heterodimers, and other properties. This understanding creates exciting opportunities, as well as unique challenges, in the optimization of novel therapeutic agents for disorders of the central nervous system. PMID:25176435

  15. Translation of proteomic biomarkers into FDA approved cancer diagnostics: issues and challenges

    PubMed Central

    2013-01-01

    Tremendous efforts have been made over the past few decades to discover novel cancer biomarkers for use in clinical practice. However, a striking discrepancy exists between the effort directed toward biomarker discovery and the number of markers that make it into clinical practice. One of the confounding issues in translating a novel discovery into clinical practice is that quite often the scientists working on biomarker discovery have limited knowledge of the analytical, diagnostic, and regulatory requirements for a clinical assay. This review provides an introduction to such considerations with the aim of generating more extensive discussion for study design, assay performance, and regulatory approval in the process of translating new proteomic biomarkers from discovery into cancer diagnostics. We first describe the analytical requirements for a robust clinical biomarker assay, including concepts of precision, trueness, specificity and analytical interference, and carryover. We next introduce the clinical considerations of diagnostic accuracy, receiver operating characteristic analysis, positive and negative predictive values, and clinical utility. We finish the review by describing components of the FDA approval process for protein-based biomarkers, including classification of biomarker assays as medical devices, analytical and clinical performance requirements, and the approval process workflow. While we recognize that the road from biomarker discovery, validation, and regulatory approval to the translation into the clinical setting could be long and difficult, the reward for patients, clinicians and scientists could be rather significant. PMID:24088261

  16. Challenges for CTC-based liquid biopsies: low CTC frequency and diagnostic leukapheresis as a potential solution.

    PubMed

    Stoecklein, Nikolas H; Fischer, Johannes C; Niederacher, Dieter; Terstappen, Leon W M M

    2016-01-01

    Circulating tumor cells (CTCs) are very attractive surrogate markers for systemic cancer. Currently, major efforts are being made to use these rare cells in the sense of a liquid biopsy to gain molecular information for rational therapeutic decision-making. The advancements in molecular analyses of CTCs down to the single-cell level have been significant in recent years and some applications are ready to be used in clinical studies. As discussed in this review, a major challenge for translating such molecular CTC-based assays into the clinic is the extremely low frequency of CTCs and the associated problems of their reliable detection and isolation. A potential solution to overcome the low CTC frequency is the recently introduced diagnostic leukapheresis that permits screening of liters of blood. Discussed here are the challenges as well as the current efforts implementing this method into clinical workflows to realize more reliable liquid biopsies. PMID:26587751

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

    NASA Astrophysics Data System (ADS)

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

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

  18. Opportunities and challenges in modeling human brain disorders in transgenic primates.

    PubMed

    Jennings, Charles G; Landman, Rogier; Zhou, Yang; Sharma, Jitendra; Hyman, Julia; Movshon, J Anthony; Qiu, Zilong; Roberts, Angela C; Roe, Anna Wang; Wang, Xiaoqin; Zhou, Huihui; Wang, Liping; Zhang, Feng; Desimone, Robert; Feng, Guoping

    2016-08-26

    Molecular genetic tools have had a profound impact on neuroscience, but until recently their application has largely been confined to a few model species, most notably mouse, zebrafish, Drosophila melanogaster and Caenorhabditis elegans. With the development of new genome engineering technologies such as CRISPR, it is becoming increasingly feasible to apply these molecular tools in a wider range of species, including nonhuman primates. This will lead to many opportunities for brain research, but it will also pose challenges. Here we identify some of these opportunities and challenges in light of recent and foreseeable technological advances and offer some suggestions. Our main focus is on the creation of new primate disease models for understanding the pathological mechanisms of brain disorders and for developing new approaches to effective treatment. However, we also emphasize that primate genetic models have great potential to address many fundamental questions about brain function, providing an essential foundation for future progress in disease research. PMID:27571191

  19. 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…

  20. Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders.

    PubMed

    Wang, Jing; Zhan, Hongli; Li, Fang-Yuan; Pursley, Amber N; Schmitt, Eric S; Wong, Lee-Jun

    2012-06-01

    Oligonucleotide array-based comparative genomic hybridization (aCGH) targeted to coding exons of genes of interest has been proven to be a valuable diagnostic tool to complement with Sanger sequencing for the detection of large deletions/duplications. We have developed a custom designed oligonucleotide aCGH platform for this purpose. This array platform provides tiled coverage of the entire mitochondrial genome and high-density coverage of a set of nuclear genes involving mitochondrial and metabolic disorders and can be used to evaluate large deletions in targeted genes. A total of 1280 DNA samples from patients suspected of having mitochondrial or metabolic disorders were evaluated using this targeted aCGH. We detected 40 (3%) pathogenic large deletions in unrelated individuals, including 6 in genes responsible for mitochondrial DNA (mtDNA) depletion syndromes, 23 in urea cycle genes, 11 in metabolic and related genes. Deletion breakpoints have been confirmed in 31 cases by PCR and sequencing. The possible deletion mechanism has been discussed. These results illustrate the successful utilization of targeted aCGH to detect large deletions in nuclear and mitochondrial genomes. This technology is particularly useful as a complementary diagnostic test in the context of a recessive disease when only one mutant allele is found by sequencing. For female carriers of X-linked disorders, if sequencing analysis does not detect point mutations, targeted aCGH should be considered for the detection of large heterozygous deletions. PMID:22494545

  1. An attempt to use the peritoneal cavity fluid in the diagnostics of acid-base balance disorders in dogs.

    PubMed

    Sławuta, P; Glińska-Suchocka, K

    2013-01-01

    The acid-base balance parameters (ABB) of blood are used in the diagnostics and therapy of acidosis or alkalosis type disorders. Nowadays, some reports on the attempts to use the body cavity fluid for the diagnostics of the ABB disorders have appeared in the human medicine. The study has aimed at comparing the acid-base balance parameters (ABB): pH, pCO2, and HCO3(-) determined in the arterial blood and the fluid from the peritoneal cavity in dogs. The study was carried out on 20 dogs suffering from ascites developed as a result of the chronic renal failure. 1 ml of full blood was drawn from each dog from its femoral artery to a heparinized syringe equipped with a needle with an internal diameter of 0.7 mm and the puncture of the abdominal cavity was carried out in the white line. In the sample of arterial blood and the sample of the abdominal cavity fluid drawn the ABB parameters were determined. In the group examined, the ABB parameters determined for the arterial blood and the fluid had comparable numeric values and the same nature of the ABB disorder diagnosed on the basis of them. The conclusions are as follows: the results of the effusion fluid gasometry depend on the mechanism of the fluid formation and, in the case when it comes from the developed capillary network, a pressure of gases and remaining ABB parameters are similar to those determined for the arterial blood. PMID:24195280

  2. Strengths and limitations of microarray-based phenotype prediction: lessons learned from the IMPROVER Diagnostic Signature Challenge

    PubMed Central

    Tarca, Adi L.; Lauria, Mario; Unger, Michael; Bilal, Erhan; Boue, Stephanie; Kumar Dey, Kushal; Hoeng, Julia; Koeppl, Heinz; Martin, Florian; Meyer, Pablo; Nandy, Preetam; Norel, Raquel; Peitsch, Manuel; Rice, Jeremy J.; Romero, Roberto; Stolovitzky, Gustavo; Talikka, Marja; Xiang, Yang; Zechner, Christoph

    2013-01-01

    Motivation: After more than a decade since microarrays were used to predict phenotype of biological samples, real-life applications for disease screening and identification of patients who would best benefit from treatment are still emerging. The interest of the scientific community in identifying best approaches to develop such prediction models was reaffirmed in a competition style international collaboration called IMPROVER Diagnostic Signature Challenge whose results we describe herein. Results: Fifty-four teams used public data to develop prediction models in four disease areas including multiple sclerosis, lung cancer, psoriasis and chronic obstructive pulmonary disease, and made predictions on blinded new data that we generated. Teams were scored using three metrics that captured various aspects of the quality of predictions, and best performers were awarded. This article presents the challenge results and introduces to the community the approaches of the best overall three performers, as well as an R package that implements the approach of the best overall team. The analyses of model performance data submitted in the challenge as well as additional simulations that we have performed revealed that (i) the quality of predictions depends more on the disease endpoint than on the particular approaches used in the challenge; (ii) the most important modeling factor (e.g. data preprocessing, feature selection and classifier type) is problem dependent; and (iii) for optimal results datasets and methods have to be carefully matched. Biomedical factors such as the disease severity and confidence in diagnostic were found to be associated with the misclassification rates across the different teams. Availability: The lung cancer dataset is available from Gene Expression Omnibus (accession, GSE43580). The maPredictDSC R package implementing the approach of the best overall team is available at www.bioconductor.org or http://bioinformaticsprb.med.wayne.edu/. Contact

  3. 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. PMID:26768566

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

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

    PubMed

    Sanders, James L

    2011-12-01

    Historically, the Diagnostic and Statistical Manual of Mental Disorders (DSM) has met an important need in defining a common language of psychiatric diagnosis in North America. Understanding the development of the DSM can help researchers and practitioners better understand this diagnostic language. The history of the DSM, from its precursors to recent proposed revisions for its fifth edition, is reviewed and compared while avoiding the presentist bias. The development of DSM resembles a historic pendulum, from DSM-I emphasizing psychodynamics and causality to DSM-III and DSM-IV emphasizing empiricism and logical positivism. The proposed changes in etiological- and dimensional-based classification for DSM-V represent a slight backswing toward the center. PMID:22114794

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. Single-cell analysis of CTCs with diagnostic precision: opportunities and challenges for personalized medicine.

    PubMed

    Alberter, Barbara; Klein, Christoph A; Polzer, Bernhard

    2016-01-01

    The generation of variant cancer cells is the major cause of acquired resistance against systemic therapies and consequently, of our inability to cure advanced cancer patients. Circulating tumor cells are gaining increasing clinical attention because they may enable the monitoring cancer progression and adjustment of treatment. In recent years multiple technologies for enrichment, isolation as well as molecular and functional analysis of circulating tumor cells have been developed. Implementation of these technologies in standardized and automated workflows in clinical diagnostics could provide valuable information for real-time monitoring of cancer and eventually new therapeutic strategies for the benefit of patients. PMID:26567956

  12. Influence of Weight on Shared Core Symptoms in Eating Disorders: Support or Challenge for a Transdiagnostic Perspective?

    PubMed

    Schmitz, Catalina; Schnicker, Katja; Legenbauer, Tanja

    2016-09-01

    In terms of the transdiagnostic model of eating disorders, Anorexia Nervosa (AN), Bulimia Nervosa (BN), and Binge Eating Disorder (BED) share the same distinctive psychopathology. However, empirical evidence showing similarities between these eating disorder diagnoses for core symptoms is scarce, and the role of weight status is unclear. Data from a total of 168 female participants were collected between April 2004 and April 2008, at an outpatient unit specialized in eating disorder treatment. Core symptoms of eating disorders were measured via self-report questionnaires. In particular, women with BED and BN showed similar patterns of core symptomatology compared with AN. However, when body mass index (BMI) was considered in the analyses, there were no differences between the three diagnostic groups in relation to body image. Differences in eating behavior are not solely triggered by weight differences, whereas body image disturbances are a transdiagnostic phenomenon among EDs and should also be considered in the treatment of BED. PMID:27118052

  13. 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. PMID:25979620

  14. Teaching about Psychological Disorders: Using a Group Interviewing and Diagnostic Approach

    ERIC Educational Resources Information Center

    Tomcho, Thomas J.; Wolfe, Wendy L.; Foels, Rob

    2006-01-01

    We designed a cooperative learning classroom activity to enhance students' ability to understand psychological disorders and distinguish among anxiety, mood, and psychotic disorders. We employed a group interviewing approach with the instructor (or a graduate student) serving as the pseudo-client. Students interacted with a pseudo-client to arrive…

  15. 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...

  16. 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…

  17. 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

  18. [Adaptation of the Composite International Diagnostic Interview (CIDI) for the assessment of comorbid mental disorders in oncology patients: the CIDI-O].

    PubMed

    Hund, Bianca; Reuter, Katrin; Jacobi, Frank; Siegert, Jens; Wittchen, Hans-Ulrich; Härter, Martin; Mehnert, Anja

    2014-03-01

    This article describes the development of an oncology-specific adaptation of the Composite Diagnostic International Interview (CIDI) for the assessment of comorbid mental disorders in cancer patients. The specific problems related to the assessment of mental disorders in cancer patients are described, in particular the overlap of somatic and mental symptoms as well as the insufficiently elaborated assessment of adjustment disorders and cancer related posttraumatic stress using structured and standardized procedures. The modification strategies that fostered the development of the CIDI-Oncology (CIDI-O) are described. Primary purpose of this adaptation is to enhance the diagnostic spectrum of the CIDI adding the diagnostic group of stress-related mental disorders. PMID:24343310

  19. Validity of the copper/zinc ratio as a diagnostic marker for taste disorders associated with zinc deficiency.

    PubMed

    Yanagisawa, Hiroyuki; Kawashima, Toru; Miyazawa, Mai; Ohshiro, Tadahiro

    2016-07-01

    Although zinc (Zn) deficiency is often suspected in patients with taste disorders, it may be difficult to diagnose Zn deficiency, especially in patients without any clear risk factors. Accordingly, the aim of the present study was to detect possible markers for taste disorders or zinc deficiency. To achieve this aim, we analyzed data obtained from 122 Japanese men who were not using medicines and had no diseases requiring treatment. We evaluated the following factors: awareness of dysgeusia; salty taste recognition threshold (SRT); the serum concentrations of Zn, copper (Cu), iron, alkaline phosphatase, and albumin; and the Cu/Zn ratio. The serum Cu/Zn ratio was positively correlated with the both the SRT and the awareness of dysgeusia. The serum Zn concentration was not correlated with the SRT or the awareness of dysgeusia in univariate analyses. However, in multivariate logistic regression, the serum Zn concentration was associated with the awareness of dysgeusia. In conclusion, the serum Cu/Zn ratio is a good diagnostic marker for taste disorders and the value of 1.1 may be a threshold level for detecting taste disorders. PMID:27259356

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

    PubMed

    Vandereycken, Walter

    2011-01-01

    Many "new" syndromes have been proposed for inclusion in the DSM-V. Some disorders acquired popularity through the Internet, but will they be taken seriously and get accepted by the scientific community? We organized an opinion poll among professionals in the field of eating disorders by presenting them a provisional set of diagnostic criteria of four "new" disorders: Night Eating Syndrome, Orthorexia, Muscle Dysmorphia, and Emetophobia. In general, the opinions did not differ much according to the characteristics of the 111 respondents. Among these professionals, Orthorexia is the best known and Night Eating Syndrome the least. Although the majority is familiar with the concept of Muscle Dysmorphia, it is most often viewed as a creation of the popular media and rarely observed in daily practice. In contrast, the other three disorders seem to be taken more seriously in the sense of "genuine" syndromes, which should receive more attention in research and clinical practice. Emetophobia appears to be the least "fashionable" of the four. The findings are discussed in the light of medialization and medicalization. PMID:21360365

  1. Unilateral Obstructive Emphysema in Infancy due to Mediastinal Bronchogenic Cyst-Diagnostic Challenge and Management.

    PubMed

    Vimala, Leena Robinson; Sathya, Ravi Kishore Barla Sri; Lionel, Arul Premanand; Kishore, Jeenapalli Srinivasa; Navamani, Kirubakaran

    2015-05-01

    Bronchogenic cysts are the most common cystic mediastinal lesion in children. Bronchogenic cyst causing unilateral obstructive emphysema is a rare presentation. We report the case of a one and half month old infant who presented with respiratory distress which was initially suspected as left pneumothorax on frontal chest radiograph but was later found to be due to hyperinflated left lung and hence the possibility of congenital lobar emphysema was considered. CT thorax and limited MRI sections revealed a cystic lesion in mediastinum causing obstructive emphysema and mediastinal displacement. He underwent an emergency thoracotomy and excision of the cyst via an extrapleural approach. Post operatively, rapid improvement of the infant was noticed both clinically as well as radiologically. Cross sectional imaging like CT or MR is required for reaching the correct and early diagnosis in paediatric patients with respiratory distress, when there is diagnostic dilemma based on chest radiograph. PMID:26155530

  2. Müllerian agenesis in the presence of anorectal malformations in female newborns: a diagnostic challenge

    PubMed Central

    Teo, Xin Ling; Narasimhan, Kannan Laksmi; Chua, Joyce Horng Yiing

    2015-01-01

    Rectovestibular fistula is the most common type of anomaly found in a female newborn with anorectal malformation. However, when the baby is found to have two orifices in the introitus, rectovaginal fistula is much less common and suspected. The rare differential diagnosis of Müllerian agenesis, a condition in which the rectum shifts anteriorly and the vagina is absent, is seldom considered. In many cases, the diagnosis of Müllerian agenesis is made only during definitive anorectoplasty. In view of its impact on management, a proper examination under anaesthesia, imaging studies and a diagnostic laparoscopy may be required to confirm the presence or absence of Müllerian structures in such patients. We herein describe a patient with the rare coexistence of VACTERL association and Müllerian agenesis, and discuss the management of anorectal malformations in female patients with Müllerian agenesis. PMID:26034325

  3. Diagnostic challenges of sexually transmitted infections in resource-limited settings.

    PubMed

    Peeling, Rosanna W; Ronald, Allan

    2009-12-01

    The global burden of sexually transmitted infections (STIs) is highest in the developing world where access to laboratory services is limited. Sophisticated laboratory diagnostic tests using noninvasive specimens have enabled developed countries to screen and diagnose curable STIs in a variety of settings, but control programs in resource-limited settings continue to struggle to find simple rapid tests that can provide adequate performance in the absence of laboratory services. While recent technological advances and investments in research and development may soon yield improved STI tests that can make an impact, these tests will need to be deployed within a health system that includes: regulatory oversight, quality assurance, good supply-chain management, effective training, information systems and a sound surveillance system to monitor disease trends, inform policy decisions and assess the impact of interventions. PMID:19995188

  4. Vertex epidural hematoma: A rare cause of post-traumatic headache and a diagnostic challenge

    PubMed Central

    Navarro, Juliano Nery; Alves, Raphael Vicente

    2016-01-01

    Background: Vertex epidural hematomas (VEH) account for only 8% of all epidural hematomas. However, these traumatic injuries may be underestimated or overlooked altogether when only computed tomography (CT) scans are used for diagnosis. The vertex may be a potential anatomic “blind spot” on this radiological method. In such cases, magnetic resonance (MRI) offers a great diagnostic aid. Case Description: This manuscript reports a patient of a head trauma who developed progressive and intractable headache. MRI made the diagnosis of progressive VEH and highlighted the detachment of the superior sagittal sinus by the hematoma. Surgical treatment, because of the refractory clinical findings, was performed with good postoperative recovery. Conclusion: Multiple trauma patients with progressive and refractory headache should have their head CT thoroughly reviewed and, if necessary, be investigated with MRI.

  5. Müllerian agenesis in the presence of anorectal malformations in female newborns: a diagnostic challenge.

    PubMed

    Teo, Xin Ling; Narasimhan, Kannan Laksmi; Chua, Joyce Horng Yiing

    2015-05-01

    Rectovestibular fistula is the most common type of anomaly found in a female newborn with anorectal malformation. However, when the baby is found to have two orifices in the introitus, rectovaginal fistula is much less common and suspected. The rare differential diagnosis of Müllerian agenesis, a condition in which the rectum shifts anteriorly and the vagina is absent, is seldom considered. In many cases, the diagnosis of Müllerian agenesis is made only during definitive anorectoplasty. In view of its impact on management, a proper examination under anaesthesia, imaging studies and a diagnostic laparoscopy may be required to confirm the presence or absence of Müllerian structures in such patients. We herein describe a patient with the rare coexistence of VACTERL association and Müllerian agenesis, and discuss the management of anorectal malformations in female patients with Müllerian agenesis. PMID:26034325

  6. Spectroscopic Challenges in the Modelling and Diagnostics of High Temperature Air Plasma Radiation for Aerospace Applications

    SciTech Connect

    Laux, Christophe O.

    2007-04-06

    State-of-the-art spectroscopic models of the radiative transitions of interest for Earth re-entry and ground-based diagnostic facilities for aerospace applications are reviewed. The spectral range considered extends from the vacuum ultraviolet to the mid-infrared range (80 nm to 5.5 {mu}m). The modeling results are compared with absolute intensity measurements of the ultraviolet-visible-infrared emission of a well-characterized high-temperature air plasma produced with a 50 kW inductively coupled radio-frequency plasma torch, and with high-resolution absorption spectra from the Center for Astrophysics in the vacuum ultraviolet. The Spectroscopic data required to better model the spectral features of interest for aerospace applications are discussed.

  7. Pancreatic cystic neoplasms: Review of current knowledge, diagnostic challenges, and management options

    PubMed Central

    Jana, Tanima; Shroff, Jennifer; Bhutani, Manoop S.

    2015-01-01

    Pancreatic cystic lesions are being detected with increasing frequency, largely due to advances in cross-sectional imaging. The most common neoplasms include serous cystadenomas, mucinous cystic neoplasms, intraductal papillary mucinous neoplasms, solid pseudopapillary neoplasms, and cystic pancreatic endocrine neoplasms. Computed tomography (CT), magnetic resonance imaging (MRI), and endoscopic ultrasound (EUS) are currently used as imaging modalities. EUS-guided fine needle aspiration has proved to be a useful diagnostic tool, and enables an assessment of tumor markers, cytology, chemistries, and DNA analysis. Here, we review the current literature on pancreatic cystic neoplasms, including classification, diagnosis, treatment, and recommendations for surveillance. Data for this manuscript was acquired via searching the literature from inception to December 2014 on PubMed and Ovid MEDLINE. PMID:25821410

  8. Proton pump inhibitor-responsive oesophageal eosinophilia: an entity challenging current diagnostic criteria for eosinophilic oesophagitis.

    PubMed

    Molina-Infante, Javier; Bredenoord, Albert J; Cheng, Edaire; Dellon, Evan S; Furuta, Glenn T; Gupta, Sandeep K; Hirano, Ikuo; Katzka, David A; Moawad, Fouad J; Rothenberg, Marc E; Schoepfer, Alain; Spechler, Stuart J; Wen, Ting; Straumann, Alex; Lucendo, Alfredo J

    2016-03-01

    Consensus diagnostic recommendations to distinguish GORD from eosinophilic oesophagitis (EoE) by response to a trial of proton pump inhibitors (PPIs) unexpectedly uncovered an entity called 'PPI-responsive oesophageal eosinophilia' (PPI-REE). PPI-REE refers to patients with clinical and histological features of EoE that remit with PPI treatment. Recent and evolving evidence, mostly from adults, shows that patients with PPI-REE and patients with EoE at baseline are clinically, endoscopically and histologically indistinguishable and have a significant overlap in terms of features of Th2 immune-mediated inflammation and gene expression. Furthermore, PPI therapy restores oesophageal mucosal integrity, reduces Th2 inflammation and reverses the abnormal gene expression signature in patients with PPI-REE, similar to the effects of topical steroids in patients with EoE. Additionally, recent series have reported that patients with EoE responsive to diet/topical steroids may also achieve remission on PPI therapy. This mounting evidence supports the concept that PPI-REE represents a continuum of the same immunological mechanisms that underlie EoE. Accordingly, it seems counterintuitive to differentiate PPI-REE from EoE based on a differential response to PPI therapy when their phenotypic, molecular, mechanistic and therapeutic features cannot be reliably distinguished. For patients with symptoms and histological features of EoE, it is reasonable to consider PPI therapy not as a diagnostic test, but as a therapeutic agent. Due to its safety profile, ease of administration and high response rates (up to 50%), PPI can be considered a first-line treatment before diet and topical steroids. The reasons why some patients with EoE respond to PPI, while others do not, remain to be elucidated. PMID:26685124

  9. Evolving eating disorder psychopathology: conceptualising muscularity-oriented disordered eating.

    PubMed

    Murray, Stuart B; Griffiths, Scott; Mond, Jonathan M

    2016-05-01

    Eating disorders, once thought to be largely confined to females, are increasingly common in males. However, the presentation of disordered eating among males is often distinct to that observed in females and this diversity is not accommodated in current classification schemes. Here, we consider the diagnostic and clinical challenges presented by these distinctive presentations. PMID:27143005

  10. Coagulation disorders and their cutaneous presentations: Diagnostic work-up and treatment.

    PubMed

    Dabiri, Ganary; Damstetter, Elizabeth; Chang, Yunyoung; Baiyee Ebot, Emily; Powers, Jennifer Gloeckner; Phillips, Tania

    2016-05-01

    Both inherited and acquired hypercoagulable states can present with nonspecific clinical manifestations, such as petechiae, purpura, livedo reticularis, and ulcerations. A good history and physical examination are crucial to diagnoses of these conditions. Inherited conditions tend to present either in neonatal period or later in life, while acquired conditions typically occur later in life. Diagnostic studies are performed to identify the coagulation cascade deficiency or defect. Treatment primarily hinges on anticoagulation and wound care. In this article, we provide an in-depth analysis of the clinical manifestations, diagnostic considerations, and management options of patients in hypercoagulable states. PMID:27085226

  11. Muscle magnetic resonance imaging of the lower limbs: valuable diagnostic tool in the investigation of childhood neuromuscular disorders.

    PubMed

    Kana, Veronika; Kellenberger, Christian J; Rushing, Elisabeth Jane; Klein, Andrea

    2014-10-01

    Children presenting with neuromuscular symptoms are subject to exhaustive investigations. As it is noninvasive, muscle magnetic resonance imaging (MRI) is an important diagnostic tool in children, yet its impact has so far been mainly studied in small groups of genetically defined diseases, where specific MRI patterns are known. To assess the contribution of muscle MRI of the lower limbs in a diverse cohort of patients, we reviewed the diagnostic findings in 39 patients with a suspected neuromuscular disorder that underwent muscle MRI (28/39), biopsy (26/39), or both (18/39). MRI was performed without sedation in 26 of 28 patients at a mean age of 10 years (range, 1-27 years). In 10 of 28 cases (35%), MRI significantly contributed to the final diagnosis, and in 7 of 28 cases (25%), muscle MRI directly instructed genetic testing. These cases included Bethlem myopathy, laminopathy, calpainopathy, and RYR1-related myopathies. Muscle MRI serves as a valuable additional tool to guide diagnosis in suspected neuromuscular disorders in children, especially in cases with nonspecific biopsy findings. PMID:25025777

  12. Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer.

    PubMed

    Da Costa, Lydie; Suner, Ludovic; Galimand, Julie; Bonnel, Amandine; Pascreau, Tiffany; Couque, Nathalie; Fenneteau, Odile; Mohandas, Narla

    2016-01-01

    Inherited red blood cell (RBC) membrane disorders, such as hereditary spherocytosis, elliptocytosis and hereditary ovalocytosis, result from mutations in genes encoding various RBC membrane and skeletal proteins. The RBC membrane, a composite structure composed of a lipid bilayer linked to a spectrin/actin-based membrane skeleton, confers upon the RBC unique features of deformability and mechanical stability. The disease severity is primarily dependent on the extent of membrane surface area loss. RBC membrane disorders can be readily diagnosed by various laboratory approaches that include RBC cytology, flow cytometry, ektacytometry, electrophoresis of RBC membrane proteins and genetics. The reference technique for diagnosis of RBC membrane disorders is the osmotic gradient ektacytometry. However, in spite of its recognition as the reference technique, this technique is rarely used as a routine diagnosis tool for RBC membrane disorders due to its limited availability. This may soon change as a new generation of ektacytometer has been recently engineered. In this review, we describe the workflow of the samples shipped to our Hematology laboratory for RBC membrane disorder analysis and the data obtained for a large cohort of French patients presenting with RBC membrane disorders using a newly available version of the ektacytomer. PMID:26603718

  13. Panic disorder

    MedlinePlus

    ... Anxiety disorder - panic attacks References American Psychiatric Association. Diagnostic and statistical manual of mental disorders . 5th ed. Arlington, VA: American Psychiatric Publishing. 2013. ...

  14. Comparison of Diagnostic Performance Between Visual and Quantitative Assessment of Bone Scintigraphy Results in Patients With Painful Temporomandibular Disorder

    PubMed Central

    Choi, Bong-Hoi; Yoon, Seok-Ho; Song, Seung-Il; Yoon, Joon-Kee; Lee, Su Jin; An, Young-Sil

    2016-01-01

    Abstract This retrospective clinical study was performed to evaluate whether a visual or quantitative method is more valuable for assessing painful temporomandibular disorder (TMD) using bone scintigraphy results. In total, 230 patients (172 women and 58 men) with TMD were enrolled. All patients were questioned about their temporomandibular joint (TMJ) pain. Bone scintigraphic data were acquired in all patients, and images were analyzed by visual and quantitative methods using the TMJ-to-skull uptake ratio. The diagnostic performances of both bone scintigraphic assessment methods for painful TMD were compared. In total, 241 of 460 TMJs (52.4%) were finally diagnosed with painful TMD. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of the visual analysis for diagnosing painful TMD were 62.8%, 59.6%, 58.6%, 63.8%, and 61.1%, respectively. The quantitative assessment showed the ability to diagnose painful TMD with a sensitivity of 58.8% and specificity of 69.3%. The diagnostic ability of the visual analysis for diagnosing painful TMD was not significantly different from that of the quantitative analysis. Visual bone scintigraphic analysis showed a diagnostic utility similar to that of quantitative assessment for the diagnosis of painful TMD. PMID:26765456

  15. Gabapentin induces edema, hyperesthesia and scaling in a depressed patient; a diagnostic challenge

    PubMed Central

    Bidaki, Reza; Sadeghi, Zahra; Shafizadegan, Safiye; Sadeghi, Ali; Khalili, Behrang; Haghshenas, Alireza; Mirhosseini, Seyyed Mohammad Mahdy

    2016-01-01

    Gabapentin is a common drug used as analgesic and anticonvulsant and also is prescribed for insomnia, depression, obsessive – compulsive disorder and panic attack. We report a case of a 48-year-old man who is prescribed gabapentin because of insomnia, headache, and depressed mood. In the first period of using the drug no complication has been seen. However in the next period, side-effects such as hyperesthesia, scaling and severe localized edema has been observed. After several laboratory tests and imaging, no reason was found for his edema. And after discontinuing gabapentin the pain and edema was quite relieved. We found out the brand of the drug has been switched in the second stage. The point which makes our study special is the incidence of side-effects such as severe edema, scaling and hyperesthesia for the first time because of using gabapentin and changing the drug combination. PMID:26955622

  16. Gabapentin induces edema, hyperesthesia and scaling in a depressed patient; a diagnostic challenge.

    PubMed

    Bidaki, Reza; Sadeghi, Zahra; Shafizadegan, Safiye; Sadeghi, Ali; Khalili, Behrang; Haghshenas, Alireza; Mirhosseini, Seyyed Mohammad Mahdy

    2016-01-01

    Gabapentin is a common drug used as analgesic and anticonvulsant and also is prescribed for insomnia, depression, obsessive - compulsive disorder and panic attack. We report a case of a 48-year-old man who is prescribed gabapentin because of insomnia, headache, and depressed mood. In the first period of using the drug no complication has been seen. However in the next period, side-effects such as hyperesthesia, scaling and severe localized edema has been observed. After several laboratory tests and imaging, no reason was found for his edema. And after discontinuing gabapentin the pain and edema was quite relieved. We found out the brand of the drug has been switched in the second stage. The point which makes our study special is the incidence of side-effects such as severe edema, scaling and hyperesthesia for the first time because of using gabapentin and changing the drug combination. PMID:26955622

  17. The Developmental, Dimensional and Diagnostic Interview (3Di): A Novel Computerized Assessment for Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Skuse, David; Warrington, Richard; Bishop, Dorothy; Chowdhury, Uttom; Lau, Jennifer; Mandy, William; Place, Maurice

    2004-01-01

    Objective: Autism is a diagnostic spectrum of variable severity, with significant comorbidity. No existing standardized interview measures autistic features dimensionally. The authors aimed to develop a parental autism interview that could be administered to unselected clinical and general population samples that measures both symptom intensity…

  18. Confirmation among College Women: The Eating Disorders Not Otherwise Specified Diagnostic Profile

    ERIC Educational Resources Information Center

    Schwitzer, Alan; Hatfield, Tammy; Jones, Angela R.; Duggan, Molly H.; Jurgens, Jill; Winninger, Ali

    2008-01-01

    Previously, the researchers proposed and tested a diagnostic framework for women with eating-related concerns who seek college health and mental health treatment. The framework emphasized moderate problems characterized by frequent binging, occasional purging, and frequent exercise; rumination; body image and self-esteem concerns; ambivalence…

  19. Hybrid Intercalated Duct Lesion of the Parotid: Diagnostic Challenges of a Recently Described Entity with Fine Needle Aspiration Findings.

    PubMed

    Mok, Yingting; Pang, Yin Huei; Teh, Ming; Petersson, Fredrik

    2016-06-01

    Intercalated duct lesions (IDL) of the salivary glands are recently described, and encompass both hyperplasia and benign neoplasms that remain incompletely understood. IDLs have been linked to various benign and low-grade malignant salivary gland neoplasms. We herein present a case of a 77 year old woman with an IDL of the parotid composed of both a hyperplastic and an adenomatous component and report, for the first time, the fine needle aspiration findings of such a lesion. This case illustrates the morphologic spectrum of an IDL, as well as challenges in rendering an accurate cytological and histologic diagnosis. The potential diagnostic pitfalls presented by the hybrid pattern of this lesion are also discussed. PMID:26477034

  20. 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. PMID:26867003

  1. Diagnostic Challenges of Cryptococcus neoformans in an Immunocompetent Individual Masquerading as Chronic Hydrocephalus.

    PubMed

    Mahajan, Kedar R; Roberts, Amity L; Curtis, Mark T; Fortuna, Danielle; Dharia, Robin; Sheehan, Lori

    2016-01-01

    Cryptococcus neoformans can cause disseminated meningoencephalitis and evade immunosurveillance with expression of a major virulence factor, the polysaccharide capsule. Direct diagnostic assays often rely on the presence of the cryptococcal glucuronoxylomannan capsular antigen (CrAg) or visualization of the capsule. Strain specific phenotypic traits and environmental conditions influence differences in expression that can thereby compromise detection and timely diagnosis. Immunocompetent hosts may manifest clinical signs and symptoms indolently, often expanding the differential and delaying appropriate treatment and diagnosis. We describe a 63-year-old man who presented with a progressive four-year history of ambulatory dysfunction, headache, and communicating hydrocephalus. Serial lumbar punctures (LPs) revealed elevated protein (153-300 mg/dL), hypoglycorrhachia (19-47 mg/dL), lymphocytic pleocytosis (89-95% lymphocyte, WBC 67-303 mg/dL, and RBC 34-108 mg/dL), and normal opening pressure (13-16 cm H2O). Two different cerebrospinal fluid (CSF) CrAg assays were negative. A large volume CSF fungal culture grew unencapsulated C. neoformans. He was initiated on induction therapy with amphotericin B plus flucytosine and consolidation/maintenance therapy with flucytosine, but he died following discharge due to complications. Elevated levels of CSF Th1 cytokines and decreased IL6 may have affected the virulence and detection of the pathogen. PMID:27525140

  2. Diagnostic Challenges of Cryptococcus neoformans in an Immunocompetent Individual Masquerading as Chronic Hydrocephalus

    PubMed Central

    Fortuna, Danielle; Dharia, Robin

    2016-01-01

    Cryptococcus neoformans can cause disseminated meningoencephalitis and evade immunosurveillance with expression of a major virulence factor, the polysaccharide capsule. Direct diagnostic assays often rely on the presence of the cryptococcal glucuronoxylomannan capsular antigen (CrAg) or visualization of the capsule. Strain specific phenotypic traits and environmental conditions influence differences in expression that can thereby compromise detection and timely diagnosis. Immunocompetent hosts may manifest clinical signs and symptoms indolently, often expanding the differential and delaying appropriate treatment and diagnosis. We describe a 63-year-old man who presented with a progressive four-year history of ambulatory dysfunction, headache, and communicating hydrocephalus. Serial lumbar punctures (LPs) revealed elevated protein (153–300 mg/dL), hypoglycorrhachia (19–47 mg/dL), lymphocytic pleocytosis (89–95% lymphocyte, WBC 67–303 mg/dL, and RBC 34–108 mg/dL), and normal opening pressure (13–16 cm H2O). Two different cerebrospinal fluid (CSF) CrAg assays were negative. A large volume CSF fungal culture grew unencapsulated C. neoformans. He was initiated on induction therapy with amphotericin B plus flucytosine and consolidation/maintenance therapy with flucytosine, but he died following discharge due to complications. Elevated levels of CSF Th1 cytokines and decreased IL6 may have affected the virulence and detection of the pathogen. PMID:27525140

  3. The challenge of Clostridium difficile infection: Overview of clinical manifestations, diagnostic tools and therapeutic options.

    PubMed

    Postma, Nynke; Kiers, Dorien; Pickkers, Peter

    2015-12-01

    The most important infectious cause of antibiotic-associated diarrhoea and colitis is Clostridium difficile, which is a Gram-positive, anaerobic, spore-forming, toxin-producing bacillus. In this overview we will discuss the diagnostic and therapeutic management of patients presenting with suspected or proven C. difficile infection (CDI). The clinical spectrum varies from asymptomatic C. difficile carriers to fulminant colitis with multi-organ failure. The onset of symptoms is usually within 2 weeks after initiation of antibiotic treatment. Diagnosis is based on the combination of clinical symptoms and either a positive stool test for C. difficile toxins or endoscopic or histological findings of pseudomembranous colitis. There is no indication for treatment of asymptomatic carriers, but patients with proven CDI should be treated. Treatment consists of cessation of the provoking antibiotic treatment, secondary prevention by infection control strategies, and treatment with metronidazole or vancomycin. Treatment of recurring CDI, severe infection, the need for surgery, and novel alternative potential treatment strategies will be discussed. The concurrent increase in multiresistant colonisation and increasing numbers of asymptomatic carriers of C. difficile will lead to an increase of the situation in which patients with severe infections, treated with broad-spectrum antibiotics, will develop concurrent severe CDI. We will discuss possible therapy strategies for these patients. PMID:26612229

  4. 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. PMID:21400312

  5. Parenting teens with attention-deficit/hyperactivity disorder: challenges and opportunities.

    PubMed

    Modesto-Lowe, Vania; Chaplin, Margaret; Godsay, Viraj; Soovajian, Victoria

    2014-09-01

    Attention-deficit/hyperactivity disorder (ADHD) presents in childhood with inattention, hyperactivity, and impulsivity and is associated with functional impairments. These children tend to display a variety of disruptive behaviors, which may worsen in adolescence. Teens with ADHD may show high levels of defiance, posing significant challenges for parents. Early efforts to understand parenting in the context of teen ADHD reveal high levels of parental stress and reactivity in response to the teen's ADHD symptoms. Subsequent research recognized that some of these parents have ADHD or other psychopathology that may contribute to maladaptive parenting. However, some parents adjust and demonstrate optimism and resilience in the face of their teens' ADHD. Recent research has identified parental factors (eg, emotional intelligence) and interventions (eg, mindfulness training) that may improve parenting/teen relationships and the developmental outcomes of teens. This article explores parenting teens with ADHD with a focus on these novel interventions. PMID:24982442

  6. Inter-observer agreement for diagnostic classification of esophageal motility disorders defined in high-resolution manometry.

    PubMed

    Fox, M R; Pandolfino, J E; Sweis, R; Sauter, M; Abreu Y Abreu, A T; Anggiansah, A; Bogte, A; Bredenoord, A J; Dengler, W; Elvevi, A; Fruehauf, H; Gellersen, S; Ghosh, S; Gyawali, C P; Heinrich, H; Hemmink, M; Jafari, J; Kaufman, E; Kessing, K; Kwiatek, M; Lubomyr, B; Banasiuk, M; Mion, F; Pérez-de-la-Serna, J; Remes-Troche, J M; Rohof, W; Roman, S; Ruiz-de-León, A; Tutuian, R; Uscinowicz, M; Valdovinos, M A; Vardar, R; Velosa, M; Waśko-Czopnik, D; Weijenborg, P; Wilshire, C; Wright, J; Zerbib, F; Menne, D

    2015-01-01

    High-resolution esophageal manometry (HRM) is a recent development used in the evaluation of esophageal function. Our aim was to assess the inter-observer agreement for diagnosis of esophageal motility disorders using this technology. Practitioners registered on the HRM Working Group website were invited to review and classify (i) 147 individual water swallows and (ii) 40 diagnostic studies comprising 10 swallows using a drop-down menu that followed the Chicago Classification system. Data were presented using a standardized format with pressure contours without a summary of HRM metrics. The sequence of swallows was fixed for each user but randomized between users to avoid sequence bias. Participants were blinded to other entries. (i) Individual swallows were assessed by 18 practitioners (13 institutions). Consensus agreement (≤ 2/18 dissenters) was present for most cases of normal peristalsis and achalasia but not for cases of peristaltic dysmotility. (ii) Diagnostic studies were assessed by 36 practitioners (28 institutions). Overall inter-observer agreement was 'moderate' (kappa 0.51) being 'substantial' (kappa > 0.7) for achalasia type I/II and no lower than 'fair-moderate' (kappa >0.34) for any diagnosis. Overall agreement was somewhat higher among those that had performed >400 studies (n = 9; kappa 0.55) and 'substantial' among experts involved in development of the Chicago Classification system (n = 4; kappa 0.66). This prospective, randomized, and blinded study reports an acceptable level of inter-observer agreement for HRM diagnoses across the full spectrum of esophageal motility disorders for a large group of clinicians working in a range of medical institutions. Suboptimal agreement for diagnosis of peristaltic motility disorders highlights contribution of objective HRM metrics. PMID:25185507

  7. Association between ST8SIA2 and the Risk of Schizophrenia and Bipolar I Disorder across Diagnostic Boundaries

    PubMed Central

    Yang, So Yung; Huh, Ik Soo; Baek, Ji Hyun; Cho, Eun-Young; Choi, Mi Ji; Ryu, Seunghyong; Kim, Ji Sun; Park, Taesung; Ha, Kyooseob; Hong, Kyung Sue

    2015-01-01

    Background Findings from family studies and recent genome-wide association studies have indicated overlap in the risk genes between schizophrenia and bipolar disorder (BD). After finding a linkage between the ST8SIA2 (ST8 alpha-N-acetyl-neuraminide alpha-2, 8-sicalyltransferase 2 gene) locus (15q26) and mixed families with schizophrenia and BD, several studies have reported a significant association between this gene and schizophrenia or BD. We investigated the genetic association between ST8SIA2 and both schizophrenia and BD in the Korean population. Methods A total of 582 patients with schizophrenia, 339 patients with BD, and 502 healthy controls were included. Thirty-one tag single nucleotide polymorphisms (SNPs) across the ST8SIA2 region and three other SNPs showing significant associations in previous studies were genotyped. The associations were evaluated by logistic regression analysis using additive, dominant, and recessive genetic models. Results Fourteen of 34 SNPs showed a nominally significant association (p < 0.05) with at least one diagnostic group. These association trends were strongest for the schizophrenia and combined schizophrenia and bipolar I disorder (BD-I) groups. The strongest association was observed in rs11637898 for schizophrenia (p = 0.0033) and BD-I (p = 0.0050) under the dominant model. The association between rs11637898 and the combined schizophrenia and BD-I group (p = 0.0006, under the dominant model) remained significant after correcting for multiple testing. Discussion We identified a possible role of ST8SIA2 in the common susceptibility of schizophrenia and BD-I. However, no association trend was observed for bipolar II disorder. Further efforts are needed to identify a specific phenotype associated with this gene crossing the current diagnostic categories. PMID:26418860

  8. Challenges in the transition of care for adolescents with attention-deficit/hyperactivity disorder.

    PubMed

    Robb, Adelaide; Findling, Robert L

    2013-07-01

    Attention-deficit/hyperactivity disorder (ADHD) is often considered a childhood disorder. However, in those diagnosed with ADHD as children, inattention, impulsivity, and hyperactivity can persist into adulthood, causing significant functional impairment and emotional distress, even if the condition no longer meets diagnostic criteria. This review examines the developmental and psychosocial factors to consider in adolescents with ADHD and the strategies that facilitate the transition from pediatric to adult care. Our findings are based on PubMed database searches conducted on November 29, 2011, that identified articles pertaining to ADHD and continuity or transition in medical care for adolescents published in English within the 5-year period preceding this date. Adolescents with ADHD face specific burdens associated with transitioning into adulthood that can impede the achievement of academic and occupational goals. The main finding of the literature review was that ADHD treatment rates decline sharply from childhood through young adulthood, despite the fact that functional impairment often persists. Moreover, although psychosocial therapy can play an important role in resolving functional difficulties and encouraging patient adherence to pharmacotherapy, the existing literature focuses mainly on pharmacotherapy as first-line treatment for ADHD. Therefore, careful, advanced planning to ensure continuity of medical and psychiatric care is essential. This planning involves the pediatric service that has been providing care, the adult service that will assume the responsibility of providing care, the young person with ADHD, and the family. Although recommendations for planning initiatives have been developed by a variety of professional organizations, they do not seem to be routinely implemented for the transition of ADHD care. Such careful advanced transition planning can ensure continuity of treatment, encourage treatment adherence, and help young individuals

  9. Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders

    PubMed Central

    Castelo-Branco, Miguel; Mendes, Mafalda; Sebastião, Ana Raquel; Reis, Aldina; Soares, Mário; Saraiva, Jorge; Bernardes, Rui; Flores, Raquel; Pérez-Jurado, Luis; Silva, Eduardo

    2007-01-01

    Williams-Beuren syndrome (WBS), a neurodevelopmental genetic disorder whose manifestations include visuospatial impairment, provides a unique model to link genetically determined loss of neural cell populations at different levels of the nervous system with neural circuits and visual behavior. Given that several of the genes deleted in WBS are also involved in eye development and the differentiation of retinal layers, we examined the retinal phenotype in WBS patients and its functional relation to global motion perception. We discovered a low-level visual phenotype characterized by decreased retinal thickness, abnormal optic disk concavity, and impaired visual responses in WBS patients compared with age-matched controls by using electrophysiology, confocal and coherence in vivo imaging with cellular resolution, and psychophysics. These mechanisms of impairment are related to the magnocellular pathway, which is involved in the detection of temporal changes in the visual scene. Low-level magnocellular performance did not predict high-level deficits in the integration of motion and 3D information at higher levels, thereby demonstrating independent mechanisms of dysfunction in WBS that will require remediation strategies different from those used in other visuospatial disorders. These findings challenge neurodevelopmental theories that explain cortical deficits based on low-level magnocellular impairment, such as regarding dyslexia. PMID:18037993

  10. Transcranial magnetic stimulation in autism spectrum disorder: Challenges, promise, and roadmap for future research.

    PubMed

    Oberman, Lindsay M; Enticott, Peter G; Casanova, Manuel F; Rotenberg, Alexander; Pascual-Leone, Alvaro; McCracken, James T

    2016-02-01

    Autism Spectrum Disorder (ASD) is a behaviorally defined complex neurodevelopmental syndrome characterized by impairments in social communication, by the presence of restricted and repetitive behaviors, interests and activities, and by abnormalities in sensory reactivity. Transcranial magnetic stimulation (TMS) is a promising, emerging tool for the study and potential treatment of ASD. Recent studies suggest that TMS measures provide rapid and noninvasive pathophysiological ASD biomarkers. Furthermore, repetitive TMS (rTMS) may represent a novel treatment strategy for reducing some of the core and associated ASD symptoms. However, the available literature on the TMS use in ASD is preliminary, composed of studies with methodological limitations. Thus, off-label clinical rTMS use for therapeutic interventions in ASD without an investigational device exemption and outside of an IRB approved research trial is premature pending further, adequately powered and controlled trials. Leaders in this field have gathered annually for a two-day conference (prior to the 2014 and 2015 International Meeting for Autism Research, IMFAR) to share recent progress, promote collaboration across laboratories, and establish consensus on protocols. Here we review the literature in the use of TMS in ASD in the context of the unique challenges required for the study and exploration of treatment strategies in this population. We also suggest future directions for this field of investigations. While its true potential in ASD has yet to be delineated, TMS represents an innovative research tool and a novel, possibly transformative approach to the treatment of neurodevelopmental disorders. PMID:26536383

  11. Reliability, Validity, and Classification Accuracy of the DSM-5 Diagnostic Criteria for Gambling Disorder and Comparison to DSM-IV.

    PubMed

    Stinchfield, Randy; McCready, John; Turner, Nigel E; Jimenez-Murcia, Susana; Petry, Nancy M; Grant, Jon; Welte, John; Chapman, Heather; Winters, Ken C

    2016-09-01

    The DSM-5 was published in 2013 and it included two substantive revisions for gambling disorder (GD). These changes are the reduction in the threshold from five to four criteria and elimination of the illegal activities criterion. The purpose of this study was to twofold. First, to assess the reliability, validity and classification accuracy of the DSM-5 diagnostic criteria for GD. Second, to compare the DSM-5-DSM-IV on reliability, validity, and classification accuracy, including an examination of the effect of the elimination of the illegal acts criterion on diagnostic accuracy. To compare DSM-5 and DSM-IV, eight datasets from three different countries (Canada, USA, and Spain; total N = 3247) were used. All datasets were based on similar research methods. Participants were recruited from outpatient gambling treatment services to represent the group with a GD and from the community to represent the group without a GD. All participants were administered a standardized measure of diagnostic criteria. The DSM-5 yielded satisfactory reliability, validity and classification accuracy. In comparing the DSM-5 to the DSM-IV, most comparisons of reliability, validity and classification accuracy showed more similarities than differences. There was evidence of modest improvements in classification accuracy for DSM-5 over DSM-IV, particularly in reduction of false negative errors. This reduction in false negative errors was largely a function of lowering the cut score from five to four and this revision is an improvement over DSM-IV. From a statistical standpoint, eliminating the illegal acts criterion did not make a significant impact on diagnostic accuracy. From a clinical standpoint, illegal acts can still be addressed in the context of the DSM-5 criterion of lying to others. PMID:26408026

  12. Differential diagnosis of heavily pigmented melanocytic lesions: challenges and diagnostic approach.

    PubMed

    Aung, Phyu P; Mutyambizi, Kudakwashe K; Danialan, Richard; Ivan, Doina; Prieto, Victor G

    2015-12-01

    The differential diagnosis of heavily pigmented melanocytic neoplasms includes melanoma (especially animal type), melanosis of partially or completely regressed melanoma, blue naevus (BN), pigmented Spitzoid lesions, recurrent naevus, combined naevus, pigmented spindle cell naevus, epithelioid blue naevus of the Carney complex/pigmented epithelioid melanocytoma, deep penetrating naevus, hyperpigmented scar after surgery of melanoma in which there are also melanophages and hyperpigmentation due to the minocycline, a tattoo or a hyperpigmented scar. Pathologists face challenges when evaluating a pigmented lesion, especially in a small superficial biopsy, because it is difficult to access important histopathological features to differentiate benign versus malignant melanocytic lesions. The histological features that favour a diagnosis of melanoma include dimension (>6 mm), asymmetry, poor circumscription, irregular confluent nests, confluent lentiginous junctional melanocytic proliferation, lack of maturation with descent in the dermis, suprabasal pagetoid melanocytes, asymmetrical distribution of melanin pigment, cytological atypia, dermal mitotic figures, asymmetrical dermal lymphocytic infiltrate and necrosis. PMID:26602414

  13. The diagnostic and therapeutic challenge of nonepileptic seizures: An interdisciplinary approach

    PubMed Central

    Rayport, Shirley Ferguson; Schell, Carolyn A.

    2014-01-01

    Nonepileptic seizures were recognized in antiquity, but their diagnosis continues to be challenging in the present day. The diagnosis of seizures as nonepileptic has been based on associated physical conditions, social factors, laboratory findings, or psychological test findings. Pitfalls remain in the use of electroencephalography. We present several case studies of representative etiologies that demonstrate the value and the need for an interdisciplinary approach focusing on the individual, in the present, in all current dimensions, with careful consideration of seizure phenomena, physical explanations for symptoms, and psychodynamic profile in order to make the diagnosis and formulate successful treatment. This interdisciplinary approach provides a more comprehensive understanding of nonepileptic seizures and, more often, leads to successful outcome. PMID:25667871

  14. Diagnostic and therapeutic challenges of primary autoimmune haemolytic anaemia in children.

    PubMed

    Vagace, José Manuel; Bajo, Roberto; Gervasini, Guillermo

    2014-07-01

    Autoimmune haemolytic anaemias (AIHAs) are extracorpuscular haemolytic anaemias produced by antierythrocyte autoantibodies which cause a shortened red blood cell life span. There are several reasons why the diagnosis and treatment of AIHAs in children represent a bigger challenge than in adult patients, including the presence of particular AIHA types, the uncertainty of serological tests and the limited clinical experience. All these facts have added up to a poor understanding and management of some topics in childhood AIHA. We discuss some of these questions, for example, the occurrence of AIHA with negative direct antiglobulin (Coombs) test, the correct diagnosis and actual incidence of paroxysmal cold haemoglobinuria, the most appropriate second-line therapy of AIHA in childhood or the management of transfusion procedures in these patients. This review takes a practical point of view, providing with some ground rules on how to identify and deal with these paediatric patients. PMID:24599068

  15. RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders

    PubMed Central

    Wojciechowska, Marzena; Olejniczak, Marta; Galka-Marciniak, Paulina; Jazurek, Magdalena; Krzyzosiak, Wlodzimierz J.

    2014-01-01

    Repeat-associated disorders caused by expansions of short sequences have been classified as coding and noncoding and are thought to be caused by protein gain-of-function and RNA gain-of-function mechanisms, respectively. The boundary between such classifications has recently been blurred by the discovery of repeat-associated non-AUG (RAN) translation reported in spinocerebellar ataxia type 8, myotonic dystrophy type 1, fragile X tremor/ataxia syndrome and C9ORF72 amyotrophic lateral sclerosis and frontotemporal dementia. This noncanonical translation requires no AUG start codon and can initiate in multiple frames of CAG, CGG and GGGGCC repeats of the sense and antisense strands of disease-relevant transcripts. RNA structures formed by the repeats have been suggested as possible triggers; however, the precise mechanism of the translation initiation remains elusive. Templates containing expansions of microsatellites have also been shown to challenge translation elongation, as frameshifting has been recognized across CAG repeats in spinocerebellar ataxia type 3 and Huntington's disease. Determining the critical requirements for RAN translation and frameshifting is essential to decipher the mechanisms that govern these processes. The contribution of unusual translation products to pathogenesis needs to be better understood. In this review, we present current knowledge regarding RAN translation and frameshifting and discuss the proposed mechanisms of translational challenges imposed by simple repeat expansions. PMID:25217582

  16. Challenges of managing patients with inherited metabolic disorders in a developing country.

    PubMed

    Acosta, Phyllis B; Sabo, Robin

    2003-01-01

    The main problems encountered in managing patients with inherited metabolic disorders (IMDs) are inadequate numbers of clinicians and scientists with experience in IMDs, ill-equipped laboratory facilities, lack of funding, and lack of a well-organized plan. Other challenges that must be faced in developing countries include basic health care, birthing centers, and funding. The community environment including a clean water supply and appropriate waste disposal may also be problems. A stable communication system is necessary, as well as the means of paying for these systems. Analyses of local foods, at least for protein and energy, are required to utilize local materials in the diet. The home environment must also be considered. Adequate housing, clothing, and fuel are essential to help prevent frequent infections that may lead to serious illness or death of patients with IMDs. Adequate parental education is necessary along with adequate finances to purchase equipment to measure a prescribed diet and any necessary foods. Specialized medical, public health, community and home environments all contribute challenges of managing patients with IMDs in developing countries. PMID:15906736

  17. 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. PMID:26347286

  18. Diagnostic Examination of Children with Voice Disorders: A Low-Cost Solution.

    ERIC Educational Resources Information Center

    Leeper, Linda H.

    1992-01-01

    Low-cost, privately supported voice clinics were developed to perform laryngeal examinations of public school children to identify those needing treatment for voice disorders. This paper describes the model used in implementing the program, the population seen at the clinics, and the logistics involved in clinic operation. (Author/JDD)

  19. Short-Term Memory and Auditory Processing Disorders: Concurrent Validity and Clinical Diagnostic Markers

    ERIC Educational Resources Information Center

    Maerlender, Arthur

    2010-01-01

    Auditory processing disorders (APDs) are of interest to educators and clinicians, as they impact school functioning. Little work has been completed to demonstrate how children with APDs perform on clinical tests. In a series of studies, standard clinical (psychometric) tests from the Wechsler Intelligence Scale for Children, Fourth Edition…

  20. Diagnostic Assessment of Asperger's Disorder: A Review of Five Third-Party Rating Scales

    ERIC Educational Resources Information Center

    Campbell, Jonathan M.

    2005-01-01

    Five rating scales for screening and detection of Asperger's Disorder, three commercially available and two research instruments, are evaluated with reference to psychometric criteria outlined by Bracken in 1987 ("Journal of Psychoeducational Assessment," 4, 313). Reliability and validity data reported in examiner's manuals or published reports…