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Diagnostic nosology

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https://www.readbyqxmd.com/read/28514359/-the-mathematical-approaches-to-differential-diagnostics-of-acute-pharyngeal-diseases
#1
A P Yastremsky, A I Izvin
The objective of the present study was to elaborate the program for differential diagnostics of acute pharyngeal diseases based on the 'ENT-Neuro' artificial neuronal network. The study group was formed by means of sampling patients with acute pharyngeal diseases from a set of case histories of the subjects presenting with acute inflammatory diseases. The data thus obtained were employed to develop the expert system to support the decision making process with the use of the 'ENT-Neuro' artificial neuronal network that allows to carry out diagnostics of various inflammatory diseases of the pharynx including the following nosological entities: paratonsillitis, parapharyngitis, acute tonsillitis, and acute pharyngitis, with the minimal probability of erroneous diagnosis (4%)...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/28495012/what-do-clinicians-treat-diagnoses-or-symptoms-the-incremental-validity-of-a-symptom-based-dimensional-characterization-of-emotional-disorders-in-predicting-medication-prescription-patterns
#2
Monika A Waszczuk, Mark Zimmerman, Camilo Ruggero, Kaiqiao Li, Annmarie MacNamara, Anna Weinberg, Greg Hajcak, David Watson, Roman Kotov
BACKGROUND: Although practice guidelines are based on disorders specified in diagnostic manuals, such as the DSM, practitioners appear to follow symptoms when making treatment decisions. Psychiatric medication is generally prescribed in a transdiagnostic manner, further highlighting how symptoms, not diagnoses, often guide clinical practice. A quantitative approach to nosology promises to provide better guidance as it describes psychopathology dimensionally and its organization reflects patterns of covariation among symptoms...
April 18, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28485813/spectrum-of-mucocutaneous-ocular-and-facial-features-and-delineation-of-novel-presentations-in-62-classical-ehlers-danlos-syndrome-patients
#3
Marina Colombi, Chiara Dordoni, Marina Venturini, Claudia Ciaccio, Silvia Morlino, Nicola Chiarelli, Arianna Zanca, Piergiacomo Calzavara-Pinton, Nicoletta Zoppi, Marco Castori, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement that is defined by many criteria of the Villefranche nosology and the 2017 revision. However, the diagnostic flow-chart that prompts molecular testing is still based on experts' opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosae, face, and joint hypermobility. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age...
May 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28476049/corneal-k-values-as-a-diagnostic-screening-tool-for-marfan-syndrome
#4
Jan Luebke, Daniel Boehringer, Philipp Eberwein, Thomas Reinhard
PURPOSE: Marfan syndrome (MFS) is diagnosed based on Ghent nosology, including major and minor criteria such as increased axial length (AXL) and flattened corneal curvature (higher K-values) or myopia of more than -3 diopters (D) in its latest revision. Because corneal flattening may, in part, be caused by AXL increase, it may be helpful to consider K-values separately. We present statistical evaluation of using corneal K-values for identifying MFS. METHODS: A retrospective study of K-values of 74 right eyes of 74 patients with MFS, who were compared with an age- and AXL-matched group of 74 right eyes of 74 patients without MFS...
June 2017: Cornea
https://www.readbyqxmd.com/read/28471212/hierarchical-structure-of-emotional-disorders-from-individual-symptoms-to-the-spectrum
#5
Monika A Waszczuk, Roman Kotov, Camilo Ruggero, Wakiza Gamez, David Watson
Classification of emotional disorders faces challenges of within-disorder heterogeneity and between-disorder comorbidity. The current study addressed these issues by analyzing all emotional disorder symptoms to identify homogeneous dimensions that characterize this domain. These dimensions were, in turn, used to define coherent syndromes and higher order factors. All of the emotional disorder symptoms specified in diagnostic manuals were assessed by interview in 2 treatment-seeking samples (N = 426 and 305), alongside clinical diagnoses and functioning measures...
May 4, 2017: Journal of Abnormal Psychology
https://www.readbyqxmd.com/read/28433949/the-dimensional-structure-of-psychopathology-in-22q11-2-deletion-syndrome
#6
Maria Niarchou, Tyler M Moore, Sunny X Tang, Monica E Calkins, Donna M McDonald-McGuinn, Elaine H Zackai, Beverly S Emanuel, Ruben C Gur, Raquel E Gur
BACKGROUND: 22q11.2 Deletion Syndrome (22q11.2DS) is one of the strongest known genetic risk factors for developing schizophrenia. Individuals with 22q11.2DS have high rates of neurodevelopmental disorders in childhood, while in adulthood ∼25% develop schizophrenia. Similar to the general population, high rates of comorbidity are common in 22q11.2DS. Employing a dimensional approach where psychopathology is examined at the symptom-level as complementary to diagnostic categories in a population at such high genetic risk for schizophrenia can help gain a better understanding of how psychopathology is structured as well as its genetic underpinnings...
April 15, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28393826/-possibilities-of-ph-impedance-and-high-resolution-manometry-in-managing-patients-with-refractory-gastroesophageal-reflux-disease
#7
I V Maev, E V Barkalova, M A Ovsepyan, Yu A Kucheryavyi, D N Andreev
Gastroesophageal reflux disease (GERD) is a common condition that has a substantial impact on quality of life in patients and is a leading risk factor for esophageal adenocarcinoma. Now therapy with proton pump inhibitors (PPIs) is a basic method in the treatment of patients with GERD; however, one third of the patients do not respond to the therapy used. The causes of refractory GERD are a fairly large group of heterogeneous factors contributing to the inefficacy of PPIs in adequate dosage. Among these factors, there is low compliance by patients to the prescribed treatment regimen; nocturnal acid breakthrough; СУР2С19 gene polymorphism; chiasm syndrome with functional diseases of the gastrointestinal tract; non-acidic refluxes in a patient; thoracic esophageal motility disorders; the increased number and duration of transient lower esophageal sphincter relaxation periods; hiatus hernia; and misdiagnosis...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28384779/a-diagnostic-marker-to-discriminate-childhood-apraxia-of-speech-from-speech-delay-i-development-and-description-of-the-pause-marker
#8
Lawrence D Shriberg, Edythe A Strand, Marios Fourakis, Kathy J Jakielski, Sheryl D Hall, Heather B Karlsson, Heather L Mabie, Jane L McSweeny, Christie M Tilkens, David L Wilson
Purpose: The goal of this article (PM I) is to describe the rationale for and development of the Pause Marker (PM), a single-sign diagnostic marker proposed to discriminate early or persistent childhood apraxia of speech from speech delay. Method: The authors describe and prioritize 7 criteria with which to evaluate the research and clinical utility of a diagnostic marker for childhood apraxia of speech, including evaluation of the present proposal. An overview is given of the Speech Disorders Classification System, including extensions completed in the same approximately 3-year period in which the PM was developed...
April 5, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28343453/a-trans-diagnostic-perspective-on-obsessive-compulsive-disorder
#9
C M Gillan, N A Fineberg, T W Robbins
Progress in understanding the underlying neurobiology of obsessive-compulsive disorder (OCD) has stalled in part because of the considerable problem of heterogeneity within this diagnostic category, and homogeneity across other putatively discrete, diagnostic categories. As psychiatry begins to recognize the shortcomings of a purely symptom-based psychiatric nosology, new data-driven approaches have begun to be utilized with the goal of solving these problems: specifically, identifying trans-diagnostic aspects of clinical phenomenology based on their association with neurobiological processes...
March 27, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28333488/the-hierarchical-taxonomy-of-psychopathology-hitop-a-dimensional-alternative-to-traditional-nosologies
#10
Roman Kotov, Robert F Krueger, David Watson, Thomas M Achenbach, Robert R Althoff, R Michael Bagby, Timothy A Brown, William T Carpenter, Avshalom Caspi, Lee Anna Clark, Nicholas R Eaton, Miriam K Forbes, Kelsie T Forbush, David Goldberg, Deborah Hasin, Steven E Hyman, Masha Y Ivanova, Donald R Lynam, Kristian Markon, Joshua D Miller, Terrie E Moffitt, Leslie C Morey, Stephanie N Mullins-Sweatt, Johan Ormel, Christopher J Patrick, Darrel A Regier, Leslie Rescorla, Camilo J Ruggero, Douglas B Samuel, Martin Sellbom, Leonard J Simms, Andrew E Skodol, Tim Slade, Susan C South, Jennifer L Tackett, Irwin D Waldman, Monika A Waszczuk, Thomas A Widiger, Aidan G C Wright, Mark Zimmerman
The reliability and validity of traditional taxonomies are limited by arbitrary boundaries between psychopathology and normality, often unclear boundaries between disorders, frequent disorder co-occurrence, heterogeneity within disorders, and diagnostic instability. These taxonomies went beyond evidence available on the structure of psychopathology and were shaped by a variety of other considerations, which may explain the aforementioned shortcomings. The Hierarchical Taxonomy Of Psychopathology (HiTOP) model has emerged as a research effort to address these problems...
May 2017: Journal of Abnormal Psychology
https://www.readbyqxmd.com/read/28325146/hypersexuality-as-a-neuropsychiatric-disorder-the-neurobiology-and-treatment-options
#11
Hatta Sidi, Muna Asiff, Jaya Kumar, Srijit Das, Nurul Hazwani Hatta, Cesar Alfonso
Hypersexuality refers to abnormally increased or extreme involvement in any sexual activity. It is clinically challenging, presents trans-diagnostically and there is extensive medical literature addressing nosology, pathogenesis and neuropsychiatric aspects. Classification includes deviant behaviours, diagnosable entities related to impulsivity, and obsessional phenomena. Some clinicians view an increase in sexual desire as 'normal' while psychodynamic theorists consider it ego-defensive at times alleviating unconscious anxiety rooted in intrapsychic conflicts...
March 21, 2017: Current Drug Targets
https://www.readbyqxmd.com/read/28306227/the-international-consortium-on-the-ehlers-danlos-syndromes
#12
Lara Bloom, Peter Byers, Clair Francomano, Brad Tinkle, Fransiska Malfait
Since 1998, two developments have led to concerns that the EDS nosology needs to be substantially revised. The first development was the clinical and molecular characterization of several new EDS variants, which substantially broadened the molecular basis underlying EDS. The second was the growing concern, in the absence of genetic diagnosis, that the hypermobile type of EDS had an expanded phenotype, may be genetically heterogeneous, and that the diagnostic criteria currently in use were inadequate. Furthermore, there is a dire need for the development of guidelines for management for each type of EDS to allow both the specialist and the generalist to care for affected individuals and their families...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28301765/controversies-in-narcissism
#13
Joshua D Miller, Donald R Lynam, Courtland S Hyatt, W Keith Campbell
There has been a surge in interest in and research on narcissism and narcissistic personality disorder (NPD). Despite or because of this increased attention, there are several areas of substantial debate that surround the construct, including descriptions of grandiose and vulnerable dimensions or variants, questions regarding the existence of a consensual description, central versus peripheral features of narcissism, distinctions between normal and pathological narcissism, possible etiological factors, the role of self-esteem in narcissism, where narcissism should be studied, how it can be assessed, and its representation in diagnostic nosologies...
May 8, 2017: Annual Review of Clinical Psychology
https://www.readbyqxmd.com/read/28300946/kraepelin-s-views-on-obsessive-neurosis-a-comparison-with-dsm-5-criteria-for-obsessive-compulsive-disorder
#14
Holger Steinberg, Dirk Carius, Leonardo F Fontenelle
Emil Kraepelin (1856-1926) is considered one of the founders of modern psychiatric nosology. However, his conceptualization of obsessive-compulsive phenomena is relatively understudied. In this article, we compare and contrast excerpts from the eighth edition (1909-1915) of Kraepelin's Textbook of Clinical Psychiatry focusing on what Kraepelin called "obsessive neurosis" and related "original pathological conditions" with the current DSM-5 criteria for obsessive-compulsive disorder (OCD). Consistently with DSM-5 OCD, Kraepelin described obsessive neurosis as characterized by obsessive ideas, compulsive acts, or both together...
March 13, 2017: Revista Brasileira de Psiquiatria
https://www.readbyqxmd.com/read/28295484/who-2016-classification-changes-and-advancements-in-the-diagnosis-of-miscellaneous-primary-cns-tumours
#15
Felix Sahm, David E Reuss, Caterina Giannini
This short review highlights significant changes and recent findings incorporated to varying extent in the WHO 2016 definition of a variety of tumours, including peripheral nerve sheath tumours, meningiomas, mesenchymal non-meningothelial tumours, melanocytic tumours, lymphomas and histiocytic tumours, germ cell tumours and non-neuroendocrine pituitary tumours. Most notable classification changes include: adding "hybrid nerve sheath tumours" to the spectrum of benign nerve sheath tumours; an updated definition of atypical meningioma (WHO grade II), including cases with brain invasion; recognizing dural solitary fibrous tumour (SFT) and haemangiopericytoma (HPC) as a single tumour entity characterized by NAB2 and STAT6 gene fusions for which the term solitary SFT/HPC was chosen; recognizing that pituitary granular cell tumour, spindle cell oncocytoma, and pituicytoma all share nuclear expression of TTF-1, possibly representing a spectrum of a single nosological entity derived from posterior pituitary glial cells...
March 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28290817/-diagnosis-prognosis-monitoring-of-cardiac-complications-of-arterial-hypertension-hypertensive-heart-disease
#16
A E Manoilov
AIM: of the study was further investigation of diagnostics and management of cardiac complications of essential hypertension (EH). METHODS: Retrospective analysis of annual reports of cardiological departments for 10 year period was carried out. Internists (n=330) from 6 regions of Russia participated in the study. Anonymous questioning was used for the study of physicians views on diagnosis, prognostication of outcomes, and monitoring of hypertensive heart disease (HHD)...
December 2016: Kardiologiia
https://www.readbyqxmd.com/read/28289276/david-skae-and-his-nineteenth-century-etiologic-psychiatric-diagnostic-system-looking-forward-by-looking-back
#17
K S Kendler
The Kraepelinian syndromal approach to diagnosis taken by DSM-III and its successors, which defines disorders by their clinical phenomenon, has come under rising criticism with increasing calls for an etiologically based nosology. The relative virtues of a syndromal versus etiologic psychiatric nosology have actually been debated within our field for a long time. To deepen and historically contextualize our current discussion, I review in detail the proposal for etiologic diagnostic systems for insanity by David Skae (1814-1873)...
June 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28241891/characterizing-cognitive-heterogeneity-on-the-schizophrenia-bipolar-disorder-spectrum
#18
T E Van Rheenen, K E Lewandowski, E J Tan, L H Ospina, D Ongur, E Neill, C Gurvich, C Pantelis, A K Malhotra, S L Rossell, K E Burdick
BACKGROUND: Current group-average analysis suggests quantitative but not qualitative cognitive differences between schizophrenia (SZ) and bipolar disorder (BD). There is increasing recognition that cognitive within-group heterogeneity exists in both disorders, but it remains unclear as to whether between-group comparisons of performance in cognitive subgroups emerging from within each of these nosological categories uphold group-average findings. We addressed this by identifying cognitive subgroups in large samples of SZ and BD patients independently, and comparing their cognitive profiles...
February 28, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28208816/posttraumatic-stress-disorder-in-the-dsm-5-controversy-change-and-conceptual-considerations
#19
REVIEW
Anushka Pai, Alina M Suris, Carol S North
The criteria for posttraumatic stress disorder PTSD have changed considerably with the newest edition of the American Psychiatric Association's (APA) Diagnostic and Statistical Manual of Mental Disorders (DSM-5). Changes to the diagnostic criteria from the DSM-IV to DSM-5 include: the relocation of PTSD from the anxiety disorders category to a new diagnostic category named "Trauma and Stressor-related Disorders", the elimination of the subjective component to the definition of trauma, the explication and tightening of the definitions of trauma and exposure to it, the increase and rearrangement of the symptoms criteria, and changes in additional criteria and specifiers...
February 13, 2017: Behavioral Sciences
https://www.readbyqxmd.com/read/28207531/delayed-effort-induced-swelling-with-myofasciitis-and-systemic-manifestations-a-so-far-unrecognized-type-of-pressure-induced-urticaria
#20
Anne-Claire Bursztejn, Dan Lipsker
Diseases characterized by recurrent symptoms with prolonged intervals without any clinical manifestations can pose diagnostic difficulties. Some diagnoses will be obvious but other situations can be very challenging.To nosologically delineate a new entity characterized by recurrent flares of induration of the forearms and legs with swelling of the extremities accompanied by intense fatigue and variable other symptoms.Retrospective observational study of patients recorded from 2000 to 2015. All patients included were seen during a consultation at the Dermatology Department of the University Hospital of Strasbourg, France...
February 2017: Medicine (Baltimore)
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