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https://www.readbyqxmd.com/read/28527289/-characterization-of-patients-with-skeletal-genetic-diseases-in-a-colombian-referral-center
#1
Harvy Mauricio Velasco, Lina Patricia Buelvas
INTRODUCTION: Short height in Colombia has an estimated prevalence of 10%. The 2009 Nosology and Classification of Skeletal Genetic Diseases described 456 clinical conditions using biochemical, molecular and radiological criteria for diagnosis. OBJECTIVE: To analyze demographic, epidemiological and clinical variables in a group of patients with skeletal genetic diseases referred to the Instituto de Ortopedia Infantil Roosevelt. MATERIALS AND METHODS: Patients referred between 2008 and 2014 were analyzed filtering 167 diagnoses of the International Classification of Diseases, 10th revision (ICD 10), related to skeletal genetic diseases...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28524099/metabolomics-of-therapy-response-in-preclinical-glioblastoma-a-multi-slice-mrsi-based-volumetric-analysis-for-noninvasive-assessment-of-temozolomide-treatment
#2
Nuria Arias-Ramos, Laura Ferrer-Font, Silvia Lope-Piedrafita, Victor Mocioiu, Margarida Julià-Sapé, Martí Pumarola, Carles Arús, Ana Paula Candiota
Glioblastoma (GBM) is the most common aggressive primary brain tumor in adults, with a short survival time even after aggressive therapy. Non-invasive surrogate biomarkers of therapy response may be relevant for improving patient survival. Previous work produced such biomarkers in preclinical GBM using semi-supervised source extraction and single-slice Magnetic Resonance Spectroscopic Imaging (MRSI). Nevertheless, GBMs are heterogeneous and single-slice studies could prevent obtaining relevant information. The purpose of this work was to evaluate whether a multi-slice MRSI approach, acquiring consecutive grids across the tumor, is feasible for preclinical models and may produce additional insight into therapy response...
May 18, 2017: Metabolites
https://www.readbyqxmd.com/read/28514359/-the-mathematical-approaches-to-differential-diagnostics-of-acute-pharyngeal-diseases
#3
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/28509418/review-article-sirenomelia-a-multi-systemic-polytopic-field-defect-with-ongoing-controversies
#4
REVIEW
Lucas L Boer, Eva Morava, Willemijn M Klein, Annelieke N Schepens-Franke, Roelof Jan Oostra
The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-rotated, axially positioned, single lower limb. Associated gastrointestinal and genitourinary anomalies are almost always present. This rare anomaly is still the subject of ongoing controversies concerning its nosology, pathogenesis, and possible genetic etiology. Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis...
May 16, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28499701/should-we-stop-saying-glia-and-neuroinflammation
#5
REVIEW
Roser Masgrau, Carmen Guaza, Richard M Ransohoff, Elena Galea
Central nervous system (CNS) therapeutics based on the theoretical framework of neuroinflammation have only barely succeeded. We argue that a problem may be the wrong use of the term 'neuroinflammation' as a distinct nosological entity when, based on recent evidence, it may not explain CNS disease pathology. Indeed, the terms 'neuroinflammation' and 'glia' could be obsolete. First, unbiased molecular profiling of CNS cell populations and individual cells reveals striking phenotypic heterogeneity in health and disease...
May 9, 2017: Trends in Molecular Medicine
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
#6
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/28491192/a-case-report-of-spinal-dural-arteriovenous-fistula-origins-determinants-and-consequences-of-abnormal-vascular-malformations
#7
Sherry M Zakhary, Christopher L Hoehmann, Joshua A Cuoco, Kyle Hitscherich, Hamid Alam, German Torres
A spinal dural arteriovenous fistula is an abnormally layered connection between radicular arteries and venous plexus of the spinal cord. This vascular condition is relatively rare with an incidence of 5-10 cases per million in the general population. Diagnosis of spinal dural arteriovenous fistula is differentiated by contrast-enhanced magnetic resonance angiography or structural magnetic resonance imaging, but a definitive diagnosis requires spinal angiography methods. Here, we report a case of a 67-year-old female with a spinal dural arteriovenous fistula, provide a pertinent clinical history to the case nosology, and discuss the biology of adhesive proteins, chemotactic molecules, and transcription factors that modify the behavior of the vasculature to possibly cause sensorimotor deficits...
June 2017: Radiology case reports
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
#8
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/28482691/the-philosophy-of-nosology
#9
Peter Zachar, Kenneth S Kendler
Many scholars believe that psychiatric nosology is undergoing a crisis of confidence. Some of the issues up for debate hark back to the introduction of the natural history approach to classification in the seventeenth century. Natural histories map sameness and difference rather than speculate about causes. In contrast, the natural classification approach aspires to carve nature at the joints by demarcating classifications by causes. Natural classifications are more ideal scientifically, but speculation about causality has had a poor track record in psychiatric nosology...
May 8, 2017: Annual Review of Clinical Psychology
https://www.readbyqxmd.com/read/28476049/corneal-k-values-as-a-diagnostic-screening-tool-for-marfan-syndrome
#10
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
#11
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/28467994/making-the-case-for-power-abuse-disorder-as-a-nosologic-entity
#12
Gerald Zernig, Christoph Hiemke
The development of societies and cultures arguably is based on the ability of human primates to form hierarchies in which some individuals acquire and wield power, that is, control resources and influence and control the behavior of their conspecifics. In the following, we focus on the type of human primate power wielding that (a) harms and (b) produces excessive negative emotions in (1) the victim(s) of the power wielder and (2) the power wielder her/himself. If such a harmful behavior of the power wielder is not accompanied by an ethically justifiable benefit for the involved human primate groups, it can be considered "power abuse...
May 4, 2017: Pharmacology
https://www.readbyqxmd.com/read/28467769/fear-of-vaginal-penetration-in-the-absence-of-pain-as-a-separate-category-of-female-sexual-dysfunction-a-conceptual-overview
#13
David Rabinowitz, Lior Lowenstein, Ilan Gruenwald
Functional sexual pain disorders in women are a particular challenge to the gynecologist, inasmuch as phobic avoidance and guarding on the part of the patient lead to difficulties in the gynecological examination and diagnosis. In some such cases examination may even be impossible. Vaginismus is the commonly diagnosed etiology of such cases. This article offers an overview of vaginismus and approaches to its treatment but also examines a subset of penetration-avoidant patients who do not appear to have a pain component...
April 28, 2017: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/28451478/t-cell-histiocyte-rich-large-b-cell-lymphoma-presented-as-t-lymphoid-hyperplasia-involving-the-central-nervous-system
#14
Mayumi Kubota, Makoto Taniguchi, Shinsuke Tobisawa, Yasuhiro Nakata, Muneo Nakaya, Hiroyuki Tamogami, Manabu Matsunawa, Takashi Komori
We herein report a case of T-cell/histiocyte-rich large B-cell lymphoma which initially presented as a self-limiting T-lymphoproliferative disorder involving multiple extranodal and extrapulmonary organs, such as the salivary gland, the liver, and the central nervous system. Repeated biopsies only revealed polyclonal T-lymphocytosis without the presence of atypical B-cells. Angiocentric cellular infiltration was absent, thus ruling out lymphomatoid granulomatosis. A recurrence in the lymphatic system finally revealed a small population of pathognomonic atypical B-cells, which led to the diagnosis...
March 26, 2017: Curēus
https://www.readbyqxmd.com/read/28449880/benign-focal-amyotrophy
#15
REVIEW
P Cintas
Within lower motor neuron diseases, benign focal amyotrophy is a rare syndrome characterized by insidious neurogenic asymmetric atrophy restricted to upper or lower limbs with a good prognosis over time. Described under several terms, the nosology is probably heterogeneous. In juvenile distal upper-limbs forms, specific MRI signs with in particular a compression of the spinal cord by forward displacement of dura, lead to evoke a mechanical process. In other forms, occurring later in the life, affecting proximal part of upper limbs or lower limbs, the physiopathology is still unknown and a focal spinal muscular atrophy is suspected...
April 24, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28445538/gene-expression-patterns-associated-with-neurological-disease-in-human-hiv-infection
#16
Pietro Paolo Sanna, Vez Repunte-Canonigo, Eliezer Masliah, Celine Lefebvre
The pathogenesis and nosology of HIV-associated neurological disease (HAND) remain incompletely understood. Here, to provide new insight into the molecular events leading to neurocognitive impairments (NCI) in HIV infection, we analyzed pathway dysregulations in gene expression profiles of HIV-infected patients with or without NCI and HIV encephalitis (HIVE) and control subjects. The Gene Set Enrichment Analysis (GSEA) algorithm was used for pathway analyses in conjunction with the Molecular Signatures Database collection of canonical pathways (MSigDb)...
2017: PloS One
https://www.readbyqxmd.com/read/28444578/experimental-psychosis-research-and-schizophrenia-similarities-and-dissimilarities-in-psychopathology
#17
Leo Hermle, Rainer Kraehenmann
The aim of experimental psychopathology is to delineate overlapping functional disorders of psychoneurobiologically-defined systems where a set of common symptoms may correspond to a variety of nosological entities. According to the vulnerability model of psychosis, experimental research needs to go beyond categories such as "schizophrenia". Prospective studies of the effects of psychoactive substances in normal control subjects offer several methodological advantages over routine clinical reviews of schizophrenic patients, especially in terms of standardization...
April 26, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28433949/the-dimensional-structure-of-psychopathology-in-22q11-2-deletion-syndrome
#18
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/28427232/embryonic-signature-distinguishes-pediatric-and-adult-rhabdoid-tumors-from-other-smarcb1-deficient-cancers
#19
Wilfrid Richer, Julien Masliah-Planchon, Nathalie Clement, Irene Jimenez, Laetitia Maillot, David Gentien, Benoît Albaud, Walid Chemlali, Christine Galant, Frederique Larousserie, Pascaline Boudou-Rouquette, Amaury Leruste, Celine Chauvin, Zhi Yan Han, Jean-Michel Coindre, Pascale Varlet, Paul Freneaux, Dominique Ranchère-Vince, Olivier Delattre, Franck Bourdeaut
Extra-cranial rhabdoid tumors (RT) are highly aggressive malignancies of infancy, characterized by undifferentiated histological features and loss of SMARCB1 expression. The diagnosis is all the more challenging that other poorly differentiated cancers lose SMARCB1 expression, such as epithelioid sarcomas (ES), renal medullary carcinomas (RMC) or undifferentiated chordomas (UC). Moreover, late cases occurring in adults are now increasingly reported, raising the question of differential diagnoses and emphasizing nosological issues...
May 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28425076/monoclonal-gammopathy-of-renal-significance-mgrs-the-characteristics-and-significance-of-a-new-meta-entity
#20
REVIEW
Mariana Ciocchini, Jorge Arbelbide, Carlos G Musso
Monoclonal gammopathy of renal significance (MGRS) is a new nosological group of entities (meta-entity) defined in 2012, whose pathogenesis depends on monoclonal immunoglobulins (Ig) secreted by low-grade lymphoproliferative disorders, which belong to M-protein-related diseases. Renal damage is the result of monoclonal Ig deposit or its activity as autoantibodies, which can compromise any nephronal area. MGRS does not include kidney diseases produced by high-grade lymphoproliferative disorders as well as those whose pathogenesis are independent of monoclonal Ig (such as drug toxicity or metabolic disorders)...
April 19, 2017: International Urology and Nephrology
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