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https://www.readbyqxmd.com/read/29325609/the-cag-polyglutamine-repeat-diseases-a-clinical-molecular-genetic-and-pathophysiologic-nosology
#1
Colleen A Stoyas, Albert R La Spada
Throughout the genome, unstable tandem nucleotide repeats can expand to cause a variety of neurologic disorders. Expansion of a CAG triplet repeat within a coding exon gives rise to an elongated polyglutamine (polyQ) tract in the resultant protein product, and accounts for a unique category of neurodegenerative disorders, known as the CAG-polyglutamine repeat diseases. The nine members of the CAG-polyglutamine disease family include spinal and bulbar muscular atrophy (SBMA), Huntington disease, dentatorubral pallidoluysian atrophy, and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29317742/psychiatric-genetics-and-the-structure-of-psychopathology
#2
REVIEW
Jordan W Smoller, Ole A Andreassen, Howard J Edenberg, Stephen V Faraone, Stephen J Glatt, Kenneth S Kendler
For over a century, psychiatric disorders have been defined by expert opinion and clinical observation. The modern DSM has relied on a consensus of experts to define categorical syndromes based on clusters of symptoms and signs, and, to some extent, external validators, such as longitudinal course and response to treatment. In the absence of an established etiology, psychiatry has struggled to validate these descriptive syndromes, and to define the boundaries between disorders and between normal and pathologic variation...
January 9, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29310419/proliferative-lupus-nephritis-in-the-absence-of-overt-systemic-lupus-erythematosus-a-historical-study-of-12-adult-patients
#3
Maxime Touzot, Cécile Saint-Pastou Terrier, Stanislas Faguer, Ingrid Masson, Hélène François, Lionel Couzi, Aurélie Hummel, Nathalie Quellard, Guy Touchard, Noémie Jourde-Chiche, Jean-Michel Goujon, Eric Daugas
Severe lupus nephritis in the absence of systemic lupus erythematosus (SLE) is a rare condition with an unclear clinical presentation and outcome.We conducted a historical observational study of 12 adult (age >18 years) patients with biopsy-proven severe lupus nephritis or lupus-like nephritis without SLE immunological markers at diagnosis or during follow-up. Excluded were patients with chronic infections with HIV or hepatitis B or C; patients with a bacterial infectious disease; and patients with pure membranous nephropathy...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29309923/dermal-fibroblast-to-myofibroblast-transition-sustained-by-%C3%AE-v%C3%A3-3-integrin-ilk-snail1-slug-signaling-is-a-common-feature-for-hypermobile-ehlers-danlos-syndrome-and-hypermobility-spectrum-disorders
#4
Nicoletta Zoppi, Nicola Chiarelli, Silvia Binetti, Marco Ritelli, Marina Colombi
Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder with unknown molecular basis mainly characterized by generalized joint hypermobility, joint instability complications and minor skin changes. The phenotypic spectrum is broad and includes multiple associated symptoms shared with chronic inflammatory systemic diseases. The stricter criteria defined in the 2017 EDS nosology leave without an identity many individuals with symptomatic joint hypermobility and/or features of hEDS; for these patients, the term Hypermobility Spectrum Disorders (HSD) was introduced...
January 5, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29304167/the-language-disorder-of-prion-disease-is-characteristic-of-a-dynamic-aphasia-and-is-rarely-an-isolated-clinical-feature
#5
Diana Caine, Akin Nihat, Philippa Crabb, Peter Rudge, Lisa Cipolotti, John Collinge, Simon Mead
BACKGROUND: Akinetic mutism is a key diagnostic feature of prion diseases, however, their rapidly progressive nature makes detailed investigation of the language disorder in a large cohort extremely challenging. This study aims to position prion diseases in the nosology of language disorders and improve early clinical recognition. METHODS: A systematic, prospective investigation of language disorders in a large cohort of patients diagnosed with prion diseases. 568 patients were included as a sub-study of the National Prion Monitoring Cohort...
2018: PloS One
https://www.readbyqxmd.com/read/29286520/serum-content-of-total-adipionectin-in-the-chnpp-accident-clean-up-workers-of-the-%C3%A2-iodine-period%C3%A2-suffering-from-type-2-diabetes-mellitus-literature-review-and-research-data
#6
N S Dombrovska, O Ya Pleskach
OBJECTIVE: assay of the total adiponectin level in the ChNPP accident clean up workers (ACUW) of the «iodine peri od» exposed to ionizing radiation in a young age and suffering now from type 2 diabetes mellitusMaterials and methods. The Chernobyl Nuclear Power Plant accident clean up workers (ACUW) of the iodine period (n=111) exposed to ionizing radiation at a young age (18-35 years) were examined in two groups: Group I (main study group, n=66) of persons with type 2 diabetes mellitus (DM) and Group II (comparison group, n=45) of persons with normal glucose challenge test results...
December 2017: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/29282590/culture-and-context-in-mental-health-diagnosing-scrutinizing-the-dsm-5-revision
#7
Anna Bredström
This article examines the revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) and its claim of incorporating a "greater cultural sensitivity." The analysis reveals that the manual conveys mixed messages as it explicitly addresses the critique of being ethnocentric and having a static notion of culture yet continues in a similar fashion when culture is applied in diagnostic criteria. The analysis also relates to current trends in psychiatric nosology that emphasize neurobiology and decontextualize distress and points to how the DSM-5 risks serving as an ethnic dividing line in psychiatry by making sociocultural context relevant only for some patients...
December 28, 2017: Journal of Medical Humanities
https://www.readbyqxmd.com/read/29275445/issues-on-the-diagnosis-and-etiopathogenesis-of-mood-disorders-reconsidering-dsm-5
#8
REVIEW
Kazuyoshi Ogasawara, Yukako Nakamura, Hiroyuki Kimura, Branko Aleksic, Norio Ozaki
The authors present a narrative review from the diagnostic and nosologic viewpoints of mood disorders (bipolar and depressive ones) by revisiting the revision from the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders, Text Revision to DSM-5, including the following: the separation of the bipolar and depressive sections; the addition of increased energy and continuation of symptoms to the hypo/manic criteria; the elimination of mixed episodes; the creation of new categories and specifiers ("other specified bipolar and related disorder", "disruptive mood dysregulation disorder", "with anxious distress", "with mixed features", "with peripartum onset"); the categorization of hypo/manic episodes during antidepressant treatment into bipolar disorder; the elimination of the "bereavement exclusion"; the ambiguous separation between bipolar I and II; the insufficient distinction between "other specified bipolar and related disorders" and major depressive disorder; the differentiation regarding borderline personality disorder; agitation; premenstrual dysphoric disorder; and society and psychiatry...
December 23, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29260748/-necrotizing-sarcoid-granulomatosis-with-clinical-presentations-of-recurrent-acute-abdomen-case-report-and-literature-review
#9
V I Vasilyev, S G Palshina, B D Chaltsev, S G Radenska-Lopovok, T N Safonova
The authors have described the world's first case of necrotizing sarcoid granulomatosis (NSG) in a 22-year-old woman with the clinical presentations of acute abdomen, which are associated with abdominal lymph nodal infiltration and necrosis, obvious constitutional disturbances (fever, nocturnal sweats, and significant weight loss), high inflammatory activity (anemia, leukocytosis, high erythrocyte sedimentation rates and C-reactive protein levels), the gradual appearance of splenic and hepatic necrotic foci, and infiltration into the lung and lacrimal glands with the development of unilateral uveitis...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/29249217/palatal-tremor-revisited-disorder-with-nosological-diversity-and-etiological-heterogeneity
#10
Madhu Nagappa, Parayil S Bindu, Sanjib Sinha, Rose D Bharath, Mangalore Sandhya, Jitender Saini, Pavagada S Mathuranath, Arun B Taly
This case series aimed to describe clinicoradiological, electromyographic, and etiological spectra in palatal tremor (essential=1; symptomatic=26). Patients with symptomatic palatal tremor had 2 to 10 Hz arrhythmic electromyographic bursts, a spectrum of changes in inferior olivary nucleus, with/without lesions in Guillain Mollaret triangle, and varied etiologies (genetic=9, vascular=6, trauma=3, infections=3). Exome sequencing showed variations in POLG, WDR81, NDUFS8, TENM4, and EEF2. Clinical phenotypes of patients with POLG, WDR81, and NDUFS8 variations were consistent with that described in literature...
December 18, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29248900/karl-jaspers-the-icon-of-modern-psychiatry
#11
Michael A Schwartz, Marcin Moskalewicz, Osborne P Wiggins
December 2015 and March 2016 issues of the American Journal of Psychiatry contain a debate focusing on the legacy of Emil Kraepelin, widely considered one of the founders if not the iconic founder of modern scientific psychiatry. The authors, Eric J. Engstrom and Kenneth S. Kendler, challenge the so-called neo-Kraepelinian view of Kraepelin and argue that the true, historical Kraepelin was far more inclined towards scientific psychology, less reductionist and brain-centric, and more skeptical nosologically than his later followers apparently believe...
2017: Israel Journal of Psychiatry and related Sciences
https://www.readbyqxmd.com/read/29246661/a-quantitative-approach-to-neuropsychiatry-the-why-and-the-how
#12
REVIEW
Martien J Kas, Brenda Penninx, Bernd Sommer, Alessandro Serretti, Celso Arango, Hugh Marston
The current nosology of neuropsychiatric disorders allows for a pragmatic approach to treatment choice, regulation and clinical research. However, without a biological rationale for these disorders, drug development has stagnated. The recently EU-funded PRISM project aims to develop a quantitative biological approach to the understanding and classification of neuropsychiatric diseases to accelerate the discovery and development of better treatments. By combining clinical data sets from major worldwide disease cohorts and by applying innovative technologies to deeply phenotype stratified patient groups, we will define a set of quantifiable biological parameters for social withdrawal and cognitive deficits common to Schizophrenia (SZ), Major Depression (MD), and Alzheimer's Disease (AD)...
December 12, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29241358/criticisms-of-kraepelin-s-psychiatric-nosology-1896-1927
#13
Kenneth S Kendler, Eric J Engstrom
Emil Kraepelin's psychiatric nosology, proposed in the 5th and 6th editions of his textbook published in 1896 and 1899, did not quickly gain worldwide acceptance, but was instead met with substantial and sustained criticism. The authors review critiques of Kraepelin's work published in his lifetime by Adolf Meyer, Friedrich Jolly, Eugenio Tanzi, Alfred Hoche, Karl Jaspers, and Willy Hellpach. These critics made six major points. First, Kraepelin's new categories of dementia praecox and manic-depressive insanity were too broad and too heterogeneous...
December 15, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/29240055/-endovascular-treatment-of-acute-mesenteric-ischaemia-in-thrombosis-of-superior-mesenteric-artery
#14
A A Shchegolev, S A Papoian, A E Mitichkin, D G Gromov, A G Ishevskiĭ, A Iu Chevokin, M M Mutaev
The article deals with the problems related to acute impairment of mesenteric blood circulation, known as a nosological entity associated with an extremely high mortality rate. The authors point out that there are currently no common approaches to appropriate management of the pathology concerned and define the role of modern minimally invasive methods, which roentgenosurgical interventions belong to, making it possible to rapidly, safely and efficiently cope with the problem of thrombosis of mesenteric vessels, as well as to decrease lethality and improve the prognosis in this cohort of patients...
2017: Angiologii︠a︡ i Sosudistai︠a︡ Khirurgii︠a︡, Angiology and Vascular Surgery
https://www.readbyqxmd.com/read/29239218/the-influence-of-aripiprazole-and-venlafaxine-on-the-antidepressant-like-effect-observed-in-prenatally-stressed-rats-animal-model-of-depression
#15
P Ratajczak, K Kus, M Skurzyńska, E Nowakowska
Depression is a nosological entity which may appear alone or concomitantly (e.g. in schizophrenia). Analysis of data from both clinical and experimental studies allows a conclusion that atypical antipsychotics, such as aripiprazole (ARI), may also be effective in treating depression in addition to antidepressants. The aim of the studies was to determine antidepressant efficacy of ARI, venlafaxine (VEN) and combined therapy using both drugs, in prenatally stressed rats (animal depression model) and control group...
January 1, 2017: Human & Experimental Toxicology
https://www.readbyqxmd.com/read/29234519/-burnout-syndrome-from-nosological-indeterminacy-to-epidemiological-nonsense
#16
Renzo Bianchi, Irvin Sam Schonfeld, Eric Laurent
No abstract text is available yet for this article.
December 2017: BJPsych Bulletin
https://www.readbyqxmd.com/read/29222591/dementia-with-lewy-bodies-and-parkinson-s-disease-dementia-current-concepts-and-controversies
#17
REVIEW
Kurt A Jellinger
Dementia with Lewy bodies (DLB) and Parkinson's disease-dementia (PDD), although sharing many clinical, neurochemical and morphological features, according to DSM-5, are two entities of major neurocognitive disorders with Lewy bodies of unknown etiology. Despite considerable clinical overlap, their diagnosis is based on an arbitrary distinction between the time of onset of motor and cognitive symptoms: dementia often preceding parkinsonism in DLB and onset of cognitive impairment after onset of motor symptoms in PDD...
December 8, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29217826/parkinson-s-disease-the-story-of-an-eponym
#18
REVIEW
Michel Goedert, Alastair Compston
One of the most prevalent neurodegenerative diseases worldwide is still referred to as 'Parkinson's disease'. The condition is named after James Parkinson who, in 1817, described the shaking palsy (paralysis agitans). In the bicentennial year of this publication, we trace when and why the shaking palsy became Parkinson's disease. The term was coined by William Rutherford Sanders of Edinburgh in 1865 and later entered general usage through the influence of Jean-Martin Charcot and the school that he nurtured at the Salpêtrière Hospital in Paris...
December 8, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29203744/differences-in-clinical-manifestations-of-odontogenic-and-non-odontogenic-lymphadenitis
#19
Pavlo I Tkachenko, Viitalina O Dobroskok, Nataliia M Korotych, Inna A Kolisnyk
INTRODUCTION: The acute suppurative lymphadenitis and its chronic forms prevail in the structure of inflammatory processes of the maxillofacial area in children. High incidence of the acute and chronic forms of lymphadenitis of both odontogenic and nonodontogenic origin is caused by the anotomophysiological peculiarities of the structure of the teeth and soft tissues in children in different age periods. THE AIM: The paper was aimed at comparison of clinical manifestations of the acute and chronic odontogenic and non-odontogenic lymphadenitis...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29194964/personal-viewpoint-the-bridge-between-transplantation-and-regenerative-medicine-beginning-a-new-banff-classification-of-tissue-engineering-pathology
#20
K Solez, K C Fung, K A Saliba, V L C Sheldon, A Petrosyan, L Perin, J F Burdick, W H Fissell, A J Demetris, L D Cornell
The science of regenerative medicine is arguably older than transplantation - the first major textbook was published in 1901 - and a major regenerative medicine meeting took place in 1988, three years before the first Banff transplant pathology meeting. However, the subject of regenerative medicine/tissue engineering pathology has never received focused attention. Defining and classifying tissue engineering pathology is long overdue. In the next decades, the field of transplantation will enlarge at least tenfold, through a hybrid of tissue engineering combined with existing approaches to lessening the organ shortage...
December 1, 2017: American Journal of Transplantation
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