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https://www.readbyqxmd.com/read/28433949/the-dimensional-structure-of-psychopathology-in-22q11-2-deletion-syndrome
#1
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
#2
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...
March 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28425076/monoclonal-gammopathy-of-renal-significance-mgrs-the-characteristics-and-significance-of-a-new-meta-entity
#3
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
https://www.readbyqxmd.com/read/28421980/guidelines-for-the-recognition-and-management-of-mixed-depression
#4
Stephen M Stahl, Debbi A Morrissette, Gianni Faedda, Maurizio Fava, Joseph F Goldberg, Paul E Keck, Yena Lee, Gin Malhi, Ciro Marangoni, Susan L McElroy, Michael Ostacher, Joshua D Rosenblat, Eva Solé, Trisha Suppes, Minoru Takeshima, Michael E Thase, Eduard Vieta, Allan Young, Mark Zimmerman, Roger S McIntyre
A significant minority of people presenting with a major depressive episode (MDE) experience co-occurring subsyndromal hypo/manic symptoms. As this presentation may have important prognostic and treatment implications, the DSM-5 codified a new nosological entity, the "mixed features specifier," referring to individuals meeting threshold criteria for an MDE and subthreshold symptoms of (hypo)mania or to individuals with syndromal mania and subthreshold depressive symptoms. The mixed features specifier adds to a growing list of monikers that have been put forward to describe phenotypes characterized by the admixture of depressive and hypomanic symptoms (e...
February 28, 2017: CNS Spectrums
https://www.readbyqxmd.com/read/28419269/dual-genotype-diffuse-low-grade-glioma-is-it-really-time-to-abandon-oligoastrocytoma-as-a-distinct-entity
#5
Valeria Barresi, Simona Lionti, Laura Valori, Giovanna Gallina, Maria Caffo, Sabrina Rossi
We report a unique case of dual-genotype oligoastrocytoma characterized by IDH2 gene mutation. The tumor was resected from the temporal lobe of a 25-year-old man. At histological examination with hematoxylin and eosin stain, it showed distinct oligodendroglial and astrocytic areas. The former retained alpha-thalassaemia/mental retardation X-linked (ATRX) immuno-expression and had absent staining for p53, while the latter had ATRX loss and p53 over-expression. Molecular analyses were separately assessed in the 2 tumor components...
April 17, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28416395/the-early-history-of-manganese-and-the-recognition-of-its-neurotoxicity-1837-1936
#6
Paul D Blanc
The history of the biomedical recognition manganese-caused neurotoxicity mirrors changing technologies as much as it does the ontology of parkinsonism. The initial 1837 report of manganese-induced neurologic injury was made by John Couper, a university-based physician in Scotland. He made clear that the outbreak occurred among workers at the Charles Tennant bleach manufactory in the environs of Glasgow. The relatively new technology of chlorine generation using manganese accounted for the novel exposure involved...
April 14, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28409750/clinical-characteristics-of-parkinson-s-disease-developed-from-essential-tremor
#7
Dong-Woo Ryu, Si-Hoon Lee, Yoon-Sang Oh, Jae-Young An, Jeong-Wook Park, In-Uk Song, Kwang-Soo Lee, Joong-Seok Kim
BACKGROUND: Recent genetic and epidemiological studies have shown that there is a link between essential tremor and Parkinson's disease (PD). However, there is a lack of data about the clinical features of PD developed from essential tremor. OBJECTIVE: To explore and describe the clinical characteristics of Parkinson's disease developed from essential tremor (ET-PD). METHODS: Twenty-five ET-PD patients and 124 IPD controls were enrolled according to each criterion...
April 13, 2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28405474/rheumatic-immune-related-adverse-events-of-checkpoint-therapy-for-cancer-case-series-of-a-new-nosological-entity
#8
C Calabrese, E Kirchner, K Kontzias, V Velcheti, L H Calabrese
Immunotherapy of cancer with checkpoint inhibitors has been associated with a spectrum of autoimmune and systemic inflammatory reactions known as immune-related adverse events (irAEs). Rheumatic irAEs are infrequently reported and extensively described. Here, we report our experience over an 18-month period with 15 patients evaluated in the rheumatology department for rheumatic irAEs. We identified 13 patients without pre-existing autoimmune disease (AID) who subsequently developed rheumatic irAEs, and two with established AID referred pre-emptively...
2017: RMD Open
https://www.readbyqxmd.com/read/28404667/distinct-clinical-characteristics-of-atypical-optic-neuritis-with-seronegative-aquaporin-4-antibody-among-chinese-patients
#9
Huanfen Zhou, Quangang Xu, Shuo Zhao, Wei Wang, Junqing Wang, Zhiye Chen, Dahe Lin, Xiaoming Li, Chunxia Peng, Nanping Ai, Shihui Wei
OBJECTIVE: To evaluate the clinical features and prognosis of atypical optic neuritis (ON) with seronegative aquaporin-4 (AQP4) antibody in Chinese patients. METHODS: All patients with first or relapsing ON were recruited from the Neuro-ophthalmology Department of the Chinese People's Liberation Army General Hospital from January 2013 to December 2014 and assigned to one of three groups based on diagnosis: atypical ON, typical ON and neuromyelitis optica spectrum disorder (NMOSD)-ON...
April 12, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28394177/delirium-clinical-motor-subtypes-a-narrative-review-of-the-literature-and-insights-from-neurobiology
#10
James M FitzGerald
INTRODUCTION: Clinical motor subtypes have been long recognised in delirium and, despite a growing body of research, a lack of clarity exists regarding the importance of these motor subtypes. The aims of this review are to (1) examine how the concept of motor subtypes has evolved, (2) explore their relationship to the clinical context, (3) discuss the relationship between the phenomenology of delirium and motor activity, (4) discuss the application of neurobiology to the theory of delirium motor subtypes, and (5) identify methodological issues and provide solutions for further studies...
April 10, 2017: Aging & Mental Health
https://www.readbyqxmd.com/read/28393994/-psychiatry-and-occupational-diseases-act-in-chile-historical-and-critical-review-of-a-complex-relationship
#11
Juan C Almonte, Cristián Mena, Sofía Ortiz, Juan P Osorio
The Work Accidents and Occupational Diseases Act exists in Chile since 1968. It uses a single model for the understanding and management of both somatic diseases like silicosis and psychiatric disorders. During the last decade in Chile, the consultation rates due to psychiatric conditions of probable labor origin has rose over 1,000%, a factor that underscored the deficiencies of this model. The aim of this paper is to analyze the consequences of the application of this act in the psychiatric field for almost 50 years after its promulgation...
December 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/28393826/-possibilities-of-ph-impedance-and-high-resolution-manometry-in-managing-patients-with-refractory-gastroesophageal-reflux-disease
#12
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
#13
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/28374925/clinical-spectrum-of-kabuki-like-syndrome-caused-by-hnrnpk-haploinsufficiency-case-report-and-literature-review
#14
Maria Lisa Dentici, Sabina Barresi, Marcello Niceta, Francesca Pantaleoni, Simone Pizzi, Bruno Dallapiccola, Marco Tartaglia, Maria Cristina Digilio
Kabuki syndrome is a genetically heterogeneous disorder characterized by postnatal growth retardation, skeletal abnormalities, intellectual disability, facial dysmorphisms and a variable range of organ malformations. In approximately 30% of affected individuals, the underlying genetic defect remains unknown. A small number of inactivating heterozygous HNRNPK mutations has recently been reported to be associated with a condition partially overlapping or suggestive of Kabuki syndrome. Here, we report on an 11 year-old girl with a complex phenotype in whom the diagnosis of KS was suggested but molecular testing for the known causative disease genes was negative...
April 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28370824/systematic-review-of-mammary-analog-secretory-carcinoma-of-salivary-glands-at-7-years-after-description
#15
REVIEW
Bacem A Khalele
BACKGROUND: Mammary analog secretory carcinoma of the salivary glands (MASCSG ) is a newly introduced malignant tumor of the salivary glands. For decades, it has been confused with acinic cell carcinoma (ACC) of the salivary glands. METHODS: All reported cases of MASCSG were surveyed from 2010 until January 2017. The collected data was compiled and computationally processed to describe the clinical parameters of MASCSG . Its epidemiology was also mapped. Moreover, inaccurate data was highlighted...
April 3, 2017: Head & Neck
https://www.readbyqxmd.com/read/28364294/intermediate-charcot-marie-tooth-disease-an-electrophysiological-reappraisal-and-systematic-review
#16
REVIEW
José Berciano, Antonio García, Elena Gallardo, Kristien Peeters, Ana L Pelayo-Negro, Silvia Álvarez-Paradelo, José Gazulla, Miriam Martínez-Tames, Jon Infante, Albena Jordanova
Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy with great variety of phenotypes, inheritance patterns, and causative genes. According to median motor nerve conduction velocity (MNCV), CMT is divided into demyelinating (CMT1) with MNCV below 38 m/s, axonal (CMT2) with MNCV above 38 m/s, and intermediate CMT with MNCV between 25 and 45 m/s. In each category, transmission may be autosomal dominant, autosomal recessive, or X-linked. The nosology of intermediate CMT is controversial because of concerns about electrophysiological delimitation...
March 31, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28357410/phenotypes-genotypes-and-prevalence-of-congenital-myopathies-older-than-5-years-in-denmark
#17
Nanna Witting, Ulla Werlauff, Morten Duno, John Vissing
OBJECTIVE: Congenital myopathy as a nosologic entity has long been recognized, but knowledge of overall and subtype prevalence and phenotype-genotype relationship is scarce, especially in the adult population. METHODS: A national cohort of 107 patients ≥5 years diagnosed with congenital myopathy were prospectively assessed clinically, histologically, and genetically. RESULTS: Twenty-five patients were excluded because of atypical features or alternative etiologies...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28347657/-disseminated-phytodermatitis-a-nosological-entity-to-know
#18
M Jordán-Domingo, D Sáenz-Abad, M A Muñoz-Lafoz, C A Baquer-Sahún, M C Lahoza-Pérez
No abstract text is available yet for this article.
March 24, 2017: Semergen
https://www.readbyqxmd.com/read/28343453/a-trans-diagnostic-perspective-on-obsessive-compulsive-disorder
#19
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/28343013/inflammatory-muscle-disease-a-new-landscape
#20
Alain Meyer, Béatrice Lannes, Joëlle Goetz, Andoni Echaniz-Laguna, Dan Lipsker, Laurent Arnaud, Thierry Martin, Jacques Eric Gottenberg, Bernard Geny, Jean Sibilia
Greater accuracy in clinical descriptions combined with advances in muscle histology and immunology have established that inflammatory muscle diseases (IMDs) resemble inflammatory joint diseases in that they constitute a highly heterogeneous group of conditions. The topographic distribution, severity, and tempo of onset vary widely, and the histological findings distinguish at least five different profiles, which may reflect different pathophysiological processes. Most IMDs are connective tissue diseases that can affect multiple organs, among which the most common targets are the skin, joints, and lungs...
March 22, 2017: Joint, Bone, Spine: Revue du Rhumatisme
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