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https://www.readbyqxmd.com/read/29151258/clinical-significance-of-disease-specific-myd88-mutations-in-circulating-dna-in-primary-central-nervous-system-lymphoma
#1
Keiichiro Hattori, Mamiko Sakata-Yanagimoto, Yasuhito Suehara, Yasuhisa Yokoyama, Takayasu Kato, Naoki Kurita, Hidekazu Nishikii, Naoshi Obara, Shingo Takano, Eiichi Ishikawa, Akira Matsumura, Yuichi Hasegawa, Shigeru Chiba
Recent sequencing studies demonstrated the MYD88 L265P mutation in more than 70% of primary central nervous system lymphomas (PCNSL), and the clinical significance of this mutation has been proposed as diagnostic and prognostic markers in PCNSL. On the other hand, mutational analyses using cell-free DNAs have been reported in a variety of systemic lymphomas. To investigate how sensitively the MYD88 L265P mutation can be identified in cell-free DNA from PCNSL patients, we performed droplet digital PCR (ddPCR) and targeted deep sequencing (TDS) in consecutive 14 PCNSL patients from whom paired tumor-derived DNA and cell-free DNA was available at diagnosis...
November 19, 2017: Cancer Science
https://www.readbyqxmd.com/read/29151257/oral-cancer-knowledge-attitudes-and-practices-among-dentists-in-khartoum-state-sudan
#2
Nada H M Ahmed, Sudeshni Naidoo
The dental professions hold an important responsibility in the control of oral cancer and the early diagnosis highly depends on their knowledge. The present study was developed to assess the knowledge, attitude, and practice of dentists in Khartoum State regarding oral cancer prevention and early detection. An administered questionnaire was structured and sent to all licensed 130 dentists working in public dental clinics in Khartoum State. Responses to the questionnaire were analyzed using descriptive and analytical statistics...
November 18, 2017: Journal of Cancer Education: the Official Journal of the American Association for Cancer Education
https://www.readbyqxmd.com/read/29151245/hearing-impairment-caused-by-mutations-in-two-different-genes-responsible-for-nonsyndromic-and-syndromic-hearing-loss-within-a-single-family
#3
Katarzyna Niepokój, Agnieszka M Rygiel, Piotr Jurczak, Aleksandra A Kujko, Dominika Śniegórska, Justyna Sawicka, Alicja Grabarczyk, Jerzy Bal, Katarzyna Wertheim-Tysarowska
Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic...
November 18, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29151169/parkinson-s-disease-experimental-models-and-reality
#4
REVIEW
Peizhou Jiang, Dennis W Dickson
Parkinson's disease (PD) is a chronic, progressive movement disorder of adults and the second most common neurodegenerative disease after Alzheimer's disease. Neuropathologic diagnosis of PD requires moderate-to-marked neuronal loss in the ventrolateral substantia nigra pars compacta and α-synuclein (αS) Lewy body pathology. Nigrostriatal dopaminergic neurodegeneration correlates with the Parkinsonian motor features, but involvement of other peripheral and central nervous system regions leads to a wide range of non-motor features...
November 18, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29151166/t2-weighted-images-are-superior-to-other-mr-image-types-for-the-determination-of-diffuse-intrinsic-pontine-glioma-intratumoral-heterogeneity
#5
Stephen Harward, S Harrison Farber, Michael Malinzak, Oren Becher, Eric M Thompson
PURPOSE: Diffuse intrinsic pontine glioma (DIPG) remains the main cause of death in children with brain tumors. Given the inefficacy of numerous peripherally delivered agents to treat DIPG, convection enhanced delivery (CED) of therapeutic agents is a promising treatment modality. The purpose of this study was to determine which MR imaging type provides the best discrimination of intratumoral heterogeneity to guide future stereotactic implantation of CED catheters into the most cellular tumor regions...
November 18, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29151129/one-novel-and-two-uncommon-mefv-mutations-in-japanese-patients-with-familial-mediterranean-fever-a-clinicogenetic-study
#6
Dai Kishida, Masahide Yazaki, Akinori Nakamura, Fumio Nomura, Takeshi Kondo, Takanori Uehara, Masatomi Ikusaka, Akira Ohya, Norihiko Watanabe, Ryuta Endo, Satoshi Kawaai, Yasuhiro Shimojima, Yoshiki Sekijima
Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent episodes of fever and polyserositis. To date, over 317 MEFV mutations have been reported, only nine of which account for almost all Japanese patients with FMF. Therefore, the prevalence of rare MEFV variants and their clinical characteristics remains unclear. This study identified MEFV mutations previously unreported in the Japanese population and described their clinical features...
November 18, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29151098/the-alice-in-wonderland-syndrome
#7
Douglas J Lanska, John R Lanska
In 1955, English psychiatrist John Todd defined the Alice-in-Wonderland syndrome (AIWS) as self-experienced paroxysmal body-image illusions involving distortions of the size, mass, or shape of the patient's own body or its position in space, often accompanied by depersonalization and/or derealization. AIWS had been described by American Neurologist Caro Lippman in 1952, but Todd's report was the most influential. Todd named the syndrome for the perceptual disorder of altered body image experienced by the protagonist in Alice's Adventures in Wonderland (1865) by Lewis Carroll (Charles Lutwidge Dodgson)...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29151093/munchausen-syndrome-and-the-wide-spectrum-of-factitious-disorders
#8
Laurent Tatu, Selma Aybek, Julien Bogousslavsky
Since its initial description in 1851, Munchausen syndrome has been widely used interchangeably with factitious disorder. Nevertheless, this syndrome is only one form of factitious disorder that is both severe and chronic. The syndrome was named after Karl Friedrich Hieronymus, Baron von Münchhausen (1720-1797), a German nobleman who became famous as a narrator of false and exaggerated exploits. His name was progressively corrupted to Munchausen. Factitious disorders and Munchausen syndrome remain a great diagnosis challenge for physicians...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29151092/conversion-factitious-disorder-and-malingering-a-distinct-pattern-or-a-continuum
#9
Silvio Galli, Laurent Tatu, Julien Bogousslavsky, Selma Aybek
This chapter is aimed at highlighting the recent findings concerning physiopathology, diagnosis, and management of conversion, factitious disorder, and malingering. Conversion disorder is the unintentional production of neurological symptom, whereas malingering and factitious disorder represent the voluntary production of symptoms with internal or external incentives. They have a close history and this has been frequently confounded. Practitioners are often confronted to medically unexplained symptoms; they represent almost 30% of neurologist's consultation...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29151090/de-cl%C3%A3-rambault-syndrome-othello-syndrome-folie-%C3%A3-deux-and-variants
#10
Montserrat G Delgado, Julien Bogousslavsky
Non-bizarre delusion, defined as a false belief possible although highly unlikely, is the main manifestation of delusional disorders, previously known as paranoia. Based on the predominant delusional themes, 5 main subtypes may be described - erotomanic, grandiose, jealous, persecutory, and somatic. We present here 2 main delusional disorders, the De Clérambault syndrome and the Othello syndrome, and another closely related to the previous ones - Folie à deux. In the De Clérambault syndrome, the main delusional theme is erotomanic type, related to passional delirium where the patient has strong sexual feelings towards another person and has the belief that this other person is deeply in love with him or her...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29151089/capgras-syndrome-and-other-delusional-misidentification-syndromes
#11
Alain Barrelle, J-P Luauté
The delusional misidentification syndromes (DMS) are a group of disorders, characterized by patients mistaking the identity of people they know, although they recognize them physically. The term DMS is an umbrella term which may cover disorders whose definition extends to objects other than people, such as animals, places, or familiar material objects. The most common and best known DMS is Capgras syndrome. In this disorder, the misidentification leads to the delusional conviction that a close friend or relative has been replaced by an identical - or almost identical - "double," whose original has disappeared...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29151060/genetics-of-parkinson-s-disease-and-related-disorders
#12
REVIEW
Pei-Lan Zhang, Yan Chen, Chen-Hao Zhang, Yu-Xin Wang, Pedro Fernandez-Funez
Parkinson's disease (PD) is a complex and heterogeneous neurological condition characterised mainly by bradykinesia, resting tremor, rigidity and postural instability, symptoms that together comprise the parkinsonian syndrome. Non-motor symptoms preceding and following clinical onset are also helpful diagnostic markers revealing a widespread and progressive pathology. Many other neurological conditions also include parkinsonism as primary or secondary symptom, confounding their diagnosis and treatment. Although overall disease course and end-stage pathological examination single out these conditions, the significant overlaps suggest that they are part of a continuous disease spectrum...
November 18, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29151051/subclinical-propionibacterium-acnes-infection-estimation-in-the-intervertebral-disc-spine-id-protocol-for-a-prospective-cohort
#13
Nelson Astur, Delio E Martins, Marcelo Wajchenberg, Mario Ferretti, Fernando G Menezes, Andre M Doi, Laercio A Rosemberg, Durval C B Santos, Alexandre S Iutaka, Luciano M R Rodrigues, Marines D V Martino, Jorge R Pagura, Eduardo N Kihara Filho, Mario Lenza
INTRODUCTION: Low back pain and vertebral endplate abnormalities are common conditions within the population. Subclinical infection caused by indolent pathogens can potentially lead to these findings, with differentiation between them notably challenging from a clinical perspective. Progressive infection of the intervertebral disc has been extensively associated with increasing low back pain, with Propionibacterium acnes specifically implicated with in relation to sciatica. The main purpose of this study is to identify if the presence of an infective pathogen within the intervertebral disc is primary or is a result of intraoperative contamination, and whether this correlates to low back pain...
November 17, 2017: BMJ Open
https://www.readbyqxmd.com/read/29151046/the-association-between-gastro-oesophageal-reflux-disease-and-subsequent-rheumatoid-arthritis-occurrence-a-nested-case-control-study-from-taiwan
#14
Herng-Ching Lin, Sudha Xirasagar, Cha-Ze Lee, Chung-Chien Huang, Chao-Hung Chen
OBJECTIVE: Gastro-oesophageal reflux disease (GORD) is a common comorbidity among patients with rheumatoid arthritis (RA). While GORD has been attributed to the antirheumatic medications, no studies of human cohorts have investigated a link between GORD and RA. This study investigates whether GORD is associated with a subsequent RA diagnosis over a 5-year follow-up using a population-based dataset. SETTING: Taiwan PARTICIPANTS: We used data from the Taiwan Longitudinal Health Insurance Database...
November 17, 2017: BMJ Open
https://www.readbyqxmd.com/read/29151042/patient-centered-assessment-on-disease-burden-quality-of-life-and-treatment-satisfaction-associated-with-acromegaly
#15
Shuqian Liu, Daphne T Adelman, Yaping Xu, Jillone Sisco, Susan M Begelman, Susan M Webb, Xavier Badia, Tina K Thethi, Vivian Fonseca, Lizheng Shi
The study aimed to assess the economic burden, health-related quality of life (HRQoL), and acromegaly treatment satisfaction in the USA. A web-based, cross-sectional survey was distributed to members of Acromegaly Community. Data related to comorbidities, treatment patterns, and treatment satisfaction were collected. The costs over the past 3 months included out-of-pocket cost, sick leave, leave of absence, direct loss of job due to acromegaly, unemployment, assistance to perform household chores, and family member loss of income...
November 18, 2017: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://www.readbyqxmd.com/read/29151040/meningoencephalitis-in-a-royal-marine-after-skinning-reindeer-in-norway
#16
Christopher A Pollard, D S Burns, B Ho, A McD Johnston
Meningoencephalitis presenting in service personnel overseas may present a diagnostic challenge due to the broad range of potential differential diagnosis as well as the requirement for rapid assessment and treatment. A 25-year-old Royal Marine was evacuated to the Royal Centre for Defence Medicine in Birmingham, UK, with a history of rash consistent with erythema chronicum migrans, a seizure, and lymphocytic pleocytosis after skinning reindeer in Norway. Neuroborreliosis was suspected and empirical antibiotics were administered...
November 18, 2017: Journal of the Royal Army Medical Corps
https://www.readbyqxmd.com/read/29151020/complications-of-regional-citrate-anticoagulation-accumulation-or-overload
#17
Antoine G Schneider, Didier Journois, Thomas Rimmelé
Regional citrate anticoagulation (RCA) is now recommended over systemic heparin for continuous renal replacement therapy in patients without contraindications. Its use is likely to increase throughout the world. However, in the absence of citrate blood level monitoring, the diagnosis of citrate accumulation, the most feared complication of RCA, remains relatively complex. It is therefore commonly mistaken with other conditions. This review aims at providing clarifications on RCA-associated acid-base disturbances and their management at the bedside...
November 19, 2017: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/29151012/the-role-and-timing-of-treatment-strategies-during-two-stage-revision-for-periprosthetic-joint-infections
#18
Shobhit Minhas, Russell Odono, Kristopher Collins, Jonathan Vigdorchik, Ran Schwarzkopf
INTRODUCTION: Prosthetic joint infection continues to be a source of significant morbidity to patients and an economic burden to society as a whole. Two-stage revision is the current gold standard for treatment of periprosthetic joint infection in North America. Despite this, much discussion persists about treatment strategies surrounding the interim of the two-stage revision and treatment beyond reimplantation. The aim of this review is to answer some of these questions, specifically: are C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) helpful prior to reimplantation, is aspiration helpful, what is the role and timing for systemic antibiotics, and is there a role for oral suppression following second-stage reimplantation? METHODS: A literature review was completed in an attempt to address unanswered questions associated with two-stage reimplantation...
December 2017: Bulletin of the Hospital for Joint Diseases
https://www.readbyqxmd.com/read/29151006/the-practical-update-for-family-physicians-in-the-diagnosis-and-management-of-overactive-bladder-and-lower-urinary-tract-symptoms
#19
Jack Barkin, Jeffrey Habert, Amy Wong, Livia Y T Lee
OBJECTIVE: To provide family physicians with an up-to-date, practical overview of the diagnosis and management of overactive bladder (OAB) alone or with bladder outlet obstruction. MAIN MESSAGE: OAB is urinary urgency with or without incontinence, often accompanied by frequency and nocturia, in the absence of urinary tract infection and can affect both men and women. Men often have co-existing OAB associated with bladder outlet obstruction, and benign prostatic hyperplasia...
October 2017: Canadian Journal of Urology
https://www.readbyqxmd.com/read/29150916/outbreak-investigation-and-molecular-diagnosis-of-lumpy-skin-disease-among-livestock-in-saudi-arabia-2016
#20
S Kasem, M Saleh, I Qasim, O Hashim, A Alkarar, A Abu-Obeida, A Gaafer, R Hussien, A Al-Sahaf, A Al-Doweriej, F Bayoumi, A Hodhood, M Abdelatif
Lumpy skin disease (LSD) is a highly infectious disease of cattle caused by a virus of the Capripoxvirus genus in the family Poxviridae. The disease is a major concern for the dairy industry in Saudi Arabia. In this study, an outbreak of LSD in cattle herds was detected in Saudi Arabia in 2016. LSD outbreak was investigated in five regions of Saudi Arabia: Al-Hassa, Al-Sharqia, Al-Qassim, Riyadh and Al-Taif during the period from April to July 2016. Tissues from skin nodules were collected to characterize the virus by a real-time polymerase chain reaction (rt-PCR)...
November 17, 2017: Transboundary and Emerging Diseases
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