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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/29151092/conversion-factitious-disorder-and-malingering-a-distinct-pattern-or-a-continuum
#7
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/29151089/capgras-syndrome-and-other-delusional-misidentification-syndromes
#8
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
#9
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
#10
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/29151040/meningoencephalitis-in-a-royal-marine-after-skinning-reindeer-in-norway
#11
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/29150877/patients-with-spitz-nevi-in-the-greek-population-epidemiologic-clinical-and-histopathological-characteristics
#12
Efthymia Soura, Amerini Dimitrakopoulou, Erietta Christofidou, Alexander Katoulis, Christina Antoniou, Alexander Stratigos
BACKGROUND: Spitz nevi may present with clinical and histopathological atypical features that do not affect patient prognosis, but may become worrisome for patients ≥40 years presenting with newly appearing SN. OBJECTIVE: Patient characteristics and sun behavior patterns were investigated in correlation with age. SN characteristics and histopathological attributes were also investigated in correlation with age. METHODS: Patients with histopathologicaly confirmed diagnosis of SN were invited for a clinical examination...
November 17, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29150875/treatment-of-acquired-thrombotic-thrombocytopenic-purpura-in-the-u-s-remains-heterogeneous-current-and-future-points-of-clinical-equipoise
#13
Marshall A Mazepa, Jay S Raval, Mark E Brecher, Yara A Park
BACKGROUND: The purpose of this survey was to describe current practices in the U.S. for treatment of acquired Thrombotic Thrombocytopenic Purpura (TTP), compare these with prior U.S. and current Canadian practices, and identify areas of clinical equipoise. STUDY DESIGN AND METHODS: A research team member administered the survey by telephone. Questions included an estimate of the annual patient volume treated, apheresis and medical therapy practices for acquired TTP...
November 18, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/29150868/patient-reported-health-outcomes-in-patients-with-non-melanoma-skin-cancer-and-actinic-keratosis-results-from-a-large-scale-observational-study-analysing-effects-of-diagnoses-and-disease-progression
#14
W G Philipp-Dormston, K Müller, B Novak, K Strömer, C Termeer, U Hammann, J Glutsch, G Kraehn-Senftleben, H Lübbert, M Koller, R M Szeimies
BACKGROUND: Non-melanoma skin cancer (NMSC) and actinic keratosis (AK) are very common among fair-skinned individuals. A disease continuum from AK to squamous cell carcinoma (SCC) has been frequently postulated. AK and NMSC may influence quality of life (QL) of patients, and it can be suspected that disease progression entails a QL reduction. The purpose of this study was to document QL in patients with NMSC and AK using the health-outcome questionnaire EQ-5D-5L. METHODS: The study was designed as a non-interventional, prospective, cross-sectional study...
November 17, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29150866/the-minimum-test-battery-to-screen-for-binocular-vision-anomalies-report-3-of-the-band-study
#15
Jameel Rizwana Hussaindeen, Archayeeta Rakshit, Neeraj Kumar Singh, Meenakshi Swaminathan, Ronnie George, Suman Kapur, Mitchell Scheiman, Krishna Kumar Ramani
PURPOSE: This study aims to report the minimum test battery needed to screen non-strabismic binocular vision anomalies (NSBVAs) in a community set-up. When large numbers are to be screened we aim to identify the most useful test battery when there is no opportunity for a more comprehensive and time-consuming clinical examination. METHODS: The prevalence estimates and normative data for binocular vision parameters were estimated from the Binocular Vision Anomalies and Normative Data (BAND) study, following which cut-off estimates and receiver operating characteristic curves to identify the minimum test battery have been plotted...
November 18, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/29150768/toe-web-intertrigo-in-kaposi-s-sarcoma-patients-a-microbiological-study-in-a-large-cohort-of-patients
#16
G Nazzaro, A Tourlaki, B Scoppio, A Restelli, A Grancini, L Brambilla
Kaposi 's sarcoma (KS) is a rare multifocal angioproliferative disease associated with human herpes virus 8 (HHV-8) infection, characterized by cutaneous nodules or plaques especially on the lower limbs. Some skin modifications, such as chronic lymphedema, plantar hyperkeratosis and interdigital desquamation, may be associated with consequent impairment of the local immunosurveillance and increased risk of some bacterial or mycotic infections. With the objective of evaluating if bacterial or mycotic infections in KS patients are supported by different microorganisms compared to control patients, we performed an observational retrospective study, comparing positive cultural swabs of interdigital intertrigo of KS patients with positive cultural swabs of interdigital intertrigo of patients admitted to our dermatologic unit during the last 10 years...
November 17, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/29150751/comparison-of-esc-and-acc-aha-guidelines-for-the-diagnosis-and-management-of-patients-with-stable-coronary-heart-disease-are-the-differences-clinically-relevant-an-american-perspective
#17
EDITORIAL
Raymond J Gibbons
No abstract text is available yet for this article.
November 17, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/29150742/associations-between-nucleus-size-and-immunohistochemical-galectin-3-cytokeratine-19-and-hbme-1-markers-in-thyroid-papillary-carcinoma-a-morphometric-analyze
#18
Hatice Toy, Ozlem Etli, Zeliha Esin Celik, Arsenal Sezgin Alikanoglu
This study aimed to evaluate the morphometric measurements in cases with papillary thyroid carcinoma, and determine a cut-off value to support diagnosis. Fifty cases with a diagnosis of papillary thyroid carcinoma (PTC) were included in the study with their Galectine-3, CK-19 and HBME-1 immunohistochemical staining results. Demographic and clinical data gathered from pathology reports, which included demographic information such as patients' sex, age, macroscopic tumor size, number of tumor focuses; prognostic parameters such as lenfovascular invasion, perineural invasion, thyroid capsule invasion; and results of immunohistochemical CK- 19, Galectin-3 and HBME-1 staining...
November 17, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/29150681/the-structure-function-relationship-measured-with-optical-coherence-tomography-and-a-microperimeter-with-auto-tracking-the-mp-3-in-patients-with-retinitis-pigmentosa
#19
Yuichi Asahina, Marie Kitano, Yohei Hashimoto, Mieko Yanagisawa, Hiroshi Murata, Tatsuya Inoue, Ryo Obata, Ryo Asaoka
The purpose of the current study was to investigate the structure-function relationship in patients with retinitis pigmentosa (RP) using optical coherence tomography and the MP-3 microperimeter. Visual field (VF) measurements were carried out using MP-3 microperimetry and the Humphrey Field Analyzer (HFA, Carl-Zeiss, CA), 22 eyes of 11 patients with a clinical diagnosis of RP, both with the 10-2 test grid pattern. Optical coherence tomography (OCT, Spectralis, Heidelberg, Germany) was also performed and the ellipsoid zone (EZ) was identified in the OCT image...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29150671/urothelial-cancer-proteomics-provides-both-prognostic-and-functional-information
#20
Guillermo de Velasco, Lucia Trilla-Fuertes, Angelo Gamez-Pozo, Maria Urbanowicz, Gustavo Ruiz-Ares, Juan M Sepúlveda, Guillermo Prado-Vazquez, Jorge M Arevalillo, Andrea Zapater-Moros, Hilario Navarro, Rocio Lopez-Vacas, Ray Manneh, Irene Otero, Felipe Villacampa, Jesus M Paramio, Juan Angel Fresno Vara, Daniel Castellano
Traditionally, bladder cancer has been classified based on histology features. Recently, some works have proposed a molecular classification of invasive bladder tumors. To determine whether proteomics can define molecular subtypes of  muscle invasive urothelial cancer (MIUC) and allow evaluating the status of biological processes and its clinical value. 58 MIUC patients who underwent curative surgical resection at our institution between 2006 and 2012 were included. Proteome was evaluated by high-throughput proteomics in routinely archive FFPE tumor tissue...
November 17, 2017: Scientific Reports
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