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Clinical diagnostic

Zariel I Johnson, Jacqueline D Jones, Angana Mukherjee, Dianxu Ren, Carol Feghali-Bostwick, Yvette P Conley, Cecelia C Yates
Progression of systemic scleroderma (SSc), a chronic connective tissue disease that causes a fibrotic phenotype, is highly heterogeneous amongst patients and difficult to accurately diagnose. To meet this clinical need, we developed a novel three-layer classification model, which analyses gene expression profiles from SSc skin biopsies to diagnose SSc severity. Two SSc skin biopsy microarray datasets were obtained from Gene Expression Omnibus. The skin scores obtained from the original papers were used to further categorize the data into subgroups of low (<18) and high (≥18) severity...
2018: PloS One
Almudena Pérez-Rodríguez, Javier Batlle, Irene Corrales, Nina Borràs, Ángela Rodríguez-Trillo, Esther Lourés, Ana Rosa Cid, Santiago Bonanad, Noelia Cabrera, Andrés Moret, Rafael Parra, María Eva Mingot-Castellano, Nira Navarro, Carmen Altisent, Rocío Pérez-Montes, Shally Marcellini, Ana Moreto, Sonia Herrero, Inmaculada Soto, Nuria Fernández Mosteirín, Víctor Jiménez-Yuste, Nieves Alonso, Aurora de Andrés Jacob, Emilia Fontanes, Rosa Campos, María José Paloma, Nuria Bermejo, Rubén Berrueco, José Mateo, Karmele Arribalzaga, Pascual Marco, Ángeles Palomo, Nerea Castro Quismondo, Belén Iñigo, María Del Mar Nieto, Rosa Vidal, María Paz Martínez, Reyes Aguinaco, Maria Tenorio, María Ferreiro, Javier García-Frade, Ana María Rodríguez-Huerta, Jorge Cuesta, Ramón Rodríguez-González, Faustino García-Candel, Manuela Dobón, Carlos Aguilar, Fernando Batlle, Francisco Vidal, María Fernanda López-Fernández
The multimeric analysis (MA) of plasma von Willebrand factor (VWF) evaluates structural integrity and helps in the diagnosis of von Willebrand disease (VWD). This assay is a matter of controversy, being considered by some investigators cumbersome and only slightly informative. The centralised study 'Molecular and Clinical Profile of von Willebrand Disease in Spain (PCM-EVW-ES)' has been carried out by including the phenotypic assessment and the genetic analysis by next generation sequencing (NGS) of the VWF gene (VWF)...
2018: PloS One
Pik Eu Chang, George Boon Bee Goh, Wei Qiang Leow, Liang Shen, Kiat Hon Lim, Chee Kiat Tan
BACKGROUND: Assessment of severity of liver fibrosis is essential in the management of non-alcoholic fatty liver disease (NAFLD). Second Harmonic Generation (SHG) microscopy is a novel optical tissue imaging system that provides automated quantification of fibrosis based on unique architectural features of collagen. This study aims to develop and validate a SHG-based index for automated staging of liver fibrosis in patients with NAFLD. METHODS: SHG microscopy was performed on archived liver biopsy specimens from 83 patients with NAFLD...
2018: PloS One
Laura Flatau, Markus Reitt, Gunnar Duttge, Christian Lenk, Barbara Zoll, Wolfgang Poser, Alexandra Weber, Urs Heilbronner, Marcella Rietschel, Jana Strohmaier, Rebekka Kesberg, Jonas Nagel, Thomas G Schulze
In clinical practice and in research, there is an ongoing debate on how to return incidental and secondary findings of genetic tests to patients and research participants. Previous investigations have found that most of the people most of the time are in favor of full disclosure of results. Yet, the option to reject disclosure, based on the so-called right not to know, can be valuable especially for some vulnerable subgroups of recipients. In the present study we investigated variations in informational preferences in the context of genetic testing in a large and diverse German sample...
2018: PloS One
Eric S Kilpatrick, Sverre Sandberg
The European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) has initiated many harmonization activities in all phases of the examination process. The EFLM is dealing with both the scientific and the educational aspects of harmonization, with the intention of disseminating best practice in laboratory medicine throughout Europe. Priorities have been given (1) to establish a standard for conducting and assessing biological variation studies and to construct an evidence based EFLM webpage on biological variation data, (2) to harmonize preanalytical procedures by producing European guidelines, (3) to improve test ordering and interpretation, (4) to produce other common European guidelines for laboratory medicine and play an active part in development of clinical guidelines, (5) to establish a common basis for communicating laboratory results to patients, (6) to harmonize units of measurement throughout Europe, (7) to harmonize preanalytical procedures in molecular diagnostics and (8) to harmonize and optimize test evaluation procedures...
June 20, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
Qian Yao, Yingqian Wang, Jie Wang, Shaomin Chen, Haoyang Liu, Zhuoran Jiang, Xiaoe Zhang, Song-Mei Liu, Quan Yuan, Xiang Zhou
Developing portable and sensitive devices for point of care (POC) detection of low abundance bioactive molecules is highly valuable in early diagnosis of disease. Herein, an ultrasensitive photonic crystal-assisted rolling circle amplification (PC-RCA) biochip was constructed and further applied to serum circulating microRNAs (miRNAs) detection. The biochip integrates the optical signal enhancement capability of biomimetic PC surface with the thousand-fold signal amplification feature of RCA. The biomimetic PC displayed periodic dielectric nanostructure and significantly enhanced the signal intensity of RCA reaction, leading to efficient improvement of detection sensitivity...
June 20, 2018: ACS Nano
Hege Smith Tunsjø, Sumana Kalyanasundaram, Colin Charnock, Truls Michael Leegaard, Aina E F Moen
Current clinical diagnostic procedures have shortcomings in the differentiation of Staphylococcus argenteus from Staphylococcus aureus. This article presents three cases of Staphylococcus argenteus obtained from clinical samples. The initial results from biochemical and molecular methods led to an incorrect identification of the isolates as methicillin-resistant Staphylococcus aureus. Whole genome sequencing and real-time PCR targeting the nonribosomal peptide synthetase gene led to their correct identification as methicillin-resistant Staphylococcus argenteus...
June 2018: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
A Verdelli, A Coi, A V Marzano, E Antiga, E Cozzani, P Quaglino, M La Placa, M Benucci, C De Simone, M Papini, A Parodi, F Bianchi, M Caproni
BACKGROUND: Anti-nuclear antibodies (ANA), anti-extractable nuclear antigens (ENA) and anti-dsDNA antibodies are often associated with cutaneous lupus erythematosus (CLE), with variable frequency depending on skin subtype. However, specific data based on large case-series on the pathogenetic, diagnostic, and prognostic meaning of such autoantibodies are still lacking. OBJECTIVE: To characterize the correlations between CLE subtypes as well as LE-non specific skin lesions and their autoantibody pattern...
June 20, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Sarah Lohrenz, Jessica Minion, Mamata Pandey, Kumudhini Karunakaran
In the literature, cases of blastomycosis in Canada have been documented in provinces bordering the Great Lakes, including Ontario and Quebec, as well as Manitoba. This is the first study to our knowledge reporting cases of mycosis seen in southern Saskatchewan suggesting a broader area of endemicity. We searched the Regina Qu'Appelle Health Region (RQHR) Microbiology Laboratory for all culture-confirmed cases of Blastomyces from January 2000 to December 2015 and identified 15 cases. Thirteen cases were reviewed, identifying common presenting symptoms, misdiagnosis, comorbidities, travel history, time from presentation to diagnosis, diagnostic specimen, treatment, and clinical outcome...
June 19, 2018: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
Sabine Ruf, Niko C Bock
Background: The aetiology of temporomandibular disorders (TMD) is controversial and post-orthodontic long-term TMD data of Class II populations are scarce. Objectives: To analyse the long-term (≥15 years) effects of Herbst-multibracket appliances (MBA) Class II treatment (Tx) on signs and symptoms of TMD. Subjects and methods: All patients (University of Giessen, Germany) who underwent Herbst-MBA Tx (end of active Tx ≥ 15 years ago), could be located and agreed to participate in a recall...
June 19, 2018: European Journal of Orthodontics
Larissa Karine Leite Portocarrero, Klícia Novais Quental, Luciana Paula Samorano, Zilda Najjar Prado de Oliveira, Maria Cecília da Matta Rivitti-Machado
Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Due to the wide phenotypic variability, the disease is often not recognized. Tuberous sclerosis complex affects one in 10,000 newborns and most patients are diagnosed during the first 15 months of life. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International Tuberous Sclerosis Complex Consensus Conference...
June 2018: Anais Brasileiros de Dermatologia
Daniela Gomes Cunha, Luiza Erthal de Britto Pereira Kassuga-Roisman, Luisa Kelmer Côrtes de Barros Silveira, Fabiane Carvalho de Macedo
Clear cell acanthoma is an uncommon type of benign epithelial tumor. Typically, it is a solitary lesion found on the lower limbs. It presents as a nodule or small plaque with slow and well-defined growth. Diagnosis used to be clinical and histopathological, but the advent of dermoscopy has led to an increase in diagnostic accuracy. We describe a case in which dermoscopy proved highly useful for diagnosis of the lesion.
June 2018: Anais Brasileiros de Dermatologia
Anita Rotter, Luciana Paula Samorano, Maria Cecília Rivitti-Machado, Zilda Najjar Prado Oliveira, Bernardo Gontijo
Infantile hemangioma can be linked to other organ malformations. In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cervical region, with malformations of the posterior fossa of the brain, arterial anomalies of the central nervous system, coarctation of the aorta, cardiac defects, and ocular abnormalities. Over 300 cases of PHACE syndrome have been reported, and it is cconsidered one of the most common neurocutaneous vascular disorders in childhood...
June 2018: Anais Brasileiros de Dermatologia
Karlos Frederico Castelo Branco Sancho, Claudio Zett, Iran Gonçalves Júnior, Melina Correia Morales, Maurício Maia, Rubens Belfort Mattos Neto
PURPOSE: We aimed to evaluate the effects of oral propranolol for circumscribed choroidal hemangioma. METHODS: In this prospective, longitudinal interventional study, we administered oral propranolol at a dosage of 1.5 mg/kg/day to five patients with circumscribed choroidal hemangioma. We then evaluated visual acuity, binocular indirect ophthalmoscopy, optical coherence tomography, optical coherence tomography angiography, fluorescein and indocyanine green angiography, and ocular ultrasonography at regular intervals and compared changes from the baseline assessments...
June 2018: Arquivos Brasileiros de Oftalmologia
Zhengru Liu, Ke Zhou, Shan Tian, Weiguo Dong
RATIONALE: Ulcerative colitis is a chronic and recurrent inflammatory disease involving the intestine. It is reported that about 40% of patients with ulcerative colitis have extraintestinal manifestations, where as the literature on neurological involvement as extraintestinal manifestation is rather limited. Guillain-Barré syndrome is an abnormal immune-mediated and acute-acquired demyelinating disease that mainly affects the peripheral nervous system and often has a phenomenon of protein-cell separation of cerebrospinal fluid...
June 2018: Medicine (Baltimore)
Belinda Sheary
BACKGROUND: Concerns about topical steroid withdrawal (TSW) are leading some patients to cease long-term topical corticosteroid (TCS) therapy. Diagnostic criteria for this condition do not exist. OBJECTIVE: The aim of this study was to examine the demographics and outcomes in adult patients who believe they are experiencing TSW following discontinuation of chronic TCS overuse. METHODS: This was a retrospective cohort study of patients in an Australian general practice presenting with this clinical scenario between January 2015 and February 2018...
June 19, 2018: Dermatitis
Deborah L M Rupert, Mokhtar Mapar, Ganesh Vilas Shelke, Karin Norling, Mathias Elmeskog, Jan O Lotvall, Stephan Block, Marta Bally, Björn Agnarsson, Fredrik Höök
Extracellular vesicles (EVs) are generating a growing interest due to the key roles they play in various biological processes and because of their potential use as biomarkers in clinical diagnostics and as efficient carriers in drug-delivery and gene-therapy applications. Their full exploitation, however, depends critically on the possibility to classify them into different sub-populations, a task that in turn relies on efficient means to identify their unique biomolecular and physical signatures. Due to the large heterogeneity of EV samples, such information remains rather elusive and there is accordingly a need for new and complementary characterization schemes that can help expanding the library of distinct EV features...
June 20, 2018: Langmuir: the ACS Journal of Surfaces and Colloids
Arish Noor, Amruta Panwala, Faripour Forouhar, George Y Wu
Herpes virus hepatitis varies in presentation, ranging from asymptomatic to acute liver failure, in both immunocompetent and immunocompromised individuals. Hepatitis caused by herpes viridae family is uncommon and usually results in mild diseases. It is also often self-limited, although in certain populations especially immunosuppressive patients it can cause severe infections, leading to acute to fulminant hepatic failure. In addition, some isolated cases of fulminant disease in immunocompetent individuals have been reported...
June 20, 2018: Journal of Digestive Diseases
Neil M Carleton, George Lee, Anant Madabhushi, Robert W Veltri
Nuclear alterations are a hallmark of many types of cancers, including prostate cancer (PCa). Recent evidence shows that subvisual changes, ones that may not be visually perceptible to a pathologist, to the nucleus and its ultrastructural components can precede visual histopathological recognition of cancer. Alterations to nuclear features, such as nuclear size and shape, texture, and spatial architecture, reflect the complex molecular-level changes that occur during oncogenesis. Quantitative nuclear morphometry, a field that uses computational approaches to identify and quantify malignancy-induced nuclear changes, can enable a detailed and objective analysis of the PCa cell nucleus...
June 20, 2018: Journal of Cellular Biochemistry
O Fernandez, M Tintore, A Saiz, M C Calles-Hernandez, M Comabella, Ll Ramio-Torrenta, A Oterino, G Izquierdo, N Tellez, J A Garcia-Merino, Ll Brieva, C Arnal-Garcia, Y Aladro, M M Mendibe-Bilbao, J E Meca-Lallana, L Romero-Pinel, R Ginestal, M L Martinez-Gines, R Arroyo, A Rodriguez-Antiguedad
The Post-ECTRIMS Meeting is an emblematic event in the field of multiple sclerosis in Spain. Its chief aim is bring together the country's leading specialist neurologists to analyse the main advances made in multiple sclerosis and to review the most important topics addressed at the ECTRIMS Congress. The tenth Post-ECTRIMS Meeting was held in November 2017. Over the years this event has firmly established itself as an important meeting point where experts from all over the country get together to foster communication, establish synergies and promote and enhance research ultimately aimed at improving the prognosis and quality of life of patients with multiple sclerosis...
July 1, 2018: Revista de Neurologia
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