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Clinically isolated syndrome

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https://www.readbyqxmd.com/read/27913517/treatment-of-low-risk-myelodysplastic-syndromes
#1
Valeria Santini
The majority of myelodysplastic syndrome (MDS) patients belong to the International Prognostic Scoring System (IPSS) and IPSS-revised (IPSS-R) lower-risk categories. Their precise diagnostics and prognostic stratification is often a challenge, but may ensure the optimization of therapy. The availability of diverse treatment options has significantly improved the quality of life and survival of this group of patients. Anemia is the most relevant cytopenia in terms of frequency and symptoms in lower-risk MDS, and may be treated successfully with erythropoietic stimulating agents, provided a careful selection is performed on the basis of IPSS-R, endogenous erythropoietin levels, and transfusion independence...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27910026/recurrent-cytogenetic-abnormalities-in-myelodysplastic-syndromes
#2
Meaghan Wall
Cytogenetic analysis has an essential role in diagnosis, classification, and prognosis of myelodysplastic syndromes (MDS). Some cytogenetic abnormalities are sufficiently characteristic of MDS to be considered MDS defining in the appropriate clinical context. MDS with isolated del(5q) is the only molecularly defined MDS subtype. The genes responsible for many aspects of 5q- syndrome, the distinct clinical phenotype associated with this condition, have now been identified. Cytogenetics forms the cornerstone of the most widely adopted prognostic scoring systems in MDS, the international prognostic scoring system (IPSS) and the revised international prognostic scoring system (IPPS-R)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27908883/association-between-cognitive-complaints-and-vulnerability-to-environmental-distraction-in-multiple-sclerosis
#3
John J Randolph, Jennifer S Randolph, Heather A Wishart
OBJECTIVE: Individuals with multiple sclerosis (MS) often report cognitive dysfunction, although neuropsychological evaluation findings may not correlate with subjective concerns. One factor that may explain this lack of correspondence is the controlled testing environment, which differs from busier settings where cognitive lapses are noted to occur. This study used a novel environmental manipulation to determine whether individuals with MS who report cognitive dysfunction are more vulnerable to the effects of auditory distraction during neuropsychological testing...
December 1, 2016: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/27907031/in-vitro-pre-clinical-validation-of-suicide-gene-modified-anti-cd33-redirected-chimeric-antigen-receptor-t-cells-for-acute-myeloid-leukemia
#4
Kentaro Minagawa, Muhammad O Jamil, Mustafa Al-Obaidi, Larisa Pereboeva, Donna Salzman, Harry P Erba, Lawrence S Lamb, Ravi Bhatia, Shin Mineishi, Antonio Di Stasi
BACKGROUND: Approximately fifty percent of patients with acute myeloid leukemia can be cured with current therapeutic strategies which include, standard dose chemotherapy for patients at standard risk of relapse as assessed by cytogenetic and molecular analysis, or high-dose chemotherapy with allogeneic hematopoietic stem cell transplant for high-risk patients. Despite allogeneic hematopoietic stem cell transplant about 25% of patients still succumb to disease relapse, therefore, novel strategies are needed to improve the outcome of patients with acute myeloid leukemia...
2016: PloS One
https://www.readbyqxmd.com/read/27906863/bartter-s-and-gitelman-s-syndrome
#5
Hannsjörg W Seyberth, Stefanie Weber, Martin Kömhoff
PURPOSE OF REVIEW: The clinical presentations of Bartter's syndrome and Gitelman's syndrome will be reviewed including two most recently described hypokalemic salt-losing tubulopathies. By taking the quite heterogeneous presentations and the apparently different pathophysiologies as the basis, the applicability of the physiologic classification has been tested. RECENT FINDINGS: According to the physiologic approach, salt-losing tubulopathies can be divided into two major groups (with completely different tubular defects): first, disorders of the thick ascending limb of Henle's loop (loop disorders); second, disorders of the distal convolute tubule (DCT disorders)...
November 30, 2016: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/27906037/integrated-therapy-for-hiv-and-cryptococcosis
#6
REVIEW
Sirawat Srichatrapimuk, Somnuek Sungkanuparph
Cryptococcosis has been one of the most common opportunistic infections and causes of mortality among HIV-infected patients, especially in resource-limited countries. Cryptococcal meningitis is the most common form of cryptococcosis. Laboratory diagnosis of cryptococcosis includes direct microscopic examination, isolation of Cryptococcus from a clinical specimen, and detection of cryptococcal antigen. Without appropriate treatment, cryptococcosis is fatal. Early diagnosis and treatment is the key to treatment success...
November 29, 2016: AIDS Research and Therapy
https://www.readbyqxmd.com/read/27903001/right-in-front-of-our-eyes-evolution-of-streptococcal-toxic-shock-syndrome-with-ischemic-optic-neuropathy
#7
Salaheldin M Elhamamsy, Mazen O Al-Qadi, Taro Minami, Marguerite Neill
INTRODUCTION: Toxic shock syndrome occurs from dysregulation of host inflammatory responses. Toxin- producing strains of Group A streptococcus cause TSS. Ischemic optic neuropathy rarely complicates septic shock. We present a rare case of streptococcal pharyngitis complicated by septic arthritis and TSS with reversible blindness due to non-arteritic ischemic optic neuropathy. CASE: A 28-year-old man drove to our ED with exudative pharyngitis. A rapid streptococcal test was positive...
December 1, 2016: Rhode Island Medical Journal
https://www.readbyqxmd.com/read/27902390/virulence-determinants-in-clinical-staphylococcus-aureus-from-monomicrobial-and-polymicrobial-infections-of-diabetic-foot-ulcers
#8
Kavitha Shettigar, Spoorthi Jain, Deepika V Bhat, Raviraj Acharya, Lingadakai Ramachandra, Kapaettu Satyamoorthy, T S Murali
Antibiotic resistance in Staphylococcus aureus is a major public health concern and Methicillin Resistant S. aureus has emerged as an important pathogen. We characterized S. aureus isolates from monomicrobial and polymicrobial wound infections from 200 diabetic individuals with foot ulcers to understand their underlying diversity and pathogenicity. Staphylococcal Cassette Chromosome mec typing was performed and genes coding for production of biofilm, Panton-Valentine Leukocidin, Toxic Shock Syndrome Toxin, Leukotoxins DE and M were screened...
October 19, 2016: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/27900347/isolated-dysphagia-as-initial-sign-of-anti-iglon5-syndrome
#9
Jens Burchard Schröder, Nico Melzer, Tobias Ruck, Anna Heidbreder, Ilka Kleffner, Ralf Dittrich, Paul Muhle, Tobias Warnecke, Rainer Dziewas
OBJECTIVE: To report on dysphagia as initial sign in a case of anti-IgLON5 syndrome and provide an overview of the current literature. METHODS: The diagnostic workup included cerebral MRI, fiber optic endoscopic evaluation of swallowing (FEES) with the FEES tensilon test, a videofluoroscopic swallowing study, evoked potentials and peripheral nerve conduction studies, polysomnography, lumbar puncture, and screening for neural autoantibodies. A systematic review of all published cases of IgLON5 syndrome is provided...
January 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/27899552/prognostic-value-of-free-light-chains-lambda-and-kappa-in-early-multiple-sclerosis
#10
Margarete M Voortman, Tatjana Stojakovic, Lukas Pirpamer, Margit Jehna, Christian Langkammer, Hubert Scharnagl, Markus Reindl, Stefan Ropele, Thomas Seifert-Held, Juan-Jose Archelos, Siegrid Fuchs, Christian Enzinger, Franz Fazekas, Michael Khalil
BACKGROUND: Cerebrospinal fluid (CSF) immunoglobulin free light chains (FLC) have been suggested as quantitative alternative to oligoclonal bands (OCB) in the diagnosis of multiple sclerosis (MS). However, little is known on their role in predicting clinical and paraclinical disease progression, particularly in early stages. OBJECTIVE: To assess the prognostic value of FLC in OCB-positive patients with clinically isolated syndrome (CIS) suggestive of MS and early MS...
November 29, 2016: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/27897360/central-atrophy-early-in-multiple-sclerosis-third-ventricle-volumetry-versus-planimetry
#11
Theodor Lutz, Barbara Bellenberg, Ruth Schneider, Florian Weiler, Odo Köster, Carsten Lukas
BACKGROUND AND PURPOSE: Cerebral atrophy has been suggested to be a reliable magnetic resonance imaging (MRI) predictor of subsequent disability in all stages of multiple sclerosis (MS). However, no accepted methodology for routine clinical use exists to date. We sought an easy to apply and fast technique to evaluate cerebral ventricular volume in patients with MS with similar accuracy as a semiautomatic volumetric method. METHODS: The study included 104 patients, 61 diagnosed with MS and 43 with clinically isolated syndrome...
November 28, 2016: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/27896188/foot-syndactyly-a-clinical-and-demographic-analysis
#12
Jong Ho Kim, Byung Jun Kim, Sung Tack Kwon
BACKGROUND: Syndactyly of the foot is the second most common congenital foot anomaly. In East Asia, however, no large case study has been reported regarding the clinical features of isolated foot syndactyly. In this study, we report a review of 118 patients during the last 25 years. METHODS: We conducted a chart review of patients who underwent surgical correction for foot syndactyly between January 1990 and December 2014. Operations were performed with a dorsal triangular flap and a full-thickness skin graft...
November 2016: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#13
REVIEW
Amanda J Yoon, Binh N Pham, Katrina M Dipple
Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic syndrome. A clinical geneticist or genetic counselor should be a member of the craniofacial team to help determine which patients have isolated anomalies and which are likely to have a syndrome. They would then arrange for the appropriate genetic testing to confirm the diagnosis of the specific syndrome...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27894238/anatomical-approach-to-clinical-problems-of-popliteal-fossa
#14
Gautam Dagur, Jason Gandhi, Noel Smith, Sardar Ali Khan
BACKGROUND: Popliteal fossa, also known as the popliteal space, is located behind the knee joint. This region can develop many clinical complications in the vascular, nervous, lymphatics, adipose, as well as swelling and masses. OBJECTIVE: The objective of this review article is to give a detailed understanding of the popliteal fossa and the clinical pathology that may present itself. METHODS: MEDLINE® searches were conducted of literature published since 1950s for "popliteal fossa," "diseases," "anatomy," "arterial," "venous," "nerves," "entrapment syndrome," "aneurysms," "cysts," "lymphatics," "solid masses," "tumors," "inflammatory lesions," and "swellings...
November 27, 2016: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/27894035/an-isothermal-label-free-and-rapid-one-step-rna-amplification-detection-assay-for-diagnosis-of-respiratory-viral-infections
#15
Bonhan Koo, Choong Eun Jin, Tae Yoon Lee, Jeong Hoon Lee, Mi Kyoung Park, Heungsup Sung, Se Yoon Park, Hyun Jung Lee, Sun Mi Kim, Ji Yeun Kim, Sung-Han Kim, Yong Shin
Recently, RNA viral infections caused by respiratory viruses, such as influenza, parainfluenza, respiratory syncytial virus, coronavirus, and Middle East respiratory syndrome-coronavirus (MERS-CoV), and Zika virus, are a major public health threats in the world. Although myriads of diagnostic methods based on RNA amplification have been developed in the last decades, they continue to lack speed, sensitivity, and specificity for clinical use. A rapid and accurate diagnostic method is needed for appropriate control, including isolation and treatment of the patients...
November 23, 2016: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/27892723/optimization-and-stratification-of-multiple-sclerosis-treatment-in-fast-developing-economic-countries-a-perspective-from-qatar
#16
Dirk Deleu, Boulenouar Mesraoua, Hisham El Khider, Beatriz Canibano, Gayane Melikyan, Hassan Al Hail, Noha Mhjob, Anjushri Bhagat, Faiza Ibrahim, Yolande Hanssens
OBJECTIVE: The introduction of disease-modifying therapies (DMTs) - with varying degrees of efficacy for reducing annual relapse rate and disability progression - has considerably transformed the therapeutic landscape of relapsing-remitting multiple sclerosis (RRMS). We aim to develop rational evidence-based treatment recommendations and algorithms for the management of clinically isolated syndrome (CIS) and RRMS conform to the healthcare system in a fast-developing economic country such as Qatar...
November 28, 2016: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/27886891/the-yield-of-diagnostic-imaging-in-patients-with-isolated-horner-syndrome
#17
REVIEW
Johanna D Beebe, Randy H Kardon, Matthew J Thurtell
We sought to determine, with a retrospective chart review, the imaging yield for patients with clinically isolated Horner syndrome. MRI/MRA of the head and neck extending from the supraorbital ridge to T4 with fat suppression and with postcontrast images was obtained. Of 88 patients with isolated Horner syndrome who were imaged, 20% had a causative etiology on imaging. The most common cause of an isolated Horner syndrome was a carotid artery dissection. There was 1 patient with a primary malignancy found to be the causative lesion in this group, and 1 patient with spread of their known metastatic disease...
February 2017: Neurologic Clinics
https://www.readbyqxmd.com/read/27885062/quantifying-risk-of-early-relapse-in-patients-with-first-demyelinating-events-prediction-in-clinical-practice
#18
Tim Spelman, Claire Meyniel, Juan Ignacio Rojas, Alessandra Lugaresi, Guillermo Izquierdo, Francois Grand'Maison, Cavit Boz, Raed Alroughani, Eva Havrdova, Dana Horakova, Gerardo Iuliano, Pierre Duquette, Murat Terzi, Pierre Grammond, Raymond Hupperts, Jeannette Lechner-Scott, Celia Oreja-Guevara, Eugenio Pucci, Freek Verheul, Marcela Fiol, Vincent Van Pesch, Edgardo Cristiano, Thor Petersen, Fraser Moore, Tomas Kalincik, Vilija Jokubaitis, Maria Trojano, Helmut Butzkueven
BACKGROUND: Characteristics at clinically isolated syndrome (CIS) examination assist in identification of patient at highest risk of early second attack and could benefit the most from early disease-modifying drugs (DMDs). OBJECTIVE: To examine determinants of second attack and validate a prognostic nomogram for individualised risk assessment of clinical conversion. METHODS: Patients with CIS were prospectively followed up in the MSBase Incident Study...
November 24, 2016: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/27884935/diagnostic-value-of-exome-and-whole-genome-sequencing-in-craniosynostosis
#19
Kerry A Miller, Stephen R F Twigg, Simon J McGowan, Julie M Phipps, Aimée L Fenwick, David Johnson, Steven A Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C Taylor, Jacqueline A C Goos, Sigrid M A Swagemakers, Irene M J Mathijssen, Peter J van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A Hurst, Jenny E V Morton, Elizabeth Sweeney, Astrid Weber, Louise C Wilson, Andrew O M Wilkie
BACKGROUND: Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ∼1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 genes have been associated with craniosynostosis, but only a minority of these are included in routine laboratory genetic testing. METHODS: We used exome or whole genome sequencing to seek a genetic cause in a cohort of 40 subjects with craniosynostosis, selected by clinical or molecular geneticists as being high-priority cases, and in whom prior clinically driven genetic testing had been negative...
November 24, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27884859/isolated-gnrh-deficiency-genotypic-and-phenotypic-characteristics-of-the-genetically-heterogeneous-greek-population
#20
Maria I Stamou, Petros Varnavas, Machi Kentrou, Fotini Adamidou, Antonis Voutetakis, Jenny Jing, Lacey Plummer, Vasiliki Koika, Neoklis A Georgopoulos
OBJECTIVE: Isolated GnRH Deficiency (IGD) is a rare heritable disorder characterized by phenotypic and genetic heterogeneity. The genetic complexity of IGD has been surfaced by analyzing clinically complex cases, structural genetic variation as well as endogamous familial cases and isolated populations, revealing an enrichment for particular genes/ pathways that reflects the homogeneous genetic background of such populations. DESIGN AND METHODS: We analyzed a cohort of 81 Greek IGD patients by performing detailed phenotyping, followed by Sanger Sequencing of 14 causative IGD genes...
November 24, 2016: European Journal of Endocrinology
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