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Clinically isolated syndrome

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https://www.readbyqxmd.com/read/29228180/longitudinal-structural-and-molecular-neuroimaging-in-agrammatic-primary-progressive-aphasia
#1
Katerina A Tetzloff, Joseph R Duffy, Heather M Clark, Edythe A Strand, Mary M Machulda, Christopher G Schwarz, Matthew L Senjem, Robert I Reid, Anthony J Spychalla, Nirubol Tosakulwong, Val J Lowe, Clifford R Jack, Keith A Josephs, Jennifer L Whitwell
The agrammatic variant of primary progressive aphasia affects normal grammatical language production, often occurs with apraxia of speech, and is associated with left frontal abnormalities on cross-sectional neuroimaging studies. We aimed to perform a detailed assessment of longitudinal change on structural and molecular neuroimaging to provide a complete picture of neurodegeneration in these patients, and to determine how patterns of progression compare to patients with isolated apraxia of speech (primary progressive apraxia of speech)...
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29223794/a-new-t2-lesion-in-a-patient-with-the-clinically-isolated-syndrome-does-not-necessarily-imply-a-conversion-to-multiple-sclerosis
#2
Fioravante Capone, Marco Puthenparampil, Carlo Augusto Mallio, Alessandra Ida Celia, Lucia Florio, Paolo Gallo, Vincenzo Di Lazzaro
In the follow-up of patients with the clinically isolated syndrome, both clinical and MRI findings should be carefully evaluated by clinicians to avoid misinterpretation and inappropriate diagnosis of multiple sclerosis. We describe a case of a patient with a previous diagnosis of clinically isolated syndrome who developed a new asymptomatic brain lesion at the MRI follow-up. The careful evaluation of clinical history and radiological findings allowed the correct diagnosis of cocaine-associated ischemic stroke...
December 7, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29223473/-cryptogenic-west-syndrome-clinical-profile-response-to-treatment-and-prognostic-factors
#3
María Calderón Romero, Elena Arce Portillo, Mercedes López Lobato, Beatriz Muñoz Cabello, Bárbara Blanco Martínez, Marcos Madruga Garrido, Olga Alonso Luego
INTRODUCTION: West syndrome (WS) is an age-dependent epileptic encephalopathy in which the prognosis varies according to the, not always identified, underlying origin. OBJECTIVES: To define the profile of cryptogenic (a least studied isolated sub-group) WS, in Spain. To study its outcome, response to different treatments, and to establish prognostic factors. PATIENTS AND METHODS: The study included a review of the medical records of 16 patients diagnosed with cryptogenic WS during the period, 2000-2015...
December 6, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/29222697/clinical-implications-of-rapid-eplex%C3%A2-respiratory-pathogen-panel-testing-compared-to-laboratory-developed-real-time-pcr
#4
Anneloes L van Rijn, Roel H T Nijhuis, Vincent Bekker, Geert H Groeneveld, Els Wessels, Mariet C W Feltkamp, Eric C J Claas
Rapid diagnosis of respiratory infections is of great importance for adequate isolation and treatment. Due to the batch-wise testing, laboratory-developed real-time polymerase chain reaction (PCR) assays (LDT) often result in a time to result of one day. Here, LDT was compared with rapid ePlex® Respiratory Pathogen (RP) Panel testing of GenMark Diagnostics (Carlsbad, CA, USA) with regard to time to result, installed isolation precautions, and antibacterial/antiviral treatment. Between January and March 2017, 68 specimens of 64 patients suspected of an acute respiratory infection were tested with LDT and the ePlex® RP panel...
December 8, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/29216728/optimization-of-eva-green-real-time-mpcr-for-differentiating-c-jejuni-coli-directly-from-feces
#5
M Pavlova, V Velev, E Dobreva, G Asseva, I Ivanov, P Petrov, A Mangarov, I Tomova, T Kantardjiev
OBJECTIVE: To develop and optimize a rapid molecular method for diagnosing campylobacteriosis directly from a clinical fecal sample and at the same time for determining the most common causing agents - C. jejuni/coli. MATERIALS AND METHODS: 38 clinical fecal samples from hospitalized patients with diarrheal syndrome were tested using a rapid immunochromatographic test. All positive samples were tested for confirmation by culturing in a microaerophilic atmosphere...
2017: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/29216183/presentation-of-life-threatening-invasive-nontyphoidal-salmonella-disease-in-malawian-children-a-prospective-observational-study
#6
Calman A MacLennan, Chisomo L Msefula, Esther N Gondwe, James J Gilchrist, Paul Pensulo, Wilson L Mandala, Grace Mwimaniwa, Meraby Banda, Julia Kenny, Lorna K Wilson, Amos Phiri, Jenny M MacLennan, Elizabeth M Molyneux, Malcolm E Molyneux, Stephen M Graham
Nontyphoidal Salmonellae commonly cause invasive disease in African children that is often fatal. The clinical diagnosis of these infections is hampered by the absence of a clear clinical syndrome. Drug resistance means that empirical antibiotic therapy is often ineffective and currently no vaccine is available. The study objective was to identify risk factors for mortality among children presenting to hospital with invasive Salmonella disease in Africa. We conducted a prospective study enrolling consecutive children with microbiologically-confirmed invasive Salmonella disease admitted to Queen Elizabeth Central Hospital, Blantyre, in 2006...
December 7, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29214924/different-protein-and-derivatives-supplementation-strategies-combined-with-resistance-training-in-pre-frail-and-frail-elderly-rationale-and-protocol-for-the-pro-elderly-study
#7
Alan Lins Fernandes, Ana Paula Hayashi, José Claudio Jambassi-Filho, Mariana Dutilh de Capitani, Davi Alves de Santana, Bruno Gualano, Hamilton Roschel
BACKGROUND: Frailty is a multifactorial geriatric syndrome characterized by progressive decline in health and associated with decreased muscle mass, strength, and functional capacity. Resistance training (RT) combined with protein or amino acids supplementation has been shown to be promising for mitigating age-related impairments. AIM: To investigate the chronic effects of different strategies of protein and derivatives supplementation in association with RT on selected health-related parameters in pre-frail and frail elderly...
December 2017: Nutrition and Health
https://www.readbyqxmd.com/read/29207948/homozygous-grid2-missense-mutation-predicts-a-shift-in-the-d-serine-binding-domain-of-glud2-in-a-case-with-generalized-brain-atrophy-and-unusual-clinical-features
#8
Zafar Ali, Shumaila Zulfiqar, Joakim Klar, Johan Wikström, Farid Ullah, Ayaz Khan, Uzma Abdullah, Shahid Baig, Niklas Dahl
BACKGROUND: Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or biallelic GRID2 mutations were recently reported in rare cases with cerebellar syndrome and variable degree of ataxia, ocular symptoms, hypotonia and developmental delay. CASE PRESENTATION: We report on a consanguineous family with autosomal recessive childhood onset of slowly progressive cerebellar ataxia and delayed psychomotor development in three siblings...
December 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29207816/non-catheter-related-perioperative-superior-vena-cava-syndrome-following-surgical-vsd-closure-role-of-transesophageal-echocardiography
#9
Tanveer Singh Kundra, Divya Gopal, Manasa Dhananjaya
Unintentional iatrogenic surgical complications can complicate the operative and postoperative courses of paediatric cardiac surgery patients. Unless recognized and treated early, it's possible, these complications may lead to a prolonged hospital stay, increased treatment cost, morbidity, and even death. Ventricular Septal Defect (VSD) is the most common congenital heart defect in children, occurring in 50% of all children with congenital heart disease and in 20% as an isolated lesion. Herein, we discuss the development of Superior Vena Cava (SVC) syndrome following surgical repair of VSD in a nine-month-old child...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29206944/the-direct-and-indirect-effects-of-kisspeptin-54-on-granulosa-lutein-cell-function
#10
L A Owens, A Abbara, A Lerner, S O'floinn, G Christopoulos, S Khanjani, R Islam, K Hardy, A C Hanyaloglu, S A Lavery, W S Dhillo, S Franks
STUDY QUESTION: What are the in vivo and in vitro actions of kisspeptin-54 on the expression of genes involved in ovarian reproductive function, steroidogenesis and ovarian hyperstimulation syndrome (OHSS) in granulosa lutein (GL) cells when compared with traditional triggers of oocyte maturation? SUMMARY ANSWER: The use of kisspeptin-54 as an oocyte maturation trigger augmented expression of genes involved in ovarian steroidogenesis in human GL cells including, FSH receptor (FSHR), LH/hCG receptor (LHCGR), steroid acute regulatory protein (STAR), aromatase, estrogen receptors alpha and beta (ESR1, ESR2), 3-beta-hydroxysteroid dehydrogenase type 2 (3BHSD2) and inhibin A (INHBA), when compared to traditional maturation triggers, but did not alter markers of OHSS...
December 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29206893/the-cerebellar-cognitive-affective-schmahmann-syndrome-scale
#11
Franziska Hoche, Xavier Guell, Mark G Vangel, Janet C Sherman, Jeremy D Schmahmann
Cerebellar cognitive affective syndrome (CCAS; Schmahmann's syndrome) is characterized by deficits in executive function, linguistic processing, spatial cognition, and affect regulation. Diagnosis currently relies on detailed neuropsychological testing. The aim of this study was to develop an office or bedside cognitive screen to help identify CCAS in cerebellar patients. Secondary objectives were to evaluate whether available brief tests of mental function detect cognitive impairment in cerebellar patients, whether cognitive performance is different in patients with isolated cerebellar lesions versus complex cerebrocerebellar pathology, and whether there are cognitive deficits that should raise red flags about extra-cerebellar pathology...
December 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29202449/clonal-relationships-of-csf-b-cells-in-treatment-naive-multiple-sclerosis-patients
#12
Erica L Eggers, Brady A Michel, Hao Wu, Sheng-Zhi Wang, Carolyn J Bevan, Aya Abounasr, Natalie S Pierson, Antje Bischof, Max Kazer, Elizabeth Leitner, Ariele L Greenfield, Stanislas Demuth, Michael R Wilson, Roland G Henry, Bruce Ac Cree, Stephen L Hauser, H-Christian von Büdingen
A role of B cells in multiple sclerosis (MS) is well established, but there is limited understanding of their involvement during active disease. Here, we examined cerebrospinal fluid (CSF) and peripheral blood (PB) B cells in treatment-naive patients with MS or high-risk clinically isolated syndrome. Using flow cytometry, we found increased CSF lymphocytes with a disproportionate increase of B cells compared with T cells in patients with gadolinium-enhancing (Gd+) lesions on brain MRI. Ig gene heavy chain variable region (Ig-VH) repertoire sequencing of CSF and PB B cells revealed clonal relationships between intrathecal and peripheral B cell populations, which could be consistent with migration of B cells to and activation in the CNS in active MS...
November 16, 2017: JCI Insight
https://www.readbyqxmd.com/read/29196624/rna-seq-of-serial-kidney-biopsies-obtained-during-progression-of-chronic-kidney-disease-from-dogs-with-x-linked-hereditary-nephropathy
#13
Candice P Chu, Jessica A Hokamp, Rachel E Cianciolo, Alan R Dabney, Candice Brinkmeyer-Langford, George E Lees, Mary B Nabity
Dogs with X-linked hereditary nephropathy (XLHN) have a glomerular basement membrane defect that leads to progressive juvenile-onset renal failure. Their disease is analogous to Alport syndrome in humans, and they also serve as a good model of progressive chronic kidney disease (CKD). However, the gene expression profile that affects progression in this disease has only been partially characterized. To help fill this gap, we used RNA sequencing to identify differentially expressed genes (DEGs), over-represented pathways, and upstream regulators that contribute to kidney disease progression...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29196354/multiple-sclerosis-a-treatable-disease%C3%A2
#14
Anisha Doshi, Jeremy Chataway
This article reviews our current understanding and modern treatment of multiple sclerosis (MS). MS is a disabling condition resulting in devastating social and economic impacts. As MS can affect any part of the central nervous system, the presentation is often diverse; however, there are key features that can be useful in the clinic. We comment on the diagnostic criteria and review the main subtypes of MS, including clinically isolated syndrome, relapsing remitting MS, secondary progressive MS and primary progressive MS...
December 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/29194985/a-multiplex-reverse-transcription-pcr-and-automated-electronic-microarray-assay-for-detection-and-differentiation-of-seven-viruses-affecting-swine
#15
A Erickson, M Fisher, T Furukawa-Stoffer, A Ambagala, D Hodko, J Pasick, D P King, C Nfon, R Ortega Polo, O Lung
Microarray technology can be useful for pathogen detection as it allows simultaneous interrogation of the presence or absence of a large number of genetic signatures. However, most microarray assays are labour-intensive and time-consuming to perform. This study describes the development and initial evaluation of a multiplex reverse transcription (RT)-PCR and novel accompanying automated electronic microarray assay for simultaneous detection and differentiation of seven important viruses that affect swine (foot-and-mouth disease virus [FMDV], swine vesicular disease virus [SVDV], vesicular exanthema of swine virus [VESV], African swine fever virus [ASFV], classical swine fever virus [CSFV], porcine respiratory and reproductive syndrome virus [PRRSV] and porcine circovirus type 2 [PCV2])...
November 30, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29194773/plasma-il-8-signature-correlates-with-pain-and-depressive-symptomatology-in-patients-with-burning-mouth-syndrome-results-from-a-pilot-study
#16
Alison Barry, Ken D O'Halloran, Joseph P McKenna, Christine McCreary, Eric J Downer
BACKGROUND: Burning mouth syndrome (BMS) is a neuropathic orofacial pain condition of unknown aetiology that encompasses intra-oral burning pain without abnormal clinical findings. Psychological, neural and inflammatory processes are associated with BMS pathogenesis. Currently, studies characterising plasma cytokine/chemokine profiles with pain and depression in BMS patients are lacking. Considering that inflammation is associated with the pathophysiology of BMS, and that inflammation is closely associated with pain and depression, we aimed to correlate depressive symptomatology and oral cavity pain with plasma cytokine/chemokine signatures in a cohort of patients with BMS...
December 1, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29193673/ophthalmic-features-of-cone-rod-dystrophy-caused-by-pathogenic-variants-in-the-alms1-gene
#17
Fadi Nasser, Nicole Weisschuh, Pietro Maffei, Gabriella Milan, Corina Heller, Eberhart Zrenner, Susanne Kohl, Laura Kuehlewein
PURPOSE: We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone-rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene. METHODS: Seven patients with Alström syndrome (ALMS) were included in the study. A comprehensive ophthalmological examination was performed, including best-corrected visual acuity (BCVA), a semiautomated kinetic visual field exam, colour vision testing, full-field electroretinography testing according to International Society for Clinical Electrophysiology of Vision (ISCEV) standards, spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging, and slit lamp and dilated fundus examination...
November 30, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29193359/consensus-statement-on-the-classification-of-tremors-from-the-task-force-on-tremor-of-the-international-parkinson-and-movement-disorder-society
#18
Kailash P Bhatia, Peter Bain, Nin Bajaj, Rodger J Elble, Mark Hallett, Elan D Louis, Jan Raethjen, Maria Stamelou, Claudia M Testa, Guenther Deuschl
BACKGROUND: Consensus criteria for classifying tremor disorders were published by the International Parkinson and Movement Disorder Society in 1998. Subsequent advances with regard to essential tremor, tremor associated with dystonia, and other monosymptomatic and indeterminate tremors make a significant revision necessary. OBJECTIVES: Convene an international panel of experienced investigators to review the definition and classification of tremor. METHODS: Computerized MEDLINE searches in January 2013 and 2015 were conducted using a combination of text words and MeSH terms: "tremor", "tremor disorders", "essential tremor", "dystonic tremor", and "classification" limited to human studies...
November 30, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29192418/novel-biomarkers-of-overactive-bladder-syndrome
#19
Andrzej Franciszek Wróbel, Tomasz Kluz, Grzegorz Surkont, Edyta Wlaźlak, Paweł Skorupski, Aleksandra Filipczak, Tomasz Rechberger
The social aspect of overactive bladder syndrome (OAB) and the lack of objective diagnostic methods for this syndrome have spurred research into its potential biomarkers which can constitute useful diagnostic tools, while also allowing the evaluation of the intensity of clinical symptoms and the efficacy of implemented pharmacotherapy in OAB patients. Due to the complex etiopathogenesis of this syndrome, the researchers are seeking biomarkers connected with inflammation or nerve growth. The aim of this review was to analyse the latest literature data regarding potential biomarkers in OAB...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/29191731/characteristic-morphologies-of-the-bicuspid-aortic-valve-in-patients-with-genetic-syndromes
#20
Talha Niaz, Joseph T Poterucha, Timothy M Olson, Jonathan N Johnson, Cecilia Craviari, Thomas Nienaber, Jared Palfreeman, Frank Cetta, Donald J Hagler
BACKGROUND: In patients with bicuspid aortic valve (BAV), complications including progressive aortic stenosis and aortic dilatation develop over time. The morphology of cusp fusion is one of the determinants of the type and severity of these complications. We present the association of morphology of cusp fusion in BAV patients with distinctive genetic syndromes. METHODS: The Mayo Clinic echocardiography database was retrospectively reviewed to identify patients (age ≤ 22 years) diagnosed with BAV from 1990 to 2016...
November 28, 2017: Journal of the American Society of Echocardiography
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