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Clinically isolated syndrome

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https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#1
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28818149/cerebellar-infarction-presenting-with-acute-vestibular-syndrome-in-two-u-s-air-force-pilots
#2
Roger R Hesselbrock
BACKGROUND: Cerebellar infarction is an uncommon but serious cause of isolated acute vestibular symptoms, particularly in young, healthy individuals, and can easily be overlooked. We present two cases of cerebellar infarction in U.S. Air Force pilots, one of which occurred during flight. CASE REPORTS: A 41-yr-old man developed acute vertigo, disequilibrium, nausea, and headache, with progressive slow symptomatic improvement, and presented to medical attention 4 d after symptom onset...
September 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28815877/new-intragenic-rearrangements-in-non-finnish-mulibrey-nanism
#3
Florence Jobic, Gilles Morin, Catherine Vincent-Delorme, Estelle Cadet, Rosalie Cabry, Michèle Mathieu-Dramard, Henri Copin, Jacques Rochette, Guillaume Jedraszak
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre- and post-natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps with others such as the Silver-Russell syndrome. We report here three patients in two distinct non-Finnish families from North France who were first suspected to have Silver-Russell syndrome which failed to be confirmed on molecular analyses...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815558/sequence-variants-in-esr1-and-oxtr-are-associated-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#4
Sara Yvonne Brucker, Liliane Frank, Simone Eisenbeis, Melanie Henes, Diethelm Wallwiener, Olaf Riess, Barbara Van Eijck, Dorit Schöller, Michael Bonin, Kristin Katharina Rall
INTRODUCTION: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by congenital absence of the uterus and the upper two-thirds of the vagina in otherwise phenotypically normal females. It is found isolated or associated with renal, skeletal and other malformations. Despite of ongoing research, the etiology is mainly unknown. For a long time, the hypothesis of deficient hormone receptors as cause for MRKHS exists, and is supported by previous findings of our group. The aim of the present study was to identify unknown genetic causes for MRKHS and to compare them with data banks including a review of the literature...
August 16, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28813943/conjunctive-rehabilitation-of-multiple-cognitive-domains-for-chronic-stroke-patients-in-virtual-reality
#5
Martina Maier, Nuria Leiva Banuelos, Belen Rubio Ballester, Esther Duarte, Paul F M J Verschure
Classically, cognitive deficits have been studied and treated in isolation from each other. A stroke patient is classified as being memory impaired, having executive dysfunction or showing attentional deficits after which a dedicated rehabilitation therapy is given. Studies seldom looked at the relationship between these different cognitive domains and syndromes, although, there is evidence that they might share common neuronal substrates and do not occur in isolation. Here, we propose a novel rehabilitation method in virtual reality to treat cognitive deficits in conjunction and report the preliminary results of an ongoing randomized controlled clinical trial...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28808190/cholesterol-crystal-embolization-following-plaque-rupture-a-systemic-disease-with-unusual-features
#6
Firas Ghanem, Deepthi Vodnala, Jagadeesh K Kalavakunta, Sridevi Durga, Noah Thormeier, Prem Subramaniyam, Scott Abela, George S Abela
Cholesterol crystal embolic (CCE) syndrome is often a clinically challenging condition that has a poor prognostic implication. It is a result of plaque rupture with release of cholesterol crystals into the circulation that embolize into various tissue organs. Plaque rupture seems to be triggered by an expanding necrotic core during cholesterol crystallization forming sharp tipped crystals that perforate and tear the fibrous cap. Embolizing cholesterol crystals then initiate both local and systemic inflammation that eventually lead to vascular fibrosis and obstruction causing symptoms that can mimic other vasculitic conditions...
January 19, 2017: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28807373/usefulness-of-cocaine-drops-in-investigating-infant-anisocoria
#7
Gilles C Martin, Pierre-Antoine Aymard, Charlotte Denier, Caroline Seghir, Marc Abitbol, Nathalie Boddaert, Dominique Bremond-Gignac, Matthieu P Robert
INTRODUCTION: Whereas apraclonidine has eclipsed cocaine test in the exploration of unilateral miosis in adults, its use in infants is avoided because of the risk of central nervous system depression. This chart review evaluates the usefulness of cocaine drops in infants. METHODS: Infants under the age of one referred for unilateral miosis between November 1, 2009 and November 1, 2015, were reviewed. Patients underwent the following protocol: (1) in case of isolated miosis, cocaine test was performed...
August 4, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28806282/adenovirus-infection-in-children-with-acute-myeloid-leukemia-a-report-from-the-canadian-infection-in-acute-myeloid-leukemia-research-group
#8
Samuele Renzi, Salah Ali, Carol Portwine, David Mitchell, David Dix, Victor Lewis, Victoria Price, Michelle Science, Lillian Sung
BACKGROUND: Children with acute myeloid leukemia (AML) are at high risk of life-threatening bacterial and fungal infection. However, little is known about the prevalence or severity of adenovirus infection in this population. Objective was to describe the characteristics, treatments and outcomes of adenovirus infection in children with newly diagnosed AML. METHODS: We performed a retrospective chart review based upon two multi-center cohort studies which focused on identifying risk factors for infection in children with AML...
August 10, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28802830/gfap-in-early-multiple-sclerosis-a-biomarker-for-inflammation
#9
Rebecca Kassubek, Martin Gorges, Michael Schocke, Viktoria A M Hagenston, André Huss, Albert C Ludolph, Jan Kassubek, Hayrettin Tumani
OBJECTIVE: The role of Glial Fibrillic Acidic Protein (GFAP) as a potential biomarker for relapsing-remitting multiple sclerosis (RRMS) and clinically isolated syndrome (CIS) has been controversially discussed. The aim was to characterize the added value of GFAP levels in the CSF of RRMS and CIS patients in correlation with MRI lesion load. MATERIALS & METHODS: GFAP levels in the CSF from 18 patients with RRMS, 8 patients with CIS and 35 controls were analyzed together with MRI data for acute and chronic inflammatory lesion load...
August 9, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28802362/kallmann-syndrome-in-pediatric-otorhinolaryngology-practice-case-report-and-literature-review
#10
Karolina Dżaman, Karolina Zborowska-Piskadło, Mirosława Pietniczka-Załęska, Ireneusz Kantor
BACKGROUND: Kallmann syndrome (KS) is an isolated form of hypogonadotrophic hypogonadism (HH) in combination with a defect in olfactory function. The diagnosis of KS before maturation is often difficult to make due to the broad spectrum of presentation and genetic heterogeneities. ENT examination including smell test is essential for proper diagnosis of olfactory disturbances and non olfactory abnormalities in craniofacial region which may also be existent in KS. CASE: A 17-year-old girl admitted to ENT Department because of the olfactory sense disturbances since two years...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28796005/clinical-spectrum-of-anti-jo-1-associated-disease
#11
Sara Monti, Carlomaurizio Montecucco, Lorenzo Cavagna
PURPOSE OF REVIEW: To provide the most recent evidence on anti-Jo-1 syndrome. RECENT FINDINGS: Several new evidences on anti-Jo-1 syndrome have recently emerged. It has been clearly established that, at disease onset, the classic clinical triad (arthritis, myositis and interstitial lung disease - ILD) is only rarely observed. Indeed, disease onset with an isolated arthritis is common. Patients presenting with an isolated manifestation are at high risk for the subsequent occurrence of initially lacking triad findings...
August 8, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28792528/microstructural-analyses-of-the-posterior-cerebellar-lobules-in-relapsing-onset-multiple-sclerosis-and-their-implication-in-cognitive-impairment
#12
Amandine Moroso, Aurélie Ruet, Delphine Lamargue-Hamel, Fanny Munsch, Mathilde Deloire, Pierrick Coupé, Julie Charré-Morin, Aurore Saubusse, Jean-Christophe Ouallet, Vincent Planche, Thomas Tourdias, Vincent Dousset, Bruno Brochet
BACKGROUND: The posterior cerebellar lobules seem to be the anatomical substrate of cognitive cerebellar processes, but their microstructural alterations in multiple sclerosis (MS) remain unclear. OBJECTIVES: To correlate diffusion metrics in lobules VI to VIIIb in persons with clinically isolated syndrome (PwCIS) and in cognitively impaired persons with MS (CIPwMS) with their cognitive performances. METHODS: Sixty-nine patients (37 PwCIS, 32 CIPwMS) and 36 matched healthy subjects (HS) underwent 3T magnetic resonance imaging, including 3D T1-weighted and diffusion tensor imaging (DTI)...
2017: PloS One
https://www.readbyqxmd.com/read/28791708/exosomal-dnmt1-mediates-cisplatin-resistance-in-ovarian-cancer
#13
Ya-Lei Cao, Ting Zhuang, Bao-Heng Xing, Na Li, Qin Li
Ovarian cancer is the most common malignancy in women. Owing to late syndromic presentation and lack of efficient early detection, most cases are diagnosed at advanced stages. Surgery and platinum-based chemotherapy are still the standard care currently. However, resistance invoked often compromises the clinical value of the latter. Expression of DNA methyltransferase 1 (DNMT1) was analysed by gene array. Protein was determined by immunoblotting. Exosome was isolated with commercial kit. Cell proliferation was measured by CCK8 method...
August 8, 2017: Cell Biochemistry and Function
https://www.readbyqxmd.com/read/28790548/a-giant-heart-tumor-in-neonate-with-clinical-signs-of-pierre-robin-syndrome
#14
Ramush Bejiqi, Ragip Retkoceri, Hana Xhema-Bejiqi, Rinor Bejiqi, Arlinda Maloku
INTRODUCTION: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. CASE REPORT: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28790435/emergence-of-a-streptococcus-dysgalactiae-subspecies-equisimilis-stg62647-lineage-associated-with-severe-clinical-manifestations
#15
Oddvar Oppegaard, Haima Mylvaganam, Steinar Skrede, Paul Christoffer Lindemann, Bård Reiakvam Kittang
Increasing incidence rates of invasive Streptococcus dysgalactiae subspecies equisimilis (SDSE) infections have been reported worldwide, but the evolutionary mechanisms underlying this development remain elusive. Through prospective surveillance of invasive SDSE infections in western Norway, we observed the emergence of a novel and virulent SDSE genotype, stG62647. This emm-type, rarely encountered as a cause of invasive disease during 1999-2012, emerged in 2013 as the predominant SDSE-genotype. The stG62647-infections were associated with an aggressive clinical course, including the occurrence of streptococcal toxic shock syndrome, necrotizing soft-tissue infections and endocarditis...
August 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28777826/cerebrospinal-fluid-b-cells-and-disease-progression-in-multiple-sclerosis-a-longitudinal-prospective-study
#16
Sebastian Wurth, Bettina Kuenz, Gabriel Bsteh, Rainer Ehling, Franziska Di Pauli, Harald Hegen, Michael Auer, Viktoria Gredler, Florian Deisenhammer, Markus Reindl, Thomas Berger
BACKGROUND: There is evidence that B cells play an important role in disease pathology of multiple sclerosis (MS). The aim of this prospective observational study was to determine the predictive value of cerebrospinal fluid (CSF) B cell subtypes in disease evolution of patients with MS. MATERIALS AND METHODS: 128 patients were included between 2004 and 2012. Median follow up time was 7.9 years (range 3.3-10.8 years). 10 patients were lost to follow-up. 32 clinically isolated syndrome- (CIS), 25 relapsing remitting MS- (RRMS), 2 secondary progressive MS- (SPMS) and 9 primary progressive MS- (PPMS) patients were included...
2017: PloS One
https://www.readbyqxmd.com/read/28777321/prevalence-and-genetic-characteristics-of-staphylococcus-aureus-and-staphylococcus-argenteus-isolates-harboring-panton-valentine-leukocidin-enterotoxins-and-tsst-1-genes-from-food-handlers-in-myanmar
#17
Meiji Soe Aung, Thida San, Mya Mya Aye, San Mya, Win Win Maw, Khin Nyein Zan, Wut Hmone Win Htut, Mitsuyo Kawaguchiya, Noriko Urushibara, Nobumichi Kobayashi
Asymptomatic carriers of toxigenic Staphylococcus aureus are potential source of diseases, including food poisoning. Toxigenic potential and genetic traits of colonizing S. aureus were investigated for 563 healthy food handlers in Myanmar. Carriage of S. aureus was found in 110 individuals (19.5%), and a total of 144 S. aureus isolates were recovered from nasal cavities (110 isolates) and hands (34 isolates). Panton-Valentine leucocidin genes (pvl) were detected in 18 isolates (12.5%), among which 11 isolates were classified into coa-VIa, agr type III, and ST1930 (CC96) that had been also detected in pvl-positive clinical isolates in Myanmar...
August 4, 2017: Toxins
https://www.readbyqxmd.com/read/28776170/viridans-group-streptococci-bloodstream-infections-in-neutropenic-adult-patients-with-hematologic-malignancy-single-center-experience
#18
J Radocha, P Paterová, A Zavřelová, B Víšek, F Gabalec, H Žemličková, P Žák
Viridans group streptococci bloodstream infections (VGS BSI) remain a significant cause of mortality and morbidity in patients with severe neutropenia. The goal of our study was to evaluate clinical course and microbiological susceptibility of VGS BSI at our center. Retrospective analysis of all microbiologically documented bloodstream infections caused by VGS during the 9-year time period (from January 2006 until December 2014) was carried out. Only patients with severe neutropenia (< 500/μL) were included in the study...
August 3, 2017: Folia Microbiologica
https://www.readbyqxmd.com/read/28769806/a-red-blood-cell-membrane-camouflaged-nanoparticle-counteracts-streptolysin-o-mediated-virulence-phenotypes-of-invasive-group-a-streptococcus
#19
Tamara Escajadillo, Joshua Olson, Brian T Luk, Liangfang Zhang, Victor Nizet
Group A Streptococcus (GAS), an important human-specific Gram-positive bacterial pathogen, is associated with a broad spectrum of disease, ranging from mild superficial infections such as pharyngitis and impetigo, to serious invasive infections including necrotizing fasciitis and streptococcal toxic shock syndrome. The GAS pore-forming streptolysin O (SLO) is a well characterized virulence factor produced by nearly all GAS clinical isolates. High level expression of SLO is epidemiologically linked to intercontinental dissemination of hypervirulent clonotypes and poor clinical outcomes...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28768844/prognostic-relevance-of-mog-antibodies-in-children-with-an-acquired-demyelinating-syndrome
#20
Eva-Maria Hennes, Matthias Baumann, Kathrin Schanda, Banu Anlar, Barbara Bajer-Kornek, Astrid Blaschek, Sigrid Brantner-Inthaler, Katharina Diepold, Astrid Eisenkölbl, Thaddäus Gotwald, Georgi Kuchukhidze, Ursula Gruber-Sedlmayr, Martin Häusler, Romana Höftberger, Michael Karenfort, Andrea Klein, Johannes Koch, Verena Kraus, Christian Lechner, Steffen Leiz, Frank Leypoldt, Simone Mader, Klaus Marquard, Imke Poggenburg, Daniela Pohl, Martin Pritsch, Markus Raucherzauner, Mareike Schimmel, Charlotte Thiels, Daniel Tibussek, Silvia Vieker, Carolin Zeches, Thomas Berger, Markus Reindl, Kevin Rostásy
OBJECTIVE: To assess the prognostic value of MOG antibodies (abs) in the differential diagnosis of acquired demyelinating syndromes (ADS). METHODS: Clinical course, MRI, MOG-abs, AQP4-abs, and CSF cells and oligoclonal bands (OCB) in children with ADS and 24 months of follow-up were reviewed in this observational prospective multicenter hospital-based study. RESULTS: Two hundred ten children with ADS were included and diagnosed with acute disseminated encephalomyelitis (ADEM) (n = 60), neuromyelitis optica spectrum disorder (NMOSD) (n = 12), clinically isolated syndrome (CIS) (n = 101), and multiple sclerosis (MS) (n = 37) after the first episode...
August 2, 2017: Neurology
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