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https://www.readbyqxmd.com/read/28728290/-advances-in-research-of-divergence-insufficiency
#1
Y P Li, W Zhang
Divergence insufficiency is acquired esotropia at distance fixation with symptomatic uncrossed diplopia but fusion at near. It can be divided into two forms: primary isolated form and secondary form associated with neurologic abnormalities, also called divergence palsy. The clinical features of divergence insufficiency include small esotropia only at distance but orthotropia or small esophoria at near, comitant deviation at lateral gaze, reduced divergence fusion, full abduction and normal saccadic velocities in abduction...
July 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28727732/incidence-of-thromboembolic-events-in-asymptomatic-carriers-of-iga-anti-%C3%A3-2-glycoprotein-i-antibodies
#2
Carlos Tortosa, Oscar Cabrera-Marante, Manuel Serrano, José A Martínez-Flores, Dolores Pérez, David Lora, Luis Morillas, Estela Paz-Artal, José M Morales, Daniel Pleguezuelo, Antonio Serrano
BACKGROUND: The antiphospholipid syndrome (APS) is defined by simultaneous presence of vascular clinical events and antiphospholipid antibodies (aPL). The aPL considered as diagnostics are lupus anticoagulant and antibodies anticardiolipin (aCL) and anti-ß2 glycoprotein-I (aB2GP1). During recent years, IgA aB2GP1 antibodies have been associated with thrombotic events both in patients positive, and mainly negative for other aPL, however its value as a pro-thrombotic risk-factor in asymptomatic patients has not been well defined...
2017: PloS One
https://www.readbyqxmd.com/read/28726805/prepl-deficiency-delineation-of-the-phenotype-and-development-of-a-functional-blood-assay
#3
Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A Jeannette M Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik-Jan Kamsteeg, John W M Creemers
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28725562/pleural-empyema-and-streptococcal-toxic-shock-syndrome-due-to-streptococcus-pyogenes-in-a-healthy-spanish-traveler-in-japan
#4
Tetsuya Sakai, Daisuke Taniyama, Saeko Takahashi, Morio Nakamura, Takashi Takahashi
Group A Streptococcus (GAS, Streptococcus pyogenes) causes invasive infections including streptococcal toxic shock syndrome (STSS) and local infections. To our knowledge, this is the first report of a case of an invasive GAS infection with pneumonia and pleural empyema (PE) followed by STSS (disseminated intravascular coagulation [DIC] and acute renal insufficiency) in a healthy male adult. He received combined supportive therapies of PE drainage, anti-DIC agent, hemodialysis, and antimicrobials and eventually made a clinical recovery...
2017: IDCases
https://www.readbyqxmd.com/read/28725320/splice-site-variants-in-the-kcnq1-and-scn5a-genes-transcript-analysis-as-a-tool-in-supporting-pathogenicity
#5
Ivone U S Leong, Philippa A Dryland, Debra O Prosser, Stella W-S Lai, Mandy Graham, Martin Stiles, Jackie Crawford, Jonathan R Skinner, Donald R Love
BACKGROUND: Approximately 75% of clinically definite long QT syndrome (LQTS) cases are caused by mutations in the KCNQ1, KCNH2 and SCN5A genes. Of these mutations, a small proportion (3.2-9.2%) are predicted to affect splicing. These mutations present a particular challenge in ascribing pathogenicity. METHODS: Here we report an analysis of the transcriptional consequences of two mutations, one in the KCNQ1 gene (c.781_782delinsTC) and one in the SCN5A gene (c.2437-5C>A), which are predicted to affect splicing...
August 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28722623/the-use-of-xenosurveillance-to-detect-human-bacteria-parasites-and-viruses-in-mosquito-bloodmeals
#6
Joseph R Fauver, Alex Gendernalik, James Weger-Lucarelli, Nathan D Grubaugh, Doug E Brackney, Brian D Foy, Gregory D Ebel
Infectious disease surveillance is hindered by several factors, including limited infrastructure and geographic isolation of many resource-poor regions. In addition, the complexities of sample acquisition, processing, and analysis, even in developed regions, can be rate limiting. Therefore, new strategies to survey human populations for emerging pathogens are necessary. Xenosurveillance is a method that utilizes mosquitoes as sampling devices to search for genetic signatures of pathogens in vertebrates. Previously we demonstrated that xenosurveillance can detect viral RNA in both laboratory and field settings...
May 30, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28720156/fmr1-cgg-repeat-expansion-mutation-detection-and-linked-haplotype-analysis-for-reliable-and-accurate-preimplantation-genetic-diagnosis-of-fragile-x-syndrome
#7
Indhu-Shree Rajan-Babu, Mulias Lian, Felicia S H Cheah, Min Chen, Arnold S C Tan, Ethiraj B Prasath, Seong Feei Loh, Samuel S Chong
Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification...
July 19, 2017: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/28716286/neurosarcoidosis-according-to-zajicek-and-scolding-criteria-15-probable-and-definite-cases-their-treatment-and-outcomes
#8
Gonçalo Cação, Ana Branco, Mariana Meireles, José Eduardo Alves, Andrea Mateus, Ana Martins Silva, Ernestina Santos
INTRODUCTION: Neurosarcoidosis occurs in about 5% to 15% of patients with sarcoidosis. The purpose of this study was to identify and characterize a cohort of neurosarcoidosis patients and to review the largest previously reported neurosarcoidosis case series. METHODS: This retrospective study enrolled all patients with the diagnosis of probable or definitive neurosarcoidosis according to Zajicek and Scolding criteria, followed at the neurology department of a tertiary center in Portugal from January 1989 to December 2015...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28716249/high-risk-of-early-conversion-to-multiple-sclerosis-in-clinically-isolated-syndromes-with-dissemination-in-space-at-baseline
#9
Lorenzo Gaetani, Fulvia Fanelli, Ilenia Riccucci, Paolo Eusebi, Paola Sarchielli, Carlo Pozzilli, Paolo Calabresi, Luca Prosperini, Massimiliano Di Filippo
INTRODUCTION: Multiple sclerosis (MS) usually presents at onset with a clinically isolated syndrome (CIS). According to 2010 McDonald criteria, a diagnosis of MS can be made if CIS patients satisfy clinical/MRI criteria of both dissemination in time (DIT) and space (DIS). OBJECTIVE: The aim of this study was to analyze the follow-up data and possible prognostic factors of CIS patients satisfying DIS MRI criteria. PATIENTS AND METHODS: We performed a retrospective, multicenter study across 2 Italian centers...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28715672/genomic-and-pathogenic-analysis-of-a-muscovy-duck-parvovirus-strain-causing-short-beak-and-dwarfism-syndrome-without-tongue-protrusion
#10
Qiuling Fu, Yu Huang, Chunhe Wan, Guanghua Fu, Baomin Qi, Longfei Cheng, Shaohua Shi, Hongmei Chen, Rongchang Liu, Zhenhai Chen
In 2008, clinical cases of short beak and dwarfism syndrome (SBDS) caused by Muscovy duck parvovirus (MDPV) infection were found in mule duck and Taiwan white duck farms in Fujian, China. A MDPV LH strain causing duck SBDS without tongue protrusion was isolated in this study. Phylogenetic analysis show that the MDPV LH strain was clustered together with other MDPV strains, but divergent from GPV isolates. Two major fragment deletions were found in the inverted terminal repeats (ITR) of MDPV LH similar to the ones in the ITR of MDPV GX5, YY and SAAS-SHNH strains...
July 12, 2017: Research in Veterinary Science
https://www.readbyqxmd.com/read/28713377/th1-and-th17-cells-and-associated-cytokines-discriminate-among-clinically-isolated-syndrome-and-multiple-sclerosis-phenotypes
#11
Gabriel Arellano, Eric Acuña, Lilian I Reyes, Payton A Ottum, Patrizia De Sarno, Luis Villarroel, Ethel Ciampi, Reinaldo Uribe-San Martín, Claudia Cárcamo, Rodrigo Naves
Multiple sclerosis (MS) is a chronic, inflammatory, and demyelinating disease of the central nervous system. It is a heterogeneous pathology that can follow different clinical courses, and the mechanisms that underlie the progression of the immune response across MS subtypes remain incompletely understood. Here, we aimed to determine differences in the immunological status among different MS clinical subtypes. Blood samples from untreated patients diagnosed with clinically isolated syndrome (CIS) (n = 21), different clinical forms of MS (n = 62) [relapsing-remitting (RRMS), secondary progressive, and primary progressive], and healthy controls (HCs) (n = 17) were tested for plasma levels of interferon (IFN)-γ, IL-10, TGF-β, IL-17A, and IL-17F by immunoanalysis...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28705427/invasive-disease-by-streptococcus-pyogenes-patients-hospitalized-for-6-years
#12
Vanessa Arias-Constantí, Victoria Trenchs-Sainz de la Maza, Nuria Elvira Sanz-Marcos, Carmina Guitart-Pardellans, Amadeu Gené-Giralt, Carles Luaces-Cubells
INTRODUCTION AND OBJECTIVE: The last years an increase of severe cases of invasive disease (ID) due to Streptococcus pyogenes or streptococcus b-hemolytic group A (SGA) had been detected. The aim of this study was to analyze the epidemiology and the clinical features of ID due to SGA in a tertiary Pediatric Hospital. MATERIAL AND METHODS: Retrospective study in a Pediatric hospital, of all in-patients with final diagnosis of ID due to SGA during 6 years (2009-2014)...
July 10, 2017: Enfermedades Infecciosas y Microbiología Clínica
https://www.readbyqxmd.com/read/28704709/protective-role-of-surface-toll-like-receptor-9-expressing-neutrophils-in-local-inflammation-during-systemic-inflammatory-response-syndrome-in-mice
#13
Xiuping Meng, Wei Sun, Yunjia Ren, Yue Xiao, Peiyan Zhao, Wenting Lu, Li Hua, Luowei Wang, Liying Wang, Yongli Yu
Clinically, systemic inflammatory response syndrome (SIRS) occurs after serious trauma or sepsis. In sepsis, neutrophils are the major effector cells responsible for eliminating pathogens. However, the role of neutrophils in development of SIRS, especially in local inflammatory area, is controversial. In this study, we established a SIRS mouse model characterized with cytokine-mediated lethal shock by intraperitoneal injection of oligodexynucleotides containing CpG motifs (CpG ODN) in D-galactosamine (D-GalN) sensitized mice based on our previous work and found that abundant neutrophils were rapidly recruited into the peritoneal cavity, where some neutrophils expressed surface TLR9 (sTLR9), defined as sTLR9(+) neutrophils...
July 10, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28701955/therapeutic-properties-of-bioactive-compounds-from-different-honeybee-products
#14
REVIEW
Laura Cornara, Marco Biagi, Jianbo Xiao, Bruno Burlando
Honeybees produce honey, royal jelly, propolis, bee venom, bee pollen, and beeswax, which potentially benefit to humans due to the bioactives in them. Clinical standardization of these products is hindered by chemical variability depending on honeybee and botanical sources, but different molecules have been isolated and pharmacologically characterized. Major honey bioactives include phenolics, methylglyoxal, royal jelly proteins (MRJPs), and oligosaccharides. In royal jelly there are antimicrobial jelleins and royalisin peptides, MRJPs, and hydroxy-decenoic acid derivatives, notably 10-hydroxy-2-decenoic acid (10-HDA), with antimicrobial, anti-inflammatory, immunomodulatory, neuromodulatory, metabolic syndrome preventing, and anti-aging activities...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28701499/breastfeeding-ovulatory-years-and-risk-of-multiple-sclerosis
#15
Annette Langer-Gould, Jessica B Smith, Kerstin Hellwig, Edlin Gonzales, Samantha Haraszti, Corinna Koebnick, Anny Xiang
OBJECTIVE: To determine whether women who breastfeed their infants longer or have fewer ovulatory years are at lower risk of developing multiple sclerosis (MS). METHODS: We recruited women with newly diagnosed MS or its precursor, clinically isolated syndrome (CIS) (n = 397), and matched controls (n = 433) into the MS Sunshine Study from the membership of Kaiser Permanente Southern California. A structured in-person questionnaire was administered to collect the behavioral (pregnancies, breastfeeding, hormonal contraceptive use) and biological (age at menarche and menopause, amenorrhea) factors to make up ovulatory years...
July 12, 2017: Neurology
https://www.readbyqxmd.com/read/28700432/novel-fumarate-hydratase-mutation-in-siblings-with-early-onset-uterine-leiomyomas-and-hereditary-leiomyomatosis-and-renal-cell-cancer-syndrome
#16
Vinay Gunnala, Nigel Pereira, Mohamad Irani, Debra Lilienthal, Edyta C Pirog, Robert Soslow, Thomas A Caputo, Rony Elias, Isaac Kligman, Zev Rosenwaks
Hereditary leiomyomatosis renal cell cancer syndrome is an autosomal dominant disorder characterized by uterine and cutaneous leiomyomas and increased predisposition to renal cell carcinoma, papillary type II. The syndrome is caused by heterozygous mutations to the fumarate hydratase (FH) gene located on chromosome 1. Affected females generally present with early onset, atypical uterine leiomyomas and cutaneous findings, however, delays in diagnosis are very common in patients with isolated uterine findings...
July 11, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28700427/a-patient-with-a-low-grade-mucinous-neoplasm-involving-the-ovary-and-pseudomyxoma-peritonei-originating-in-an-isolated-intestinal-duplication
#17
Michiel Simons, Inge Ebisch, Joanne de Hullu, Maaike van Ham, Marc Snijders, Ineke de Kievit, Johan Bulten
A considerable number of mucinous ovarian tumors are metastatic from other primary tumors, mainly from the gastrointestinal tract, and primary mucinous ovarian tumors are considered rare. Mucinous ovarian tumors occurring within the clinical syndrome of pseudomyxoma peritonei are assumed to nearly always originate from the appendix. We describe a patient with a low-grade mucinous tumor involving the ovary in coexistence with pseudomyxoma peritonei, who underwent appendectomy 25 yr earlier. The tumor originated from a rare cystic gastrointestinal duplication found in the mesenteric fat showing adenomatous changes...
July 11, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28694781/amelogenesis-imperfecta-genes-proteins-and-pathways
#18
REVIEW
Claire E L Smith, James A Poulter, Agne Antanaviciute, Jennifer Kirkham, Steven J Brookes, Chris F Inglehearn, Alan J Mighell
Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft, fragile, pitted and/or badly discolored, with poor function and aesthetics, causing patients problems such as early tooth loss, severe embarrassment, eating difficulties, and pain. It was first described separately from diseases of dentine nearly 80 years ago, but the underlying genetic and mechanistic basis of the condition is only now coming to light...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28692175/neurosonology-accuracy-for-isolated-acute-vestibular-syndromes
#19
Miguel Tábuas-Pereira, João Sargento-Freitas, Luís Isidoro, Fernando Silva, Orlando Galego, César Nunes, Gustavo Cordeiro, Luís Cunha
OBJECTIVES: The clinical approach to acute vestibular syndromes is often complex for the physician. Neurosonology offers a noninvasive method to study the cervicocephalic circulation when a vascular etiology is suspected. We aim to evaluate the diagnostic accuracy of a vascular neurosonological exam in isolated acute vestibular syndrome. METHODS: All patients submitted to cerebrovascular ultrasound and magnetic resonance imaging during the period between 2011 and 2015 with acute isolated vestibular syndrome...
July 10, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28690849/altered-regulatory-t-cell-fractions-and-helios-expression-in-clinically-isolated-syndrome-clues-to-the-development-of-multiple-sclerosis
#20
Anderson P Jones, Stephanie Trend, Scott N Byrne, Marzena J Fabis-Pedrini, Sian Geldenhuys, David Nolan, David R Booth, William M Carroll, Robyn M Lucas, Allan G Kermode, Prue H Hart
Development of multiple sclerosis (MS) is frequently preceded by an acute or subacute neurological disturbance referred to as clinically isolated syndrome (CIS). The specific immunological disturbances present in CIS remain underexamined. This study analysed peripheral blood mononuclear cells from n=18 treatment-naive individuals with recently diagnosed CIS (<120 days) for disturbances in the phenotype of T regulatory (Treg), follicular T regulatory (Tfr), T helper (Th), follicular T helper (Tfh) and B cells...
May 2017: Clinical & Translational Immunology
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