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Clinically isolated syndrome

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https://www.readbyqxmd.com/read/29452342/neurofilament-light-chain-and-oligoclonal-bands-are-prognostic-biomarkers-in-radiologically-isolated-syndrome
#1
Clara Matute-Blanch, Luisa M Villar, José C Álvarez-Cermeño, Konrad Rejdak, Evgeniy Evdoshenko, Gleb Makshakov, Vladimir Nazarov, Sergey Lapin, Luciana Midaglia, Angela Vidal-Jordana, Jelena Drulovic, Antonio García-Merino, Antonio J Sánchez-López, Eva Havrdova, Albert Saiz, Sara Llufriu, Roberto Alvarez-Lafuente, Ina Schroeder, Uwe K Zettl, Daniela Galimberti, Lluís Ramió-Torrentà, René Robles, Ester Quintana, Harald Hegen, Florian Deisenhammer, Jordi Río, Mar Tintoré, Alex Sánchez, Xavier Montalban, Manuel Comabella
The prognostic role of cerebrospinal fluid molecular biomarkers determined in early pathogenic stages of multiple sclerosis has yet to be defined. In the present study, we aimed to investigate the prognostic value of chitinase 3 like 1 (CHI3L1), neurofilament light chain, and oligoclonal bands for conversion to clinically isolated syndrome and to multiple sclerosis in 75 patients with radiologically isolated syndrome. Cerebrospinal fluid levels of CHI3L1 and neurofilament light chain were measured by enzyme-linked immunosorbent assay...
February 14, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29450569/pharmacogenomics-in-diabetes-outcomes-of-thiamine-therapy-in-trma-syndrome
#2
Abdelhadi M Habeb, Sarah E Flanagan, Mohamed A Zulali, Mohamed A Abdullah, Renata Pomahačová, Veselin Boyadzhiev, Lesby E Colindres, Guillermo V Godoy, Thiruvengadam Vasanthi, Ramlah Al Saif, Aria Setoodeh, Amirreza Haghighi, Alireza Haghighi, Yomna Shaalan, Andrew T Hattersley, Sian Ellard, Elisa De Franco
AIMS/HYPOTHESIS: Diabetes is one of the cardinal features of thiamine-responsive megaloblastic anaemia (TRMA) syndrome. Current knowledge of this rare monogenic diabetes subtype is limited. We investigated the genotype, phenotype and response to thiamine (vitamin B 1 ) in a cohort of individuals with TRMA-related diabetes. METHODS: We studied 32 individuals with biallelic SLC19A2 mutations identified by Sanger or next generation sequencing. Clinical details were collected through a follow-up questionnaire...
February 15, 2018: Diabetologia
https://www.readbyqxmd.com/read/29449689/current-and-emerging-therapies-for-pnets-in-patients-with-or-without-men1
#3
REVIEW
Morten Frost, Kate E Lines, Rajesh V Thakker
Pancreatic neuroendocrine tumours (PNETs) might occur as a non-familial isolated endocrinopathy or as part of a complex hereditary syndrome, such as multiple endocrine neoplasia type 1 (MEN1). MEN1 is an autosomal dominant disorder characterized by the combined occurrence of PNETs with tumours of the parathyroids and anterior pituitary. Treatments for primary PNETs include surgery. Treatments for non-resectable PNETs and metastases include biotherapy (for example, somatostatin analogues, inhibitors of receptors and monoclonal antibodies), chemotherapy and radiological therapy...
February 16, 2018: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/29448007/dysfunction-of-cd3-cd16-cd56-dim-and-cd3-cd16-cd56-bright-nk-cell-subsets-in-rr-ms-patients
#4
Ilhan Tahrali, Umut Can Kucuksezer, Ayse Altintas, Ugur Uygunoglu, Nilgun Akdeniz, Esin Aktas Cetin, Gunnur Deniz
Multiple sclerosis (MS), is a chronic inflammatory disease of central nervous system with unclear etiology. Relapsing-remitting (RR)-MS is the most frequent subtype of disease. Natural Killer (NK) cells have roles in cytotoxicity and immune regulation by cytokine secretions, with uncertain contribution to MS pathogenesis. This study aimed to explore contribution of NK cells to MS pathogenesis. Percentages of CD3 - CD16 + CD56 + total NK cells, CD3 - CD16 + CD56 dim and CD3 - CD16 - CD56 bright NK cell subsets, NK cytotoxicity and intracellular IFN-γ, IL-10 and IL-22 levels were investigated in patients with RR-MS and clinically isolated syndrome (CIS) as well as healthy subjects...
February 12, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29445837/alkaline-phosphatases-in-the-complex-chronic-kidney-disease-mineral-and-bone-disorders
#5
Jordi Bover, Pablo Ureña, Armando Aguilar, Sandro Mazzaferro, Silvia Benito, Víctor López-Báez, Alejandra Ramos, Iara daSilva, Mario Cozzolino
Alkaline phosphatases (APs) remove the phosphate (dephosphorylation) needed in multiple metabolic processes (from many molecules such as proteins, nucleotides, or pyrophosphate). Therefore, APs are important for bone mineralization but paradoxically they can also be deleterious for other processes, such as vascular calcification and the increasingly known cross-talk between bone and vessels. A proper balance between beneficial and harmful activities is further complicated in the context of chronic kidney disease (CKD)...
February 14, 2018: Calcified Tissue International
https://www.readbyqxmd.com/read/29442252/survey-of-staphylococcus-aureus-in-a-general-pediatric-population-and-focus-on-isolates-with-three-clinically-relevant-toxin-encoding-genes
#6
Anne Filleron, Sarah Beauregard-Birba, Thibault Mura, Fabien Aujoulat, Anne Laure Michon, Michel Rodière, Tu Anh Tran, Eric Jeziorski, Hélène Marchandin
BACKGROUND: In children, surveys on Staphylococcus aureus have focused on specific infections, situations or strains but no study has so far given an overview on S. aureus isolation without any selection. Here, we describe the overall bacteriological and clinical characteristics of S. aureus isolation in children, with a special focus on isolates harbouring tst, sea, and/or luk-PV genes, respectively, encoding the three clinically relevant toxins: toxic shock syndrome toxin-1, enterotoxin A and Panton-Valentine leukocidin...
February 13, 2018: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/29440323/the-evolving-mechanisms-of-action-of-glatiramer-acetate
#7
Thomas Prod'homme, Scott S Zamvil
Glatiramer acetate (GA) is a synthetic amino acid copolymer that is approved for treatment of relapsing remitting multiple sclerosis (RRMS) and clinically isolated syndrome (CIS). GA reduces multiple sclerosis (MS) disease activity and has shown comparable efficacy with high-dose interferon-β. The mechanism of action (MOA) of GA has long been an enigma. Originally, it was recognized that GA treatment promoted expansion of GA-reactive T-helper 2 and regulatory T cells, and induced the release of neurotrophic factors...
February 12, 2018: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/29439125/evaluation-of-leptomeningeal-contrast-enhancement-using-pre-and-postcontrast-subtraction-3d-flair-imaging-in-multiple-sclerosis
#8
R Zivadinov, D P Ramasamy, J Hagemeier, C Kolb, N Bergsland, F Schweser, M G Dwyer, B Weinstock-Guttman, D Hojnacki
BACKGROUND AND PURPOSE: Leptomeningeal contrast enhancement is found in patients with multiple sclerosis, though reported rates have varied. The use of 3D-fluid-attenuated inversion recovery pre- and postcontrast subtraction imaging may more accurately determine the frequency of leptomeningeal contrast enhancement. The purpose of this study was to investigate the frequency of leptomeningeal contrast enhancement using the pre- and postcontrast subtraction approach and to evaluate 3 different methods of assessing the presence of leptomeningeal contrast enhancement...
February 8, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29438170/diffuse-idiopathic-pulmonary-neuroendocrine-cell-hyperplasia-dipnech-syndrome-and-carcinoid-tumors-with-without-nech-a-clinicopathologic-radiologic-and-immunomolecular-comparison-study
#9
Maria Cecilia Mengoli, Giulio Rossi, Alberto Cavazza, Renato Franco, Federica Zito Marino, Mario Migaldi, Letizia Gnetti, Enrico Maria Silini, Luca Ampollini, Marcello Tiseo, Filippo Lococo, Ludovic Fournel, Paolo Spagnolo, Vincent Cottin, Thomas V Colby
The diagnostic criteria of diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) are not well defined, and DIPNECH can be mistaken for carcinoids associated with neuroendocrine cell hyperplasia (NECH). In this study, we compared clinical, radiologic, histologic, immunohistochemical, and molecular features of DIPNECH and isolated carcinoids with/without NECH. The study population included 151 cases (77 female patients and 74 male patients), 19 with DIPNECH and 132 with carcinoids with/without NECH...
February 12, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29436111/a-biallelic-antxr1-variant-expands-the-anthrax-toxin-receptor-associated-phenotype-to-tooth-agenesis
#10
Nuriye Dinckan, Renqian Du, Zeynep C Akdemir, Yavuz Bayram, Shalini N Jhangiani, Harsha Doddapaneni, Jianhong Hu, Donna M Muzny, Yeliz Guven, Oya Aktoren, Hulya Kayserili, Eric Boerwinkle, Richard A Gibbs, Jennifer E Posey, James R Lupski, Zehra O Uyguner, Ariadne Letra
Tooth development is regulated by multiple genetic pathways, which ultimately drive the complex interactions between the oral epithelium and mesenchyme. Disruptions at any time point during this process may lead to failure of tooth development, also known as tooth agenesis (TA). TA is a common craniofacial abnormality in humans and represents the failure to develop one or more permanent teeth. Many genes and potentially subtle variants in these genes contribute to the TA phenotype. We report the clinical and genetic impact of a rare homozygous ANTXR1 variant (c...
February 13, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29435930/quantum-language-of-microrna-application-for-new-cancer-therapeutic-targets
#11
Yoichi Robertus Fujii
MicroRNA (miRNA) is the noncoding gene: therefore, the miRNA gene inheritably controls protein gene expression through transcriptional and post-transcriptional levels. Aberrant expression of miRNA genes causes various human diseases, especially cancers. Although cancer is a complex disease, cancer/miRNA implication has yet been grasped from the perspective of miRNA profile in bed side. Since miRNA is the mobile genetic element, the clinical verification of miRNA in microvesicle of blood is too much straggle to predict potential cancer/miRNA associations without bioinformatical computing...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29430994/aortic-arch-anomalies-detected-in-foetal-life-by-echocardiography
#12
Funda Oztunc, Sezen Ugan Atik, Reyhan Dedeoglu, Mehmet Aytac Yuksel, Rıza Madazlı
Aortic arch anomalies refer to congenital malformations of position or branching pattern of the aortic arch. To-date, only a few small studies have documented prenatal detection of aortic arch anomalies. In this article, we share our experience in detecting aortic arch anomalies. Foetal echocardiograms, clinic and genetic histories of 33 patients who had been diagnosed with aortic arch anomaly from 2007 to 2015 were reviewed. In 15 patients, right aortic arch with mirror image branching; in 13 patients, right aortic arch with left ductus arteriosus and aberrant left subclavian artery; in three patients, left aortic arch with aberrant right subclavian artery; in one patient bilateral ductus and right aortic arch with aberrant left subclavian artery and in one patient double aortic arch were detected...
February 12, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29429571/ndufb8-mutations-cause-mitochondrial-complex-i-deficiency-in-individuals-with-leigh-like-encephalomyopathy
#13
Dorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, René G Feichtinger, Eliška Koňařiková, Elżbieta Jurkiewicz, Piotr Stawiński, Mirjana Gusic, Andreas Koller, Agnieszka Pollak, Piotr Gasperowicz, Joanna Trubicka, Elżbieta Ciara, Katarzyna Iwanicka-Pronicka, Dariusz Rokicki, Sylvain Hanein, Saskia B Wortmann, Wolfgang Sperl, Agnès Rötig, Holger Prokisch, Ewa Pronicka, Rafał Płoski, Giulia Barcia, Johannes A Mayr
Respiratory chain complex I deficiency is the most frequently identified biochemical defect in childhood mitochondrial diseases. Clinical symptoms range from fatal infantile lactic acidosis to Leigh syndrome and other encephalomyopathies or cardiomyopathies. To date, disease-causing variants in genes coding for 27 complex I subunits, including 7 mitochondrial DNA genes, and in 11 genes encoding complex I assembly factors have been reported. Here, we describe rare biallelic variants in NDUFB8 encoding a complex I accessory subunit revealed by whole-exome sequencing in two individuals from two families...
February 1, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29429115/frequency-of-enterotoxins-toxic-shock-syndrome-toxin-1-and-biofilm-formation-genes-in-staphylococcus-aureus-isolates-from-cows-with-mastitis-in-the-northeast-of-brazil
#14
F N Costa, N O Belo, E A Costa, G I Andrade, L S Pereira, I A Carvalho, R L Santos
Staphylococcus aureus is among the microorganisms more frequently associated with subclinical bovine mastitis. S. aureus may produce several virulence factors. This study aimed at determining the frequency of virulence factors such as enterotoxins, toxic shock syndrome toxin 1, and ica adhesion genes. In addition, we assessed antimicrobial drug resistance in S. aureus isolated from clinical and subclinical cases of mastitis. A total of 88 cows with clinical or subclinical mastitis were sampled, resulting in 38 S...
February 10, 2018: Tropical Animal Health and Production
https://www.readbyqxmd.com/read/29428584/the-preliminary-association-study-of-adipoq-rbp4-and-bcmo1-variants-with-polycystic-ovary-syndrome-and-with-biochemical-characteristics-in-a-cohort-of-polish-women
#15
Ewa Czeczuga-Semeniuk, Marzenna Galar, Katarzyna Jarząbek, Piotr Kozłowski, Nela A Sarosiek, Sławomir Wołczyński
PURPOSE: We aimed to elucidate the frequency of the SNPs in the ADIPOQ, RBP4 and BCMO1genes in a population of Caucasian Polish women with polycystic ovary syndrome (PCOS), and to evaluate the possible associations between these variants and the susceptibility to PCOS. Additionally, the relationship of these polymorphisms to a clinical phenotype of this syndrome, and the concentrations of adipokines, were determined. MATERIALS/METHODS: Clinical and biochemical profiles, DNA isolation and genotyping, and adipokine assays were performed in 294 PCOS women and 78 controls...
February 7, 2018: Advances in Medical Sciences
https://www.readbyqxmd.com/read/29427762/phylogenetic-analysis-of-porcine-circovirus-type-3-and-porcine-circovirus-type-2-in-china-detected-by-duplex-nanoparticle-assisted-pcr
#16
Lingling Zhang, Yakun Luo, Lin Liang, Jinxiang Li, Shangjin Cui
Porcine circovirus 2 causes different clinical syndromes resulting in a significant economic loss in the pork industry and PCV3 infection was mainly distributed in the pig herds exhibiting PDNS and reproductive failure symptoms and was widely prevalent in the swine population in several states of the USA. Subsequently, PCV3 was also detected in the Chinese pig herds in Hubei and Shandong Provinces, etc. In a screening of 265 clinical samples from Beijing, Zhejiang, Guangdong and Hebei in China for PCV2, PCV3 and co-infection of PCV2 and PCV3, 14...
February 7, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29427459/acute-amnestic-syndrome-in-isolated-bilateral-fornix-stroke
#17
Alessandro Salvalaggio, Annachiara Cagnin, Lucia Nardetto, Renzo Manara, Chiara Briani
BACKGROUND: Acute onset of amnestic syndrome may represent a challenging diagnostic issue. Besides non-vascular etiology, thalamic strokes or infarction involving several temporal lobe structures has been reported. PATIENTS: We describe three patients in whom an isolated bilateral anterior fornix infarction presented with an acute amnestic syndrome. Clinical presentation, differential diagnosis and MR images are discussed for each patient and vascular anatomy of the involved brain regions is also considered...
February 10, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29427453/intrafamiliar-clinical-variability-of-circumferential-skin-creases-kunze-type-caused-by-a-novel-heterozygous-mutation-of-n-terminal-tubb-gene
#18
M L Dentici, A Terracciano, E Bellacchio, R Capolino, A Novelli, M C Digilio, B Dallapiccola
Circumferential skin creases Kunze type (CSC-KT; OMIM 156610, 616734) is a rare disorder characterized by folding of excess skin, which leads to ringed creases, known as Michelin Tyre Baby Syndrome (MTBS). CSC-KT patients also exhibit facial dysmorphism, growth retardation, intellectual disability (ID) and multiple congenital malformation. Recently, two heterozygous mutations in TUBB gene and four mutations (both homozygous and heterozygous) in MAPRE2 gene were identified in 3 and 4 CSC-KT patients, respectively...
February 10, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29425537/-superior-vena-cava-thrombosis-or-stricture-secondary-to-implanted-central-venous-access-six-cases-of-endovascular-and-direct-surgical-treatment-in-cancer-patients
#19
J M Fichelle, V Baissas, S Salvi, J N Fabiani
Superior vena cava (SVC) stenosis or thrombosis is a well-known complication of central venous catheterization for endocavitary treatments, hemodialysis, or chemotherapy. In cancer patients, these SVC lesions are often symptomatic due to intimal damage and chemotherapy toxicity. We report our experience with six patients treated between 2007 and 2012 via an endovascular approach (n=5) or a direct surgical approach (n=1). All patients had SVC syndrome with facial edema, headache and upper limb edema. In three cases, the catheter was in place when the clinical symptoms occurred...
February 2018: Journal de Médecine Vasculaire
https://www.readbyqxmd.com/read/29422897/fowl-adenovirus-serotype-4-sd0828-infections-causes-high-mortality-rate-and-cytokine-levels-in-specific-pathogen-free-chickens-compared-to-ducks
#20
Rong Li, Gen Li, Jing Lin, Shaojie Han, Xiaolan Hou, Hongyu Weng, Mengjiao Guo, Zhong Lu, Ning Li, Yingli Shang, Tongjie Chai, Liangmeng Wei
Hydropericardium syndrome and inclusion body hepatitis, together called hydropericardium-hepatitis syndrome, are acute infectious diseases found in chickens. These diseases are caused primarily by fowl adenovirus serotype 4 (FAdV-4) strains. In this study, we isolated a FAdV-4 strain (SD0828) from clinically diseased chickens and phylogenetically analyzed the L1 loops of the hexon protein sequences in 3-week-old specific pathogen-free chickens and ducks infected intramuscularly and orally, determining differences in the pathogenicity by observing clinical signs and gross and histological lesions...
2018: Frontiers in Immunology
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