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Clinically isolated syndrome

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https://www.readbyqxmd.com/read/28431785/multicausal-etiology-of-the-enteric-syndrome-in-rabbits-from-mexico
#1
Virginia G García-Rubio, Linda G Bautista-Gómez, José S Martínez-Castañeda, Camilo Romero-Núñez
Enteropathies in rabbits are difficult to diagnose; their etiology involves pathogens that act synergistically, causing damage to the intestine. The aim of the present study was isolate enteric pathogens from rabbits in Mexico. Using parasitological, bacteriological and molecular analyses, we screened 58 samples of the intestinal content of rabbits having a clinical history of enteric disease from the southeastern part of the State of Mexico. Out of the 58 samples analyzed, a total of 86 identifications were made, Eimeria spp...
April 18, 2017: Revista Argentina de Microbiología
https://www.readbyqxmd.com/read/28430954/increased-multinucleated-megakaryocytes-as-an-isolated-finding-in-bone-marrow-%C3%A2-a-rare-finding-and-its-clinical-significance
#2
Majd D Jawad, Ronald S Go, Kaaren K Reichard, Min Shi
Objectives: Multinucleated megakaryocytes are a unique morphologic form of megakaryocytes characterized by multiple, distinctly separated nuclei. We investigated whether increased multinucleated megakaryocytes (≥25%) in otherwise normal-appearing bone marrow were associated with the development of a myelodysplastic syndrome (MDS). Methods: We retrospectively reviewed the medical records and bone marrow biopsy specimens of patients evaluated at our institution from 2011 to 2015 that met all of the following criteria: (1) 25% or more multinucleated megakaryocytes, (2) no other dysplastic features, (3) absence of a myeloid neoplasm, and (4) absence of neoplastic karyotypic abnormalities...
November 1, 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28429635/congenital-hypothalamic-hamartoblastoma-versus-hamartoma
#3
C Dunham, D McFadden, L Dahlgren, B Butler, S Hamilton, M McKinnon
Pallister Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3. Since the seminal publication in 1980, hypothalamic tumors have been recognized to be a cardinal feature of PHS. In their original description of the neuropathologic features of PHS, Clarren et al. coined the term "hamartoblastoma" to characterize what they deemed to be a dual malformative and neoplastic mass of the hypothalamus. In subsequent published cases/series of PHS, the term "hamartoma" was often substituted for hamartoblastoma given what appeared to be a benign natural history of this lesion...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28428103/characteristics-and-clinical-implications-of-reactive-germinal-centers-in-the-bone-marrow
#4
Rose Lou Marie C Agbay, L Jeffrey Medeiros, Joseph D Khoury, Alireza Salem, Carlos E Bueso-Ramos, Sanam Loghavi
Reactive germinal centers (GCs) in the bone marrow (BM) have been described in patients with autoimmune disorders, infections, malignancies and following certain drug therapies, or as an isolated finding without obvious underlying disease. In this study, we describe the clinical conditions in which reactive GCs occur in BM samples, and their topography and accompanying laboratory and ancillary findings in the setting of a cancer center. We identified 32 BM specimens with reactive GCs with an estimated frequency of <0...
April 17, 2017: Human Pathology
https://www.readbyqxmd.com/read/28427691/spastic-paretic-hemifacial-contracture-as-a-presenting-feature-of-multiple-sclerosis
#5
Georgios Koutsis, Marianthi Breza, Maria-Eleftheria Evangelopoulos, Maria Anagnostouli, Elisavet Andreadou, Georgios Karagiorgis, Panagiotis Kokotis, Costas Kilidireas, Nikolaos Karandreas
BACKGROUND: Spastic paretic hemifacial contracture (SPHC) is characterized by sustained unilateral contraction of the facial muscles associated with mild ipsilateral facial paresis. Rarely described in the context of multiple sclerosis (MS), it has never been reported as presenting symptom of MS. CASE REPORTS: Two patients developed SPHC within the context of a clinically isolated syndrome suggestive of MS. EMG revealed continuous resting activity of irregularly firing motor unit potentials, associated with impaired recruitment upon voluntary contraction...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28426643/incidence-and-trends-of-infections-with-pathogens-transmitted-commonly-through-food-and-the-effect-of-increasing-use-of-culture-independent-diagnostic-tests-on-surveillance-foodborne-diseases-active-surveillance-network-10-u-s-sites-2013-2016
#6
Ellyn P Marder, Paul R Cieslak, Alicia B Cronquist, John Dunn, Sarah Lathrop, Therese Rabatsky-Ehr, Patricia Ryan, Kirk Smith, Melissa Tobin-D'Angelo, Duc J Vugia, Shelley Zansky, Kristin G Holt, Beverly J Wolpert, Michael Lynch, Robert Tauxe, Aimee L Geissler
Foodborne diseases represent a substantial public health concern in the United States. CDC's Foodborne Diseases Active Surveillance Network (FoodNet) monitors cases reported from 10 U.S. sites* of laboratory-diagnosed infections caused by nine enteric pathogens commonly transmitted through food. This report describes preliminary surveillance data for 2016 on the nine pathogens and changes in incidences compared with 2013-2015. In 2016, FoodNet identified 24,029 infections, 5,512 hospitalizations, and 98 deaths caused by these pathogens...
April 21, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28424044/emergent-carotid-thromboendarterectomy-for-acute-symptomatic-occlusion-of-the-extracranial-internal-carotid-artery
#7
Igor Gunka, Dagmar Krajickova, Michal Lesko, Stanislav Jiska, Jan Raupach, Miroslav Lojik, Radovan Maly
BACKGROUND: Strokes secondary to acute internal carotid artery (ICA) occlusion are associated with an extremely poor prognosis. The best treatment approach in this setting is still unknown. The aim of our study was to evaluate the efficacy, safety, and outcomes of emergent surgical revascularization of acute extracranial ICA occlusion in patients with minor to severe ischemic stroke. METHODS: A retrospective analysis was performed using prospectively collected data of consecutive patients who underwent carotid thromboendarterectomy for symptomatic acute ICA occlusion during the period from January 2013 to December 2015...
May 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28422950/application-of-high-resolution-array-comparative-genomic-hybridization-in-children-with-unknown-syndromic-microcephaly
#8
Eirini Tsoutsou, Maria Tzetis, Krinio Giannikou, Maria Braoudaki, Anastasis Mitrakos, Stella Amenta, Nikoletta Selenti, Emmanouil Kanavakis, Dimitrios Zafeiriou, Sophia Kitsiou-Tzeli, Helena Fryssira
BACKROUND: Microcephaly can be either isolated or coexists with other neurological entities and/or multiple congenital anomalies, known as syndromic microcephaly. Although many syndromic cases can be classified based on the characteristic phenotype, some others remain uncertain and require further investigation. The present study describes the application of array-Comparative Genomic Hybridization (array-CGH) as a diagnostic tool for the study of patients with clinical unknown syndromic microcephaly...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28421309/genetic-makeup-of-shiga-toxin-producing-escherichia-coli-in-relation-to-clinical-symptoms-and-duration-of-shedding-a-microarray-analysis-of-isolates-from-swedish-children
#9
A Matussek, C Jernberg, I-M Einemo, S Monecke, R Ehricht, I Engelmann, S Löfgren, S Mernelius
Shiga toxin (Stx)-producing Escherichia coli (STECs) cause non-bloody diarrhea, hemorrhagic colitis, and hemolytic uremic syndrome, and are the primary cause of acute renal failure in children worldwide. This study investigated the correlation of genetic makeup of STEC strains as revealed by DNA microarray to clinical symptoms and the duration of STEC shedding. All STEC isolated (n = 96) from patients <10 years of age in Jönköping County, Sweden from 2003 to 2015 were included. Isolates were characterized by DNA microarray, including almost 280 genes...
April 19, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28420439/fragile-x-syndrome-a-review-of-clinical-and-molecular-diagnoses
#10
REVIEW
Claudia Ciaccio, Laura Fontana, Donatella Milani, Silvia Tabano, Monica Miozzo, Susanna Esposito
BACKGROUND: Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000-7000 men and 1:4000-6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5' UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS...
April 19, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28417551/morbidity-and-mortality-after-treatment-of-ewing-sarcoma-a-single-institution-experience
#11
Danielle Novetsky Friedman, Katherine Chastain, Joanne F Chou, Chaya S Moskowitz, Roberto Adsuar, Leonard H Wexler, Alexander J Chou, Amelia DeRosa, Joanne Candela, Heather Magnan, Shawn Pun, Tamara Kahan, Suzanne L Wolden, Paul A Meyers, Kevin C Oeffinger
BACKGROUND: Children, adolescents, and young adults treated for Ewing sarcoma (ES) are at risk for disease-related and treatment-related complications. We aimed to describe early and late overall mortality, cause-specific mortality, and key adverse health outcomes in a large, single-institutional cohort of patients with ES. METHODS: Patients with ES diagnosed at age less than 40 years and treated at Memorial Sloan Kettering between 1974 and 2012 were included. Overall survival was estimated using Kaplan-Meier methods...
April 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28416082/final-diagnosis-of-patients-with-clinically-suspected-vestibular-neuritis-showing-normal-caloric-response
#12
Sung Hwan Ahn, Jung Eun Shin, Chang-Hee Kim
Vestibular neuritis is one of the most common peripheral causes of acute vestibular syndrome, of which the diagnosis is generally based on a comprehensive interpretation of clinical and laboratory findings following reasonable exclusion of other disorders. This study aimed to investigate the final diagnosis of patients admitted to hospital under the clinical impression of vestibular neuritis who showed no unilateral caloric paresis. Forty-five patients who visited the emergency department with isolated acute spontaneous vertigo were included...
April 13, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28415082/p210long-term-outcome-of-primary-mitral-valve-prolapse-results-from-a-population-of-250-patients-referred-to-a-tertiary-cardiovascular-center
#13
V Mecarocci, F Mori
Background: Outcome of Mitral Valve Prolapse (MVP) was controversial for long time. Many studies reported great differences in the incidence of cardiovascular events due, above all, to heterogeneous and small studied populations. Most of theme were also published to late '80 of the last century till early '00. Purpose: To make a contemporary survey on the incidence of cardiovascular events in a selected population of patients affected by primary MVP referred to a tertiary cardiovascular center for the medical and surgical care of valvular heart disease...
December 1, 2016: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28414569/elevated-levels-of-plasma-mitochondrial-dna-are-associated-with-clinical-outcome-in-intra-abdominal-infections-caused-by-severe-trauma
#14
Qiongyuan Hu, Jianan Ren, Jie Wu, Guanwei Li, Xiuwen Wu, Song Liu, Gefei Wang, Guosheng Gu, Jieshou Li
BACKGROUND: The purpose of our study was to determine prospectively relationships between plasma mitochondrial deoxyribonucleic acid (mtDNA) concentration and clinical outcome in patients with intra-abdominal infections (IAIs) induced by severe abdominal trauma. PATIENTS AND METHODS: The DNA was isolated from serum samples taken from patients with IAIs at hospital days zero, one, and two. Plasma mtDNA concentration was assessed by real-time polymerase chain reaction (PCR)...
April 17, 2017: Surgical Infections
https://www.readbyqxmd.com/read/28410768/-small-fiber-neuropathy
#15
V Langlois, A-L Bedat Millet, M Lebesnerais, S Miranda, F Marguet, Y Benhamou, P Marcorelles, H Lévesque
Small fiber neuropathy (SFN) is still unknown. Characterised by neuropathic pain, it typically begins by burning feet, but could take many other expression. SFN affects the thinly myelinated Aδ and unmyelinated C-fibers, by an inherited or acquired mechanism, which could lead to paresthesia, thermoalgic disorder or autonomic dysfunction. Recent studies suggest the preponderant role of ion channels such as Nav1.7. Furthermore, erythromelalgia or burning mouth syndrome are now recognized as real SFN. Various aetiologies of SFN are described...
April 11, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28409124/hospital-dissemination-of-tst-1-positive-clonal-complex-5-cc5-methicillin-resistant-staphylococcus-aureus
#16
Min Wang, Yi Zheng, Jose R Mediavilla, Liang Chen, Barry N Kreiswirth, Yajun Song, Ruifu Yang, Hong Du
Methicillin-resistant Staphylococcus aureus (MRSA), is one of the most prevalent clinical pathogens isolated from hospital settings, and has increasingly identified in community settings. In China, the SCCmecIII-ST239 strains are disseminated in different geographic regions, accounting for >75% of all MRSA isolates in some national studies. Here we characterized 150 non-duplicate MRSA isolates collected from February 2012 to May 2013 in a tertiary hospital in Suzhou, Eastern China, to explore the molecular epidemiology...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28404682/comparison-of-the-eplex%C3%A2-respiratory-pathogen-panel-with-laboratory-developed-real-time-pcr-for-the-detection-of-respiratory-pathogens
#17
R H T Nijhuis, D Guerendiain, E C J Claas, K E Templeton
Infections of the respiratory tract can be caused by a diversity of pathogens, both viral and bacterial. Rapid microbiological diagnosis ensures appropriate antimicrobial therapy as well as effective implementation of isolation precautions. The ePlex® Respiratory Pathogen Panel (RP panel) is a novel molecular based assay, developed by GenMark Diagnostics Inc. (Carlsbad, California), to be performed within a single cartridge for the diagnosis of 25 respiratory pathogens (viral and bacterial). The objective of this study was to compare the performance of the RP panel with laboratory developed real-time PCR assays, using a variety of previously collected clinical respiratory specimens...
April 12, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28402684/a-nonsense-alms1-mutation-underlies-alstr%C3%A3-m-syndrome-in-an-extended-mennonite-kindred-settled-in-north-mexico
#18
Marisa Cruz-Aguilar, Carlos Galaviz-Hernández, José Hiebert-Froese, Martha Sosa-Macías, Juan Carlos Zenteno
AIM: Alström syndrome (AS) is a rare autosomal recessive multisystem disease caused by biallelic mutations in ALMS1, a gene encoding a widely expressed centrosomal/basal body protein. Although more than 200 pathogenic mutations in ALMS1 have been identified to date in AS patients from various ethnic populations, there are very few reports of ALMS1 founder mutations in isolated populations. Our aim was to describe the molecular characterization of an isolate of AS patients from an extended inbred Mennonite kindred settled in Mexico...
April 12, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28402103/patient-derived-airway-secretion-dissociation-technique-to-isolate-and-concentrate-immune-cells-using-closed-loop-inertial-microfluidics
#19
Hyunryul Ryu, Kyungyong Choi, Yanyan Qu, Taehong Kwon, Janet S Lee, Jongyoon Han
Assessment of airway secretion cells, both for research and clinical purposes, is a highly desired goal in patients with acute and chronic pulmonary diseases. However, lack of proper cell isolation and enrichment techniques hinder downstream evaluation and characterization of cells found in airway secretions. Here, we demonstrate a novel enrichment method to capture immune-related cells from clinical airway secretions using closed-loop separation of spiral inertial microfluidics (C-sep). By recirculating the output focusing stream back to the input reservoir and running continuously with a high flow processing rate, one can achieve optimal concentration, recovery and purity of airway immune cells from a large volume of diluent, which was not readily possible in the single-pass operation...
April 21, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28401195/live-birth-pregnancy-outcome-after-first-in-vitro-fertilization-treatment-in-a-patient-with-systemic-lupus-erythematosus-and-isolated-high-positive-iga-anti-%C3%AE-2glycoprotein-i-antibodies-a-case-report
#20
Hristina Andreeva, Marit Seip, Stanislava Koycheva
IgA anti-β2glycoprotein I antibodies (IgA-anti-β2GPI) seems to be the most prevalent isotype in patients with Systemic Lupus Erythematosus (SLE) with a significant association to thrombotic events. Both SLE and antiphospholipid syndrome (APS) can be associated with implantation failure, fetal loss and obstetric complications. Recent reports highlight the clinical value of IgA-anti-β2GPI determination in supporting in vitro fertilization (IVF) treatment and IVF pregnancy outcomes. We report a 36-year-old female diagnosed with SLE, endometriosis and unexplained infertility...
January 2017: Open Medicine (Warsaw, Poland)
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