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Clinically isolated syndrome

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https://www.readbyqxmd.com/read/28107085/registry-of-ocular-anomalies-among-patients-with-genetic-disorders-attending-the-clinical-genetics-department-at-the-national-research-centre-in-egypt
#1
Ola M Eid, Sawsan Abdel Hady, Ahmed El-Kotoury, Khalda A Said, Karima Rafat, Hala T El-Bassyouni
BACKGROUND: The congenital abnormalities of eyes are a major cause of visual impairment throughout the world. Prevention of visual impairment due to congenital and infantile abnormalities of eyes is very important. The aim of this study is to evaluate the frequency and types of congenital ocular anomalies among patients with genetic disorders. PATIENTS AND METHODS: This is a retrospective study that was conducted in the National Research Center, Egypt at the Clinical Genetics Department over a 4-year period...
January 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28105635/dental-and-extra-oral-clinical-features-in-41-patients-with-wnt10a-gene-mutations-a-multicentric-genotype-phenotype-study
#2
C Tardieu, S Jung, K Niederreither, M Prasad, S Hadj-Rabia, N Philip, A Mallet, E Consolino, E Sfeir, B Noueiri, N Chassaing, H Dollfus, M-C Manière, A Bloch-Zupan, F Clauss
WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well as morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, WNT10A mutations are responsible for ectodermal-derived pathologies including isolated hypo-oligodontia, tricho-odonto-onycho-dermal dysplasia (TOODD) and Schöpf-Schulz-Passarge Syndrome (SSPS). Here we describe the dental, ectodermal, and extra-ectodermal phenotypic features of a cohort of 41 patients from 32 unrelated families...
January 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28104935/neurotuberculosis-immune-reconstitution-inflammatory-syndrome-in-the-setting-of-hiv-infection-a-case-report-and-review-of-literature
#3
Deepasree Jaganmohan, Sunitha V Chakkalakkoombil, Anjana A Beena, Nagarajan Krishnan
Immune reconstitution inflammatory syndrome (IRIS) is an exaggerated immune response which can occur with various coinfections in human immunodeficiency virus (HIV) infected patients, of which the most commonly implicated in central nervous system (CNS)-IRIS are progressive multifocal leukoencephalopathy (PML), cryptococcosis, and tuberculosis (TB). TB-IRIS is a known complication of pulmonary TB or TB lymphadenitis coinfection in HIV infected patients who are on antituberculosis treatment (ATT) after the initiation of antiretroviral therapy (ART)...
October 2016: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28104327/clinical-validation-of-3-commercial-real-time-reverse-transcriptase-polymerase-chain-reaction-assays-for-the-detection-of-middle-east-respiratory-syndrome-coronavirus-from-upper-respiratory-tract-specimens
#4
Deqa H Mohamed, AbdulKarim F AlHetheel, Hanat S Mohamud, Kamel Aldosari, Fahad A Alzamil, Ali M Somily
Since discovery of Middle East respiratory syndrome coronavirus (MERS-CoV), a novel betacoronavirus first isolated and characterized in 2012, MERS-CoV real-time reverse transcriptase polymerase chain reaction (rRT-PCR) assays represent one of the most rapidly expanding commercial tests. However, in the absence of extensive evaluations of these assays on positive clinical material of different sources, evaluating their diagnostic effectiveness remains challenging. We describe the diagnostic performance evaluation of 3 common commercial MERS-CoV rRT-PCR assays on a large panel (n = 234) of upper respiratory tract specimens collected during an outbreak episode in Saudi Arabia...
January 10, 2017: Diagnostic Microbiology and Infectious Disease
https://www.readbyqxmd.com/read/28104259/utility-of-extension-views-in-spondylotic-myelopathy-mimicking-transverse-myelitis
#5
Brittani L Conway, Michelle J Clarke, Timothy J Kaufmann, Eoin P Flanagan
Cervical spondylotic myelopathy is a common cause of myelopathy and may mimic transverse myelitis. We report a 55 year-old lady with subacute myelopathy initially treated with glatiramer acetate for suspected clinically isolated syndrome. MRI head and spine revealed a single short cervical cord T2-hyperintense lesion with enhancement just below a region of moderate stenosis. Cerebrospinal fluid revealed elevated oligoclonal bands. Repeat MRI 7 months later showed persistent enhancement. Dynamic MRI revealed cord compression during extension...
January 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28102009/detection-of-equine-herpesvirus-ehv-1-2-4-and-5-in-ethiopian-equids-with-and-without-respiratory-problems-and-genetic-characterization-of-ehv-2-and-ehv-5-strains
#6
H Negussie, D Gizaw, L Tesfaw, Y Li, K Oguma, H Sentsui, T S Tessema, H J Nauwynck
Infections with equine herpesviruses (EHVs) are widespread in equine populations worldwide. Whereas both EHV-1 and EHV-4 produce well-documented respiratory syndromes in equids, the contribution of EHV-2 and EHV-5 to disease of the respiratory tract is still enigmatic. This study describes the detection and genetic characterization of EHVs from equids with and without clinical respiratory disease. Virus-specific PCRs were used to detect EHV-1, -2, -4 and -5. From the total of 160 equids with respiratory disease, EHV-5 was detected at the highest prevalence (23...
January 18, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#7
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28095856/baff-index-and-cxcl13-levels-in-the-cerebrospinal-fluid-associate-respectively-with-intrathecal-igg-synthesis-and-cortical-atrophy-in-multiple-sclerosis-at-clinical-onset
#8
M Puthenparampil, L Federle, S Miante, A Zito, E Toffanin, S Ruggero, M Ermani, S Pravato, D Poggiali, P Perini, F Rinaldi, P Gallo
BACKGROUND: B lymphocytes are thought to play a relevant role in multiple sclerosis (MS) pathology. The in vivo analysis of intrathecally produced B cell-related cytokines may help to clarify the mechanisms of B cell recruitment and immunoglobulin production within the central nervous system (CNS) in MS. METHODS: Paired cerebrospinal fluid (CSF) and serum specimens from 40 clinically isolated syndrome suggestive of MS or early-onset relapsing-remitting MS patients (CIS/eRRMS) and 17 healthy controls (HC) were analyzed for the intrathecal synthesis of IgG (quantitative formulae and IgG oligoclonal bands, IgGOB), CXCL13, BAFF, and IL-21...
January 17, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28095299/african-and-asian-zika-virus-strains-differentially-induce-early-antiviral-responses-in-primary-human-astrocytes
#9
Rodolphe Hamel, Pauline Ferraris, Sineewanlaya Wichit, Fodé Diop, Loïc Talignani, Julien Pompon, Déborah Garcia, Florian Liégeois, Amadou A Sall, Hans Yssel, Dorothée Missé
ZIKA virus (ZIKV) is a newly emerging arbovirus. Since its discovery 60years ago in Uganda, it has spread throughout the Pacific, Latin America and the Caribbean, emphasizing the capacity of ZIKV to spread to non-endemic regions worldwide. Although infection with ZIKV often leads to mild disease, its recent emergence in the Americas has coincided with an increase in adults developing Guillain-Barré syndrome and neurological complications in new-borns, such as congenital microcephaly. Many questions remain unanswered regarding the complications caused by different primary isolates of ZIKV...
January 14, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28092693/pathogenic-streptococcus-strains-employ-novel-escape-strategy-to-inhibit-bacteriostatic-effect-mediated-by-mammalian-peptidoglycan-recognition-protein
#10
Jing Wang, Youjun Feng, Changjun Wang, Swaminath Srinivas, Chen Chen, Hui Liao, Elaine He, Shibo Jiang, Jiaqi Tang
Pathogenic streptococcal species are responsible for some of the most lethal and prevalent animal and human infections. Previous reports have identified a candidate pathogenicity island (PAI) in two highly virulent clinical isolates of Streptococcus suis type 2 (SS2), a causative agent of high-mortality streptococcal toxic shock syndrome (STSS). This PAI contains a Type-IVC secretion system C subgroup (Type-IVC secretion system) that is involved in the secretion of unknown pathogenic effectors that are responsible for STSS caused by highly virulent strains of SS2...
January 16, 2017: Cellular Microbiology
https://www.readbyqxmd.com/read/28081535/efficacy-and-safety-of-continuous-subcutaneous-infusion-of-recombinant-human-gonadotropins-for-congenital-micropenis-during-early-infancy%C3%A2
#11
Athanasia Stoupa, Dinane Samara-Boustani, Isabelle Flechtner, Graziella Pinto, Isabelle Jourdon, Laura González-Briceño, Maud Bidet, Kathleen Laborde, Didier Chevenne, Anne-Elodie Millischer, Henri Lottmann, Thomas Blanc, Yves Aigrain, Michel Polak, Jacques Beltrand
BACKGROUND: Early postnatal administration of gonadotropins to infants with congenital hypogonadotropic hypogonadism (CHH) can mimic minipuberty, thereby increasing penile growth. We assessed the effects of gonadotropin infusion on stretched penile length (SPL) and hormone levels in infants with congenital micropenis. METHODS: Single-center study including 6 males with micropenis in case of isolated CHH (n = 4), panhypopituitarism (n = 1), and partial androgen insensitivity syndrome (PAIS; n = 1)...
January 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28078966/visual-and-cross-modal-cues-increase-the-identification-of-overlapping-visual-stimuli-in-balint-s-syndrome
#12
Daniela D'Imperio, Michele Scandola, Valeria Gobbetto, Cristina Bulgarelli, Matteo Salgarello, Renato Avesani, Valentina Moro
INTRODUCTION: Cross-modal interactions improve the processing of external stimuli, particularly when an isolated sensory modality is impaired. When information from different modalities is integrated, object recognition is facilitated probably as a result of bottom-up and top-down processes. The aim of this study was to investigate the potential effects of cross-modal stimulation in a case of simultanagnosia. METHOD: We report a detailed analysis of clinical symptoms and an (18)F-fluorodeoxyglucose (FDG) brain positron emission tomography/computed tomography (PET/CT) study of a patient affected by Balint's syndrome, a rare and invasive visual-spatial disorder following bilateral parieto-occipital lesions...
January 12, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28076021/radiologic-assessment-of-native-renal-vasculature-a-multimodality-review
#13
Sayf Al-Katib, Monisha Shetty, Syed Mohammad A Jafri, Syed Zafar H Jafri
A wide range of clinically important anatomic variants and pathologic conditions may affect the renal vasculature, and radiologists have a pivotal role in the diagnosis and management of these processes. Because many of these entities may not be suspected clinically, renal artery and vein assessment is an essential application of all imaging modalities. An understanding of the normal vascular anatomy is essential for recognizing clinically important anatomic variants. An understanding of the protocols used to optimize imaging modalities also is necessary...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28074712/high-throughput-whole-genome-sequencing-of-porcine-reproductive-and-respiratory-syndrome-virus-from-cell-culture-materials-and-clinical-specimens-using-next-generation-sequencing-technology
#14
Jianqiang Zhang, Ying Zheng, Xiao-Qin Xia, Qi Chen, Sarah A Bade, Kyoung-Jin Yoon, Karen M Harmon, Phillip C Gauger, Rodger G Main, Ganwu Li
Next-generation sequencing (NGS) technologies have increasingly played crucial roles in biological and medical research, but are not yet in routine use in veterinary diagnostic laboratories. We developed and applied a procedure for high-throughput RNA sequencing of Porcine reproductive and respiratory syndrome virus (PRRSV) from cell culture-derived isolates and clinical specimens. Ten PRRSV isolates with known sequence information, 2 mixtures each with 2 different PRRSV isolates, and 51 clinical specimens (19 sera, 16 lungs, and 16 oral fluids) with various PCR threshold cycle (Ct) values were subjected to nucleic acid extraction, cDNA library preparation (24-plexed), and sequencing...
January 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28073728/biermer-anemia-hematologic-characteristics-of-66-patients-in-a-clinical-hematology-unit-at-senegal
#15
F Seynabou, N Fatou Samba Diago, D Oulimata Diop, S Abibatou Fall, D Nafissatou
Hematological manifestations can lead to diagnosis of pernicious anemia, also known as Biermer disease and Biermer anemia. This disease has been little studied among black Africans. Our aim is to describe its diagnostic and therapeutic aspects and outcome in our practice. This descriptive study retrospectively examined the records of 66 patients with pernicious anemia seen at the Clinical Hematology Unit of Le Dantec Hospital in Senegal from January 1, 2000, to June 30, 2014. Symptoms were anemic syndrome (40 cases), hemolytic anemia (13), anemic heart failure (7), isolated pallor of the mucous membranes (5), and venous thrombosis (2)...
November 1, 2016: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/28069879/treating-clinically-isolated-syndrome-the-long-game
#16
EDITORIAL
Jeremy Chataway
No abstract text is available yet for this article.
January 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28069378/role-of-n-glycosylation-on-zika-virus-e-protein-secretion-viral-assembly-and-infectivity
#17
M Mossenta, S Marchese, M Poggianella, J L Slon Campos, O R Burrone
Zika virus has rapidly spread reaching a global distribution pattern similar to that of dengue virus, and has been associated with serious neurological and developmental pathologies, like congenital malformation during pregnancy and Guillain-Barré syndrome. Sequence analysis of different clinical and laboratory isolates has shown the existence of mutants with loss of the conserved N-glycosylation motif on domain I of protein E that is common to all flaviviruses. We found that loss of E N-linked glycosylation leads to compromised expression and secretion of E ectodomain from mammalian cells...
January 6, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28068594/prevention-of-spontaneous-preterm-birth-guidelines-for-clinical-practice-from-the-french-college-of-gynaecologists-and-obstetricians-cngof
#18
REVIEW
Loïc Sentilhes, Marie-Victoire Sénat, Pierre-Yves Ancel, Elie Azria, Guillaume Benoist, Julie Blanc, Gilles Brabant, Florence Bretelle, Stéphanie Brun, Muriel Doret, Chantal Ducroux-Schouwey, Anne Evrard, Gilles Kayem, Emeline Maisonneuve, Louis Marcellin, Stéphane Marret, Nicolas Mottet, Sabine Paysant, Didier Riethmuller, Patrick Rozenberg, Thomas Schmitz, Héloïse Torchin, Bruno Langer
In France, 60,000 neonates are born preterm every year (7.4%), half of them after the spontaneous onset of labor. Among preventable risk factors of spontaneous prematurity, only cessation of smoking is associated with decreased prematurity (level of evidence [LE]1). It is therefore recommended (Grade A). Routine screening and treatment of vaginal bacteriosis is not recommended in the general population (Grade A). The only population for which vaginal progesterone is recommended is that comprising asymptomatic women with singleton pregnancies, no history of preterm delivery, and a short cervix at 16-24 weeks of gestation (Grade B)...
December 30, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28064284/surgery-modified-pi-with-triple-bonnet-flap-and-fronto-orbital-advancement
#19
Uday Singh Raswan, Sarbjit Singh Chhiber, Altaf Umar Ramzan
INTRODUCTION: Craniosynostosis is the premature fusion of one or more of the cranial sutures and can occur as part of a syndrome or as an isolated defect. Pansynostosis is a rare form of craniosynostosis that involves premature fusion of all the cranial sutures (coronal, sagittal, metopic, and occipital). Particularly in cases of late presentation, there are heightened clinical concerns, both functional and aesthetic. In untreated cases of pansynostosis and increased intracranial pressure, optic nerve damage progresses to optic atrophy and then blindness...
January 7, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28062419/contained-ruptured-abdominal-aortic-aneurysm-presenting-as-cauda-equina-syndrome
#20
Serge A Engamba, Dovile Garaleviciene, Jonathan Baldry
This is the case report of a contained ruptured aortic aneurysm presenting with acute cauda equina syndrome. The patient was a 79-year-old man. A literature search revealed various unusual presentations of abdominal aortic aneurysm (AAA), including femoral neuropathy, hip pain and others; however, there are no other reports of cauda equina-like syndrome. The present case is therefore another unusual presentation of ruptured abdominal aortic aneurysm and reiterates the utmost importance of careful history taking and clinical examination...
January 6, 2017: BMJ Case Reports
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