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Clinically isolated syndrome

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https://www.readbyqxmd.com/read/28644254/sporadic-creutzfeldt-jakob-disease-with-unilateral-symptoms-in-the-setting-of-metastatic-renal-cell-carcinoma
#1
Kyle C Rossi, Christine M Stahl, Pengfei Zhang, John W Liang, Lara V Marcuse, Fred Lublin
INTRODUCTION: Although it is not rare for magnetic resonance imaging findings in Creutzfeldt-Jakob disease to be asymmetric, unilateral clinical syndromes are uncommonly reported and may confound diagnosis. In addition, neurological paraneoplastic syndromes are not common in renal cell carcinoma, though there are cases reported, often without an offending antibody isolated. CASE REPORT: A 66-year-old man was admitted with 1 month of left-sided numbness and "loss of control" of the left arm...
July 2017: Neurologist
https://www.readbyqxmd.com/read/28643402/clinical-findings-in-right-ventricular-noncompaction-in-hypoplastic-left-heart-syndrome
#2
Monique M Gardner, Meryl S Cohen
BACKGROUND: Noncompaction is a poorly understood form of cardiomyopathy that typically affects the left ventricle and may be associated with congenital heart disease. Right ventricular noncompaction (RVNC) may occur when the left ventricle is affected but is rarely seen in isolation. RVNC may have clinical significance affecting surgical and long-term outcomes. We describe the diagnosis and clinical course in three patients at our institution. METHODS: We performed a retrospective review of patients diagnosed with RVNC over a 12-month period at our institution and reviewed their imaging and clinical course...
June 23, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28642887/dynamic-regulation-of-serum-aryl-hydrocarbon-receptor-agonists-in-ms
#3
Veit Rothhammer, Davis M Borucki, Maria Isabel Garcia Sanchez, Maria Antonietta Mazzola, Christopher C Hemond, Keren Regev, Anu Paul, Pia Kivisäkk, Rohit Bakshi, Guillermo Izquierdo, Howard L Weiner, Francisco J Quintana
OBJECTIVE: Several factors influence the clinical course of autoimmune inflammatory diseases such as MS and inflammatory bowel disease. Only recently, the complex interaction between the gut microbiome, dietary factors, and metabolism has started to be appreciated with regard to its potential to modulate acute and chronic inflammation. One of the molecular sensors that mediates the effects of these environmental signals on the immune response is the aryl hydrocarbon receptor (AHR), a ligand-activated transcription factor with key functions in immune cells...
July 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28642745/structure-of-o-antigen-and-hybrid-biosynthetic-locus-in-burkholderia-cenocepacia-clonal-variants-recovered-from-a-cystic-fibrosis-patient
#4
A A Hassan, Rita F Maldonado, Sandra C Dos Santos, Flaviana Di Lorenzo, Alba Silipo, Carla P Coutinho, Vaughn S Cooper, Antonio Molinaro, Miguel A Valvano, Isabel Sá-Correia
Burkholderia cenocepacia is an opportunistic pathogen associated with chronic lung infections and increased risk of death in patients with cystic fibrosis (CF). In this work, we investigated the lipopolysaccharide (LPS) of clinical variants of B. cenocepacia that were collected from a CF patient over a period of 3.5 years, from the onset of infection until death by necrotizing pneumonia (cepacia syndrome). We report the chemical structure of the LPS molecule of various sequential isolates and the identification of a novel hybrid O-antigen (OAg) biosynthetic cluster...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28642162/ngs-panel-analysis-in-24-ectopia-lentis-patients-a-clinically-relevant-test-with-a-high-diagnostic-yield
#5
E Overwater, K Floor, D van Beek, K de Boer, T van Dijk, Y Hilhorst-Hofstee, A J M Hoogeboom, K J van Kaam, J M van de Kamp, M Kempers, I P C Krapels, H Y Kroes, B Loeys, S Salemink, C T R M Stumpel, V J M Verhoeven, E Wijnands-van den Berg, J M Cobben, J P van Tintelen, M M Weiss, A C Houweling, A Maugeri
BACKGROUND: Several genetic causes of ectopia lentis (EL), with or without systemic features, are known. The differentiation between syndromic and isolated EL is crucial for further treatment, surveillance and counseling of patients and their relatives. Next generation sequencing (NGS) is a powerful tool enabling the simultaneous, highly-sensitive analysis of multiple target genes. OBJECTIVE: The aim of this study was to evaluate the diagnostic yield of our NGS panel in EL patients...
June 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28641519/neural-stem-cells-and-human-induced-pluripotent-stem-cells-to-model-rare-cns-diseases
#6
Lidia De Filippis, Cristina Zalfa, Daniela Ferrari
Despite the great effort spent over the last decades to unravel the pathological mechanisms underpinning the development of central nervous system disorders, most of them remain still unclear. In particular, the study of rare brain diseases is hurdled by the lack of post-mortem samples and of reliable epidemiological studies, thus the setting of in vitro modeling systems appears essential to dissect the puzzle of genetic and environmental alterations affecting neural cells viability and functionality The isolation and expansion in vitro of embryonic (ESC) and fetal neural stem cells (NSC) from human tissue has efficiently allowed to model several neurological diseases "in a dish" and has also provided a novel platform to test potential therapeutic strategies in a pre-clinical setting...
June 15, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28639874/compression-treatment-of-pelvic-congestion-syndrome
#7
S G Gavrilov, A V Karalkin, O O Turischeva
Aim To study the influence of compression treatment on clinical manifestations and venous hemodynamics of the pelvis in patients with pelvic congestion syndrome. Materials and methods A prospective study of the various options and modes of compression treatment was carried out and included 74 patients with pelvic congestion syndrome in 2008-2015. The patients were divided into three groups. The first group consisted of 48 patients with symptoms of pelvic congestion syndrome and chronic pelvic pain. They used Class II compression shorts...
January 1, 2017: Phlebology
https://www.readbyqxmd.com/read/28638851/mucosal-biopsy-shows-immunologic-changes-of-the-colon-in-patients-with-early-ms
#8
Adrian Mathias Moser, Walter Spindelboeck, Heimo Strohmaier, Christian Enzinger, Thomas Gattringer, Siegrid Fuchs, Franz Fazekas, Gregor Gorkiewicz, Philipp Wurm, Christoph Högenauer, Michael Khalil
OBJECTIVE: To investigate immune cells of the colonic mucosa and fecal short-chain fatty acids (SCFAs) in treatment-naive patients with a clinically isolated syndrome (CIS) or early relapsing MS. METHODS: In this cross-sectional proof-of-concept study, we obtained mucosal specimens during ileocolonoscopy from 15 untreated patients with CIS/MS and 10 controls. Mucosal immune cells were analyzed by FACS, and gas chromatography-mass spectrometry measurements of stool samples served to determine SCFA...
July 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28637179/is-delayed-surgical-revascularization-in-acute-myocardial-infarction-useful-or-dangerous-new-insights-into-an-old-problem
#9
Philippe Grieshaber, Peter Roth, Lukas Oster, Tobias M Schneider, Gerold Görlach, Bernd Nieman, Andreas Böning
OBJECTIVES: Haemodynamically stable patients admitted for coronary artery bypass grafting in acute myocardial infarction often undergo delayed surgery in order to avoid the risks of emergency surgery. However, initially stable patients undergoing delayed surgery may develop low cardiac output syndrome (LCOS) during the waiting period, which might be a major drawback of this strategy. We aim to define risk factors and clinical consequences of LCOS during the waiting period. METHODS: A total of 530 consecutive patients with acute myocardial infarction (33% non-ST-segment elevation myocardial infarction and 67% ST-segment-elevation myocardial infarction) underwent isolated coronary artery bypass grafting between 2008 and 2013...
June 20, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28631656/brevundimonas-diminuta-infection-in-a-case-of-nephrotic-syndrome
#10
Abhilash Chandra, Anupam Das, Manodeep Sen, Meenakshi Sharma
Brevundimonas has rarely been isolated from clinical specimens. We here report a case of Brevundimonas diminuta infection in an 18-year-old male patient with nephrotic syndrome. B. diminuta was identified by the VITEK 2 Compact system, following isolation from his blood sample. To the best of our knowledge, B. diminuta has not been reported in patients with nephrotic syndrome.
April 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28630837/excision-of-solitary-osteochondroma-on-the-ventral-aspect-of-left-scapula-presenting-as-pseudowinging-in-a-4-year-old-boy-a-rare-case-report
#11
P Hegin Tungdim, I Ibomcha Singh, Sagnik Mukherjee, Tobu Pertin
INTRODUCTION: Osteochondroma is a benign bony lesion with cartilaginous cap occurring usually in long bones, but flat bones may also be involved, either isolated or as a part of a syndrome. Usually, they are asymptomatic, but appearance of symptoms such as mass effect may warrant surgical intervention, which is usually delayed till skeletal maturity. CASE REPORT: A 4-year-old male child presented with swelling on ventral aspect of inferior angle of scapula associated with pain, pseudowinging of scapula, and snapping sound of the left shoulder on movement...
January 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28625940/prodromal-stage-of-disease-dementia-with-lewy-bodies-how-to-diagnose-in-practice
#12
Frédéric Blanc, Marc Verny
Disease with Lewy bodies or dementia with Lewy bodies (DLB), particularly at the prodromal stage, is a complex disease to diagnose because of different clinical beginnings and variable paths in terms of clinical expression. Thus DLB can be entcountered in different input modes: mild cognitive impairment, depression, acute behavioral disorders, confusion and delirium, or sleep disorders. In the aim to better diagnose the disease, should be sought obviously to search for the key symptoms: fluctuations, hallucinations, extra-pyramidal syndrome, and REM sleep behavior disorder...
June 1, 2017: Gériatrie et Psychologie Neuropsychiatrie du Vieillissement
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#13
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
June 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28623672/craniosynostosis-recognition-clinical-characteristics-and-treatment
#14
REVIEW
Nina Kajdic, Peter Spazzapan, Tomaz Velnar
Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. The main cause of craniosynostosis is premature closure of one or more cranial sutures. It usually occurs as an isolated condition, but may also be associated with other malformations as part of complex syndromes. When left untreated, craniosynostosis can cause serious complications, such as developmental delay, facial abnormality, sensory, respiratory and neurological dysfunction, anomalies affecting the eye, and psychological disturbances...
June 17, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28620242/salivary-testosterone-measurement-in-women-with-and-without-polycystic-ovary-syndrome
#15
Thozhukat Sathyapalan, Ahmed Al-Qaissi, Eric S Kilpatrick, Soha R Dargham, Joanne Adaway, Brian Keevil, Stephen L Atkin
Clinical and/or biochemical hyperandrogenism is one of the diagnostic criteria for PCOS. An evaluation of the role of salivary testosterone (salT) and androstenedione (salA) for the diagnosis of PCOS was undertaken in a cross sectional study involving 65 women without PCOS and 110 women with PCOS fulfilling all 3 diagnostic Rotterdam criteria. Serum and salivary androgen measurements were determined by LC-MS/MS. salT and salA were significantly elevated in PCOS compared to controls (P < 001). No androgen marker was more predictive than another using ROC curves, but multiple logistic regression suggested salT was more predictive than free androgen index (FAI) (p < 0...
June 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28619842/cumulative-dose-of-macrocyclic-gadolinium-based-contrast-agent-improves-detection-of-enhancing-lesions-in-patients-with-multiple-sclerosis
#16
A Rovira, C Auger, E Huerga, J F Corral, R Mitjana, J Sastre-Garriga, M Tintoré, X Montalban
BACKGROUND AND PURPOSE: Gadolinium-enhanced MR imaging is currently the reference standard for detecting active inflammatory lesions in patients with multiple sclerosis. The sensitivity of MR imaging for this purpose may vary according to the physicochemical characteristics of the contrast agent used and the acquisition strategy. The purpose of this study was to compare detection of gadolinium- enhancing lesions or active disease following a single or cumulative dose of a macrocyclic gadolinium-based contrast agent with different image acquisition delays in patients with clinically isolated syndrome or relapsing multiple sclerosis...
June 15, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28619432/computerized-posturography-is-more-sensitive-than-clinical-romberg-test-in-detecting-postural-control-impairment-in-minimally-impaired-multiple-sclerosis-patients
#17
Federica Melillo, Alessia Di Sapio, Serena Martire, Maria Malentacchi, Manuela Matta, Antonio Bertolotto
Balance impairment, frequent in Multiple Sclerosis patients (MS), is difficult to detect promptly with routine clinical examination. Computerized platforms can measure subtle deficit but, given the complexity of postural system, multiple tests should be adopted. To evaluate whether platform was more sensitive than Romberg Test (RT) in detecting balance abnormalities, we 1) chose a battery of posturographic tests, 2) collected normative data from 58 healthy subjects 3) applied the tests to Clinically Isolated Syndrome (n=42) and minimally impaired MS (n=76)...
May 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28619168/comparison-of-asian-porcine-high-fever-disease-isolates-of-porcine-reproductive-and-respiratory-syndrome-virus-to-united-states-isolates-for-their-ability-to-cause-disease-and-secondary-bacterial-infection-in-swine
#18
Susan L Brockmeier, Crystal L Loving, Mitchel V Palmer, Allyn Spear, Tracy L Nicholson, Kay S Faaberg, Kelly M Lager
Epidemiologic data from Asian outbreaks of highly-pathogenic (HP) porcine reproductive and respiratory syndrome virus (PRRSV) suggest that disease severity was associated with both the virulence of the PRRSV isolates and secondary bacterial infections. Previous reports have indicated that U.S. isolates of PRRSV predispose to secondary bacterial infections as well, but the severity of disease that occurred in Asia in pigs infected with these HP-PRRSV strains has not been reported in the U.S. The objectives of this research were to compare the pathogenesis of Asian and U...
May 2017: Veterinary Microbiology
https://www.readbyqxmd.com/read/28619130/occurrence-of-mycoplasma-hyorhinis-infections-in-fattening-pigs-and-association-with-clinical-signs-and-pathological-lesions-of-enzootic-pneumonia
#19
Adrian Luehrs, Salome Siegenthaler, Niels Grützner, Elisabeth Grosse Beilage, Peter Kuhnert, Heiko Nathues
Respiratory disorders in fattening pigs are of major concern worldwide. Particularly Enzootic Pneumonia remains a problem for the pig industry. This chronic respiratory disease is primarily caused by Mycoplasma hyopneumoniae (M. hyopneumoniae). However, more recently it was hypothesised that M. hyorhinis can also cause similar lung lesions. To investigate the relevance of M. hyorhinis as a cause of pneumonia in fattening pigs 10 farms in Switzerland (considered free of Enzootic Pneumonia) and 20 farms in Germany (regarded as endemic for Enzootic Pneumonia) with a history of chronic and/or recurrent respiratory diseases were included in the study...
May 2017: Veterinary Microbiology
https://www.readbyqxmd.com/read/28618058/detection-of-iron-restriction-in-anaemic-and-non-anaemic-patients-new-diagnostic-approaches
#20
Lothar Thomas, Christian Thomas
OBJECTIVE: The aim of this study was to detect iron restriction in non-anaemic patients and iron-restricted erythropoiesis (IRE) in patients with anaemia. METHOD: Haematologic indices and biochemical markers of iron deficiency (ID) were determined using the clinically accepted cut-off level for serum ferritin of ≤30 μg/l as reference of ID. To evaluate the prevalence of iron restriction and IRE in patients with higher ferritin levels we used the thresholds of the markers of ID as reference...
June 15, 2017: European Journal of Haematology
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