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fuchs syndrome

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https://read.qxmd.com/read/30776193/prenatal-imaging-of-genital-defects-clinical-spectrum-and-predictive-factors-for-severe-forms
#1
F Fuchs, P Borrego, C Amouroux, B Antoine, M Ollivier, J M Faure, C Lopez, D Forgues, A Faure, T Merrot, P Boulot, C Jeandel, P Philibert, L Gaspari, C Sultan, F Paris, N Kalfa
OBJECTIVES: 1-To report the clinical spectrum of genital defects diagnosed before birth, 2- to identify predictive factors for severe phenotypes at birth 3- to determine the rate of associated malformations. METHODS: A retrospective study (2008-2017) of 4580 fetuses identified prenatally with abnormalities evaluated by our Reference Center for Fetal Medicine included cases with fetal sonographic finding of abnormal genitalia or uncertainty of fetal sex determination...
February 18, 2019: BJU International
https://read.qxmd.com/read/30771336/clinical-manifestations-prognosis-and-vaccination-status-of-patients-with-rubella-virus-associated-uveitis
#2
Fahriye Groen-Hakan, Suzanne van de Laar, Annemiek A van der Eijk-Baltissen, Ninette Ten Dam van Loon, Joke de Boer, Aniki Rothova
PURPOSE: To assess the clinical and laboratory manifestations and vaccination status of uveitis patients positive for Rubella virus (RV) in aqueous humor and investigate its relationship to Fuchs Uveitis Syndrome (FUS). METHODS: Retrospective study of all uveitis patients, positive for RV in aqueous humor analysis (polymerase chain reaction (PCR) and/or Goldmann-Witmer coefficient (GWC)) between January 2010 and October 2016 at the ophthalmology departments in the Erasmus Medical Center (Rotterdam) and University Medical Center Utrecht...
February 13, 2019: American Journal of Ophthalmology
https://read.qxmd.com/read/30758665/dietary-and-lifestyle-factors-in-multiple-sclerosis-progression-results-from-a-5-year-longitudinal-mri-study
#3
Dejan Jakimovski, Bianca Weinstock-Guttman, Sirin Gandhi, Yi Guan, Jesper Hagemeier, Deepa P Ramasamy, Tom A Fuchs, Richard W Browne, Niels Bergsland, Michael G Dwyer, Murali Ramanathan, Robert Zivadinov
BACKGROUND: Evidence regarding the role, if any, of dietary and lifestyle factors in the pathogenesis of multiple sclerosis (MS) is poorly understood. OBJECTIVE: To assess the effect of lifestyle-based risk factors linked to cardiovascular disease (CVD) on clinical and MRI-derived MS outcomes. METHODS: The study enrolled 175 MS or clinically isolated syndrome (CIS) patients and 42 age- and sex-matched healthy controls (HCs) who were longitudinally followed for 5...
February 13, 2019: Journal of Neurology
https://read.qxmd.com/read/30718072/ramucirumab-with-cisplatin-and-fluoropyrimidine-as-first-line-therapy-in-patients-with-metastatic-gastric-or-junctional-adenocarcinoma-rainfall-a-double-blind-randomised-placebo-controlled-phase-3-trial
#4
Charles S Fuchs, Kohei Shitara, Maria Di Bartolomeo, Sara Lonardi, Salah-Eddin Al-Batran, Eric Van Cutsem, David H Ilson, Maria Alsina, Ian Chau, Jill Lacy, Michel Ducreux, Guillermo Ariel Mendez, Alejandro Molina Alavez, Daisuke Takahari, Wasat Mansoor, Peter C Enzinger, Vera Gorbounova, Zev A Wainberg, Susanna Hegewisch-Becker, David Ferry, Ji Lin, Roberto Carlesi, Mayukh Das, Manish A Shah
BACKGROUND: VEGF and VEGF receptor 2 (VEGFR-2)-mediated signalling and angiogenesis can contribute to the pathogenesis and progression of gastric cancer. We aimed to assess whether the addition of ramucirumab, a VEGFR-2 antagonist monoclonal antibody, to first-line chemotherapy improves outcomes in patients with metastatic gastric or gastro-oesophageal junction adenocarcinoma. METHODS: For this double-blind, randomised, placebo-controlled, phase 3 trial done at 126 centres in 20 countries, we recruited patients aged 18 years or older with metastatic, HER2-negative gastric or gastro-oesophageal junction adenocarcinoma, an Eastern Cooperative Oncology Group (ECOG) performance status of 0 or 1, and adequate organ function...
February 1, 2019: Lancet Oncology
https://read.qxmd.com/read/30655375/deep-sequencing-of-bone-marrow-microenvironments-of-patients-with-del-5q-myelodysplastic-syndrome-reveals-imprints-of-antigenic-selection-as-well-as-generation-of-novel-t-cell-clusters-as-response-pattern-to-lenalidomide
#5
Thorben Mährle, Nuray Akyüz, Pim Fuchs, Nicola Bonzanni, Donjete Simnica, Ulrich Germing, Anne Marie Asemissen, Johann-Christoph Jann, Florian Nolte, Wolf-Karsten Hofmann, Daniel Nowak, Mascha Binder
In del(5q) myelodysplastic syndromes, lenalidomide is believed to reverse anergic T cell immunity in the bone marrow resulting in suppression of the del(5q)-clone. Here, we used next-generation sequencing of immunoglobulin heavy chain (IGH) and T cell receptor beta (TRB) rearrangements in bone marrow residing and peripheral blood circulating lymphocytes of patients with del(5q) myelodysplastic syndromes to assess the immune architecture and track adaptive immune responses during treatment with lenalidomide...
January 17, 2019: Haematologica
https://read.qxmd.com/read/30605941/spontaneous-lens-absorption-initially-misdiagnosed-as-crystalline-lens-luxation
#6
Şaban Gönül, Ayşe Bozkurt Oflaz, Berker Bakbak, Kamil Yavuzer, Banu Bozkurt
Spontaneous lens absorption (SLA) is a rare complication of hypermature cataract. However, this condition has been reported in several cases of hypermature cataracts that were caused by trauma, senility, uveitic disorders such as Fuchs’ uveitis syndrome (FUS), and infectious disorders including leptospirosis and rubella. We report a case of spontaneous absorption of a hypermature cataract secondary to FUS. To our knowledge, this is the first report of SLA that was followed by dislocation of the capsular remnants into the vitreous and resulted in a misdiagnosis as crystalline lens luxation...
December 27, 2018: Turkish Journal of Ophthalmology
https://read.qxmd.com/read/30578712/the-structure-of-the-shiga-toxin-2a-a-subunit-dictates-the-interactions-of-the-toxin-with-blood-components
#7
Maurizio Brigotti, Dorothea Orth-Höller, Domenica Carnicelli, Elisa Porcellini, Elisabetta Galassi, Pier Luigi Tazzari, Francesca Ricci, Francesco Manoli, Ilse Manet, Heribert Talasz, Herbert H Lindner, Cornelia Speth, Thomas Erbeznik, Stefan Fuchs, Wilfried Posch, Sneha Chatterjee, Reinhard Würzner
Hemolytic uremic syndrome (eHUS) is a severe complication of human infections with Shiga toxins (Stxs)-producing Escherichia coli. A key step in the pathogenesis of eHUS is the interaction of Stxs with blood components before the targeting of renal endothelial cells. Here we show that a single proteolytic cleavage in the Stx2a A-subunit, resulting into two fragments (A1 and A2) linked by a disulfide bridge (cleaved Stx2a), dictates different binding abilities. Uncleaved Stx2a was confirmed to bind to human neutrophils and to trigger leukocyte/platelet aggregate formation, while cleaved Stx2a was ineffective...
December 22, 2018: Cellular Microbiology
https://read.qxmd.com/read/30574928/shewanella-algae-keratitis
#8
Chelsey A Bravenec, Rahul T Pandit, Hilary A Beaver
A 75-year-old male with a right eye history of chronic dry eye syndrome, glaucoma status post tube shunt, and Fuchs dystrophy status post Descemet stripping endothelial keratoplasty followed by penetrating keratoplasty (PKP) presented with a 2.7 × 4.2 mm corneal ulcer, culture positive for Shewanella algae and Klebsiella oxytoca. A topical antibiotic regimen of gentamicin 14 mg/mL and vancomycin 50 mg/mL was administered according to culture sensitivities. There was concurrent use of loteprednol 0.5% (Lotemax Gel, Bausch and Lomb, Rochester, NY, USA) and later addition of erythromycin 0...
January 2019: Indian Journal of Ophthalmology
https://read.qxmd.com/read/30557570/r125h-w240s-c386r-and-v507i-slc4a11-mutations-associated-with-corneal-endothelial-dystrophy-affect-the-transporter-function-but-not-trafficking-in-ps120-cells
#9
Shimin Li, Karmjot Singh Hundal, Xingjuan Chen, Moonjung Choi, Diego G Ogando, Alexander G Obukhov, Joseph A Bonanno
SLC4A11 mutations are associated with Fuchs' endothelial corneal dystrophy (FECD), congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome (endothelial dystrophy with auditory deficiency). Mice with genetically ablated Slc4a11 recapitulate CHED, exhibiting significant corneal edema and altered endothelial morphology. We recently demonstrated that SLC4A11 functions as an NH3 sensitive, electrogenic H+ transporter. Here, we investigated the properties of five clinically relevant SLC4A11 mutants: R125H, W240S, C386R, V507I and N693A, relative to wild type, expressed in a PS120 fibroblast cell line...
December 14, 2018: Experimental Eye Research
https://read.qxmd.com/read/30556925/loss-of-nfat2-expression-results-in-the-acceleration-of-clonal-evolution-in-chronic-lymphocytic-leukemia
#10
David J Müller, Stefan Wirths, Alexander R Fuchs, Melanie Märklin, Jonas S Heitmann, Marc Sturm, Michael Haap, Andreas Kirschniak, Yoshiteru Sasaki, Lothar Kanz, Hans-Georg Kopp, Martin R Müller
Chronic lymphocytic leukemia (CLL) can be defined as a clonal expansion of B cells with stereotypic BCRs. Somatic hypermutation of the BCR heavy chains (IGVH) defines a subgroup of patients with a better prognosis. In up to 10% of CLL cases, a transformation to an aggressive B cell lymphoma (Richter's syndrome) with a dismal prognosis can be observed over time. NFAT proteins are transcription factors originally identified in T cells, which also play an important role in B cells. The TCL1 transgenic mouse is a well-accepted model of CLL...
December 17, 2018: Journal of Leukocyte Biology
https://read.qxmd.com/read/30540347/association-of-antipsychotic-treatment-with-risk-of-unexpected-death-among-children-and-youths
#11
Wayne A Ray, C Michael Stein, Katherine T Murray, D Catherine Fuchs, Stephen W Patrick, James Daugherty, Kathi Hall, William O Cooper
Importance: Children and youths who are prescribed antipsychotic medications have multiple, potentially fatal, dose-related cardiovascular, metabolic, and other adverse events, but whether or not these medications are associated with an increased risk of death is unknown. Objective: To compare the risk of unexpected death among children and youths who are beginning treatment with antipsychotic or control medications. Design, Setting, and Participants: This retrospective cohort study was conducted from 1999 through 2014 and included Medicaid enrollees aged 5 to 24 years in Tennessee who had no diagnosis of severe somatic illness, schizophrenia or related psychoses, or Tourette syndrome or chronic tic disorder...
December 12, 2018: JAMA Psychiatry
https://read.qxmd.com/read/30504763/a-retrospective-observational-study-of-uveitis-in-a-single-center-in-poland-with-a-review-of-findings-in-europe
#12
Joanna Brydak-Godowska, Katarzyna Moskal, Piotr K Borkowski, Mariusz Przybyś, Monika Turczyńska, Dariusz Kęcik
BACKGROUND This study aimed to review the causes, presentation, and clinicopathological associations of uveitis in a single department of ophthalmology in Poland, and to compare the findings with previously published studies from other European countries. MATERIAL AND METHODS Review of local patient records between 2005-2015 identified patients diagnosed with uveitis. Data obtained included age, gender, imaging findings, and laboratory diagnostic findings. A literature review identified 24 publications from 1976-2017 that reported observational data from patients with uveitis in Europe...
December 3, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://read.qxmd.com/read/30389078/anti-n-methyl-d-aspartate-receptor-encephalitis-and-electroconvulsive-therapy-literature-review-and-future-directions
#13
REVIEW
Yasas Chandra Tanguturi, Allyson Witters Cundiff, Catherine Fuchs
Despite the majority of patients with anti-N-methyl d-aspartate receptor (NMDAR) antibody encephalitis presenting with catatonic symptoms, the literature has not focused on well-known treatments for catatonia, such as electroconvulsive therapy (ECT). The authors review the literature identifying case reports that document the effective use of ECT for anti-NMDAR encephalitis. They also identify gaps in the literature regarding use and documentation of ECT and review possible mechanisms of action for ECT. The authors propose identifying catatonia as a syndrome with multiple potential causes (including anti-NMDAR encephalitis) and suggest a standardized treatment approach using evidence-based catatonia treatments such as ECT and benzodiazepines...
January 2019: Child and Adolescent Psychiatric Clinics of North America
https://read.qxmd.com/read/30345620/demystifying-viral-anterior-uveitis-a-review
#14
REVIEW
Nicole Shu-Wen Chan, Soon-Phaik Chee
A viral aetiology should be suspected when anterior uveitis is accompanied by ocular hypertension, diffuse stellate keratic precipitates or the presence of iris atrophy. The most common viruses associated with anterior uveitis include herpes simplex virus, varicella-zoster virus, cytomegalovirus and rubella virus. They may present as the following: Firstly, granulomatous cluster of small and medium-sized keratic precipitates in Arlt's triangle, with or without corneal scars, suggestive of herpes simplex or varicella-zoster virus infection...
October 21, 2018: Clinical & Experimental Ophthalmology
https://read.qxmd.com/read/30338117/association-of-plasma-nitrite-levels-with-obesity-and-metabolic-syndrome-in-the-old-order-amish
#15
F Akram, D Fuchs, M Daue, G Nijjar, A Ryan, M E Benros, O Okusaga, E Baca-Garcia, L A Brenner, C A Lowry, K A Ryan, M Pavlovich, B D Mitchell, S Snitker, T T Postolache
Objectives: Plasma nitrite is a metabolite of nitric oxide and reflects endogenous nitric oxide synthase (NOS) activity. Although plasma nitrites were previously linked with obesity and metabolic syndrome (MetS), the direction of association remains inconsistent, possibly due to sample heterogeneity. In a relatively homogeneous population, we hypothesized that nitrite levels will be positively associated with overweight/obesity and MetS. Methods: Fasting nitrite levels were measured in 116 Old Order Amish (78% women)...
October 2018: Obesity Science & Practice
https://read.qxmd.com/read/30325406/relationship-between-patient-presentation-and-morphology-of-coronary-atherosclerosis-by-quantitative-multidetector-computed-tomography
#16
Martina C de Knegt, Jesper J Linde, Andreas Fuchs, Michael H C Pham, Andreas K Jensen, Børge G Nordestgaard, Henning Kelbæk, Lars V Køber, Merete Heitmann, Gitte Fornitz, Jens D Hove, Klaus F Kofoed
Aims: Quantitative computed tomography (QCT) allows assessment of morphological features of coronary atherosclerosis. We aimed to test the hypothesis that clinical patient presentation is associated with distinct morphological features of coronary atherosclerosis. Methods and results: A total of 1652 participants, representing a spectrum of clinical risk profiles [787 asymptomatic individuals from the general population, 468 patients with acute chest pain without acute coronary syndrome (ACS), and 397 patients with acute chest pain and ACS], underwent multidetector computed tomography...
October 15, 2018: European Heart Journal Cardiovascular Imaging
https://read.qxmd.com/read/30289352/galleria-mellonella-experimental-model-for-bat-fungal-pathogen-pseudogymnoascus-destructans-and-human-fungal-pathogen-pseudogymnoascus-pannorum
#17
Beth Burgwyn Fuchs, Sudha Chaturvedi, Rodnei Dennis Rossoni, Patricia P de Barros, Fernando Torres-Velez, Eleftherios Mylonakis, Vishnu Chaturvedi
Laboratory investigations of the pathogenesis of Pseudogymnoascus destructans, the fungal causal agent of bat White Nose Syndrome (WNS), presents unique challenges due to its growth requirements (4°-15°C) and a lack of infectivity in the current disease models. Pseudogymnoascus pannorum is the nearest fungal relative of P. destructans with wider psychrophilic - physiological growth range, and ability to cause rare skin infections in humans. Our broad objectives are to create the molecular toolkit for comparative study of P...
2018: Virulence
https://read.qxmd.com/read/30281031/ocular-manifestations-of-cytomegalovirus-in-immunocompetent-hosts
#18
REVIEW
Ashlin Joye, John A Gonzales
PURPOSE OF REVIEW: This review highlights recent studies that have increasingly implicated cytomegalovirus (CMV) as a significant cause of keratouveitis and retinitis in immunocompetent hosts. RECENT FINDINGS: Molecular testing has identified that CMV infection is frequently present in cases of Posner-Schlossman and Fuchs, keratouveitis syndromes previously presumed to be idiopathic conditions. Ocular hypertension and endothelial cell loss are important complications of CMV keratouveitis and are likely mediated by viral invasion of the trabecular meshwork and corneal endothelium...
November 2018: Current Opinion in Ophthalmology
https://read.qxmd.com/read/30263146/the-effect-of-disease-modifying-therapies-on-cd62l-expression-in-multiple-sclerosis
#19
Margarete Maria Voortman, Paul Greiner, Daniel Moser, Martin Helmut Stradner, Winfried Graninger, Adrian Moser, Bernd Haditsch, Christian Enzinger, Siegrid Fuchs, Franz Fazekas, Johannes Fessler, Michael Khalil
Background: The increasing armamentarium of disease-modifying therapies in multiple sclerosis is accompanied by potentially severe adverse effects. The cell-adhesion molecule CD62L, which facilitates leukocyte extravasation, has been proposed as a predictive marker for treatment tolerability. However, pre-analytical procedures might impact test results, thereby limiting its clinical usability. Whether the immediate analysis of CD62L expression of peripheral blood mononuclear cells can aid treatment decision making is yet unclear...
July 2018: Multiple Sclerosis Journal—Experimental, Translational and Clinical
https://read.qxmd.com/read/30181091/glim-criteria-for-the-diagnosis-of-malnutrition-a-consensus-report-from-the-global-clinical-nutrition-community
#20
T Cederholm, G L Jensen, M I T D Correia, M C Gonzalez, R Fukushima, T Higashiguchi, G Baptista, R Barazzoni, R Blaauw, A Coats, A Crivelli, D C Evans, L Gramlich, V Fuchs-Tarlovsky, H Keller, L Llido, A Malone, K M Mogensen, J E Morley, M Muscaritoli, I Nyulasi, M Pirlich, V Pisprasert, M A E de van der Schueren, S Siltharm, P Singer, K Tappenden, N Velasco, D Waitzberg, P Yamwong, J Yu, A Van Gossum, C Compher
RATIONALE: This initiative is focused on building a global consensus around core diagnostic criteria for malnutrition in adults in clinical settings. METHODS: In January 2016, the Global Leadership Initiative on Malnutrition (GLIM) was convened by several of the major global clinical nutrition societies. GLIM appointed a core leadership committee and a supporting working group with representatives bringing additional global diversity and expertise. Empirical consensus was reached through a series of face-to-face meetings, telephone conferences, and e-mail communications...
September 3, 2018: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
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