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fuchs syndrome

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
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
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
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
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
Mohammad Zarei, Ali Abdollahi, Sahel Darabeigi, Nazanin Ebrahimiadib, Ramak Roohipoor, Hamed Ghassemi, Reza Soltani Moghaddam, Masoud Aghsaei Fard
PURPOSE: To investigate optic nerve head involvement in patients with Fuchs uveitis syndrome (FUS). METHODS: Optic nerve head of 43 FUS eyes without clinical optic disc edema and 37 unaffected fellow eyes were evaluated using optical coherence tomography (OCT) of peripapillary retina and retinal nerve fiber layer (RNFL) and fundus fluorescein angiography. RESULTS: Seventy-one percent of FUS eyes showed optic nerve head hyperfluorescence. The mean average RNFL thickness in FUS eyes was 115...
September 3, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
Gordon L Jensen, Tommy Cederholm, M Isabel T D Correia, M Christina Gonzalez, Ryoji Fukushima, Takashi Higashiguchi, Gertrudis Adrianza de Baptista, Rocco Barazzoni, Renée Blaauw, Andrew J S Coats, Adriana Crivelli, David C Evans, Leah Gramlich, Vanessa Fuchs-Tarlovsky, Heather Keller, Luisito Llido, Ainsley Malone, Kris M Mogensen, John E Morley, Maurizio Muscaritoli, Ibolya Nyulasi, Matthias Pirlich, Veeradej Pisprasert, Marian de van der Schueren, Soranit Siltharm, Pierre Singer, Kelly A Tappenden, Nicolas Velasco, Dan L Waitzberg, Preyanuj Yamwong, Jianchun Yu, Charlene Compher, Andre Van Gossum
BACKGROUND: This initiative aims to build a global consensus around core diagnostic criteria for malnutrition in adults in clinical settings. METHODS: The Global Leadership Initiative on Malnutrition (GLIM) was convened by several of the major global clinical nutrition societies. Empirical consensus was reached through a series of face-to-face meetings, telephone conferences, and e-mail communications. RESULTS: A 2-step approach for the malnutrition diagnosis was selected, that is, first screening to identify at risk status by the use of any validated screening tool, and second, assessment for diagnosis and grading the severity of malnutrition...
September 2, 2018: JPEN. Journal of Parenteral and Enteral Nutrition
Batsukh Dorjbal, Jeffrey R Stinson, Chi A Ma, Michael A Weinreich, Bahar Miraghazadeh, Julia M Hartberger, Stefanie Frey-Jakobs, Stephan Weidinger, Lena Moebus, Andre Franke, Alejandro A Schäffer, Alla Bulashevska, Sebastian Fuchs, Stephan Ehl, Sandhya Limaye, Peter D Arkwright, Tracy A Briggs, Claire Langley, Claire Bethune, Andrew F Whyte, Hana Alachkar, Sergey Nejentsev, Thomas DiMaggio, Celeste G Nelson, Kelly D Stone, Martha Nason, Erica H Brittain, Andrew J Oler, Daniel P Veltri, T Ronan Leahy, Niall Conlon, Maria C Poli, Arturo Borzutzky, Jeffrey I Cohen, Joie Davis, Michele P Lambert, Neil Romberg, Kathleen E Sullivan, Kenneth Paris, Alexandra F Freeman, Laura Lucas, Shanmuganathan Chandrakasan, Sinisa Savic, Sophie Hambleton, Smita Y Patel, Michael B Jordan, Amy Theos, Jeffrey Lebensburger, T Prescott Atkinson, Troy R Torgerson, Ivan K Chinn, Joshua D Milner, Bodo Grimbacher, Matthew C Cook, Andrew L Snow
BACKGROUND: Caspase activation and recruitment domain 11 (CARD11) encodes a scaffold protein in lymphocytes that links antigen receptor engagement with downstream signaling to nuclear factor κB, c-Jun N-terminal kinase, and mechanistic target of rapamycin complex 1. Germline CARD11 mutations cause several distinct primary immune disorders in human subjects, including severe combined immune deficiency (biallelic null mutations), B-cell expansion with nuclear factor κB and T-cell anergy (heterozygous, gain-of-function mutations), and severe atopic disease (loss-of-function, heterozygous, dominant interfering mutations), which has focused attention on CARD11 mutations discovered by using whole-exome sequencing...
August 28, 2018: Journal of Allergy and Clinical Immunology
Matthew B Yurgelun, Anu B Chittenden, Vicente Morales-Oyarvide, Douglas A Rubinson, Richard F Dunne, Margaret M Kozak, Zhi Rong Qian, Marisa W Welch, Lauren K Brais, Annacarolina Da Silva, Justin L Bui, Chen Yuan, Tingting Li, Wanwan Li, Atsuhiro Masuda, Mancang Gu, Andrea J Bullock, Daniel T Chang, Thomas E Clancy, David C Linehan, Jennifer J Findeis-Hosey, Leona A Doyle, Aaron R Thorner, Matthew D Ducar, Bruce M Wollison, Natalia Khalaf, Kimberly Perez, Sapna Syngal, Andrew J Aguirre, William C Hahn, Matthew L Meyerson, Charles S Fuchs, Shuji Ogino, Jason L Hornick, Aram F Hezel, Albert C Koong, Jonathan A Nowak, Brian M Wolpin
PURPOSE: Germline variants in double-strand DNA damage repair (dsDDR) genes (e.g., BRCA1/2) predispose to pancreatic adenocarcinoma (PDAC) and may predict sensitivity to platinum-based chemotherapy and poly(ADP) ribose polymerase (PARP) inhibitors. We sought to determine the prevalence and significance of germline cancer susceptibility gene variants in PDAC with paired somatic and survival analyses. METHODS: Using a customized next-generation sequencing panel, germline/somatic DNA was analyzed from 289 patients with resected PDAC ascertained without preselection for high-risk features (e...
July 2, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Andreas F Borkenstein, Eva-Maria Borkenstein
The co-occurence of 5 diseases (cataract, Fuchs dystrophy, pseudoexfoliation syndrome, age-related macular degeneration and dry eye syndrome) can lead to massive impairment of visual acuity. Our case series show that cataract surgery can lead to an enormous profit in visual rehabilitation and therefore in daily routine.
August 2018: Klinische Monatsblätter Für Augenheilkunde
Dominika Pohlmann, Stephan Schlickeiser, Sylvia Metzner, Matthias Lenglinger, Sibylle Winterhalter, Uwe Pleyer
Posner-Schlossman-Syndrome (PSS) is clinically characterized by acute, recurrent, mild, unilateral uveitis anterior accompanied by elevated intraocular pressure (IOP). Fuchs´ Uveitis (FU) is a chronic, low-grade-inflammatory disorder, involving anterior uvea and vitreous. The clinical findings show remarkable similarities as well as differences. In our study, we determine the composition of immune mediators in aqueous humor of patients with PSS and FU and evaluate if immune mediators play a crucial role in specific viral intraocular inflammation and IOP rises...
2018: PloS One
Nicolas Cesário Pereira, Evandro Ribeiro Diniz, Ramon Coral Ghanem, Ruy Cunha Filho, Tatiana Moura Prazeres, Walton Nose, Adriana Dos Santos Forseto
PURPOSE: This report describes the use of Descemet membrane endothelial keratoplasty for the management of endothelial decompensation after multifocal intraocular lens implantation. METHODS: In this retrospective study, we reviewed and assessed the surgical outcomes of 9 patients (9 eyes) who underwent Descemet membrane endothelial keratoplasty after multifocal intraocular lens implantation. RESULTS: Corneal edema occurred due to Fuchs endothelial corneal dystrophy (n=3), pseudophakic bullous keratopathy (n=3), Descemet's membrane detachment (n=2), and toxic anterior segment syndrome (n=1)...
June 2018: Arquivos Brasileiros de Oftalmologia
Brendan J Kelly, Ebbing Lautenbach, Irving Nachamkin, Susan E Coffin, Jeffrey S Gerber, Barry D Fuchs, Charles Garrigan, Xiaoyan Han, Warren B Bilker, Jacqueleen Wise, Pam Tolomeo, Jennifer H Han
OBJECTIVES: Sepsis is associated with high early and total in-hospital mortality. Despite recent revisions in the diagnostic criteria for sepsis that sought to improve predictive validity for mortality, it remains difficult to identify patients at greatest risk of death. We compared the utility of nine biomarkers to predict mortality in subjects with clinically suspected bacterial sepsis. DESIGN: Cohort study. SETTING: The medical and surgical ICUs at an academic medical center...
July 2018: Critical Care Medicine
Alexander Johannes Martinus Dingemans, Carlos Albert Reck-Burneo, Molly Fuchs, Alejandra Vilanova Sanchez, Victoria Alison Lane, Erin Hoover, Tassiana Maloof, Laura Weaver, Marc A Levitt, Richard J Wood
INTRODUCTION:  Previous research in children with Hirschsprung's disease (HD) and Down's syndrome (DS) has focused on colorectal outcomes. We set out to review urinary outcomes in this patient group. METHODS:  The medical records of all patients aged five years and older with HD were reviewed, and patients and caregivers filled out the Vancouver Symptom Score at intake, which is designed and validated to diagnose dysfunctional elimination syndrome. RESULTS:  A total of 104 patients with HD were included in this study...
June 17, 2018: European Journal of Pediatric Surgery
Shannon R McCurdy, Stephen T Muth, Hua-Ling Tsai, Heather J Symons, Carol Ann Huff, William H Matsui, Ivan Borrello, Douglas E Gladstone, Lode J Swinnen, Kenneth R Cooke, Robert A Brodsky, Javier Bolaños-Meade, Richard F Ambinder, Ravi Varadhan, Leo Luznik, Richard J Jones, Maria P Bettinot, Ephraim J Fuchs
Noninfectious fevers are common early after T cell-replete HLA haploidentical (haplo) peripheral blood transplants and have been associated with cytokine release syndrome and overall mortality. However, less is known regarding the incidence and associations of early fever after bone marrow transplantation (BMT) with post-transplant cyclophosphamide (PTCy). We hypothesized that early fever would be associated with myeloablative conditioning (MAC), because of its relative increase in tissue damage augmenting antigen presentation and class II HLA-mismatching because of recognition of antigen-presenting cells by CD4+ T cells...
June 15, 2018: Biology of Blood and Marrow Transplantation
Diego Marcos-Pérez, María Sánchez-Flores, Ana Maseda, Laura Lorenzo-López, José C Millán-Calenti, Johanna M Gostner, Dietmar Fuchs, Eduardo Pásaro, Blanca Laffon, Vanessa Valdiglesias
Frailty denotes a multidimensional syndrome that gives rise to vulnerability to stressors and leads to an increase of the age-related decline of different physiological systems and cognitive abilities. Aging-related alterations of the immune system may compromise its competence culminating in a chronic low-grade inflammation state. Thus, it has been proposed that frailty is associated with alterations in the concentration of pro-inflammatory molecules and in different lymphocyte subpopulations. To provide further support to the validity of that hypothesis, we conducted a cross-sectional study in a population of Spanish older adults ( N  = 259, aged 65 and over) classified according to their frailty status...
2018: Frontiers in Immunology
Daniel A Maranho, Kathryn Fuchs, Young-Jo Kim, Eduardo N Novais
The incidence of hip instability in children with Down syndrome is 1% to 7%. The natural history is often progressive, with the typical onset of hypermobility of the hip evolving to habitual dislocation, persistent subluxation, and fixed dislocation, and eventually leading to the loss of independent mobility. Treatment focuses on stabilizing the hip joint and depends on the patient's age and the severity of the disease. Typically, surgical intervention is recommended for the treatment of patients with habitual dislocation, subluxation, and complete dislocation of the hip...
July 1, 2018: Journal of the American Academy of Orthopaedic Surgeons
Paola Cura Daball, Monica Sofia Ventura Ferreira, Sandra Ammann, Christian Klemann, Myriam R Lorenz, Ursula Warthorst, Timothy Ronan Leahy, Niall Conlon, Justin Roche, Pere Soler-Palacín, Marina Garcia-Prat, Ilka Fuchs, Sebastian Fuchs, Fabian Beier, Tim H Brümmendorf, Carsten Speckmann, Peter Olbrich, Olaf Neth, Klaus Schwarz, Stephan Ehl, Anne Rensing-Ehl
Premature T-cell immunosenescence with CD57+ CD8+ T-cell accumulation has been linked to immunodeficiency and autoimmunity in primary immunodeficiencies including activated PI3 kinase delta syndrome (APDS). To address whether CD57 marks the typical senescent T-cell population seen in adult individuals or identifies a distinct population in APDS, we compared CD57+ CD8+ T cells from mostly pediatric APDS patients to those of healthy adults with similarly prominent senescent T cells. CD57+ CD8+ T cells from APDS patients were less differentiated with more CD27+ CD28+ effector memory T cells showing increased PD1 and Eomesodermin expression...
May 23, 2018: Immunology and Cell Biology
Amélie Delabaere, France Leduc, Quentin Reboul, Florent Fuchs, Sandrine Wavrant, Johanne Dubé, Jean-Claude Fouron, François Audibert
OBJECTIVE: To determine the prognostic value of fetal Doppler and echocardiographic parameters for intrauterine fetal demise (IUFD) within 24 hours and within 1 week after laser coagulation in monochorionic pregnancies complicated by twin-twin transfusion syndrome. METHOD: This retrospective study correlated the preoperative hemodynamic and echocardiography parameters to the outcome in fetuses with twin-twin transfusion syndrome undergoing laser therapy. RESULTS: One hundred and twelve laser coagulations were performed between February 2006 and June 2015...
June 2018: Prenatal Diagnosis
Obed Solís-Martínez, Valentina Plasa-Carvalho, Geraldine Phillips-Sixtos, Yanelly Trujillo-Cabrera, Arturo Hernández-Cuellar, Gloria E Queipo-García, Eduardo Meaney-Mendiolea, Guillermo M Ceballos-Reyes, Vanessa Fuchs-Tarlovsky
INTRODUCTION: Head and neck cancer patients are at high risk of anorexia-cachexia syndrome and literature shows that Eicosapentaenoic acid (EPA) could regulate it. We aim to determine the EPA effect on body composition and pro-inflammatory markers in patients with head neck cancer. MATERIALS AND METHODS: A randomized single-blind placebo-controlled clinical trial was conducted in patients with head and neck squamous cell cancer who received a polymeric diet with 2 g of EPA or a standard polymeric diet for six weeks before antineoplastic treatment...
May 2018: Nutrition and Cancer
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