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Weber christian syndrome

Ary Serpa Neto, Matthieu Schmidt, Luciano C P Azevedo, Thomas Bein, Laurent Brochard, Gernot Beutel, Alain Combes, Eduardo L V Costa, Carol Hodgson, Christian Lindskov, Matthias Lubnow, Catherina Lueck, Andrew J Michaels, Jose-Artur Paiva, Marcelo Park, Antonio Pesenti, Tài Pham, Michael Quintel, V Marco Ranieri, Michael Ried, Roberto Roncon-Albuquerque, Arthur S Slutsky, Shinhiro Takeda, Pier Paolo Terragni, Marie Vejen, Steffen Weber-Carstens, Tobias Welte, Marcelo Gama de Abreu, Paolo Pelosi, Marcus J Schultz
PURPOSE: Extracorporeal membrane oxygenation (ECMO) is a rescue therapy for patients with acute respiratory distress syndrome (ARDS). The aim of this study was to evaluate associations between ventilatory settings during ECMO for refractory hypoxemia and outcome in ARDS patients. METHODS: In this individual patient data meta-analysis of observational studies in adult ARDS patients receiving ECMO for refractory hypoxemia, a time-dependent frailty model was used to determine which ventilator settings in the first 3 days of ECMO had an independent association with in-hospital mortality...
September 1, 2016: Intensive Care Medicine
Oliver Ristow, Christian Freudlsperger, Moritz Berger, Heidi Bächli, Jürgen Hoffmann, Michael Engel
Regarded singly, both Sturge-Weber syndrome and trigonocephaly are rare congenital disorders. The cardinal features of Sturge-Weber syndrome are facial cutaneous capillary malformation (port-wine stain), leptomeningeal angiomatosis, and glaucoma. Premature closure of the metopic suture results in trigonocephaly. However, to the best of our knowledge, the diagnosis of a combination of both Sturge-Weber syndrome and trigonocephaly has not as yet been reported. This brief clinical study thus presents a patient with the unusual findings of a Sturge-Weber syndrome and simultaneous trigonocephaly induced by premature metopic synostosis...
October 2016: Journal of Craniofacial Surgery
Johanna Stock, Johannes Kuenanz, Niklas Glonke, Joseph Sonntag, Jenny Frese, Burkhard Tönshoff, Britta Höcker, Bernd Hoppe, Markus Feldkötter, Lars Pape, Christian Lerch, Simone Wygoda, Manfred Weber, Gerhard-Anton Müller, Oliver Gross
BACKGROUND: Patients with autosomal or X-linked Alport syndrome (AS) with heterozygous mutations in type IV collagen genes have a 1-20 % risk of progressing to end-stage renal disease during their lifetime. We evaluated the long-term renal outcome of patients at risk of progressive disease (chronic kidney disease stages 1-4) with/without nephroprotective therapy. METHODS: This was a prospective, non-interventional, observational study which included data from a 4-year follow-up of AS patients with heterozygous mutations whose datasets had been included in an analysis of the 2010 database of the European Alport Registry...
July 11, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Annette Kuehn, Françoise Morel-Codreanu, Christiane Lehners-Weber, Virginie Doyen, Sylvie-Anne Gomez-André, Françoise Bienvenu, Jörg Fischer, Natalia Ballardini, Marianne van Hage, Jeanne-Marie Perotin, Sophie Silcret-Grieu, Habib Chabane, François Hentges, Markus Ollert, Christiane Hilger, Martine Morisset
BACKGROUND: Fish is one of the most allergenic foods. While clinical cross-reactivity among different fishes is a widely accepted feature of fish allergy, associations with other food allergies are not well understood. This study aims at analyzing the relevance of clinical cross-reactivity between fish and chicken meat in patients with allergy to chicken meat without sensitization to hen's eggs. METHODS: Patients with food allergy to fish and chicken meat (n = 29) or chicken meat only (n = 7) were recruited...
June 27, 2016: Allergy
Philipp Christian Seppelt, Simon Schwill, Alexander Weymann, Rawa Arif, Antje Weber, Marcin Zaradzki, Karsten Richter, Stephan Ensminger, Peter Nicholas Robinson, Andreas H Wagner, Matthias Karck, Klaus Kallenbach
OBJECTIVES: Marfan syndrome is an autosomal dominant inherited disorder of connective tissue. The vascular complications of Marfan syndrome have the biggest impact on life expectancy. The aorta of Marfan patients reveals degradation of elastin layers caused by increased proteolytic activity of matrix metalloproteinases (MMPs). In this study we performed adenoviral gene transfer of human tissue inhibitor of matrix metalloproteinases-1 (hTIMP-1) in aortic grafts of fibrillin-1 deficient Marfan mice (mgR/mgR) in order to reduce elastolysis...
2016: PloS One
Walter Knirsch, Dominik C Benz, Patrick Bühr, Daniel Quandt, Roland Weber, Christian Kellenberger, Christian P Braegger, Oliver Kretschmar
OBJECTIVES: The study aimed on the catheter interventional treatment of congenital portosystemic venous shunt (CPSVS) in childhood and the impact on vascular growth of hypoplastic portal veins. Clinical course and follow up of partial or complete closure of CPSVS are described. BACKGROUND: CPSVS is a very rare vascular malformation of the portal venous drainage resulting in potentially life threatening abdominal, pulmonary, cerebral, and cardiac complications. The anatomic type, clinical course, and diagnosis must be determined for optimal management...
June 2016: Catheterization and Cardiovascular Interventions
Susanne Brandstetter, Frank Dodoo-Schittko, Sebastian Blecha, Philipp Sebök, Kathrin Thomann-Hackner, Michael Quintel, Steffen Weber-Carstens, Thomas Bein, Christian Apfelbacher
BACKGROUND: Health-related quality of life (HRQoL) and return to work are important outcomes in critical care medicine, reaching beyond mortality. Little is known on factors predictive of HRQoL and return to work in critical illness, including the acute respiratory distress syndrome (ARDS), and no evidence exists on the role of quality of care (QoC) for outcomes in survivors of ARDS. It is the aim of the DACAPO study ("Surviving ARDS: the influence of QoC and individual patient characteristics on quality of life") to investigate the role of QoC and individual patient characteristics on quality of life and return to work...
2015: BMC Health Services Research
Marie L Weber, Dominik T Schneider, Sonja Offenmüller, Peter Kaatsch, Hagen Graf Einsiedel, Martin Benesch, Alexander Claviez, Martin Ebinger, Christof Kramm, Christian Kratz, Jennifer Lawlor, Ivo Leuschner, Susanne Merkel, Markus Metzler, Rainer Nustede, Sabine Petsch, Karl-Heinz Seeger, Paul-Gerhardt Schlegel, Meinolf Suttorp, Oliver Zolk, Ines B Brecht
INTRODUCTION: Colorectal carcinoma (CRC) is the second most common adult cancer in Germany, however, it is extremely rare in children and adolescents. In these patients, previous literature describes aggressive behavior and diagnosis at advanced stage. METHOD: Thirty-one patients with CRC age ≤ 18 years and treated between 1990 and 2012 have been identified through the structures and registries of the German Society for Pediatric Oncology and Hematology. RESULTS: The age range was 9-18 years (median 13...
April 2016: Pediatric Blood & Cancer
Stefanie Weber, Anja K Büscher, Henning Hagmann, Max C Liebau, Christian Heberle, Michael Ludwig, Sabine Rath, Martin Alberer, Antje Beissert, Martin Zenker, Peter F Hoyer, Martin Konrad, Hanns-Georg Klein, Julia Hoefele
BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is a severe cause of progressive renal disease. Genetic forms of SRNS can present with autosomal recessive or autosomal dominant inheritance. Recent studies have identified mutations in multiple podocyte genes responsible for SRNS. Improved sequencing methods (next-generation sequencing, NGS) now promise rapid mutational testing of SRNS genes. METHODS: In the present study, a simultaneous screening of ten SRNS genes in 37 SRNS patients was performed by NGS...
January 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Christoph Liebetrau, Michael Weber, Stergios Tzikas, Lars Palapies, Helge Möllmann, Gerhard Pioro, Tanja Zeller, Andres Beiras-Fernandez, Christoph Bickel, Andreas M Zeiher, Karl J Lackner, Stephan Baldus, Holger M Nef, Stefan Blankenberg, Christian W Hamm, Thomas Münzel, Till Keller
BACKGROUND: The introduction of modern troponin assays has facilitated diagnosis of acute myocardial infarction due to improved sensitivity with corresponding loss of specificity. Atrial fibrillation (AF) is associated with elevated levels of troponin. The aim of the present study was to evaluate the diagnostic performance of troponin I in patients with suspected acute coronary syndrome and chronic AF. METHODS: Contemporary sensitive troponin I was assayed in a derivation cohort of 90 patients with suspected acute coronary syndrome and chronic AF to establish diagnostic cut-offs...
2015: BMC Medicine
Felicitas Becker, Julian Schubert, Sarah Weckhuysen, Arvid Suls, Steffen Grüninger, Elisabeth Korn-Merker, Anne Hofmann-Peters, Jürgen Sperner, Helen Cross, Kerstin Hallmann, Christian E Elger, Wolfram S Kunz, René Madeleyen, Holger Lerche, Yvonne G Weber
In the recent years, several neurological syndromes related to defects of the glucose transporter type 1 (Glut1) have been descried. They include the glucose transporter deficiency syndrome (Glut1-DS) as the most severe form, the paroxysmal exertion-induced dyskinesia (PED), a form of spastic paraparesis (CSE) as well as the childhood (CAE) and the early-onset absence epilepsy (EOAE). Glut1, encoded by the gene SLC2A1, is the most relevant glucose transporter in the brain. All Glut1 syndromes respond well to a ketogenic diet (KD) and most of the patients show a rapid seizure control...
August 2015: Epilepsy Research
Dennis Lal, Ann-Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G de Kovel, Dorothée Kasteleijn-Nolst Trenité, Anja C M Sonsma, Bobby P Koeleman, Dick Lindhout, Yvonne G Weber, Holger Lerche, Claudia Kapser, Christoph J Schankin, Wolfram S Kunz, Rainer Surges, Christian E Elger, Verena Gaus, Bettina Schmitz, Ingo Helbig, Hiltrud Muhle, Ulrich Stephani, Karl M Klein, Felix Rosenow, Bernd A Neubauer, Eva M Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, Andre Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, Thomas Sander
Genetic generalised epilepsy (GGE) is the most common form of genetic epilepsy, accounting for 20% of all epilepsies. Genomic copy number variations (CNVs) constitute important genetic risk factors of common GGE syndromes. In our present genome-wide burden analysis, large (≥ 400 kb) and rare (< 1%) autosomal microdeletions with high calling confidence (≥ 200 markers) were assessed by the Affymetrix SNP 6.0 array in European case-control cohorts of 1,366 GGE patients and 5,234 ancestry-matched controls...
May 2015: PLoS Genetics
Richard Martin Sellei, Simon Johannes Hingmann, Philipp Kobbe, Christian Weber, John Edward Grice, Frauke Zimmerman, Sabine Jeromin, Frank Hildebrand, Hans-Christoph Pape
BACKGROUND: Decision-making in treatment of an acute compartment syndrome is based on clinical assessment, supported by invasive monitoring. Thus, evolving compartment syndrome may require repeated pressure measurements. In suspected cases of potential compartment syndromes clinical assessment alone seems to be unreliable. The objective of this study was to investigate the feasibility of a non-invasive application estimating whole compartmental elasticity by ultrasound, which may improve accuracy of diagnostics...
2015: Patient Safety in Surgery
Johannes Dorst, Luc Dupuis, Susanne Petri, Katja Kollewe, Susanne Abdulla, Joachim Wolf, Markus Weber, David Czell, Christian Burkhardt, Frank Hanisch, Stefan Vielhaber, Thomas Meyer, Gabriele Frisch, Dagmar Kettemann, Torsten Grehl, Bertold Schrank, Albert C Ludolph
Weight loss is increasingly considered as a negative prognostic marker in amyotrophic lateral sclerosis (ALS). Despite the critical importance of nutritional issues in ALS, and the common use of percutaneous endoscopic gastrostomy (PEG), there is a general lack of knowledge on peri-interventional treatment, optimal parameters of enteral nutrition, its timing during disease progression and its potential disease-modifying effects in ALS patients. Here we report the results of a multi-center prospective study of percutaneous endoscopic gastrostomy (PEG) in ALS...
2015: Journal of Neurology
Sabine Schmid, Silke Gillessen, Isabelle Binet, Michael Brändle, Daniel Engeler, Jeannette Greiner, Claudia Hader, Karl Heinimann, Patrik Kloos, Willy Krek, Ina Krull, Sandro J Stoeckli, Michael C Sulz, Karin van Leyen, Johannes Weber, Christian Rothermundt, Thomas Hundsberger
Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumour predisposition syndrome with an incidence of 1:36,000 newborns, the estimated prevalence in Europe is about 1-9/100,000. It is associated with an increased risk of developing various benign and malignant tumours, thus affecting multiple organs at different time points in the life of a patient. Disease severity and diversity as well as age at first symptoms vary considerably, and diagnostic delay due to failure of recognition is a relevant issue...
2014: Oncology Research and Treatment
Kerstin Hallmann, Gábor Zsurka, Susanna Moskau-Hartmann, Janbernd Kirschner, Rudolf Korinthenberg, Ann-Kathrin Ruppert, Ozkan Ozdemir, Yvonne Weber, Felicitas Becker, Holger Lerche, Christian E Elger, Holger Thiele, Peter Nürnberg, Thomas Sander, Wolfram S Kunz
OBJECTIVE: We report a consanguineous family with 2 affected individuals whose clinical symptoms closely resembled MERRF (myoclonus epilepsy with ragged red fibers) syndrome including severe myoclonic epilepsy, progressive spastic tetraparesis, progressive impairment of vision and hearing, as well as progressive cognitive decline. METHODS: After excluding the presence of pathogenic mitochondrial DNA mutations, whole-exome sequencing of blood DNA from the index patient was performed...
December 2, 2014: Neurology
Helen M Stuart, Neil A Roberts, Emma N Hilton, Edward A McKenzie, Sarah B Daly, Kristen D Hadfield, Jeffery S Rahal, Natalie J Gardiner, Simon W Tanley, Malcolm A Lewis, Emily Sites, Brad Angle, Cláudia Alves, Teresa Lourenço, Márcia Rodrigues, Angelina Calado, Marta Amado, Nancy Guerreiro, Inês Serras, Christian Beetz, Rita-Eva Varga, Mesrur Selcuk Silay, John M Darlow, Mark G Dobson, David E Barton, Manuela Hunziker, Prem Puri, Sally A Feather, Judith A Goodship, Timothy H J Goodship, Heather J Lambert, Heather J Cordell, Anand Saggar, Maria Kinali, Christian Lorenz, Kristina Moeller, Franz Schaefer, Aysun K Bayazit, Stefanie Weber, William G Newman, Adrian S Woolf
Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs. HPSE2 mutations were absent in 23 non-neurogenic neurogenic bladder probands and, of 439 families with nonsyndromic vesicoureteric reflux, only one carried a putative pathogenic HPSE2 variant...
April 2015: Journal of the American Society of Nephrology: JASN
Ilze Bot, Isabelle T M N Daissormont, Alma Zernecke, Gijs H M van Puijvelde, Birgit Kramp, Saskia C A de Jager, Judith C Sluimer, Marco Manca, Veronica Hérias, Marijke M Westra, Martine Bot, Peter J van Santbrink, Theo J C van Berkel, Lishan Su, Mona Skjelland, Lars Gullestad, Johan Kuiper, Bente Halvorsen, Paul Aukrust, Rory R Koenen, Christian Weber, Erik A L Biessen
AIMS: The SDF-1α/CXCR4 dyad was previously shown by us and others to be instrumental in intimal hyperplasia as well as early stage atherosclerosis. We here sought to investigate its impact on clinically relevant stages of atherosclerosis in mouse and man. METHODS AND RESULTS: Immunohistochemical analysis of CXCR4 expression in human atherosclerotic lesions revealed a progressive accumulation of CXCR4(+) cells during plaque progression. To address causal involvement of CXCR4 in advanced stages of atherosclerosis we reconstituted LDLr(-/-) mice with autologous bone marrow infected with lentivirus encoding SDF-1α antagonist or CXCR4 degrakine, which effects proteasomal degradation of CXCR4...
September 2014: Journal of Molecular and Cellular Cardiology
Jason Schnack, Aarti Mittal, Ching-Fei Chang
SESSION TITLE: Infectious Disease Case Report Posters ISESSION TYPE: Case Report PosterPRESENTED ON: Sunday, March 23, 2014 at 01:15 PM - 02:15 PMINTRODUCTION: MonoMAC is a rare syndrome characterized by a haplodeficiency of GATA2 gene products resulting in monocytopenia, B-cell and NK-cell lymphopenia, and an increased susceptibility to atypical infections1 Since its discovery in 2010, there have been only 28 other cases described in the literature. The lack of widespread familiarity with this disease impedes early identification and often leads to mistreatment with near-fatal consequences...
March 1, 2014: Chest
Florian Amtage, Sabine Hellwig, Annabelle Kreft, Timo Spehl, Volkmar Glauche, Christian Winkler, Michel Rijntjes, Bernhard Hellwig, Cornelius Weiller, Wolfgang A Weber, Oliver Tüscher, Philipp Tobias Meyer
PURPOSE: Progressive supranuclear palsy (PSP) is characterized by a symmetric hypokinetic syndrome with early falls and vertical supranuclear gaze palsy. However, clinically asymmetric manifestations occur, resembling idiopathic Parkinson disease or corticobasal degeneration. The aim of this study was to determine the neuronal correlates of patients suffering from PSP with a lateralized disease manifestation (hemi-PSP) in comparison to patients with symmetric clinical presentation (symPSP) and corticobasal degeneration...
April 2014: Clinical Nuclear Medicine
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