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Weber christian syndrome

Christiane Graetz, Adriane Gröger, Felix Luessi, Anke Salmen, Daniela Zöller, Janine Schultz, Nelly Siller, Vinzenz Fleischer, Barbara Bellenberg, Achim Berthele, Viola Biberacher, Joachim Havla, Michael Hecker, Reinhard Hohlfeld, Carmen Infante-Duarte, Jan S Kirschke, Tania Kümpfel, Ralf Linker, Friedemann Paul, Steffen Pfeuffer, Philipp Sämann, Gerrit Toenges, Frank Weber, Uwe K Zettl, Antje Jahn-Eimermacher, Gisela Antony, Sergiu Groppa, Heinz Wiendl, Bernhard Hemmer, Mark Mühlau, Carsten Lukas, Ralf Gold, Christina M Lill, Frauke Zipp
BACKGROUND: The course of multiple sclerosis (MS) shows substantial inter-individual variability. The underlying determinants of disease severity likely involve genetic and environmental factors. OBJECTIVE: The aim of this study was to assess the impact of APOE and HLA polymorphisms as well as smoking and body mass index (BMI) in the very early MS course. METHODS: Untreated patients ( n = 263) with a recent diagnosis of relapsing-remitting (RR) MS or clinically isolated syndrome underwent standardized magnetic resonance imaging (MRI)...
March 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Georgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, Bernt Popp, Christian Büttner, Arif B Ekici, Marion Gerard, Nuria C Bramswig, Beate Albrecht, Jill Clayton-Smith, Jenny Morton, Susan Tomkins, Karen Low, Astrid Weber, Maren Wenzel, Janine Altmüller, Yun Li, Bernd Wollnik, George Hoganson, Maria-Renée Plona, Megan T Cho, Christian T Thiel, Hermann-Josef Lüdecke, Tim M Strom, Eduardo Calpena, Andrew O M Wilkie, Dagmar Wieczorek, Felix B Engel, André Reis
Variants affecting the function of different subunits of the BAF chromatin-remodelling complex lead to various neurodevelopmental syndromes, including Coffin-Siris syndrome. Furthermore, variants in proteins containing PHD fingers, motifs recognizing specific histone tail modifications, have been associated with several neurological and developmental-delay disorders. Here, we report eight heterozygous de novo variants (one frameshift, two splice site, and five missense) in the gene encoding the BAF complex subunit double plant homeodomain finger 2 (DPF2)...
February 5, 2018: American Journal of Human Genetics
Christopher D Whelan, Andre Altmann, Juan A Botía, Neda Jahanshad, Derrek P Hibar, Julie Absil, Saud Alhusaini, Marina K M Alvim, Pia Auvinen, Emanuele Bartolini, Felipe P G Bergo, Tauana Bernardes, Karen Blackmon, Barbara Braga, Maria Eugenia Caligiuri, Anna Calvo, Sarah J Carr, Jian Chen, Shuai Chen, Andrea Cherubini, Philippe David, Martin Domin, Sonya Foley, Wendy França, Gerrit Haaker, Dmitry Isaev, Simon S Keller, Raviteja Kotikalapudi, Magdalena A Kowalczyk, Ruben Kuzniecky, Soenke Langner, Matteo Lenge, Kelly M Leyden, Min Liu, Richard Q Loi, Pascal Martin, Mario Mascalchi, Marcia E Morita, Jose C Pariente, Raul Rodríguez-Cruces, Christian Rummel, Taavi Saavalainen, Mira K Semmelroch, Mariasavina Severino, Rhys H Thomas, Manuela Tondelli, Domenico Tortora, Anna Elisabetta Vaudano, Lucy Vivash, Felix von Podewils, Jan Wagner, Bernd Weber, Yi Yao, Clarissa L Yasuda, Guohao Zhang, Nuria Bargalló, Benjamin Bender, Neda Bernasconi, Andrea Bernasconi, Boris C Bernhardt, Ingmar Blümcke, Chad Carlson, Gianpiero L Cavalleri, Fernando Cendes, Luis Concha, Norman Delanty, Chantal Depondt, Orrin Devinsky, Colin P Doherty, Niels K Focke, Antonio Gambardella, Renzo Guerrini, Khalid Hamandi, Graeme D Jackson, Reetta Kälviäinen, Peter Kochunov, Patrick Kwan, Angelo Labate, Carrie R McDonald, Stefano Meletti, Terence J O'Brien, Sebastien Ourselin, Mark P Richardson, Pasquale Striano, Thomas Thesen, Roland Wiest, Junsong Zhang, Annamaria Vezzani, Mina Ryten, Paul M Thompson, Sanjay M Sisodiya
Progressive functional decline in the epilepsies is largely unexplained. We formed the ENIGMA-Epilepsy consortium to understand factors that influence brain measures in epilepsy, pooling data from 24 research centres in 14 countries across Europe, North and South America, Asia, and Australia. Structural brain measures were extracted from MRI brain scans across 2149 individuals with epilepsy, divided into four epilepsy subgroups including idiopathic generalized epilepsies (n =367), mesial temporal lobe epilepsies with hippocampal sclerosis (MTLE; left, n = 415; right, n = 339), and all other epilepsies in aggregate (n = 1026), and compared to 1727 matched healthy controls...
January 22, 2018: Brain: a Journal of Neurology
David Brenner, Rüstem Yilmaz, Kathrin Müller, Torsten Grehl, Susanne Petri, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Wolfgang Ruf, Christoph Neuwirth, Markus Weber, Susana Pinto, Kristl G Claeys, Berthold Schrank, Berit Jordan, Antje Knehr, Kornelia Günther, Annemarie Hübers, Daniel Zeller, Christian Kubisch, Sibylle Jablonka, Michael Sendtner, Thomas Klopstock, Mamede de Carvalho, Anne Sperfeld, Guntram Borck, Alexander E Volk, Johannes Dorst, Joachim Weis, Markus Otto, Joachim Schuster, Kelly Del Tredici, Heiko Braak, Karin M Danzer, Axel Freischmidt, Thomas Meitinger, Tim M Strom, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated with amyotrophic lateral sclerosis disrupt cytoskeletal function and intracellular transport, led us to hypothesize that mutations in KIF5A are also a cause of amyotrophic lateral sclerosis...
January 12, 2018: Brain: a Journal of Neurology
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N Robinson, Helenius J Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M Krawitz
BACKGROUND: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS)...
January 9, 2018: Genome Medicine
Tara Swami, H Christian Weber
PURPOSE OF REVIEW: To summarize the most recent findings relevant to the biology of serotonin (5-hydroxytryptamine; 5-HT) and the enzyme tryptophan hydroxylase (TPH) in human gastrointestinal disease. RECENT FINDINGS: Serotonin is synthesized in the central nervous system (CNS) and the gastrointestinal tract where it is secreted from enteroendocrine cells. Its biosynthesis is regulated by two isoforms of the enzyme TPH of which TPH1 is localized predominantly in gastrointestinal enteroendocrine cells...
February 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
Thomas Bein, Steffen Weber-Carstens, Christian Apfelbacher
PURPOSE OF REVIEW: To review the current research data on long-term outcome and health-related quality of life in survivors of the acute respiratory distress syndrome (ARDS) and to compare these findings with those from non-ARDS patients surviving critical illness. RECENT FINDINGS: Between 6 months and 2 years after discharge from ICU, survivors of ARDS present with substantial impairments of the levels of body function (muscle strength, walking capacity and/or physical activity (physical SF-36 score)...
February 2018: Current Opinion in Critical Care
Ulrike Beyer, Frank Brand, Helge Martens, Julia Weder, Arne Christians, Natalie Elyan, Bettina Hentschel, Manfred Westphal, Gabriele Schackert, Torsten Pietsch, Bujung Hong, Joachim K Krauss, Amir Samii, Peter Raab, Anibh Das, Claudia A Dumitru, I Erol Sandalcioglu, Oliver W Hakenberg, Andreas Erbersdobler, Ulrich Lehmann, Guido Reifenberger, Michael Weller, Martin A M Reijns, Matthias Preller, Bettina Wiese, Christian Hartmann, Ruthild G Weber
In search of novel germline alterations predisposing to tumors, in particular to gliomas, we studied a family with two brothers affected by anaplastic gliomas, and their father and paternal great-uncle diagnosed with prostate carcinoma. In this family, whole-exome sequencing yielded rare, simultaneously heterozygous variants in the Aicardi-Goutières syndrome (AGS) genes ADAR and RNASEH2B co-segregating with the tumor phenotype. AGS is a genetically induced inflammatory disease particularly of the brain, which has not been associated with a consistently increased cancer risk to date...
October 13, 2017: Acta Neuropathologica
Sebastian Drube, Randy Grimlowski, Carsten Deppermann, Julia Fröbel, Florian Kraft, Nico Andreas, David Stegner, Jan Dudeck, Franziska Weber, Mandy Rödiger, Christiane Göpfert, Julia Drube, Daniela Reich, Bernhard Nieswandt, Anne Dudeck, Thomas Kamradt
The neurobeachin-like 2 protein (Nbeal2) belongs to the family of beige and Chediak-Higashi (BEACH) domain proteins. Loss-of-function mutations in the human NBEAL2 gene or Nbeal2 deficiency in mice cause gray platelet syndrome, a bleeding disorder characterized by macrothrombocytopenia, splenomegaly, and paucity of α-granules in megakaryocytes and platelets. We found that in mast cells, Nbeal2 regulates the activation of the Shp1-STAT5 signaling axis and the composition of the c-Kit/STAT signalosome. Furthermore, Nbeal2 mediates granule formation and restricts the expression of the transcription factors, IRF8, GATA2, and MITF as well as of the cell-cycle inhibitor p27, which are essential for mast cell differentiation, proliferation, and cytokine production...
October 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
Steffi Heidenreich, Nicole Witte, Pamela Weber, Isabel Goehring, Alexander Tolkachov, Christian von Loeffelholz, Stephanie Döcke, Michael Bauer, Martin Stockmann, Andreas F H Pfeiffer, Andreas L Birkenfeld, Matthias Pietzke, Stefan Kempa, Matthias Muenzner, Michael Schupp
The liver integrates multiple metabolic pathways to warrant systemic energy homeostasis. An excessive lipogenic flux due to chronic dietary stimulation contributes to the development of hepatic steatosis, dyslipidemia and hyperglycemia. Here we show that the oxidoreductase retinol saturase (RetSat) is involved in the development of fatty liver. Hepatic RetSat expression correlates with steatosis and serum triglycerides (TGs) in humans. Liver-specific depletion of RetSat in dietary obese mice lowers hepatic and circulating TGs and normalizes hyperglycemia...
August 30, 2017: Nature Communications
Mario Menk, Philipp Briem, Björn Weiss, Martina Gassner, David Schwaiberger, Anton Goldmann, Christian Pille, Steffen Weber-Carstens
BACKGROUND: Extracorporeal membrane oxygenation (ECMO) or pumpless extracorporeal lung assist (pECLA) requires effective anticoagulation. Knowledge on the use of argatroban in patients with acute respiratory distress syndrome (ARDS) undergoing ECMO or pECLA is limited. Therefore, this study assessed the feasibility, efficacy and safety of argatroban in critically ill ARDS patients undergoing extracorporeal lung support. METHODS: This retrospective analysis included ARDS patients on extracorporeal lung support who received argatroban between 2007 and 2014 in a single ARDS referral center...
December 2017: Annals of Intensive Care
Konstantinos Raymondos, Tamme Dirks, Michael Quintel, Ulrich Molitoris, Jörg Ahrens, Thorben Dieck, Kai Johanning, Dietrich Henzler, Rolf Rossaint, Christian Putensen, Hermann Wrigge, Ralph Wittich, Maximilian Ragaller, Thomas Bein, Martin Beiderlinden, Maxi Sanmann, Christian Rabe, Jörn Schlechtweg, Monika Holler, Fernando Frutos-Vivar, Andres Esteban, Hartmut Hecker, Simone Rosseau, Vera von Dossow, Claudia Spies, Tobias Welte, Siegfried Piepenbrock, Steffen Weber-Carstens
BACKGROUND: This study investigates differences in treatment and outcome of ventilated patients with acute respiratory distress syndrome (ARDS) between university and non-university hospitals in Germany. METHODS: This subanalysis of a prospective, observational cohort study was performed to identify independent risk factors for mortality by examining: baseline factors, ventilator settings (e.g., driving pressure), complications, and care settings-for example, case volume of ventilated patients, size/type of intensive care unit (ICU), and type of hospital (university/non-university hospital)...
May 30, 2017: Critical Care: the Official Journal of the Critical Care Forum
Frank Dodoo-Schittko, Susanne Brandstetter, Magdalena Brandl, Sebastian Blecha, Michael Quintel, Steffen Weber-Carstens, Stefan Kluge, Patrick Meybohm, Caroline Rolfes, Björn Ellger, Friedhelm Bach, Tobias Welte, Thomas Muders, Kathrin Thomann-Hackner, Thomas Bein, Christian Apfelbacher
BACKGROUND: Little is known about the characteristics and real world life circumstances of ARDS (acute respiratory distress syndrome) patient populations. This knowledge is essential for transferring evidence-based therapy into routine healthcare. The aim of this study was to report socio-demographic and clinical characteristics in an unselected population of ARDS patients and to compare these results to findings from other large ARDS cohorts. METHODS: A German based cross-sectional observational study was carried out...
March 2017: Journal of Thoracic Disease
Xiao Liu, Tica Pichulik, Olaf-Oliver Wolz, Truong-Minh Dang, Andrea Stutz, Carly Dillen, Magno Delmiro Garcia, Helene Kraus, Sabine Dickhöfer, Ellen Daiber, Lisa Münzenmayer, Silke Wahl, Nikolaus Rieber, Jasmin Kümmerle-Deschner, Amir Yazdi, Mirita Franz-Wachtel, Boris Macek, Markus Radsak, Sebastian Vogel, Berit Schulte, Juliane Sarah Walz, Dominik Hartl, Eicke Latz, Stephan Stilgenbauer, Bodo Grimbacher, Lloyd Miller, Cornelia Brunner, Christiane Wolz, Alexander N R Weber
BACKGROUND: The Nod-like receptor NACHT, LRR, and PYD domain-containing protein 3 (NLRP3) and Bruton tyrosine kinase (BTK) are protagonists in innate and adaptive immunity, respectively. NLRP3 senses exogenous and endogenous insults, leading to inflammasome activation, which occurs spontaneously in patients with Muckle-Wells syndrome; BTK mutations cause the genetic immunodeficiency X-linked agammaglobulinemia (XLA). However, to date, few proteins that regulate NLRP3 inflammasome activity in human primary immune cells have been identified, and clinically promising pharmacologic targeting strategies remain elusive...
October 2017: Journal of Allergy and Clinical Immunology
Bettina Hartmann, Christian Fottner, Karin Herrmann, Tobias Limbourg, Matthias M Weber, Karlheinz Beckh
AIMS: A major proportion of patients with diabetic foot syndrome are older than 65 years. Little is known about outcomes of these elderly patients. METHODS: We analysed 245 treatment cases in an observational single-centre study for comorbidities and outcomes over a 6-month period. RESULTS: In all, 122 patients had peripheral arterial disease which was significantly increasing with age (n = 245, df = 1, χ2  = 23.06, p ⩽ 0...
January 2017: Diabetes & Vascular Disease Research
H Christian Weber
PURPOSE OF REVIEW: Irritable bowel syndrome (IBS) is a highly prevalent gastrointestinal disorder with negative impact on quality of life and it represents a substantial economic burden on healthcare cost. The medical management of IBS remains largely symptomatic. This review provides an update related to the most recently published diagnostic Rome IV criteria for IBS and clinical trial data for novel treatment modalities in IBS targeting the peripheral opioid receptors of the enteric nervous system and the gut microbiota...
February 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
Felix Balzer, Mario Menk, Jannis Ziegler, Christian Pille, Klaus-Dieter Wernecke, Claudia Spies, Maren Schmidt, Steffen Weber-Carstens, Maria Deja
BACKGROUND: Currently there is no ARDS definition or classification system that allows optimal prediction of mortality in ARDS patients. This study aimed to examine the predictive values of the AECC and Berlin definitions, as well as clinical and respiratory parameters obtained at onset of ARDS and in the course of the first seven consecutive days. METHODS: The observational study was conducted at a 14-bed intensive care unit specialized on treatment of ARDS. Predictive validity of the AECC and Berlin definitions as well as Pa O2 /Fi O2 and Fi O2 /Pa O2 *Pmean (oxygenation index) on mortality of ARDS patients was assessed and statistically compared...
November 8, 2016: BMC Anesthesiology
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...
November 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...
January 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
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