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https://www.readbyqxmd.com/read/29310717/characterization-of-glycosylphosphatidylinositol-biosynthesis-defects-by-clinical-features-flow-cytometry-and-automated-image-analysis
#1
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
https://www.readbyqxmd.com/read/29194046/updates-on-the-biology-of-serotonin-and-tryptophan-hydroxylase
#2
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
https://www.readbyqxmd.com/read/29189296/long-term-outcome-after-the-acute-respiratory-distress-syndrome-different-from-general-critical-illness
#3
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
https://www.readbyqxmd.com/read/29030706/rare-adar-and-rnaseh2b-variants-and-a-type-i-interferon-signature-in-glioma-and-prostate-carcinoma-risk-and-tumorigenesis
#4
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
https://www.readbyqxmd.com/read/28887433/the-neurobeachin-like-2-protein-regulates-mast-cell-homeostasis
#5
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
https://www.readbyqxmd.com/read/28855500/retinol-saturase-coordinates-liver-metabolism-by-regulating-chrebp-activity
#6
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
https://www.readbyqxmd.com/read/28776204/efficacy-and-safety-of-argatroban-in-patients-with-acute-respiratory-distress-syndrome-and-extracorporeal-lung-support
#7
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
https://www.readbyqxmd.com/read/28554331/outcome-of-acute-respiratory-distress-syndrome-in-university-and-non-university-hospitals-in-germany
#8
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
https://www.readbyqxmd.com/read/28449491/characteristics-and-provision-of-care-of-patients-with-the-acute-respiratory-distress-syndrome-descriptive-findings-from-the-dacapo-cohort-baseline-and-comparison-with-international-findings
#9
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
https://www.readbyqxmd.com/read/28216434/human-nacht-lrr-and-pyd-domain-containing-protein-3-nlrp3-inflammasome-activity-is-regulated-by-and-potentially-targetable-through-bruton-tyrosine-kinase
#10
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
https://www.readbyqxmd.com/read/27941057/interdisciplinary-treatment-of-diabetic-foot-wounds-in-the-elderly-low-risk-of-amputations-and-mortality-and-good-chance-of-being-mobile-with-good-quality-of-life
#11
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, χ(2) = 23.06, p ⩽ 0...
January 2017: Diabetes & Vascular Disease Research
https://www.readbyqxmd.com/read/27875419/new-treatment-options-for-irritable-bowel-syndrome-with-predominant-diarrhea
#12
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
https://www.readbyqxmd.com/read/27821065/predictors-of-survival-in-critically-ill-patients-with-acute-respiratory-distress-syndrome-ards-an-observational-study
#13
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 PaO2/FiO2 and FiO2/PaO2*Pmean (oxygenation index) on mortality of ARDS patients was assessed and statistically compared...
November 8, 2016: BMC Anesthesiology
https://www.readbyqxmd.com/read/27586996/associations-between-ventilator-settings-during-extracorporeal-membrane-oxygenation-for-refractory-hypoxemia-and-outcome-in-patients-with-acute-respiratory-distress-syndrome-a-pooled-individual-patient-data-analysis-mechanical-ventilation-during-ecmo
#14
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
https://www.readbyqxmd.com/read/27557468/combination-of-sturge-weber-syndrome-and-trigonocephaly
#15
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
https://www.readbyqxmd.com/read/27402170/prospective-study-on-the-potential-of-raas-blockade-to-halt-renal-disease-in-alport-syndrome-patients-with-heterozygous-mutations
#16
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
https://www.readbyqxmd.com/read/27344988/cross-reactivity-to-fish-and-chicken-meat-a-new-clinical-syndrome
#17
A Kuehn, F Codreanu-Morel, C Lehners-Weber, V Doyen, S-A Gomez-André, F Bienvenu, J Fischer, N Ballardini, M van Hage, J-M Perotin, S Silcret-Grieu, H Chabane, F Hentges, M Ollert, C Hilger, M 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...
December 2016: Allergy
https://www.readbyqxmd.com/read/26840980/loss-of-endothelial-barrier-in-marfan-mice-mgr-mgr-results-in-severe-inflammation-after-adenoviral-gene-therapy
#18
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
https://www.readbyqxmd.com/read/26715199/catheter-interventional-treatment-of-congenital-portosystemic-venous-shunts-in-childhood
#19
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
https://www.readbyqxmd.com/read/26677970/influence-of-quality-of-care-and-individual-patient-characteristics-on-quality-of-life-and-return-to-work-in-survivors-of-the-acute-respiratory-distress-syndrome-protocol-for-a-prospective-observational-multi-centre-patient-cohort-study-dacapo
#20
MULTICENTER STUDY
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
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