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https://www.readbyqxmd.com/read/28537398/discovery-of-clinical-candidate-2-2s-6s-2-phenyl-6-hydroxyadamantan-2-yl-1-3-hydroxyazetidin-1-yl-ethanone-bms-816336-an-orally-active-novel-selective-11%C3%AE-hydroxysteroid-dehydrogenase-type-1-inhibitor
#1
Xiang-Yang Ye, Stephanie Y Chen, Shung Wu, David S Yoon, Haixia Wang, Zhenqiu Hong, Stepen P O'Connor, Jun Li, James J Li, Lawrence L Kennedy, Steven J Walker, Akbar Nayeem, Steven Sheriff, Daniel M Camac, Vidyhashankar Ramamurthy, Paul E Morin, Rachel Zebo, Joseph R Taylor, Nathan N Morgan, Randolph P Ponticiello, Thomas Harrity, Atsu Apedo, Rajasree Golla, Ramakrishna Seethala, Mengmeng Wang, Timothy W Harper, Bogdan G Sleczka, Bin He, Mark Kirby, David K Leahy, Jianqing Li, Ronald L Hanson, Zhiwei Guo, Yi-Xin Li, John D DiMarco, Raymond Scaringe, Brad D Maxwell, Frederick Moulin, Joel C Barrish, David A Gordon, Jeffrey A Robl
BMS-816336 (6n-2), a hydroxyl-substituted adamantyl acetamide, has been identified as a novel, potent inhibitor against human 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) enzyme (IC50 3.0 nM) with >10000 fold selectivity over human 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2). BMS-816336 exhibits a robust acute pharmacodynamic effects in cynomolgus monkeys (ED50 0.13 mpk) and in DIO mice. It is orally bioavailable (%F ranges from 20-72% in preclinical species) and has a predicted pharmacokinetic profile of a high peak to trough ratio and short half-life in humans...
May 24, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28534737/integration-of-tmc1-2-into-the-mechanotransduction-complex-in-zebrafish-hair-cells-is-regulated-by-transmembrane-o-methyltransferase-tomt
#2
Timothy Erickson, Clive P Morgan, Jennifer Olt, Katherine Hardy, Elisabeth M Busch-Nentwich, Reo Maeda, Rachel Clemens-Grisham, Jocelyn F Krey, Alex V Nechiporuk, Peter G Barr-Gillespie, Walter Marcotti, Teresa Nicolson
Transmembrane O-methyltransferase (TOMT / LRTOMT) is responsible for non-syndromic deafness DFNB63. However, the specific defects that lead to hearing loss have not been described. Using a zebrafish model of DFNB63, we show that the auditory and vestibular phenotypes are due to a lack of mechanotransduction (MET) in Tomt-deficient hair cells. GFP-tagged Tomt is enriched in the Golgi of hair cells, suggesting that Tomt might regulate the trafficking of other MET components to the hair bundle. We found that Tmc1/2 proteins are specifically excluded from the hair bundle in tomt mutants, whereas other MET complex proteins can still localize to the bundle...
May 23, 2017: ELife
https://www.readbyqxmd.com/read/28501645/targeted-sequencing-identifies-novel-variants-involved-in-autosomal-recessive-hereditary-hearing-loss-in-qatari-families
#3
Moza K Alkowari, Diego Vozzi, Shruti Bhagat, Navaneethakrishnan Krishnamoorthy, Anna Morgan, Yousra Hayder, Barathy Logendra, Nehal Najjar, Ilaria Gandin, Paolo Gasparini, Ramin Badii, Giorgia Girotto, Khalid Abdulhadi
Hereditary hearing loss is characterized by a very high genetic heterogeneity. In the Qatari population the role of GJB2, the worldwide HHL major player, seems to be quite limited compared to Caucasian populations. In this study we analysed 18 Qatari families affected by non-syndromic hearing loss using a targeted sequencing approach that allowed us to analyse 81 genes simultaneously. Thanks to this approach, 50% of these families (9 out of 18) resulted positive for the presence of likely causative alleles in 6 different genes: CDH23, MYO6, GJB6, OTOF, TMC1 and OTOA...
May 4, 2017: Mutation Research
https://www.readbyqxmd.com/read/28491338/setting-new-directions-for-research-in-childhood-nephrotic-syndrome-results-from-a-national-workshop
#4
Susan M Samuel, Tomoko Takano, Shannon Scott, Genevieve Benoit, Martin Bitzan, Cherry Mammen, Laurel Ryan, Catherine Morgan
BACKGROUND: We report on the proceedings of a national workshop held in Canada with the aims to identify priorities for research in childhood nephrotic syndrome and to develop a national strategy to address these priorities. METHODS: A diverse group of participants attended the meeting, including patients, family members, researchers, and health care providers. We used small group discussions to explore priorities as perceived by patients and families and by health care providers and researchers...
2017: Canadian Journal of Kidney Health and Disease
https://www.readbyqxmd.com/read/28437058/psychotic-and-bipolar-disorders-antipsychotic-drugs
#5
Sarah D Holder, Alaina L Edmunds, Sherri Morgan
Antipsychotic drugs block dopamine receptors and are used to manage psychosis as well as other mental illnesses that may or may not have psychotic features, such as bipolar disorders and major depressive disorder. First-generation antipsychotic drugs are more likely to cause adverse effects such as extrapyramidal symptoms and tardive dyskinesia. Adverse effects of second-generation antipsychotic drugs typically are related to metabolic abnormalities such as weight gain, abnormal blood glucose levels, and elevated lipid levels...
April 2017: FP Essentials
https://www.readbyqxmd.com/read/28424185/very-long-chain-%C3%AF-3-fatty-acid-supplements-and-adipose-tissue-functions-a-randomized-controlled-trial
#6
Kazanna C Hames, Maria Morgan-Bathke, Debra A Harteneck, Lendia Zhou, John D Port, Ian R Lanza, Michael D Jensen
Background: Increased omega-3 (n-3) fatty acid consumption is reported to benefit patients with metabolic syndrome, possibly due to improved adipose tissue function.Objective: We tested the effects of high-dose, very-long-chain ω-3 fatty acids on adipose tissue inflammation and insulin regulation of lipolysis.Design: A double-blind, placebo-controlled study compared 6 mo of 3.9 g eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA)/d (4.2 g total ω-3/d; n = 12) with a placebo (4.2 g oleate/d; n = 9) in insulin-resistant adults...
April 19, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28399931/pilot-study-comparing-the-childhood-arthritis-rheumatology-research-alliance-carra-systemic-juvenile-idiopathic-arthritis-consensus-treatment-plans
#7
Yukiko Kimura, Sriharsha Grevich, Timothy Beukelman, Esi Morgan, Peter A Nigrovic, Kelly Mieszkalski, T Brent Graham, Maria Ibarra, Norman Ilowite, Marisa Klein-Gitelman, Karen Onel, Sampath Prahalad, Marilynn Punaro, Sarah Ringold, Dana Toib, Heather Van Mater, Jennifer E Weiss, Pamela F Weiss, Laura E Schanberg
OBJECTIVES: To assess the feasibility of studying the comparative effectiveness of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) consensus treatment plans (CTPs) for systemic Juvenile Idiopathic Arthritis (JIA) using an observational registry. METHODS: Untreated systemic JIA patients enrolled in the CARRA Registry were begun on one of 4 CTPs chosen by the treating physician and patient/family (glucocorticoid [GC] alone; methotrexate [MTX] ± GC; IL1 inhibitor [IL1i] ± GC; IL6 inhibitor [IL6i] ± GC)...
April 11, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28366715/twenty-years-of-anesthetic-and-perioperative-management-of-patients-with-tetralogy-of-fallot-with-absent-pulmonary-valve
#8
John D Jochman, Douglas B Atkinson, Luis G Quinonez, Morgan L Brown
OBJECTIVE: Review the authors' institutional experience of the induction and perioperative airway management of children with tetralogy of Fallot with an absent pulmonary valve. DESIGN: Retrospective chart review. SETTING: Large academic children's hospital. PARTICIPANTS: Patients with the diagnosis of tetralogy of Fallot with absent pulmonary valve undergoing primary cardiac repair over a 20-year period. INTERVENTIONS: None...
February 4, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28349221/total-artificial-heart-implantation-for-biventricular-failure-due-to-eosinophilic-myocarditis
#9
Masashi Kawabori, Chitaru Kurihara, Yair Miller, Kent A Heck, Roberta C Bogaev, Andrew B Civitello, William E Cohn, O H Frazier, Jeffrey A Morgan
Idiopathic hypereosinophilic syndrome is a condition of unknown etiology characterized by proliferation of eosinophils and their infiltration into tissues. Although cardiac involvement is rare, eosinophilic myocarditis can lead to life-threating fulminant congestive heart failure. Treatment of patients with eosinophilic myocarditis is challenging as heart failure can be caused by biventricular dysfunction. To our knowledge, this is the first case reported in the literature describing a patient with acute severe biventricular heart failure caused by eosinophilic myocarditis with mural left ventricular apical thrombus who was successfully treated with implantation of a total artificial heart as a bridge to heart transplant...
March 27, 2017: Journal of Artificial Organs: the Official Journal of the Japanese Society for Artificial Organs
https://www.readbyqxmd.com/read/28329154/brugada-syndrome-induced-by-braf-and-mek-inhibitors-in-a-melanoma-patient
#10
Charlée Nardin, Morgane Colas, Marc Badoz, Blandine Roche-Kubler, Nicolas Meneveau, Eve Puzenat, François Aubin
No abstract text is available yet for this article.
March 18, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28301459/blepharocheilodontic-syndrome-is-a-cdh1-pathway-related-disorder-due-to-mutations-in-cdh1-and-ctnnd1
#11
Jamal Ghoumid, Morgane Stichelbout, Anne-Sophie Jourdain, Frederic Frenois, Sophie Lejeune-Dumoulin, Marie-Pierre Alex-Cordier, Marine Lebrun, Pierre Guerreschi, Veronique Duquennoy-Martinot, Matthieu Vinchon, Joel Ferri, Matthieu Jung, Serge Vicaire, Clemence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier-Hanu
PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown. METHODS: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families. RESULTS: We identified five CDH1 heterozygous missense mutations and three CTNND1 heterozygous truncating mutations leading to loss-of-function or haploinsufficiency...
March 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28284916/infusion-of-mesenchymal-stromal-cells-after-deceased-liver-transplantation-a-phase-i-ii-open-label-clinical-study
#12
Olivier Detry, Morgan Vandermeulen, Marie-Hélène Delbouille, Joan Somja, Noella Bletard, Alexandra Briquet, Chantal Lechanteur, Olivier Giet, Etienne Baudoux, Muriel Hannon, Frederic Baron, Yves Beguin
BACKGROUND & AIM: Mesenchymal stromal cell (MSC) infusion could be a mean to establish tolerance in solid organ recipients. The aim of this prospective, controlled, phase-1 study was to evaluate the feasibility, safety and tolerability of a single infusion of MSCs in liver transplant recipients. METHODS: Ten liver transplant recipients under standard immunosuppression received 1.5-3x10(6)/kg third-party unrelated MSCs on post-operative day 3±2, and were prospectively compared to a control group of 10 liver transplant recipients...
March 8, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28275556/selective-arterial-embolization-of-symptomatic-and-asymptomatic-renal-angiomyolipomas-a-retrospective-study-of-safety-outcomes-and-tumor-size-reduction
#13
Florian Bardin, Olivier Chevallier, Aurélie Bertaut, Emmanuel Delorme, Morgan Moulin, Pierre Pottecher, Lucy Di Marco, Sophie Gehin, Eric Mourey, Luc Cormier, Christiane Mousson, Marco Midulla, Romaric Loffroy
BACKGROUND: Angiomyolipoma (AML) is the most common renal benign tumor. Treatment should be considered for symptomatic patients or for those at risk for complications, especially retroperitoneal bleeding which is correlated to tumor size, grade of the angiogenic component and to the presence of tuberous sclerosis complex (TSC). This study reports our single-center experience with the use of selective arterial embolization (SAE) in the management of symptomatic and asymptomatic renal AMLs...
February 2017: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/28256347/right-coronary-dissection-and-left-anterior-descending-thrombus-dual-dilemma-in-a-young-cardiac-arrest-survivor
#14
Holly Morgan, Michael McCann, Alan Whelan, Richard Clugston
BACKGROUND: ST-elevation myocardial infarction (STEMI) leading to cardiac arrest is an exceptionally rare occurrence in young adults. Those affected tend to abuse sympathomimetic drugs, have strong family histories, or have a significant burden of cardiac risk factors. Another uncommon cause of STEMI is coronary artery dissection, which overwhelmingly affects middle- and older-aged women with few cardiac risk factors. CASE REPORT: A 22-year-old athlete with no medical history was admitted to our institution post-cardiac arrest with an anterior STEMI and concomitant right coronary dissection...
February 27, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28242803/antithyroid-arthritis-syndrome
#15
Anar Modi, Hari Amin, Farah Morgan
Antithyroid arthritis syndrome is a constellation of symptoms of myalgia, arthralgia, arthritis, fever and rash associated with the use of antithyroid medications. We report a case of a patient with severe hyperthyroidism likely secondary to Graves' disease who presented with the abovementioned symptoms after being treated with methimazole (antithyroid medication). Our aim is to increase awareness regarding this uncommon but disabilitating and life-threatening adverse effect of antithyroid medications among clinicians...
February 27, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28216087/neural-consequences-of-post-exertion-malaise-in-myalgic-encephalomyelitis-chronic-fatigue-syndrome
#16
Dane B Cook, Alan R Light, Kathleen C Light, Gordon Broderick, Morgan R Shields, Ryan J Dougherty, Jacob D Meyer, Stephanie VanRiper, Aaron J Stegner, Laura D Ellingson, Suzanne D Vernon
Post exertion malaise is one of the most debilitating aspects of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, yet the neurobiological consequences are largely unexplored. The objective of the study was to determine the neural consequences of acute exercise using functional brain imaging. Fifteen female Myalgic Encephalomyelitis/Chronic Fatigue Syndrome patients and 15 healthy female controls completed 30min of submaximal exercise (70% of peak heart rate) on a cycle ergometer. Symptom assessments (e.g...
February 17, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28198914/action-of-vitamin-e-on-experimental-severe-acute-liver-failure
#17
Fabiano Moraes Miguel, Elizângela Gonçalves Schemitt, Josieli Raskopf Colares, Renata Minuzzo Hartmann, Maria Isabel Morgan-Martins, Norma Possa Marroni
BACKGROUND: Severe Acute Liver Failure (ALF) is a life-threatening clinical syndrome characterized by hepatocyte necrosis, loss of hepatic architecture, and impairment of liver functions. One of the main causes of ALF is hepatotoxicity from chemical agents, which damage hepatocytes and result in increase of reactive oxygen species. The vitamin E isoform is the one with the strongest biological antioxidant activity. OBJECTIVE: To evaluate the antioxidant effect of vitamin E in this ALF model...
February 13, 2017: Arquivos de Gastroenterologia
https://www.readbyqxmd.com/read/28198702/epigenetic-clock-analysis-of-diet-exercise-education-and-lifestyle-factors
#18
Austin Quach, Morgan E Levine, Toshiko Tanaka, Ake T Lu, Brian H Chen, Luigi Ferrucci, Beate Ritz, Stefania Bandinelli, Marian L Neuhouser, Jeannette M Beasley, Linda Snetselaar, Robert B Wallace, Philip S Tsao, Devin Absher, Themistocles L Assimes, James D Stewart, Yun Li, Lifang Hou, Andrea A Baccarelli, Eric A Whitsel, Steve Horvath
Behavioral and lifestyle factors have been shown to relate to a number of health-related outcomes, yet there is a need for studies that examine their relationship to molecular aging rates. Toward this end, we use recent epigenetic biomarkers of age that have previously been shown to predict all-cause mortality, chronic conditions, and age-related functional decline. We analyze cross-sectional data from 4,173 postmenopausal female participants from the Women's Health Initiative, as well as 402 male and female participants from the Italian cohort study, Invecchiare nel Chianti...
February 14, 2017: Aging
https://www.readbyqxmd.com/read/28198397/cystinosis-ctns-zebrafish-mutant-shows-pronephric-glomerular-and-tubular-dysfunction
#19
Mohamed A Elmonem, Ramzi Khalil, Ladan Khodaparast, Laleh Khodaparast, Fanny O Arcolino, Joseph Morgan, Anna Pastore, Przemko Tylzanowski, Annelii Ny, Martin Lowe, Peter A de Witte, Hans J Baelde, Lambertus P van den Heuvel, Elena Levtchenko
The human ubiquitous protein cystinosin is responsible for transporting the disulphide amino acid cystine from the lysosomal compartment into the cytosol. In humans, Pathogenic mutations of CTNS lead to defective cystinosin function, intralysosomal cystine accumulation and the development of cystinosis. Kidneys are initially affected with generalized proximal tubular dysfunction (renal Fanconi syndrome), then the disease rapidly affects glomeruli and progresses towards end stage renal failure and multiple organ dysfunction...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28152971/understanding-patterns-of-genetic-risk-evaluation-gre-referral-and-uptake-in-patients-pts-with-epithelial-ovarian-cancer-eoc
#20
Robert Morgan, Lucille A Leong
254 Background: EOC is the most common cause of gynecologic cancer death and fifth leading cause in women. ~20% cases are due to identifiable genetic risk (BRCA1/2 in 15%, Lynch syndrome 2%, other germline mutations 6%). Since 2013, National Comprehensive Cancer Network (NCCN) guidelines recommend all women with EOC be referred for GRE, to optimize risk stratification, genetic testing decisions, clinical management, with goal to reduce mortality. Yet physicians under-refer and pts under-utilize genetic services...
March 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
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