7 research outputs found
Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy
- Author
- Alston Charlotte L.
- Bindoff Laurence A.
- Chin Sophie L.
- Dallabona Cristina
- de Visser Marianne
- Dean John C. S.
- Donnini Claudia
- Falkous Gavin
- Farrugia Maria E.
- Gilberti Micol
- Gorman Gráinne S.
- Haack Tobias B.
- He Langping
- Knowles Charlotte
- Longman Cheryl
- McFarland Robert
- Murdoch David
- Ng Yi Shiau
- Petty Richard K.
- Prokisch Holger
- Rawles John M.
- Schaefer Andrew M.
- Sommerville Ewen W.
- Taylor Robert W.
- Turnbull Douglass M.
- Publication venue
- 'American Medical Association (AMA)'
- Publication date
- 01/01/2017
- Field of study
Importance: YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. However, the identification of new patients expands the clinical and molecular spectrum of mitochondrial disorders.
Objectives: To review the clinical, molecular, and genetic features of YARS2-related mitochondrial disease and to demonstrate a new Scottish founder variant.
Design, Setting, and Participants: An observational case series study was conducted at a national diagnostic center for mitochondrial disease in Newcastle upon Tyne, England, and review of cases published in the literature. Six adults in a well-defined mitochondrial disease cohort and 11 additional cases described in the literature were identified with YARS2 variants between January 1, 2000, and January 31, 2015.
Main Outcome and Measures: The spectrum of clinical features and disease progression in unreported and reported patients with pathogenic YARS2 variants.
Results: Seventeen patients (median [interquartile range] age at onset, 1.5 [9.8] years) with YARS2-related mitochondrial myopathy were identified. Fifteen individuals (88%) exhibited an elevated blood lactate level accompanied by generalized myopathy; only 12 patients (71%) manifested with sideroblastic anemia. Hypertrophic cardiomyopathy (9 [53%]) and respiratory insufficiency (8 [47%]) were also prominent clinical features. Central nervous system involvement was rare. Muscle studies showed global cytochrome-c oxidase deficiency in all patients tested and severe, combined respiratory chain complex activity deficiencies. Microsatellite genotyping demonstrated a common founder effect shared between 3 Scottish patients with a p.Leu392Ser variant. Immunoblotting from fibroblasts and myoblasts of an affected Scottish patient showed normal YARS2 protein levels and mild respiratory chain complex defects. Yeast modeling of novel missense YARS2 variants closely correlated with the severity of clinical phenotypes.
Conclusions and Relevance: The p.Leu392Ser variant is likely a newly identified founder YARS2 mutation. Testing for pathogenic YARS2 variants should be considered in patients presenting with mitochondrial myopathy, characterized by exercise intolerance and muscle weakness even in the absence of sideroblastic anemia irrespective of ethnicity. Regular surveillance and early treatment for cardiomyopathy and respiratory muscle weakness is advocated because early treatment may mitigate the significant morbidity and mortality associated with this genetic disorder
Obesity is associated with increased postoperative complications after operative management of distal humerus fractures
- Author
- A. Bobby Chhabra
- Aaron M. Freilich
- Abdel
- Belmont
- Belmont
- Brian C. Werner
- Caravaggi
- Carey
- Chan
- D'Apuzzo
- Douglas
- Duncan
- Egol
- Flegal
- Foran
- Foran
- Friedman
- Gage
- Githens
- Gonzalez Della Valle
- Griffin
- Guh
- Haverkamp
- J. Taylor Jobe
- Kandil
- Kerkhoffs
- Khaodhiar
- Kim
- Kurth
- Linn
- Mansat
- Nauth
- Naziri
- Palvanen
- Pi-Sunyer
- Raphael
- Robert B. Rawles
- Schwarzkopf
- Sørensen
- Vazquez
- Wang
- Werner
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Delayed-Amelanotic (DAM or Smyth) Chicken: Melanocyte Dysfunction In Vivo and In Vitro
- Author
- Aaron B Lerner
- Audrey T Trainer
- Bhawan
- Bleehen
- Boissy
- Boissy
- Boissy
- Bowers
- Brumbaugh
- de Jong
- Eppig
- Foulks
- Gisela Moellmann
- Gomori
- Halaban
- Halaban
- Hochstein
- J Robert Smyth
- Jimbow
- Lamont
- Lamont
- Lerner
- Lerner
- Lucas
- Mahaffey
- Maul
- Maul
- Mayer
- Millikan
- Mishima
- Moellmann
- Moellmann
- Naughton
- Nordlund
- Pawelek
- Pomerantz
- Rawles
- Raymond E Boissy
- Ruprecht
- Smyth
- Smyth
- Wick
- Witkop
- Woolfson
- Publication venue
- 'Wiley'
- Publication date
- Field of study
Horse and Herald: Posidippus’ Equestrian Angelia
- Author
- Ambühl A.
- Anderson J.K.
- Austin C.
- Bastianini G
- Bettenworth A.
- Bing P.
- Bing P.
- Bing P.
- Blech M.
- Bowie E.
- Brousseau L.
- Bruss J.S.
- Carey C.
- Currie B.
- Day J.
- De Stefani C.
- Devereux G.
- Ebert J
- Eckerman C.
- Fantuzzi M.
- Fantuzzi M.
- Golden M.
- Goldhill S.
- Griffith M.
- Gutzwiller K.
- Hadjimichael T
- Harrell S.
- Hemingway S.
- Hubbard T.K.
- Kosmetatou E.
- Krevans N.
- Kurke L.
- Lloyd-Jones H.
- Mann C.
- Miller P.J.
- Männlein-Robert I.
- Nagy G.
- Nash L.L.
- Nicholson N.
- Nobili C
- Nünlist R.
- Rawles R.
- Remijsen S.
- Scharff S
- Sider D.
- Slater W.J.
- Spence I.G.
- Thomas R
- Thompson D.J.
- Webb R
- Willekes C.
- Willekes C.
- Wolicki A.
- Young D.C
- Young D.C.
- Publication venue
- 'University of Toronto Press Inc. (UTPress)'
- Publication date
- Field of study
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- Morphologie und Morphogenese des Papillarkörpers der Schleimhäute in der Mundhöhle des Menschen
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- Morphologische Untersuchungen der glatten Muskulatur in der Unterbauchhaut bei den japanischen Frauen
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- Physikalisch-chemische Studien über den Feinbau des Wollhaares an unbehandelter Wolle
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- Quantitative Untersuchung der Schweißdrüsen bei den Affen
- R Bassleer
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- Types and distribution of the hair in man
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- Zur Morphologie der gesunden und kranken Haut
- Über den Golgiapparat der ekkrinen Schweißdrüsenzellen der menschlichen Haut
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1957
- Field of study
Thrombolytics: prospects for new agents
- Author
- A comparison of reteplase with alteplase foracute myocardial infarction
- AGNELLI G
- AMBROSIO G
- ANTMAN EM
- ARMSTRONG PW
- BLEICH SD
- BODE C
- BRODIE BR
- CHAZOV El
- CHESEBRO JH
- COLLEN D
- COLLINS R
- Daniel B McKenzie
- DAVIES MJ
- DE BONO DP
- DEN HEUER P
- DEWOOD MA
- Effectiveness of intravenous thrombolytic treatment in acute myocardial infarction
- Efficacy and safety of tenecteplase in combination with enoxaparin abciximab, or unfractionated heparin
- FLETCHER AP
- FUJISE K
- GISSI-
- Group ATS
- HERRICK JB
- HOFFMEISTER HM
- In-hospital mortality and clinical course of 20 891 patients with suspected acute myocardial infarction randomised between alteplase and streptokinase with or without heparin.
- Indications for fibrinolytic therapy in suspected acute myocardial infarction
- Intravenous NPA for the treatment of infarcting myocardium early
- KENT DM
- Late Assessment of Thrombolytic Efficacy
- LAU J
- MAES A
- MEIJER A
- MORRISON C
- MORRISON LJ
- NEUHAUS KL
- NEUHAUS KL
- OHMAN EM
- PATEL S
- PENNICA D
- Prehospital thrombolytic therapy in patientswith suspected acute myocardial infarction
- Randomised double-blind trial of recombinant pro-urokinase against streptokinase in acute myocardial infarction
- Randomised double-blind comparison ofreteplase double-bolus administration with streptokinase in acute myocardial infarction
- RAO AK
- RAWLES J
- RENTROP KP
- Robert G Wilcox
- ROE MT
- ROSS AM
- SIMOONS ML
- Single-bolus tenecteplase compared with front-loaded alteplase in acute myocardial infarction
- SMALLING RW
- SUZUKI M
- TEBBE U
- The Thrombolysis in Myocardial Infarction
- TOPOL EJ
- TOPOL EJ
- Trial of abciximab with and without low-dose reteplase for acute myocardial infarction
- VAN DE WERF F CANNON CP,
- VANDERSCHUEREN S
- WALLENTIN L
- WHITE H
- WHITE HD
- WHITE HD
- WILCOX RG
- ZAHN R
- Publication venue
- 'Informa Healthcare'
- Publication date
- Field of study