Search Results - "Mayr, A. J."

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy by Bader, Ingrid, Freilinger, M, Landauer, F, Waldmüller, S, Mueller-Felber, W, Rauscher, C, Sperl, W, Bittner, R. E, Schmidt, W. M, Mayr, J. A

“…Abstract Background Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7 -related skeletal myopathies are extremely rare, and the vast…”
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Lack of complex I is associated with oncocytic thyroid tumours by Zimmermann, F A, Mayr, J A, Neureiter, D, Feichtinger, R, Alinger, B, Jones, N D, Eder, W, Sperl, W, Kofler, B

“…Oncocytic tumours are characterised by hyperproliferation of mitochondria. We immunohistochemically analysed all enzymes of the oxidative phosphorylation…”
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Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism by MEIERHOFER, D, MAYR, J. A, FINK, K, SCHMELLER, N, KOFLER, B, SPERL, W

“…Previously, renal cell carcinoma tissues were reported to display a marked reduction of components of the respiratory chain. To elucidate a possible…”
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Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect by Herzer, M, Koch, J, Prokisch, H, Rodenburg, R, Rauscher, C, Radauer, W, Forstner, R, Pilz, P, Rolinski, B, Freisinger, P, Mayr, J A, Sperl, W

“…Mitochondrial NADH: ubiquinone oxidoreductase (complex I) deficiency accounts for most defects in mitochondrial oxidative phosphorylation. Pathogenic mutations…”
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Oxygen distribution in microcirculation after arginine vasopressin-induced arteriolar vasoconstriction by Friesenecker, B, Tsai, A G, Dünser, M W, Mayr, A J, Martini, J, Knotzer, H, Hasibeder, W, Intaglietta, M

“…The microvascular distribution of oxygen was studied in the arterioles and venules of the awake hamster window chamber preparation to determine the…”
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Antifactor Xa activity in intensive care patients receiving thromboembolic prophylaxis with standard doses of enoxaparin by Mayr, A.J, Dünser, M, Jochberger, S, Fries, D, Klingler, A, Joannidis, M, Hasibeder, W, Schobersberger, Wolfgang

“…Background: Low-molecular-weight heparins (LMWHs) have become increasingly used to prevent thromboembolic complications in intensive care patients. Unlike in…”
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Danon disease: Case report and detection of new mutation by Regelsberger, G., Höftberger, R., Pickl, W. F., Zlabinger, G. J., Körmöczi, U., Salzer-Muhar, U., Luckner, D., Bodamer, O. A., Mayr, J. A., Muss, W. H., Budka, H., Bernheimer, H.

“…Summary Danon disease is an X-linked disorder resulting from mutations in the lysosome-associated membrane protein-2 ( LAMP2 ) gene. We report a male patient…”
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Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I by Budde, S. M. S., Heuvel, L. P. W. J., Smeets, R. J. P., Skladal, D., Mayr, J. A., Boelen, C., Petruzzella, V., Papa, S., Smeitink, J. A. M.

“…A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation…”
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Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism by Horváth, R., Freisinger, P., Rubio, R., Merl, T., Bax, R., Mayr, J. A., Shawan, Müller‐Höcker, J., Pongratz, D., Moller, L. B., Horn, N., Jaksch, M.

“…Summary Deficiencies of different proteins involved in copper metabolism have been reported to cause human diseases. Well‐known syndromes, for example, are…”
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Cardiac performance during vasopressin infusion in postcardiotomy shock by DÜNSER, M. W, MAYR, A. J, STALLINGER, A, ULMER, H, RITSCH, N, KNOTZER, H, PAJK, W, MUTZ, N. J, HASIBEDER, W. R

“…Arginine-vasopressin (AVP) might be a potent vasopressor agent in catecholamine-resistant postcardiotomy shock. However, its use remains experimental because…”
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Arginine vasopressin and serum nitrite/nitrate concentrations in advanced vasodilatory shock by Dünser, M. W., Werner, E. R., Wenzel, V., Ulmer, H., Friesenecker, B. E., Hasibeder, W. R., Mayr, A. J.

“…Background:  Arginine‐vasopressin (AVP) can successfully stabilize hemodynamics in patients with advanced vasodilatory shock. It has been suggested that…”
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Mitochondrial DNA depletion in Alpers syndrome by Tesarova, M, Mayr, J A, Wenchich, L, Hansikova, H, Elleder, M, Blahova, K, Sperl, W, Zeman, J

“…Mitochondrial dysfunction of the energy generating system was suggested in two infants with progressive infantile poliodystrophy characterised by hypotonia,…”
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Platelet transfusion can mimic somatic mtDNA mutations by Meierhofer, D, Ebner, S, Mayr, J A, Jones, N D, Kofler, B, Sperl, W

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Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases by Maas, Roeltje R., Iwanicka‐Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al‐Owain, Mohammed A., Al‐Zaidan, Hamad I., Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs‐Nagy, Reka, Krumina, Zita, Martin‐Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.

“…Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) syndrome is caused by biallelic variants…”
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Craniotomy during ECMO in a severely traumatized patient by Friesenecker, B E, Peer, R, Rieder, J, Lirk, P, Knotzer, H, Hasibeder, W R, Mayr, A J, Dünser, M W

“…Extracorporeal membrane oxygenation (ECMO) can be a last resort treatment in acute respiratory distress syndrome after thoracic trauma. However, co-existent…”
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Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases by Mayr, J A, Feichtinger, R G, Achleitner, M T, Brugger, K, Kutsam, K, Spenger, J, Koch, J, Hofbauer, P, Lagler, F B, Sperl, W, Weghuber, D, Wortmann, S B

“…Genetic defects are often still regarded as a life-long fate, which one has to cope with. It is true that in many cases an inherited disposition may lead to…”
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MKS1 mutations cause joubert syndrome with agenesis of the corpus callosum by Bader, Ingrid, Decker, E, Mayr, J.A, Lunzer, V, Koch, J, Boltshauser, E, Sperl, W, Pietsch, P, Ertl-Wagner, B, Bolz, H, Bergmann, C, Rittinger, O

“…Abstract Joubert syndrome (JS) is a clinically and genetically heterogeneous ciliopathy characterized by episodic hyperpnea and apnea, hypotonia, ataxia,…”
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Arginine vasopressin in advanced vasodilatory shock: A prospective, randomized, controlled study by DÜNSER, Martin W, MAYR, Andreas J, ULMER, Hanno, KNOTZER, Hans, SUMANN, Günther, PAJK, Werner, FRIESENECKER, Barbara, HASIBEDER, Walter R

“…Vasodilatory shock is a potentially lethal complication of severe disease in critically ill patients. Currently, catecholamines are the most widely used…”
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Cardiac failure and multiple organ dysfunction syndrome in a patient with endocrine adenomatosis by Dünser, M. W., Mayr, A. J., Gasser, R., Rieger, M., Friesenecker, B., Hasibeder, W. R.

“…In this case report, we present the successful therapy of severe cardiac failure in pituitary adrenal insufficiency. A previously healthy 56‐year‐old‐man in…”
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Prospective observational study of antiphospholipid antibodies in acute lung injury and acute respiratory distress syndrome: comparison with catastrophic antiphospholipid syndrome by Wiedermann, F J, Lederer, W, Mayr, A J, Sepp, N, Herold, M, Schobersberger, W

“…Detection of antiphospholipid (aPL) antibodies in bronchoalveolar lavage fluid (BALF) of patients with acute respiratory distress syndrome (ARDS) suggests…”
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