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117 results on '"Skladal, P."'

1. YAP–TEAD1 control of cytoskeleton dynamics and intracellular tension guides human pluripotent stem cell mesoderm specification

Author

Pagliari, Stefania, Vinarsky, Vladimir, Martino, Fabiana, Perestrelo, Ana Rubina, Oliver De La Cruz, Jorge, Caluori, Guido, Vrbsky, Jan, Mozetic, Pamela, Pompeiano, Antonio, Zancla, Andrea, Ranjani, Sri Ganji, Skladal, Petr, Kytyr, Dan, Zdráhal, Zbyněk, Grassi, Gabriele, Sampaolesi, Maurilio, Rainer, Alberto, and Forte, Giancarlo

Published
2021
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2. Passive Diffusion vs Active pH-Dependent Encapsulation of Tyrosine Kinase Inhibitors Vandetanib and Lenvatinib into Folate-Targeted Ferritin Delivery System

Author

Skubalova Z, Rex S, Sukupova M, Zahalka M, Skladal P, Pribyl J, Michalkova H, Weerasekera A, Adam V, and Heger Z

Subjects
drug delivery, nanomedicine, lenvatinib, vandetanib, Medicine (General), R5-920
Abstract

Zuzana Skubalova,1,2 Simona Rex,1,2 Martina Sukupova,1 Martin Zahalka,1 Petr Skladal,3 Jan Pribyl,3 Hana Michalkova,1,2 Akila Weerasekera,4 Vojtech Adam,1,2 Zbynek Heger1,2 1Department of Chemistry and Biochemistry, Mendel University in Brno, Brno, Czech Republic; 2Central European Institute of Technology, Brno University of Technology, Brno, Czech Republic; 3Central European Institute of Technology, Masaryk University, Brno, Czech Republic; 4Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, USACorrespondence: Zbynek HegerDepartment of Chemistry and Biochemistry, Mendel University in Brno, Zemedelska 1, Brno CZ-613 00, Czech RepublicTel +420-5-4513-3350Fax +420-5-4521-2044Email heger@mendelu.czIntroduction: The present study reports on examination of the effects of encapsulating the tyrosine kinase inhibitors (TKIs) vandetanib and lenvatinib into a biomacromolecular ferritin-based delivery system.Methods: The encapsulation of TKIs was performed via two strategies: i) using an active reversible pH-dependent reassembly of ferritin´s quaternary structure and ii) passive loading of hydrophobic TKIs through the hydrophobic channels at the junctions of ferritin subunits. After encapsulation, ferritins were surface-functionalized with folic acid promoting active-targeting capabilities.Results: The physico-chemical and nanomechanical analyses revealed that despite the comparable encapsulation efficiencies of both protocols, the active loading affects stability and rigidity of ferritins, plausibly due to their imperfect reassembly. Biological experiments with hormone-responsive breast cancer cells (T47-D and MCF-7) confirmed the cytotoxicity of encapsulated and folate-targeted TKIs to folate-receptor positive cancer cells, but only limited cytotoxic effects to healthy breast epithelium. Importantly, the long-term cytotoxic experiments revealed that compared to the pH-dependent encapsulation, the passively-loaded TKIs exert markedly higher anticancer activity, most likely due to undesired influence of harsh acidic environment used for the pH-dependent encapsulation on the TKIs’ structural and functional properties.Conclusion: Since the passive loading does not require a reassembly step for which acids are needed, the presented investigation serves as a solid basis for future studies focused on encapsulation of small hydrophobic molecules.Keywords: drug delivery, nanomedicine, lenvatinib, vandetanib

Published
2021

5. YAP Signaling Regulates the Cellular Uptake and Therapeutic Effect of Nanoparticles

Author

Cassani, M, Fernandes, S, Oliver-De La Cruz, J, Durikova, H, Vrbsky, J, Patočka, M, Hegrova, V, Klimovic, S, Pribyl, J, Debellis, D, Skladal, P, Cavalieri, F, Caruso, F, Forte, G, Cassani, M, Fernandes, S, Oliver-De La Cruz, J, Durikova, H, Vrbsky, J, Patočka, M, Hegrova, V, Klimovic, S, Pribyl, J, Debellis, D, Skladal, P, Cavalieri, F, Caruso, F, and Forte, G

Abstract

Interactions between living cells and nanoparticles are extensively studied to enhance the delivery of therapeutics. Nanoparticles size, shape, stiffness, and surface charge are regarded as the main features able to control the fate of cell-nanoparticle interactions. However, the clinical translation of nanotherapies has so far been limited, and there is a need to better understand the biology of cell-nanoparticle interactions. This study investigates the role of cellular mechanosensitive components in cell-nanoparticle interactions. It is demonstrated that the genetic and pharmacologic inhibition of yes-associated protein (YAP), a key component of cancer cell mechanosensing apparatus and Hippo pathway effector, improves nanoparticle internalization in triple-negative breast cancer cells regardless of nanoparticle properties or substrate characteristics. This process occurs through YAP-dependent regulation of endocytic pathways, cell mechanics, and membrane organization. Hence, the study proposes targeting YAP may sensitize triple-negative breast cancer cells to chemotherapy and increase the selectivity of nanotherapy.

Published
2023

12. Regulation of Cell–Nanoparticle Interactions through Mechanobiology

Author

Cassani, Marco, Niro, Francesco, Fernandes, Soraia, Pereira-Sousa, Daniel, Faes Morazzo, Sofia, Durikova, Helena, Wang, Tianzheng, González-Cabaleiro, Lara, Vrbsky, Jan, Oliver-De La Cruz, Jorge, Klimovic, Simon, Pribyl, Jan, Loja, Tomas, Skladal, Petr, Caruso, Frank, and Forte, Giancarlo

Abstract

Bio–nano interactions have been extensively explored in nanomedicine to develop selective delivery strategies and reduce systemic toxicity. To enhance the delivery of nanocarriers to cancer cells and improve the therapeutic efficiency, different nanomaterials have been developed. However, the limited clinical translation of nanoparticle-based therapies, largely due to issues associated with poor targeting, requires a deeper understanding of the biological phenomena underlying cell–nanoparticle interactions. In this context, we investigate the molecular and cellular mechanobiology parameters that control such interactions. We demonstrate that the pharmacological inhibition or the genetic ablation of the key mechanosensitive component of the Hippo pathway, i.e., yes-associated protein, enhances nanoparticle internalization by 1.5-fold. Importantly, this phenomenon occurs independently of nanoparticle properties, such as size, or cell properties such as surface area and stiffness. Our study reveals that the internalization of nanoparticles in target cells can be controlled by modulating cell mechanosensing pathways, potentially enhancing nanotherapy specificity.

Published
2025
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13. Role of oxygen exposure on the differentiation of human induced pluripotent stem cells in 2D and 3D cardiac organoids

Author

Souidi, M., primary, Sleiman, Y., additional, Acimovic, I., additional, Pribyl, J., additional, Charrabi, A., additional, Baecker, V., additional, Scheuermann, V., additional, Pesl, M., additional, Jelinkova, S., additional, Skladal, P., additional, Dvorak, P., additional, Lacampagne, A., additional, Rotrekl, V., additional, and Meli, A., additional

Published
2021
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40. Graphene Oxide from Improved Hummers' Method: Is This Material Suitable for Reproducible Electrochemical (Bio)Sensing?

Author

Lacina, Karel, Kubesa, Ondrej, Horackova, Veronika, Moravec, Zdenek, Kuta, Jan, Vanysek, Petr, and Skladal, Petr

Abstract

Graphene as a superior nanomaterial is currently omnipresent and electroanalytical applications are not an exception. In this contribution, its suitability for such applications was critically assessed. We synthesized graphene oxide (GO) in five separate but identical experiments using the improved Hummers' method - well-known and extensively utilized procedure which is typically followed by various operations leading to reduced graphene oxide material. These five repeated trials were precisely controlled to keep the experimental conditions as identical as possible. The resulting five individual GO products were compared by means of elemental analysis, Raman spectroscopy, ICP-MS and AFM. The possible employment of such graphene products - electrochemically reduced GO - for electroanalytical purposes was also probed from the viewpoint of the reproducibility of modification of electrodes and the results seem disconcerting, indicating poor reproducibility. No similar study in reproducibility has been performed until now, since all previous reports always compared only different methods of preparation and only discrete experiments of preparation - repeatability has not been properly addressed.

Published
2018

41. Andrology (Male Fertility, Spermatogenesis)

Author

Matsumoto, Y., primary, Goto, S., additional, Hashimoto, H., additional, Kokeguchi, S., additional, Shiotani, M., additional, Okada, H., additional, Cohen - Bacrie, P., additional, Hazout, A., additional, Belloc, S., additional, De Mouzon, J., additional, Menezo, Y., additional, Dumont, M., additional, Junca, A. M., additional, Cohen-Bacrie, M., additional, Alvarez, S., additional, Olivennes, F., additional, Prisant, N., additional, Weltin, M., additional, Geissler, W., additional, Clussmann, C., additional, Strowitzki, T., additional, Eggert-Kruse, W., additional, Endou, Y., additional, Fjii, Y., additional, Motoyama, H., additional, Quintana, F. Q., additional, Zaloa Larreategui, Z. L., additional, Iratxe Penalba, I. P., additional, Sara Ortega, S. O., additional, Monica Martin, M. M., additional, Guillermo Quea, G. Q., additional, Jose Serna, J. S., additional, Showell, M. G., additional, Brown, J., additional, Yazdani, A., additional, Stankiewicz, M. T., additional, Hart, R. J., additional, Zumoffen, C., additional, Munuce, M. J., additional, Caille, A., additional, Ghersevich, S., additional, Lendinez, A. M., additional, Perez-Nevot, B., additional, Palomares, A. R., additional, Serrano Garballo, A., additional, Rodriguez, A., additional, Reche, A., additional, Mayor-Olea, A., additional, Ruiz-Galdon, M., additional, Reyes-Engel, A., additional, Mendiola, J., additional, Jorgensen, N., additional, Andersson, A. M., additional, Calafat, A. M., additional, Redmon, J. B., additional, Drobnis, E. Z., additional, Wang, C., additional, Sparks, A., additional, Thurston, S. W., additional, Liu, F., additional, Swan, S. H., additional, Tarasconi, A. C., additional, Tarasconi, B. V., additional, Tarasconi, D. V., additional, Silva, E. M. V., additional, Fujii, Y., additional, Crha, I., additional, Pribyl, J., additional, Skladal, P., additional, Zakova, J., additional, Ventruba, P., additional, Pohanka, M., additional, De La Fuente, G., additional, Pacheco, A., additional, Velasco, J. A. G., additional, Requena, A., additional, Pacheco Castro, A., additional, San Celestino Carchenilla, M., additional, Salvanes, R., additional, Arnanz, A., additional, Balmori, C., additional, Pellicer, A., additional, Garcia-Velasco, J. A., additional, Ishikawa, T., additional, Fujisawa, M., additional, Kranz, S., additional, Hersemeyer, K., additional, Hentrich, A., additional, Tinneberg, H. R., additional, Konrad, L., additional, Simon, L., additional, Lutton, D., additional, McManus, J., additional, Lewis, S. E. M., additional, Rubio, S., additional, Simon Sanjurjo, P., additional, Lewis, S., additional, Buzzi, J., additional, Valcarcel, A., additional, Lombardi, E., additional, Oses, R., additional, Rawe, V., additional, Young, E., additional, Magendzo, A., additional, Lizama, S., additional, Duque, G., additional, Mackenna, A., additional, Monqaut, A., additional, Zavaleta, C., additional, Lopez, G., additional, Lafuente, R., additional, Brassesco, M., additional, Condorelli, R., additional, La Vignera, S., additional, La Rosa, S., additional, Barone, N., additional, Vicari, E., additional, Bellanca, S., additional, D'Agata, R., additional, Calogero, A. E., additional, Enciso, M., additional, Iglesias, M., additional, Galan, I., additional, Gosalvez, A., additional, Gosalvez, J., additional, Curaba, M., additional, Poels, J., additional, Van Langendonckt, A., additional, Donnez, J., additional, Wyns, C., additional, Garcez, M., additional, Salvador, M., additional, Pasqualotto, E. B., additional, Braga, D. P. A. F., additional, Borges, E., additional, Pasqualotto, F. F., additional, Aoki, T., additional, Figueira, R. C. S., additional, Maldonado, L. G. L., additional, Iaconelli, A., additional, Frassini, R., additional, Mandelli, J., additional, Setti, A. S., additional, Cortezzi, S. S., additional, Di Mauro, M., additional, Burrello, N., additional, Kashir, J., additional, Jones, C., additional, Young, C., additional, Ruas, M., additional, Grasa, P., additional, Rietdorf, K., additional, Heytens, E., additional, Heindryckx, B., additional, Yoon, S. Y., additional, Fissore, R. A., additional, Deane, C. M., additional, Nikiforaki, D., additional, Tee, S. T., additional, de Sutter, P., additional, Parrington, J., additional, Coward, K., additional, Visser, L., additional, Westerveld, G. H., additional, van Daalen, S. K. M., additional, van der Veen, F., additional, Lombardi, M. P., additional, Repping, S., additional, Cubillos, S., additional, Sanchez, S., additional, Pedraza, J., additional, Charria, G., additional, Aparicio, H., additional, Gongora, A., additional, Caldino, F., additional, Cuneo, S., additional, Ou, J. P., additional, Zhao, W. E., additional, Liu, Y. F., additional, Xu, Y. W., additional, Zhou, C. Q., additional, Al-Asmar Pinar, N., additional, Peinado, V., additional, Gruhn, J., additional, Susiarjo, M., additional, Gil-Salom, M., additional, Martinez-Jabaloyas, J. M., additional, Remohi, J., additional, Rubio, C., additional, Hassold, T., additional, Al-Asmar, N., additional, Rodrigo, L., additional, Hassold, T. J., additional, Bungum, M., additional, Forsell, N., additional, Giwercman, A., additional, Amiri, I., additional, Sheikh, N., additional, Najafi, R., additional, Godarzi, M., additional, Farimani, M., additional, Makukh, H., additional, Tyrkus, M., additional, Zastavna, D., additional, Nakonechnuy, A., additional, Khayat, S. S., additional, Schileiko, L. V., additional, Kurilo, L. F., additional, Garcia-Herrero, S., additional, Garrido, N., additional, Martinez-Conejero, J. A., additional, Romany, L., additional, Meseguer, M., additional, Dorphin, B., additional, Lefevre, M., additional, Gout, C., additional, Oger, P., additional, Yazbeck, C., additional, Rougier, N., additional, De Stefani, S., additional, Scala, V., additional, Benedetti, S., additional, Tagliamonte, M. C., additional, Zavagnini, E., additional, Palini, S., additional, Bulletti, C., additional, Canestrari, F., additional, Subiran, N., additional, Pinto, F. M., additional, Candenas, M. L., additional, Agirregoitia, E., additional, Irazusta, J., additional, Cha, E. M., additional, Lee, J. H., additional, Park, I. H., additional, Lee, K. H., additional, Kim, M. H., additional, Jensen, M. S., additional, Rebordosa, C., additional, Thulstrup, A. M., additional, Toft, G., additional, Sorensen, H. T., additional, Bonde, J. P., additional, Henriksen, T. B., additional, Olsen, J., additional, Bosco, L., additional, Speciale, M., additional, Manno, M., additional, Amireh, N., additional, Roccheri, M. C., additional, Cittadini, E., additional, Wu, P., additional, Lee, Y. M., additional, Chen, H. W., additional, Tzeng, C. R., additional, Llacer, J., additional, Ten, J., additional, Lledo, B., additional, Rodriguez-Arnedo, A., additional, Morales, R., additional, Bernabeu, R., additional, Garcia-Peiro, A., additional, Martinez-Heredia, J., additional, Oliver-Bonet, M., additional, Ribas, J., additional, Abad, C., additional, Amengual, M. J., additional, Navarro, J., additional, Benet, J., additional, Moutou, C., additional, Gardes, N., additional, Nicod, J. C., additional, Becker, N., additional, Bailly, M. P., additional, Galland, I., additional, Pirello, O., additional, Rongieres, C., additional, Wittemer, C., additional, Viville, S., additional, Elmahaishi, W., additional, Smith, B., additional, Doshi, A., additional, Serhal, P., additional, Harper, J. C., additional, Rennemeier, C., additional, Kammerer, U., additional, Dietl, J., additional, Staib, P., additional, Elgmati, K., additional, Nomikos, M., additional, Theodoridou, M., additional, Calver, B., additional, Swann, K., additional, Lai, F. A., additional, Georgiou, I., additional, Lazaros, L., additional, Xita, N., additional, Kaponis, A., additional, Plachouras, N., additional, Hatzi, E., additional, Zikopoulos, K., additional, Ferfouri, F., additional, Clement, P., additional, Molina Gomes, D., additional, Albert, M., additional, Bailly, M., additional, Wainer, R., additional, Selva, J., additional, Vialard, F., additional, Takisawa, T., additional, Usui, K., additional, Kyoya, T., additional, Shibuya, Y., additional, Hattori, H., additional, Sato, Y., additional, Ota, M., additional, Kyono, K., additional, Chiu, P. C., additional, Lam, K. K., additional, Lee, C. L., additional, Chung, M. K., additional, Huang, V. W., additional, O, W. S., additional, Tang, F., additional, Ho, P. C., additional, Yeung, W. S., additional, Kim, C. H., additional, Lee, J. Y., additional, Kim, S. H., additional, Suh, C. S., additional, Shin, Y. K., additional, Kang, Y. J., additional, Jung, J. H., additional, Cha, C. Y., additional, Hwang, E. S., additional, Mukaida, T., additional, Nagaba, M., additional, Takahashi, K., additional, Elkaffash, D., additional, Sedrak, M., additional, Huhtaniemi, I., additional, Abdel-Al, T., additional, Younan, D., additional, Cassuto, N. G., additional, Bouret, D., additional, Hammoud, I., additional, Barak, Y., additional, Seshadri, S., additional, Bates, M., additional, Vince, G., additional, Jones, D. I., additional, Ben Khalifa, M., additional, Montjean, D., additional, Cohen-Bacrie, P., additional, Aubriot, F. X., additional, Cohen, M., additional, Boudjema, E., additional, Magli, M. C., additional, Crippa, A., additional, Baccetti, B., additional, Ferraretti, A. P., additional, Gianaroli, L., additional, Singer, T., additional, Neri, Q. V., additional, Hu, J. C., additional, Maggiulli, R., additional, Kollman, Z., additional, Rauch, E., additional, Schlegel, P. N., additional, Rosenwaks, Z., additional, Palermo, G. D., additional, Zorn, B., additional, Skrbinc, B., additional, Matos, E., additional, Golob, B., additional, Pfeifer, M., additional, Osredkar, J., additional, Sabanegh, E., additional, Sharma, R. K., additional, Thiyagarajan, A., additional, Agarwal, A., additional, Robin, G., additional, Boitrelle, F., additional, Marcelli, F., additional, Marchetti, C., additional, Mitchell, V., additional, Dewailly, D., additional, Rigot, J. M., additional, Rives, N., additional, Perdrix, A., additional, Travers, A., additional, Milazzo, J. P., additional, Mousset-Simeon, N., additional, Mace, B., additional, Jakab, A., additional, Molnar, Z., additional, Benyo, M., additional, Levai, I., additional, Kassai, Z., additional, Ihan, A., additional, Kopitar, A., additional, Kolbezen, M., additional, Vaamonde, D., additional, Da Silva-Grigoletto, M. E., additional, Garcia-Manso, J. M., additional, Vaamonde-Lemos, R., additional, Oehninger, S. C., additional, Walis, G., additional, Monahan, D., additional, Ermolovich, E., additional, Fadlon, E., additional, Abu Elhija, A., additional, Abu Elhija, M., additional, Lunenfeld, E., additional, Huleihel, M., additional, Costantini-Ferrando, M., additional, Hu, J. C. Y., additional, Alvarez, J. G., additional, Velilla, E., additional, Lopez-Teijon, M., additional, Lopez-Fernandez, C., additional, Tempest, H. G., additional, Sun, F., additional, Ko, E., additional, Turek, P., additional, Martin, R. H., additional, Zomeno-Abellan, M. T., additional, Ramirez, A., additional, Gutierrez-Adan, A., additional, Martinez, J. C., additional, Landeras, J., additional, Ballesta, J., additional, Aviles, M., additional, Ganaiem, M., additional, Binder, S., additional, Meinhardt, A., additional, Sousa, L., additional, Grangeia, A., additional, Carvalho, F., additional, Sousa, M., additional, Barros, A., additional, Sifer, C., additional, Sermondade, N., additional, Hafhouf, E., additional, Poncelet, C., additional, Benzacken, B., additional, Levy, R., additional, Wolf, J. P., additional, Crisol, L., additional, Aspichueta, F., additional, Hernandez, M. L., additional, Exposito, A., additional, Matorras, R., additional, Ruiz-Larrea, M. B., additional, Ruiz-Sanz, J. I., additional, Jallad, S., additional, Atig, F., additional, Ben Amor, H., additional, Saad, A. L. I., additional, Kerkeni, A., additional, Ajina, M., additional, Othmane, A. L. I., additional, Koscinski, I., additional, Ladureau, L., additional, Scarselli, F., additional, Casciani, V., additional, Lobascio, M., additional, Minasi, M. G., additional, Rubino, P., additional, Colasante, A., additional, Arizzi, L., additional, Litwicka, K., additional, Iammarrone, E., additional, Ferrero, S., additional, Mencacci, C., additional, Franco, G., additional, Zavaglia, D., additional, Nagy, Z. P., additional, Greco, E., additional, Ohgi, S., additional, Takahashi, M., additional, Kishi, C., additional, Suga, K., additional, Yanaihara, A., additional, Chamley, L. W., additional, Wagner, A., additional, and Shelling, A. N., additional

Published
2010
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45. Electrochemical Immunosensor for Detection of Francisella Tularensis.

Author

Morrison, Dennis, Milanovich, Fred, Ivnitski, Dmitri, Austin, Thomas R., Skladal, P., Symerska, Y., Pohanka, M., Safar, B., and Macela, A.

Abstract

An immunosensor for rapid and sensitive detection of Francisella tularensis (Ft) was developed using screen-printed sensors with multiple (4) Au working electrodes. The sensing zones were modified with a biolayer of anti-Ft polyclonal antibody attached through the covalently immobilized Protein A. The sandwich assay format was employed with anti-Ft IgG-peroxidase conjugate as tracer. For electrochemical measurements, an automated portable detector was developed; it consisted of a digitally controlled potentiostat and four embedded miniperistaltic pumps. The flow-through measurement involved sequential incubations with sample (10 min), tracer (10 min) and substrate mixture (iodide and hydrogen peroxide). The enzymatically-produced iodine was detected electrochemically at - 50 mV. The limit of detection was 100 Ft cells/ml; the response was significantly higher (3x) when using the living cells compared to the heat inactivated ones. [ABSTRACT FROM AUTHOR]

Published
2005
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46. Contributor contact details

Author

Schaudies, R.P., Detter, J.C., Johnson, S.L., Chain, P.S., Bishop-Lilly, K.A., Gibbons, H.S., Minogue, T.D., Sozhamannan, Shanmuga, Van Gieson, E.J., Resnick, I.G., Nelson, W.M., Long, G.W., Cockrell, L.M., Tong, Y., Dunbar, S.A., Angeloni, S.V., Skládal, P., Dzyadevych, S., Jaffrezic-Renault, N., Chaniotakis, N., Fouskaki, M., Becker, H., Hansen-Hagge, T., Gärtner, C., Harmon, H.J., Oliver, A., Globus, T., Gelmont, B., Sizov, I., Ronningen, T.J., Schuetter, J.M., Wightman, J.L., Murdock, A., Bartko, A.P., Lee, H.S., Prasad, C.R., Serino, R.M., Bradburne, C., Jabbour, R.E., and Snyder, A.P.

Published
2014
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48. Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

Author

Skladal, Daniela, Halliday, Jane, and Thorburn, David R

Abstract

Mitochondrial respiratory chain disorders comprise a group of perhaps several hundred different genetic diseases. Each individual disorder is rare, but collectively they account for substantial use of health care resources. However, few accurate data on prevalence are available due to problems such as variation in clinical presentation, age of onset, referral practices and limitations of diagnostic methodologies. With this retrospective study, we aimed to determine the minimum birth prevalence of respiratory chain disorders that have onset in childhood, that is the proportion of births that will have onset of symptoms caused by a respiratory chain defect by 16 years of age. Of the 1 706 694 children born in the three south-eastern states of Australia (New South Wales, Victoria and South Australia) between January 1st 1987 and December 31st 1996, samples from 430 were referred for investigation of a respiratory chain disorder. Definite diagnosis of a respiratory chain disorder was made in 86 cases based on defined clinical, pathological, enzyme and molecular criteria. Age at presentation ranged from 0 to 129 months (median 4 months). The total data set predicts a minimum birth prevalence for respiratory chain disorders in children of 5.0/100 000 [95% confidence interval (CI) 4.0-6.2]. A significantly higher figure of 58.6/100 000 (95% CI 34.7-92.6) was noted for Australian families of Lebanese origin. Clinical awareness of respiratory chain disorders and investigation methods have improved since 1987, but not all affected children would have been recognized as such from the more recent years. The minimum birth prevalence of 6.2/100 000 (95% CI 4.5-8.4) for the 43 patients born between 1991 and 1994 is thought to be a more accurate estimate for respiratory chain disorders presenting in childhood. Combining our data with a previous study on prevalence of adult-onset respiratory chain disorders predicts a minimum birth prevalence of 13.1/100 000 or 1/7634 for respiratory chain disorders with onset at any age.

Published
2003
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