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13. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Author

Farmer, J. R., Foldvari, Z., Ujhazi, B., De Ravin, S. S., Chen, K., Bleesing, J. J. H., Schuetz, C., Al-Herz, W., Abraham, R. S., Joshi, A. Y., Costa-Carvalho, B. T., Buchbinder, D., Booth, C., Reiff, A., Ferguson, P. J., Aghamohammadi, A., Abolhassani, H., Puck, J. M., Adeli, M., Cancrini, C., Palma, P., Bertaina, A., Locatelli, Franco, Di Matteo, G., Geha, R. S., Kanariou, M. G., Lycopoulou, L., Tzanoudaki, M., Sleasman, J. W., Parikh, S., Pinero, G., Fischer, B. M., Dbaibo, G., Unal, E., Patiroglu, T., Karakukcu, M., Al-Saad, K. K., Dilley, M. A., Pai, S. -Y., Dutmer, C. M., Gelfand, E. W., Geier, C. B., Eibl, M. M., Wolf, H. M., Henderson, L. A., Hazen, M. M., Bonfim, C., Wolska-Kusnierz, B., Butte, M. J., Hernandez, J. D., Nicholas, S. K., Stepensky, P., Chandrakasan, S., Miano, M., Westermann-Clark, E., Goda, V., Krivan, G., Holland, S. M., Fadugba, O., Henrickson, S. E., Ozen, A., Karakoc-Aydiner, E., Baris, S., Kiykim, A., Bredius, R., Hoeger, B., Boztug, K., Pashchenko, O., Neven, B., Moshous, D., de Villartay, J. -P., Bousfiha, A. A., Hill, H. R., Notarangelo, L. D., Walter, J. E., Locatelli F. (ORCID:0000-0002-7976-3654), Farmer, J. R., Foldvari, Z., Ujhazi, B., De Ravin, S. S., Chen, K., Bleesing, J. J. H., Schuetz, C., Al-Herz, W., Abraham, R. S., Joshi, A. Y., Costa-Carvalho, B. T., Buchbinder, D., Booth, C., Reiff, A., Ferguson, P. J., Aghamohammadi, A., Abolhassani, H., Puck, J. M., Adeli, M., Cancrini, C., Palma, P., Bertaina, A., Locatelli, Franco, Di Matteo, G., Geha, R. S., Kanariou, M. G., Lycopoulou, L., Tzanoudaki, M., Sleasman, J. W., Parikh, S., Pinero, G., Fischer, B. M., Dbaibo, G., Unal, E., Patiroglu, T., Karakukcu, M., Al-Saad, K. K., Dilley, M. A., Pai, S. -Y., Dutmer, C. M., Gelfand, E. W., Geier, C. B., Eibl, M. M., Wolf, H. M., Henderson, L. A., Hazen, M. M., Bonfim, C., Wolska-Kusnierz, B., Butte, M. J., Hernandez, J. D., Nicholas, S. K., Stepensky, P., Chandrakasan, S., Miano, M., Westermann-Clark, E., Goda, V., Krivan, G., Holland, S. M., Fadugba, O., Henrickson, S. E., Ozen, A., Karakoc-Aydiner, E., Baris, S., Kiykim, A., Bredius, R., Hoeger, B., Boztug, K., Pashchenko, O., Neven, B., Moshous, D., de Villartay, J. -P., Bousfiha, A. A., Hill, H. R., Notarangelo, L. D., Walter, J. E., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Background: Although autoimmunity and hyperinflammation secondary to recombination activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series. Objective: Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency. Methods: In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology. Results: Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. Most patients (55.6%) presented with more than 1 autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median, 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in most cases (64.7%, 73.7%, and 71.4% for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients. Conclusions: Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multilineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management.

Published
2019

15. Poster session 4: Friday 5 December 2014, 08:30-12:30Location: Poster area

Author

Orii M, Tanimoto T, Yokoyama M, Ota S, Kubo T, Hirata K, Tanaka A, Imanishi T, Akasaka T, Michelsen M, Pena A, Mygind N, Hoest N, Prescott E, Abd El Dayem S, Battah A, Abd El Azzez F, Ahmed A, Fattoh A, Ismail R, Andjelkovic K, Kalimanovska Ostric D, Nedeljkovic I, Andjelkovic I, Rashid H, Abuel Enien H, Ibraheem M, Vago H, Toth A, Csecs I, Czimbalmos C, Suhai FI, Kecskes K, Becker D, Simor T, Merkely B, D'ascenzi F, Pelliccia A, Natali B, Cameli M, Lisi M, Focardi M, Corrado D, Bonifazi M, Mondillo S, Zaha V, Kim G, Su K, Zhang J, Mikush N, Ross J, Palmeri M, Young L, Tadic M, Ilic S, Celic V, Jaimes C, Gonzalez Mirelis J, Gallego M, Goirigolzarri J, Pellegrinet M, Poli S, Prati G, Vriz O, Di Bello V, Carerj S, Zito C, Mateescu A, Popescu B, Antonini Canterin F, Chatzistamatiou E, Moustakas G, Memo G, Konstantinidis D, Mpampatzeva Vagena I, Manakos K, Traxanas K, Vergi N, Feretou A, Kallikazaros I, Hewing B, Theres L, Dreger H, Spethmann S, Stangl K, Baumann G, Knebel F, Uejima T, Itatani K, Nakatani S, Lancellotti P, Seo Y, Zamorano J, Ohte N, Takenaka K, Naar J, Mortensen L, Johnson J, Winter R, Shahgaldi K, Manouras A, Braunschweig F, Stahlberg M, Coisne D, Al Arnaout AM, Tchepkou C, Raud Raynier P, Diakov C, Degand B, Christiaens L, Barbier P, Mirea O, Cefalu C, Savioli G, Guglielmo M, Maltagliati A, O'neill L, Walsh K, Hogan J, Manzoor T, Ahern B, Owens P, Sengelov M, Biering Sorensen T, Jorgensen P, Bruun N, Fritz Hansen T, Bech J, Olsen F, Sivertsen J, Jensen J, Marta L, Abecasis J, Reis C, Ribeiras R, Andrade M, Mendes M, D'andrea A, Stanziola A, Di Palma E, Martino M, Lanza M, Betancourt V, Maglione M, Calabro' R, Russo M, Bossone E, Vogt MO, Meierhofer Ch, Rutz T, Fratz S, Ewert P, Roehlig Ch, Kuehn A, Storsten P, Eriksen M, Remme E, Boe E, Smiseth O, Skulstad H, Ereminiene E, Ordiene R, Ivanauskas V, Vaskelyte J, Stoskute N, Kazakauskaite E, Benetis R, Marketou M, Parthenakis F, Kontaraki J, Zacharis E, Maragkoudakis S, Logakis J, Roufas K, Vougia D, Vardas P, Dado E, Knuti G, Djamandi J, Shota E, Sharka I, Saka J, Halmai L, Nemes A, Kardos A, Neubauer S, Kurnicka K, Domienik Karlowicz J, Lichodziejewska B, Goliszek S, Grudzka K, Krupa M, Dzikowska Diduch O, Ciurzynski M, Pruszczyk P, Chung H, Kim J, Yoon Y, Min P, Lee B, Hong B, Rim S, Kwon H, Choi E, Soya O, Kuryata O, Kakihara R, Naruse C, Inayoshi A, El Sebaie M, Frer A, Abdelsamie M, Eldamanhory A, Ciampi Q, Cortigiani L, Simioniuc A, Manicardi C, Villari B, Picano E, Sicari R, Ferferieva V, Deluyker D, Lambrichts I, Rigo J, Bito V, Kuznetsov V, Yaroslavskaya E, Krinochkin D, Pushkarev G, Gorbatenko E, Trzcinski P, Michalski B, Lipiec P, Szymczyk E, Peczek L, Nawrot B, Chrzanowski L, Kasprzak J, Todaro M, Khandheria B, Cusma Piccione M, La Carrubba S, Oreto G, Di Bella G, Gunyeli E, Oliveira Da Silva C, Sahlen A, Spampinato R, Tasca M, Roche E. 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Fabregat Andres, O, Estornell Erill, J, Cubillos Arango, A, Bochard Villanueva, B, Chacon Hernandez, N, Higueras Ortega, L, Perez Bosca, L, Paya Serrano, R, Ridocci Soriano, F, Cortijo Gimeno, J, Mzoughi, K, Zairi, I, Jabeur, M, Ben Moussa, F, Mrabet, K, Kamoun, S, Fennira, S, Ben Chaabene, A, Kraiem, S, Schnell, F, Betancur, J, Daudin, M, Simon, A, Lentz, P, Tavard, F, Hernandes, A, Carre, F, Garreau, M, Donal, E, Abduch, M, Vieira, M, Antunes, M, Mathias, W, Mady, C, Arteaga, E, Alencar, A, Tesic, M, Djordjevic Dikic, A, Beleslin, B, Giga, V, Trifunovic, D, Petrovic, O, Jovanovic, I, Petrovic, M, Stepanovic, J, Vujisic Tesic, B, Cha, J, Kim, Kh, Bergler Klein, J, Geier, C, Maurer, G, Gyongyosi, M, Cortes Garcia, M, Oliva, M, Navas, M, Orejas, M, Rabago, R, Martinez, M, Briongos, S, Romero, A, Rey, M, Farre, J, Ruisanchez Villar, C, Ruiz Guerrero, L, Rubio Ruiz, S, Lerena Saenz, P, Gonzalez Vilchez, F, Hernandez Hernandez, J, Armesto Alonso, S, Blanco Alonso, R, Martin Duran, R, Gonzalez Gay, M, Novo, G, Marturana, I, Bonomo, V, Arvigo, L, Evola, V, Karfakis, G, Lo Presti, M, Verga, S, Novo, S, Petroni, R, Acitelli, A, Bencivenga, S, Cicconetti, M, Di Mauro, M, Petroni, A, Romano, S, Penco, M, Park, S, Kim, S, Kim, M, Shim, W, Majstorovic, A, Ivanovic, B, Driessen, Mm, Meijboom, F, Mertens, L, Dragulescu, A, Friedberg, M, De Stefano, F, Santoro, C, Buonauro, A, Muscariello, R, Lo Iudice, F, Ierano, P, Esposito, R, Galderisi, M, Sunbul, M, Kivrak, T, Durmus, E, Yildizeli, B, Mutlu, B, Rodrigues, A, Daminello, E, Echenique, L, Cordovil, A, Oliveira, W, Monaco, Ch, Lira, E, Fischer, Ch, Morhy, S, Mignot, A, Jaussaud, J, Chevalier, L, Lafitte, S, Curci, V, Alvino, F, Ikonomidis, I, Pavlidis, G, Lambadiari, V, Kousathana, F, Triantafyllidi, H, Varoudi, M, Dimitriadis, G, Lekakis, J, Cho, J, Cho, E, Yoon, H, Ihm, Sh, Lee, J, Molnar, Aa, Kovacs, A, Apor, A, Tarnoki, A, Tarnoki, D, Horvath, T, Maurovich Horvat, P, Jermendy, G, Kiss, R, Al Habbaa, A, Petrovic Nagorni, S, Ciric Zdravkovic, S, Stanojevic, D, Jankovic Tomasevic, R, Atanaskovic, V, Mitic, V, Todorovic, L, Dakic, S, Park, J, Choi, J, Kim, Sh, Kwon, Y, Jin, H, Coppola, C, Piscopo, G, Galletta, F, Maurea, C, Esposito, E, Barbieri, A, Maurea, N, Kaldararova, M, Tittel, P, Kantorova, A, Vrsanska, V, Kollarova, E, Hraska, V, Nosal, M, Ondriska, M, Masura, J, Simkova, I, Tadeu, I, Azevedo, O, Lourenco, M, Luis, F, Lourenco, A, Planinc, I, Bagadur, G, Bijnens, B, Ljubas, J, Baricevic, Z, Skoric, B, Velagic, V, Milicic, D, Cikes, M, Campanale, Cm, Di Maria, S, Mega, S, Nusca, A, Marullo, F, Di Sciascio, G, El Tahlawi, M, Abdallah, M, Gouda, M, Gad, M, Elawady, M, Igual Munoz, B, Maceira Gonzalez Alicia, A, Donate Betolin, L, Vazquez Sanchez Alejandro, A, Valera Martinez, F, Sepulveda Sanchez, P, Cervera Zamora, A, Piquer Gil Marina, M, Montero Argudo, A, Naka, K, Evangelou, D, Lakkas, L, Kalaitzidis, R, Bechlioulis, A, Gkirdis, I, Tzeltzes, G, Nakas, G, Pappas, K, Michalis, L, Mansencal, N, Bagate, F, Arslan, M, Siam Tsieu, V, Deblaise, J, El Mahmoud, R, Dubourg, O, Wierzbowska Drabik, K, Plewka, M, Bandera, F, Generati, G, Pellegrino, M, Alfonzetti, E, Labate, V, Villani, S, Gaeta, M, Guazzi, M, Grycewicz, T, Szymanska, K, Grabowicz, W, Lubinski, A, Sotaquira, M, Caiani, E, Garcia Gonzalez, P, De La Espriella Juan, R, Albiach Montanana, C, Berenguer Jofresa, A, Perez Bosca, J, Cheng, Hl, Huang, Ch, Wang, Yc, Chou, Wh, Melnikov, N, Kolunin, G, Enina, T, Sierraalta, W, Le Bihan, D, Barretto, R, Assef, J, Gospos, M, Buffon, M, Ramos, A, Garcia, A, Pinto, I, Souza, A, Mueller, H, Reverdin, S, Ehret, G, Conti, L, Dos Santos, S, Abdel Moneim, S, Nhola, Lf, Huang, R, Kohli, M, Longenbach, S, Green, M, Villarraga, Hr, Bordun, Ka, Jassal, D, Mulvagh, Sl, Evangelista, A, Madeo, A, Piras, P, Giordano, F, Giura, G, Teresi, L, Gabriele, S, Re, F, Puddu, P, Torromeo, C, Suwannaphong, S, Vathesatogkit, P, See, O, Yamwong, S, Katekao, W, Sritara, P, Iliuta, L, Szulik, M, Streb, W, Wozniak, A, Lenarczyk, R, Sliwinska, A, Kalarus, Z, Kukulski, T, Weng, Kp, Lin, Cc, Hein, S, Lehmann, L, Kossack, M, Juergensen, L, Katus, H, Hassel, D, Turrini, F, Scarlini, S, Giovanardi, P, Messora, R, Mannucci, C, Bondi, M, Olander, R, Sundholm, J, Ojala, T, Andersson, S, Sarkola, T, Karolyi, M, Kocsmar, I, Raaijmakers, R, Kitslaar, P, Szilveszter, B, Tissue Doppler echocardiography research, Work, VFM international collaboration, Group, MTA SE Lendület Cardiovascular Imaging Research Group, Heart, Vascular Center Semmelweis University Budapest, Hungary, and Policino, Salvatore

Subjects
Medical education, business.industry, Medicine, Radiology, Nuclear Medicine and imaging, Friday 5 December 2014, General Medicine, Session (computer science), Cardiology and Cardiovascular Medicine, business
Published
2014

17. Time-dependent degree-degree correlations in epileptic brain networks: from assortative to dissortative mixing

Author

Geier, C., Lehnertz, K., and Bialonski, S.

Subjects
assortativity, pre-seizure states, clustering coefficient, time-dependence, epileptic brain networks, EEG, daily rhythms, Living matter, Original Research, Neuroscience
Abstract

We investigate the long-term evolution of degree-degree correlations (assortativity) in functional brain networks from epilepsy patients. Functional networks are derived from continuous multi-day, multi-channel electroencephalographic data, which capture a wide range of physiological and pathophysiological activities. In contrast to previous studies which all reported functional brain networks to be assortative on average, even in case of various neurological and neurodegenerative disorders, we observe large fluctuations in time-resolved degree-degree correlations ranging from assortative to dissortative mixing. Moreover, in some patients these fluctuations exhibit some periodic temporal structure which can be attributed, to a large extent, to daily rhythms. Relevant aspects of the epileptic process, particularly possible pre-seizure alterations, contribute marginally to the observed long-term fluctuations. Our findings suggest that physiological and pathophysiological activity may modify functional brain networks in a different and process-specific way. We evaluate factors that possibly influence the long-term evolution of degree-degree correlations.

Published
2015
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18. The JEM-EUSO global light system laser station prototype

Author

Hunt, Patrick, primary, Eser, Johannes, additional, Bachman, Randy, additional, Manz, Mike, additional, Wiencke, Lawrence, additional, Baron, C., additional, Bigler, C., additional, Bruzgo, D., additional, Burg, M., additional, Cain, A., additional, Cummings, Austin, additional, Evans, Anna, additional, Finch, W., additional, Fruit, J., additional, Gallmeyer, T., additional, Geier, C., additional, Gossman, J., additional, Hirsch, D., additional, Hanley, R., additional, Osieczanek, A., additional, Smith, I., additional, and Wills, T., additional

Published
2016
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20. Localization of lysosomal acid phosphatase mRNA in mouse tissues

Author

J. Kreysing, K von Figura, H Boettcher, Geier C, and Regina Pohlmann

Subjects
Male, Histology, Ratón, Acid Phosphatase, Biology, Mice, 03 medical and health sciences, 0302 clinical medicine, Lysosome, Complementary DNA, Testis, medicine, Animals, RNA, Messenger, Northern blot, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Messenger RNA, digestive, oral, and skin physiology, Acid phosphatase, Nucleic Acid Hybridization, DNA, Blotting, Northern, Embryo, Mammalian, Molecular biology, Lysosomal acid phosphatase, Enzyme, medicine.anatomical_structure, chemistry, biology.protein, Anatomy, Lysosomes, 030217 neurology & neurosurgery
Abstract

We studied the expression of lysosomal acid phosphatase (LAP) in mouse by hybridizing Northern blots and tissue sections with the mouse LAP cDNA. Three mRNA species of 2.3, 3.2 and 5.2 KB were identified, which differ in the length of their 3' untranslated region (UTR). The 3.2 KB mRNA is expressed in equal amounts in all tissues and represents the major species in most tissues, whereas the amounts of the 2.3 and 5.2 KB species differ. In situ hybridization of different tissues of adult mice showed a uniform expression of LAP, as expected for a housekeeping gene, except in testis and brain. In testis we found an increase in the LAP mRNA level in spermatocytes. By Northern blot analysis of young mouse testis, this increase could be attributed to late pachytene primary spermatocytes or secondary spermatocytes. In brain tissue the neurons were predominantly labeled, especially the Purkinje and pyramidal cells, whereas glial cells expressed only low amounts of LAP mRNA. Very high LAP expression was also found in the epithelial cells of the choroid plexus. Analysis of LAP expression during mouse embryonic development between Days 9.5 and 17.5 revealed a prominent expression relative to other tissues in the neural tube from Day 9.5 to Day 13.5.

Published
1992

21. Molecular Cloning of the Mouse Lysosomal Acid Phosphatase

Author

von Figura K, Geier C, and Regina Pohlmann

Subjects
Acid Phosphatase, Molecular Sequence Data, Molecular cloning, Biochemistry, Mice, 03 medical and health sciences, 0302 clinical medicine, Sequence Homology, Nucleic Acid, Complementary DNA, Lysosome, medicine, Animals, Humans, Amino Acid Sequence, 030212 general & internal medicine, Cloning, Molecular, Peptide sequence, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Mannose 6-phosphate receptor, Base Sequence, biology, Chemistry, Acid phosphatase, Molecular biology, Rats, Lysosomal acid phosphatase, medicine.anatomical_structure, Enzyme, biology.protein, Lysosomes
Abstract

The mouse cDNA for lysosomal acid phosphatase was cloned. The deduced amino-acid sequence shows 89 and 96% identity with that of the human and rat enzyme, respectively. Namely all residues known to be important for the structure, catalytic activity and transport of lysosomal acid phosphatase are conserved among the three species.

Published
1991

25. Imaging the knee: Ligaments

Author

Nissman, Daniel B., primary, Hobbs, R. Hal, additional, Pope, Thomas L., additional, Geier, C. David, additional, and Conway, William F., additional

Published
2008
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26. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

Author

Geier, C., primary, Gehmlich, K., additional, Ehler, E., additional, Hassfeld, S., additional, Perrot, A., additional, Hayess, K., additional, Cardim, N., additional, Wenzel, K., additional, Erdmann, B., additional, Krackhardt, F., additional, Posch, M. G., additional, Osterziel, K. J., additional, Bublak, A., additional, Nagele, H., additional, Scheffold, T., additional, Dietz, R., additional, Chien, K. R., additional, Spuler, S., additional, Furst, D. O., additional, Nurnberg, P., additional, and Ozcelik, C., additional

Published
2008
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35. A quantitative co-localization analysis of large unspliced tenascin-CL and laminin-5/ gamma2-chain in basement membranes of oral squamous cell carcinoma by confocal laser scanning microscopy.

Author

Franz M, Hansen T, Borsi L, Geier C, Hyckel P, Schleier P, Richter P, Altendorf-Hofmann A, Kosmehl H, and Berndt A

Abstract

Background: A structural interaction of the oncofetal large tenascin-C splice variants (Tn-C(L)) and the gamma2-chain of laminin-5 (Ln-5/gamma2) was recently demonstrated in oral squamous cell carcinoma (OSCC). In situ different patterns of co-localization and co-deposition of both proteins could be detected. Especially the co-localization in re-established basement membrane (BM) structures seemed to be biologically meaningful within the process of tumour progression. Methods: The amount of Tn-C(L) incorporated in reorganized OSCC BM structures at the tumour margins was investigated by a laser scanning microscopy-based quantitative co-localization analysis. Results: In the BM of normal oral mucosa no Tn-C(L) could be detected. In dysplastic and neoplastic oral mucosa a distinct co-localization of Tn-C(L) and Ln-5/gamma2 in the BM region could be observed. The extent of Tn-C(L) arrangement into reorganized BM structures correlated with malignancy grade. Conclusions: The results suggest at first, a modulation of carcinomatous BM structures by the inclusion of oncofetal matrix proteins during tumour progression and secondly, the BM incorporation of the adhesion-modulating molecule Tn-C(L) as a pre-invasive structural phenomenon in OSCC. [ABSTRACT FROM AUTHOR]

Published
2007
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37. Human lysosomal acid phosphatase: cloning, expression and chromosomal assignment.

Author

Pohlmann, R., Krentler, C., Schmidt, B., Schröder, W., Lorkowski, G., Culley, J., Mersmann, G., Geier, C., Waheed, A., and Gottschalk, S.

Abstract

A 2112‐bp cDNA clone (lambda CT29) encoding the entire sequence of the human lysosomal acid phosphatase (EC 3.1.3.2) was isolated from a lambda gt11 human placenta cDNA library. The cDNA hybridized with a 2.3‐kb mRNA from human liver and HL‐60 promyelocytes. The gene for lysosomal acid phosphatase was localized to human chromosome 11. The cDNA includes a 12‐bp 5′ non‐coding region, an open reading frame of 1269 bp and an 831‐bp 3′ non‐coding region with a putative polyadenylation signal 25 bp upstream of a 3′ poly(A) tract. The deduced amino acid sequence reveals a putative signal sequence of 30 amino acids followed by a sequence of 393 amino acids that contains eight potential glycosylation sites and a hydrophobic region, which could function as a transmembrane domain. A 60% homology between the known 23 N‐terminal amino acid residues of human prostatic acid phosphatase and the N‐terminal sequence of lysosomal acid phosphatase suggests an evolutionary link between these two phosphatases. Insertion of the cDNA into the expression vector pSVL yielded a construct that encoded enzymatically active acid phosphatase in transfected monkey COS cells.

Published
1988
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38. High degree of homology between primary structure of human lysosomal acid phosphatase and human prostatic acid phosphatase

Author

von Figura K, Geier C, Henttu P, Christoph Peters, Abdul Waheed, P. Virkkunen, Vihko P, Roiko K, and Regina Pohlmann

Subjects
Male, Acid Phosphatase, Molecular Sequence Data, Biochemistry, Homology (biology), 03 medical and health sciences, Exon, 0302 clinical medicine, Humans, Amino Acid Sequence, 030304 developmental biology, 0303 health sciences, Base Sequence, Chemistry, digestive, oral, and skin physiology, Protein primary structure, Prostate, DNA, equipment and supplies, Protein tertiary structure, Transmembrane domain, Lysosomal acid phosphatase, Prostatic acid phosphatase, Organ Specificity, 030220 oncology & carcinogenesis, Lysosomes, human activities, Cysteine
Abstract

Alignment of the amino-acid sequences of the human lysosomal acid phosphatase (LAP) and human prostatic acid phosphatase (PAP) yielded an extensive homology between the two mature polypeptide chains. In the overlapping part, which extends over the entire PAP sequence and the N-terminal 90% of the LAP sequence, the identity is 49.1%. The LAP has an additional C-terminal sequence, which is encoded by the last exon of the LAP gene. This sequence contains the transmembrane domain of LAP, which is lacking in the secretory PAP. All six cysteine residues as well as 20 out of 27 (LAP) and 26 (PAP) proline residues present in the overlapping part of the proteins are conserved, suggesting that they are involved in stabilization of the tertiary structure of both proteins. Only two out of 8 N-glycosylation sites in LAP and 3 in PAP are conserved, suggesting that the dense N-glycosylation of LAP is related to its function in lysosomes.

Published
1989

39. Structure of the human lysosomal acid phosphatase gene

Author

Regina Pohlmann, Kurt von Figura, and Geier C

Subjects
Signal peptide, Acid Phosphatase, Molecular Sequence Data, Restriction Mapping, Biology, Biochemistry, Chloramphenicol acetyltransferase, 03 medical and health sciences, Exon, 0302 clinical medicine, Leukocytes, Humans, Amino Acid Sequence, Cloning, Molecular, Promoter Regions, Genetic, Gene, 030304 developmental biology, 0303 health sciences, Base Sequence, Nucleic acid sequence, DNA, Exons, Molecular biology, Introns, Housekeeping gene, Lysosomal acid phosphatase, CpG site, Genes, Lysosomes, 030217 neurology & neurosurgery
Abstract

We have isolated a 12-kb genomic clone, which encodes human lysosomal acid phosphatase (LAP), a lysosomal membrane glycoprotein. The human LAP gene has a size of about 9 kb and contains 11 exons (83-947 bp in size). The signal sequence and the first eight amino acids of the LAP protein are encoded by exon 1, the remaining luminal domain by exons 2-10 and the transmembrane and cytoplasmic domains, as well as the 3'-untranslated region, by exon 11. The sequence of the LAP gene confirmed the sequence deduced from the cDNA clone except for nucleotide 1917 in the 3'-untranslated region, where T is changed to C. The 5'-flanking sequence shows promoter activity, as analysed by coupling to bacterial chloramphenicol acetyltransferase. S1-nuclease-protection and primer-extension analysis demonstrate transcription initiation at multiple sites clustering within 23 bp upstream of the translation-initiation codon. Sequences characteristic for promoter regions like TATA-box and CAAT-box sequences could not be identified at typical positions. The absence of these sequences, the high GC content (63.5%), two GC boxes and a region complying with the properties of a CpG island, indicate that LAP is a housekeeping gene.

Published
1989

40. Human lysosomal acid phosphatase: cloning, expression and chromosomal assignment

Author

Wolfgang P. Schröder, Geier C, Regina Pohlmann, G. Mersmann, Bernhard Schmidt, Abdul Waheed, Gerhard Lorkowski, J. Culley, S. Gottschalk, and C. Krentler

Subjects
Placenta, Phosphatase, Acid Phosphatase, Blotting, Western, Molecular Sequence Data, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Complementary DNA, Sequence Homology, Nucleic Acid, Humans, Amino Acid Sequence, Cloning, Molecular, Molecular Biology, Peptide sequence, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, General Immunology and Microbiology, biology, Base Sequence, cDNA library, General Neuroscience, Chromosomes, Human, Pair 11, 030302 biochemistry & molecular biology, Acid phosphatase, Chromosome Mapping, Nucleic Acid Hybridization, DNA, Blotting, Northern, Molecular biology, Amino acid, Lysosomal acid phosphatase, Blotting, Southern, Biochemistry, chemistry, Prostatic acid phosphatase, Gene Expression Regulation, biology.protein, Female, Lysosomes, Software, Research Article
Abstract

A 2112-bp cDNA clone (lambda CT29) encoding the entire sequence of the human lysosomal acid phosphatase (EC 3.1.3.2) was isolated from a lambda gt11 human placenta cDNA library. The cDNA hybridized with a 2.3-kb mRNA from human liver and HL-60 promyelocytes. The gene for lysosomal acid phosphatase was localized to human chromosome 11. The cDNA includes a 12-bp 5' non-coding region, an open reading frame of 1269 bp and an 831-bp 3' non-coding region with a putative polyadenylation signal 25 bp upstream of a 3' poly(A) tract. The deduced amino acid sequence reveals a putative signal sequence of 30 amino acids followed by a sequence of 393 amino acids that contains eight potential glycosylation sites and a hydrophobic region, which could function as a transmembrane domain. A 60% homology between the known 23 N-terminal amino acid residues of human prostatic acid phosphatase and the N-terminal sequence of lysosomal acid phosphatase suggests an evolutionary link between these two phosphatases. Insertion of the cDNA into the expression vector pSVL yielded a construct that encoded enzymatically active acid phosphatase in transfected monkey COS cells.

Published
1988

41. Food or money? Children's brains respond differently to rewards regardless of weight status.

Author

Adise, S., Geier, C. F., Roberts, N. J., White, C. N., and Keller, K. L.

Subjects
*BRAIN physiology, *RISK of childhood obesity, *BODY weight, *COGNITION, *EMOTIONS, *FOOD, *MAGNETIC resonance imaging, *OXYGEN, *REWARD (Psychology), *CHILDREN
Abstract

Summary: Background: Brain responses to both food and monetary rewards have been linked to weight gain and obesity in adults, suggesting that general sensitivity to reward contributes to overeating. However, the relationship between brain reward response and body weight in children is unclear. Objective: The objective of this study was to assess the brain's response to multiple rewards and the relationship to body weight in children. Methods: We tested this by performing functional magnetic resonance imaging while children (7‐ to 11‐years‐old; healthy weight [n = 31], overweight/obese [n = 30]) played a modified card‐guessing task to assess blood‐oxygen‐level‐dependent (BOLD) response to anticipating and winning food and money rewards. Functional magnetic resonance imaging data were analysed using a region of interest and exploratory whole‐brain approach. Results: Region of interest results demonstrated increased BOLD response in the striatum to anticipating food vs. neutral (control) and winning money vs. neutral. Whole‐brain data showed that winning money vs. food was associated with increased activation in the striatum, as well as regions associated with cognitive control and emotion. Notably, for both approaches, these effects were independent of child weight status. Additionally, children's reported food responsiveness and emotional overeating were negatively correlated with the BOLD response in the left cingulate gyrus for winning food vs. money. Conclusion: Overall, findings from this study show that regions associated with reward, cognitive control and emotion may play a role in the brain's response to food and money rewards, independently of how much the child weighs. These findings provide insight into reward sensitivity in children, which may have implications for understanding overeating and the development of obesity. [ABSTRACT FROM AUTHOR]

Published
2019
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42. Distribution and transport of cholesterol in Caenorhabditis elegans

Author

Matyash, V., Geier, C., Henske, A., Mukherjee, S., Hirsh, D., Thiele, C., Barth Grant, Maxfield, F. R., Kurzchalia, T. V., and MDC Library

Subjects
Sucrose, Evolution, Ultraviolet Rays, Cell Surface Receptors, 570 Life Sciences, Spermatocidal Agents, Polyacrylamide Gel Electrophoresis, Polyethylene Glycols, 610 Medical Sciences, Medicine, Vitellogenins, Fluorescence Microscopy, Ergosterol, Animals, Egg Proteins, Biological Transport, Chemical Models, Precipitin Tests, Spermatids, Spermatozoa, Endocytosis, Sterols, Cholesterol, Cardiovascular and Metabolic Diseases, Caenorhabditis Elegans, Mutation, Pharynx, lipids (amino acids, peptides, and proteins), Digestive System
Abstract

Cholesterol transport is an essential process in all multicellular organisms. In this study we applied two recently developed approaches to investigate the distribution and molecular mechanisms of cholesterol transport in Caenorhabditis elegans. The distribution of cholesterol in living worms was studied by imaging its fluorescent analog, dehydroergosterol, which we applied to the animals by feeding. Dehydroergosterol accumulates primarily in the pharynx, nerve ring, excretory gland cell, and gut of L1-L3 larvae. Later, the bulk of dehydroergosterol accumulates in oocytes and spermatozoa. Males display exceptionally strong labeling of spermatids, which suggests a possible role for cholesterol in sperm development. In a complementary approach, we used a photoactivatable cholesterol analog to identify cholesterol-binding proteins in C. elegans. Three major and several minor proteins were found specifically cross-linked to photocholesterol after UV irradiation. The major proteins were identified as vitellogenins. rme-2 mutants, which lack the vitellogenin receptor, fail to accumulate dehydroergosterol in oocytes and embryos and instead accumulate dehydroergosterol in the body cavity along with vitellogenin. Thus, uptake of cholesterol by C. elegans oocytes occurs via an endocytotic pathway involving yolk proteins. The pathway is a likely evolutionary ancestor of mammalian cholesterol transport.

44. Colorado School of Mines mine rescue simulator.

Author

Geier C., Keogh E., Torma-Krajewski J., Geier C., Keogh E., and Torma-Krajewski J.

Abstract

Past mine incidents have shown weaknesses in mine rescue preparedness from poor training in decision-making, leadership and incident command centre (ICC) protocols. The CSM's simulator utilises four computers for the instructor and team, with the instructor monitoring the team's progress. As the team explores it relays information back to the fresh-air base which in turn reports to the command centre, forcing a three-step communication procedure that enhances the team's overall communication skills and develops ICC protocols. The simulator, being decision-based, demands that team decisions be made quickly. Participant feedback has been positive and the simulator has been found useful., Past mine incidents have shown weaknesses in mine rescue preparedness from poor training in decision-making, leadership and incident command centre (ICC) protocols. The CSM's simulator utilises four computers for the instructor and team, with the instructor monitoring the team's progress. As the team explores it relays information back to the fresh-air base which in turn reports to the command centre, forcing a three-step communication procedure that enhances the team's overall communication skills and develops ICC protocols. The simulator, being decision-based, demands that team decisions be made quickly. Participant feedback has been positive and the simulator has been found useful.

45. Colorado School of Mines mine rescue simulator.

Author

Geier, C., Keogh, E., and Torma-Krajewski, J.

Subjects
COMPUTER simulation, MINE rescue work -- Equipment & supplies, MINING schools
Abstract

Previous mine incidents show weaknesses in mine rescue preparedness from poor training in decision making, leadership and incident command center (ICC) protocols. Computer simulations offer a larger range of training opportunities for mine rescue teams focusing on exploration and communications. The mine rescue simulator developed by the Colorado School of Mines and Rite Solutions Inc. utilizes four computers for the instructor and team, with the instructor monitoring the team's progress. As the team explores, it relays information back to the Fresh Air Base, which then reports to the ICC. This forces a three-step communication procedure, enhancing the team's overall communication skills and developing ICC protocols. The simulator is decision-based, demanding team decisions be made quickly. Upon completion, teams commented positively. Generally, participants said that the simulator is useful for learning how to communicate and make decisions during mine rescue emergencies. This mine rescue simulator improves team training, providing effective communications practice with an easy setup and no production interruption. [ABSTRACT FROM AUTHOR]

Published
2014

46. Injury Recovery and the Youth Athlete.

Author

Geier, C. David

Abstract

The article highlights the role of physical therapist in successfully treating youth sports injuries related to overuse problems. Few principles that physical therapist can apply to diagnose overuse related injuries include evaluation of the inability to use the arm or leg, quality of pain and mechanical symptoms such as locking or catching. The importance of developing a trusting relationship with the patient and an effective communicative with the orthopedic surgeon is also highlighted.

Published
2012

48. Poster session 4: Friday 5 December 2014, 08:30-12:30 * Location: Poster area

Author

Orii, M, Tanimoto, T, Yokoyama, M, Ota, S, Kubo, T, Hirata, K, Tanaka, A, Imanishi, T, Akasaka, T, Michelsen, MM, Pena, A, Mygind, ND, Hoest, NB, Prescott, E, Abd El Dayem, SOHA, Battah, AHMED, Abd El Azzez, FATEN, Ahmed, AZZA, Fattoh, AYA, Ismail, REEM, Andjelkovic, K, Kalimanovska Ostric, D, Nedeljkovic, I, Andjelkovic, I, Rashid, HESHAM, Abuel Enien, HESHAM, Ibraheem, MAHER, work, Tissue Doppler echocardiography research, Vago, H, Toth, A, Csecs, I, Czimbalmos, CS, Suhai, F I, Kecskes, K, Becker, D, Simor, T, Merkely, B, D'ascenzi, F, Pelliccia, A, Natali, BM, Cameli, M, Lisi, M, Focardi, M, Corrado, D, Bonifazi, M, Mondillo, S, Zaha, VG, Kim, GE, Su, KN, Zhang, J, Mikush, N, Ross, J, Palmeri, M, Young, LH, Tadic, M, Ilic, SI, Celic, VC, Jaimes, C, Gonzalez Mirelis, J, Gallego, M, Goirigolzarri, J, Pellegrinet, M, Poli, S, Prati, G, Vriz, O, Di Bello, V, Carerj, S, Zito, C, Mateescu, A, Popescu, BA, Antonini-Canterin, F, Chatzistamatiou, E, Moustakas, G, Memo, G, Konstantinidis, D, Mpampatzeva Vagena, I, Manakos, K, Traxanas, K, Vergi, N, Feretou, A, Kallikazaros, I, Hewing, B, Theres, L, Dreger, H, Spethmann, S, Stangl, K, Baumann, G, Knebel, F, Uejima, T, Itatani, K, Nakatani, S, Lancellotti, P, Seo, Y, Zamorano, JL, Ohte, N, Takenaka, K, group, VFM international collaboration, Naar, J, Mortensen, L, Johnson, J, Winter, R, Shahgaldi, K, Manouras, A, Braunschweig, F, Stahlberg, M, Coisne, D, Al Arnaout, A-M, Tchepkou, C, Raud Raynier, P, Diakov, C, Degand, B, Christiaens, L, Barbier, P, Mirea, O, Cefalu, C, Savioli, G, Guglielmo, M, Maltagliati, A, O'neill, L, Walsh, K, Hogan, J, Manzoor, T, Ahern, B, Owens, P, Savioli, G, Guglielmo, M, Mirea, O, Cefalu, C, Barbier, P, Sengelov, M, Biering-Sorensen, T, Jorgensen, PG, Bruun, NE, Fritz-Hansen, T, Bech, J, Olsen, FJ, Sivertsen, J, Jensen, JS, Marta, L, Abecasis, J, Reis, C, Ribeiras, R, Andrade, MJ, Mendes, M, D'andrea, A, Stanziola, A, Di Palma, E, Martino, M, Lanza, M, Betancourt, V, Maglione, M, Calabro', R, Russo, MG, Bossone, E, Vogt, M O, Meierhofer, CH, Rutz, TH, Fratz, S, Ewert, P, Roehlig, CH, Kuehn, A, Storsten, P, Eriksen, M, Remme, EW, Boe, E, Smiseth, OA, Skulstad, H, Ereminiene, E, Ordiene, R, Ivanauskas, V, Vaskelyte, J, Stoskute, N, Kazakauskaite, E, Benetis, R, Marketou, M, Parthenakis, F, Kontaraki, J, Zacharis, E, Maragkoudakis, S, Logakis, J, Roufas, K, Vougia, D, Vardas, P, Dado, E, Dado, E, Knuti, G, Djamandi, J, Shota, E, Sharka, I, Saka, J, Halmai, L, Nemes, A, Kardos, A, Neubauer, S, Kurnicka, K, Domienik-Karlowicz, J, Lichodziejewska, B, Goliszek, S, Grudzka, K, Krupa, M, Dzikowska-Diduch, O, Ciurzynski, M, Pruszczyk, P, Chung, H, Kim, JY, Yoon, YW, Min, PK, Lee, BK, Hong, BK, Rim, SJ, Kwon, HM, Choi, EY, Soya, OV, Kuryata, OV, Kakihara, R, Naruse, C, Inayoshi, A, El Sebaie, MAHA, Frer, ABDEL, Abdelsamie, MAGDY, Eldamanhory, AHMED, Ciampi, Q, Cortigiani, L, Simioniuc, A, Manicardi, C, Villari, B, Picano, E, Sicari, R, Ferferieva, V, Deluyker, D, Lambrichts, I, Rigo, JM, Bito, V, Kuznetsov, VA, Yaroslavskaya, EI, Krinochkin, DV, Pushkarev, GS, Gorbatenko, EA, Trzcinski, P, Michalski, BW, Lipiec, P, Szymczyk, E, Peczek, L, Nawrot, B, Chrzanowski, L, Kasprzak, JD, Todaro, MC, Zito, C, Khandheria, BK, Cusma-Piccione, M, La Carrubba, S, Antonini-Canterin, F, Di Bello, V, Oreto, G, Di Bella, G, Carerj, S, Gunyeli, E, Oliveira Da Silva, C, Sahlen, A, Manouras, A, Winter, R, Shahgaldi, K, Spampinato, RA, Tasca, M, Roche E Silva, JG, Strotdrees, E, Schloma, V, Dmitrieva, Y, Dobrovie, M, Borger, MA, Mohr, FW, Einarsen, E, Cramariuc, D, Lonnebakken, MT, Boman, K, Gohlke-Barwolf, C, Chambers, JB, Gerdts, E, Calin, A, Rosca, M, Beladan, CC, Mirescu Craciun, A, Gurzun, MM, Mateescu, A, Enache, R, Ginghina, C, Popescu, BA, Antova, E, Georgievska Ismail, LJ, Srbinovska, E, Andova, V, Peovska, I, Davceva, J, Otljanska, M, Vavulkis, M, Tsuruta, H, Kohsaka, S, Murata, M, Yasuda, R, Dan, M, Yashima, F, Inohara, T, Maekawa, Y, Hayashida, K, Fukuda, K, Migliore, R, Adaniya, ME, Barranco, MA, Miramont, G, Gonzalez, S, Tamagusuku, H, Abid, L, Ben Kahla, S, Charfeddine, S, Abid, D, Kammoun, S, Amano, M, Izumi, C, Miyake, M, Tamura, T, Kondo, H, Kaitani, K, Nakagawa, Y, Ghulam Ali, S, Fusini, L, Tamborini, G, Muratori, M, Gripari, P, Bottari, V, Celeste, F, Cefalu', C, Alamanni, F, Pepi, M, Obase, K, Mor-Avi, V, Weinert, L, Lang, R, Teixeira, R, Monteiro, R, Garcia, J, Ribeiro, M, Cardim, N, Goncalves, L, Miglioranza, MH, Muraru, D, Cavalli, G, Addetia, K, Cucchini, U, Mihaila, S, Tadic, M, Veronesi, F, Lang, RM, Badano, L, Galian Gay, L, Gonzalez Alujas, MT, Teixido Tura, G, Gutierrez Garcia, L, Rodriguez-Palomares, JF, Evangelista Masip, A, Conte, L, Fabiani, I, Giannini, C, La Carruba, S, De Carlo, M, Barletta, V, Petronio, AS, Di Bello, V, Mahmoud, H, Al-Ghamdi, M, Ghabashi, A, Salaun, E, Zenses, AS, Evin, M, Collart, F, Pibarot, P, Habib, G, Rieu, R, Fabregat Andres, O, Estornell Erill, J, Cubillos-Arango, A, Bochard-Villanueva, B, Chacon-Hernandez, N, Higueras-Ortega, L, Perez-Bosca, L, Paya-Serrano, R, Ridocci-Soriano, F, Cortijo-Gimeno, J, Mzoughi, K, Zairi, I, Jabeur, M, Ben Moussa, F, Mrabet, K, Kamoun, S, Fennira, S, Ben Chaabene, A, Kraiem, S, Schnell, F, Betancur, J, Daudin, M, Simon, A, Lentz, PA, Tavard, F, Hernandes, A, Carre, F, Garreau, M, Donal, E, Abduch, MCD, Vieira, MLC, Antunes, M, Mathias, W, Mady, C, Arteaga, E, Alencar, AM, Tesic, M, Djordjevic-Dikic, A, Beleslin, B, Giga, V, Trifunovic, D, Petrovic, O, Jovanovic, I, Petrovic, M, Stepanovic, J, Vujisic-Tesic, B, Choi, EY, Cha, JJ, Chung, H, Kim, KH, Yoon, YW, Kim, JY, Lee, BK, Hong, BK, Rim, SJ, Kwon, HM, Bergler-Klein, J, Geier, C, Maurer, G, Gyongyosi, M, Cortes Garcia, M, Oliva, MR, Navas, MA, Orejas, M, Rabago, R, Martinez, ME, Briongos, S, Romero, AM, Rey, M, Farre, J, Ruisanchez Villar, C, Ruiz Guerrero, L, Rubio Ruiz, S, Lerena Saenz, P, Gonzalez Vilchez, FJ, Hernandez Hernandez, JL, Armesto Alonso, S, Blanco Alonso, R, Martin Duran, R, Gonzalez-Gay, MA, Novo, G, Marturana, I, Bonomo, V, Arvigo, L, Evola, V, Karfakis, G, Lo Presti, M, Verga, S, Novo, S, Petroni, R, Acitelli, A, Bencivenga, S, Cicconetti, M, Di Mauro, M, Petroni, A, Romano, S, Penco, M, Park, SM, Kim, SA, Kim, MN, Shim, WJ, Tadic, M, Majstorovic, AM, Ivanovic, BI, Celic, VC, Driessen, M M P, Meijboom, FJ, Mertens, L, Dragulescu, A, Friedberg, MK, De Stefano, F, Santoro, C, Buonauro, A, Muscariello, R, Lo Iudice, F, Ierano, P, Esposito, R, Galderisi, M, Sunbul, M, Kivrak, T, Durmus, E, Yildizeli, B, Mutlu, B, Rodrigues, AC, Daminello, E, Echenique, LS, Cordovil, A, Oliveira, W, Monaco, CH, Lira, E, Fischer, CH, Vieira, M, Morhy, S, Mignot, A, Jaussaud, J, Chevalier, L, Lafitte, S, D'ascenzi, F, Cameli, M, Curci, V, Alvino, F, Lisi, M, Focardi, M, Corrado, D, Bonifazi, M, Mondillo, S, Ikonomidis, I, Pavlidis, G, Lambadiari, V, Kousathana, F, Triantafyllidi, H, Varoudi, M, Dimitriadis, G, Lekakis, J, Cho, J S, Cho, EJ, Yoon, HJ, Ihm, SH, Lee, JH, Molnar, A A, Kovacs, A, Apor, A, Tarnoki, AD, Tarnoki, DL, Horvath, T, Maurovich-Horvat, P, Jermendy, GY, Kiss, RG, Merkely, B, Al-Habbaa, A, Petrovic-Nagorni, S, Ciric-Zdravkovic, S, Stanojevic, D, Jankovic-Tomasevic, R, Atanaskovic, V, Mitic, V, Todorovic, L, Dakic, S, Park, J S, Choi, JH, Kim, SH, Choi, JH, Kwon, YS, Jin, HY, Coppola, C, Piscopo, G, Galletta, F, Maurea, C, Esposito, E, Barbieri, A, Maurea, N, Kaldararova, M, Tittel, P, Kantorova, A, Vrsanska, V, Kollarova, E, Hraska, V, Nosal, M, Ondriska, M, Masura, J, Simkova, I, Tadeu, I, Azevedo, O, Lourenco, M, Luis, F, Lourenco, A, Planinc, i, Bagadur, G, Bijnens, B, Ljubas, J, Baricevic, Z, Skoric, B, Velagic, V, Milicic, D, Cikes, M, Campanale, C M, Di Maria, S, Mega, S, Nusca, A, Marullo, F, Di Sciascio, G, El Tahlawi, M, Abdallah, M, Gouda, M, Gad, MARWA, Elawady, M, Igual Munoz, B, Maceira Gonzalez Alicia, AMG, Estornell Erill, JEE, Donate Betolin, LDB, Vazquez Sanchez Alejandro, AVS, Valera Martinez, FVM, Sepulveda- Sanchez, PSS, Cervera Zamora, ACZ, Piquer Gil Marina, MPG, Montero- Argudo, AMA, Naka, KK, Evangelou, D, Lakkas, L, Kalaitzidis, R, Bechlioulis, A, Gkirdis, I, Tzeltzes, G, Nakas, G, Pappas, K, Michalis, LK, Mansencal, N, Bagate, F, Arslan, M, Siam-Tsieu, V, Deblaise, J, El Mahmoud, R, Dubourg, O, Wierzbowska-Drabik, K, Plewka, M, Kasprzak, JD, Bandera, F, Generati, G, Pellegrino, M, Alfonzetti, E, Labate, V, Villani, S, Gaeta, M, Guazzi, M, Bandera, F, Generati, G, Pellegrino, M, Labate, V, Alfonzetti, E, Guazzi, M, Generati, G, Bandera, F, Pellegrino, M, Labate, V, Alfonzetti, E, Guazzi, M, Grycewicz, T, Szymanska, K, Grabowicz, W, Lubinski, A, Sotaquira, M, Pepi, M, Tamborini, G, Caiani, EG, Bochard Villanueva, B, Chacon-Hernandez, N, Fabregat-Andres, O, Garcia-Gonzalez, P, Cubillos-Arango, A, De La Espriella-Juan, R, Albiach-Montanana, C, Berenguer-Jofresa, A, Perez-Bosca, JL, Paya-Serrano, R, Cheng, H-L, Huang, C-H, Wang, Y-C, Chou, W-H, Kuznetsov, VA, Melnikov, NN, Krinochkin, DV, Kolunin, GV, Enina, TN, Sierraalta, W, Le Bihan, D, Barretto, RBM, Assef, JE, Gospos, M, Buffon, M, Ramos, AIO, Garcia, A, Pinto, IMF, Souza, AGMR, Mueller, H, Reverdin, S, Ehret, G, Conti, L, Dos Santos, S, Abdel Moneim, S S, Nhola, L F, Huang, R, Kohli, M, Longenbach, S, Green, M, Villarraga, H R, Bordun, K A, Jassal, D S, Mulvagh, S L, Evangelista, A, Madeo, A, Piras, P, Giordano, F, Giura, G, Teresi, L, Gabriele, S, Re, F, Puddu, P, Torromeo, C, Suwannaphong, S, Vathesatogkit, P, See, O, Yamwong, S, Katekao, W, Sritara, P, Iliuta, L, Szulik, M, Streb, W, Wozniak, A, Lenarczyk, R, Sliwinska, A, Kalarus, Z, Kukulski, T, Weng, K-P, Lin, C-C, Hein, S, Lehmann, L, Kossack, M, Juergensen, L, Katus, HA, Hassel, D, Turrini, F, Scarlini, S, Giovanardi, P, Messora, R, Mannucci, C, Bondi, M, Olander, R, Sundholm, JKM, Ojala, TH, Andersson, S, Sarkola, T, Karolyi, M, Kocsmar, I, Raaijmakers, R, Kitslaar, PH, Horvath, T, Szilveszter, B, Merkely, B, Maurovich-Horvat, P, Heart, Center, Vascular, University, Semmelweis, Budapest, Hungary, and Group, MTA-SE Lendület Cardiovascular Imaging Research

Abstract

Purpose: Although delayed-enhancement magnetic resonance imaging (DEMRI) is essential for diagnosis of cardiac sarcoidosis (CS), the test was not available when pacemaker was implamted. Recently, MR-conditional pacemaker has become avilable and we hypothesized that this device would be useful for diagnosis and management of CS. The aim of this study was to assess the diagnostic ability of MR-conditional pacemaker about CS in patients with advanced A-V nodal block (AAVB). Methods: Twenty-seven AAVB patients (14 men, 13 women; mean age, 69 ± 11 years) who were implanted MR-conditional pacemaker were studied. DEMRI was performed 6 weeks after implantation of permanent pacemaker. In patients with positive for DE, additional examinations like echocardiography, radioisotope imaging, biopsy, and coronary computed-tomography were performed due to confirm the diagnosis of CS and exclude coronary artery disease. Results: DE was observed in 12 patients (44 %). Out of 12 patients, 2 patients were excluded for having prior myocardial infarction. Seven of 10 (70 %) patients were diagnosed of CS by the consensus criteria. Compared with non-CS group, CS group had significantly lower age (61 ± 12 years vs. 72 ± 9 years p = 0.017). There was no significant difference about sex, angiotensin-converting enzyme, brain natriuretic peptide, and left ventricular ejection fraction between 2 groups. Six patients had started corticosteroid therapy and 5 patients (83%) recovered A-V nodal conduction. Conclusion: MR-conditional pacemaker was useful for diagnosis and management of patients with AAVB caused by CS. Figure Cardiac MRI in patient with AV block

Published
2014
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50. 150 Angiotensin I converting enzyme 2 and dilated cardiomyopathy - association of the 8790G>A polymorphism with left ventricular ejection fraction

Author

Kabaeva, Z.H., Perrot, A., Lotalla, A., Hassfeld, S., Geier, C., Dietz, R., and Osterziel, K.J.

Subjects
ANGIOTENSIN converting enzyme, CARDIOMYOPATHIES
Abstract

An abstract of the study "Angiotensin I converting enzyme 2 and dilated cardiomyopathy--association of the 8790G > A polymorphism with left ventricular ejection fraction," by Z. H. Kabaeva et al, is presented.

Published
2004

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