26 results on '"Rating, Dietz"'
Search Results
2. Drug trials on minors in long-term care at the Bethel Foundation from 1949 to 1975—English Version
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Rating, Dietz, Lenhard-Schramm, Niklas, Reuner, Gitta, and Rotzoll, Maike
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- 2023
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3. Prednisolone or tetracosactide depot for infantile epileptic spasms syndrome? A prospective analysis of data embedded within two randomised controlled trials
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Osborne, John P., Edwards, Stuart W., Alber, Fabienne Dietrich, Hancock, Eleanor, Johnson, Anthony L., Kennedy, Colin R., Likeman, Marcus, Lux, Andrew L., Mackay, Mark, Mallick, Andrew, Newton, Richard W., Nolan, Melinda, Pressler, Ronit, Rating, Dietz, Schmitt, Bernhard, Verity, Christopher M., and O'Callaghan, FinbarJ.K.
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- 2023
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4. Have attitudes toward epilepsy improved in Germany over the last 50 years?
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Thorbecke, Rupprecht, Pfäfflin, Margarete, Bien, Christian G., Hamer, Hajo M., Holtkamp, Martin, Rating, Dietz, Schulze-Bonhage, Andreas, Straub, Hans-Beatus, Strzelczyk, Adam, and May, Theodor W.
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- 2023
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5. Attitudes toward epilepsy assessed by the SAPE questionnaire in Germany – Comparison of its psychometric properties and results in a web-based vs. face-to-face survey
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May, Theodor W., Pfäfflin, Margarete, Bien, Christian G., Hamer, Hajo M., Holtkamp, Martin, Rating, Dietz, Schulze-Bonhage, Andreas, Straub, Hans-Beatus, Strzelczyk, Adam, and Thorbecke, Rupprecht
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- 2022
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6. Folker Hanefeld
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Rating, Dietz, primary, Christen, Hans-Jürgen, additional, and Brockmann, Knut, additional
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- 2021
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7. List of Contributors
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Aaen, Gregory, primary, Abroms, Israel F., additional, Ådén, Ulrika, additional, Ahlsten, Gunnar, additional, Aird, Robert B., additional, Al-Zaidy, Samiah A., additional, Andermann, Fred, additional, Anlar, Banu, additional, Arzimanoglou, Alexis, additional, Ashwal, Stephen, additional, Augustine, Erika, additional, Ballaban-Gil, Karen, additional, Bamford, Nigel S., additional, Barlow, Charles F., additional, Bast, Thomas, additional, Bates, David, additional, Baumann, Robert J., additional, Bertini, Enrico, additional, Beya, Alidor, additional, Blaw, Michael, additional, Bodensteiner, John, additional, Bonthius, Daniel J., additional, Brin, Amy E., additional, Brockmann, Knut, additional, Brown, John Keith, additional, Brown, Stuart B., additional, Brumback, Audrey Christine, additional, Bureau, Michelle, additional, Burke, James R., additional, Bye, Annie, additional, Camfield, Carol, additional, Camfield, Peter, additional, Campistol Plana, Jaume, additional, Canale, Dee James, additional, Caneris, Onasis, additional, Caraballo, Roberto H., additional, Caviness, Alison Chantal, additional, Chao, Hsiao-Tuan, additional, Chapman, Catherine A., additional, Chaves-Carballo, Enrique, additional, Cho, Yoon-Jae, additional, Christen, Hans-Jürgen, additional, Chugani, Harry T., additional, Cioni, Giovanni, additional, Clark, David, additional, Cliff, Edward Robert Scheffer, additional, Cochran, Frederick B., additional, Cohen, Bruce H., additional, Cohen, Maynard M., additional, Collins, Kevin, additional, Covanis, Athanasios, additional, Critchley, Macdonald, additional, Cross, J. Helen, additional, Crumrine, Patricia K., additional, Curatolo, Paolo, additional, Davies, Pamela A., additional, deVeber, Gabrielle, additional, De Vivo, Darryl C., additional, de Vries, Linda S., additional, De Waele, Liesbeth, additional, DeMyer, William, additional, Devlin, Anita, additional, Dobyns, William B., additional, Dodson, W. Edwin, additional, Donald, Kirsty, additional, Duffy, Frank H., additional, Dunn, David W., additional, Dunn, Henry G., additional, Dure, Leon S., additional, Dyken, Paul Richard, additional, Encha-Razavi, Férechté, additional, Erenberg, Gerald, additional, Estes, Melinda L., additional, Evrard, Philippe, additional, Ferriero, Donna, additional, Ferry, Peggy, additional, Fine, Archie, additional, Fine, Edward J., additional, Fine, John S., additional, Finkel, Richard S., additional, Fischer, Alain, additional, Fischer, Christine, additional, Fogan, Lance, additional, Fowler, Glenn W., additional, Frank, Yitzchak, additional, Fullerton, Heather J., additional, Furukawa, Tetsuo, additional, Gabriel, Ronald S., additional, Galanopoulou, Aristea S., additional, Gardner-Medwin, David, additional, Garg, Bhuwan, additional, Genton, Pierre, additional, George, Mark S., additional, Gineste, Thierry, additional, Giza, Christopher C., additional, Goemans, Nathalie, additional, Golden, Gerald S., additional, Golden, Jeffrey Alan, additional, Goldstein, Gary W., additional, Gomez, Christopher, additional, Gomez, Manuel R., additional, Gomez, Timothy, additional, Goodkin, Howard P., additional, Gordon, Neil, additional, Gressens, Pierre, additional, Groger, Helmut, additional, Guerrini, Renzo, additional, Gurnett, Christina A., additional, Gussoni, Emanuela, additional, Haas, Richard, additional, Hagberg, Bengt, additional, Haller, Jerome S., additional, Hartman, Adam L., additional, Haruda, Fred, additional, Hirtz, Deborah, additional, Hogan, Gwendolyn R., additional, Hunt, Guy M., additional, Iannaccone, Susan T., additional, Eleanor Inder, Terrie, additional, Ionasescu, Victor, additional, Jansen, Katrien, additional, Jiang, Yuwu, additional, Kaminski, Henry J., additional, Kamoshita, Shigehiko, additional, Kang, Peter B., additional, Kaufman, David M., additional, Kaufmann, Walter E., additional, Kaye, Edward M., additional, Kellaway, Peter, additional, Kelley, Rhona S., additional, Kennedy, Charles, additional, Kim, Young-Min, additional, Kirby, Michael, additional, Kirton, Adam, additional, Kobayashi, Eliane, additional, Kossoff, Eric H., additional, Koutroumanidis, Michail, additional, Krupp, Lauren, additional, Lange, Bernadette M., additional, Lanska, Douglas J., additional, Lanska, Mary Jo, additional, Larsen, Paul D., additional, Lassoff, Samuel J., additional, Laterra, John, additional, Lemieux, Bernard, additional, Lenn, Nicholas J., additional, Logan, William J., additional, Lomax, Elizabeth, additional, Longo, Lawrence D., additional, Lorris Betz, A., additional, Manyam, Bala V., additional, Marks, Warren A., additional, Massey, E. Wayne, additional, Mate, Laszlo J., additional, McKinlay, Ian, additional, McLean, William T., additional, McLellan, Ailsa, additional, Mehler, Mark F., additional, Melchior, Johannes C., additional, Michelson, David J., additional, Miller, Steven P., additional, Miller, Suzanne L., additional, Millichap, J. Gordon, additional, Minns, Robert A., additional, Mizrahi, Eli M., additional, Moser, Ann B., additional, Moshé, Solomon L., additional, Muhle, Hiltrud, additional, Muntoni, Francesco, additional, Naidu, Sakkubai, additional, Narayanan, Vinodh, additional, Nardocci, Nardo, additional, Neil, Jeffrey J., additional, Neumeyer, Ann, additional, Noetzel, Michael J., additional, Nomura, Yoshiko, additional, Nordli, Douglas R., additional, North, Kathryn, additional, Ohtsuka, Yoko, additional, O’Callaghan, Finbar J.K., additional, Packer, Roger J., additional, Pastores, Gregory M., additional, Patterson, Marc C., additional, Pearl, Phillip L., additional, Philippart, Michel, additional, Pihko, Helena S., additional, Piller, Gordon, additional, Platz, Thomas F., additional, Poduri, Annapurna, additional, Pollack, Michael A., additional, Porter, Brenda E., additional, Provis, Michèle, additional, Rating, Dietz, additional, Reich, Harold, additional, Remler, Bernd, additional, Rho, Jong M., additional, Richards, Peter, additional, Richardson, Edward P., additional, Richardson, Sylvia O., additional, Roach, E. Steve, additional, Rose, Arthur L., additional, Rozear, Marvin P., additional, Rubinstein, Lucien J., additional, Rust, Robert S., additional, Saini, Arushi Gahlot, additional, Saint-Anne Dargassies, Suzanne, additional, Sarnat, Harvey B., additional, Sarwar, Mohammad, additional, Satran, Richard, additional, Schneider, Sanford, additional, Schrank, Waltraud, additional, Scott, Rodney C., additional, Seinfeld, Syndi, additional, Selcen, Duygu, additional, Sestan, Nenad, additional, Shapiro, Steven, additional, Sherr, Elliott H., additional, Shevell, Michael, additional, Shield, Lloyd, additional, Sidman, Richard L., additional, Silverstein, Faye S., additional, Sinnreich, Michael, additional, Snead, O. Carter, additional, Solomons, Regan, additional, Soria-Duran, Emilio, additional, Stafstrom, Carl E., additional, Steven Roach, E., additional, Stevens, Harold, additional, Strassburg, Hans Michael, additional, Stumpf, David A., additional, Sullivan, Thomas, additional, Swick, Herbert M., additional, Swisher, Charles N., additional, Takahashi, Takao, additional, Tein, Ingrid, additional, Tochen, Laura, additional, Thomas, Eva E., additional, Thompson, Alan, additional, Toor, Svinder S., additional, Tyler, H. Richard, additional, Uldall, Peter, additional, Urion, David K., additional, Valappil, Ahsan Moosa Naduvil, additional, Van Toorn, Ronald, additional, Vermilion, Jennifer, additional, Vidaver, Doris, additional, Vohr, Betty R., additional, Vollmer, Brigitte, additional, Volpe, Joseph J., additional, Waber, Deborah P., additional, Wainwright, Mark S., additional, Waites, Lucius, additional, Walsh, Christopher, additional, Weindl, Adolf, additional, Whelan, Mary Anne, additional, White, Larry E., additional, Whittemore, Vicky Holets, additional, Wilmshurst, Jo, additional, Wirrell, Elaine, additional, Wolf, Nicole I., additional, Youssef, Paul, additional, Zempel, John, additional, Zoghbi, Huda Y., additional, Zuberi, Sameer M., additional, and Zupanc, Mary, additional
- Published
- 2021
- Full Text
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8. Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial
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Tacke, Moritz, Borggraefe, Ingo, Gerstl, Lucia, Heinen, Florian, Vill, Katharina, Bonfert, Michaela, Bast, Thomas, Neubauer, Bernd Axel, Baumeister, Friedrich, Baethmann, Martina, Bentele, Karl, Blank, Christian, Blank, Harald M., Bode, Harald, Bosch, Friedrich, Brandl, Ulrich, Brockmann, Knut, Dahlem, Peter, Ernst, Jan-Peter, Feldmann, Evemarie, Fiedler, Andreas, Gerigk, Michael, Heß, Soeren, Hikel, Christiane, Hoffmann, Hans-Georg, Kieslich, Matthias, Klepper, Joerg, Kluger, Gerhard, Koch, Hartmut, Koch, Walter, Korinthenberg, Rudolf, Krois, Ilona, Kühne, Hermann, Kurlemann, Gerhard, Mandl, Michaela, Mause, Ulrike, Navratil, Peter, Opp, Joachim, Penzien, Johann, Prietsch, Viola, Quattländer, Axel, Rating, Dietz, Schara, Ulrike, Shamdeen, Mohammed G., Sprinz, Andreas, Wendker-Magrabi, Hildegard, Stephani, Ulrich, Muhle, Hiltrud, Straßburg, Hans-Michael, Töpke, Bärbel, Trollmann, Regina, Tuschen-Hofstätter, Elisabeth, Waltz, Stephan, Weber, Gabriele, Wien, Frank U., Wolff, Markus, Polster, Tilman, Freitag, Hedwig, Sönmez, Ötzcam, Reinhardt, Klaus, Traus, Marion, and Hoovey, Zeecam
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- 2018
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9. Arzneimittelprüfungen an Minderjährigen im Langzeitbereich der Stiftung Bethel 1949–1975
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Rating, Dietz, primary, Lenhard-Schramm, Niklas, additional, Reuner, Gitta, additional, and Rotzoll, Maike, additional
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- 2023
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10. In Memoriam: Folker Hanefeld, MD, PhD, June 28, 1937–May 9, 2022
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Percy, Alan K., primary, Neul, Jeffrey L., additional, and Rating, Dietz, additional
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- 2022
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11. Folker Hanefeld, 1937–2022
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Stephani, Ulrich, primary and Rating, Dietz, additional
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- 2022
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12. Treatment of Infantile Spasms: Report of the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society for Neuropediatrics
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Tibussek, Daniel, Klepper, Jörg, Korinthenberg, Rudolf, Kurlemann, Gerhard, Rating, Dietz, Wohlrab, Gabriele, Wolff, Markus, and Schmitt, Bernhard
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- 2016
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13. Efficacy and Tolerability of Methylprednisolone Pulse Therapy in Childhood Epilepsies Other Than Infantile Spasms
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Bast, Thomas, Richter, Sarah, Ebinger, Friedrich, Rating, Dietz, Wiemer-Kruel, Adelheid, and Schubert-Bast, Susanne
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- 2014
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14. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
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Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, Van Spaendonk, Rosalina M.L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L., Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, De Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P.J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özklnay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, Cathy A., Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, Van De Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I., Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, Van Der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel, Polychronakos, Constantin, Wolf, Nicole I., Bernard, Geneviève, Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, Van Spaendonk, Rosalina M.L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L., Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, De Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P.J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özklnay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, Cathy A., Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, Van De Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I., Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, Van Der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel, Polychronakos, Constantin, Wolf, Nicole I., and Bernard, Geneviève
- Abstract
Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting: This was a multicenter retrospective study using information collected from 3 predominant centers. Patients: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.
- Published
- 2021
15. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
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Pelletier, Félixe, primary, Perrier, Stefanie, additional, Cayami, Ferdy K, additional, Mirchi, Amytice, additional, Saikali, Stephan, additional, Tran, Luan T, additional, Ulrick, Nicole, additional, Guerrero, Kether, additional, Rampakakis, Emmanouil, additional, van Spaendonk, Rosalina M L, additional, Naidu, Sakkubai, additional, Pohl, Daniela, additional, Gibson, William T, additional, Demos, Michelle, additional, Goizet, Cyril, additional, Tejera-Martin, Ingrid, additional, Potic, Ana, additional, Fogel, Brent L, additional, Brais, Bernard, additional, Sylvain, Michel, additional, Sébire, Guillaume, additional, Lourenço, Charles Marques, additional, Bonkowsky, Joshua L, additional, Catsman-Berrevoets, Coriene, additional, Pinto, Pedro S, additional, Tirupathi, Sandya, additional, Strømme, Petter, additional, de Grauw, Ton, additional, Gieruszczak-Bialek, Dorota, additional, Krägeloh-Mann, Ingeborg, additional, Mierzewska, Hanna, additional, Philippi, Heike, additional, Rankin, Julia, additional, Atik, Tahir, additional, Banwell, Brenda, additional, Benko, William S, additional, Blaschek, Astrid, additional, Bley, Annette, additional, Boltshauser, Eugen, additional, Bratkovic, Drago, additional, Brozova, Klara, additional, Cimas, Icíar, additional, Clough, Christopher, additional, Corenblum, Bernard, additional, Dinopoulos, Argirios, additional, Dolan, Gail, additional, Faletra, Flavio, additional, Fernandez, Raymond, additional, Fletcher, Janice, additional, Garcia Garcia, Maria Eugenia, additional, Gasparini, Paolo, additional, Gburek-Augustat, Janina, additional, Gonzalez Moron, Dolores, additional, Hamati, Aline, additional, Harting, Inga, additional, Hertzberg, Christoph, additional, Hill, Alan, additional, Hobson, Grace M, additional, Innes, A Micheil, additional, Kauffman, Marcelo, additional, Kirwin, Susan M, additional, Kluger, Gerhard, additional, Kolditz, Petra, additional, Kotzaeridou, Urania, additional, La Piana, Roberta, additional, Liston, Eriskay, additional, McClintock, William, additional, McEntagart, Meriel, additional, McKenzie, Fiona, additional, Melançon, Serge, additional, Misbahuddin, Anjum, additional, Suri, Mohnish, additional, Monton, Fernando I, additional, Moutton, Sebastien, additional, Murphy, Raymond P J, additional, Nickel, Miriam, additional, Onay, Hüseyin, additional, Orcesi, Simona, additional, Özkınay, Ferda, additional, Patzer, Steffi, additional, Pedro, Helio, additional, Pekic, Sandra, additional, Pineda Marfa, Mercedes, additional, Pizzino, Amy, additional, Plecko, Barbara, additional, Poll-The, Bwee Tien, additional, Popovic, Vera, additional, Rating, Dietz, additional, Rioux, Marie-France, additional, Rodriguez Espinosa, Norberto, additional, Ronan, Anne, additional, Ostergaard, John R, additional, Rossignol, Elsa, additional, Sanchez-Carpintero, Rocio, additional, Schossig, Anna, additional, Senbil, Nesrin, additional, Sønderberg Roos, Laura K, additional, Stevens, Cathy A, additional, Synofzik, Matthis, additional, Sztriha, László, additional, Tibussek, Daniel, additional, Timmann, Dagmar, additional, Tonduti, Davide, additional, van de Warrenburg, Bart P, additional, Vázquez-López, Maria, additional, Venkateswaran, Sunita, additional, Wasling, Pontus, additional, Wassmer, Evangeline, additional, Webster, Richard I, additional, Wiegand, Gert, additional, Yoon, Grace, additional, Rotteveel, Joost, additional, Schiffmann, Raphael, additional, van der Knaap, Marjo S, additional, Vanderver, Adeline, additional, Martos-Moreno, Gabriel Á, additional, Polychronakos, Constantin, additional, Wolf, Nicole I, additional, and Bernard, Geneviève, additional
- Published
- 2020
- Full Text
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16. Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial
- Author
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O'Callaghan, Finbar J K, primary, Edwards, Stuart W, additional, Alber, Fabienne Dietrich, additional, Cortina Borja, Mario, additional, Hancock, Eleanor, additional, Johnson, Anthony L, additional, Kennedy, Colin R, additional, Likeman, Marcus, additional, Lux, Andrew L, additional, Mackay, Mark T, additional, Mallick, Andrew A, additional, Newton, Richard W, additional, Nolan, Melinda, additional, Pressler, Ronit, additional, Rating, Dietz, additional, Schmitt, Bernhard, additional, Verity, Christopher M, additional, Osborne, John P, additional, Abdel Aziz, Maysara, additional, Acharya, Triloknath, additional, Adcock, Carolyn, additional, Jones, Robert, additional, Howells, Rachel, additional, Marsh, Ben, additional, Adejare, Kemi, additional, Adiga, Rashmi, additional, Wheater, Mary, additional, Ahmed, Mansoor, additional, Sawal, Mohammad, additional, Goel, Chhavi, additional, Ahmed, MAS, additional, Alber, Michael, additional, Wolff, Markus, additional, Ruf, Susanne, additional, Al-Kharusi, Asya, additional, Al-Moasseb, Hassan, additional, Arora, Ruchi, additional, Beach, Richard, additional, Atkinson, Patricia, additional, Ayonrinde, Kunle, additional, Bala, Pronab, additional, Bamford, Nicola, additional, Barakat, Nagi, additional, Basheer, Nigel, additional, Baxter, Peter, additional, Mordekar, Santosh, additional, Rittey, Chris, additional, Borggraefe, Ingo, additional, Borusiak, Peter, additional, Cagnoli, Sabine, additional, Brown, Richard, additional, Calvert, Sophie, additional, Cameron, Duncan, additional, Chaniyil, Ramesh, additional, Chinthapalli, Ravi, additional, Chow, Gabriel, additional, Whitehouse, William, additional, Clarke, Vinodhini, additional, Cooper, Chris, additional, Datta, Alexane, additional, D'Costa, Selwyn, additional, de Goede, Christian, additional, Basu, Helen, additional, Deekollu, David, additional, Della Marina, Adela, additional, Dison, Penelope, additional, Dunkley, Colin, additional, Eaton, Megan, additional, Ellison, Julie, additional, Pugh, Robert, additional, Fallon, Penny, additional, Faza, Hani, additional, Choonara, Imti, additional, Morton, Richard, additional, Ratnayaka, Mal, additional, Ferrie, Colin, additional, Freeman, Amanda, additional, Warriner, Stephen, additional, Garcia, Maria, additional, Ghazavi, Malihe, additional, Gibbon, Frances, additional, Gibbs, John, additional, Ginbey, Des, additional, Guarino, Iolanda, additional, Gupta, Rajesh, additional, Hanlon, Mary, additional, Harris, Siân, additional, Munyard, Paul, additional, Hemingway, Cheryl, additional, Eltze, Christin, additional, Kaliakatsos, Marios, additional, Murugan, Velayutham, additional, Robinson, Robert, additional, Tan, Jeen, additional, Hindley, Daniel, additional, Hughes, Adrian, additional, Hussain, Akmal, additional, Boden, Greg, additional, Hussain, Munir, additional, Hussain, Nahin, additional, Dabydeen, Lyvia, additional, Irwin, Kate, additional, Jacobs, Julia, additional, Jauhari, Praveen, additional, Minchom, Philip, additional, Jones, Simon, additional, Karenfort, Michael, additional, Keimer, Reinhard, additional, Kennedy, Colin, additional, Kirkham, Fenella, additional, Whitney, Andrea, additional, Kirkpatrick, Martin, additional, Jollands, Alice, additional, Kneen, Rachel, additional, Iyer, Anand, additional, McTague, Amy, additional, Spinty, Stefan, additional, Kumar, Ramesh, additional, Kurlemann, Gerhard, additional, Lee, Matthew, additional, Jurges, Eman, additional, Levy, Robert, additional, Lewis, Helen, additional, Lewis, Hilary, additional, Lloyd Evans, Andrew, additional, Loh, Ne-Ron, additional, Osborne, John, additional, O'Callaghan, Finbar, additional, Maddicks, Hilary, additional, Luecke, Thomas, additional, Lux, Andrew, additional, Majumdar, Anirban, additional, Vijayakumar, Kayal, additional, MacKay, Mark, additional, Freeman, Jeremy, additional, Hayman, Michael, additional, Kornberg, Andrew, additional, Leventer, Rick, additional, Ryan, Monique, additional, Ware, Tyson, additional, Mancais, Penny, additional, Marinaki, Katina, additional, Massarano, Albert, additional, Mathew, Satheesh, additional, McLellan, Ailsa, additional, Melville, Colin, additional, Mewasingh, Leena, additional, Muhle, Hiltrud, additional, Nagmeldin, Eisawi, additional, Natarajan, Jeyashree, additional, Nelapatla, Suresh, additional, Gondwe, Jailosi, additional, Newton, Richard, additional, Hughes, Imelda, additional, Martland, Tim, additional, McCullagh, Gary, additional, Vassallo, Grace, additional, Nirmal, Stephen, additional, Davis, Suzanne, additional, Patel, Rakesh, additional, Sharpe, Cynthia, additional, Olabi, Anas, additional, O'Neill, Kevin, additional, Gould, Jim, additional, Panzer, Axel, additional, Theophil, Manuela, additional, Parepalli, Srinivas, additional, Hinde, Frank, additional, Smith, Martin, additional, Parker, Alasdair, additional, Chitre, Manali, additional, Philip, Sunny, additional, Gupta, Rajat, additional, Wassmer, Evangeline, additional, Pike, Mike, additional, McShane, Tony, additional, Prakash, Nandhini, additional, Padmakumar, Beena, additional, Pridmore, Clair, additional, Prietsch, Viola, additional, Krieg, Peter, additional, Quinlivan, Ros, additional, Quinn, Michael, additional, Collinson, Andrew, additional, Rajalingam, Usha, additional, Rakshi, Karl, additional, Rao, Tekki, additional, Ravi, Asha, additional, Rifkin, Rob, additional, Roper, Helen, additional, Rowlandson, Piers, additional, Sadleir, Lynette, additional, Sahi, Sanjay, additional, Saraswatula, Arun, additional, O'Sullivan, Siobhan, additional, Saravanan, Kethar, additional, Scammell, Alastair, additional, Rao, Sudhakar, additional, Schubert-Bast, Susanne, additional, Scott, David J, additional, Scott, Fraser, additional, Pye, Matthew, additional, Shah, Ayaz, additional, Stephen, Elma, additional, Shah, Shambhu, additional, Butterfill, Andrew, additional, Shute, Pauline, additional, Singh, Rajeeva, additional, Allogoa, Brigid, additional, Singh, Ravinder, additional, Sinha, Gyanranjan, additional, Sivakumar, Puthuval, additional, Smith, Robert, additional, Sriskandan, Sivaranjini, additional, Steinert, Martin, additional, Strassburg, Michael, additional, Strozzi, Susi, additional, Subramanian, Geeta, additional, and Tandy, Andrew, additional
- Published
- 2018
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17. ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation
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Wolf, Nicole I, primary, Zschocke, Johannes, additional, Jakobs, Cornelis, additional, Rating, Dietz, additional, and Hoffmann, Georg F, additional
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- 2018
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18. Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial
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O'Callaghan, Finbar J K, primary, Edwards, Stuart W, additional, Alber, Fabienne Dietrich, additional, Hancock, Eleanor, additional, Johnson, Anthony L, additional, Kennedy, Colin R, additional, Likeman, Marcus, additional, Lux, Andrew L, additional, Mackay, Mark, additional, Mallick, Andrew A, additional, Newton, Richard W, additional, Nolan, Melinda, additional, Pressler, Ronit, additional, Rating, Dietz, additional, Schmitt, Bernhard, additional, Verity, Christopher M, additional, and Osborne, John P, additional
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- 2017
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19. The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS).
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Osborne, John P., Edwards, Stuart W., Dietrich Alber, Fabienne, Hancock, Eleanor, Johnson, Anthony L., Kennedy, Colin R., Likeman, Marcus, Lux, Andrew L., Mackay, Mark, Mallick, Andrew, Newton, Richard W., Nolan, Melinda, Pressler, Ronit, Rating, Dietz, Schmitt, Bernhard, Verity, Christopher M., and O'Callaghan, Finbar J. K.
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INFANTILE spasms ,ETIOLOGY of diseases ,DOWN syndrome ,STROKE ,TIME management ,NOSOLOGY - Abstract
Objective: To determine the underlying etiologies in a contemporary cohort of infants with infantile spasms and to examine response to treatment. Methods: Identification of the underlying etiology and response to treatment in 377 infants enrolled in a clinical trial of the treatment of infantile spasms between 2007 and 2014 using a systematic review of history, examination, and investigations. They were classified using the pediatric adaptation of International Classification of Diseases, Tenth Revision (ICD‐10). Results: A total of 219 of 377 (58%) had a proven etiology, of whom 128 (58%) responded, 58 of 108 (54%) were allocated hormonal treatment, and 70 of 111 (63%) had combination therapy. Fourteen of 17 (82%, 95% confidence interval [CI] 59% to 94%) infants with stroke and infarct responded (compared to 114 of 202 for the rest of the proven etiology group (56%, 95% CI 48% to 62%, chi‐square 4.3, P = .037): the better response remains when treatment allocation and lead time are taken into account (odds ratio 5.1, 95% CI 1.1 to 23.6, P = .037). Twenty of 37 (54%, 95% CI 38% to 70%) infants with Down syndrome had cessation of spasms compared to 108 of 182 (59%, 95% CI 52% to 66%, chi‐square 0.35, P = .55) for the rest of the proven etiology group. The lack of a significant difference remains after taking treatment modality and lead‐time into account (odds ratio 0.8, 95% CI 0.4 to 1.7, P = .62). In Down syndrome infants, treatment modality did not appear to affect response: 11 of 20 (55%) allocated hormonal therapy responded, compared to 9 of 17 (53%) allocated combination therapy. Significance: This classification allows easy comparison with other classifications and with our earlier reports. Stroke and infarct have a better outcome than other etiologies, whereas Down syndrome might not respond to the addition of vigabatrin to hormonal treatment. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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20. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)
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Micalizzi, Alessia, Poretti, Andrea, Romani, Marta, Ginevrino, Monia, Mazza, Tommaso, Aiello, Chiara, Zanni, Ginevra, Baumgartner, Bastian, Borgatti, Renato, Brockmann, Knut, Camacho, Ana, Cantalupo, Gaetano, Haeusler, Martin, Hikel, Christiane, Klein, Andrea, Mandrile, Giorgia, Mercuri, Eugenio Maria, Rating, Dietz, Romaniello, Romina, Santorelli, Filippo Maria, Schimmel, Mareike, Spaccini, Luigina, Teber, Serap, Von Moers, Arpad, Wente, Sarah, Ziegler, Andrea, Zonta, Andrea, Bertini, Enrico Silvio, Boltshauser, Eugen, Valente, Enza Maria, Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Micalizzi, Alessia, Poretti, Andrea, Romani, Marta, Ginevrino, Monia, Mazza, Tommaso, Aiello, Chiara, Zanni, Ginevra, Baumgartner, Bastian, Borgatti, Renato, Brockmann, Knut, Camacho, Ana, Cantalupo, Gaetano, Haeusler, Martin, Hikel, Christiane, Klein, Andrea, Mandrile, Giorgia, Mercuri, Eugenio Maria, Rating, Dietz, Romaniello, Romina, Santorelli, Filippo Maria, Schimmel, Mareike, Spaccini, Luigina, Teber, Serap, Von Moers, Arpad, Wente, Sarah, Ziegler, Andrea, Zonta, Andrea, Bertini, Enrico Silvio, Boltshauser, Eugen, Valente, Enza Maria, and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)
- Abstract
Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features comprise non-progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia or retinopathy. Recently, loss-of-function variants in the LAMA1 gene were identified in six probands with PBS. Here we report the detailed clinical, neuroimaging and genetic characterization of 18 PBS patients from 15 unrelated families. Biallelic LAMA1 variants were identified in 14 families (93%). The only non-mutated proband presented atypical clinical and neuroimaging features, challenging the diagnosis of PBS. Sixteen distinct variants were identified, which were all novel. In particular, the frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect. No LAMA1 variants could be detected in 27 probands with different cerebellar dysplasias or non-progressive cerebellar ataxia, confirming the strong correlate between LAMA1 variants and PBS.
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- 2016
21. Identification of biallelicLRRK1mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity
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Iida, Aritoshi, primary, Xing, Weirong, additional, Docx, Martine K F, additional, Nakashima, Tomoki, additional, Wang, Zheng, additional, Kimizuka, Mamori, additional, Van Hul, Wim, additional, Rating, Dietz, additional, Spranger, Jürgen, additional, Ohashi, Hirohumi, additional, Miyake, Noriko, additional, Matsumoto, Naomichi, additional, Mohan, Subburaman, additional, Nishimura, Gen, additional, Mortier, Geert, additional, and Ikegawa, Shiro, additional
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- 2016
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22. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)
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Micalizzi, Alessia, primary, Poretti, Andrea, additional, Romani, Marta, additional, Ginevrino, Monia, additional, Mazza, Tommaso, additional, Aiello, Chiara, additional, Zanni, Ginevra, additional, Baumgartner, Bastian, additional, Borgatti, Renato, additional, Brockmann, Knut, additional, Camacho, Ana, additional, Cantalupo, Gaetano, additional, Haeusler, Martin, additional, Hikel, Christiane, additional, Klein, Andrea, additional, Mandrile, Giorgia, additional, Mercuri, Eugenio, additional, Rating, Dietz, additional, Romaniello, Romina, additional, Santorelli, Filippo Maria, additional, Schimmel, Mareike, additional, Spaccini, Luigina, additional, Teber, Serap, additional, von Moers, Arpad, additional, Wente, Sarah, additional, Ziegler, Andreas, additional, Zonta, Andrea, additional, Bertini, Enrico, additional, Boltshauser, Eugen, additional, and Valente, Enza Maria, additional
- Published
- 2016
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23. Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
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Iida, Aritoshi, Weirong Xing, Docx, Martine K. F., Tomoki Nakashima, Zheng Wang, Mamori Kimizuka, Wim Van Hu, Rating, Dietz, Spranger, Jürgen, Hirohumi Ohashi, Noriko Miyake, Naomichi Matsumoto, Mohan, Subburaman, Nishimura, Gen, Mortier, Geert, and Shiro Ikegawa
- Subjects
DYSPLASIA ,OSTEOSCLEROSIS ,OSTEOCLASTS ,GENETIC mutation ,GENETICS ,THERAPEUTICS - Abstract
Background Osteosclerotic metaphyseal dysplasia (OSMD) is a unique form of osteopetrosis characterised by severe osteosclerosis localised to the bone ends. The mode of inheritance is autosomal recessive. Its genetic basis is not known. Objective To identify the disease gene for OSMD. Methods and results By whole exome sequencing in a boy with OSMD, we identified a homozygous 7 bp deletion (c.5938_5944delGAGTGGT) in the LRRK1 gene. His skeletal phenotype recapitulated that seen in the Lrrk1-deficient mouse. The shared skeletal hallmarks included severe sclerosis in the undermodelled metaphyses and epiphyseal margins of the tubular bones, costal ends, vertebral endplates and margins of the flat bones. The deletion is predicted to result in an elongated LRRK1 protein (p.E1980Afs*66) that lacks a part of its WD40 domains. In vitro functional studies using osteoclasts from Lrrk1-deficient mice showed that the deletion was a loss of function mutation. Genetic analysis of LRRK1 in two unrelated patients with OSMD suggested that OSMD is a genetically heterogeneous condition. Conclusions This is the first study to identify the causative gene of OSMD. Our study provides evidence that LRRK1 plays a critical role in the regulation of bone mass in humans. [ABSTRACT FROM AUTHOR]
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- 2016
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24. Prof. Bengt Hagberg (1923–2015).
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Rating, Dietz and Krägeloh-Mann, Ingeborg
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- *
COLLEGE teachers - Abstract
An obituary for Professor Bengt Hagberg is presented.
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- 2015
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25. Paediatric Neurological Disorders with Cerebellar Involvement: Diagnosis and Management - Mariani Foundation Paediaric Neurology Volume 27.
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Rating, Dietz
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- *
NEUROLOGICAL disorders , *NONFICTION - Published
- 2015
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26. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
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Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, and Bernard G
- Subjects
- Adolescent, Adult, Biological Variation, Population, Child, Child, Preschool, Cohort Studies, Cross-Sectional Studies, Endocrine System Diseases epidemiology, Endocrine System Diseases etiology, Female, Genetic Heterogeneity, Growth Disorders epidemiology, Growth Disorders etiology, Hereditary Central Nervous System Demyelinating Diseases complications, Hereditary Central Nervous System Demyelinating Diseases epidemiology, Humans, Hypogonadism epidemiology, Hypogonadism etiology, Infant, Infant, Newborn, Male, Mitochondrial Diseases complications, Mitochondrial Diseases epidemiology, Mutation, RNA Polymerase III genetics, Retrospective Studies, Young Adult, DNA-Directed RNA Polymerases genetics, Endocrine System Diseases genetics, Growth Disorders genetics, Hereditary Central Nervous System Demyelinating Diseases genetics, Mitochondrial Diseases genetics
- Abstract
Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date., Objective: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy., Design: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated., Setting: This was a multicenter retrospective study using information collected from 3 predominant centers., Patients: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included., Main Outcome Measures: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts., Results: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients., Conclusions: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder., (© The Author(s) 2020. Published by Oxford University Press on behalf of the Endocrine Society.)
- Published
- 2021
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