The International Network for Evaluating Outcomes (iNeo) of neonates: evolution, progress and opportunities

Autor: Shah, PS, Lui, K, Reichman, B, Norman, M, Kusuda, S, Lehtonen, L, Adams, M, Vento, M, Darlow, BA, Modi, N, Rusconi, F, Hakansson, S, San Feliciano, L, Helenius, KK, Bassler, D, Hirano, S, Lee, SK, Marshall, P, Schmidt, P, Dhawan, A, Craven, P, De Waal, K, Simmer, K, Gill, A, Pillow, J, Stack, J, Birch, P, Cooke, L, Casalaz, D, Holberton, J, Stewart, A, Downe, L, Stewart, M, Bajuk, B, Berry, A, Hunt, R, Kilburn, C, De Paoli, T, Bolisetty, S, Paradisis, M, Rieger, I, Koorts, P, Kuschel, C, Numa, A, Carlisle, H, Badawi, N, Loughran-Fowlds, A, Koh, G, Davis, J, Luig, M, Andersen, C, Chambers, G, Austin, N, Lynn, A, Darlow, B, Edmonds, L, Mildenhall, L, Buksh, M, Battin, M, Van den Boom, J, Bourchier, D, Richardson, V, Dineen, F, Rajadurai, VS, Fung, G, Harrison, A, Synnes, A, Ting, J, Cieslak, Z, Sherlock, R, Yee, W, Aziz, K, Toye, J, Fajardo, C, Kalapesi, Z, Sankaran, K, Daspal, S, Seshia, M, Alvaro, R, Mukerji, A, Da Silva, O, Nwaesei, C, Lee, K-S, Dunn, M, Lemyre, B, Dow, K, Pelausa, E, Barrington, K, Drolet, C, Piedboeuf, B, Claveau, M, Beltempo, M, Bertelle, V, Masse, E, Canning, R, Mabry, H, Ojah, C, Monterrosa, L, Deshpandey, A, Afifi, J, Kajetanowicz, A, Andersson, S, Tammela, O, Sankilampi, U, Saarela, T, Prazad, P, Noguchi, A, McWan, K, Button, B, Stratton, W, Hamvus, A, Raghaven, A, Derrick, M, Hadley, R, Covert, R, Lablanc, O, Weiss, M, Bell, A, Shareef, M, Silvestri, J, Heymann, E, Zangen, S, Smolkin, T, Mimouni, F, Bader, D, Rothschild, A, Strauss, Z, Felszer, C, Oman, H, Toy-Friedman, SE, Bar-Oz, B, Feldman, M, Saad, N, Flidel-Rimon, O, Weisbrod, M, Lubin, D, Litmanovitz, I, Kngelman, A, Shinwell, E, Klinger, G, Nijim, Y, Bin-Nun, A, Golan, A, Mandel, D, Fleisher-Sheffer, V, Kohelet, D, Bakhrakh, L, Hattori, S, Shirai, M, Ishioka, T, Mori, T, Amiznka, T, Huchimukai, T, Yoshida, H, Sasaki, A, Shimizu, J, Nakamura, T, Maruyama, M, Matsumoto, H, Hosokawa, S, Taki, A, Nakagawa, M, Ko, K, Uozumi, A, Nakata, S, Shimazaki, A, Yoda, T, Numata, O, Imamura, H, Kobayashi, A, Tokuriki, S, Uchida, Y, Arai, T, Ito, M, Ieda, K, Ono, T, Hayashi, M, Maki, K, Yamakawa, M, Kawai, M, Fujii, N, Shiomi, K, Nozaki, K, Wada, H, Kim, T, Tokunaga, Y, Takatera, A, Oshima, T, Sumida, H, Michinomae, Y, Knsumoto, Y, Yoshimoto, S, Morisawa, T, Ohashi, T, Takahashi, Y, Sugimoto, M, Ono, N, Miyagawa, S, Saijo, T, Yamagami, T, Koyano, K, Kobayashi, S, Kanda, T, Sakemi, Y, Aoki, M, Iida, K, Goshi, M, Maruyama, Y, Avila-Alvarez, A, Luis Fernandez-Trisac, J, Couce Pico, ML, Fernandez Seara, MJ, Martinez Gutierrez, A, Vizcaino, C, Salvador Iglesias, M, Sanchez Zaplana, H, Fernandez Colomer, B, Garcia Lopez, JE, Garcia Mozo, R, Gonzalez Martinez, MT, Muro Sebastian, MD, Balart Carbonell, M, Badia Bamnsell, J, Domingo Puiggros, M, Figueras Aloy, J, Botet Mussons, F, Anquela Sanz, I, Ginovart Galiana, G, Coroleu, W, Iriondo, M, Vilella, LC, Porta, R, Demestre, X, Martinez Nadal, S, De Frutos Martinez, C, Lopez Cuesta, MJ, Esquivel Mora, D, Ortiz Tardio, J, Benavente, I, Alonso, A, Aguilera Olmos, R, Garcia Cabezas, MA, Martinez Jimenez, MD, Jaraba Caballero, MF, Ordofiez Diaz, MD, Fagundo, AT, Canals, LM, Garcia-Munoz Rodrigo, F, Urquia Marti, L, Moreno Galdo, MF, Hurtado Suazo, JA, Narbona Lopez, E, Uberos Fernandez, J, Cortajarena Altana, MA, Mora Navarro, D, Teresa Dominguez, M, Ruiz del Prado, MY, Esteban Diez, I, Palau Benavides, MT, Lapena, S, Prada, T, Soler Mir, E, Corredera Sanchez, A, Criado Vega, E, Del Prado, N, Fernandez, C, Cabanillas Vilaplana, L, Cuadrado Perez, I, Lopez Gomez, L, Domingo Comeche, L, Llana Martin, I, Gonzalez Armengod, C, Munoz Labian, C, Santos Munoz, MJ, Blanco Bravo, D, Perez, V, Elorza Fernandez, MD, Diaz Gonzalez, C, Ares Segura, S, Lopez Azorin, M, Belen Jimenez, A, Sanchez-Tamayo, T, Tapia Moreno, E, Gonzalez, M, Sanchez Martinez, JE, Lloreda Garcia, JM, Goni Orayen, C, Vilas Gonzalez, J, Suarez Albo, M, Gonzalez Colmenero, E, Gutierrez Gonzalez, EP, Vacas del Arco, B, Marquez Fernandez, J, Acosta Gordillo, L, Granero Asensio, M, Macias Diaz, C, Albujar, M, Fuster Jorge, P, Romero, S, Rivero Falero, M, Escobar Izquierdo, AB, Estan Capell, J, Izquierdo Macian, MI, Montejo Vicente, MM, Izquierdo Caballero, R, Mercedes Martinez, M, Euba, A, Rodriguez Serna, A, De Heredia Goya, JML, Perez Legorburu, A, Gutierrez Amoros, A, Marugan Isabel, VM, Hernandez Gonzalez, N, Rite Gracia, S, Ventura Faci, MP, Samper Villagrasa, MP, Kofron, J, Brodd, KS, Odlind, A, Alberg, L, Arwehed, S, Hafstrom, O, Kasemo, A, Nederman, K, Ahman, L, Ingemarsson, F, Petersson, H, Thum, P, Albinsson, E, Selander, B, Abrahamsson, T, Heimdahl, I, Sveinsdottir, K, Wejryd, E, Hedlund, A, Soderberg, MK, Hallberg, B, Brune, T, Backstrom, J, Robinson, J, Farooqi, A, Normann, E, Fredriksson, M, Palm, A, Rosenqvist, U, Hagman, C, Ohlin, A, Floral, R, Smedsaas-Lofvenberg, A, Meyer, P, Anderegg, C, Schulzke, S, Nelle, M, Wagner, B, Riedel, T, Kaczala, G, Walde, B, Pfister, RE, Tolsa, J-F, Roth, M, Stocker, M, Laubscher, B, Malzacher, A, Micallef, JP, Hegi, L, Arlettaz, R, Bernet, V, Dani, C, Fiorini, P, Boldrini, A, Tomasini, B, Mittal, A, Kefas, J, Kamalanathan, A, Jayachandran, Yoxall, B, McBride, T, Webb, D, Garr, R, Hassan, A, Ambadkar, P, Dyke, M, McDevitt, K, Rewitzky, G, D'Amore, A, Panasa, N, Settle, P, Maddock, N, Edi-Osagie, N, Zipitis, C, Heal, C, Birch, J, Hasib, A, Soe, A, Kumar, N, Kisat, H, Vasu, V, Lama, M, Gupta, R, Rawlingson, C, Wickham, T, Theron, M, Kendall, G, Gupta, A, Aladangady, N, Ali, I, Alsford, L, Lopez, W, Murthy, V, Sullivan, C, Thomas, M, Bate, T, Godambe, S, Watts, T, Kuna, J, Chang, J, Pai, V, Huddy, C, Yasin, S, Nicholl, R, Pandey, P, Kairamkonda, V, Muogbo, D, Harry, L, Simmons, P, Nycyk, J, Gallagher, A, Pillay, T, Deshpande, S, Mahadevan, Moore, A, Clark, S, Garbash, M, Lal, M, Abu-Harb, M, Allwood, A, Selter, M, Munyard, P, Bartle, D, Paul, S, Whincup, G, Mallik, A, Amess, P, Godden, C, Reynolds, P, Misra, I, De Halpert, P, Salgia, S, Sanghavi, R, Wigfield, R, Deketelaere, A, Khashu, M, Hall, M, Groves, C, Brown, N, Brennan, N, Vamvakiti, K, McIntyre, J, Pirie, S, Jones, S, Mannix, P, Cairns, P, Eaton, M, Schwarz, K, Gibson, D, Miall, L, Krishnamurthy

Neonates born very preterm (before 32 weeks’ gestational age), are a significant public health concern because of their high-risk of mortality and life-long disability. In addition, caring for very preterm neonates can be expensive, both during the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a776d1db993304c64844b83d36a3a2e8
https://www.zora.uzh.ch/id/eprint/177111/

Encefalopatía mitocondrial precoz por deficiencia aislada del complejo IV compatible con el síndrome de Alpers-Huttenlocher. A propósito de dos observaciones

Autor: Jesús Eirís-Puñal, Fernández-Seara Mj, Fernández-Cebrián S, Alonso-Martín A, González-Conde, Joaquín Arenas, Yolanda Campos, Manuel Castro-Gago, E Rodrigo-Saez

Publikováno v: Revista de Neurología. 29:912

INTRODUCTION: Complex IV or cytochrome c oxidase (COX) deficiency is the most common disorder involving complexes of the respiratory chain in the pediatric age. Exceptionally, it has been reported in association with Alpers syndrome or Alpers disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::13b714d775cd9f80b87677a3e68ad461
https://doi.org/10.33588/rn.2910.99062

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Corrigendum: Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseous Heteroplasia.

Autor: Justicia-Grande AJ; Genetics, Vaccines, Infectious Diseases and Pediatrics Research Group (GENVIP Group), Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain.; Physical Medicine and Rehabilitation Department, Hospital Clínico Universitario de Santiago de Compostela, A Coruña, Spain., Gómez-Ríal J; Genetics, Vaccines, Infectious Diseases and Pediatrics Research Group (GENVIP Group), Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain.; Immunology Laboratory, Clinical Laboratory, Hospital Clínico Universitario Santiago de Compostela, A Coruña, Spain., Rivero-Calle I; Genetics, Vaccines, Infectious Diseases and Pediatrics Research Group (GENVIP Group), Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain.; Translational Pediatrics and Infectious Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, A Coruña, Spain., Pischedda S; Genetics, Vaccines, Infectious Diseases and Pediatrics Research Group (GENVIP Group), Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain., Curras-Tuala MJ; Genetics, Vaccines, Infectious Diseases and Pediatrics Research Group (GENVIP Group), Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain., Gómez-Carballa A; Genetics, Vaccines, Infectious Diseases and Pediatrics Research Group (GENVIP Group), Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain., Cebey-López M; Genetics, Vaccines, Infectious Diseases and Pediatrics Research Group (GENVIP Group), Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain., Pardo-Seco J; Genetics, Vaccines, Infectious Diseases and Pediatrics Research Group (GENVIP Group), Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain., Méndez-Gallart R; Pediatric Surgery, Hospital Clínico Universitario de Santiago de Compostela, A Coruña, Spain., Fernández-Seara MJ; Immunology Laboratory, Clinical Laboratory, Hospital Clínico Universitario Santiago de Compostela, A Coruña, Spain., Salas A; Genetics, Vaccines, Infectious Diseases and Pediatrics Research Group (GENVIP Group), Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain.; Unidade de Xenética, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; GenPoB Research Group, Instituto de Investigaciones Sanitarias, Hospital Clínico Universitario de Santiago de Compostela, A Coruña, Spain., Martinón-Torres F; Genetics, Vaccines, Infectious Diseases and Pediatrics Research Group (GENVIP Group), Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain.; Translational Pediatrics and Infectious Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, A Coruña, Spain.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2021 Dec 14; Vol. 9, pp. 807812. Date of Electronic Publication: 2021 Dec 14 (Print Publication: 2021).

A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.

Autor: Balboa-Beltran E; Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain., Fernández-Seara MJ; Servicio de Neonatología, Departamento de Pediatría, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Pérez-Muñuzuri A; Servicio de Neonatología, Departamento de Pediatría, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Lago R; Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain., García-Magán C; Servicio de Neonatología, Departamento de Pediatría, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Couce ML; Servicio de Neonatología, Departamento de Pediatría, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Sobrino B; Grupo de Medicina Xenómica-USC, CIBERER, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain., Amigo J; Grupo de Medicina Xenómica-USC, CIBERER, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain., Carracedo A; Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain Grupo de Medicina Xenómica-USC, CIBERER, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain King Abdulaziz University, Center of Excellence in Genomic Medicine Research, Jeddah, Saudi Arabia., Barros F; Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain Grupo de Medicina Xenómica-USC, CIBERER, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.

Publikováno v: Journal of medical genetics [J Med Genet] 2014 Jul; Vol. 51 (7), pp. 475-8. Date of Electronic Publication: 2014 Apr 17.