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1. Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis

Author

Ma Dolores Bóveda, Manuel Castro-Gago, Ma Luz Couce, Daisy E. Castiñeiras, Antonia Ribes, J. Garcia-Villoria, José Ma Fraga, Olalla López-Suárez, and José A. Cocho

Subjects
Male, medicine.medical_specialty, Pediatrics, Delayed Diagnosis, Time Factors, Glutaric aciduria type 1, Hypoglycemia, Enteral administration, Asymptomatic, Tandem Mass Spectrometry, Carnitine, Outcome Assessment, Health Care, medicine, Humans, Longitudinal Studies, Amino Acid Metabolism, Inborn Errors, Retrospective Studies, Newborn screening, Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, business.industry, Glutaric aciduria, Infant, Newborn, Macrocephaly, General Medicine, medicine.disease, Surgery, Early Diagnosis, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, Rare disease
Abstract

Patients with Glutaric aciduria type 1 (GA-1) can be identified by newborn screening using tandem mass spectrometry. The clinical evolution of screened patients seems to be more favourable compared with those diagnosed later, although long-term evolution is still doubtful. We have evaluated the outcome in nine GA-1 patients diagnosed in our region during 12 years. Six were detected by newborn screening and 3 clinically. The birth prevalence was 1:35,027. High blood C5DC concentration, in 8/9 patients, was found, whereas all patients exhibited high concentration of this metabolite in urine. Therefore, urine C5DC was a good marker for the detection of this disease. Eight different mutations in the GCDH gene were identified, four of them were novel (p.R88H, p.Y398C, p.R372K, p.D220N); being p.R227P the mostcommon. Macrocephaly with enlarged frontotemporal subarachnoid space was present in 4/6 patients diagnosed by newborn screening, all these patients required high energy intake, and in two cases, enteral feeding during the first year of life was needed. One child had an intercurrent episode of feeding refuse with hypoglycemia at two years of age. The mean follow-up time of screened patients was 56 months, and patients still remain asymptomatic. However, after a mean follow-up of 97 months treatment efficacy was poor in unscreened patients, two of them showing a severe spastic tetraparesis. Plasma levels of lysine, tryptophan and carnitine, were the most useful biomarkers for the follow-up. Our data support that, early diagnosis and treatment strategies are essential measures for the good clinical evolution of GA-1 patients.

Published
2013
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2. Neonatal Outcomes of Very Low Birth Weight and Very Preterm Neonates: An International Comparison

Author

Prakesh S. Shah, Kei Lui, Gunnar Sjörs, Lucia Mirea, Brian Reichman, Mark Adams, Neena Modi, Brian A. Darlow, Satoshi Kusuda, Laura San Feliciano, Junmin Yang, Stellan Håkansson, Rintaro Mori, Dirk Bassler, Josep Figueras-Aloy, Shoo K. Lee, Nadia Badawi, Peter Marshall, Paul Craven, Karen Simmer, Jacqueline Stack, Dan Casalaz, Elizabeth Carse, Lucy Cooke, Vijay Shingde, David Cartwright, Rod Hunt, Charles Kilburn, Peter Dargaville, Mary Paradisis, Ingrid Rieger, Carl Kuschel, Andrew Numa, Hazel Carlisle, Guan Koh, Chad Andersen, Melissa Luig, Nicola Austin, Roland Broadbent, Lindsay Mildenhall, Malcolm Battin, David Bourchier, Vaughan Richardson, Anne Synnes, Nicole Rouvinez-Bouali, Bruno Piedboeuf, Barbara Bulleid, Wendy Yee, Nalini Singhal, Adele Harrison, Cherrie Tan-Dy, Sandesh Shivananda, Kenneth Tan, Andrew James, Molly Seshia, Keith Barrington, Francine Lefebvre, Doug McMillan, Wayne Andrews, Lajos Kovacs, Kimberly Dow, Maxine Clarke, Patricia Riley, Prakesh Shah, Arne Ohlsson, Khalid Aziz, Abraham Peliowski, Zenon Cieslak, Todd Sorokan, Zarin Kalapesi, Abraham Ninan, Koravangattu Sankaran, Daniel Faucher, Gerarda Cronin, Roderick Canning, Orlando da Silva, David Lee, Cecil Ojah, Michael Dunn, Eli Heymann, Shmuel Zangen, Amir Kushnir, Francis Mimouni, David Bader, Avi Rothschild, Zipora Strauss, Clari Felszer, Jamalia Jeryes, Smadar Even Tov-Friedman, Benjamin Bar-Oz, Michael Feldman, Nizar Saad, Orna Flidel-Rimon, Meir Weisbrod, Daniel Lubin, Ita Litmanovitz, Shraga Blazer, Eric Shinwell, Leah Sirota, Yousif Nijim, Agneta Golan, Dror Mandel, Vered Fleisher-Sheffer, David Kohelet, Lev Bakhrakh, Satoshi Hattori, Shohei Konishi, Takasuke Amizuka, Takeo Kasai, Ritsuko Takahasi, Hirokazu Arai, Maki Sato, Yayoi Miyazono, Junichi Shimizu, Hiroshi Suzumura, Yumi Kono, Takahiro Inoue, Hiroshi Miyabayashi, Hisanori Sobajima, Rika Ishiguro, Hiroyuki Sato, Satsuki Totsu, Nozomi Ishii, Shigeharu Hosono, Mika Shiraishi, Humihiro Miura, Atsushi Nakao, Hitoshi Yoda, Mitsumasa Shimizu, Kazuo Seki, Yasuhumi Itani, Keiji Suzuki, Atsushi Nemoto, Tomohiko Nakamura, Masaki Wada, Yoshihisa Nagayama, Osamu Numata, Takeshi Futatani, Yasuhisa Ueno, Kazuyuki Iwai, Yoshinori Kono, Shigeru Ooki, Yusuke Nakazawa, Chizuko Suzuki, Taihei Tanaka, Motoki Bonno, Kenji Nakamura, Minako Kihara, Hiroyuki Sano, Atsushi Shiraishi, Atsushi Ohashi, Hiroyuki Ichiba, Kiyoaki Sumi, Seiji Yoshimoto, Yukihiro Takahashi, Takahiro Okutani, Masumi Miura, Fumihide Kato, Shinichi Watabe, Misao Kageyama, Rie Fukuhara, Michiko Hayashitani, Keiko Hasegawa, Kosuke Koyano, Shoko Kobayashi, Shinosuke Akiyoshi, Yusei Nakata, Takeshi Kanda, Hisano Tadashi, Hiroshi Kanda, Masaki Nakamura, Naoko Matsumoto, Masayuki Ochiai, Mikihiro Aoki, Akihiko Kawase, Koichi Iida, Chie Ishihara, Moriyasu Kohama, Ma José Fernández Seara, José Ma Fraga Bermúdez, Andrés Martínez Gutiérrez, María Mercedes Martínez Ayúcar, Carolina Vizcaíno Díaz, José Luis Quiles Durá, María González Santacruz, Ma Anne Feret Siguile, Adela Rodríguez Fernández, Belén Fernández Colomer, Enrique García López, Josep Figuera Aloy, Francesc Botet Mussons, Israel Anquela Sanz, Gemma Ginovart Galiana, Elisenda Moliner Calderon, Antonio Natal Pujol, Alicia Mirada Vives, Martín Iriondo Sanz, Roser Porta, Eva Capdevila Cogul, Laura Castells Vilella, Bruno Alonso Álvarez, José María Montero Macarro, Ana R. Barrio Sacristán, Ma Jesús López Cuesta, Ortiz Tardío, Eugenia Valls Sánchez Puerta, Isabel Benavente Fernández, Juan Mena Romero, María Dolores Martinez Gimenez, Ramón Aguilera Olmos, Ricardo Tosca Segura, Juana Ma Guzmán Cabañas, Ma Dolores Huertas Muñoz, Alberto Trujillo, Luis Fidel Moltó Ripoll, José Antonio Hurtado Suazo, Ana Elena Aldea Romero, Luis Paisán Grisolía, Ana Isabel Garrido Ocana, Eduardo Garcia Soblechero, Ma Yolanda Ruiz del Prado, Inés Esteba Díez, Gema E. González-Luis, Fermín García-Muñoz Rodrigo, Emilio Álvaro Iglesias, Fernando Fernandez Calvo, Eduard Solé Mir, Jordi Garcia Martí, Roberto Ortiz Movilla, Lucía Cabanillas Vilaplana, Marta García San Miguel, Isabel Llana Martín, María Fernández Díaz, Jesús Pérez Rodríguez, Sofía Salas, Carmen Muñoz Labian, Carmen González Armengod, Laura Domingo Comeche, Tomás Sánchez Tamayo, Manuel García del Río, José Ángel Alonso Gallego, José María Lloreda Garcia, Javier Vilas González, null Ocampo, Nieves Balado Insunza, Pilar García González, Mercedes Granero Asencio, Antonia López Sanz, Carmen Macías Díaz, Araceli Ferrari Cortés, Pedro Amadeo Fuster Jorge, Santiago López Mendoza, Sabina Romero Ramírez, Ma del Mar Albújar Font, Alicia de Ureta Huertas, Antonio Arroyos Plana, Javier Estañ Capell, Vicente Roqués, F. Morcillo, Sara Marín, María Fernanda Omaña, Gabriel Saitua Iturriaga, Jiri Kofron, Katarina Strand Brodd, Andreas Odlind, Lars Alberg, Sofia Arwehed, Eva Engström, Anna Kasemo, Charlotte Ekelund, Lars Åhman, Fredrik Ingemarsson, Laura Österdahl, Pernilla Thurn, Eva Albinsson, Bo Selander, Fredrik Lundberg, Ingela Heimdahl, Ola Hafström, Erik Wejryd, Johanna Kuusima-Löfbom, Ellen-Elisabeth Lund, Annelie Thorén, Boubou Hallberg, Eva Berggren Broström, Torbjörn Hertzberg, Björn Stjernstedt, Johan Robinson, Aijaz Farooqi, Erik Normann, Magnus Fredriksson, Anders Palm, Åsa Hedblom, Kenneth Sjöberg, Leif Thorbjörnsson, Andreas Ohlin, Rein Florell, Agneta Smedsaas-Löfvenberg, Philipp Meyer, Claudia Anderegg, Sven Schulzke, Mathias Nelle, Bendicht Wagner, Walter Bär, Grégoire Kaczala, Riccardo E. Pfister, Jean-François Tolsa, Matthias Roth, Thomas M. Berger, Bernhard Laubscher, Andreas Malzacher, John P. Micallef, Lukas Hegi, Romaine Arlettaz, Vera Bernet, Santanu Bag, Jonathan Kefas, Oliver Rackham, Arumugavelu Thirumurgan, Bill Yoxall, Tim McBride, Delyth Webb, Laweh Amegavie, Ahmed Hassan, Priyadarshan Ambadkar, Mark Dyke, Seif Babiker, Susan Rubin, Amanda Ogilvy-Stuart, Nagesh Panasa, Paul Settle, Jonathan Moise, Ngozi Edi-Osagie, Carrie Heal, Jacqeline Birch, Abdul Hasib, Aung Soe, Niraj Kumar, Hamudi Kisat, Vimal Vasu, Meera Lama, Richa Gupta, Chris Rawlingson, Tim Wickham, Karin Schwarz, Van Sommen, Sara Watkin, Aashish Gupta, Narendra Aladangady, Imdad Ali, Lesley Alsford, Khalid Mannan, Ebel Rainer, Nicholas Wilson, Mark Thomas, Ramnik Mathur, Michele Cruwys, Sunit Godambe, Timothy Watts, Jauro Kuna, John Chang, Jon Filkin, Charlotte Huddy, Ruth Shephard, Krzystof Zieba, Patti Rao, Andrew Currie, Azhar Manzoor, Munir Ahmed, Phil Simmons, Julie Nycyk, Andrew Gallagher, Chrisantha Halahakoon, Sanjeev Deshpande, Anand Mohite, Kate Palmer, Alan Gibson, Mehdi Garbash, Mithilesh Lal, Majd Abu-Harb, Róisín McKeon-Carter, Michael Selter, Paul Munyard, Vaughan Lewis, Mala Raman, Graham Whincup, Abdus Mallik, Philip Amess, Charles Godden, Peter Reynolds, Indranil Misra, Naveen Shettihalli, Peter De Halpert, Sanjay Salgia, Rekha Sanghavi, Ruth Wigfield, Abby Deketelaere, Minesh Khashu, Michael Hall, Charlotte Groves, Nick Brown, Nick Brennan, Katia Vamvakiti, Mal Ratnayaka, Simon Pirie, Stephen Jones, Paul Mannix, David Harding, Megan Eaton, David Gibson, and Lawrence Miall

Subjects
Male, Pediatrics, medicine.medical_specialty, Population, Infant, Premature, Diseases, Logistic regression, Global Health, Odds, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Infant, Very Low Birth Weight, 030212 general & internal medicine, education, Retrospective Studies, education.field_of_study, business.industry, Mortality rate, Infant, Newborn, Retrospective cohort study, Retinopathy of prematurity, medicine.disease, Low birth weight, Bronchopulmonary dysplasia, Infant, Extremely Premature, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Demography
Abstract

OBJECTIVE To compare rates of a composite outcome of mortality or major morbidity in very-preterm/very low birth weight infants between 8 members of the International Network for Evaluating Outcomes. STUDY DESIGN We included 58 004 infants born weighing

Published
2016

3. Inborn errors of metabolism in a neonatology unit: Impact and long-term results

Author

José Ma Fraga, José Ramón Fernández-Lorenzo, Ma Dolores Bóveda, Ana Baña, Alejandro Pérez-Muñuzuri, and Ma Luz Couce

Subjects
Psychomotor learning, Mechanical ventilation, Pediatrics, medicine.medical_specialty, Newborn screening, Neonatal intensive care unit, business.industry, Mortality rate, medicine.medical_treatment, Retrospective cohort study, Disease, Pediatrics, Perinatology and Child Health, Medicine, Neonatology, business
Abstract

Background: Inborn errors of metabolism (IEM) have greater repercussions in neonatology units. The goal of our study was to evaluate the impact of IEM in a neonatology unit and the outcome of these neonates. Methods: All patients with IEM admitted in our unit were evaluated during an 8-year period for specific diagnosis, clinical features, therapy and long-term neurodevelopment. Results: The study group was comprised of 31 infants, 18 of which required admission to the neonatal intensive care unit (NICU) (1.63% of income) due to severe symptoms. Twenty-two of the 31 had an earlier diagnosis and treatment due to expanded newborn screening, made from the third day of life. The most frequent diagnosis in the NICU, representing 66.66% (12/18), was diseases that cause an endogenous intoxication. Despite the diagnosis by tandem mass spectrometry, many of these patients had severe clinical symptoms prior to the screening results. Aggressive support was often necessary (extracorporeal removal therapy, mechanical ventilation). Death occurred generally in the first year of life (5/6). The death rate in the NICU was 10.3%. The survivors presented higher scores on the Psychomotor Development Index if the diagnosis of the disease was either made or helped by screening. This also depends on the type of disease. Conclusion: Earlier diagnosis by expanded newborn screening and earlier treatment is essential in order to be able to prevent neurological sequelae.

Published
2011
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4. Inborn errors of metabolism in a neonatology unit: impact and long-term results

Author

Ma Luz, Couce, Ana, Baña, Ma Dolores, Bóveda, Alejandro, Pérez-Muñuzuri, José Ramón, Fernández-Lorenzo, and José Ma, Fraga

Subjects
Neonatal Screening, Incidence, Intensive Care Units, Neonatal, Infant, Newborn, Humans, Prognosis, Metabolism, Inborn Errors, Retrospective Studies
Abstract

Inborn errors of metabolism (IEM) have greater repercussions in neonatology units. The goal of our study was to evaluate the impact of IEM in a neonatology unit and the outcome of these neonates.All patients with IEM admitted in our unit were evaluated during an 8-year period for specific diagnosis, clinical features, therapy and long-term neurodevelopment.The study group was comprised of 31 infants, 18 of which required admission to the neonatal intensive care unit (NICU) (1.63% of income) due to severe symptoms. Twenty-two of the 31 had an earlier diagnosis and treatment due to expanded newborn screening, made from the third day of life. The most frequent diagnosis in the NICU, representing 66.66% (12/18), was diseases that cause an endogenous intoxication. Despite the diagnosis by tandem mass spectrometry, many of these patients had severe clinical symptoms prior to the screening results. Aggressive support was often necessary (extracorporeal removal therapy, mechanical ventilation). Death occurred generally in the first year of life (5/6). The death rate in the NICU was 10.3%. The survivors presented higher scores on the Psychomotor Development Index if the diagnosis of the disease was either made or helped by screening. This also depends on the type of disease.Earlier diagnosis by expanded newborn screening and earlier treatment is essential in order to be able to prevent neurological sequelae.

Published
2010

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