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1. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

Author

Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, and Rodríguez-Revenga Laia

Subjects
autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID), Genetics, QH426-470
Abstract

Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that plays a central role in the formation of the postsynaptic terminals and the maintenance of synaptic structures. Clinically, patients with PMS often present with global developmental delay, absent or severely delayed speech, neonatal hypotonia, minor dysmorphic features, and autism spectrum disorders (ASD), among other findings. Here, we describe a cohort of 210 patients with genetically confirmed PMS. We observed multiple variant types, including a significant number of small deletions (

Published
2022
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3. Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study

Author

Vázquez-Costa, Juan F., Branas-Pampillón, María, Medina-Cantillo, Julita, Povedano, Mónica, Pitarch-Castellano, Inmaculada, López-Lobato, Mercedes, Fernández-Ramos, Joaquín A., Lafuente-Hidalgo, Miguel, Rojas-García, Ricard, Caballero-Caballero, José M., Málaga, Ignacio, Eirís-Puñal, Jesús, De Lemus, Mencía, Cattinari, María G., Cabello-Moruno, Rosana, Díaz-Abós, Paola, Sánchez-Menéndez, Victoria, Rebollo, Pablo, Maurino, Jorge, and Madruga-Garrido, Marcos

Published
2023
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6. Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

Author

Alcantud, Alberto, Aguilera-Albesa, Sergio, Alvarez Demanuel, Diana, Alvarez Molinero, Mireia, Aquino Fariña, Lourdes, Arrabal, Luisa, Arriola-Pereda, Gema, Aznar-Laín, Gemma, Benavides-Medina, Maite, Bermejo, Teresa, Blanco-Lago, Raquel, Caballero, Eva, Calvo, Rocío, Camacho Salas, Ana, Conejo-Moreno, David, Delgadillo-Chilavert, Verónica, Elosegi-Castellanos, Amagoia, Esteban Canto, Vanesa, Fernández-Ramos, Joaquín, Garcia-Puig, Montserrat, García-Ribes, Ainhoa, Gómez-Martín, Hilario, Gonzalez-Barrios, Desire, González-Gutiérrez-Solana, Luis, Jimena-Garcia, Sara, Jiménez-Legido, María, Juliá-Palacios, Natalia, López-Laso, Eduardo, Martí-Carrera, Itxaso, Martínez González, Marta, Martín-Viota, Lucía, Mattozi, Simone, Maqueda-Castellote, Elena, Mendibe, Maria D M, Mora-Ramírez, Maria D, Muñoz-Cabello, Beatriz, Navarro-Morón, Juan, Nunes-Cabrera, Tania, Orellana, Gabriela, Pujol-Soler, Berta, Querol, Luis, Ramírez, Alfredo, Rodriguez-Lucenilla, Maria I, Ruiz, Cesar, Soto-Insuga, Víctor, Toledo Bravo de Laguna, Laura, Turon-Viñas, Eulàlia, Vázquez-López, Maria, Villar-Vera, Cristina, Armangue, Thaís, Olivé-Cirera, Gemma, Martínez-Hernandez, Eugenia, Sepulveda, Maria, Ruiz-Garcia, Raquel, Muñoz-Batista, Marta, Ariño, Helena, González-Álvarez, Veronica, Felipe-Rucián, Ana, Jesús Martínez-González, Maria, Cantarín-Extremera, Veronica, Concepción Miranda-Herrero, Maria, Monge-Galindo, Lorena, Tomás-Vila, Miguel, Miravet, Elena, Málaga, Ignacio, Arrambide, Georgina, Auger, Cristina, Tintoré, Mar, Montalban, Xavier, Vanderver, Adeline, Graus, Francesc, Saiz, Albert, and Dalmau, Josep

Published
2020
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10. Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study

Author

Vázquez-Costa, Juan F., primary, Branas-Pampillón, María, additional, Medina-Cantillo, Julita, additional, Povedano, Mónica, additional, Pitarch-Castellano, Inmaculada, additional, López-Lobato, Mercedes, additional, Fernández-Ramos, Joaquín A., additional, Lafuente-Hidalgo, Miguel, additional, Rojas-García, Ricard, additional, Caballero-Caballero, José M., additional, Málaga, Ignacio, additional, Eirís-Puñal, Jesús, additional, De Lemus, Mencía, additional, Cattinari, María G., additional, Cabello-Moruno, Rosana, additional, Díaz-Abós, Paola, additional, Sánchez-Menéndez, Victoria, additional, Rebollo, Pablo, additional, Maurino, Jorge, additional, and Madruga-Garrido, Marcos, additional

Published
2022
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11. Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D).

Author

Avila, Adrian, Málaga, Ignacio, Sirsi, Deepa, Kayani, Saima, Primeaux, Sharon, Kathote, Gauri A., Jakkamsetti, Vikram, Kallem, Raja Reddy, Putnam, William C., Park, Jason Y., Shinnar, Shlomo, and Pascual, Juan M.

Subjects
*KETOGENIC diet, *GLUCOSE transporters, *DIETARY supplements, *KETONE derivatives, *CARBON metabolism, *HYPERGLYCEMIA
Abstract

Fuel influx and metabolism replenish carbon lost during normal neural activity. Ketogenic diets studied in epilepsy, dementia and other disorders do not sustain such replenishment because their ketone body derivatives contain four carbon atoms and are thus devoid of this anaplerotic or net carbon donor capacity. Yet, in these diseases carbon depletion is often inferred from cerebral fluorodeoxyglucose-positron emission tomography. Further, ketogenic diets may prove incompletely therapeutic. These deficiencies provide the motivation for complementation with anaplerotic fuel. However, there are few anaplerotic precursors consumable in clinically sufficient quantities besides those that supply glucose. Five-carbon ketones, stemming from metabolism of the food supplement triheptanoin, are anaplerotic. Triheptanoin can favorably affect Glucose transporter type 1 deficiency (G1D), a carbon-deficiency encephalopathy. However, the triheptanoin constituent heptanoate can compete with ketogenic diet-derived octanoate for metabolism in animals. It can also fuel neoglucogenesis, thus preempting ketosis. These uncertainties can be further accentuated by individual variability in ketogenesis. Therefore, human investigation is essential. Consequently, we examined the compatibility of triheptanoin at maximum tolerable dose with the ketogenic diet in 10 G1D individuals using clinical and electroencephalographic analyses, glycemia, and four- and five-carbon ketosis. 4 of 8 of subjects with pre-triheptanoin beta-hydroxybutyrate levels greater than 2 mM demonstrated a significant reduction in ketosis after triheptanoin. Changes in this and the other measures allowed us to deem the two treatments compatible in the same number of individuals, or 50% of persons in significant beta-hydroxybutyrate ketosis. These results inform the development of individualized anaplerotic modifications to the ketogenic diet. ClinicalTrials.gov registration NCT03301532, first registration: 04/10/2017. [ABSTRACT FROM AUTHOR]

Published
2023
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12. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

Author

Martínez-Cayuelas, Elena, primary, Blanco-Kelly, Fiona, additional, López-Grondona, Fermina, additional, Tahsin-Swafiri, Saoud, additional, López-Rodríguez, Rosario, additional, Pozo, Rebeca Losada-Del, additional, Mahillo, Ignacio, additional, Moreno, Beatriz, additional, Rodrigo-Moreno, María, additional, Casas-Alba, Dídac, additional, López-González, Aitor, additional, García-Miñaur, Sixto, additional, de los Ángeles Mori, María, additional, Pacio-Mínguez, Marta, additional, Rikeros-Orozco, Emi, additional, Santos-Simarro, Fernando, additional, Cruz-Rojo, Jaime, additional, Quesada-Espinosa, Juan Francisco, additional, Teresa Sánchez-Calvin, María, additional, Pozo, Jaime Sánchez-del, additional, Bernadó-Fonz, Raquel, additional, Isidoro-García, María, additional, Ruiz-Ayucar, Irene, additional, Álvarez, María Isabel, additional, Blanco-Lago, Raquel, additional, De Azua-Brea, Begoña, additional, Eirís, Jesús, additional, García-Peñas, Juan José, additional, Gil- Fournier, Belén, additional, Gómez-Lado, Carmen, additional, Irazabal, Nadia, additional, López, Vanessa, additional, Madrigal, Irene, additional, Málaga, Ignacio, additional, Martínez-Menéndez, Beatriz, additional, Ramiro-Leon, María Soraya, additional, García-Hoyos, María, additional, Prieto-Matos, Pablo, additional, López-Pisón, Javier, additional, Aguilera-Albesa, Sergio, additional, de Andrés, Sara Álvarez, additional, Fernández-Jaén, Alberto, additional, Llano-Rivas, Isabel, additional, Gener, Blanca, additional, Ayuso, Carmen, additional, Arteche-López, Ana, additional, Palomares-Bralo, María, additional, Cueto, Anna, additional, Valenzuela, Irene, additional, Martínez-Monseny, Antonio F., additional, Lorda-Sánchez, Isabel, additional, and Almoguera, Berta, additional

Published
2022
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16. Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

Author

Santos-Gómez, Ana, primary, Miguez-Cabello, Federico, additional, Juliá-Palacios, Natalia, additional, García-Navas, Deyanira, additional, Soto-Insuga, Víctor, additional, García-Peñas, Juan J., additional, Fuentes, Patricia, additional, Ibáñez-Micó, Salvador, additional, Cuesta, Laura, additional, Cancho, Ramón, additional, Andreo-Lillo, Patricia, additional, Gutiérrez-Aguilar, Gema, additional, Alonso-Luengo, Olga, additional, Málaga, Ignacio, additional, Hedrera-Fernández, Antonio, additional, García-Cazorla, Àngels, additional, Soto, David, additional, Olivella, Mireia, additional, and Altafaj, Xavier, additional

Published
2021
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17. Pull vs. Wet:rendimiento diagnóstico y calidad de las muestras de las paaf guiadas por use en las masas sólidas del páncreas

Author

Curvale, Cecilia, Málaga, Ignacio, Saunero, Paloma Rojas, Tassi, Viviana, Martins, Enrique, Hui, Jer Hwang, Curvale, Cecilia, Málaga, Ignacio, Saunero, Paloma Rojas, Tassi, Viviana, Martins, Enrique, and Hui, Jer Hwang

Abstract

Differential diagnosis of pancreatic masses is challenging. The endoscopic ultrasound-guided fine-needle aspiration method with the highest diagnostic yield has not been esta-blished. It was realized a prospective, randomized, double-blind study of the endoscopic ultrasound-guided fine-needle aspiration in solid lesions of the pancreas to compare and evaluate diagnostic yield and aspirate quality between wet and pull technique. Forty-one patients were enrolled. The wet technique presented a sensitivity, a specificity, a positive and negative predictive value, and a diagnostic accuracy of 58.3%, 100%, 100%, 25% and 63.4%, respectively. In the capillary technique they were: 75%, 100%, 100%, 35.7% and 78.1%, respectively. Comparing the diagnostic yield between both techniques, there was no statistically significant difference (McNemar's test p = 0.388). Regarding the cellularity of the specimen, both in cytology and the cell block samples, no significant difference was observed between the techniques (p = 0.84 and 0.61, respectively). With res-pect to contaminating blood in the specimen, there was no difference in cytology samples (p = 0.89) and no difference in cell block samples (p = 0.08). The suitability of cytology samples for diagnosis was similar in both techniques (wet = 57.5% and capillary = 56.7%, p = 0.94) and there was no difference in cell block samples (wet = 75% and capillary = 66.1%, p = 0.38). In this study we did not observe differences in diagnostic yield or sample quality. Since both techniques are effective, we suggest the simultaneous and alternate use of both methods.

Published
2021

24. Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

Author

Armangue, Thaís, primary, Olivé-Cirera, Gemma, additional, Martínez-Hernandez, Eugenia, additional, Sepulveda, Maria, additional, Ruiz-Garcia, Raquel, additional, Muñoz-Batista, Marta, additional, Ariño, Helena, additional, González-Álvarez, Veronica, additional, Felipe-Rucián, Ana, additional, Jesús Martínez-González, Maria, additional, Cantarín-Extremera, Veronica, additional, Concepción Miranda-Herrero, Maria, additional, Monge-Galindo, Lorena, additional, Tomás-Vila, Miguel, additional, Miravet, Elena, additional, Málaga, Ignacio, additional, Arrambide, Georgina, additional, Auger, Cristina, additional, Tintoré, Mar, additional, Montalban, Xavier, additional, Vanderver, Adeline, additional, Graus, Francesc, additional, Saiz, Albert, additional, Dalmau, Josep, additional, Alcantud, Alberto, additional, Aguilera-Albesa, Sergio, additional, Alvarez Demanuel, Diana, additional, Alvarez Molinero, Mireia, additional, Aquino Fariña, Lourdes, additional, Arrabal, Luisa, additional, Arriola-Pereda, Gema, additional, Aznar-Laín, Gemma, additional, Benavides-Medina, Maite, additional, Bermejo, Teresa, additional, Blanco-Lago, Raquel, additional, Caballero, Eva, additional, Calvo, Rocío, additional, Camacho Salas, Ana, additional, Conejo-Moreno, David, additional, Delgadillo-Chilavert, Verónica, additional, Elosegi-Castellanos, Amagoia, additional, Esteban Canto, Vanesa, additional, Fernández-Ramos, Joaquín, additional, Garcia-Puig, Montserrat, additional, García-Ribes, Ainhoa, additional, Gómez-Martín, Hilario, additional, Gonzalez-Barrios, Desire, additional, González-Gutiérrez-Solana, Luis, additional, Jimena-Garcia, Sara, additional, Jiménez-Legido, María, additional, Juliá-Palacios, Natalia, additional, López-Laso, Eduardo, additional, Martí-Carrera, Itxaso, additional, Martínez González, Marta, additional, Martín-Viota, Lucía, additional, Mattozi, Simone, additional, Maqueda-Castellote, Elena, additional, Mendibe, Maria D M, additional, Mora-Ramírez, Maria D, additional, Muñoz-Cabello, Beatriz, additional, Navarro-Morón, Juan, additional, Nunes-Cabrera, Tania, additional, Orellana, Gabriela, additional, Pujol-Soler, Berta, additional, Querol, Luis, additional, Ramírez, Alfredo, additional, Rodriguez-Lucenilla, Maria I, additional, Ruiz, Cesar, additional, Soto-Insuga, Víctor, additional, Toledo Bravo de Laguna, Laura, additional, Turon-Viñas, Eulàlia, additional, Vázquez-López, Maria, additional, and Villar-Vera, Cristina, additional

Published
2020
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25. Prevalencia de los trastornos del espectro autista en niños en Estados Unidos, Europa y España: coincidencias y discrepancias

Author

Málaga, Ignacio, Blanco Lago, Raquel, Hedrera-Fernández, Antonio, Álvarez-Álvarez, Nelly, Oreña-Ansonera, Virginia Ainhoa, and Baeza-Velasco, Mónica

Subjects
Autismo, Autism, Pediatría, Prevalence, Infancia, Prevalencia, Pediatrics, Childhood, Asperger
Abstract

Los trastornos del espectro autista (TEA) engloban a un grupo heterogéneo de trastornos del neurodesarrollo que tienen en común la presencia de problemas para la interacción/comunicación social y la tendencia a mostrar intereses restringidos o conductas repetitivas. Diversos estudios epidemiológicos realizados en diferentes países en los últimos años han mostrado de forma consistente dos características: el incremento progresivo en la prevalencia de los TEA a nivel mundial y la existencia de una gran variabilidad geográfica entre territorios y dentro de un mismo territorio. En el presente artículo analizamos los datos de prevalencia más recientemente publicados en EE.UU. y en diversos países de Europa (incluyendo España), que muestran tasas de prevalencia muy variables, con un rango que abarca desde 1/59 niños con trastornos del espectro autista en EE. UU., hasta 1/806 en Portugal. En un segundo tiempo describimos brevemente algunas de las principales hipótesis que intentan explicar esta variabilidad. Autism spectrum disorders are a heterogeneous group of disorders that share the presence of two core symptoms: problems in social interaction / communication and the tendency to present restricted interests and repetitive behavior. Over the last years, several epidemiologic studies have been published by different authors in diverse countries, having all of them shown two common characteristics: a global increase in the prevalence rates of autism spectrum disorders, and the existence of a great geographical variability no only between geographical areas, but also within the same geographical areas. At the present manuscript, we analyze some of the most recent prevalence data published in USA and some European countries (including Spain). All of them show different prevalence rates, ranging from 1/59 children with autism spectrum disorders in the USA to 1/806 in Portugal. In a second part, we briefly describe some of the current scientific hypotheses that try to explain this variability.

Published
2019

29. International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

Author

Nevado, Julián, Ho, Karen S., Zollino, Marcella, Blanco, Raquel, Cobaleda, César, Golzio, Christelle, Beaudry‐Bellefeuille, Isabelle, Berrocoso, Sarah, Limeres, Jacobo, Barrúz, Pilar, Serrano‐Martín, Candela, Cafiero, Concetta, Málaga, Ignacio, Marangi, Giuseppe, Campos‐Sánchez, Elena, Moriyón‐Iglesias, Tania, Márquez, Sorangui, Markham, Leah, Twede, Hope, and Lortz, Amanda

Abstract

"An International Meeting on Wolf‐Hirschhorn Syndrome (WHS)" was held at The University Hospital La Paz in Madrid, Spain (October 13–14, 2017). One hundred and twenty‐five people, including physicians, scientists and affected families, attended the meeting. Parent and patient advocates from the Spanish Association of WHS opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances. In keeping with the theme on therapeutic development, the sessions followed a progression from description of the phenotype and definition of therapeutic endpoints, to definition of genomic changes. These proceedings will review the major points of discussion. [ABSTRACT FROM AUTHOR]

Published
2020
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31. Amilasa y lipasa como predictores tempranos de pancreatitis aguda post-colangiografía pancreática retrógrada endoscópica

Author

Málaga, Ignacio and Chopita, Néstor Alfredo

Subjects
Ciencias Médicas, Colangiopancreatografía Retrograda Endoscópica, Pancreatitis aguda
Abstract

La Colangiopancreatografía Retrograda Endoscópica (CPRE) es un método invasivo para el tratamiento de las afecciones de la vía biliar. Puede ser muy beneficiosa pero con serias complicaciones, siendo la pancreatitis aguda post-CPRE (PAP) la más frecuente. Predecirla tiene implicancias clínicas y legales. Los aumentos asintomáticos de enzimas pancreáticas luego de una CPRE son comunes hasta el 70% de los casos. En cambio, la PAP se estima en alrededor del 2 al 8% en distintas publicaciones. Una revisión sistemática de 21 estudios prospectivos que incluyen 16.855 pacientes, informa una incidencia de PAP del 3,5% de las cuales un 11% son PAP severas con una mortalidad del 3%. Debido a que en muchas instituciones la CPRE se lleva a cabo en pacientes ambulatorios, el reconocimiento temprano de pacientes con predictores altos para PAP sería el ideal para un enfoque terapéutico temprano y por otro lado para evitar una hospitalización innecesaria. En un estudio realizado en el hospital El Cruce sobre un total de 734 CPRE efectuadas en un período de dos años, se registraron quince PAP (2% de las CPRE realizadas). Una internación por “prevención” sin un correcto diagnóstico, incrementa los costos en salud y la innecesaria utilización de recursos. Por otra parte, el subdiagnóstico y eventual alta ante un caso aún no expreso de PAP impide el tratamiento oportuno con aumento de la morbimortalidad. El objetivo de este trabajo fue determinar si elevaciones por encima de tres veces del valor de referencia de amilasa y lipasa a las dos y cuatro horas posteriores a la CPRE pueden predecir pancreatitis., Facultad de Ciencias Médicas

Published
2016

35. Autoimmune post-herpes simplex encephalitis of adults and teenagers

Author

Armangue, Thaís, Moris, Germán, Cantarín-Extremera, Verónica, Conde, Carlos Enrique, Rostasy, Kevin, Erro, Maria Elena, Portilla-Cuenca, Juan Carlos, Turón-Viñas, Eulàlia, Málaga, Ignacio, Muñoz-Cabello, Beatriz, Torres-Torres, Carmen, Llufriu, Sara, González-Gutiérrez-Solana, Luis, González, Guillermo, Casado-Naranjo, Ignacio, Rosenfeld, Myrna, Graus, Francesc, and Dalmau, Josep

Subjects
Adult, Male, Young Adult, Adolescent, Humans, Female, Herpes Simplex, Single-Blind Method, Encephalitis, Herpes Simplex, Immunotherapy, Prospective Studies, Middle Aged, Aged
Abstract

To report 14 patients with immune-mediated relapsing symptoms post-herpes simplex encephalitis (HSE) and to compare the clinical and immunologic features of the teenage and adult group with those of young children.

Published
2015

39. Autoimmune post–herpes simplex encephalitis of adults and teenagers

Author

Armangue, Thaís, primary, Moris, Germán, additional, Cantarín-Extremera, Verónica, additional, Conde, Carlos Enrique, additional, Rostasy, Kevin, additional, Erro, Maria Elena, additional, Portilla-Cuenca, Juan Carlos, additional, Turón-Viñas, Eulàlia, additional, Málaga, Ignacio, additional, Muñoz-Cabello, Beatriz, additional, Torres-Torres, Carmen, additional, Llufriu, Sara, additional, González-Gutiérrez-Solana, Luis, additional, González, Guillermo, additional, Casado-Naranjo, Ignacio, additional, Rosenfeld, Myrna, additional, Graus, Francesc, additional, and Dalmau, Josep, additional

Published
2015
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40. Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

Author

Quijada-Fraile, Pilar, primary, O’Callaghan, Mar, additional, Martín-Hernández, Elena, additional, Montero, Raquel, additional, Garcia-Cazorla, Àngels, additional, de Aragón, Ana Martínez, additional, Muchart, Jordi, additional, Málaga, Ignacio, additional, Pardo, Rafael, additional, García-Gonzalez, Pedro, additional, Jou, Cristina, additional, Montoya, Julio, additional, Emperador, Sonia, additional, Ruiz-Pesini, Eduardo, additional, Arenas, Joaquín, additional, Martin, Miguel Angel, additional, Ormazabal, Aida, additional, Pineda, Mercè, additional, García-Silva, María T, additional, and Artuch, Rafael, additional

Published
2014
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48. Herpes simplex virus encephalitis is a trigger of brain autoimmunity

Author

Armangué, Thaís, Leypoldt, Frank, Málaga, Ignacio, Raspall Chaure, Miquel, Marti, Itxaso, Nichter, Charles, Pugh, John, Vicente-Rasoamalala, Mónica, Lafuente-Hidalgo, Miguel, Macaya Ruiz, Alfons, Ke, Michael, Titulaer, Maarten J., Höftberger, Romana, Sheriff, Heather, Glaser, Carol, Dalmau Obrador, Josep, and Universitat de Barcelona

Subjects
nervous system, Autoimmunitat, mental disorders, Encephalitis, Encefalitis, Autoimmunity, Malalties cerebrals, Brain diseases, Herpes, Herpesvirus diseases
Abstract

In 5 prospectively diagnosed patients with relapsing post-herpes simplex encephalitis (HSE), N-methyl-D-aspartate receptor (NMDAR) antibodies were identified. Antibody synthesis started 1 to 4 weeks after HSE, preceding the neurological relapse. Three of 5 patients improved postimmunotherapy, 1 spontaneously, and 1 has started to improve. Two additional patients with NMDAR antibodies, 9 with unknown neuronal surface antibodies, and 1 with NMDAR and unknown antibodies, were identified during retrospective assessment of 34 HSE patients; the frequency of autoantibodies increased over time (serum, p=0.004; cerebrospinal fluid, p=0.04). The 3 retrospectively identified NMDAR antibody-positive patients also had evidence of relapsing post-HSE. Overall, these findings indicate that HSE triggers NMDAR antibodies and potentially other brain autoimmunity.

49. [Prevalence of autism spectrum disorders in USA, Europe and Spain: coincidences and discrepancies].

Author

Málaga I, Blanco-Lago R, Hedrera-Fernández A, Álvarez-Alvarez N, Oreña-Ansonera VA, and Baeza-Velasco M

Subjects
Age Factors, Autism Spectrum Disorder diagnosis, Demography trends, Europe epidemiology, Humans, Prevalence, Research Design standards, Spain epidemiology, United States epidemiology, Autism Spectrum Disorder epidemiology
Abstract

Autism spectrum disorders are a heterogeneous group of disorders that share the presence of two core symptoms: problems in social interaction / communication and the tendency to present restricted interests and repetitive behavior. Over the last years, several epidemiologic studies have been published by different authors in diverse countries, having all of them shown two common characteristics: a global increase in the prevalence rates of autism spectrum disorders, and the existence of a great geographical variability no only between geographical areas, but also within the same geographical areas. At the present manuscript, we analyze some of the most recent prevalence data published in USA and some European countries (including Spain). All of them show different prevalence rates, ranging from 1/59 children with autism spectrum disorders in the USA to 1/806 in Portugal. In a second part, we briefly describe some of the current scientific hypotheses that try to explain this variability.

Published
2019

50. [Wolf-Hirschhorn syndrome. A series of 27 patients: their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process].

Author

Blanco-Lago R, Málaga I, García-Peñas JJ, and García-Ron A

Subjects
Age Factors, Atrophy, Brain pathology, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 4 genetics, Chromosomes, Human, Pair 4 ultrastructure, Databases, Factual, Delayed Diagnosis, Epilepsy genetics, Facies, Female, Fetal Growth Retardation genetics, Growth Disorders genetics, Humans, Infant, Intellectual Disability genetics, Male, Phenotype, Spain epidemiology, Surveys and Questionnaires, Wolf-Hirschhorn Syndrome complications, Wolf-Hirschhorn Syndrome diagnosis, Wolf-Hirschhorn Syndrome genetics, Wolf-Hirschhorn Syndrome epidemiology
Abstract

Introduction: Wolf-Hirschhorn syndrome (WHS) is a chromosome pathology produced by a deletion in the distal region of the short arm of chromosome 4. It is characterised by the presence of a peculiar phenotype, delayed growth, delayed psychomotor development and epilepsy., Aims: To describe the characteristics of a series of children with WHS, including the mean amount of time spent on reaching the diagnosis, and to evaluate the opinion of the families about the diagnostic process., Patients and Methods: The researchers contacted the National WHS Association and, through them, contact was established with 29 families affected by the condition. Information was collected about the clinical features of the child and the opinion about the diagnostic process, and the families were asked to present medical reports that confirmed the information they had given. Once a database of information about the patients had been created, it was submitted to a statistical analysis., Results: Information was obtained on 27 families. The mean age of the patients is currently 6.94 ± 6.37 years. The mean age of diagnosis was 14.34 months. Delayed intrauterine growth exists in 92.6% of the pregnancies. Epilepsy is present in 92.6% of patients, 44.4% of them in monotherapy. Delayed psychomotor/cognitive development exists in all the patients. Thirty-three per cent of them can walk unaided. The parents rated the treatment offered by physicians with a mean score of 7.25 ± 2.17 and the information they were provided with was given a score of 6.29 ± 2.11., Conclusions: No references have been found regarding the mean age of diagnosis for WHS. In our sample there are important variations in this respect, possibly influenced by the phenotype of the case and the doctor's own experience. The clinical characteristics are similar to the ones that were expected. The estimated degree of dependence is high and, in contrast, the quality of the information received by the family is low.

Published
2013

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