Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Sofia Quintas"'
Autor:
Carolina Ferreira Gonçalves, Patrícia Lipari Pinto, Ana Raquel Claro, Joana Coelho, Sofia Quintas, Márcia Rodrigues, Paula Costa, Ana Margalha Miranda, Mónica Rebelo, Célia Nogueira, Patrícia Janeiro, Ana Gaspar
Publikováno v:
Journal of Pediatric and Neonatal Individualized Medicine, Vol 13, Iss 1, Pp e130111-e130111 (2024)
Defects in the mitochondrial DNA (mtDNA) cause mtDNA depletion syndrome (MTDPS), a subclass of mitochondrial disorders that are genetically and phenotypically heterogeneous. MTDPS is a rare autosomal recessive disease caused by a mutation of a nuclea
Externí odkaz:
https://doaj.org/article/8a4f4f77c2a54e5da9dc5fde1feb02a7
Publikováno v:
Portuguese Journal of Pediatrics, Vol 55, Iss 1 (2024)
Sturge-Weber syndrome (SWS) is a sporadic congenital vascular disorder which typically presents with a facial port-wine stain and capillary malformations affecting the brain and eye. We present the case of a 15-month-old boy admitted to the paediatri
Externí odkaz:
https://doaj.org/article/bda225cf1188400cb37186c1ab060170
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies
Autor:
Tobias Baumgartner, Mar Carreño, Rodrigo Rocamora, Francesca Bisulli, Antonella Boni, Milan Brázdil, Ondrej Horak, Dana Craiu, Cristina Pereira, Renzo Guerrini, Victoria San Antonio‐Arce, Andreas Schulze‐Bonhage, Sameer M. Zuberi, Tove Hallböök, Reetta Kalviainen, Lieven Lagae, Sylvie Nguyen, Sofia Quintas, Ana Franco, J. Helen Cross, Matthew Walker, Alexis Arzimanoglou, Sylvain Rheims, Tiziana Granata, Laura Canafoglia, Cecilie Johannessen Landmark, Arjune Sen, Rohini Rattihalli, Rima Nabbout, Elena Tartara, Manuela Santos, Rui Rangel, Pavel Krsek, Petr Marusic, Nicola Specchio, Kees P. J. Braun, Patricia Smeyers, Vicente Villanueva, Katarzyna Kotulska, Rainer Surges
Publikováno v:
Epilepsia Open, Vol 6, Iss 1, Pp 160-170 (2021)
Abstract Objective Clinical care of rare and complex epilepsies is challenging, because evidence‐based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The
Externí odkaz:
https://doaj.org/article/69517d96215647e1a494c4132cfe2998
Autor:
Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 2-9 (2020)
Abstract Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transamina
Externí odkaz:
https://doaj.org/article/29dc8333e01c4efd916f41810852bfb1
Publikováno v:
Acta Médica Portuguesa, Vol 33, Iss 6 (2020)
Introdução: As encefalopatias epilépticas da infância constituem um grupo de patologias de início precoce e prognóstico neurológico reservado. O desenvolvimento das novas técnicas de estudo genético foi responsável pela identificação de n
Externí odkaz:
https://doaj.org/article/c9b2c7cd23564e58af81f97a68383462
Publikováno v:
Revista de Estudios e Investigación en Psicología y Educación, Iss 11 (2017)
Projeto de intervenção no domínio da Terapia Assistida por Animais, com cães, em contexto de Unidades de Multideficiência. Definiram-se objetivos individuais e planificaram-se as sessões em função dos mesmos, que decorreram durante dois meses
Externí odkaz:
https://doaj.org/article/1ffe0811d4534e0ea3ea0935e1df4506
Publikováno v:
Revista Portuguesa de Pneumologia, Vol 9, Iss 4, Pp 337-352 (2003)
RESUMO: Com o intuito de caracterizar a evolução do perfil epidemiológico das infecções bacterianas do aparelho respiratório dos doentes com Fibrose QuÃstica (FQ), os autores realizaram um estudo retrospectivo da prevalência e
Externí odkaz:
https://doaj.org/article/489e490f717541928019125af2c507db
Publikováno v:
Revista Portuguesa de Pneumologia, Vol 9, Iss 5, Pp 465-466 (2003)
Com o intuito de caracterizar a evolução do perfil epidemiológico das infecções bacterianas do aparelho respiratório dos doentes com Fibrose QuÃstica (FQ), os autores realizaram um estudo retrospectivo da prevalência e incidÃ
Externí odkaz:
https://doaj.org/article/cbb174584da74e6dac4e673c75a764dd
Autor:
Sofia Quintas, Francisco Abecasis, Ana Sofia Vilardouro, Catarina Marques Duarte, Duarte Rebelo
Publikováno v:
Acta Neurologica Belgica. 122:485-495
Posterior reversible leukoencephalopathy syndrome (PRES) is a rare entity among children, characterised by acute neurological symptoms and radiological findings. The role of clinical symptoms and neuroimaging in predicting the prognosis of PRES have