Browsing by Author "Santos, Manuela"
Now showing 1 - 3 of 3
Results Per Page
Sort Options
- Desidratação hipernatrémica no recém-nascidoPublication . Sousa, Vânia; Carrusca, Catarina; Santos, ManuelaNo passado, a hipernatrémia nos recém-nascidos saudáveis ocorria frequentemente por diluições incorretas da fórmula para lactantes (hiperconcentrado em sódio). Atualmente, a ingestão insuficiente de leite materno tem sido referida como a causa mais comum de desidratação hipernatrémica no recém-nascido de termo saudável. O diagnóstico é habitualmente feito de forma acidental durante a pesagem do recém-nascido e no caso de perda ponderal importante. As manifestações clínicas, quando presentes, são habitualmente inespecíficas e tardias, predomi¬nando a sintomatologia neurológica como resultado de uma desidratação intracelular. O tratamento deve ser cauteloso de forma a prevenir o aparecimento de complicações, sobretudo as convulsões, que podem surgir durante a correção rápida da hipernatrémia por sobrehidratação das células neuronais. Os profissionais de saúde devem continuar a recomendar o aleitamento materno exclusivo como o método de eleição para a nutrição de recém-nascidos saudáveis. Contudo, é fundamental um elevado nível de suspeição e um reconhecimento precoce das principais dificuldades subjacentes à amamentação, antes da instalação de uma desidratação grave e potencialmente fatal.
- Dravet Syndrome − experience of a Neuropediatric UnitPublication . Figueiredo Costa, Marcos; Rocha, Ruben; Baptista, Cristina Freitas; Santos, Manuela; Figueiroa, Sónia; Carrilho, Inês; Temudo, TeresaIntroduction: Dravet syndrome (DS) is a rare and complex genetic epilepsy syndrome. The first seizures are generally induced by fever in the first year of life of a previously healthy child, and the condition is typically associated with impaired psychomotor development. The authors present a clinical review of DS patients followed at a Neuropediatric Unit of a level III Pediatric Hospital. Material and methods: Retrospective study of pediatric patients with DS followed at a Neuropediatric Unit between 2001 and 2019. Results: Twenty-two patients were diagnosed and followed in this institution. The median (interquartile range [IQR]) age at first seizure was 4.5 (4-5.75) months, which was described as generalized tonic-clonic, focal seizure, or focal to bilateral tonic-clonic seizure, and 95% of patients had fever during this first episode. Neuroimaging and first electroencephalogram (EEG) were normal in all patients. SCN1A gene mutations were detected in 21 (95%) patients. All patients underwent multiple antiepileptic drug (AED) regimens. Psychomotor development was delayed in 20 (91%) patients, and 13 (59%) presented ataxia. At the end of follow-up, the median (IQR) age was 19 (8-23) years, with no reported deaths. Discussion: The characteristics of the first DS seizures are crucial for diagnosis, which can be supported by genetic sequencing, with most patients presenting an SCN1A gene mutation. Neuroimaging and EEG are typically normal at disease onset, but most patients present EEG abnormalities over time. Seizure management can be challenging, requiring a combination of multiple AEDs. Conclusion: DS is a progressive disease associated with poor cognitive and motor skill outcomes, resulting in great morbidity. Early diagnosis can help avoid unnecessary studies, optimize the therapeutic strategy, allow genetic counseling, and improve long-term outcomes.
- A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsiesPublication . Baumgartner, Tobias; Carreño, Mar; Rocamora, Rodrigo; Bisulli, Francesca; Boni, Antonella; Brázdil, Milan; Horak, Ondrej; Craiu, Dana; Pereira, Cristina; Guerrini, Renzo; San Antonio‐Arce, Victoria; Schulze‐Bonhage, Andreas; Zuberi, Sameer M.; Hallböök, Tove; Kalviainen, Reetta; Lagae, Lieven; Nguyen, Sylvie; Quintas, Sofia; Franco, Ana; Cross, J. Helen; Walker, Matthew; Arzimanoglou, Alexis; Rheims, Sylvain; Granata, Tiziana; Canafoglia, Laura; Johannessen Landmark, Cecilie; Sen, Arjune; Rattihalli, Rohini; Nabbout, Rima; Tartara, Elena; Santos, Manuela; Pereira Rangel Pinho, Rui Jorge; Krsek, Pavel; Marusic, Petr; Specchio, Nicola; Braun, Kees P. J.; Smeyers, Patricia; Villanueva, Vicente; Kotulska, Katarzyna; Surges, RainerObjective: 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 pathomechanisms of rare epilepsies are, however, increasingly understood, which potentially fosters novel targeted therapies. The objectives of our survey were to obtain an overview of the clinical practice in European tertiary epilepsy centers treating patients with 5 arbitrarily selected rare epilepsies and to get an estimate of potentially available patients for future studies. Methods: Members of the European Reference Network for rare and complex epilepsies (EpiCARE) were invited to participate in a web-based survey on clinical practice of patients with Dravet syndrome, tuberous sclerosis complex (TSC), autoimmune encephalitis, and progressive myoclonic epilepsies including Unverricht Lundborg and Unverricht-like diseases. A consensus-based questionnaire was generated for each disease. Results: Twenty-six of 30 invited epilepsy centers participated. Cohorts were present in most responding centers for TSC (87%), Dravet syndrome (85%), and autoimmune encephalitis (71%). Patients with TSC and Dravet syndrome represented the largest cohorts in these centers. The antiseizure drug treatments were rather consistent across the centers especially with regard to Dravet syndrome, infantile spasms in TSC, and Unverricht Lundborg / Unverricht-like disease. Available, widely used targeted therapies included everolimus in TSC and immunosuppressive therapies in autoimmune encephalitis. Screening for comorbidities was routinely done, but specific treatment protocols were lacking in most centers. Significance: The survey summarizes the current clinical practice for selected rare epilepsies in tertiary European epilepsy centers and demonstrates consistency as well as heterogeneity in the treatment, underscoring the need for controlled trials and recommendations. The survey also provides estimates for potential participants of clinical trials recruited via EpiCARE, emphasizing the great potential of Reference Networks for future studies to evaluate new targeted therapies and to identify novel biomarkers.