Serviço de Pediatria
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- Abordagem diagnóstica e terapêutica das bronquiolites - revisão bibliográficaPublication . Bandeira, A.; Vieira, C.; Gomes, L.; Reis, G.; Guedes, M.RESUMO As bronquiolites são um problema de saúde frequente e potencialmente grave nos lactentes. Representam uma das principais causas de internamento hospitalar nos meses de Outono e Inverno. Até à data não existem estudos controlados e randomizados a provar a eficácia da maioria das atitudes terapêuticas. Os broncodilatadores, a adrenalina e os corticóides têm sido usados no tratamento, sem evidência comprovada da sua eficácia. Os autores fazem uma revisão dos conceitos de bronquiolite e dos níveis de evidência das várias atitudes terapêuticas, apresentando uma proposta de abordagem diagnóstica e terapêutica de acordo com a gravidade da situação clínica.
- Acute Fulminant Cerebral Edema in a Child With Suspected MeningoencephalitisPublication . Monteiro, Sara; Teixeira, Beatriz; Fraga, Carolina; Dias, Andreia; Cardoso, Ana Lúcia; Meireles, Daniel; Sarmento, Alzira; Ferreira, Paula Regina; Silva, João; Garrido, Cristina; Gonçalves, SaraAcute fulminant cerebral edema (AFCE) is a recently identified encephalitis type associated with significant morbimortality. Described as rare, limited data exists on its early detection and treatment. This paper describes a case of AFCE that progressed to unresponsive intracranial hypertension. A previously healthy four-year-old boy presented with fever, myalgias, and neurological symptoms. Diagnostic assessments showed cerebrospinal fluid abnormalities, and despite medical interventions, his condition deteriorated rapidly and developed severe cerebral edema and herniation within 24 hours. A decompressive craniectomy was attempted to decrease intracranial pressure, without success. This case emphasizes the urgency of early AFCE recognition and effective management strategies given its severe prognosis, aiming to improve understanding and spur further research
- ADAPTAÇÃO CULTURAL E LINGUÍSTICA DO CLUBFOOT ASSESSMENT PROTOCOLPublication . Caçador, Rita
- Alimentação, exercício físicio e doença cardiovascular em adolescentes. Conclusões.Publication . Mansilha, H.; Santos, M.Eventos clínicos cardiovasculares decorrentes de Doença Cardiovascular (DCV) estão entre as principais causas de morbilidade e mortalidade nos países industrializados As origens patofisiológicas das lesões responsá- veis, as lesões ateroscleróticas, podem datar de décadas previamente aos eventos clínicos, ou seja, durante a infância e adolescência. A maioria destes eventos clínicos cardiovasculares são determinados por factores de risco sobejamente conhecidos e que incluem necessariamente desequilíbrios dietéticos e sedentarismo. Estes factores de risco podem até já não estar presentes na vida adulta, mas condicionarão sempre a saúde cardiovascular, pelo que é de primordial importância zelar pela saúde do indivíduo desde a sua infância e adolescência A . Estratégias de adopção de estilos de vida saudáveis, focados em alimentação saudável e exercício, têm vindo a demonstrar eficácia na prevenção das DCV B . Neste sentido, o Grupo de Estudos de Risco Cardiovascular em conjunto com o Núcleo de Nutrição em Cardiologia da Sociedade Portuguesa de Cardiologia promoveram, no âmbito da Segunda Reunião Conjunta, um workshop subordinado ao tema “Alimentação, actividade física e DCV em adolescentes”. Desta reunião de trabalho foram retiradas algumas conclusões que serão relatadas de forma objectiva, para que possam servir de recomendações práticas para todos os profissionais de saúde que intervém com adolescentes e suas famílias
- Ambiguous Genitalia: An Unexpected Diagnosis in a NewbornPublication . Losa, Ana; Da Silva Cardoso, Juliana; Leite, Sara; Barros, Ana Cristina; Guedes, Ana; Rodrigues, Cidade; Borges, Teresa; Oliva-Teles, Natália; Soares, Ana Rita; Mota, CéuAlterations in gonad formation or function can lead to congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. These conditions are referred to as disorders of sex development (DSD) and have a heterogeneous etiology. The assessment of these children by a multidisciplinary team is crucial for an accurate diagnosis and should be initiated promptly due to the potentially life-threatening nature of congenital adrenal hyperplasia, a common cause of DSD. We present a neonate born at 39 weeks with a weak cry, slight hypotonia, poor suction reflex, peculiar facies, and ambiguous genitalia. From the study carried out, the abdominopelvic ultrasound revealed a nodular structure compatible with the left gonad. Aneuploidy screening confirmed the presence of the Y chromosome. Additionally, normal endocrinological studies and the karyotype showed a genotype compatible with cri-du-chat syndrome with partial trisomy of chromosome 3. Children with cri-du-chat syndrome characteristically exhibit a cat-like cry and distinctive facial features, along with developmental delay and intellectual disability. Duplication of 3p is a rare genetic disorder, usually associated with other chromosomal anomalies and congenital malformations, namely, of the genitals
- Anemia ferropriva refratária ao ferro: Uma entidade clínica de descrição e caracterização molecular recentesPublication . Raposo, F.; Melo, T.; Costa, M.; Pereira, M.; Cleto, E.; Costa, E:; Barbot, J.A anemia por défice de ferro é um importante problema de saúde a nível mundial. Até há poucos anos atrás, considerava--se este défice como sendo de natureza exclusivamente adquirida e os erros de metabolismo eram atribuídos unicamente a patologia de sobrecarga. A descoberta da molécula de hepcidina e a descrição e caracterização molecular da anemia ferropriva refratária ao ferro veio contrariar essa anterior convicção. Os autores apresentam os casos clínicos de duas doentes, primas em segundo grau, com diagnóstico de anemia ferropriva refratária ao ferro, com o objetivo de alertar para esta etiologia, aquando do diagnóstico de uma anemia ferropriva de etiologia desconhecida e refratária a terapêutica com ferro oral e endovenoso
- Association between attention-deficit/hyperactivity symptoms and sleep in preschoolersPublication . Gomes, Rita; Sousa, Bebiana; Gonzaga, Diana; Prior, Catarina; Rios, Marta; Vaz Matos, InêsIntroduction: Sleep problems are frequent in children with attention-deficit/hyperactivity disorder (ADHD). Some authors have tried to characterize paediatric sleep habits in Portugal, but none has focused on preschool-age children nor attempted to establish their association with ADHD. We aimed to assess the prevalence of ADHD symptoms in preschool-age children and to study their association with sleep habits. Material and methods: We conducted a cross-sectional study. We distributed questionnaires to a random sample of caregivers of children enrolled in early childhood education centres in Porto. We collected data on sociodemographic characteristics, television watching and outdoor activities. We assessed ADHD symptoms and sleep habits with the Portuguese versions of the Conners' Parents Rating Scale, Revised and the Children's Sleep Habits Questionnaire (CSHQ-PT), respectively. Results: The study included 381 preschoolers (50.90% male). We found high scores for ADHD symptoms in 13.10%, with a higher prevalence in girls (14.40% vs. 11.85%; P = 0.276). In the CSHQ-PT, 45.70% of participants had a mean total score greater than 48, which is the cut-off point applied in the screening of sleep disturbances in the Portuguese population. There was a significant association between high scores for ADHD symptoms and a lower maternal education level (P < 0.001), a shorter sleep duration (P = 0.049), and higher scores on parasomnias (P = 0.019) and sleep disordered breathing (P = 0.002) in CSHQ-PT subscales. Conclusions: ADHD and sleep disorders are common in preschoolers, in Porto, and this study suggests some clinical correlations between them. Since these interactions are complex and far from being elucidated, further studies are paramount to provide guidance for prevention and managing strategies in younger children at risk for ADHD.
- Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?Publication . Maia, N; Nabais Sá, Maria João; Oliveira, Cláudia; Santos, Flávia; Soares, Celia A; Prior, Catarina; Tkachenko, Nataliya; Santos, Rosário; de Brouwer, Arjan P. M.; Jacome, Ariana; Porto, Beatriz; Jorge, PaulaWe describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to DNA repair: a de novo X-linked HDAC8 pathogenic variant, a paternally inherited FANCG pathogenic variant and a maternally inherited BRCA2 variant of uncertain significance. The full spectrum of the phenotype cannot be explained by any of the heterozygous variants on their own; thus, a synergic contribution is proposed. Complementation studies showed that the FANCG gene from the Fanconi Anaemia/BRCA (FA/BRCA) DNA repair pathway was impaired, indicating that the variant in FANCG contributes to the cellular phenotype. The patient's chromosome instability represents the first report where heterozygous variant(s) in the FA/BRCA pathway are implicated in the cellular phenotype. We propose that a multigenic contribution of heterozygous variants in HDAC8 and the FA/BRCA pathway might have a role in the phenotype of this neurodevelopmental disorder. The importance of these findings may have repercussion in the clinical management of other cases with a similar synergic contribution of heterozygous variants, allowing the establishment of new genotype-phenotype correlations and motivating the biochemical study of the underlying mechanisms.
- Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case DescriptionPublication . Da Silva Cardoso, Juliana; Gomes, Rita; Abreu, Maria; Parente Freixo, João; Falcão Reis, Cáudia; Garrido, CristinaThe diagnosis of early infantile epileptic encephalopathy (EIEE) remains challenging, and next-generation sequencing (NGS) techniques have played a key role in identifying genetic causes. Recent studies have shown an association between mutations in the CYFIP2 gene and EIEE, with 20 deleterious variants reported so far and a de novo mutational hotspot at codon 87. A male infant presented with seizures since the age of four months as well as significant developmental delay and microcephaly. The seizures were of different types, frequent and refractory to treatment, including different anticonvulsant drugs. Metabolic studies showed no significant changes. The initial electroencephalogram revealed bilateral paroxysmal activity with hemispherical diffusion. Brain MRI showed no pathological changes. Analysis of a whole exome sequencing (WES) based multigene panel for epilepsy disclosed a heterozygous CYFIP2 gene variant [c.258_266del; p.(Trp86_Ser88del)] established as de novo. We describe the case of an infant with EIEE due to a de novo heterozygous in-frame deletion of three amino acids in CYFIP2: c.258_266del; p.(Trp86_Ser88del). This in-frame deletion eliminates codon 87, a mutational hotspot associated with a particularly severe EIEE phenotype. All previous reports had missense variants with a presumably gain-of-function mechanism. The clinical picture of our patient is very similar to the ones with deleterious variants affecting codon 87 reported in the literature. Our case report is the first to describe a disease-causing in-frame deletion in CYFIP2 and reiterates a consistent genotype-phenotype correlation.
- Como transporta os seus filhos?Publication . Borges, A.; Costa, E.; Pinto, M.; Costa, M.RESUMO Os acidentes rodoviários são a principal causa de morte e incapacidade temporária e definitiva em crianças e jovens em Portugal. Objectivo: Caracterizar a forma como os pais transportam os seus filhos em veículos motorizados ao Serviço de Urgência (SU), bem como o grau de informação sobre o transporte, relacionando-o com o perfil sócio-cultural e demográfico da amostra. Material e Métodos: Estudo analítico e aleatório, com base em questionário aplicado aos pais das crianças atendidas no SU do Hospital de São Miguel, sem motivo de urgência/emergência, no período de Novembro de 2003 a Abril de 2004. Para a análise dos resultados foram considerados 4 grupos etários, tendo em conta a forma de transporte seguro (< 18 meses, 18 meses aos 3 anos, 4 aos 6 anos, 7 aos 13 anos). Resultados: Foram obtidos 254 questionários. A média de idades foi de 3 anos e 1 mês (mínima 1 mês e máxima 13 anos), com um predomínio das crianças com idade ≤ 18 meses (39%). A maioria das famílias era de nível social médio baixo (Graffar IV – 51%) ou médio (Graffar III – 33%). O tipo de transporte mais utilizado foi o automóvel (99%). Apenas 35% da amostra estudada transportava as suas crianças de forma correcta, com base nas normas e dispositivos de segurança adequados, actualmente em vigor. A protecção correcta foi mais frequente nas crianças entre os 18 meses e os 3 anos – 54% contra 31% do resto da amostra. Uma maior protecção correcta foi associada aos níveis de escolaridade mais elevados dos progenitores. Apesar de 53 pais terem sofrido algum acidente de viação, apenas 38% consideraram que o acidente teve alguma repercussão na forma como os seus filhos são transportados. É de salientar que 63% dos inquiridos desconhecia qualquer tipo de campanha de prevenção / ensino da forma correcta de transporte das crianças. Comentários e Conclusões: Verificámos que, na amostra estudada, a utilização dos sistemas de retenção de forma correcta e segura para o transporte de crianças é altamente insuficiente, sendo emergente implementar medidas que alterem estes comportamentos. ABSTRACT Road accidents are the main cause of death and of temporary and definitive incapacity in children and youths in Portugal. Objective: To characterize the way parents transport their children in motorized vehicles to the Emergency Department (ED), their knowledge about child passenger safety and the influence of the socio-cultural and demographic profile on their attitude. Material and Methods: Analytical and random study based on a questionnaire applied to the parents of the children that were evaluated in the ED of the Hospital of Sao Miguel, with no urgency or emergency cause of attendance, from November/ 2003 to April/2004. We considered four groups according to the age and the different ways of safe transport (bellow 18 months, 18 months to 3 years, 4 to 6 years, 7 to 13 years). Results: We obtained 254 questionnaires. The average age was 3 years and 1 month (minimum 1 month, maximum 13 years), with a predominance of children aged less than 18 months (39%). The majority of families belonged to low (Graffar IV - 51%) or medium (Graffar III - 33%) social level. The automobile was the most common way of transportation (99%). Only 35% of the studied sample transported their children based on the right legal norms and adequate safety devices. Right protection was more frequent in children between 18 months and 3 years - 54%, versus 31% in the rest of the sample. Better safety procedures were associated with high educational levels of the parents. Fifty-three parents suffered a road accident, however only 38% considered that the accident had some repercussion in the form their children were transported. It is import to point out that 63% of the inquired parents were unaware of any type of campaign of prevention about child passenger safety. Commentaries and Conclusions: In this study, we verified that the use of child restraints in the right and safe way is highly insufficient and it is emergent to implement measures to change these behaviours and prevent children’s death and incapacity.