Departamento da Infância e Adolescência
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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
- Associação de Arco Aórtico Cervical a Delecção 22q11 – Papel da RMN no DiagnósticoPublication . Almeida, R.; Álvares, S.; Fortuma, A.; Moreira, J.; Vieira, A.As anomalias do arco aórtico são relativamente comuns, ocorrendo em 0,5-3% da população, tendo recentemente sido reconhecidas como fazendo parte do espectro de anomalias cardiovasculares associadas à delecção do cromossoma 22q11. Actualmente a RMN surge como mais um método disponível para o seu diagnóstico, pois permite definir com precisão a anatomia vascular (nomeadamente da aorta) e as suas relações com a traqueia e esófago, obviando as limitações da ecocardiografia convencional de superfície e evitando algumas das desvantagens da angiografia convencional, nomeadamente o uso de radiação ionizante e de contraste iodado. Apresentam-se dois casos de arco aórtico cervical e CIV associados ao síndrome de DiGeorge (CATCH22 +), em cujos diagnósticos foram utilizadas a angiografia convencional e a angioressonância, respectivamente.Aortic arch anomalies are relatively common, occurring in 0.5-3% of the population. In recent years, they have been recognized as being among the cardiovascular malformations found in chromosome 22q11 deletion. MRI is now an alternative method of diagnosing aortic arch anomalies since it accurately defines aortic anatomy and its relation with the trachea and esophagus, with some advantages in comparison with echocardiography and conventional angiography. The authors present two cases of cervical aortic arch and VSD associated with DiGeorge syndrome (CATCH22 +), diagnosed by conventional angiography and magnetic resonance imaging, respectively.
- 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.
- Cardiac involvement in metabolic diseasesPublication . PEREIRA, A.; MARTINS, E.; CARVALHO, C.; ALVARES, S.Rev Port Cardiol. 1999 Jan;18(1):53-7. [Cardiac involvement in metabolic diseases] [Article in Portuguese] Pereira A, Martins E, Carvalho C, Alvares S. Unidade de Cardiologia Pediátrica, Hospital de Crianças Maria Pia. Erratum in: Rev Port Cardiol 1999 Feb;18(2):131. Abstract OBJECTIVE: To evaluate cardiac involvement in children with metabolic disease in the out patient clinic of the Pediatric Cardiology Unit of Maria Pia Children's Hospital and their follow-up. MATERIAL AND METHODS: Twenty-nine medical records belonging to out patients with metabolic disease in consultation at our unit were reviewed. The following data from each record was analyzed: sex, metabolic disease diagnosis, age and motive for referral to a pediatric cardiology unit, cardiology diagnosis, therapy and evolution. RESULTS: Seventeen patients were boys and 12 girls. The average age of referral was 7.2 years (SD 4.8). The motives for referral were: screening for heart disease, 16; heart murmur, 7; congestive heart failure, 3; heart murmur and fatigue, 2; poor weight gain, 1. The following metabolic diagnoses were made: lysosomal diseases, 21; mitochondrial citopathies, 5; disorder of beta-oxidation of fatty acids, 2; carbohydrate deficient glycoprotein syndrome (CDG syndrome), 1. The cardiologic evaluation was normal in ten patients (4 with lysosomal disease, 4 with mitochondrial citopathy, one disorder of beta-oxidation of fatty acids, the CDG syndrome). Mitral and aortic valve lesions predominated in lysosomal diseases (12/21); myocardial involvement alone was present in two patients, and both myocardial and valvular lesions were present in three. Dilated cardiomyopathy was the presented manifestation in two patients-one with mitochondrial citopathy and one with a disorder of beta-oxidation of fatty acids. Three patients died and 26 remain out-patients. One patient was submitted to valve surgery. The average duration of follow-up was 21 months (SD 24). COMMENTS: Lysosomal diseases were the most representative in our patients, as described in the literature. Heart valve disease was the most frequent alteration. Indication for heart valve surgery is dependent on systemic involvement of the primary disease. All children with a metabolic disease with eventual heart involvement should be evaluated periodically by a cardiology unit. On the other hand, it is mandatory to screen a cardiomyopathy of unknown cause for a metabolic disease. The authors draw attention to the importance of infectious endocarditis prophylaxis in this group of patients. PMID: 10091525 [PubMed - indexed for MEDLINE