Browsing by Author "Silva, Joana"
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- Acute Campylobacter spp. gastroenteritis in the Pediatric Emergency Department of a level II hospitalPublication . Sá, Liliana; Pinheiro, Teresa; Silva, Joana; Pedrosa, Adriana; Soares, Laura; Costa, Miguel; Rocha, CristinaIntroduction: Campylobacter spp. is the main cause of pediatric acute bacterial gastroenteritis (ABG) in the European Union, with greater incidence in children under five years old. Most patients present complete recovery within days of infection, with no associated comorbidities. Antibiotic therapy should be reserved for severe cases. Objectives: The aim of this study was to investigate the epidemiology, symptoms, treatment, and complications of Campylobacter spp. infection in pediatric patients with ABG. Material and methods: Case-by-case review of the clinical records of patients evaluated in the Pediatric Emergency Department of a level II hospital with a diagnosis of ABG and Campylobacter spp. isolated from stool samples over a five-year period (2013-2017). Results: Of the 1990 stool tests performed, 637 (32%) were positive for the presence of bacteria. Campylobacter spp. was identified in the samples of 459 patients (72%). Eighteen patients were excluded for insufficient data, making up a final sample of 441 patients, with a mean age of three years old. Clinically, patients presented with aqueous diarrhea (59.6%), bloody diarrhea (43.8%), bloody and mucus diarrhea (15.4%), mucus diarrhea (3.9%), vomiting (36.3%), abdominal pain (24.3%), fever (63%), seizures (0.9%), and rash (0.2%). Eighty-nine patients were hospitalized. Eleven patients received antibiotic therapy. Discussion: This study represents the largest national case-by-case review of ABG by Campylobacter spp. in the pediatric population. Campylobacter was the main bacteria identified, mostly associated with self-limited disease. Conclusion: A judicious use of stool tests allows etiological identification in ABG. The growing number of cases of ABG by Campylobacter spp. reinforces the need for better hygiene procedures.
- Becker Muscular Dystrophy in Pediatric Population: Diagnosis, Genetic Variability, and Disease ProgressionPublication . Ribeiro, Mário; Silva, Joana; Gonçalves, Ana; Santos, Manuela; Garrido, CristinaIntroduction: Becker muscular dystrophy (BMD) is an X-linked neuromuscular disease caused by variants in the DMD gene that leads to progressive muscle weakness, dilated cardiomyopathy, and neurodevelopmental issues. Objective: To characterize patients with BMD from a pediatric neuromuscular disease center. Methods: Retrospective and descriptive study of BMD patients diagnosed between January 1995 and May 2024. Results: A total of 22 male cases were identified, with 9/22 reporting family history of BMD. First symptoms appeared at a median age of 3.0 years (IQR 4.5) and included unstable gait (5/22), fatigue (5/22), myalgias (4/22), asymptomatic elevation of creatine kinase (3/22), delayed motor development (3/22), and myoglobinuria (2/22). Average age at diagnosis was 7.7 years (IQR 5.6). The most frequent genetic alteration was a deletion involving exon 48 of the DMD gene (8/22). The developmental issues identified were intellectual disability (5/22), attention-deficit/hyperactivity disorder (ADHD) (3/22), autism spectrum disorder (1/22), and specific language impairment (1/22). Dilated cardiomyopathy developed at pediatric age in 1 patient, and 3 started corticosteroid therapy owing to worsening motor symptoms. The average follow-up time was 8.7 years (SD 1.1). Conclusion: The phenotypic variability of BMD complicates its diagnosis, but early recognition is crucial for conducting appropriate monitoring and genetic counseling as well as family studies. Our findings highlight the need for multidisciplinary follow-up, particularly due to the significant prevalence of neurodevelopmental problems.
- Childhood neglect: Another perspective on childhood obesityAzevedo, Inês Alexandra; Aguiar, Benedita Bianchi; Silva, Joana; Marques, Elizabeth; Silva, Maria José; Monteiro, Virgínia; Gomes, Lúcia; Costa, MiguelChildhood obesity is a multifactorial condition. Extreme cases are often associated with the inability of caregivers to follow the recommended diet plan, despite prior warnings of the potential risks associated of non-compliance.A seven-year-old girl with a body mass index (BMI) of 38.6 kg/m2 (z-score +7.3) and multiple comorbidities was seen in a Pediatric Nutrition outpatient consultation. After several attempts to educate her guardians about the potential risks of obesity, the girl was referred for a multidisciplinary evaluation and placed in a children’s home. With adequate nutrition and regular exercise, significant improvements were achieved in BMI (23.5 kg/m2; z-score +2.06). After three years, the girl was returned to her family home by court order, with subsequent worsening of her BMI (maximum 40.7 kg/m2; z-score +4.07), despite information provided by the medical team to social services and the court. Given that caregivers play an essential role in the prevention of childhood obesity, persistent refusal to follow therapeutic recommendations coupled with indifference in the face of red flags meets the criteria for abuse.
- Tumefação craniana de novo – um desafio diagnósticoPublication . Ferreira, Ana Maria; Silva, Joana; Monteiro, Virginia; Tavares, Susana; Araújo, Ricardo; Rocha, CristinaA Coleção Líquida Subaponevrótica (CLS) é uma tumefação craniana benigna e, provavelmente, subdiagnosticada, que surge poucas semanas após o nascimento. Descreve-se o caso de uma lactente com antecedentes de parto distócico por ventosa e cefalohematoma occipitoparietal reabsorvido no período neonatal. Aos dois meses de idade, desenvolve, de novo, uma tumefação occipitoparietal direita de consistência mole e móvel nos planos superficiais, transluzente, indolor e sem sinais inflamatórios. Manteve-se clinicamente estável, sem outras alterações ao exame físico e no estudo analítico sumário. A ressonância magnética nuclear cranioencefálica evidenciou uma coleção líquida subgaleal. Foi postulado o diagnóstico de CLS e, com atitude conservadora expectante verificou-se reabsorção total após dois meses. Apesar do impacto da sua apresentação clínica, trata-se de uma entidade benigna que os prestadores de cuidados de saúde devem estar aptos a identificar e orientar.