Browsing by Author "Branco, Mariana"
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- Invaginação intestinal – uma etiologia raraPublication . Branco, Mariana; Sequeira, Ana Isabel; Martins, Sandrina; Bernardo, Teresa; Carneiro, AnaIntrodução:A invaginação intestinal é a causa mais comum de obstrução intestinal entre os três meses e os seis anos de idade. Embora maioritariamente idiopática, em 2 a 8% dos casos uma patologia subjacente pode ser identificada. Caso clínico:Adolescente de 12 anos de idade, sexo masculino, sem antecedentes familiares relevantes, encaminhado para a consulta para estudo após invaginação intestinal. Apresentava má evolução estaturo-ponderal e diarreia crónica. A investigação realizada excluiu doença celíaca, doença inflamatória intestinal e parasitose intestinal. A prova do suor foi positiva e em consulta de fibrose quística repetiu a prova do suor e realizou estudo genético que confirmaram o diagnóstico. Discussão/Conclusões: O caso clínico descrito pretende alertar para a importância de investigar uma patologia subjacente em determinadas crianças e adolescentes com invaginação intestinal. Neste caso o estudo levou ao diagnóstico de fibrose quística.
- Peripheral neuropathy in systemic vasculitis and other autoimmune diseases – a report of five cases emphasizing the importance of etiologic characterizationPublication . Rodrigues, Rita; Branco, Mariana; Silva, Renata; Ruano, Luís; Fontão, Luís; Lopes, Marta; Scigliano, Horácio; Taipa, Ricardo; Pires, Manuel; Santos, CatarinaIntroduction: Peripheral neuropathies may present in the context of systemic vasculitis and other autoimmune diseases. The etiologic characterization is crucial to define the treatment and prognosis in secondary vasculitis. The purpose of this study is to describe the pathway of etiologic investigation including the role of nerve biopsy. Methods: Retrospective analysis of patients seen in the neuromuscular outpatient clinic during the last four years with peripheral neuropathy in the context of systemic vasculitis or other autoimmune diseases. Results: We present five patients with stepwise progressive sensorimotor deficits of upper and lower limbs. All patients presented with systemic features and one of them had an established diagnosis of systemic vasculitis. They underwent an extended blood panel, including autoimmune and serologic tests. Electromyography and nerve conduction studies revealed asymmetric axonal sensorimotor polyneuropathies in four patients, and an axonal sensorimotor multiple mononeuropathy in one. Four patients underwent nerve biopsy and the other performed a skin biopsy, with findings suggestive of possible vasculitic processes. The etiologies identified included microscopic polyangiitis, HBV-related polyarteritis nodosa and two eosinophilic granulomatosis with polyangiitis. In the last patient a specific etiology could not be established. Conclusion: This series reveals the etiologic and phenotypic diversity of peripheral neuropathies related with systemic vasculitis. The therapeutic approach and prognosis were distinct in each patient, emphasizing the importance of a prompt diagnosis and appropriate treatment.
- The epidemiology of multiple sclerosis in the entre Douro e Vouga region of northern Portugal: a multisource population-based studyPublication . Branco, Mariana; Alves, Ivânia; Martins da Silva, Ana; Pinheiro, Joaquim; Sá, Maria José; Correia, Inês; Sousa, Lívia; Brandão, Eva; Veira, Carlos; Gomes, Bernardo; Ruano, LuisBackground: The prevalence of Multiple Sclerosis (MS) has been increasing worldwide and the north-south gradient of prevalence may be disappearing in the Northern hemisphere. The few previous prevalence studies performed in Portugal have reported a lower prevalence than the average for Western Europe. The aim of this study is to estimate the prevalence of MS in the Entre Douro e Vouga region, in Northern Portugal. Methods: Multiple overlapping sources were used to ascertain all cases from the reference population: records from hospitals in the region and neighbouring regions; diagnostic databases of primary care physicians; and applications for disability benefits. The prevalence date was set at 1 January 2014. The reference population was 274,859 inhabitants. Patients' neurologists were contacted to retrieve clinical information and confirm the diagnosis based. Results: A total of 177 patients were identified after eliminating duplicates from different sources. The female to male ratio was 1.9 and the mean age at disease onset was 33.5 (standard deviation: 10.3). Clinically isolated syndrome accounted for 9.0% of patients, relapsing remitting for 58.8%, secondary progressive for 20.3% and primary progressive for 11.8%. The prevalence was estimated in 64.4 patients per 100,000 (95% confidence interval: 54.9;73.9). Conclusions: In this study we report a higher point prevalence of MS than had been previously described in Portugal, but still far from the higher values recently reported in other Southern European countries.
- Trombose venosa profunda em idade pediátrica – estudo retrospetivo de 10 anosPublication . Sequeira, Ana Isabel; Branco, Mariana; Teles, Ariana; Costa, Mariana; Sousa, Beatriz; Ramalho, HelenaIntrodução e Objetivos: A trombose venosa profunda (TVP) e o tromboembolismo pulmonar são os componentes do tromboembolismo venoso (TEV) que, embora infrequente, é uma entidade emergente na pediatria. Apresentamos uma casuística cujo objetivo é a avaliação dos aspetos mais relevantes da TVP em idade pediátrica e da sua abordagem terapêutica. Metodologia: Revisão retrospetiva descritiva dos processos dos doentes internados na última década com o diagnóstico de TVP no Serviço de Pediatria da ULSAM. Resultados: Identificaram-se seis doentes, cinco deles do sexo feminino. A mediana de idades foi 17 anos. O edema do membro afetado esteve sempre presente e o segmento venoso mais atingido foi o ileofemoral (2/6). Houve concomitância de pelo menos dois fatores de risco adquiridos em três doentes, sendo o mais frequente o contracetivo oral combinado. Foi excluída trombofilia hereditária em cinco doentes mas ainda aguardamos o resultado do estudo de um doente. O tempo médio de tratamento foi de 9,8 meses. Discussão e Conclusão: A TVP na criança tem sido reconhecida como uma patologia rara, mas importante causa de morbilidade. A maior incidência de TVP foi documentada na adolescência com compromisso do membro inferior, tal como referido na literatura. Verificamos uma conjugação de fatores de risco que, provavelmente, se potenciaram entre si levando à ocorrência do TEV e colocamos a possibilidade do Pediatra se estar a deparar com uma nova realidade anteriormente excluída do atendimento pediátrico. O aumento na incidência desta patologia levanta a questão do acréscimo de risco trombótico nos adolescentes do sexo feminino devido à utilização de contracetivos orais combinados. Salientamos a importância de um consenso nacional no diagnóstico, tratamento e prevenção desta entidade em Pediatria.
- What role for the pacifier in acute otitis media risk?Publication . Silva Peixoto, Joana; França, Cíntia Cardal; Barge, Sílvio; Branco, MarianaIntroduction: Sucking reflex is acknowledged as a comforting mechanism for infants. When used for short periods of time, it is considered a healthy habit. Acute otitis media is one of the most frequent infections in pediatric age and has been associated with pacifier misuse.Objectives: To review available evidence regarding the association between pacifier use in the first years of life and otitis media risk.Methods: A literature search was conducted on several databases using MeSH terms “otitis” and “pacifiers” for guidelines, systematic reviews, randomized controlled trials, and observational studies over the last 20 years. SORT scale of the American Family Physician was used to evaluate evidence levels.Results: A total of 56 articles were retrieved, of which four guidelines, one systematic review, and one original article were selected. According to guidelines, there is no reason to discourage pacifier use, as it can be particularly beneficial in the first six months of life. Afterwards, pacifier use should be limited to moments of falling asleep. Its use should also be avoided in infants with chronic or recurrent otitis media. The systematic review stablished pacifier use as a risk factor for recurrent acute otitis media (RAOM) which is susceptible to intervention. In the observational study, a statistically significant association was found between pacifier use and RAOM risk.Conclusions: Pacifier use should not be actively discouraged in the first semester of life, as it can have beneficial effects for children (SORT A). Afterwards, its use should be discontinued due to increased otitis risk (SORT A).