Browsing by Author "Martins, Alexandra"
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- Um achado incomum no exame da fontanela anteriorPublication . Pinho, Catarina Marques; Teixeira, Joana Vidal; Nogueira, Antony; da Silva, Ana Ribeiro; Martins, AlexandraIntrodução: A palpação da fontanela anterior permite avaliar o volume e pressão intracranianos. Uma fontanela tensa numa criança tranquila e observada em posição vertical sugere hipertensão intracraniana, que pode ter várias etiologias, nomeadamente processos neoformativos. Caso clínico: Uma lactente do sexo feminino, de dois meses de idade, recorreu a consulta na sua Unidade de Saúde Familiar por tumefação na fontanela anterior. Objetivou-se a presença de tumefação nodular, de consistência mole, com cerca de 1 cm de maior diâmetro. A ecografia transfontanelar revelou um provável quisto epidermoide. A lactente foi referenciada para Cirurgia Pediátrica, tendo realizado ecografia de controlo após dois meses, que revelou crescimento da lesão, motivo pelo qual foi referenciada para Neurocirurgia. Efetuou ressonância magnética encefálica, que confirmou o diagnóstico ecográfico e excluiu comunicação da lesão com estruturas endocranianas. A lactente manteve seguimento por Neurocirurgia e foi decidido manter vigilância até a fontanela encerrar para realização da cirurgia de exérese. O exame histológico confirmou o diagnóstico de quisto dermoide. Discussão:A vigilância clínica e os achados dos exames imagiológicos demonstraram o carácter benigno da lesão, permitindo adiar a intervenção cirúrgica.
- Linear IgA bullous dermatosis: report of an exuberant clinical case and literature reviewPublication . Pereira, Sandra; Martins, Alexandra; Oliveira, Teresa; Monteiro, VirgíniaIntroduction: Linear IgA dermatosis (LIGAD) is a rare acquired disease, with a probable autoimmune origin. Its differential diagnosis involves other bullous dermatosis. Case Report: A previously healthy 12-month-old male was observed at the Emergency Department due to a 4-day itchy vesiculobullous rash in the perineal region, lower abdomen, hands, and feet. Analytical study was normal. Flucloxacillin and hydroxyzine were initiated without improvement. New (some of which confluent) lesions, erosions, and serohematic crusts developed on the periphery of previous lesions. A skin biopsy was performed at this time, revealing a subepidermal blister with neutrophilic infiltrate at histological examination. Direct immunofluorescence uncovered linear IgA deposits along the basement membrane. Lesion remission occurred without further therapeutic measures. Discussion: Although clinically exuberant, LIGAD is usually a self-limited disease. A high degree of suspicion is important, since immunofluorescence is diagnostic and pathognomonic, avoiding late diagnosis, unnecessary treatments, and parental anxiety.
- Predictors for incomplete response to ursodeoxycholic acid in primary biliary cholangitis. Data from a national registry of liver diseasePublication . Cortez‐Pinto, Helena; Liberal, Rodrigo; Lopes, Susana; Machado, Mariana V.; Carvalho, Joana; Dias, Teresa; Santos, Arsénio; Agostinho, Cláudia; Figueiredo, Pedro; Loureiro, Rafaela; Martins, Alexandra; Alexandrino, Gonçalo; Cotrim, Isabel; Leal, Carina; Presa, José; Mesquita, Mónica; Nunes, Joana; Gouveia, Catarina; Vale, Ana Horta e; Alves, Ana Luísa; Coelho, Mariana; Maia, Luís; Pedroto, Isabel; Banhudo, António; Pinto, João Sebastião; Gomes, Marta Vargas; Oliveira, Joana; Andreozzi, Valeska; Calinas, Filipe; on behalf of Liver.pt, nullBackground: The current standard of treatment in primary biliary cholangitis (PBC) is ursodeoxycholic acid (UDCA), although a considerable proportion of patients show incomplete response resulting in disease progression. Objective: This study aimed to assess the prevalence of incomplete response to UDCA and determine associated patients' characteristics. Methods: Patients with PBC as main diagnosis were included from a national multicentric patient registry-Liver.pt. Main endpoints included incomplete response to UDCA treatment according to Barcelona, Paris I and Paris II criteria, Globe and UK PBC scores and the association between baseline characteristics and incomplete response according to Paris II criteria. Results: A total of 434 PBC patients were identified, with a mean age of 55 years and 89.2% females. Nearly half of patients were asymptomatic at diagnosis and 93.2% had positive anti-mitochondrial antibodies. Almost all patients (95.6%) had been prescribed at least one drug for PBC treatment. At the last follow-up visit, 93.3% were under treatment of which 99.8% received UDCA. Incomplete response to UDCA was observed in 30.7%, 35.3%, 53.7% and 36.4% of patients according to Barcelona, Paris I, Paris II criteria and Globe score, respectively. After adjusting for age and sex, and accordingly to Paris II criteria, the risk for incomplete biochemical response was 25% higher for patients with cirrhosis at diagnosis (odds ratio [OR] = 1.25; 95% confidence interval [95%CI]: 1.02-1.54; p = 0.033) and 35% (95%CI:1.06-1.72; p = 0.016) and 5% (OR = 1.05; 95%CI:1.01-1.10; p = 0.013) for those with elevated gamma-glutamyl transferase (GGT) and alkaline phosphatase (ALP). Conclusion: A considerable proportion of patients showed incomplete biochemical response to UDCA treatment according to Paris II criteria. Cirrhosis, elevated GGT and ALP at diagnosis were identified as associated risk factors for incomplete response. Early identification of patients at risk of incomplete response could improve treatment care and guide clinical decision to a more careful patient monitorization.