Browsing by Author "Lopes, Susana"
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- Congenital candidiasis – a diagnostic challengePublication . Rolim, Sara; Figueirinha, Joana; Miguel, Cristina; Lopes, Susana; Rocha, Felisbela; Martins, Cecília; Carvalho, SóniaIntroduction: Congenital candidiasis is a rare intrauterine infection characterized by vesicular and pustular skin lesions appearing in the first six days of life. Clinical case: The authors describe the case of a full-term infant presenting erythematous macules, vesicles and pustules involving the trunk and extremities and cervical burn-like dermatitis at birth. Mycological skin lesion culture was positive for Candida albicans. Blood culture was positive for methicillin-sensitive Staphylococcus aureus. After systemic antifungal and antibiotic therapy was started, the newborn remained asymptomatic with lesion improvement. Discussion/ Conclusion: Herein is reported a case of congenital candidiasis in a full-term infant, with a successful recovery. The rarity of congenital candidiasis can lead to delayed diagnosis and unnecessary treatment. This case shows that fungal infection should be considered in the differential diagnosis of vesiculopustular skin lesions in neonates. Systemic therapy should be initiated if invasive candidiasis is suspected.
- Diz-me como dormes: hábitos e problemas de sono em crianças portuguesas em idade pré-escolar e escolarPublication . Lopes, Susana; Almeida, Filipa; Jacob, Sylvia; Figueiredo, Margarida; Vieira, Clara; Carvalho, FernandaIntrodução:A avaliação dos problemas de sono é crucial na clínica diária, devido aos potenciais problemas orgânicos e comportamentais a eles associados. Objetivos:Avaliar os hábitos e problemas de sono em crianças em idade pré-escolar e escolar e comparar os resultados com outros estudos. Material e métodos:Aplicação da versão portuguesa do Children’s Sleep Habits Questionnaire (CSHQ-PT) aos pais de crianças frequentadoras de infantários ou escolas primárias no concelho de Vila Nova de Famalicão. Resultados: Foram incluídas 107 crianças pré-escolares e 122 escolares (n=229), com idade média de 6,3 anos e 54.1% eram rapazes. A prevalência de crianças que partilhavam o quarto foi de 37.3%. A hora média de deitar foi 21h:41m e de levantar 7h:20m. A duração total média de sono foi 9,7 horas, sendo maior nos pré-escolares (p<0.001). A prevalência global de problemas de sono foi 75.7% e a pontuação média total no CSHQ-PT foi 47.05, maior nos pré-escolares (p=0.001). Os pré-escolares pontuaram mais alto nos items resistência na hora de deitar (p<0,001), início do sono (p=0.046) e despertares notur- nos (p<0.001). A resistência na hora de deitar e ansiedade rela- cionada com o sono foram maiores nos filhos únicos (p=0.003). A prevalência de enurese noturna foi 7,7%, sono agitado 52.7% e bruxismo 22.2%. Conclusão: As crianças incluídas tendem a adormecer mais tarde e dormir menos relativamente a outros estudos. Foi encontrada uma elevada prevalência de problemas de sono, principalmente em idade pré-escolar, realçando a necessidade de uma diferente abordagem deste tema na prática clínica do pediatra.
- Hemangioma infantil ulcerado – há alternativa ao propranolol?Publication . Lopes, Susana; Álvares, Sílvia; Leitão, José Banquart; Figueiredo, SaraIntrodução:Os hemangiomas infantis (HI) afetam cerca de 5% das crianças caucasianas, sendo a ulceração a sua principal complicação. Nos últimos anos, os beta-bloqueadores sistémicos ou tópicos surgiram como primeira linha no tratamento dos HI, sendo ainda controverso o uso do timolol tópico nos HI complicados. Caso clínico:Lactente de seis meses orientado para a consulta de Pediatria por lesão eritematosa ulcerada, dolorosa, localizada a nível da região lombar. A ecografia de partes moles confirmou o diagnóstico de tumefação hemangiomatosa (31x19x20mm) com extensão aos grupos musculares. Iniciado tratamento com timolol tópico 0.5% - gotas oftálmicas e após três meses de tratamento foi verificada cicatrização da região ulcerada do hemangioma, cujas dimensões permaneceram estáveis. Discussão/Conclusões: Os autores pretendem realçar o potencial uso de timolol nos HI ulcerados, como alternativa aos agentes sistémicos. No caso presente mostrou ser eficaz, não se tendo registado efeitos adversos.
- 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.
- Soluble human Suppression of Tumorigenicity 2 is associated with endoscopic activity in patients with moderate-to-severe ulcerative colitis treated with golimumabPublication . Magro, Fernando; Lopes, Susana; Silva, Marco; Coelho, Rosa; Portela, Francisco; Branquinho, Diogo; Correia, Luís; Fernandes, Samuel; Cravo, Marília; Caldeira, Paulo; Tavares de Sousa, Helena; Patita, Marta; Lago, Paula; Ramos, Jaime; Afonso, Joana; Redondo, Isabel; Machado, Patrícia; Philip, George; Lopes, Joanne; Carneiro, FátimaBackground: Suppressor of Tumorigenicity 2 (ST2) is an IL33 receptor detected in the mucosa and serum of ulcerative colitis (UC) patients. We evaluated soluble ST2 (sST2) as a surrogate biomarker of disease outcome and therapeutic response, in moderate-to-severe UC patients treated with golimumab. Methods: We conducted an open-label single-arm multicentre prospective study. At screening/baseline, week 6 (W6) and week 16 (W16), clinical and endoscopic activity (total Mayo score), histologic activity (Geboes index) and biomarkers were evaluated. Results: From 38 patients, 34 (89.5%) completed W6 and 29 (76.3%) completed W16. Mean age (±SD) was 34.6 ± 12.6 years; 55.9% were female. At W16, 62.1% achieved clinical response. Patients with endoscopic activity at W6 (n = 20) had higher baseline sST2 (median, 24.5 versus 18.7 ng/ml, p = 0.026) and no decrease from baseline (median change, 0.8 versus -2.7, p = 0.029). At W6, sST2 levels correlated with endoscopic activity (rs = 0.45, p = 0.007) but not with histological activity (rs = 0.25, p = 0.151). The best cut-offs for endoscopic activity were sST2 = 16.9 ng/ml (sensitivity = 85%; specificity = 71%) and faecal calprotectin (FC) = 353 μg/g (sensitivity = 90%, specificity = 67%). Patients with histological activity at W6 (n = 27) had higher baseline ST2 levels (median, 23.0 versus 13.7 ng/ml, p = 0.035). sST2 did not correlate with FC or serum C-reactive protein. FC levels correlated with histological activity and baseline FC were higher when Geboes ⩾3.1 at W6. Conclusions: sST2 may be a surrogate biomarker of UC activity and therapeutic response as it correlates with endoscopic and clinical activity at W6 of golimumab treatment, and subjects with endoscopic and histological activity at W6 had higher baseline ST2 levels.
- Wilson’s Disease: A Prevalence Study in a Portuguese PopulationPublication . Sousa, Bebiana; Magalhães, Pedro; Pinto, Alfredo; Trindade, Eunice; Silva, Ermelinda; Presa Ramos, José; Freitas, Sara; Lopes, Susana; Antunes, HenedinaIntroduction Wilson's disease (WD) is a rare and underdiagnosed genetic disorder caused by anomalous tissue copper deposition, and for which epidemiological studies, specifically in Portugal, are scarce. Objectives This study aimed to evaluate the prevalence and incidence of WD and provide a description of its main clinical and laboratory features. Methods A retrospective study was carried out, with a search between 1995 and 2015, of all patients with a minimum follow-up of three months and birth confirmed in the northern region of Portugal, with an estimated population of 3,689,682 inhabitants. Database collection was based on the Portuguese National Health Service's clinical coding system, relying on clinical data from 13 northern Portuguese hospitals, liver biopsy histology results, and hospital prescription records. Clinical and biochemical correlations were statistically assessed using chi-square, Mann-Whitney U, Friedman, and Wilcoxon tests. Results Over the 20-year period, a prevalence of 1:37.000 and an incidence of one per million person-year was found. A total of 94 patients were analyzed, with a slight male predominance (53%), the majority with the onset of clinical manifestations in pediatric age (56%), with a median age at diagnosis of 16.6 years (interquartile range of 12.3-20,.8 years). Most patients presented with predominant liver disease (54.8%), with more than a third with cirrhosis; mixed hepatic and neurological manifestations in 17.9%; and mainly neurological symptoms in 10.7% of the patients. Neurological impairment was strongly associated with delayed development of the manifestations of the disease (p = 0.001) and also a higher detection of Kayser-Fleischer rings (p < 0.001), present in 27.0% of the patients. Regarding therapy, penicillamine has been the most widely used, with adverse reactions reported in 24.8%. At six and 12 months after initiation of therapy, a significant decrease in liver enzymes was found (ALT: p = 0.002; AST: p = 0.002, respectively), but no significant reduction was observed in urinary copper excretion. Conclusion This was one of the first studies regarding WD prevalence in a Portuguese population, contributing to a better understanding of the epidemiology, diagnosis, and management of WD in the northern region of Portugal. WD should be considered in any individual with unexplained hepatic or neurological manifestations, and initial symptoms may manifest at an early age, even in children less than five years old. A high percentage of patients were identified in the early stages of the disease by asymptomatic elevation of transaminases. Following copper chelation therapy, cytolysis markers appear to be more sensitive indicators of treatment response.