Browsing by Author "Gomes, S"
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- Alterações Vasculares Precoces na Infeção por VIH em Idade Pediátrica.Publication . Gomes, S; Oom Costa, P; Milheiro Silva, T; Soares, E; Neves, C; Candeias, FIntrodução: Os doentes pediátricos infetados pelo VIH são hoje adolescentes e jovens adultos. Atendendo ao risco cardiovascular associado à infeção VIH e à terapêutica da mesma, são um grupo com risco acrescido para doença cardiovascular precoce, com alterações estruturais precoces do leito vascular arterial e fatores de risco pró-trombóticos. Objetivos: Avaliar o impacto da infeção VIH nos marcadores de doença cardiovascular precoce. Material e métodos: Estudo prospectivo, de Março a 2015 e Outubro de 2018 (44 meses), em doentes com idade igual ou superior a 12 anos, infetados pelo VIH e seguidos num hospital de nível III. Avaliaram-se parâmetros demográficos, clínicos, laboratoriais e ecográficos (consideraram-se alterados índices >0,5 para idades inferiores a 18 anos e >0,8 para idades superiores a 18 anos). Resultados: Total de 22 doentes, com mediana de idade de 15 anos (mín-12, max-23), 59% do sexo masculino e 68% melanodérmicas. Na maioria dos casos (86%), a transmissão ocorreu por via vertical. Todos estavam sob terapêutica antirretroviral desde o diagnóstico com inibidores de protease, 81,8% tinham carga viral indetetável, 86% apresentavam CD4+ ≥500cél/uL e nenhum CD4+ <200cél/uL. Em um doente havia hábitos tabágicos. Verificou-se IMC com P≥85 em seis doentes (IMC≥40 n=3) e pré-hipertensão em seis e hipertensão grau I em um. O estudo do perfil lipídico revelou colesterol total elevado em 10 (P75-95 n=7; P95 n=3), colesterol-LDL em 7 (P75-95 n=4; P95 n=3), colesterol-HDL P<25 em 11 e triglicerídeos P≥95 em 5 doentes. Nenhum tinha glicémia em jejum alterada. Do estudo ecográfico da espessura da íntima-média carotídea, registaram–se alterações (≥P75 para idade e sexo) em ?/? abaixo dos 18 anos de idade e ?/? acima dos 18 anos. Conclusão. Compreender e intervir nos mecanismos subjacentes que determinam um aumento do risco cardiovascular, através de uma abordagem multidisciplinar, é fundamental para modificar o fenótipo vascular destes doentes.
- Cerebrospinal Fluid Hypotension Following Fall in a Child: Case ReportPublication . Botelho, G; Grilo, RD; Almeida, VD; Romão, P; Gomes, S; Sagarribay, ACSF hypotension arises in the context of a leak of CSF which causes negative intracranial pressure. Sacral fractures result from high-energy trauma which are frequently underdiagnosed. A ten-year-old boy presented with hip pain, after a fall. He mobilized both lower limbs, reported no leg pain, irradiation nor lack of sphincter control. The neurological examination was normal. When asked to stand, he began biparietal headache, nausea and vomiting, which improved laying down. CT scan showed an occult intrasacral meningocele; the MRI revealed collections of CSF along the spine, a S3 fracture with potential laceration of the meningocele and opening of a CSF fistula. Our diagnosis was the CSF hypotension, secondary to the fistula opening. The diagnosis was challenging. The child first presented with symptoms of CSF hypotension without evident cause. The discovery of the meningocele led us to hypothesize the opening of a fistula, a rare diagnosis, later confirmed by MRI.
- Influenza B-Associated Atypical Hemolytic Uremic SyndromePublication . Mano, L; Rocha, S; Maio, P; Francisco, T; Pereira, G; Gomes, S; Santos, R; Serrão, AP; Abranches, MIntroduction: Influenza A infections have been described to cause secondary hemolytic uremic syndrome and to trigger atypical hemolytic uremic syndrome (aHUS) in individuals with an underlying genetic complement dysregulation. To date, Influenza B has only been reported to trigger aHUS in 2 patients. In 61% of aHUS cases, mutations are found in H, B and I factors, membrane cofactor protein (MCP), C3 and thrombomodulin. MCP (CD46) mutations account for 10-15% of cases. Clinical Case: A 13-year-old boy was transferred to a terciary pediatric centre with acute renal lesion in the context of HUS. Evidence was found for Influenza B infection and results for other etiologic agents were negative. He was treated with Oseltamivir for 5 days. Etiologic study revealed decreased C ́3 (0,81 g/L), normal C ́4 (0,27 g/L) and all antibodies were negative: anti-Beta2 GP1 IgG / IgM, anti-cardiolipine IgG / IgM, anti-neutrophil-citoplasm-PR3 and MPO. Alternate complement pathway study (AH 50) were 112 % of normal value (reference value >70%) and ADAMTS 13 activity were 0.79 (values above 0.67 may be found in aSHU as well as other microangiopathic trombopathies). Molecular study of complement including 11 genes (CFH, CD46 (MCP), CFI, C3, THBD, CFB,CFHR5, CFHR1 CFHR3, CFHR4, DGKE) found a pathogenic heterozygotic missense variant on CD46 (MCP) gene, c.554A>G, p.Asp185Gly, associated with aHUS. Conclusions: aHUS patients should be screened for all known disease-associated genes. Screening should not be stopped after finding a mutation to avoid missing other genetic susceptibility factors influencing disease phenotype, particularly in patients with MCP or CFI mutations, because they have a higher probability of also carrying mutation in another gene than patients with CFHor C3 mutations. Influenza B is a trigger for aHUS and might be underreported as such. Influenza vaccination may protect patients at risk.
- Prescrição de Benzodiazepinas e Outros Sedativos na Administração Regional de Saúde de Lisboa e Vale do Tejo de 2013 a 2020: um Estudo RetrospetivoPublication . Gomes, S; Broeiro-Gonçalves, P; Meireles, C; Caldeira, D; Costa, J; Guerreiro, M; Ribeiro, N; Afonso, RIntroduction: Among the Organization for Economic Co-operation and Development members, Portugal has the highest reported consumption of anxiolytics, hypnotics, and sedatives, of which a large proportion are benzodiazepines or related drugs. These are known to cause tolerance and dependence. Other drugs with hypnotic effect, such as antidepressants, antihistamines, antipsychotics, or anticonvulsants have been identified by some reports as alternatives to benzodiazepines for the treatment of insomnia. In this regard, the aim of this study was to characterize the consumption of benzodiazepines, non-benzodiazepine anxiolytic, hypnotic or sedative effect drugs and other drugs with the potential to be used off-label to treat insomnia, and the results concerning benzodiazepine consumption related indicators in the primary health care setting in the Lisbon and Tagus Valley region. Material and methods: From 2013 to 2020, a census, descriptive and retrospective study was conducted. The evolution of the variables total defined daily doses, defined daily doses per 1000 inhabitants per day (DHD) and relevant indicators were characterized. Data were extracted from the SIARS platform used in the Lisbon and Tagus Valley regional Health Administration. Results: There was a decrease in the consumption of benzodiazepines (from 57.44 to 63.11 DHD) and an increase of non-benzodiazepines and of drugs with potential off-label use (from 6.56 to 8.56 DHD and from 14.70 to 25.95 DHD, respectively). Among non-benzodiazepines, zolpidem was the most consumed drug, also showing an increasing trend (from 4.86 to 6.96 DHD). For the group of drugs with off-label use potential, there was an increased consumption of trazodone (from 3.81 to 7.92 DHD), mirtazapine (from 3.52 to 6.48 DHD), pregabalin (from 3.15 to 4.87 DHD), quetiapine (from 2.68 to 4.59 DHD) and gabapentin (from 1.32 to 1.90 DHD), which was only the case (or, at least, more significantly) for the lower dose formulations. The median of results of the Primary Health Care setting indicator "proportion of elderly patients without prescription of sedatives, anxiolytics, and hypnotics", was 81.0 in 2015 and increased to 84.9 in 2020. For the indicator "proportion of patients without prolonged prescription of sedatives, anxiolytics, and hypnotics", the median was 93.6 in 2019 and 94.3 in 2020. Conclusion: There was, overall, a decreasing trend in the dispensing of benzodiazepines in the Lisbon and Tagus Valley Region. Even though this data suggests a change in the therapeutic pattern for insomnia, more robust studies are needed to confirm this observation.
- A Prevenção Primária da Alergia Alimentar é Possível? – Caso ClínicoPublication . Pinheiro, A; Gomes, S; Paiva, M; Gaspar, AA alergia alimentar tem expressão e gravidade crescentes em idade pediátrica. Estando documentada maior incidência familiar, têm sido tentadas medidas de prevenção primária, cuja efi cácia permanece controversa. Descreve-se o caso de uma criança de alto risco que fez prevenção primária de alergia alimentar. Apresentou, no entanto, desde os 2 meses, eczema atópico e, aos 12 meses, reacção anafiláctica após ingestão acidental de peixe. Testes cutâneos por picada e IgE específicas positivos para diversos peixes e ovo. Apesar da evicção prescrita, aos 22 meses ocorreu nova reacção anafiláctica, no infantário, após inalação de vapores de peixe e, aos 42 meses, vómitos após ingestão acidental de alimento contendo ovo. A prevenção primária da alergia ao leite de vaca foi eficaz. Este caso salienta a complexidade da abordagem preventiva da alergia alimentar e destaca a necessidade do envolvimento da família e da escola na prevenção e na actuação rápida e eficaz na anafilaxia alimentar.
- Prospective Study of Loss of Health-Related Quality Adjusted Life Years in Children and their Families due to Uncomplicated and Hospitalised VaricellaPublication . Rodrigues, F; Marlow, R; Gouveia, C; Correia, P; Brett, A; Silva, C; Gameiro, I; Rua, I; Dias, J; Martins, M; Diogo, R; Lopes, T; Hipólito, E; Moreira, D; Costa Alves, M; Prata, F; Labrusco, M; Gomes, S; Fernandes, A; Andrade, A; Granjo Morais, C; João Virtuoso, M; Manuel Zarcos, M; Teresa Raposo, A; Boon, A; Finn, AIntroduction and aims: Although usually benign, varicella can lead to serious complications and sometimes long-term sequelae. Vaccines are safe and effective but not yet included in immunisation programmes in many countries. We aimed to quantify the impact on health-related quality of life (HRQoL) in terms of quality-adjusted life years (QALY) in children with varicella and their families, key to assessing cost-utility in countries with low mortality due to this infection. Methods: Children with varicella in the community and admitted to hospitals in Portugal were included over 18 months from January 2019. Children's and carers' HRQoL losses were assessed prospectively using standard multi-attribute utility instruments for measuring HRQoL (EQ-5D and CHU9D), from presentation to recovery, allowing the calculation of QALYs. Results: Among 109 families with children with varicella recruited from attendees at a pediatric emergency service (community arm), the mean HRQoL loss/child was 2.0 days (95 % CI 1.9-2.2, n = 101) (mean 5.4 QALYs/1000 children (95 % CI 5.3-6.1) and 1.3 days/primary carer (95 % CI 1.2-1.6, n = 103) (mean 3.6 QALYs /1000 carers (95 % CI 3.4-4.4). Among 114 families with children admitted to hospital because of severe varicella or a complication (hospital arm), the mean HRQoL loss/child was 9.8 days (95 % CI 9.4-10.6, n = 114) (mean 26.8 QALYs /1000 children (95 % CI 25.8-29.0) and 8.5 days/primary carer (95 % CI 7.4-9.6, n = 114) (mean 23.4 QALYs/1000 carers (95 % CI 20.3-26.2). Mean QALY losses/1000 patients were particularly high for bone and joint infections [67.5 (95 % CI 43.9-97.6)]. Estimates for children's QALYs lost using the CHU9D tool were well correlated with those obtained using EQ-5D, but substantially lower. Conclusions: The impact of varicella on HRQoL is substantial. We report the first measurements of QALYs lost in hospitalised children and in the families of children both in the community and admitted to hospital, providing important information to guide vaccination policy recommendations.
- Síndrome de Guillain-Barré em Idade Pediátrica. Protocolo de ActuaçãoPublication . Sampaio, MJ; Figueiroa, S; Temudo, T; Gomes, S; Janeiro, P; Silva, RO protocolo de actuação na Síndrome de Guillain-Barré em idade pediátrica foi elaborado com o intuito de rever as mais recentes recomendações internacionais e de traçar linhas orientadoras de actuação. É constituído por duas partes: a primeira é a introdução teórica, resultante da revisão bibliográfica, e a segunda o Protocolo de actuação. Tratando-se de uma patologia para a qual ainda não existe um consenso, sobretudo no que respeita ao tratamento, optou-se por incluir as várias opções de tratamento recomendadas, permitindo a cada Unidade aplicar aquela com a qual possui mais experiência.