Browsing by Author "Barbosa, T."
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- Adenopatia supraclavicular no lactente: um desafio diagnósticoPublication . Silva, H.; Barbosa, T.; Costa, E.; Morais, L.; Ramos, A.RESUMO Introdução: As adenopatias na criança são um motivo frequente de consulta e representam um desafio diagnóstico. O diagnóstico diferencial inclui principalmente a patologia infecciosa, a congénita e a neoplásica. Caso Clínico: Descrevemos o caso de um lactente de sete meses de idade com uma adenopatia supraclavicular unilateral, indolor, com três meses de evolução. O estudo analítico não demonstrou alterações e na radiografia pulmonar observou-se um infiltrado hilar bilateral. A prova tuberculínica foi positiva com uma induração de 20mm. O exame anatomo-patológico evidenciou alterações compatíveis com linfadenite tuberculosa. Conclusão: Salientamos que a tuberculose deverá ser incluída no diagnóstico diferencial de uma adenopatia supra-clavicular, especialmente nos países de alta prevalência.
- Caso radiológico: Lobo da Veia ÁzigosPublication . Freitas, A.C.; Barbosa, T.; Macedo, F.We present a case of a 6-year-old child in whom a chest x-ray is performed for a respiratory infection. An inverted comma opacity was seen in the right upper lobe, typical of an azygos fissure. This is one of the numerous anatomic variants of the azygos vein.
- Clinical and Genetic Analysis of Children with Kartagener SyndromePublication . Pereira, R.; Barbosa, T.; Gales, L.; Oliveira, E.; Santos, R.; Oliveira, J.; Sousa, M.Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia causing ineffective mucus clearance and organ laterality defects. In this study, two unrelated Portuguese children with strong PCD suspicion underwent extensive clinical and genetic assessments by whole-exome sequencing (WES), as well as ultrastructural analysis of cilia by transmission electron microscopy (TEM) to identify their genetic etiology. These analyses confirmed the diagnostic of Kartagener syndrome (KS) (PCD with situs inversus). Patient-1 showed a predominance of the absence of the inner dynein arms with two disease-causing variants in the CCDC40 gene. Patient-2 showed the absence of both dynein arms and WES disclosed two novel high impact variants in the DNAH5 gene and two missense variants in the DNAH7 gene, all possibly deleterious. Moreover, in Patient-2, functional data revealed a reduction of gene expression and protein mislocalization in both genes' products. Our work calls the researcher's attention to the complexity of the PCD and to the possibility of gene interactions modelling the PCD phenotype. Further, it is demonstrated that even for well-known PCD genes, novel pathogenic variants could have importance for a PCD/KS diagnosis, reinforcing the difficulty of providing genetic counselling and prenatal diagnosis to families.
- Early Debridement, antibiotics and implant retention (DAIR) in patients with suspected acute infection after hip or knee arthroplasty - safe, effective and without negative functional impactPublication . Barros, L.; Barbosa, T.; Esteves, J.; Abreu, Mi.; Soares, D.; Sousa, RicardoIntroduction: Debridement, antibiotics and implant retention (DAIR) is known to be effective in treating acute periprosthetic joint infection (PJI). However, deciding to perform additional surgery in the early postoperative period may be challenging as there is the concern of adding morbidity and clinical presentation is often subtle. We mean to assess the impact of early DAIR on final functional outcome. Methods: A case-control comparison was performed between patients that underwent DAIR for suspected PJI between 2010-2016 and controls randomly selected (1:2 ratio) from a list of primary joint replacements. Patients were matched for anatomic site, age, gender, American Society of Anesthesiologists (ASA) classification, body mass index and follow-up time. The outcome of surgical treatment and complications were assessed and Hip disability and Osteoarthritis Outcome Score (HOOS) or Knee injury and Osteoarthritis Outcome Score (KOOS) were performed. Results: Thirty-eight cases were included at a mean follow-up of 42 months. Infection was not confirmed in one patient. There was one infection related-death and three other cases of treatment failure that required a two-stage revision. Overall success rate was 89.2%. There were no significant patient reported differences regarding final functional outcome between both groups: pain 91±6 vs. 87±13; other symptoms 90±8 vs. 90±9; activities of day living 86±8 vs. 85±14; sport 63±13 vs. 57±16; quality of life 78±17 vs. 76±16. Discussion: These findings support that DAIR for suspected acute PJI is safe, effective and causes no impact on final functional results. Thus, a low threshold for assuming infection and subsequent DAIR may safely be adopted in the early postoperative period.
- Encefalomielite aguda disseminada - evolução atípicaPublication . Silva, G.; Guimarães, T.; Barbosa, T.; Morais, L.; Marcelino, F.; Carrilho, I.; Amorim, R.; Senra, V.A encefalomielite aguda disseminada (EMAD) é uma doença desmielinizante aguda monofásica do sistema nervoso central (SNC), cuja maior incidência é observada em idade pediátrica. A clínica é variável incluindo sintomatologia sistémica e neurológica. Os autores relatam o caso clínico de um jovem de onze anos de idade com alteração do estado de consciência, tetraplegia de instalação aguda e progressão ascendente associada a diminuição da acuidade visual e retenção urinária, que se desenvolveu após fase prodrómica. A ressonância magnética (RMN) cerebral e medular revelou áreas de hipersinal disseminadas. Os estudos laboratoriais não permitiram o diagnóstico etiológico. Efectuou tratamento com corticóides e imunoglobulina intravenosa (IGIV) e necessitou de abordagem multidisciplinar. Verificou-se recuperação de défices motores e da capacidade de esvaziamento vesical, mas persistência de atrofia óptica. A RMN cerebral realizada no seguimento revelou apenas atrofia óptica, sem outras alterações. ABSTRACT Acute disseminated encephalomyelitis (ADEM) is an acute monophasic demyelinating disease of the central nervous system (CNS). The highest incidence occurs in childhood. Clinical presentation includes systemic and neurological symptoms. The authors report the case of a eleven year old boy who presented a combination of altered state of consciousness, acute ascendant tetraplegy, lowering of visual capacity e urinary retention, after a prodromal phase. Cerebral and medullar magnetic resonance imaging (MRI) showed high signal disseminated areas. Laboratorial tests couldn’t establish an etiology. The treatment included corticosteroids and intravenous immunoglobulin and need for multidisciplinary team support. The patient recovered from motor deficits and became able to urinate, however optic atrophy persisted. Follow-up brain MRI during the following showed only optic atrophy.
- Eritema Induratum de Bazin a propósito de caso clínicoPublication . Barbosa, T.; Ramos, A.; Senra, V.; Caspurro, S.; Rosário, C.; Taveira, M.RESUMO Os autores apresentam um caso clínico de uma entidade rara em idade pediátrica, eritema induratum de Bazin, acerca da qual ainda existe muita indefi nição e controvérsia. Trata-se de uma patologia que pertence a um dos tipos de tuberculose cutânea e que se caracteriza essencialmente por lesões nodulares persistentes ou recorrentes, atingindo preferencialmente a face posterior das pernas de indivíduos do sexo feminino, com desaparecimento após terapêutica anti-tuberculosa. O caso clínico refere-se a uma criança de 7 anos com lesões cutâneas nodulares crónicas, sem melhoria após terapêutica tópica e sistémica (antibióticos, anti-infl amatórios, corticóides). Contacto prévio com familiar com tuberculose pulmonar activa. Desaparecimento após terapêutica específi ca para a tuberculose. ABSTRAT The authors present a case of a rare entity, Bazin’s erithema induratum, which is still subject of controversy and discussion. This disease is one type of cutaneous tuberculosis, clinically with recurrent or persistent nodules that occur mainly on the calves of young women, with lesions remission after anti-tuberculous therapy. The case is related to a 7 years old child with cronic indurated cutaneous lesions, without response to topical and sistemic therapy (antibiotics, anti-infl ammatory, corticosteroids). Previous contact with familiar with active pulmonar tuberculosis. Clinical improvement after introduction of anti-tuberculous therapy.
- Infantile myofibromatosis - a clinical and pathological diagnostic challengePublication . Mota, F.; Machado, S.; Moreno, F.; Barbosa, T.; Selores, M.Infantile myofibromatosis is a rare disorder of fibroblastic/myofibroblastic proliferation and represents the most frequent type of mesenchymal tumor in the neonatal period and primary infancy.Three clinical types have been described: solitary, multicentric, and generalized (with visceral involvement). A correct characterization of the histopathology is essential to diagnose these neoplasias in early infancy. We present a case of multicentric infantile myofibromatosis with regression over time.
- Insuficiência Respiratória Fatal em Recém-NascidoPublication . Costa, E.; Barbosa, T.; Marcelino, F.; Carvalho, C.; Moreira, H.; Lima, R.; Duarte, C.; Rocha, H.RESUMO A tosse convulsa continua a ser uma doença potencialmente fatal, particularmente em grupos vulneráveis, apesar da ampla cobertura vacinal em crianças. Os autores apresentam um caso dum RN do sexo feminino que iniciou acessos de tosse coqueluchóide e apneias, em contexto familiar de síndroma gripal. Após melhoria com as medidas terapêuticas iniciais, o quadro progrediu para pneumonia com insuficiência respiratória grave, ARDS e sépsis com falência multiorgânica. O exame necrópsico concluiu tratar- se de uma bronquiolite e pneumonia necrosante bilateral por Bordetella pertussis. Em RN ou lactentes pequenos, a imunização ausente ou incompleta e o quadro clínico não típico, induzem dificuldades no diagnóstico que se reflete em maior morbilidade e mortalidade nesta faixa etária.
- Pneumonia aguda da comunidade de evolução complicadaPublication . Ramos, A.; Guerra, I.; Barbosa, T.; Silva, C.; Ferreira, C.; Reis, G.
- Pulmão e doença sistémica - Cardiopatia congénitaPublication . Barbosa, T.