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- 0 papel do LBA na identificação de Pneumonia a Pneumocystis cariniiPublication . Pardal, C; Rosa, P; Fernandes, L; Longo, C; Sustelo, Arminda
- 10 anos de experiência no tratamento de retinoblastomaPublication . Santos, C; Coutinho, I; Azevedo, AR; Constantino, C; Sousa, AB; Pereira, F; Laranjeira, J; Cabral, J; Teixeira, SObjectivo: Descrever a experiência do Serviço de Oftalmologia do Hospital Prof. Doutor Fernando Fonseca no diagnóstico e tratamento de retinoblastoma entre Janeiro de 2004 e Dezembro de 2014. Métodos: Revisão retrospectiva dos processos clínicos e exames complementares de diagnóstico. Resultados: Foram tratados dezasseis doentes no período em estudo, sendo cinco casos bilaterais . O diagnóstico foi estabelecido em média aos 27 meses de idade e a forma de apresentação mais frequente foi leucocória. Dois casos apresentavam história familiar . O tempo médio de seguimento foi de 51,6 meses. Um dos doentes desenvolveu um pineoblastoma, tendo acabado por falecer do complicações relacionadas com a quimioterapia sistémica. De entre as 16 crianças, 11 realizaram quimioterapia sistémica. Nove olhos foram submetidos a enucleação, dois deles após falência da terapêutica conservadora. Os restantes doze olhos foram sujeitos a tratamento conservador, cinco dos quais exclusivamente em Portugal, recorrendo a quimioterapia sistémica, crioterapia e fotocoagulação com LASER. Oito doentes (nove olhos) foram encaminhados para o Hôpital Ophthalmique Jules Gonin na Suiça, para complementar a terapêutica realizada. Conclusões: O tratamento do retinoblastoma tem evoluído nos últimos anos. As novas opções para tratamento local, mais eficazes e seguras, têm tornado possível cada vez mais preservar a vida, o órgão e a função. No entanto, para o sucesso terapêutico é fundamental o diagnóstico precoce.
- A 17-month-old child with an abdominal massPublication . João, P; Cabral, P; Penha, P; Rosado, E; França, I; Tavares, A
- 2D visualization and measurement of the fetal optic chiasm. Improving the counselling of antenatal diagnosis of agenesis of the septi pellucidi.Publication . Viñals, F; Ruiz, P; Correa, F; Pereira, PTo develop an objective method to visualize and measure the optic chiasm (OC) through a 2D coronal vaginal plane and to report measurements in fetuses with agenesis of the septi pellucidi (SP). METHODS: This was a prospective cross-sectional study of 115 morphologically normal fetuses in low-risk pregnancies, between 21 and 30 weeks' gestation. OC was measured in a coronal plane at the level of the third ventricle and was seen as a horizontally aligned dumbbell-shaped structure of moderate echogenicity. In addition, OC measurements from eight fetuses with agenesis of the SP and complete follow-up were compared to the reference range. RESULTS: OC measurements were obtained in 110 of 115 normal fetuses. OC growth occurred linearly with gestational age. Our method demonstrated good intraobserver repeatability and excellent interobserver reproducibility. Among the eight fetuses with agenesis of the SP, four had normal measurements, and five normal vision postnatally. Pregnancy continued to term in all cases and the follow-up period varied from six months to seven years. CONCLUSION: Our study demonstrates that it is possible to visualize and measure the OC directly through a 2D ultrasound coronal plane. In fetuses with agenesis of the SP, the morphology and width of the OC visual pathway could prove a relevant tool in assessing its development. It would also provide support to the difficult antenatal counselling when faced with the diagnosis of agenesis of the SP.
- A 3-month-old baby with H1N1 and Guillain-Barré syndromePublication . Vasconcelos, A; Abecasis, F; Monteiro, R; Camilo, C; Vieira, M; Carvalho, M; Correia, MMajority of children with pandemic influenza A (H1N1)pdm09 experience mild illness with full recovery without treatment. A previously healthy two and a half month-old girl was admitted to our paediatric intensive care unit because of severe respiratory failure with A (H1N1)pdm09 infection. Despite initial clinical improvement all attempts to extubate to non-invasive ventilation were unsuccessful and 2 to 3 weeks after symptom onset she started periods of cardiovascular instability and a progressive neurological deterioration with distal symmetrical progressive motor weakness and areflexia. All investigations were normal except elevated liver enzymes and cerebrospinal fluid examination that revealed elevated protein without pleocytosis. A possible diagnosis of Guillain-Barré syndrome (GBS) was considered and electromyogram was compatible with axonal form of GBS. To our knowledge this is the youngest case of GBS acquired postnatally and the first in children associated with H1N1 virus.
- 48,XXYY in a general adult psychiatry departmentPublication . Santos, NB; Trancas, B; Pinto, P; Lopes, B; Gamito, A; Almeida, S; Ferreira, B; Luengo, A; Vieira, C; Martinho, J; Pereira, B; Cardoso, GThe 48,XXYY syndrome is a distinct clinical and genetic entity, with an incidence of 1:17,000 to 1:50,000 newborns. Patients often access mental healthcare services due to behavior problems, such as aggressiveness and impulsiveness, and are frequently intellectually disabled. We report a case of a patient with 48,XXYY syndrome treated in a general adult psychiatry department. A 23-year-old man was frequently admitted to our inpatient psychiatric unit (14 admissions in five years) due to disruptive behavior, including self harm, aggression to objects and animals, and fire-setting behavior, in a context of dysphoric mood and marked impulsivity. Upon observation, the patient had mild intellectual disability, with prominent impulsive and aggressive features and very low tolerance to frustration. His physical examination revealed hypertelorism, increased thickness of neck, acne, sparse body hair, triangular pubic hair distribution, fifth digit clinodactyly, small testicles and penis, and gynecoid pelvis. Laboratory analysis revealed endocrine abnormalities (low plasma testosterone and subclinical hypothyroidism). Cardiac Doppler sonogram was normal. Electroencephalogram revealed only a diffuse slowing electrogenesis, with no etiological specificity. Clinical suspicion of a chromosomal disorder was confirmed by a 48,XXYY karyotype. Subsequent magnetic resonance imaging detected discrete bilateral reduction of the hippocampal formations, possibly related to temporal dysgenesia. Psychopharmacological treatment options met moderate success, with lack of adherence. Other psychosocial treatment interventions ensued, including family therapy and psychoeducation. We underscore the need to be alert for chromosomal disorders, even in a general adult psychiatry department, as a minority of patients may reach adult care without proper diagnosis.
- Abcessos faríngeosPublication . Ferreira, M; Brito, MJ; Machado, MC
- Abcessos hepáticos piogénicos: a perspectiva do radiologista de intervençãoPublication . Pinto, E; Sousa, M; Costa, AO abcesso hepático piogénico é uma entidade pouco frequente embora fatal quando não tratada. Historicamente estes abcessos estavam relacionados com infecções intra-abdominais mas a evolução da antibioterapia tornou a patologia hepatobiliar, nomeadamente as neoplasias malignas, no grupo mais prevalente. As neoplasias hepáticas são simultaneamente um factor de risco e de mau prognóstico nestes casos e, ao contrário da população em geral, são mais frequentemente primárias que secundárias. A sua exclusão clínica é obrigatória. Cerca de metade dos casos são criptogénicos, apesar de associados a infecção monomicrobiana a K.pneumoniae, a diabetes mellitus ou a patologia subclínica do cólon, incluindo carcinoma. Alguns autores recomendam, por este facto, a colonoscopia, por rotina, a doentes com abcessos hepáticos piogénicos de repetição. Os agentes patogénicos mais frequentes em todo o mundo são a E. coli, Enterococcus e Streptococcus, sendo frequentemente polimicrobiana em doentes oncológicos. A infecção por K pneumoniae é a mais prevalente na Ásia e tem vindo a aumentar nas populações ocidentais. Isto é importante porque apesar de abcessos hepáticos associados a K.pneumoniae terem, em geral, um curso mais indolente, apresentam risco de infecção metastática, com elevada taxa de mortalidade, e resistência intrínseca à ampicilina. Não existem características patognomónicas que permitam a distinção entre agentes, mas o aspecto imagiologicamente imaturo da coleção é característico de K.pneumoniae. No âmbito da abordagem multidisciplinar, o radiologista de intervenção tem um papel central no diagnóstico, confirmação microbiológica e tratamento destes casos, evitando intervenções cirúrgicas com maior morbilidade. A avaliação imagiológica permite ainda identificar casos com baixa probabilidade de sucesso por abordagem percutânea e que deverão ser operados precocemente. Propomos uma revisão sistemática da literatura científica demonstrando o atual estado da arte e melhores práticas nestes doentes.
- Abdominal tuberculosis: an old disease surprising young doctors.Publication . Sousa, M; Batista, J; Pacheco, P; Nunes, VTuberculosis remains a worldwide public health concern. Atypical extrapulmonary presentations may delay the diagnosis and treatment. We present the case of an adult woman admitted to the emergency department with bowel obstruction. The putative intraoperative diagnostic hypothesis was ovarian cancer with peritoneal dissemination. Histopathological analysis showed a chronic granulomatous inflammatory disease with acid-fast bacilli. The patient was started on an alternative parenteral antituberculosis drug combination until oral feeding was available. Currently, 5 months after surgery, she is asymptomatic. Abdominal tuberculosis is the most frequent extrapulmonary site with a wide range of clinical presentations. Emergency laparotomy may be necessary in patients who present with acute abdomen. Bowel obstruction due to adhesions and strictures is not infrequent. However, tuberculous abdominal cocoon presentation as in our patient is rare. Treatment with parenteral alternative drug regimens for tuberculosis is mandatory until the oral route is available.