Browsing by Author "Fonseca, M."
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- Alterações hepáticas em contexto de diabetes mellitus tipo I descompensadaPublication . Portugal, V.; Aguiar, A.; Vasconcelos, F.; Aroso, S.; Fonseca, M.Introdução: A Diabetes Mellitus (DM) tipo I é uma doença endócrina crónica de incidência crescente na idade pediátrica. A hepatomegalia induzida pelo glicogénio é uma complicação precoce, amplamente reconhecida mas raras vezes descrita na literatura. Casos Clínicos: Criança de seis anos, admitida no serviço de urgência com quadro clínico e analítico compatível com cetoacidose diabética (CAD). O segundo caso trata-se de uma adolescente de 14 anos internada por DM descompensada com episódios frequentes de hipoglicemias. Por último relata-se o caso de um adolescente de 17 anos internado por grande instabilidade dos valores glicémicos. Nos três casos, foi detectada hepatomegalia com elevação sérica das transaminases. A evolução foi favorável, com resolução do quadro em quatro semanas. Conclusão: A glicogenose hepática parece estar associada a uma correcção rápida da cetoacidose diabética, instabilidade glicémica e administração de grandes quantidades de insulina no contexto de uma ingestão alimentar abusiva. ABSTRACT Type I diabetes mellitus (DM) is a chronic endocrine metabolic disease with a increasing incidence in pediatrics. Some diabetic patients with poor metabolic control may develop hepatomegaly induced by glycogen accumulation in early period. The hepatic glycogenosis is a well recognized complication, which is rarely reported in literature. Cases report: We report a case of a six-year-old boy admitted in hospital with a diabetic ketoacidosis. The second case is a fourteen-year-old girl with diabetes referred to our hospital because of frequent hypoglycemic episodes. The last reported case refers to a seventeen-year-old teenager, who was admitted to hospital due to wide fluctuations in glucose levels. They all developed hepatomegaly and elevated serum transaminases. Full recovery was achieved within four weeks. Conclusion: Hepatic Glycogenosis can be associated with acute restoration from diabetic ketoacidosis and wide fluctuations in both glucose and insulin levels.
- Ataxia-telangiectasia - caso clínicoPublication . Veiga, E.; Fonseca, M.; Gaspar, M.; Caturra, L.RESUMO A ataxia-telengiectasia (AT) é uma doença genética, autossómica recessiva, causada pela mutação do gene ATM, localizado no cromosoma 11q22-23. O diagnóstico é essencialmente clínico, caracterizando-se por ataxia, apraxia oculomotora, telangiectasias óculo-cutâneas e uma imunodeficiência primária combinada. O prognóstico é reservado, sendo a causa de morte mais frequente a infecção, seguida de doença neoplásica. Pretendemos salientar o valor da hipótese de diagnóstico, que poderá ser baseada em características puramente clínicas, mas que poderá passar despercebida aos clínicos, sem experiência anterior neste tipo de patologia. Discute-se a importância do estabelecimento do diagnóstico o mais precocemente possível, numa patologia de evolução grave e progressiva, na qual será fundamental um rastreio precoce das possíveis complicações. Salienta- -se a possibilidade de diagnóstico prenatal. ABSTRAT Ataxia-telangiectasia (AT) is a autosomal recessive disorder, resulting from a mutation of the ataxia telangiectasia mutated (ATM) gene which is located in chromosome 11q22-23. The diagnosis is essentially clinical, characterized by gait ataxia, oculomotor apraxia, oculocutaneous telangiectasia and a combined primary immunodeficiency. Prognosis is reserved; infection is the most frequent cause of death, followed by neoplasic disease. This case illustrates the importance of a high degree of suspicious which can be based on clinical criteria to establish the diagnosis. The authors emphasize the importance of an early diagnosis in this disorder (that has a severe and progressive evolution) to allow the screening of possible complications and prenatal diagnosis.
- Diabetes mellitus tipo 1 e doenças associadasPublication . Fonseca, M.
- Dysgenetic male pseudohermaphroditismPublication . Proença, E.; Freitas, S.; Fonseca, M.; Figueiredo, S.; Rodrigues, C.Acta Med Port. 2001 Sep-Dec;14(5-6):511-4. [Dysgenetic male pseudohermaphroditism] [Article in Portuguese] Proença E, Freitas S, Fonseca M, Figueiredo S, Rodrigues C. Serviço de Cirurgia Pediátrica, Hospital Maria Pia, Porto. Abstract Dysgenetic male pseudohermaphroditism is the result of a defect of testis development that encompasses a large clinical heterogeneity. It is characterized by bilateral dysgenetic testis, absence of mullerian regression, ambiguous genitalia and/or stigmata of Turner's syndrome in the majority of the cases. Typically, these individuals have either a 46,XY or 45,X/46,XY karyotype. The authors present four cases of dysgenetic male psudohermaphroditism, with ages of diagnosis between 1 month and 17 years old. The first had a male phenotype with stigmata of Turner's syndrome and the others ambiguous genitalia. Two patients were 45,X/46,XY and 45X/47,XYY mosaics and the other two were 46,XY. Gonadal karyotyping showed mosaicism (45,X/46,XY) in all four cases. In the first case was programed orquidectomy; all the others assigned a male gender, with regular follow-up until the puberty. PMID: 11878163 [PubMed - indexed for MEDLINE]
- Massa eritematosa lingual: que etiologia?Publication . Santos, P.; Espada, F.; Neves, M.; Coutinho, P.; Bianchi, F.; Fonseca, M.A tiróide lingual é uma entidade clínica rara, que resulta da localização ectópica de tecido tiroideu por ausência de migração embrionária da glândula tiroideia do foramen caecum para a localização pré-traqueal final. Habitualmente assintomática, pode no entanto ser detectada no exame físico de rotina da orofaringe ou no contexto de infecção das vias aéreas superiores. Pode também manifestar-se por disfagia, dispneia, disfonia, tosse, hemorragia ou hipotiroidismo sintomático. Os autores apresentam o caso clínico de uma criança de 3 anos do sexo feminino, sem antecedentes patológicos relevantes que apresentava tosse irritativa com agravamento progressivo e acessos de tosse laríngea. Na observação da orofaringe foi visualizada uma massa eritematosa, localizada na linha média do terço posterior da língua. Os estudos realizados demonstraram tratar-se de tiróide lingual associada a hipotiroidismo compensado. Os autores salientam a necessidade de vigilância clínica e analítica desta situação pelo risco de aparecimento de sintomatologia respiratória ou digestiva grave e/ou descompensação do hipotiroidismo. A cirurgia com remoção da massa poderá ser uma opção terapêutica no caso de sintomatologia respiratória ou digestiva grave ou transformação maligna. ABSTRACT The lingual thyroid is a rare clinical entity, which results from the ectopic location of thyroid gland tissue due to the absence of embryonic migration of the thyroid gland from the foramen caecum to the final pretracheal position. Usually asymptomatic, it can be detected during routine oral examination or in the context of infection of the upper airways. It can also present as dysphagia, dyspnea, dysphonia, cough, hemorrhage or hypothyroidism. The authors present the clinical case of a three-year old girl, without pathological relevant past medical history, who had a progressive irritating cough and accesses of laryngeal cough. In the oral cavity, an erythematous mass was visualized; it was located in the middle line of the subsequent third of the tongue. The subsequent studies demonstrated a lingual thyroid associated with an analytical compensated hypothyroidism. The authors point out the need of a clinical and analytical vigilance of this situation because of the risk of appearance of respiratory or digestive serious symptoms and/or hypothyroidism. The surgery with removal of the mass is a therapeutic option in the case of respiratory or digestive serious symptoms or malignant transformation.
- [Readmission to an Adolescent Psychiatry Inpatient Unit: Readmission Rates and Risk Factors]Publication . Mendes, P.; Fonseca, M.; Aguiar, I.; Pangaio, N.; Confraria, L.; Queirós, O.; Saraiva, J.; Monteiro, P.; Guerra, J.INTRODUCTION: Most mental disorders have a chronic evolution and therefore a certain amount of psychiatric readmissions are inevitable. Several studies indicate that over 25% of child and adolescent inpatients were readmitted within one year of discharge. Several risk factors for psychiatric readmissions have been reported in the literature, but the history of repeated readmissions is the most consistent risk factor. Our aim is to calculate the readmission rates at 30 days and 12 months after discharge and to identify associated risk factors. MATERIAL AND METHODS: The authors consulted the clinical files of patients admitted to the Inpatient Unit between 2010 and 2013, in order to calculate the readmission rates at 30 days and at 12 months. The demographic and clinical characteristics of the readmitted patients were analyzed and compared with a second group of patients with no hospital readmissions, in order to investigate possible predictors of readmission. RESULTS: A total of 445 patients were admitted to our inpatient unit between 2010 and 2013. Six adolescents were readmitted in a 30 days period (1.3%) and 52 were readmitted in a 12 month period after discharge (11.5%). Duration of the hospitalization and the previous number of mental health admissions were significant predictors of future hospital readmissions (p = 0.04 and p = 0.014). DISCUSSION: The low readmission rates may reflect the positive clinical and sociofamilial support being provided after discharge. CONCLUSION: Rehospitalisation is considered a fundamental target for intervention concerning prevention and intervention in mental healthcare. Thus, knowledge regarding their minimisation is crucial.