Browsing by Author "Cardoso, R"
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- Autoimmune alternating hyper- and hypo-thyroidism: a rare condition in pediatricsPublication . Martins, LC; Coutinho, AR; Jerónimo, M; Caetano, JS; Cardoso, R; Dinis, I; Mirante, AAlternating between hyper- and hypo-thyroidism may be explained by the simultaneous presence of both types of TSH receptor autoantibodies (TRAbs) - thyroid stimulating autoantibodies (TSAbs) and TSH blocking autoantibodies (TBAbs). It is a very rare condition, particulary in the pediatric age. The clinical state of these patients is determined by the balance between TSAbs and TBAbs and can change over time. Many mechanisms may be involved in fluctuating thyroid function: hormonal supplementation, antithyroid drugs and levels of TSAbs and TBAbs. Frequent dose adjustments are needed in order to achieve euthyroidism. A definitive therapy may be necessary to avoid switches in thyroid function and frequent need of therapeutic changes. We describe an immune-mediated case of oscillating thyroid function in a 13-year-old adolescent. After a short period of levothyroxine treatment, the patient switched to a hyperthyroid state that was only controlled by adding an antithyroid drug. LEARNING POINTS: Autoimmune alternating hypo- and hyper-thyroidism is a highly uncommon condition in the pediatric age.It may be due to the simultaneous presence of both TSAbs and TBAbs, whose activity may be estimated in vitro through bioassays.The clinical state of these patients is determined by the balance between TSAbs and TBAbs and can change over time.The management of this condition is challenging, and three therapeutic options could be considered: I-131 ablation, thyroidectomy or pharmacological treatment (single or double therapy).Therapeutic decisions should be taken according to clinical manifestations and thyroid function tests, independent of the bioassays results.A definitive treatment might be considered due to the frequent switches in thyroid function and the need for close monitoring of pharmacological treatment. A definitive treatment might be considered due to the frequent switches in thyroid function and the need for close monitoring of pharmacological treatment.
- Cutaneous pseudallescheria boydii infection in a renal transplant patient: A case reportPublication . Cardoso, JC; Serra, D; Cardoso, R; Reis, JP; Tellechea, O; Figueiredo, AWe describe the case of a 59-year-old male renal transplant recipient who presented with a 1 month history of nodular, erythematous, and crusted lesions on the anterior surface of the left leg. There was no history of trauma. The patient had no systemic signs or symptoms. A skin biopsy revealed evidence of a deep fungal infection, with septate and branching hyphae amongst the dermal inflammatory infiltrate, but the culture was negative. Initial treatment with itraconazole proved ineffective and new lesions appeared. New tissue samples were obtained for culture, allowing the isolation of Pseudallescheria boydii. The patient underwent surgical excision of the lesions combined with voriconazole 400 mg/day for 2 months. After this period no new lesions appeared and the patient has remained without recurrence after 2 years of follow-up. Pseudallescheria boydii is an opportunistic fungus that can cause systemic infection mainly in immunocompromised patients that manifests as pulmonary, osteoarticular, ocular, vascular, cutaneous or central nervous system disease. Resistance to therapy can occur with infection progression and high mortality. Treatment with the combination of an antifungal agent, mainly voriconazole, and surgery, when feasible, probably provide the best results in cutaneous infections.
- Dermatite de contacto alérgica à Primula ObcónicaPublication . Cardoso, R; Gonçalo, Margarida; Figueiredo, A
- Hiperplasia congénita da supra-renal: quando o mesmo genótipo tem diferentes fenótiposPublication . Cordinhã, C; Morais, S; Cardoso, R; Ramos, L; Taborda, A; Mirante, A
- Livedoid vasculopathy and hypercoagulability in a patient with primary Sjögren's syndrome.Publication . Cardoso, R; Gonçalo, Margarida; Tellechea, O; Maia, R; Borges, C; Pereira da Silva, JA; Figueiredo, ABACKGROUND: A 31-year-old woman presented with a 5-year history of painful ulcerations, palpable purpura, porcelain-white atrophic scars of the malleolar region and dorsal aspect of the feet, livedo reticularis on the limbs, arthralgia, xerophthalmia, and xerostomia. METHODS: Skin biopsy revealed vessel wall hyalinization and thrombosis of the microvasculature with a very scarce dermal inflammatory infiltrate. Biopsy of the oral mucosa showed mononuclear infiltration of an intralobular duct of a salivary gland. RESULTS: Laboratory studies, including autoantibodies and inflammation markers, were normal, except for a positive rheumatoid factor. Coagulation screening revealed C677T methylenetetrahydrofolate reductase (MTHFR) mutation, with a normal serum homocysteine. The patient was treated with oral methylprednisolone (32 mg/day with progressive reduction) and enoxaparin (20 mg/day subcutaneously), with complete ulcer healing within 4 months. CONCLUSION: Livedoid vasculitis or vasculopathy has not been referred to previously in association with Sjögren's syndrome, but may be associated with other autoimmune disorders and anomalies of coagulation, namely factor V Leiden mutation, protein C deficiency, and MTHFR mutation, associated or not with hyperhomocysteinemia, a condition that seems to confer an increased risk of recurrent arterial and venous thrombosis. We stress the importance of anticoagulant therapy for ulcer healing and for the prevention of other thrombotic events.
- Median raphe cyst of the penisPublication . Cardoso, R; Freitas, JD; Reis, JP; Tellechea, OCysts of the median raphe are uncommon. We describe a 43-year-old man with an asymptomatic nodule on the glans penis. Excision of the lesion was performed followed by histological and immunohistochemical studies. Histopathological examination revealed a solitary unilocular cystic cavity in the corium, lined by a pseudostratified columnar epithelium, among which mucinous cells where identified. Hints of decapitation secretion occurred at the apex of the luminal layer. An immunohistochemical study using a standard avidin-biotin peroxidase method disclosed CK7 and CK13 reactivity in the columnar cells. Epithelial membrane antigen (EMA) and carcinoembryonic (CEA) antigen immunoreactivity occurred at the apical border of the luminal cells. No staining was obtained with anti-CK20, human milk fat globulin 1 (HMFG1) and anti- S100 protein. The study supports its histogenetic relationship with the urothelium.
- NOD2 gene mutations in ulcerative colitis: useless or misunderstood?Publication . Freire, P; Cardoso, R; Figueiredo, P; Donato, MM; Ferreira, M; Mendes, S; Ferreira, AM; Vasconcelos, H; Portela, F; Sofia, CPURPOSE: NOD2 mutations have been linked to an increased risk of Crohn's disease and to some of its phenotypes. The association between NOD2 mutations and susceptibility to ulcerative colitis (UC) remains somewhat controversial and potential correlations between these mutations and UC phenotype have not been studied. AIM: To assess whether NOD2 mutations are a risk factor for UC in Portugal and if there are any genotype-phenotype correlations in these patients. METHODS: The three main NOD2 mutations were searched in 200 patients with UC and in 202 healthy controls. RESULTS: NOD2 mutations were present in 28 patients with UC (14.0 %) and in 27 controls (13.4 %) (p = 0.853). Mutation carriers were more likely to receive steroids during the first year of disease than non-carriers (54.2 % vs. 29.6 %, p = 0.018) and among these patients the need for intravenous administration was more frequent in those with the R702W polymorphism (90.0 % vs. 45.5 %, p = 0.014). In patients with severe colitis admitted for intravenous steroids, a greater proportion of mutation carriers was considered intravenous-steroid refractory and required salvage therapy (90.0 % vs. 38.1 %, p = 0.004). Patients with NOD2 mutation were submitted to colectomy more frequently than non-carriers (17.9 % vs. 4.1 %. p = 0.015). No correlation with the need for immunosuppressants/immunomodulators was found. CONCLUSIONS: In the Portuguese population, NOD2 mutations do not increase the risk of UC but are associated with a more aggressive course including greater need of steroids in the first year, increased incidence of intravenous-steroid refractoriness and a higher colectomy rate.
- Porocarcinoma and lymph node biopsyPublication . Cardoso, R; Vieira, R; Freitas, JD; Tellechea, O; Lourenço, C; Duarte, H; Julião, MJ; Pedroso de Lima, J; Figueiredo, A
- Sentinel lymph node biopsy for melanoma: experience fo 100 casesPublication . Cardoso, R; Vieira, R; Mascarenhas, R; Monteiro, C; Oliveira, H; Freitas, JD; Tellechea, O; Marques, M; Lourenço, C; Duarte, H; Pedroso de Lima, J; Julião, MJ; Figueiredo, A
- Sentinel lymph node sites in patients with primary cutaneous melanoma of the legs and feetPublication . Vieira, R; Freitas, JD; Cardoso, R; Lourenço, C; Duarte, H; Moreira, A; Oliveira, S; Vieira, F; Pedroso de Lima, J; Figueiredo, A