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- Eosinophilic fasciitis: an atypical presentation of a rare diseasePublication . Cabral, C; Novais, A; Araujo, D; Mosca, A; Lages, A; Knock, AEosinophilic fasciitis, or Shulman's disease, is a rare disease of unknown etiology. It is characterized by peripheral eosinophilia, hypergammaglobulinemia, and high erythrocyte sedimentation rate. The diagnosis is confirmed by a deep biopsy of the skin. The first line of treatment is corticotherapy. We present a rare case of eosinophilic fasciitis in a 27-year-old woman with an atypical presentation with symmetrical peripheral edema and a Groove sign. The patient responded well to treatment with corticosteroids at high doses and, in this context, was associated with hydroxychloroquine and azathioprine. After two and a half years, peripheral eosinophilia had increased, and more of her skin had hardened. At that time, the therapy was modified to include corticoids, methotrexate, and penicillamine. It is of great importance to publicize these cases that allow us to gather experience and better treat our patients.
- Easy resolution of severe obstructive kidney injuryPublication . Cabral, C; Novais, AP; Araújo, D; Mosca, AChronic constipation is a common diagnosis with a high prevalence in the elderly. Constipation affects the quality of life of sick individuals, bringing several clinical complications.
- Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1aPublication . Moutinho, A; Carvalho, R; Ferreira-Reis, R; Tavares, SINTRODUCTION: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype. MATERIALS AND METHODS: DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report. RESULTS: We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c.524_530+3del). CONCLUSION: Pseudohypoparathyroidism type 1a is mostly caused by inactivating GNAS mutations that have been gradually reported in the literature that lead to a typical and complex clinical phenotype and resistance to multiple hormones. The deletion caused by the mutation identified in the presented case has not been reported previously.
- Intracardiac mass from Burkitt's lymphoma in an immunocompromised patient: a very rare form of presentationPublication . Vilaça, A; Monteiro, M; Pimentel, T; Marques, H
- Encapsulated Abdominal Fat NecrosisPublication . Magalhães, R; Oliveira, J; Caridade, S
- Pulmonary Kaposi sarcoma and disseminated Mycobacterium genavense infection in an HIV-infected patientPublication . Tribuna, C; Ângela, C; Eira, I; Carvalho, AWe report a case of Kaposi sarcoma (KS) and disseminated infection by Mycobacterium genavense in a 40-year-old HIV-positive man with CD4+ T-cell count 5/µL. He presented with anorexia, diarrhoea, cachexia and multiple firm violaceous nodules distributed over the face, neck and upper and lower extremities. Biopsy of a skin nodule was performed, confirming KS. Immunoperoxidase staining for human herpesvirus 8 was strongly positive. Endoscopic examination revealed erosive duodenopathy. Multiple biopsy samples showed numerous acid-fast bacilli at direct microscopic examination. Real-time PCR (RT-PCR) identified M. genavense. A CT scan showed diffuse pulmonary infiltrates with a 'tree-in-bud' appearance, striking splenomegaly and abdominal lymphadenopathy. A bronchoscopy was performed, revealing typical Kaposi's lesions in the upper respiratory tract. RT-PCR of bronchial aspirate identified M. genavense and Pneumocystis jirovecii. Despite treatment with highly active antiretroviral therapy, antimycobacterial therapy and trimethoprim/sulfamethoxazole, the outcome was fatal.
- Intralobar pulmonary sequestration: diagnostic expertisePublication . Sotto-Mayor, J; Rocha, D; Esperança, S; Oliveira e Silva, AAn obese 22-year-old man with a history of recurrent respiratory infections presented to the emergency room with left pleuritic chest pain, productive cough with mucupurulent sputum and an axillary temperature of 37.7°C. Blood work showed elevated inflammatory parameters and chest X-ray was relevant for heterogeneous infiltration in the left base and opacity of the left costophrenic angle. An angio-CT scan revealed areas of bilateral consolidation with presence of an arterial branch originating from the aorta to the collected area of the left lower lobe, consistent with a respiratory infection grafted on a intralobar pulmonary sequestration of the left lung base. The infectious process was treated and the patient was planned for a lower left lobectomy.
- Unexpected cause of respiratory distressPublication . Sotto-Mayor, J; Lages, A; Esperança, S; Oliveira e Silva, A
- IMAGES IN CLINICAL MEDICINE. Gastric Ascaris InfectionPublication . Sotto-Mayor, J; Esperança, S
- Autoimmune diseases and pregnancy: analysis of a series of cases.Publication . Gomes, V; Mesquita, A; Capela, CBACKGROUND: An autoimmune disease is characterized by tissue damage, caused by self-reactivity of different effector mechanisms of the immune system, namely antibodies and T cells. All autoimmune diseases, to some extent, have implications for fertility and obstetrics. Currently, due to available treatments and specialised care for pregnant women with autoimmune disease, the prognosis for both mother and child has improved significantly. However these pregnancies are always high risk. The purpose of this study is to analyse the fertility/pregnancy process of women with systemic and organ-specific autoimmune diseases and assess pathological and treatment implications. METHODS: The authors performed an analysis of the clinical records and relevant obstetric history of five patients representing five distinct autoimmune pathological scenarios, selected from Autoimmune Disease Consultation at the Hospital of Braga, and reviewed the literature. RESULTS: The five clinical cases are the following: Case 1-28 years old with systemic lupus erythematosus, and clinical remission of the disease, under medication with hydroxychloroquine, prednisolone and acetylsalicylic acid, with incomplete miscarriage at 7 weeks of gestation without signs of thrombosis. Case 2-44 years old with history of two late miscarriages, a single preterm delivery (33 weeks) and multiple thrombotic events over the years, was diagnosed with antiphospholipid syndrome after acute myocardial infarction. Case 3-31 years old with polymyositis, treated with azathioprine for 3 years with complete remission of the disease, took the informed decision to get pregnant after medical consultation and full weaning from azathioprine, and gave birth to a healthy term new-born. Case 4-38 years old pregnant woman developed Behcet's syndrome during the final 15 weeks of gestation and with disease exacerbation after delivery. Case 5-36 years old with autoimmune thyroiditis diagnosed during her first pregnancy, with difficult control over the thyroid function over the years and first trimester miscarriage, suffered a second miscarriage despite clinical stability and antibody regression. CONCLUSIONS: As described in literature, the authors found a strong association between autoimmune disease and obstetric complications, especially with systemic lupus erythematosus, antiphospholipid syndrome and autoimmune thyroiditis.