Browsing by Author "Fernandes, B"
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- Allergic and irritant occupational contact dermatitis from AlstroemeriaPublication . Mascarenhas, R; Robalo-Cordeiro, M; Fernandes, B; Oliveira, HS; Gonçalo, Margarida; Figueiredo, A
- Artralgias, febre e lesões cuntâneas: um exercício diagnósticoPublication . Fernandes, B; Pereira da Silva, JA; Figueiredo, A; Porto, A
- Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice IntelectualPublication . Oliveira, R; Rodrigues, F; Venâncio, M; Saraiva, JM; Fernandes, BDevelopmental Delay (DD) and Intellectual Disability (ID), depending on the affected individual being under or above five years-old, result from environmental or genetic causes during the developmental period, that manifest as a subnormal functioning of intellectual abilities. In western countries there is a prevalence of about 3%, with a great impact in the individuals, their families, as well as in the society. Etiologic diagnosis remains unknown in about 65-80% of the cases. It is a clinically heterogeneous condition as it can be sporadic or familiar, encompassing an autosomal dominant, recessive or X-linked transmission. Etiologic investigation emphasizes the importance of the clinical and family history as well as the physical examination, with special care for dysmorphologic evaluation. The authors reviewed DD/ ID focusing not only on clinical diagnosis but mostly on genetic causes and etiologic investigation. The protocol presented is followed by the Medical Genetics Department of Coimbra’s Paediatrics Hospital, in accordance to the international consensus.
- Dermatite de contacto alérgica ocupacional por acrilatosPublication . Vieira, R; Fernandes, B; Gonçalo, Margarida; Figueiredo, A
- Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of a case with perioral papillomatosisPublication . Fernandes, B; Ruas, E; Machado, A; Figueiredo, AWe report a 13-year-old boy with ectodermal dysplasia, ectrodactyly, and syndactyly, hypospadias, photophobia, conductive hearing loss, and perioral papillomatosis. His father had ectrodactyly and hypotrichosis. The clinical picture suggested ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. The presence of perioral papillomatosis, classically seen in Goltz syndrome, has been reported only once before in EEC syndrome.
- Granulomatose de Wegener: forma limitadaPublication . Gil, I; Porto, J; Fernandes, B; Gonçalo, Margarida; Carvalho, L; Vieira, JD; Moura, JA
- Maculopapular eruption from sertraline with positive patch testsPublication . Fernandes, B; Brites, MM; Gonçalo, Margarida; Figueiredo, A
- Pemphigus vulgaris with nail involvement presenting with vegetating and verrucous lesionsPublication . Mascarenhas, R; Fernandes, B; Reis, JP; Tellechea, O; Figueiredo, AWe report the case of a 68-year-old female with longstanding insulin-treated diabetes mellitus, observed for the first time in our department in August 1999 with multiple painful erosive lesions of the oral cavity and many bullous or erosive lesions on the abdominal wall, back, and thigh. She also had vegetating and verrucous lesions, similar to common warts, involving the hands and feet, mainly on the palms, palmar surface of the fingers, and nail folds. Her lesions were present for 1 year. Skin and mucous biopsies showed the characteristic histopathologic findings of pemphigus vulgaris, with an epidermal intercellular IgG deposition on direct immunofluorescence. Histology of a warty lesion of the finger also showed suprabasal acantholysis. After partial improvement with low doses of oral steroids and azathioprine, her disease progressed to involve the oral cavity, trunk, hands, feet, and scalp. Control of her disease required successive treatments of mycophenolate mofetil and cyclophosphamide, as well as corticosteroids. A partial response was obtained with all these treatments. After being controlled by cyclophosphamide that was slowly tapered, she is now well controlled with azathioprine and oral steroids, showing only discrete lesions of the oral mucosa after 1 year of followup. We report this case of pemphigus vulgaris with unusual clinical aspects, namely vegetating and verrucous lesions as well as nail involvement, rarely described in this disease.
- Temporal arteritis presenting with scalp ulcerationPublication . Monteiro, C; Fernandes, B; Reis, JP; Freitas, J; Figueiredo, AWe report the case of a 75-year-old-woman who presented with bilateral scalp ulcerations and blindness, accompanied by severe headache and scalp tenderness, due to bilateral temporal arteritis without systemic involvement. A biopsy taken from the border of an ulceration showed evidence of giant cell arteritis. She was treated with oral prednisone, 60 mg per day. The ulcerations healed in a few weeks but the vision loss was irreversible. This case highlights for temporal arteritis the importance of accurate and timely diagnosis as well as the need for prompt therapy with systemic steroids in order to avoid major complications, namely loss of vision. It also demonstrates that scalp necrosis and ulcerations are skin signs associated with a poor prognosis.
- The Portuguese Severe Asthma Registry: Development, Features, and Data Sharing PoliciesPublication . Sá-Sousa, A; Fonseca, JA; Pereira, AM; Ferreira, A; Arrobas, A; Mendes, A; Drummond, M; Videira, W; Costa, T; Farinha, P; Soares, J; Rocha, P; Todo-Bom, A; Sokolova, A; Costa, A; Fernandes, B; Chaves Loureiro, C; Longo, C; Pardal, C; Costa, C; Cruz, C; Loureiro, CC; Lopes, C; Mesquita, D; Faria, E; Magalhães, E; Menezes, F; Todo-Bom, F; Carvalho, F; Regateiro, FS; Falcão, H; Fernandes, I; Gaspar-Marques, J; Viana, J; Ferreira, J; Silva, JM; Simão, L; Almeida, L; Fernandes, L; Ferreira, L; van Zeller, M; Quaresma, M; Castanho, M; André, N; Cortesão, N; Leiria-Pinto, P; Pinto, P; Rosa, P; Carreiro-Martins, P; Gerardo, R; Silva, R; Lucas, S; Almeida, T; Calvo, TThe Portuguese Severe Asthma Registry (Registo de Asma Grave Portugal, RAG) was developed by an open collaborative network of asthma specialists. RAG collects data from adults and pediatric severe asthma patients that despite treatment optimization and adequate management of comorbidities require step 4/5 treatment according to GINA recommendations. In this paper, we describe the development and implementation of RAG, its features, and data sharing policies. The contents and structure of RAG were defined in a multistep consensus process. A pilot version was pretested and iteratively improved. The selection of data elements for RAG considered other severe asthma registries, aiming at characterizing the patient's clinical status whilst avoiding overloading the standard workflow of the clinical appointment. Features of RAG include automatic assessment of eligibility, easy data input, and exportable data in natural language that can be pasted directly in patients' electronic health record and security features to enable data sharing (among researchers and with other international databases) without compromising patients' confidentiality. RAG is a national web-based disease registry of severe asthma patients, available at asmagrave.pt. It allows prospective clinical data collection, promotes standardized care and collaborative clinical research, and may contribute to inform evidence-based healthcare policies for severe asthma.