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2.
Pan Afr Med J ; 12: 27, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22891085

RESUMO

A 56-years-old woman was referred to our unit for partially treated acromegaly. She had a high level of insulin growth factor. She did not complain of any pulmonary symptoms and was a non-smoker. Physical examination revealed clinical features of acromegaly. She had a 13 mm pituitary adenoma and was proposed for surgical intervention. Her chest X-ray showed a right paracardiac tumor. Computed tomography scan revealed a large right-sided fowler tumor. Pituitary surgery was cancelled and lobectomy after biopsy with lymph nodes excision was performed through thoracotomy. Histological study of the tumor revealed a medium differentiated epidermoid carcinoma with positive lymph nodes and extension to pleura. She was referred to chemotherapy protocol. Association between carcinoma and acromegaly has previously been reported. Most common tumors are colorectal and thyroid neoplasia. As we see in this case report, we need to consider other carcinomas in acromegalic patients like pulmonary carcinoma, despite their rarity in women.


Assuntos
Acromegalia/complicações , Carcinoma de Células Escamosas/complicações , Neoplasias Pulmonares/complicações , Feminino , Humanos , Pessoa de Meia-Idade
3.
BMJ Case Rep ; 20122012 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-22669020

RESUMO

Familial hypercholesterolaemia (FH) is quite common genetic disorder resulting in high low-density lipoprotein (LDL) cholesterol levels, but homozygous FH is rare. The authors describe a Moroccan family where a 24-year-old man and his 13-year-old brother, born from a consanguineous union, showed characteristics of FH with large tendon, tuberous and planar xanthomas. They had already five deaths in the sibship before the age of 15 years. Blood analysis found high LDL cholesterol levels. Arterial assessment showed diffuse atherosis. Genetic study found that patients are homozygous for the mutation of G266C LDL receptor. Treatment with high doses of statins and ezetimibe was introduced reducing cholesterol up to 70%. Large xanthomas were removed surgically. The G266C mutation has been previously identified in Morocco. Early identification and adequate treatment of individuals with hypercholesterolaemia and their relatives are essential for prevention of early death in these populations.


Assuntos
Hiperlipoproteinemia Tipo II/genética , Receptores de LDL/genética , Adolescente , Anticolesterolemiantes/uso terapêutico , Azetidinas/uso terapêutico , Consanguinidade , Ezetimiba , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Hiperlipoproteinemia Tipo II/tratamento farmacológico , Masculino , Marrocos , Mutação , Adulto Jovem
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