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Il contributo della biologia molecolare nella diagnostica delle ipercolesterolemie familiari
Launois-Bensaude's syndrome: Our experience in five cases
Launois-Bensaude's benign adenolipomatosis is an infrequent, though not exceptional disease. Its characteristics are a symmetrical storage of lipomatous tissue expecially in the cervical area and with decreasing frequency in abdominal, lumbar and scrotal areas. Etiology is unknown. Pathogenesis is probably linked to a fatty localized response to catecholamines lipolytic action. Five cases treated between 1986 and 1991 are here analyzed. Clinic, disease evolution and tactical surgical attitude are described. Association with alcoholic hepatopathy, diabetes or other endocrine disorders, hyperuricaemia, hyperlipidaemia, peripheral neuropathy is appraised. Besides, histological picture, fat composition and enzymatic pattern of lipomatous tissue compared to normal subcutaneous tissue are explained. Therapeutic possibilities and personal surgical choices in relation to adenolipomatous tissue features and involved areas are discussed
Investigating the late fertility transition in Sardinia with individual data on a long‐living population (Villagrande, 1851-2012)
How the survival of children may affect the fertility behaviour of their mother? More directly
could the lost of a child increase the fertility of his/her mother. This question is important in the
study of the impact of the reduction of infant mortality for the fertility transition. Sardinian
population that experienced late fertility transition and high level of marital fertility until the
1950’s has been reported as an appropriate case to address this question. We select the village of
Villagrande located at 700 meters above sea level in the province of Ogliastra with 3,441
inhabitants still involved in agro-pastoral activities and living and traditional life style still
prevalent. Based on church and civil records we reconstruct 702 completed families with parents
married between 1851 and 1955. Even if we observe that mothers losing one child have a lower
over risk to have a new child during the transitional period compared to the period of natural
fertility regime, the decrease of fertility is lower that what could be expected from the decrease in
infant mortality. In fact the fertility level for mother without lost child increased in the first phase
of the transition between 1931 and 1950 and started to decrease thereafter only
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