The product is a recombinant analogue of human leptin and is claimed to be the first and only licensed treatment in Europe indicated as an adjunct to diet as a replacement therapy to treat the complications of leptin deficiency in (LD) patients with confirmed congenital generalised LD (Berardinelli-Seip syndrome
) or acquired generalised LD (Lawrence syndrome) in adults and children 2 years of age and above; or with confirmed familial partial LD or acquired partial LD (Barraquer-Simons syndrome), in adults and children 12 years of age and above for whom standard treatments have failed to achieve adequate metabolic control.
Unlike studies that address topics more closely related to the effects of geneticization on social life through ethnographies over notions such as genetic inheritance and predictive tests (9,10), this paper focuses on the experience of people living with this type of disease, specifically with the Berardinelli-Seip Syndrome (BSS) in the Brazilian Northeast.
During this period, two Annual Meetings of the Association of Parents and People with the Berardinelli-Seip Syndrome of Rio Grande do Norte (ASPOSBERN) participated.
28 Solanki M Patil SS Baweja DK Noorani H PkS.Talon cusps macrodontia and aberrant tooth morphology in Berardinelli-Seip syndrome
. Oral Surg Oral Med Oral Pathol Oral Radiol Endod Jan 2008; 105(1): e41-7.
It was first described in Brazil in 1954 by Berardinelli and further characterized by Seip, being subsequently named Berardinelli-Seip Syndrome (4, 5).
Cardiac involvement in total generalized lipodystrophy (Berardinelli-Seip Syndrome).