Experience of people living with the Berardinelli-Seip Syndrome in the Brazilian Northeast. / Experiência de pessoas que vivem com a Síndrome de Berardinelli-Seip no Nordeste brasileiro.

This paper analyzes the experience of people living with the Berardinelli-Seip Syndrome in the Brazilian Northeast. This qualitative study was developed with eleven informants, namely, nine people living with the syndrome and two mothers. Information was gathered using participant observation, social characterization and semi-structured interviews. Data were analyzed by means of a thematic coding technique. Two categories emerged: (1) 'the secret is to shut your mouth': food management in daily life; and (2) 'Ah, is it a transvestite?' body, gender, and masculinization. We concluded that, in the experience of the informants, their negotiations and creativity translated into strategies for food management that integrated tastes, values, habits, biomedical prescriptions and pleasures involved in commensality situations. Regarding corporeality, it has been shown that representations and experiences with the body show gender inequalities, insofar as women become privileged targets of stigmas, prejudices and discrimination in adult life.

O artigo analisa a experiência de pessoas que vivem com a Síndrome de Berardinelli-Seip no Nordeste brasileiro. Este estudo qualitativo foi desenvolvido com onze interlocutores, sendo nove pessoas vivendo com a síndrome e duas mães. Para coligir as informações, utilizaram-se observação participante, caracterização social e entrevistas semiestruturadas. Os dados foram analisados por meio da técnica de codificação temática. Emergiram duas categorias: (1) 'o segredo é fechar a boca': gerenciamento da alimentação na vida cotidiana; e (2) 'ah, é uma travesti?' Corpo, gênero e masculinização. Concluiu-se que na experiência dos interlocutores seus agenciamentos e criatividade se traduziram em estratégias para gerenciamento da alimentação que integravam gostos, valores, hábitos, prescrições biomédicas e prazeres envolvidos em situações de comensalidade. No que tange à corporeidade, evidenciou-se que as representações e as experiências com o corpo apresentam desigualdades de gênero, na medida em que a mulher passa a ser alvo privilegiado de estigmas, preconceitos e discriminação na vida adulta.

Experiência de pessoas que vivem com a Síndrome de Berardinelli-Seip no Nordeste brasileiro / Experience of people living with the Berardinelli-Seip Syndrome in the Brazilian Northeast

Resumo O artigo analisa a experiência de pessoas que vivem com a Síndrome de Berardinelli-Seip no Nordeste brasileiro. Este estudo qualitativo foi desenvolvido com onze interlocutores, sendo nove pessoas vivendo com a síndrome e duas mães. Para coligir as informações, utilizaram-se observação participante, caracterização social e entrevistas semiestruturadas. Os dados foram analisados por meio da técnica de codificação temática. Emergiram duas categorias: (1) 'o segredo é fechar a boca': gerenciamento da alimentação na vida cotidiana; e (2) 'ah, é uma travesti?' Corpo, gênero e masculinização. Concluiu-se que na experiência dos interlocutores seus agenciamentos e criatividade se traduziram em estratégias para gerenciamento da alimentação que integravam gostos, valores, hábitos, prescrições biomédicas e prazeres envolvidos em situações de comensalidade. No que tange à corporeidade, evidenciou-se que as representações e as experiências com o corpo apresentam desigualdades de gênero, na medida em que a mulher passa a ser alvo privilegiado de estigmas, preconceitos e discriminação na vida adulta.

Abstract This paper analyzes the experience of people living with the Berardinelli-Seip Syndrome in the Brazilian Northeast. This qualitative study was developed with eleven informants, namely, nine people living with the syndrome and two mothers. Information was gathered using participant observation, social characterization and semi-structured interviews. Data were analyzed by means of a thematic coding technique. Two categories emerged: (1) 'the secret is to shut your mouth': food management in daily life; and (2) 'Ah, is it a transvestite?' body, gender, and masculinization. We concluded that, in the experience of the informants, their negotiations and creativity translated into strategies for food management that integrated tastes, values, habits, biomedical prescriptions and pleasures involved in commensality situations. Regarding corporeality, it has been shown that representations and experiences with the body show gender inequalities, insofar as women become privileged targets of stigmas, prejudices and discrimination in adult life.

Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene.

Congenital generalized lipodystrophy (CGL) is an autosomal recessive metabolic syndrome with involvement of multiple organs. Mutations in BSCL2 are known to be associated with a severe form of CGL and mental retardation (MR). The genetic heterogeneity in CGL patients is accompanied by phenotypic heterogeneity in different ethnic groups. Studies in the Indian context are very few in this regard. We report here a detailed clinical analysis of a CGL case from infancy to adult hood. Interestingly, the patient was found to be homozygous for a novel BSCL2 mutation, but with normal intellectual development contrasting with the MR associated with BSCL2 mutation in CGL patients. The biochemical investigations at the time of diagnosis (9 months) included total cholesterol, total lipids, triglycerides, phospholipids, ß-lipoprotein and free fatty acids, which were above normal limits. The clinical phenotype, viz. lack of subcutaneous fat, hepatosplenomegaly, cardiomegaly, and advanced bone age was also documented. The patient was found to be insulin resistant and diabetes mellitus was diagnosed by age 13 years. Ultrasonography of the ovaries at age 22 showed polycystic features with elevated levels of gonadotropins and negligible levels of serum leptin. For genetic analysis, direct DNA sequencing of BSCL2 was carried out and disclosed an 11-base-pair deletion in exon 6 (H217fsX272) resulting in a truncated protein. This is a novel mutation that contributes to CGL formation in a family of Indian origin and adds to the array of variants reported in this disorder. Moreover, the novel mutation is found to be associated with normal intellectual ability.