Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome.

We evaluated growth parameters and hypothalamic-pituitary-gonadal and growth functions in five children with Bardet-Biedl syndrome (BBS). Three of the five children had stature below the fifth percentile for age. Their growth hormone (GH) response to provocation was defective, and computed tomographic (CT) scanning revealed empty sellae in all of them. All the children were obese (body mass index [BMI] > 95th percentile for age). Three had hypercholesterolemia. Their basal serum testosterone concentration and testosterone response to 3-day human chorionic gonadotropin (HCG) stimulation were significantly lower than the levels in 12 age-matched obese normal children. Testosterone secretion failed to respond to HCG therapy for 4 weeks. Both basal gonadotropin levels (luteinizing hormone [LH] and follicle-stimulating hormone [FSH]) and gonadotropin responses to LH-releasing hormone (LHRH) stimulation were normal and did not differ among the two study groups. It appears that primary hypogonadism is a cardinal feature of BBS, and it may be accompanied by hypothalamic and pituitary abnormalities.

Clinical aspects of renal involvement in Bardet-Biedl syndrome.

The Bardet-Biedl syndrome (BBS), which consists of polydactyly, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature. An attempt is made at clarifying the problem. Four children from two families have been observed. There were inter- and intrafamilial variabilities of the expression and severity of the particular features, but retinopathy and structural and/or functional abnormalities were found in 100%. The combination of the two can serve as an easy clinical screening for diagnosis of the disease. Renal involvement is considered to be a cardinal feature of the syndrome. The most common and earliest symptoms are polydypso-polyuria and reduced concentrating ability, which may lead to some diagnostic difficulties, especially in infancy. Three children have end-stage renal disease and two of them are on maintenance haemodialysis, which they tolerate well.

[Incomplete Bardet-Biedl syndrome associated with cerebellar ataxia]. / Niepelny zespól Bardet-Biedla ze wspólistniejacym zanikiem mózdzku.

A case of incomplete Bardet-Biedl syndrome was observed in a woman aged 33 years. The syndrome was associated with cerebellar atrophy. The authors suggest that the pathogenetic cause of the syndrome was a teratogenic effect of quinine during organogenesis while cerebellar atrophy was due probably to metabolic disturbances.

Bardet-Biedl syndrome.

Tapetoretinal degeneration, obesity, polydactyly, mental retardation, and hypogonadism are the cardinal signs of Bardet-Biedl syndrome. Formerly grouped with Laurence-Moon syndrome, Bardet-Biedl has established itself as a separate entity. It is one of the rare systemic diseases associated with a form of retinitis pigmentosa. Presented here is a case report of a child first diagnosed with this condition. The importance of identifying the systemic signs, ocular involvement, electrophysiologic testing, genetics, and management are discussed.

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

To determine the interfamilial and intrafamilial variation in the expression of the Bardet-Biedl syndrome (a form of Laurence-Moon-Biedl syndrome), we looked for the five recognized features of the disorder (retinal dystrophy, obesity, polydactyly, mental retardation, and hypogonadism), plus possible renal manifestations, in some or all of 32 patients with this disorder. All 28 patients examined had severe retinal dystrophy, but only 2 had typical retinitis pigmentosa. Polydactyly was present in 18 of 31 patients, but syndactyly, brachydactyly, or both were present in all. Obesity was present in all but 1 of 25 patients. Only 13 of 32 patients were considered mentally retarded. Scores on verbal subtests of intelligence were usually lower than scores on performance tasks. Seven of eight men had small testes and genitalia, which was not due to hypogonadotropism. All 12 women studied had menstrual irregularities, and 3 had low serum estrogen levels (1 of these had hypogonadotropism, and 2 had primary gonadal failure). The remaining women who were of reproductive age had endocrinologic evidence of reproductive dysfunction. Diabetes mellitus was present in 9 of 20 patients. Renal structural or functional abnormalities were universal (n = 21), and three patients had end-stage renal failure. We conclude that the characteristic features of Bardet-Biedl syndrome are severe retinal dystrophy, dysmorphic extremities, obesity, renal abnormalities, and (in male patients only) hypogenitalism. Mental retardation, polydactyly, and hypogonadism in female patients are not necessarily present.

The Laurence-Moon-Bardet-Biedl-syndrome.

This is a study of 3 cases of the Laurence-Moon-Bardet-Biedl syndrome in two families. In one family the parents were consaguineous (first cousins). The authors studied the main symptoms and insist on the importance of the ophthalmological manifestation. No hypophyseal involvement was observed in these cases.

Estudio Delphi de la Sociedad Valenciana de Cirugía: tratamiento quirúrgico del cáncer gástrico / A Delphi study by the Surgical Society of Valencia, Spain: surgical treatment of gastric cancer

Se presentan los resultados del primer estudio de consenso auspiciado por la Sociedad Valenciana de Cirugía sobre el tratamiento quirúrgico del cáncer gástrico. Se trata de un esudio tipo Delphi, con la participación de 31 expertos pertenecientes a la mayoría de hospitales de la Comunidad Valenciana. Los temas consensuados han versado sobre los siguientes aspectos: nutrición artificial, métodos de estadificación preoperatoria, tipo de resección y de linfadenectomía, técnicas de reconstrucción, criterios de resecabilidad y temas de organización (AU)