Association analysis of the interleukin 17 genes IL17A and IL17F as potential osteoarthritis susceptibility loci.
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Aged↗
Biomedical subjects
O Heath
Publications and source records attributed to O Heath.
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.
Female↗
A multi-disciplinary professional practice model: supporting autonomy and accountability in program-based structure.
This article addresses the challenge of maintaining high quality patient care in a large, diverse health care organization as it merged and moved from a functional to a program-based management structure. The article describes the Professional Practice Model (PPM) which was developed to address the professional issues inherent in a program-based management structure. The operationalization of the PPM, including the committee structures which were put in place to support it, are discussed. The final section of the article highlights the strengths and challenges which have arisen through the development and implementation of the Professional Practice Model.
Decision Making, Organizational↗