Further evidence of linkage at 7p22 with familial hyperaldosteronism type II and exclusion of genetic defects in the RBAK coding regions

Once thought rare, primary aldosteronism (PAL) is now reported to be responsible for 5–10% of hypertension. Unlike familial hyperaldosteronism type I (FH-I), FH-II is not glucocorticoidremediable and not associated with the hybrid CYP11B1/CYP11B2 gene mutation. At least five times more common than FH-I, FH-II is clinically indistinguishable from apparently sporadic PAL, suggesting an even higher incidence. Studies performed in collaboration with C Stratakis (NIH, Bethesda) on our largest Australian family (eight affected members) demonstrated linkage at chromosome 7p22. Linkage at this region was also found in a South American family (DNA provided by MI New, Mount Sinai School of Medicine, New York) and in a second Australian family. The combined multipoint LOD score for these 3 families is 4.61 (q = 0) with markers D7S462 and D7S517, providing strong support for this locus harbouring mutations responsible for FH-II. A newly identified recombination event in our largest Australian family has narrowed the region of linkage by 1.8 Mb, permitting exclusion of approximately half the genes residing in the originally reported 5 Mb linked locus. Candidate genes that are involved in cell cycle control are of interest as adrenal hyperplasia and adrenal adenomas are common in FH-II patients. A novel candidate gene in this linked region produces the retinoblastoma-associated Kruppel-associated box protein (RBaK) which interacts with the retinoblastoma gene product to repress the expression of genes activated by members of the E2F family of transcription factors.

The rural medicine rotation: Increasing rural recruitment through quality undergraduate rural experiences

TITLE: The Rural Medicine Rotation: Increasing Rural Recruitment through Quality Undergraduate Rural Experiences Eley Diann, University of Queensland, School of Medicine, Rural Clinical Division, Toowoomba 4350, Queensland Australia Baker Peter, University of Queensland, School of Medicine Rural, Clinical Division, Toowoomba 4350, Queensland Australia Chater Bruce, University of Queensland, Chair, Clinical School Management Committee, School of Medicine Rural Clinical Division, Queensland Australia CONTEXT: While rural background and rural exposure during medical training increases the likelihood of rural recruitment (Wilkinson, 2003), the quality and content of that exposure is the key to altering undergraduatesâ?? perceptions of rural practice. The Rural Clinical Division at University of Queensland (UQ) runs the Rural Medicine Rotation (RMR) within the School of Medicine. The RMR is one of five eight week clinical rotations in Year three and is compulsory for all students. The RMR provides the opportunity to learn from a wide range of health professionals and clinical exposure is not restricted to general practice but also includes remote area nursing, Indigenous health care, allied health professionals and medical specialists. Week 1 involves preparation for their rural placement with workshops and seminars and Week 8 consolidates their placement and includes case and project presentations and a summative assessment. Weeks 2-7 are spent living and working as part of the health team in different rural communities. SETTING: Rural communities in and around Queensland including locations such as Arnham Land, Thursday Island, Mt. Isa and Alice Springs METHOD: All aspects of the RMR are evaluated with surveys using both qualitative and quantitative free response questions, completed by all students at the end of the Week 8. RESULTS: Overall the RMR is evaluated highly and narratives offered by students show that the RMR provides a positive rural experience. The overall impact of the RMR for students in 2004 ranked 3.45 on a scale of 1 to 4 (1 = lowest and 4 = highest), and is exemplified by the following quote; â??I enjoyed my placement so much I am now considering rural medicine something I definitely had not considered beforeâ??. OUTCOME: The positive impact of the RMR on studentâ??s perceptions of rural medicine is encouraging and can help achieve the overall aim of increasing recruitment of the rural workforce in Australia.