Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases that causes visual impairment in infants and children. SPATA7 has recently been identified as the LCA3 and juvenile RP gene in humans, whose function in the retina remains elusive. Here, we show that SPATA7 localizes at the primary cilium of cells and at the connecting cilium (CC) of photoreceptor cells, indicating that SPATA7 is a ciliary protein.
View Article and Find Full Text PDFThis study addressed geographical uniqueness in relation to elite coaching. The study explores the complexities associated to coaching in northern Canadian communities, and how unique geographical surroundings can affect coaching success. The views of fourteen National and International elite coaches from different northern Canadian communities are included within the study.
View Article and Find Full Text PDFObjective: To test whether renal impairment protects from the development of gout.
Methods: We conducted a retrospective cohort study in which 40 hyperuricemic patients (serum uric acid > 0.54 mM/l) with renal impairment (serum creatinine > 200 microM/l) and 40 equally hyperuricemic patients with normal renal function (serum creatinine < 120 microM/l) were given a telephone questionnaire eliciting a history of gout, its pattern and severity, and other features of medical and family history.