12 research outputs found

    Genome-Wide Association Studies of Serum Magnesium, Potassium, and Sodium Concentrations Identify Six Loci Influencing Serum Magnesium Levels

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    Magnesium, potassium, and sodium, cations commonly measured in serum, are involved in many physiological processes including energy metabolism, nerve and muscle function, signal transduction, and fluid and blood pressure regulation. To evaluate the contribution of common genetic variation to normal physiologic variation in serum concentrations of these cations, we conducted genome-wide association studies of serum magnesium, potassium, and sodium concentrations using ∼2.5 million genotyped and imputed common single nucleotide polymorphisms (SNPs) in 15,366 participants of European descent from the international CHARGE Consortium. Study-specific results were combined using fixed-effects inverse-variance weighted meta-analysis. SNPs demonstrating genome-wide significant (p<5×10−8) or suggestive associations (p<4×10−7) were evaluated for replication in an additional 8,463 subjects of European descent. The association of common variants at six genomic regions (in or near MUC1, ATP2B1, DCDC5, TRPM6, SHROOM3, and MDS1) with serum magnesium levels was genome-wide significant when meta-analyzed with the replication dataset. All initially significant SNPs from the CHARGE Consortium showed nominal association with clinically defined hypomagnesemia, two showed association with kidney function, two with bone mineral density, and one of these also associated with fasting glucose levels. Common variants in CNNM2, a magnesium transporter studied only in model systems to date, as well as in CNNM3 and CNNM4, were also associated with magnesium concentrations in this study. We observed no associations with serum sodium or potassium levels exceeding p<4×10−7. Follow-up studies of newly implicated genomic loci may provide additional insights into the regulation and homeostasis of human serum magnesium levels

    Total knee arthroplasty using cementless keels and cemented tibial trays: 10-year results

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    The problem of early mechanical stability of cemented and cementless keels of the tibial component in total knee arthroplasty (TKA) is controversial. The purpose of this study was to assess clinical and radiographic outcomes of a cohort of 51 TKAs using a cemented platform with cementless keel fixation. At a mean follow-up of 10.4 years (range, 7 to 14 years), the mean Knee Society Score (KSS) was 93 points (range, 59 to 100 points), and the mean functional score was 73 points (range, 0 to 100 points). Only one patient demonstrated progressive tibial radiolucencies at 13.1 years follow-up, which resolved with a revision with an exchange of components. The results of this study suggest that a proximally cemented tibial tray with a press-fit keel TKA provides excellent mean 10-year outcomes

    Patellofemoral arthroplasty: a multi-centre study with minimum 2-year follow-up

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    Recently, patellofemoral arthroplasty has attracted increased interest as a salvage treatment for isolated patellofemoral arthritis. However, there are very few reports of the experience with modern generation patellofemoral arthroplasties. This investigation describes a collective experience of four centres reporting on the outcome in patients of the use of one patellofemoral arthroplasty device. There were 70 patients (79 knees) who had failed an extensive non-operative treatment regimen and/or various conventional alternative surgical treatments. At a mean follow-up of three years (range: 2–6 years), there were 66 knees that had Knee Society Scores greater than 80 points (84%). Seventy-one knees (90%) functioned without pain in daily activity and stair climbing. Symptomatic isolated patellofemoral arthritis was successfully treated with a patellofemoral arthroplasty in the short term. We are encouraged by these excellent early results and await longer follow-up
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