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Two-hundred and sixty-nine shoulders in 223 patients with a diagnosis of primary frozen shoulder were studied. The main outcome measure was the Oxford shoulder score. The mean follow-up from symptom onset was 4.4 years (range, 2-20 years). The mean age at symptom onset was 53.4 years; with women affected more commonly than men (1.6:1.0). Twenty percent of patients reported bilateral symptoms, but there were no recurrent cases. In the long term, 59% of patients had normal or near normal shoulders and 41% reported some ongoing symptoms. The majority of these persistent symptoms were mild (94%), with pain being the most common complaint. Only 6% had severe symptoms with pain and functional loss. Those with the most severe symptoms at condition onset had the worst long-term prognosis, P < .001.

Early, low-risk International Prognostic Scoring System (IPSS) myelodysplastic syndrome (MDS) is a heterogeneous disorder where the molecular and cellular hematopoietic defects are poorly understood. To gain insight into this condition, we analyzed gene expression profiles of marrow CD34+ progenitor cells from normal-karyotype, low-blast-count MDS patients, age-matched controls, and patients with non-MDS anemia. Given the heterogeneity of early MDS, a surprisingly consistent finding was decreased expression of B-cell lineage-affiliated genes in MDS patients compared with healthy controls and 3 of 5 samples with non-MDS anemia. Both patients with non-MDS anemia with reduced B-cell gene expression were on chemotherapy. In 25 of 27 of the original samples and 9 further MDS samples, Taqman real-time polymerase chain reaction (PCR) confirmed these data. Flow cytometry on unfractionated marrow from independent samples also demonstrated reduced B-cell progenitors in MDS patients compared with healthy controls. These novel findings suggest a common perturbation in early MDS hematopoiesis. They also provide the rationale for a larger study to evaluate the diagnostic utility of reduced B-cell progenitor number as a diagnostic biomarker of early low-risk MDS, which can pose a diagnostic challenge.

Using a cohort of 49 families with at least one affected female sibling pair who had total hip arthroplasty for end-stage primary osteoarthritis, we determined the prevalence and relative risk of symptomatic and radiographic osteoarthritis in 145 children. The relative risk of symptomatic radiographic osteoarthritis in these 145 offspring was 3.5 times greater than in 119 age-matched controls (95% confidence interval; range, 2.0-6.2). Most symptoms and radiographic changes involved the hip. Results of this study showed vertical transmission of primary osteoarthritis and that genetic influences play a major role in osteoarthritis of the hip in the Caucasian population.

Objective: Evidence has accumulated supporting a role for genes in the etiology of osteoarthritis (OA). Several candidates have been targeted as potential susceptibility loci including genes that are involved in the regulation of bone density. Genetic association analysis has suggested a role for the vitamin D receptor gene (VDR) and the estrogen receptor gene (ER) in susceptibility. Such findings must be tested in additional independent cohorts. We tested for association of these 2 genes, plus a third gene implicated in bone density, COL1A1, with idiopathic OA., Methods: A case-control cohort of 371 affected probands and 369 unaffected spouses was used. Association was tested using 4 intragenic single nucleotide polymorphisms (SNP), one each for the VDR and COL1A1 genes, and 2 for the ER gene. The VDR and ER SNP are the same SNP that have been associated with OA. All 4 SNP affect restriction enzyme sites and were genotyped using polymerase chain reaction and enzyme digestion. Allele and genotype distributions for each SNP were compared between cases and controls and analyzed using Fisher's exact test., Results: There was no evidence of association of the VDR or the ER gene SNP to OA. There was weak evidence of association of the COL1A1 SNP in female cases (p = 0.017), reflected by a difference in the distribution of genotypes at this SNP between female cases and controls (p = 0.027). However, when corrected for multiple testing, these results were not significant., Conclusion: If the VDR, ER, or COL1A1 genes do encode predisposition to OA then the 4 SNP tested are not associated with major susceptibility alleles at these 3 loci.

We present a two-stage genomewide scan for osteoarthritis-susceptibility loci, using 481 families that each contain at least one affected sibling pair. The first stage, with 272 microsatellite markers and 297 families, involved a sparse map covering 23 chromosomes at intervals of approximately 15 cM. Sixteen markers that showed evidence of linkage at nominal P