Posttraumatic Osteoarthritis of the Distal Interphalangeal Joint: A Follow-Up Study of 12 Years After Nonsurgical Treatment of Mallet Finger Fractures.

PURPOSE: In treatment of mallet finger fractures (MFFs), the aim is to minimize residual extension lag, reduce subluxation, and restore congruency of the distal interphalangeal (DIP) joint. Failure to do so may increase the risk of secondary osteoarthritis (OA). However, long-term follow-up studies focusing on OA of the DIP joint after an MFF are scarce. The purpose of this study was to assess OA, functional outcomes, and patient-reported outcome measures (PROMs) after an MFF. METHODS: A cohort study was performed with 52 patients who sustained an MFF at a mean of 12.1 years (range, 9.9-15.5 years) previously and who were treated nonsurgically. A healthy contralateral DIP joint was used as the control. Outcomes were radiographic OA, using the Kellgren and Lawrence and Osteoarthritis Research Society International classifications, range of motion, pinch strength, and PROMs (Patient-Rated Wrist Hand Evaluation, Quick Disabilities of the Arm, Shoulder, and Hand, Michigan Hand Outcome Questionnaire, 12-item Short Form Health Survey). Radiographic OA was correlated with PROMs and functional outcomes. RESULTS: At follow-up, there was an increase in OA in 41% to 44% of the MFFs. Of all the MFFs, 23% to 25% showed a higher degree of OA than the healthy control DIP joint. Range of motion (mean difference ranging from -6° to -14°) and Michigan Hand Outcome Questionnaire score (median difference, -1.3) were decreased after MFFs but not to a clinically relevant extent. Radiographic OA was weakly to moderately correlated with functional outcomes and PROMs. CONCLUSIONS: Radiological OA after an MFF is similar to the natural degenerative process in the DIP joint and is accompanied by a decrease in range of motion of the DIP joint, which does not clinically affect PROMs. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.

Up to 10% of cases of gastric cancer are familial, but so far, only mutations in CDH1 have been associated with gastric cancer risk. To identify genetic variants that affect risk for gastric cancer, we collected blood samples from 28 patients with hereditary diffuse gastric cancer (HDGC) not associated with mutations in CDH1 and performed whole-exome sequence analysis. We then analyzed sequences of candidate genes in 333 independent HDGC and non-HDGC cases. We identified 11 cases with mutations in PALB2, BRCA1, or RAD51C genes, which regulate homologous DNA recombination. We found these mutations in 2 of 31 patients with HDGC (6.5%) and 9 of 331 patients with sporadic gastric cancer (2.8%). Most of these mutations had been previously associated with other types of tumors and partially co-segregated with gastric cancer in our study. Tumors that developed in patients with these mutations had a mutation signature associated with somatic homologous recombination deficiency. Our findings indicate that defects in homologous recombination increase risk for gastric cancer.

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed approximately 19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated approximately 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.

A multiple regression model for urban traffic noise in Hong Kong.

This article describes the roadside traffic noise surveys conducted in heavily built-up urban areas in Hong Kong. Noise measurements were carried out along 18 major roads in 1999. The measurement data included L10, L50, L90, Leq, Lmax, the number of light vehicles, the number of heavy vehicles, the total traffic flow, and the average speed of vehicles. Statistical analysis using the analysis of variance (ANOVA) and Tukey test (p<0.05) reveals that the total traffic flow and the number of heavy vehicles are the most significant factors of urban traffic noise. Multiple regression was used to derive a set of empirical formulas for predicting L10 noise level due to road traffic. The accuracy of these empirical formulas is quantified and compared to that of another widely used prediction model in Hong Kong--the Calculation of Road Traffic Noise. The applicability of the selected multiple regression model is validated by the noise measurements performed in the winter of 2000.