A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report.

CASE: A 44-year-old woman presented with easy fatigability, diplopia, dizziness, and a 2-year history of pelvic, hip, and lower extremity aching and pain. Radiograph, magnetic resonance imaging, computed tomography, and histopathologic imaging studies were obtained. Hypersclerosis of the affected bones led to the initiation of a sclerotic bone dysplasia workup and sequencing of the transforming growth factor beta 1 gene located on chromosome 19q13 revealed a heterozygous rare missense variant in exon-4, leading to a final diagnosis of Camurati-Engelmann disease (CED). Medical treatment thus far has had a minimal effect on her symptoms, and the patient continues to be followed. CONCLUSIONS: This specific mutation has been reported only once previously in a patient with CED. This case report expands the typical phenotype associated with CED in association with the c.667T>C, p.Cys223Arg variant.

Modified Lapidus Procedure with Joint Compression, Meticulous Surface Preparation, and Shear-Strain-Relieved Bone Graft Yields Low Nonunion Rate.

BACKGROUND: The modified Lapidus procedure is widely used to correct hallux valgus but has been reported with high nonunion rates. In this study, we retrospectively reviewed the nonunion rate of the modified Lapidus procedure performed with rigid cross screw fixation, meticulous joint preparation, and shear-strain-relieved calcaneal bone graft. QUESTIONS/PURPOSES: Does the performance of the Lapidus procedure with rigid cross screw fixation, complete joint preparation, and shear-strain-relieved calcaneal bone graft achieve higher union rates than currently reported? If nonunion does occur, what is the clinical course? METHODS: We reviewed both radiographic and clinical results of the modified Lapidus procedure with the above technique in 171 patients (182 feet). Evaluation included age, gender, tobacco use, diabetic status, and radiographic analysis at least 3 months postoperatively. RESULTS: The modified Lapidus procedure described above resulted in a union rate of 97.3% (177 of 182 feet). Three of the five feet with radiographic nonunions were clinically symptomatic. CONCLUSIONS: The union rate of the modified Lapidus procedure is higher than previously reported when performed with rigid cross screw fixation, meticulous joint preparation, and shear-strain-relieved bone graft. Nonunion of the first tarsometatarsal joint should be considered an infrequent occurrence.

Studies presented in poster format at the annual meetings of the American Association Of Hip And Knee Surgeons: how do they fare in the peer review process?

The purpose of this study was to evaluate the eventual publication rates of poster presentations at the annual meetings of the American Association of Hip and Knee Surgeons from 1996 to 2001 (47%). Common belief expects poster presentations to publish at a lower rate than podium presentations, the latter being typically believed to consist of studies of higher scientific value. We hypothesized that this would lead to a lower incidence of eventual peer-reviewed literature publication for posters. Comparisons from an earlier report confirmed our analysis. Also, poster studies that did survive the peer review process were found in a wide array of journals and were found to publish within a relatively short amount of time (mean, 23.6 +/- 15.7 months).

Publication rates of scientific presentations at the American Association of Hip and Knee Surgeons annual meetings from 1996 to 2001.

National orthopedic subspecialty meetings are a research forum where volumes of investigations are presented after a peer-reviewed selection process. The objective of this investigation was to determine the publication rate of recent scientific presentations presented at the American Association of Hip and Knee Surgeons (AAHKS) annual meetings. From 1996 to 2001, 168 (58%) of 292 podium abstracts presented at meetings were published. The average time to publication was 21.7 +/- 14.7 months. Three major orthopedic journals constituted 89% of the publications. The 58% publication rate for AAHKS ranks as one of the higher rates for orthopedic specialty meetings and validates the selection process for abstracts presented. In addition, AAHKS meetings are an excellent source for a wide array of quality research and scientific information.

The READIT assay as a method for genotyping NAT1*10 polymorphisms.

Polymorphisms in the N-acetyltransferases (NATs) have been associated with increased risks for the development of a variety of cancers. The NAT1*10 allele, for example, has been reported to be associated with an increased risk of colon and urinary bladder cancers, among others. Therefore, considerable effort is being placed on the development of genotyping methodologies for NAT activities both for pharmacological as well as disease preventative applications. Most NAT genotyping approaches are gel based and consist of PCR-restriction fragment length polymorphism (RFLP) analysis, allele-specific PCR, or both. Although these approaches have their utility, they are slow, labor intensive, and are not amenable to automation. Recently, a novel approach to genotyping known as the READIT Assay has been introduced. The READIT methodology involves a reversal of the DNA polymerase reaction to generate dNTPs through the phosphorolytic cleavage of oligonucleotide probe molecules annealed to target DNAs. In a coupled reaction, kinase converts the resulting dNTPs to ATP. ATP production is then monitored by the addition of luciferase, generating a light signal proportional to the amount of dNTPs generated through probe depolymerization. We describe the development of a READIT genotyping protocol for the analysis of NATs using the NAT1*10 allele as a model system and demonstrate its utility for the analysis of archival dried blood specimens. We applied this technology to genotype 678 DNAs at the NAT-1088T --> A polymorphic site, and 680 DNAs for the 1095C --> A polymorphism. We report complete concordance for the 1088T --> A polymorphism for all 678 genotypes previously determined by RFLP analysis.