Osseous anatomy of the lumbosacral spine in Marfan syndrome

STUDY DESIGN: This study examines pedicle widths, laminar thicknesses, and scalloping values for lumbosacral spine elements in Marfan volunteers. Comparisons were made between these measurements and norms as well as measurements between Marfan patients with and without dural ectasia. OBJECTIVES: To determine if the lumbosacral vertebral elements are altered in the patient with Marfan syndrome. SUMMARY OF BACKGROUND DATA: Several abnormalities have been noted in Marfan lumbar spine, including pedicular attenuation and widened interpediculate distances. This may be due to abnormalities of growth or presence of dural ectasia. Given the large numbers of Marfan patients requiring spinal surgery and the high postoperative failure rate, better understanding of the bony anatomy of Marfan lumbar spine is necessary, especially if use of instrumentation is anticipated. METHODS: Thirty-two volunteers with Marfan syndrome based on the Ghent criteria underwent spiral computed tomography of the lumbosacral spine. Images were evaluated for dural ectasia, and measurements of pedicle width, laminar thickness, and vertebral scalloping were made. RESULTS: Pedicle widths and laminar thicknesses were significantly smaller in Marfan patients at all levels (P<0.001). Mean pedicle widths at L1-L3 were smaller than the smallest available pedicle screw (5 mm). In Marfan patients with dural ectasia, laminar thickness from L5-S2 and pedicle widths at all lumbar levels were significantly reduced (P<0.01). Vertebral scalloping at S1 was significantly greater in Marfan patients with dural ectasia (P = 0.02). CONCLUSION: Lumbar pedicle width and laminar thickness are significantly reduced in Marfan individuals. Those with dural ectasia demonstrate increased bony erosion of anterior and posterior elements of lumbosacral spine. Preoperative planning and routine computed tomography scans are recommended when operating on Marfan lumbosacral spine.     

Classification of metaphyseal change with magnetic resonance imaging in Legg-Calvé-Perthes disease

Seventy-eight patients (85 affected hips and 71 unaffected hips) with Legg-Calvé-Perthes disease were included in this study to evaluate the metaphyseal change in radiographs and magnetic resonance imaging (MRI) and to define the type of the metaphyseal cyst according to presence or absence of the epiphyseal involvement. The content of the metaphyseal cyst was evaluated by using T1,T2, proton, and gadolinium-enhanced T1-weighted MRI scans. Among 85 hips, there were no changes in 32 hips, marrow edema in 13 hips, false cyst with epiphyseal involvement in 28 hips, and true cyst without epiphyseal involvement in 12 hips. Granulation tissue was found in the false cysts and water-rich fibrotic tissue was found in the true cysts based on the MRI scans. The metaphyseal change in MRI scans was shown in 71% of groups 3 and 4 and in 35% of groups 1 and 2 according to the Catterall classification, and 52% of group A, 56% of group B, and 86% of group C according to the Herring classification. Of the 30 hips at the avascular stage, 33% showed metaphyseal cyst in MRI scans. Of the 53 hips at the fragmentation stage, 60% showed the metaphyseal cyst.     

Expression of placental growth factor gene in lung cancer.

Differences in the gene expression profiles in small cell lung cancers (SCLC) and non-small cell lung cancers (NSCLC) may explain their different clinical characteristics. The aims of this study were (1) to identify genes differentially expressed in SCLC and NSCLC using mRNA differential display, and (2) to determine the clinical relevance of such genes in lung cancer. RNA differential display using three SCLC and six non-SCLC cell lines was used to identify a differentially expressed gene. Differential expression of the gene was confirmed in additional lung cancer cell lines using RT-PCR. Immunohistochemical staining for the gene product was performed on paraffin-embedded tissue from lung cancer patients. We examined the relationship between the expression of the gene and clinical parameters, including disease stage, response to treatment and survival time. The placental growth factor (PGF) gene was identified as preferentially expressed in SCLC compared with NSCLC cell lines using mRNA differential display. Further analysis of 45 lung cancer cell lines using RT-PCR showed that the placental growth factor (PGF) gene was expressed in nine of 13 SCLC cell lines (69%) and five of 32 NSCLC cell lines (15.6%) (p < 0.001, Fisher's exact test). Immunohistochemistry using anti-PGF antibody on the paraffin blocks from lung cancer patients showed that PGF expression was significantly higher in SCLC than NSCLC tissue sections (32 vs. 5.6%, p = 0.041, Fisher's exact test). Expression of PGF protein did not correlate with disease stage, response to treatment or survival time in SCLC patients. The present study suggests there is higher expression of PGF in SCLC compared to NSCLC. It may be that higher expression of the angiogenic factor PGF contributes to differences between the progression of SCLC and NSCLC, especially in regard to the nature of SCLC metastasis.     

Thirteen novel mutations of the replicated region of PKD1 in an Asian population

BACKGROUND: Mutations of PKD1 are thought to account for approximately 85% of all mutations in autosomal dominant polycystic kidney disease (ADPKD). The search for PKD1 mutations has been hindered by both its large size and complicated genomic structure. To date, few mutations that affect the replicated segment of PKD1 have been described, and virtually all have been reported in Caucasian patients. METHODS: In the present study, we have used a long-range polymerase chain reaction (PCR)-based strategy previously developed by our laboratory to analyze exons in the replicated region of PKD1 in a population of 41 unrelated Thai and 6 unrelated Korean families with ADPKD. We have amplified approximately 3.5 and approximately 5 kb PKD1 gene-specific fragments (5'MR and 5'LR) containing exons 13 to 15 and 15 to 21 and performed single-stand conformation analysis (SSCA) on nested PCR products. RESULTS: Nine novel pathogenic mutations were detected, including six nonsense and three frameshift mutations. One of the deletions was shown to be a de novo mutation. Four potentially pathogenic variants, including one 3 bp insertion and three missense mutations, were also discovered. Two of the nonconservative amino acid substitutions were predicted to disrupt the three-dimensional structure of the PKD repeats. In addition, six polymorphisms, including two missense and four silent nucleotide substitutions, were identified. Approximately 25% of both the pathogenic and normal variants were found to be present in at least one of the homologous loci. CONCLUSION: To our knowledge, this is the first report of mutation analysis of the replicated region of PKD1 in a non-Caucasian population. The methods used in this study are widely applicable and can be used to characterize PKD1 in a number of ethnic groups using DNA samples prepared using standard techniques. Our data suggest that gene conversion may play a significant role in producing variability of the PKD1 sequence in this population. The identification of additional mutations will help guide the study of polycystin-1 and better help us to understand the pathophysiology of this common disease.     

Association of Helicobacter pylori Infection with Gastric Adenocarcinoma

Gastric adenocarcinoma is the most prevalent cancer in South Korea, and Helicobacter pylori (H. pylori) infection is also common. This study was performed to examine the association between H. pylori infection and gastric cancer, taking into account various other factors. To investigate the association between gastric adenocarcinoma and H. pylori infection, determined by urease-positive reaction in the CLO test, a total of 175 paired specimens (175 tumor and 175 tissues adjacent to tumor) of stomach cancer patients and a total of 113 control specimens were obtained. The positive H. pylori infection rates were 78.9% (138/175) among the patients in specimens of tumor or tissues adjacent to the tumor and 41.6% (47/113) among controls in the CLO test. A positive correlation between H. pylori infection and gastric cancer was observed (age-adjusted odds ratio, 7.0; MH χ²=34.5 with P <0.0005). These data suggest that stomach cancer patients in Korea have high infection rates of H. pylori regardless of site specificity, and this infection might be causally associated with stomach cancer.     

Comparing MR imaging and CT in the staging of gastric carcinoma

OBJECTIVE: The purpose of this study was to assess the usefulness of breath-hold two-dimensional (2D) fast low-angle shot (FLASH) and T2-weighted turbo spin-echo fast MR imaging compared with helical CT in the staging of gastric carcinoma. SUBJECTS AND METHODS: Thirty patients with gastric carcinoma underwent preoperative MR imaging and helical CT. MR imaging at 1.5 T was performed immediately after the intramuscular injection of scopolamine and the oral administration of water or effervescent granules. Breath-hold 2D FLASH T1-weighted images in all three planes, turbo spin-echo T2-weighted axial images, and gadolinium-enhanced fat-suppressed 2D FLASH axial images were included. Helical CT was performed 60 sec after initiation of i.v. contrast medium injection (2.5-3 ml/sec). Two groups of two radiologists each independently analyzed the MR and helical CT findings, and these results were compared with the pathologic findings. RESULTS: For T staging, MR imaging accuracy was higher than that of helical CT (73.3% and 66.7%, respectively); however, the accuracies of the two methods were not significantly different from each other (McNemar test, p > 0.05). Overstaging was noted in 6.7% of cases with MR imaging and 10% with helical CT. Understaging was noted in 20% of cases with MR imaging and 23.3% with helical CT. For N staging, the accuracies of MR imaging and helical CT were 55% and 58.6%, respectively, with no statistical significance (overstaging, 10% and 6.9%; understaging, 34.5% and 34.5%, respectively). CONCLUSION: MR imaging was comparable to helical CT in the T and N staging of gastric cancer.     

Idiopathic adhesive capsulitis. A prospective functional outcome study of nonoperative treatment

BACKGROUND: Idiopathic adhesive capsulitis is a commonly recognized but poorly understood cause of a painful and stiff shoulder. Although most orthopaedic literature supports treatment with physical therapy and stretching exercises, some studies have demonstrated late pain and functional deficits. The purpose of this study was to evaluate the outcome of patients with idiopathic adhesive capsulitis who were treated with a stretching-exercise program. METHODS: Seventy-five consecutive patients (seventy-seven shoulders) with phase-II idiopathic adhesive capsulitis were treated with use of a specific four-direction shoulder-stretching exercise program and evaluated prospectively. The initial evaluation included the recording of a detailed medical and orthopaedic history and assessment of pain, range of motion, and function. The outcome evaluation included assessment of pain, range of motion, and function; completion of the Disabilities of the Arm, Shoulder, and Hand (DASH) Questionnaire; and completion of the Short Form-36 (SF-36) Health Survey. The mean duration of follow-up was twenty-two months (range, twelve to forty-one months). One patient died prior to the final evaluation, and three patients were lost to follow-up. RESULTS: Sixty-four (90 percent) of the patients reported a satisfactory outcome. Seven (10 percent) were not satisfied with the outcome, and five (7 percent) underwent manipulation and/or arthroscopic capsular release. The outcomes of the patients who did not have manipulation or capsular release were evaluated. There were significant improvements in the scores for pain at rest (from a mean of 1.57 points before treatment to a mean of 1.16 points at the final evaluation; p < 0.001) and pain with activity (from a mean of 4.12 points before treatment to a mean of 1.33 points at the final evaluation; p < 0.0001). On the average, active forward elevation increased 43 degrees, active external rotation increased 25 degrees, passive internal rotation increased eight vertebral levels, and the glenohumeral rotation arc at 90 degrees of abduction increased 72 degrees (p < 0.00001). The number of "yes" responses to the Simple Shoulder Test increased from a mean of 4.1 (of a possible twelve) to a mean of 10.75 (p < 0.00001). Despite the significant improvements and the high rate of patient satisfaction, there were still significant differences in the pain and motion of the affected shoulder when compared with those of the unaffected, contralateral shoulder (p < 0.00001). At the final outcome evaluation, the DASH scores demonstrated limitations when compared with known population norms, whereas the profiles of the SF-36 were comparable with those of age and gender-matched control populations. Prior treatment with physical therapy and a Workers' Compensation claim or pending litigation were the only variables that were associated with the eventual need for manipulation or capsular release. Male gender and diabetes mellitus were associated with worse motion at the final evaluation. Patients with a greater severity of pain with activity at the initial evaluation had significantly lower DASH scores at the final evaluation, and patients with lower initial scores on the Simple Shoulder Test had comparatively lower scores on the Simple Shoulder Test at the outcome evaluation. CONCLUSIONS: The vast majority of patients who have phase-II idiopathic adhesive capsulitis can be successfully treated with a specific four-direction shoulder-stretching exercise program. Although measurable limitations and deficiencies were noted at the outcome evaluation, these appeared to be acceptable to most of the patients and did not affect their general health status. Patients with more severe pain and functional limitations before treatment had relatively worse outcomes. More aggressive treatment such as manipulation or capsular release was rarely necessary, and the efficacy of early use of these treatments should be further studied.     

Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk.

PURPOSE: Genetic polymorphisms of DNA repair genes seem to determine the DNA repair capacity, which in turn may affect the risk of breast cancer. To evaluate the role of genetic polymorphisms of DNA repair genes in breast cancer, we conducted a hospital-based case-control study of Korean women. EXPERIMENTAL DESIGN: We included 872 incident breast cancer cases and 671 controls recruited from several teaching hospitals in Seoul from 1995 to 2002. Twelve loci of selected DNA repair genes were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (XRCC2 Arg188His, XRCC4 921G > T, XRCC6 1796G > T, LIG4 1977T/C, RAD51 135G > C, 172G > T, RAD52 2259C > T, LIG1 551A > C, ERCC1 8092A > C, 354C > T, hMLH1 -93G > A, and Ile219Val). RESULTS: We found that the RAD52 2259 CT or TT, hMLH1 -93 GG, and ERCC1 8092 AA genotypes were associated with breast cancer risk after adjustment for known risk factors [odds ratio (OR), 1.33; 95% confidence interval (95% CI), 1.02-1.75; OR, 1.31; 95% CI, 0.99-1.74; and OR, 0.58; 95% CI, 0.38-0.89, respectively]. When Bonferroni's method was used to correct for multiple comparisons for nine polymorphisms with P = 0.005, all of these associations were not significant. However, the effects of RAD52 2259 CT or TT and ERCC1 354 CT or TT genotypes were more evident for the estrogen/progesterone receptor-negative cases (OR, 2.03; 95% CI, 1.24-3.34 and OR, 1.99; 95% CI, 1.35-2.94, respectively). CONCLUSION: Our findings suggest that genetic polymorphisms of RAD52, ERCC1, and hMLH1 may be associated with breast cancer risk in Korean women.     

Primary tumors and mediastinal lymph nodes after neoadjuvant concurrent chemoradiotherapy of lung cancer: serial CT findings with pathologic correlation

PURPOSE: The purpose of this work was to describe the changes of primary tumor and mediastinal lymph nodes on CT after neoadjuvant concurrent chemoradiotherapy and to correlate the CT findings with pathology. METHOD: Twenty-one consecutive patients [N2 disease (n = 19) or resectable T4 and N2 disease (n = 2)] with non-small cell lung cancer underwent neoadjuvant concurrent chemoradiotherapy. Changes of primary tumor and mediastinal nodes before and after the therapy were assessed using CT. The CT findings were correlated with pathologic findings. RESULTS: With neoadjuvant therapy, decrease in T stage was achieved in 9 of 21 (43%) patients on CT. On pathology, the remaining tumor consisted mostly of fibrosis and necrosis with little proportion of viable tumor cells (mean volume 17%, range 0-55%). Decrease in nodal stage was achieved in 14 of 21 (67%) patients on pathologic examination. Seven patients had cancer cells in mediastinal lymph nodes: in 6 of 9 (67%) patients with adenocarcinoma and 1 of 12 (8%) patients with squamous cell carcinoma (p = 0.016). CONCLUSION: With neoadjuvant concurrent chemoradiotherapy, the remaining tumor consists mostly of fibrosis or necrosis. Decreased nodal stage on pathology is achieved especially in patients with N2 disease of squamous cell carcinoma. The CT findings of the tumor and mediastinal nodes are not helpful in predicting the pathology after the therapy.