Application of multi-detector row helical scanning to postmyelographic CT

The advent of a multi-detector row helical CT has made it possible to attain images over a broader area with good spatial resolution. We assessed whether postmyelographic CT scans obtained using this system provided more information than conventional imaging techniques. Postmyelographic CT scans were preoperatively obtained in 46 patients using a multi-detector row helical CT system. Reconstructed images in the sagittal and coronal planes in all patients and curved reformation images along the dural sac in 37 patients were compared with myelograms and conventional postmyelographic CT scans. In 34 patients comparison was also made with MR images. The multi-detector row CT images demonstrated deformities of the dural sac more clearly than the other modalities in 39 of the 46 patients. They also provided the best visualization of nerve root abnormalities in 24 of the 46 patients and clearly revealed the presence of spurs in all 22 patients with spinal canal stenosis. Postmyelographic CT scans made using a multi-detector row helical CT system provide more information on the dural sac, nerve sleeves, and their contents than other imaging techniques. Electronic Publication     

Genotyping of three candidate genes after whole-genome preamplification of DNA collected from buccal cells

The amount of genomic DNA obtained from buccal cell methods may be suboptimal for large-scale genetics projects, because the quantity of DNA may be insufficient for the number of analyses proposed. Primer extension preamplification (PEP) methods that can amplify the entire genome 100-fold or more, offer a potential solution to this problem. We compared PEP buccal DNA with genomic buccal DNA from 315 individuals from 97 families of the Colorado Longitudinal Twin Study for three loci: the dopamine transporter, dopamine D4 receptor, and serotonin transporter. A total of 1890 genomic and 1890 PEP alleles were assessed, and 1670 comparisons (88%) agreed after a single determination. Fifty-three individuals had one or more failed initial polymerase chain reactions (PCR), with 81 failed PCRs in total, accounting for 162 missing allele calls. The failed PCRs were repeated once, and 146 of the missing allele calls were recovered. Comparisons between genomic and PEP DNA allele calls showed 37 individuals had one or more discrepancies, for a total of 52 inconsistencies. Of these, the initial PEP result was found to be correct in 18 cases, the initial genomic result was found to be correct in 25 cases, and 9 could not be resolved. Overall, rates of true calls, missing data, and genotyping errors for genomic and PEP DNA samples were nearly identical: of the 1890 genotypes assessed, true calls were found in 1845 genomic and 1840 PEP samples, missing genotypes in 18 genomic and 16 PEP samples, and incorrect assignments in 18 genomic and 25 PEP samples. These results suggest that routine whole-genome preamplification of genomic DNA is an appropriate method for providing DNA to genotype these loci.     

Targeting ceramide synthase 6–dependent metastasis-prone phenotype in lung cancer cells

Sphingolipids make up a family of molecules associated with an array of biological functions, including cell death and migration. Sphingolipids are often altered in cancer, though how these alterations lead to tumor formation and progression is largely unknown. Here, we analyzed non–small-cell lung cancer (NSCLC) specimens and cell lines and determined that ceramide synthase 6 (CERS6) is markedly overexpressed compared with controls. Elevated CERS6 expression was due in part to reduction of microRNA-101 (miR-101) and was associated with increased invasion and poor prognosis. CERS6 knockdown in NSCLC cells altered the ceramide profile, resulting in decreased cell migration and invasion in vitro, and decreased the frequency of RAC1-positive lamellipodia formation while CERS6 overexpression promoted it. In murine models, CERS6 knockdown in transplanted NSCLC cells attenuated lung metastasis. Furthermore, combined treatment with l-α-dimyristoylphosphatidylcholine liposome and the glucosylceramide synthase inhibitor D-PDMP induced cell death in association with ceramide accumulation and promoted cancer cell apoptosis and tumor regression in murine models. Together, these results indicate that CERS6-dependent ceramide synthesis and maintenance of ceramide in the cellular membrane are essential for lamellipodia formation and metastasis. Moreover, these results suggest that targeting this homeostasis has potential as a therapeutic strategy for CERS6-overexpressing NSCLC.     

Successful treatment of myelodysplastic syndrome (MDS)-related intestinal Behçet's disease by up-front cord blood transplantation

Beh?et's disease is a chronic, relapsing, inflammatory disease of unknown origin. The association of myelodysplastic syndrome and Beh?et's disease is rare, and recent reports have indicated that immunosuppressive agents alone are not sufficient to control Beh?et's disease associated with MDS and many patients die of infection or hemorrhage. We report a case of MDS with intestinal Beh?et's disease. We performed cord blood transplantation with a myeloablative regimen as the primary treatment. The patient achieved complete remission for both diseases, which continued for more than 16 months. Our experience suggests that CBT may provide a potent therapeutic option for the treatment of MDS-related Beh?et's disease.     

Unexpected intraparenchymal hematoma caused by brain metastasis in a patient with neuroblastoma: case report

A 2-year-old girl who had previously been treated for stage IV intra-abdominal neuroblastoma presented with headache and vomiting. Computed tomography (CT) showed hematoma in the right temporal lobe. Two months previously, she had suffered a generalized seizure but brain CT was unremarkable. The hematoma was removed completely without evidence of vascular anomaly or tumor. Four weeks after surgery, magnetic resonance imaging with gadolinium showed a developing mass lesion in the hematoma bed. A second operation for tumor removal confirmed the rare diagnosis of intraparenchymal metastasis. Metastatic neuroblastoma to the central nervous system (CNS) occasionally can cause massive hemorrhage. Therefore, early detection of CNS metastasis can be important. The related factors in this patient with abdominal neuroblastoma included elevated serum lactate dehydrogenase, N-myc gene amplification, and coexisting orbital metastasis, which all occurred within 22 months from initial diagnosis. The median interval from diagnosis of the primary tumor to diagnosis of CNS metastasis in neuroblastoma is 12-22 months, which indicates relatively late metastasis presentation. The initial presentation of this late metastasis is hemorrhage that can have sudden detrimental consequences, so a patient with neuroblastoma must be followed up carefully, particularly if elevated serum lactate dehydrogenase, orbital metastasis, N-myc gene amplification, or clinical symptoms are present, even if brain CT is unremarkable. The understanding that intraparenchymal hematoma can occur prior to detectable CNS metastasis may be important for early detection of this life-threatening condition.     

Intrathoracic Rosai-Dorfman disease with spontaneous remission: a clinical report and a review of the literature

Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare non-neoplastic disease that is characterized by a proliferation of histiocytes mostly in lymph nodes. However, the etiological mechanism of RDD still remains unclear. Intrathoracic manifestations of RDD are only observed in 2% of patients with RDD. Spontaneous remission was reported in about 20% of patients with RDD; however, there are no reports of an intrathoracic manifestation of RDD that showed a spontaneous remission within a short period of time. A 64-year-old Japanese female with dry cough and left chest pain was introduced to our hospital, and computed tomography revealed a pulmonary nodular lesion and enlarged mediastinal lymph nodes. The bronchial specimen obtained from the abnormal mucosal lesion showed massive infiltration of histiocytes underneath the bronchial epithelium and emperipolesis, a typical pathological finding in RDD, which is characterized by the presence of histiocyte-like cells engulfing intact lymphocytes. These histiocytes were positive for S-100 (one of the known positive markers of RDD) and for CD68 (a marker for various cells of the macrophage lineage). All these findings are consistent with the diagnosis of RDD. These radiological and endoscopic findings spontaneously resolved within four months without any treatment. In conclusion, clinicians should be aware of this disease as one of differential diagnoses of pulmonary nodules in combination with mediastinal lymph node enlargements, especially in order to differentiate it from primary lung cancer.     

Two cases of everolimus-associated interstitial pneumonia in patients with renal cell carcinoma

We herein report two cases of everolimus-associated interstitial pneumonia in patients with renal cell carcinoma. A 68-year-old Japanese man (case 1) was admitted to our hospital because of progressive dyspnea, left infiltration and consolidation on chest radiographs. He had started receiving everolimus (10 mg daily) three months before the admission for the treatment of recurrent renal cell carcinoma. Bronchoalveolar lavage fluid taken from his left B(4) showed a marked increase of lymphocytes (42.9%). An organizing pneumonia pattern of everolimus-associated interstitial pneumonia was strongly suspected radiologically, and treatment with high-dose corticosteroids, discontinuation of everolimus and oxygen support was started. The treatment was successful, and the patient recovered with only minor pulmonary fibrotic changes in the left lower lobe. A 57-year-old Japanese man (case 2) was referred to our department for the evaluation of interstitial pneumonia. He had started to receive everolimus (10 mg daily) four months previously. Chest CT demonstrated interstitial pneumonia predominantly in bilateral lower lobes, with small pulmonary metastatic nodules. His pulmonary complications were spontaneously resolved eight days after the discontinuation of everolimus. To the best of our knowledge, Case 1 is the first reported case of successfully treated organizing pneumonia pattern of interstitial pneumonia with acute respiratory failure induced by everolimus in Japan.     

Impact of diabetes on health-related quality of life in a population study in Japan

Diabetes may impact on health-related quality of life (HRQOL). The aim of this population-based study was to confirm this influence. We examined 2135 residents aged > or =30 years in an entire community, who had no history of cancer or cardiovascular disease and did not require care for daily activity. The response rate was 87.8%. The status of diabetes, other chronic diseases and life practices were assessed by self-reported questionnaires, in which HRQOL was evaluated by the Japanese version SF-36, based on five sub-scales of the domain. Diabetes had been diagnosed in 165 (7.7%) of the study population. Comparison of data, adjusted for sex, age, living alone and employment status between non-diabetics and subjects with diabetes treated by pharmacological therapy had odds ratios (ORs) between the lowest quartiles of sub-scale scores of 1.90 for physical role, 2.51 for general health, and 1.79 for emotional role. The OR for lower general health was also increased in people using only lifestyle modification for treatment of diabetes. Although the OR for mental health was worse in the lifestyle modification group it was not increased in people with diabetes on pharmacological therapy. These associations remained almost unchanged after adjustment for the covariates. The sub-scales of physical and emotional roles and general health were decreased significantly in diabetics with duration of disease between 10 and 19 years or > or =20 years. Our study showed treatment of diabetes clearly influenced HRQOL, with this influence being dependent on the duration of diabetes and primarily affecting physical rather than mental health.