Analysis of the McLeod syndrome gene in three patients with neuroacanthocytosis

McLeod syndrome is a rare X-linked disorder involving neurological defects and acanthocytosis. We examined the XK gene in three patients with neuroacanthocytosis, one of whom had cardiomyopathy, and his symptoms were very similar to those of McLeod syndrome. We found two new transversions (C to G at codon 204 and G to C at codon 205) in exon 3 in all those cases. However, the transversion at codon 205 was found in all 70 Japanese normal subjects and four non-Japanese (two Caucasian males, one Chinese female and one Micronesian female) and that at codon 204 was also detected in all 14 normal Japanese males and the four non-Japanese. These findings suggest that they are not the cause of McLeod syndrome, but normal polymorphisms which have not been reported. Moreover, there is a possibility that patients with neuroacanthocytosis similar to McLeod syndrome exist without the XK gene abnormalities.     

Differential expression of c-myc gene and c-fos gene in premalignant and malignant tissues from patients with familial polyposis coli

The expression of 8 oncogenes and the structures of 19 oncogenes were analyzed in 15 adenocarcinomas (12 primary and 3 metastatic), 18 adenomatous polyps, and 18 normal colonic mucosae derived from 19 patients with familial polyposis coli. The expression of c-myc gene was most elevated in carcinoma, and moderately elevated in adenoma, compared with corresponding normal colonic mucosa. In contrast, the expression of c-fos gene was markedly decreased in all samples of adenoma and carcinoma, compared with that of normal colonic mucosa. These characteristic expression patterns of c-myc and c-fos genes were revealed not only in familial polyposis coli but also in cases of nonhereditary colon carcinoma. Structures of the 19 oncogenes were not modified in either adenoma or carcinoma, except for amplification of the c-myc gene detected in one carcinoma, but not in adenoma, from the same patient. Analyses of the amplified c-myc gene suggest that gene duplication may relate to the mechanism of gene amplification. Thus, the enhanced expression of c-myc gene in adenoma and carcinoma may reflect the proliferative activity, while the c-fos gene may be a prerequisite to stabilize the state of terminal differentiation of colonic epithelial cells.     

Paradoxical increase of visual impairment with punctal occlusion in a patient with mild dry eye

We report a paradoxical increase in visual impairment after punctal plug placement despite improvement in corneal epithelial damage caused by mild dry eye. Ocular higher-order aberrations (HOAs) were measured sequentially with a wavefront sensor before and after punctal plug insertion in a patient with mild dry eye. Although postblink HOAs tend to increase in normal subjects or patients with dry eye, after treatment there was a maximum spike in HOAs for a few seconds that decreased gradually. Excessive retention of tear film by punctal occlusion may cause inferosuperior asymmetrical distribution in precorneal tear-film thickness, possibly leading to slower wavefront on the inferior cornea and increased coma-like aberrations. Increased visual impairment might occur paradoxically despite improvement in the corneal epithelial damage caused by dry eye.     

Application of ultrasonography for blunt laryngo-cervical-tracheal injury

BACKGROUND: Bronchoscopy has been the gold standard for diagnosing blunt laryngo-cervical-tracheal injury (BLCTI); however, BLCTI is often undetected. Ultrasonography (US) is an indispensable tool in the field of critical care and traumatology, but has not been considered useful for evaluation of the airway. The aim of this study was to determine the usefulness of US in the diagnosis of BLCTI. METHODS: To determine the detectability of BLCTI by US, we use a model of cylindrical plastic with a protruding mass made of paste. The model was placed in a water bath and US (3.5-MHz probe) was used to try to detect the mass. RESULTS: We could detect the existence of the mass as a high echoic mass with strongly high echoic tail. We used four patients with BLCTIs whose sites of injury were confirmed by computed tomography (CT) and bronchoscopy. We evaluated the larynx and the cervical trachea as their outline of air in the cranial section near the sternal notch using a 3.5-MHz convex probe. The following US findings were compared with CT and bronchoscopic images as specific findings of BLCTI: discontinuity of the laryngo-cervical-tracheal wall and an abnormal mass protruding into the laryngo-cervical-tracheal lumen. Specific findings of BLCTI were detected in three of the four patients, whose sites of injury were the anterior or lateral side of the larynx or the cervical trachea. The site of injury of the remaining patient, where we detected no specific BLCTI findings, was the posterior wall of the larynx. CONCLUSIONS: US is useful for the diagnosis of BLCTI because it is capable of presenting specific images showing BLCTI features such as discontinuity of the laryngo-cervical-tracheal wall and abnormal masses protruding into the lumen; not only as a single diagnostic tool but one tool with many uses.     

THE ROLE OF HLA CLASS II ANTIGENS IN THE INDUCTION OF CYTOTOXIC T LYMPHOCYTES

Investigation of pairs of unrelated persons mismatched for a particular HLA-DQB1 or -DPB1 gene on the induction of cytotoxic T lymphocytes (CTL) revealed that HLA-DQ and HLA-DP antigens provided a slight proliferative stimulus which was, however, sufficient for the generation of CTL. Monomorphic anti-DQ and anti-DP monoclonal antibodies abrogated the induction of cytotoxic response. The results indicate that the HLA-DQ and HLA-DP antigens play a similar role to HLA-DR specificities in clinical bone marrow transplantation.     

Free radical scavenging and hepatoprotective actions of the medicinal herb, Crassocephalum crepidioides from the Okinawa Islands

Free radical scavenging and protective actions against chemically induced hepatotoxicity of Crassocephalum crepidioides were investigated. A water extract of C. crepidioides strongly scavenged superoxide anion, hydroxyl radical and also stable radical 1,1-diphenyl-2-picrylhydrazyl. Galactosamine (GalN, 400 mg/kg) and lipopolysaccharide (LPS, 0.5 microg/kg) induced hepatotoxicity of rats as seen by an elevation of serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) and of lipid peroxidation in liver homogenates was significantly depressed when the herbal extract was given intraperitoneally 1 and 15 h before GalN and LPS treatment. Similarly, carbon tetrachloride (CCl4) induced liver injury as evidenced by an increase in AST and ALT activities in serum was also inhibited by the extract pretreatment. Isochlorogenic acids, quercetin and kaempferol glycosides were identified as active components of C. crepidioides with strong free radical scavenging action. These results demonstrate that C. crepidioides is a potent antioxidant and protective against GalN plus LPS- or CCl4-induced hepatotoxicity.     

Validation of mortality risk stratification models for cardiovascular disease

Risk stratification models are effective tools for the management of cardiovascular diseases. Although several risk scores have been proposed, the relevance and superiority of these predictive models have not been fully validated in an independent and nonclinical trial-based population. We studied 2,472 consecutive patients initially hospitalized in our institution from April 2004 to December 2009. Risk scores were calculated for each patient using 4 risk score models, including the Seattle Heart Failure Model (SHFM), Acute Decompensated Heart Failure National Registry regression model, the American Heart Association Get With The Guidelines-Heart Failure score, and the Association of Health Aging and Body Composition Heart Failure score. The predictive ability for the composite end point, including total death, heart transplantation, and left ventricle assist device implantation, was assessed by calculating the area under the receiver operating characteristic curve for each model. During the follow-up period after admission (median 924.5 days), the combined end point occurred in 295 patients (11.8%), including 27 in-hospital deaths (1.1%). Compared with the other 3 risk score models, the SHFM risk score demonstrated a greater area under the curve for the combined end point at the overall, in-hospital, 30-day, and 1-, 2-, and 3-year follow-up point (0.741 to 0.890). The survival rate predicted by SHFM demonstrated an excellent correlation with the actual survival rate (R(2) = 0.990). In conclusion, these results suggest that the SHFM risk score is the most suitable for the discrimination and calibration of mortality risk stratification in patients with cardiovascular disease.