Possible difficult laryngoscopy caused by masticatory muscle tendon-aponeurosis hyperplasia: we anesthesiologists should be aware of this disease

Masticatory muscle tendon-aponeurosis hyperplasia (MMTAH) is a new disease entity characterized by limited mouth opening due to contracture of the masticatory muscles resulting from hyperplasia of tendons and aponeuroses. The other clinical feature is that the face of the patient with this disease displays a square mandible configuration. Muscle relaxants provide no relief for the limited mouth-opening ability. Anesthesiologists need to suspect difficult airway when patients have limited mouth opening with square mandible configuration. MMTAH can therefore be a possible cause of difficult intubation.     

HLA‐C*12:02 is a susceptibility factor in late‐onset type of psoriasis in Japanese

Psoriasis is thought to be a multifactorial disease triggered by both genetic and environmental factors. The HLA‐C locus on chromosome 6p21.33 remains the strongest susceptibility candidate locus in psoriasis. The strong association between psoriasis and the HLA‐Cw6 allele has been well documented in various races. It is known that psoriatic patients with early onset are more likely to be familial and associated with HLA‐Cw6. Familial occurrence of Japanese psoriasis is smaller than other populations. Furthermore, males are predominant over females in Japanese psoriasis. We investigated the relation between HLA‐C alleles and age of onset, and in each gender for Japanese psoriasis, and discuss male predominance in the incidence of psoriasis in Japan. Four hundred forty six unrelated Japanese patients with psoriasis vulgaris and 557 sex‐ and age‐matched unrelated Japanese healthy controls were investigated by genotyping. We confirmed the association between early‐onset type of psoriasis with HLA‐C*06:02 allele in Japanese. In addition, we detected the association between the late‐onset type of psoriasis and the HLA‐C*12:02 allele in Japanese. No significant differences in allele frequency were observed between females and males. Our results suggest that there is no genetic factor effect on male predominance in Japanese. In contract, the effect of environmental risk factors on the onset of Japanese psoriatic patients is stronger in males than in females. As a result, male predominant in psoriasis may occur in Japan.     

Aberrant crypt foci as precursors of the dysplasia-carcinoma sequence in patients with ulcerative colitis

PURPOSE: Long-standing ulcerative colitis (UC) predisposes patients to the development of colorectal cancer, but surveillance of colitis-associated cancer by detecting the precancerous lesion dysplasia is often difficult because of its rare occurrence and normal-looking appearance. In sporadic colorectal cancer, aberrant crypt foci (ACF) have been reported by many investigators to be precursor lesions of the adenoma-carcinoma sequence. In the present study, we analyzed the genetic background of ACF to determine whether they could be precursors for dysplasia, and we examined the usefulness of endoscopic examination of ACF as a surrogate marker for surveillance of colitis-associated cancer. EXPERIMENTAL DESIGN: ACF were examined in 28 UC patients (19 patients with UC alone and 9 patients with UC and dysplasia; 2 of those patients with dysplasia also had cancer) using magnifying endoscopy. K-ras, APC, and p53 mutations were analyzed by two-step PCR RFLP, in vitro--synthesized protein assay, and single-strand conformation polymorphism, respectively. Methylation of p16 was analyzed by methylation-specific PCR. RESULTS: ACF that appeared distinct endoscopically and histologically were identified in 27 out of 28 UC patients. They were negative for K-ras, APC, and p53 mutations but were frequently positive for p16 methylation (8 of 11; 73%). In dysplasia, K-ras and APC mutations were negative but p53 mutation (3 of 5; 60%) and p16 methylation (3 of 5; 60%) were positive. There was a significant stepwise increase in the number of ACF from patients with UC alone to patients with dysplasia and to patients with cancer. Univariate and multivariate analyses showed significant correlations between ACF and dysplasia. CONCLUSIONS: We have disclosed an ACF-dysplasia-cancer sequence in colitis-associated carcinogenesis similar to the ACF-adenoma-carcinoma sequence in sporadic colon carcinogenesis. This study suggests the use of ACF instead of dysplasia for the surveillance of colitis cancer and warrants further evaluation of ACF as a surveillance marker in large-scale studies.     

Feasibility study of glass dosimeter postal dosimetry audit of high-energy radiotherapy photon beams.

INTRODUCTION: The characteristics of a glass dosimeter were investigated for its potential use as a tool for postal dose audits. Reproducibility, energy dependence, field size and depth dependence were compared to those of a thermoluminescence dosimeter (TLD), which has been the major tool for postal dose audits worldwide. MATERIALS AND METHODS: A glass dosimeter, GD-302M (Asahi Techno Glass Co.) and a TLD, TLD-100 chip (Harshaw Co.) were irradiated with gamma-rays from a (60)Co unit and X-rays from a medical linear accelerator (4, 6, 10 and 20 MV). RESULTS: The dosimetric characteristics of the glass dosimeter were almost equivalent to those of the TLD, in terms of utility for dosimetry under the reference condition, which is a 10 x 10 cm(2) field and 10 cm depth. Because of its reduced fading, compared to the TLD, and easy quality control with the ID number, the glass dosimeter proved to be a suitable tool for postal dose audits. Then, we conducted postal dose surveys of over 100 facilities and got good agreement, with a standard deviation of about 1.3%. CONCLUSIONS: Based on this study, postal dose audits throughout Japan will be carried out using a glass dosimeter.     

Gastric carcinosarcoma presenting as a huge epigastric mass

Gastric carcinosarcoma often presents with an elevated lesion or increased thickness of the stomach wall. Histological diagnosis is achieved using conventional hematoxylin and eosin staining to confirm the coexistence of both epithelial and mesenchymal elements. We report a case of gastric carcinosarcoma presenting as a large mass in the epigastric region. Specimens obtained by endoscopic biopsy and surgical excision showed diffuse proliferation of atypical cells in sheet formation. No mucus production or glandular structures were apparent, but immunoreactivity for both epithelial and mesenchymal markers was noted. These findings led to a definitive diagnosis of gastric carcinosarcoma. Immunohistochemical analysis is useful for the early diagnosis and treatment of gastric carcinosarcoma.     

Plasma endothelin-1 levels depress optic nerve head circulation detected during the glucose tolerance test

Purpose To determine the relationship between the changes in optic nerve head (ONH) circulation and the level of plasma endothelin-1 (ET-1) during the glucose tolerance test (GTT). Methods Twenty-six healthy volunteers with normal GTT and 15 patients with mild hyperglycemia and abnormal GTT were studied. The ONH circulation [square blur rate (SBR) value], blood pressure, intraocular pressure (IOP), blood glucose, blood insulin and plasma ET-1 were determined before and every hour up to 3 h after an oral intake of 75 g of glucose. Results The SBR increased in the normal glucose tolerance group at all times during the GTT, but it decreased significantly in the abnormal glucose tolerance group (P < 0.05). Before the GTT, the plasma ET-1 level was not significantly different in the two groups; however, the level increased 1 h after the oral GTT in the abnormal glucose tolerance group (P < 0.05). No significant changes were observed in mean blood pressure or IOP. Conclusions ONH circulation increased after glucose intake in the normal glucose tolerance group and remained high even after the blood glucose level had returned to its baseline. The decrease in ONH circulation in the abnormal glucose tolerance group was attributed partly to the increased ET-1.     

Mutations in the Nijmegen breakage syndrome gene in medulloblastomas

PURPOSE: Cerebellar medulloblastoma is a highly malignant, invasive embryonal tumor with preferential manifestation in children. Nijmegen breakage syndrome (NBS) with NBS1 germ-line mutations is a rare autosomal recessive disease with clinical features that include microcephaly, mental and growth retardation, immunodeficiency, increased radiosensitivity, and predisposition to cancer. There may be functional interactions between NBS1 and the TP53 pathways. The objective of the present study is to assess whether NBS1 mutations play a role in the pathogenesis of sporadic medulloblastomas. EXPERIMENTAL DESIGN: Forty-two cases of medulloblastomas were screened for mutations in the NBS1 gene (all 16 exons) and the TP53 gene (exons 5-8) by single-stranded conformational polymorphism followed by direct DNA sequencing. RESULTS: Seven of 42 (17%) medulloblastomas carried a total of 15 NBS1 mutations. Of these, 10 were missense point mutations and 5 were intronic splicing mutations. None of these were reported previously as germ-line mutations in NBS patients. No NBS1 mutations were detected in peritumoral brain tissues available in two patients. Of 5 medulloblastomas with TP53 mutations, 4 (80%) contained NBS1 mutations, and there was a significant association between TP53 mutations and NBS1 mutations (P = 0.001). CONCLUSIONS: We provide evidence of medulloblastomas characterized by NBS1 mutations typically associated with mutational inactivation of the TP53 gene.     

Cross‐sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer

The prevalence of BRCA1/2 germline mutations in Japanese patients suspected to have hereditary breast/ovarian cancer was examined by a multi‐institutional study, aiming at the clinical application of total sequencing analysis and validation of assay sensitivity in Japanese people using a cross‐sectional approach based on genetic factors estimated from personal and family histories. One hundred and thirty‐five subjects were referred to the genetic counseling clinics and enrolled in the study. Full sequencing analysis of the BRCA1/2 gene showed 28 types of deleterious mutations in 36 subjects (26.7%), including 13 types of BRCA1 mutations in 17 subjects (12.6%) and 15 types of BRCA2 mutations in 19 subjects (14.1%). Subjects were classified into five groups and 22 subgroups according to their personal and family history of breast and/or ovarian cancer, and the prevalence of deleterious mutations was compared with previously reported data in non‐Ashkenazi individuals. Statistical analysis using the Mantel‐Haenszel test for groups I through IV revealed that the prevalence of Japanese subjects was significantly higher than that of non‐Ashkenazi individuals (P = 0.005, odds ratio 1.87, 95% confidence interval 1.22–2.88). Family history of the probands suffering from breast cancer indicated risk factors for the presence of deleterious mutations of BRCA1/2 as follows: (1) families with breast cancer before age 40 within second degree relatives (P = 0.0265, odds ratio 2.833, 95% confidence interval 1.165–7.136) and (2) families with bilateral breast cancer and/or ovarian cancer within second degree relatives (P = 0.0151, odds ratio 2.88, 95% confidence interval 1.25–6.64). (Cancer Sci 2008; 99: 1967–1976)