Spinocerebellar ataxia type 6(SCA6)is a group of autosomal dominant hereditary diseases characterized by cerebellar ataxia,with the typical feature of genetic anticipation.This study reports a family case of SCA6 to enhance understanding of the disease and improve clinical diagnosis rate.The patient was a 61-year-old male,presented mainly with slurred speech and unsteady gait,accompanied by dizziness,choking on drinking water,numbness of limbs,and insomnia.Evoked potential,nerve conduction studies,skin sympathetic responses,electroencephalogram,dementia rating scale,and other tests showed no significant abnormalities.Head MRI revealed marked cerebellar atrophy,and genetic testing confirmed SCA6.His father exhibited similar symptoms,while his daughter was a carrier of the abnormal gene.The patient received treatment including nutritional support,improvement of ataxia,and rehabilitation training.After a one-year follow-up,there was no significant progression of the disease.

Spinocerebellar ataxia type 6(SCA6)is a group of autosomal dominant hereditary diseases characterized by cerebellar ataxia,with the typical feature of genetic anticipation.This study reports a family case of SCA6 to enhance understanding of the disease and improve clinical diagnosis rate.The patient was a 61-year-old male,presented mainly with slurred speech and unsteady gait,accompanied by dizziness,choking on drinking water,numbness of limbs,and insomnia.Evoked potential,nerve conduction studies,skin sympathetic responses,electroencephalogram,dementia rating scale,and other tests showed no significant abnormalities.Head MRI revealed marked cerebellar atrophy,and genetic testing confirmed SCA6.His father exhibited similar symptoms,while his daughter was a carrier of the abnormal gene.The patient received treatment including nutritional support,improvement of ataxia,and rehabilitation training.After a one-year follow-up,there was no significant progression of the disease.

Objective The purpose of this paper is to study the variations of the bone conduction hearing in the patients with chronic suppurative otitis media complicated by bone conduction deterioration after tympanoplasty and to analyze the relative factors. Methods In 54 cases (61 ears) of decreased bone conduction thresholds associat-ed with chronic suppurative otitis media, reviewed retrospectively were the data before the operation and during the follow-ups from 3 to 27 months. The bone conduction thresholds at 0. 5,1, 2 and 4 kHz were studied in relation to the courses of disease, the complications of cholesteatoma, the operation procedures and the reconstructions of os-sicular chains before and after surgeries. Results Before operation the most obvious hearing loss of bone conduction was found at 4 kHz in 61 ears, while after operation the average bone conduction hearing at the 4 frequencies was improved at different degrees with the most at 2 k Hz. Thirty-two of 61 cases (52.50%) were found to have their hearing improved at least by more than 10 dE at two frequencies without any deterioration at the 4 frequencies. Con-clusion The factors of the duration of disease and complications of cholesteatoma are obviously not related to the improvement of hearing after operation. A patient with reconstruction of ossicular chain is markedly superior to one without the reconstruction in improvement of hearing. When the auditory ossicular chains and functions of the oval and/or round windows are damaged, the bone conduction hearing can be affected accordingly. However the hearing of some cases will be improved after tympanoplasty. Also, the possible improvement is also related to different sur-geries in treating patients with middle ear infections.

Objective To evaluate the value of 99mTc-Octreotide somatostatin receptor and 99mTc-MIBI imaging in the detection of breast cancer. Methods 99mTc-Octreotide and 99mTc-MIBI imaging were performed in 26 patients with breast masses before operation. The scintigraphy results were analysed compared with pathologic study.Results The sensitivity, specificity and accuracy of 99mTc-Octreotide scintigraphy for breast cancer were 94.4%, 87.5%and 92.3%respectively and those of 99mTc-MIBI were 88.9%, 75.0%and 84.6%respectively. Significant difference was found between 99mTc-Octreotide and 99mTc-MIBI in both of specificity and accuracy (P

Objective To analyze the influence of Helicobacter pylori (H.pylori) and smoking on serum pepsinogen (PG) levels in gastric adenocarcinoma (GAC).Methods Serum PGⅠand PGⅡ levels were measured by using radioimmunoassay method;H.pylori infection was determined by Hp-IgG antibodies in stored serum samples by using enzyme-linked immunosorbent assay and 14C urea breath test.Results In H.pylori negative cases,the serum PGⅠmean level in current smoking GACs was significantly increased compared with those non-smoking or ever-smoking GACs (the former:t=2.709,P

Objective To probe into the association between the polymorphisms of HLA DRB1, DQB1 alleles and esophageal squamous cell carcinomas and then to further examine the features of their immunogenetics. Methods The polymorphisms of HLA DRB1, DQB1 alleles were typed by sequence specific primer based on polymerase chain reaction in 42 patients with esophageal squamous cell cancer and 136 normal control subjects. Results Allele frequency of HLA DRB1 *0901 allele was significantly higher in esophageal cancer patients than that in normal controls ( 0.250 0 vs 0.139 7 , P = 0.028 , odd ratio= 2.053 , etiologic fraction= 0.128 2 ) and so was allele frequency of HLA DQB1 * 0301 ( 0.297 6 vs 0.187 5 , P = 0.046 , odd ratio 1.835 , etiologic fraction 0.135 4 ). There was no association between the rested alleles of HLA DRB1 and DQB1 alleles in the patients. Conclusions Individuals carrying HLA DRB1 * 0901 and/or DQB1 * 0301 may be susceptible to esophageal squamous cell carcinoma, and nucleotide sequences of these two alleles were in accordance with the corresponded allele sequence (exon 2) of genebank.

Objective It has been known that cyclooxygenase-2(COX-2) acts as a tumor promoter in rodent models for colorectal cancer, but its precise role in the processes of carcinogenesis remains unclear. The study was designed to observe the relationship between expression of COX and the expression of vascular endothelial growth factor (VEGF) in the mouse embryo fibroblast (MEF) with knock out of COX-1 gene (COX-1 -/- ) or COX-2 gene (COX-2 -/- ) and wild MEF cells (COX-1 +/+ /COX-2 +/+ ). Methods We cultured the mouse embryo fibroblasts, measured the VEGF levels in the culture medium of these cells using ELISA, and extracted mRNA from these cells to identify the expressions of VEGF isoforms by RT-PCR. Results VEGF level could hardly be measured in the COX 2-deficient cells (COX-2 -/- ), however, the VEGF level was significantly increased in the cells with COX-2 gene (COX-2 +/+ ) and decreased by celecoxib, a COX-2 inhibitor. The level of VEGF was not associated with COX-1 expression. COX-2 inhibited the expressions of three isoforms of VEGF at mRNA level. Conclusions COX-2 plays an important role in the VEGF secretion and synthesis and therefore, it has an effect on the angiogenesis and tumor growth.

Objective To investigate the expression of inducible nitric oxide synthase (iNOS) in human gastric carcinoma and its relationship with angiogenesis, lymph nodes metastasi s and clinical staging of gastric carcinoma. Methods The expression of iNOS in 50 patients with gastric carcinoma was studied with im munohistochemical method. Microvessel density (MVD) of human gastric carcinoma was also determined with anti-CD34 as the labelled vascular endothelial cells. Results The rate of expression of iNOS in 50 cases of gastric carcinoma was 70.0% , and MVD averaged 22.0?9.8, higher than those in the tissues around cancer (16 .2%,6.1?3.4) and normal gastric tissues (15.0%,5.5?2.6; P