Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) with congenital facial nerve palsy

Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. In this report, a case of a male infant, with the features of hemi facial microsomia, anotia, vertebral anomalies, congenital facial nerve palsy and lagophthalmos is described. Although the syndrome itself is not uncommon, the presence of congenital facial nerve palsy, which has been reported in rare cases, prompted this case report.     

Jitter analysis utilizing a high speed FM tape recorder

Jitter analysis in single fiber EMG (SFEMG) is usually done on-line during recording. However, this technique frequently prolongs the study and makes re-analysis impossible. We attempted to measure jitter with a high speed FM tape recorder and compare the results with the previously published values. SFEMG data, acquired with voluntary activation on extensor digitorum communis muscle of 25 healthy relatives of children with myasthenia gravis were retrospectively analyzed. Fiber density (FD) was estimated on-line. Five to 18 single fiber action potential (SFAP) pairs were studied in each subject. The wow of the tape recorder was 6 microseconds. Mean (SD) (upper 95th percentile) FD, individual jitter, highest jitter, mean jitter and interspike interval were 1.60 (0.18) (1.90), 25.30 (11.20) (57.00) microseconds, 31.24 (6.87) (47.00) microseconds, 25.08 (5.04) (43.00) microseconds, and 0.67 (0.11) (0.91) ms respectively. Mean jitter in the pooled SFAP pairs and mean MCD were found to be lower than the published values of the Ad Hoc Committee of the AAEM Special Interest Group on Single Fiber EMG. A high speed FM tape recorder can be reliably used for the off-line analysis of jitter.     

Pancreatobiliary adenosquamous carcinoma (report of two cases)

Adenosquamous carcinomas are rare malignant tumors of the pancreas and periampullary region. We present two cases of pancreatic and periampullary adenosquamous carcinoma with clinicopathologic, histo- and immunohistochemical findings. A 51-year-old and a 48-year-old man presented with right upper quadrant pain of three months duration and jaundice for two weeks. Both cases had an elevation of liver enzymes and CA 19-9. In the first case, computerized tomography showed a 3 cm-mass at the pancreatic head. In the second one, endoscopic retrograde choledocopancreatography (ERCP) revealed a mass at the ampulla Vateri localization. A pancreatoduodenectomy was performed for both cases. Gross pathologic examination displayed a solid, gray-white colored 4 cm-tumor at the pancreatic head and a solid, pink-white colored, 2 cm-tumor at the periampullary region bulging into the duodenal lumen. Microscopically, both tumors were composed of solid nests of squamous cells with pearl formation and mucin-containing glandular cells and diagnoses were adenosquamous carcinoma. Furthermore, histo- and immunohistochemical findings were consistent with microscopic diagnoses.     

人KIR2DL1-Ig融合蛋白在COS-7细胞的表达

目的：获得人KIR2DL1分子(killer lg—like receptor 2DL1)胞外区与人IgG Fc段的融合蛋白。方法：从人外周血单个核细胞中提取总RNA，通过RT—PCR扩增编码KIR2DL1胞外段cDNA，经Nhe Ⅰ和BamH Ⅰ双酶切后，定向插入真核细胞表达载体CD51negl中。构建的重组真核表达载体CD51negl—KIR2DL1。经酶切分析和测序鉴定后，通过DEAE—dextran／ehloroquine法转染COS—7细胞：瞬时表达后，取培养上清液经亲和层析、ELISA、SDS—PAGE及Western印迹，鉴定融合蛋白的表达及其免疫学活性。结果：序列测定证实，该重组表达载体含有正确的KIR2DL1胞外区基因序列。重组真核表达载体CD5lnegl—KIR2DL1转染COS—7细胞后，ELISA法检测细胞培养上清中有融合蛋白的表达。SDS—PAGE结果显示，该融合蛋白的相对分子质量(Mc)约为73000。Western印迹结果证实，该蛋白能被特异性单克隆抗体(mAb)EB6所识别。结论：KIR2DL1—Ig融合蛋白表达载体成功构建并在COS—7细胞中获得功能性表达，为KIR2DL1的功能及其配体MHC的研究奠定了基础。     

Expression of P fimbriae of uropathogenic Escherichia coli strains

The occurrence of P fimbriae in a total of 222 uropathogenic Escherichia coli (UPEC) strains was investigated. Out of the total, 31 (14%) were P fimbriated. Of 24 pyelonephritogenic E. coli strains, three (13%) with P fimbriae occurred in children with clinical pyelonephritis, and of 198 E. coli strains 29 (15%) occurred in children with cystitis. Prevalence of P fimbriae of E. coli strains was found to be quite similar in patients with cystitis and pyelonephritis     

Clinicopathologic evaluation of CDw75 antigen expression in patients with gastric carcinoma

Situated on mature B lymphocytes, CDw75 antigen is a sialylated carbohydrate epitope generated by the enzyme beta-galactosyl alpha-2,6-sialyltransferase. Although CDw75 antigen expression was found to be correlated with aggressive behaviour of tumour cells in gastric adenocarcinomas, its prognostic role still remains unknown. The objective of this study was to determine the value of CDw75 antigen expression as a marker of the metastatic potential and prognosis of gastric adenocarcinomas. CDw75 antigen expression was evaluated immunohistochemically in 64 tumours and their nodal metastases. The correlation was analysed between CDw75 antigen expression and selected clinicopathological variables, including survival. Positive staining was detected in 31 cases. Non-neoplastic gastric mucosa was consistently negative. CDw75 expression was correlated with larger tumour size (p<0.006), infiltrative growth pattern (p<0.044), advanced stage (p<0.0006), and positive lymph nodes (p<0.0003).The overall survival rate of patients with CDw75 expression was 28%, which was significantly worse than that of patients without CDw75 expression (53%) (p<0.0005). Multivariate analysis showed that CDw75 expression was an independent prognostic indicator, together with the growth pattern of the tumour. These results indicate that immunohistochemical detection of CDw75 antigen expression may be a good indicator of metastatic potential and of prognosis in patients with gastric carcinomas.     

The distribution of HLA-DRB alleles in ulcerative colitis patients in Turkey

Recently described distinct associations of HLA class II genes with ulcerative colitis (UC) suggest a genetic heterogeneity for disease susceptibility. In this study, HLA-DRB alleles of UC patients (n = 59) from Turkey were investigated and compared with healthy controls (n = 244). Using molecular genotyping by polymerase chain reaction (PCR) and sequence-specific oligonucleotide hybridization, we have shown a positive association of UC patients with the HLA-DRB1*1502 allele (10/59 vs. 16/244; P = 0.02; OR: 2.9) and a negative association with the DRB1*13 allele (7/59 vs. 64/244; P = 0.03; OR: 0.38) compared to controls. HLA-DRB1*0701 was significantly increased in perinuclear antineutrophil cytoplasmic antibody (pANCA)-positive UC patients compared to pANCA-negative patients (8/32 vs. 0/27; P = 0.005), whereas DRB1*1502 was observed more frequently in pANCA-negative patients (8/27 vs. 2/32; P = 0.03). These results extended the reported positive association of DRB1*1502 with UC to another population and supported the genetic susceptibility associated with HLA genes for disease development.     

Fatal avian influenza A (H5N1) in a child presenting with diarrhea followed by coma

In southern Vietnam, a four-year-old boy presented with severe diarrhea, followed by seizures, coma, and death. The cerebrospinal fluid contained 1 white cell per cubic millimeter, normal glucose levels, and increased levels of protein (0.81 g per liter). The diagnosis of avian influenza A (H5N1) was established by isolation of the virus from cerebrospinal fluid, fecal, throat, and serum specimens. The patient's nine-year-old sister had died from a similar syndrome two weeks earlier. In both siblings, the clinical diagnosis was acute encephalitis. Neither patient had respiratory symptoms at presentation. These cases suggest that the spectrum of influenza H5N1 is wider than previously thought.