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We report a full-term male infant born to nonconsanguinous parents who had clinical features of Goldenhar syndrome and cri du chat syndrome. At birth, the infant was noted to have dysmorphic features with bilateral preauricular tags, rotated ears, bilateral epicanthic folds, a left epibulbar lipodermoid, and an accessory left nipple. After he was assessed for feeding difficulty and tachypnea, he was found to have esophageal atresia with tracheoesophageal fistula. In addition, he had a high-pitched, cat-like cry, characteristic of cri-du-chat syndrome. He also failed a hearing test. Chromosomal analysis and fluorescence in situ hybridisation studies showed an unbalanced karyotype with a terminal deletion of the segment p14 on the short arm of chromosome 5, which is consistent with the cri-du-chat locus. The association of Goldenhar syndrome and cri-du-chat syndrome in this patient suggests that the chromosome 5p14 locus may harbor a gene implicated with Goldenhar syndrome. 相似文献
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Seven cases of complex open humeral fractures treated by external fixation are reported. The external fixation allowed the associated injuries to nerves, arteries and soft tissues to be adequately treated. Four cases developed non-union and of these, three cases treated by bone-grafting and plating united, but the one case treated by intramedullary nail without bone-graft did not unite. Frame construction and pin placement are discussed. The recommended plan for treatment of these fractures is initial external fixation until adequate soft tissue healing is achieved and sepsis controlled. Then early bone-grafting and plating is advocated if there is no progressive fracture healing. The problems and advantages encountered in the use of external fixation are also described. 相似文献
5.
Sharon Mooney Nancy Tze Marie-France Juneau 《Journal for nurses in staff development》2004,20(4):170-176
In the fall of 2000, the licensing examination for nursing taken by candidates in the Province of Quebec was altered to include an oral practical component. This article describes how a group of nurse clinician educators, despite severe time and human resources constraints, developed a unique and interactive program to assist graduate unlicensed nurses to successfully prepare for this new examination process. 相似文献
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Kam KM Luey CK Tsang YM Law CP Chu MY Cheung TL Chiu AW 《Journal of clinical microbiology》2003,41(10):4502-4511
Two hundred twenty isolates of Vibrio cholerae O1 and O139 collected from 1994 to 2002 in Hong Kong were analyzed by pulsed-field gel electrophoresis (PFGE). Chromosomal DNAs from all V. cholerae isolates in agarose plugs were digested with the restriction enzyme NotI, resulting in 20 to 27 bands. Sixty distinctive PFGE patterns in the range of 10 to 300 kb were noted among 213 isolates typeable by PFGE. By comparing the common PFGE patterns obtained from four well-defined outbreaks of V. cholerae O1 and O139 with those obtained from other, epidemiologically unrelated isolates during the study period, indistinguishable and similar PFGE patterns were identified, indicating their close relatedness, in agreement with the results of epidemiological investigations. Heterogeneous PFGE patterns (with four to six banding differences), however, were identified among strains that were imported from other parts of Asia, including Indonesia, India, and Pakistan. Correlations with epidemiological information further support the usefulness of PFGE as an epidemiological tool in laboratory investigations of suspected outbreaks. Standardization of PFGE methodology will allow international comparison of fingerprint patterns and will form the basis of a laboratory network for tracking V. cholerae. 相似文献
8.
Identification of a Rough Strain of Escherichia coli O157:H7 That Produces No Detectable O157 Antigen 下载免费PDF全文
Peter Feng Robin C. Sandlin Choong H. Park Richard A. Wilson Mitsuaki Nishibuchi 《Journal of clinical microbiology》1998,36(8):2339-2341
MA6, an O157:H7-like strain, did not react with most anti-O157 kits examined; however, it had the rfbE gene that is essential for O157 expression and carried O157:H7 virulence factors. Lipopolysaccharide analysis showed that MA6 is a rough strain that does not produce the O157 antigen, but genetically, it belongs in the O157:H7 clonal group. 相似文献
9.
Molecular profiling of giant cell tumor of bone and the osteoclastic localization of ligand for receptor activator of nuclear factor kappaB 总被引:1,自引:0,他引:1 下载免费PDF全文
10.
Entry of genital Chlamydia trachomatis into polarized human epithelial cells. 总被引:3,自引:17,他引:3 下载免费PDF全文
P B Wyrick J Choong C H Davis S T Knight M O Royal A S Maslow C R Bagnell 《Infection and immunity》1989,57(8):2378-2389
To study the initial invasion process(es) of genital chlamydiae, a model system consisting of hormonally maintained primary cultures of human endometrial gland epithelial cells (HEGEC), grown in a polarized orientation on collagen-coated filters, was utilized. After Chlamydia trachomatis inoculation of the apical surface of polarized HEGEC, chlamydiae were readily visualized, by transmission electron microscopy, in coated pits and coated vesicles. This was true for HEGEC maintained in physiologic concentrations of estrogen (proliferative phase) and of estrogen plus progesterone (secretory phase), despite the finding that association of chlamydiae with secretory-phase HEGEC is significantly reduced (P = 0.025; A.S. Maslow, C.H. Davis, J. Choong, and P.B. Wyrick, Am. J. Obstet. Gynecol. 159:1006-1014, 1988). In contrast, chlamydiae were rarely observed in the clathrin-associated structures if the HEGEC were cultured on plastic surfaces. The same pattern of coated pit versus noncoated pit entry was reproducible in HeLa cells. The quantity of coated pits associated with isolated membrane sheets derived from HeLa cells, grown on poly-L-lysine-coated cover slips in medium containing the female hormones, was not significantly different as monitored by radiolabeling studies and by laser scanning microscopy. These data suggest that culture conditions which mimic in vivo cellular organization may enhance entry into coated pits for some obligate intracellular pathogens. 相似文献