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Antony E. Shrimpton Robert L. Schelper Reinhold P. Linke John Hardy Richard Crook Dennis W. Dickson Takashi Ishizawa Richard L. Davis 《Neuropathology》2007,27(3):228-232
Over 100 mutations in the presenilin‐1 gene (PSEN1) have been shown to result in familial early onset Alzheimer disease (EOAD), but only a relatively few give rise to plaques with an appearance like cotton wool (CWP) and/or spastic paraparesis (SP). A family with EOAD, seizures and CWP was investigated by neuropathological study and DNA sequencing of the PSEN1 gene. Aβ was identified in leptomeningeal vessels and in cerebral plaques. A single point mutation, p.L420R (g.1508T > G) that gives rise to a missense mutation in the eighth transmembrane (TM8) domain of PS1 was identified in two affected members of the family. p.L420R (g.1508T > G) is the mutation responsible for EOAD, seizures and CWP without SP in this family. 相似文献
3.
Esophageal foreign body causing direct aortic injury. 总被引:4,自引:0,他引:4
Foreign bodies in the esophagus are uncommon causes of esophageal perforation. Many nonperforating cases are successfully managed by flexible gastroscopy. However, complicated foreign bodies such as those that result in esophageal perforation and vascular injury are best managed surgically. Gastroscopy remains the primary method of diagnosis. A case of a 59-year-old woman who developed retrosternal and intrascapular pain, odynophagia and hematemesis after eating fish is reported. Flexible gastroscopy showed arterial bleeding from the midthoracic esophagus. Computed tomography scan localized a 3 cm fish bone perforating the esophagus with surrounding hematoma. An aortogram did not reveal an actively bleeding aortoesophageal fistula. The fish bone was surgically removed and the patient recovered with no postoperative complications. This case illustrates the importance of early consideration for surgical intervention when confronted with a brisk arterial bleed from the esophagus with suggestive history of foreign body ingestion. 相似文献
4.
Elhaji Youssef A.; Stoica Ileana; Dennis Sheldon; Purisima Enrico O.; Lumbroso Rose; Beitel Lenore K.; Trifiro Mark A. 《Human molecular genetics》2006,15(9):1561
Human Molecular Genetics (2006) 15, 921931; 相似文献
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Physiologic mechanism and preoperative prediction of new-onset dysphagia after laparoscopic Nissen fundoplication 总被引:2,自引:0,他引:2
Dennis Blom M.D. Jeffrey H. Peters M.D. Tom R. DeMeester M.D. Peter F. Crookes M.D. Jeffrey A. Hagan M.D. Steven R. DeMeester M.D. Cedric Bremner M.D. 《Journal of gastrointestinal surgery》2002,6(1):22-28
The aim of this study was to determine whether preoperative physiologic factors can account for and be used to predict the
development of postoperative dysphagia after laparoscopic Nissen fundoplication. One hundred sixty-three patients with gastroesophageal
reflux disease underwent laparoscopic Nissen fundoplication with a median follow-up of 14 months (range 6 to 81 months). Preoperative
dysphagia was present in 37% (60 of 163) and was relieved in all but five patients (92%). Female sex (P = 0.01) and the presence of a stricture (P = 0.02) were the only preoperative variables associated with the presence of preoperative dysphagia. Eight percent (8 of
103) of patients without preoperative dysphagia developed new-onset dysphagia, and of these 63% (5 of 8) had a normal lower
esophageal sphincter (LES) (pressure >6 mm Hg; length >2 cm; abdominal length >1 cm). New-onset dysphagia was significantly
more common in patients with a normal LES (22% [5 of 23] vs. 4% [3 of 80], P = 001). Patients with a normal LES had almost a sixfold increase in the risk of developing dysphagia as those with an abnormal
LES (relative risk = 5.8). Only a preoperative normal LES (P = 0.02) or mean LES pressures (P = 0.04) were positively associated with the development of postoperative dysphagia. The severity of this dysphagia also showed
a strong positive trend of increasing with mean preoperative LES pressures (P = 0.07). Finally, preoperative LES pressure significantly correlated with postoperative LES pressure (r = 0.48, P = 0.01) and with mean residual LES (nadir) pressure (r = 0.33, P = 0.05) offering insight into the mechanism of this dysphagia. In conclusion, preoperative LES parameters play a role in
the development of dysphagia after laparoscopic Nissen fundoplication. Patients with a normal LES or high mean LES pressures
are at increased risk for developing this complication and should be informed of this before laparoscopic Nissen fundoplication.
Presented at the Forty-Second Annual Meeting of The Society for Surgery of the Alimentary Tract, Atlanta, Ga., May 20–23,
2001. 相似文献
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Angela Bryan Reuben N Robbins Monica S Ruiz Dennis O'Neill 《Health education & behavior》2006,33(2):154-177
Prisons and prison inmates present important targets for HIV/AIDS prevention interventions. Inmates often have histories of high-risk behavior that place them in danger of contracting HIV/AIDS, and rates of HIV/AIDS tend to be much higher in this population. The goal of this study was to assess the effectiveness of a prison-based HIV/AIDS intervention to change attitudes toward HIV prevention, norms supporting HIV prevention, perceived behavioral control (i.e., self-efficacy) for HIV prevention behaviors, and intentions to engage in HIV prevention behaviors postrelease. The intervention also had the goal of encouraging inmates to become HIV/AIDS peer educators. The intervention appeared most successful at influencing beliefs and behaviors related to peer education and somewhat successful at influencing beliefs and intentions related to condom use. Analyses also showed some significant differences in effectiveness by race/ethnicity. Results are discussed from the perspectives of both research and practice with regard to prison-based HIV prevention efforts. 相似文献
10.