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11.
Usher syndrome: clinical findings and gene localization studies 总被引:3,自引:0,他引:3
William J. Kimberling Sandra L. H. Davenport Ira Priluck Valorie White Karen Biscone-Halterman Patrick E. Brookhouser Claes G. Mller Gunnar Lund Timothy J. Grissom Michael D. Weston 《The Laryngoscope》1989,99(1):66-72
The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized. 相似文献
12.
Penny H Feldman Christopher M Murtaugh Liliana E Pezzin Margaret V McDonald Timothy R Peng 《Health services research》2005,40(3):865-886
OBJECTIVE: To assess the impact and cost-effectiveness of two information-based provider reminder interventions designed to improve self-care management and outcomes of heart failure (HF) patients. DATA SOURCES/STUDY SETTING: Interview and agency administrative data on 628 home care patients with a primary diagnosis of HF. STUDY DESIGN: Patients were treated by nurses randomly assigned to usual care or one of two intervention groups. The basic intervention was an e-mail to the patient's nurse highlighting six HF-specific clinical recommendations. The augmented intervention supplemented the initial nurse reminder with additional clinician and patient resources. DATA COLLECTION: Patient interviews were conducted 45 days post admission to measure self-management behaviors, HF-specific outcomes (Kansas City Cardiomyopathy Questionnaire-KCCQ), health-related quality of life (EuroQoL), and service use. PRINCIPAL FINDINGS: Both interventions improved the mean KCCQ summary score (15.3 and 12.9 percent, respectively) relative to usual care (p< or =.05). The basic intervention also yielded a higher EuroQoL score relative to usual care (p< or =.05). In addition, the interventions had a positive impact on medication knowledge, diet, and weight monitoring. The basic intervention was more cost-effective than the augmented intervention in improving clinical outcomes. CONCLUSIONS: This study demonstrates the positive impact of targeting evidence-based computer reminders to home health nurses to improve patient self-care behaviors, knowledge, and clinical outcomes. It also advances the field's limited understanding of the cost-effectiveness of selected strategies for translating research into practice. 相似文献
13.
Rapid prototype patient-specific drill template for cervical pedicle screw placement. 总被引:11,自引:0,他引:11
Brent D Owen Gary E Christensen Joseph M Reinhardt Timothy C Ryken 《Computer aided surgery》2007,12(5):303-308
OBJECTIVE: To assess the feasibility and accuracy of a drill template for the placement of a cervical pedicle screw in a single vertebral level. MATERIALS AND METHODS: A volumetric CT scan was performed on a cadaver cervical spine. Using computer software, a drill template with a predefined trajectory was constructed that was designed to match the posterior surface of the right side of the fifth cervical vertebra. A physical template was created from the computer model using a rapid prototyping machine. The drill template was used to guide drilling of a pilot hole, and a CT scan was performed to assess the accuracy of this hole. A 3.5-mm diameter pedicle screw was placed in the pilot hole. The spine was then dissected to separate the vertebrae and the trajectory of the screw was visually inspected. RESULTS: The feasibility of this patient-specific rapid prototyping technique was demonstrated. Imaging and visual inspection confirmed accurate placement of the pilot hole and cervical pedicle screw without cortical violation. CONCLUSIONS: The potential use of drill templates to place cervical pedicle screws is promising. Our initial methodology appears to provide an accurate technique and trajectory for pedicle screw placement in the cervical spine. 相似文献
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Children and adolescents who suffer traumatic injuries often seek emergency treatment at a Children's Hospital. Complex injuries to permanent teeth and their periodontium require immediate repositioning and stabilization. Many of these emergencies are treated by pediatric dental residents at the Women and Children's Hospital of Buffalo, Buffalo, New York. The purpose of this study was to characterize these complex injuries of permanent teeth that require emergency treatment in a Children's Hospital. All of the cases of dental trauma which had involved permanent teeth and which had been treated with a splint in 2001 and 2002 were reviewed. There were 79 patients that were between 5 and 19 years of age with twice as many males (54) as females (25). The number of males increased from childhood (5-10 years) to early adolescence (11-15 years) and then decreased rapidly in late adolescence (16-19 years), whereas the number of females decreased steadily with age. Most of the incidents occurred during the summer months (72%), particularly in June and July (42%), and Fridays and Saturdays were the busiest days of the week. Most of the injuries were caused by organized and recreational sporting activities (39%) and accidental falls (33%), followed by interpersonal violence (15%) and a few motor vehicle accidents (7%). The 173 permanent tooth injuries were mostly luxations (62%) or avulsions (20%), with only a few fractures of the alveolar bone (5%) or tooth root (1%). Most of the displacements were lateral luxations (40%) or extrusions (18%) with only a few intrusions (3%). These injuries most commonly afflicted the maxillary central incisors (54%), followed by the maxillary laterals (18%) and mandibular centrals (17%). The emergency treatment that was provided at the Children's Hospital included replantation and repositioning, and the placement of a semi-rigid or flexible splint. 相似文献
17.
Michelle L. DeOliveira Timothy M. Pawlik Ana L. Gleisner Lia Assumpcaom Gaspar J. Lopes-Filho Michael A. Choti 《Journal of gastrointestinal surgery》2007,11(8):970-976
Survival after resection of colorectal liver metastases has traditionally been associated with clinicopathologic factors.
We sought to investigate whether echogenicity of colorectal liver metastasis as assessed by intraoperative ultrasound (IOUS)
was a prognostic factor after hepatic resection. Prospective data on tumor IOUS appearance were collected in 84 patients who
underwent hepatic resection for colorectal liver metastasis. Images were digitally recorded, blindly reviewed, and scored
for echogenicity (hypo-, iso-, or hyperechoic). The median tumor number was 1 and the median tumor size was 5.0 cm. At the
time of surgery, the IOUS appearance of the colorectal liver metastases were hypoechoic in 35 (41.7%) patients, isoechoic
in 37 (44.0%) patients, and hyperechoic in 12 (14.3%) patients. Traditional clinicopathologic prognostic factors were similarly
distributed among the three echogenicity groups (all p > 0.05). Patients with a hypoechoic lesion had a significantly shorter median survival (30.2 months) compared with patients
who had either an isoechoic (53.2 months) or hyperechoic (42.3 months) lesion (p = 0.005). The 5-year survival after hepatic resection of colorectal liver metastasis was also associated with the echogenic
appearance of the lesion (hypoechoic 14.4 vs isoechoic 37.4 vs hyperechoic 46.2%) (p < 0.05). Intraoperative ultrasound echogenicity should be considered a prognostic factor after hepatic resection of metastatic
colorectal cancer.
This study was presented at the 47th annual meeting of The Society for Surgery of the Alimentary Tract, Los Angeles, CA, USA,
22 May 2006. 相似文献
18.
Timson C Appanna Shareen H Doak Spencer A Jenkins Howard G Kynaston Timothy P Stephenson James M Parry 《International journal of urology》2007,14(6):539-544
OBJECTIVE: Tumors arising within augmentation cystoplasties are aggressive, have poor prognosis and the majority are not detected at follow-up cystoscopy. Genetic changes in tumors precede morphological abnormalities. Therefore, the aim of this study was to investigate whether genetic abnormalities detected by comparative genomic hybridization (CGH) could be used to identify those patients with augmentation cystoplasties at increased risk of tumorigenesis. METHODS: Bladder biopsy samples were obtained from 16 augmentation cystoplasty patients both distant from and near to the enterovesical anastomosis. CGH was used to detect genetic abnormalities in DNA extracted from the biopsies, archival specimens of two augmentation cystoplasties and two de novo bladder adenocarcinomas. RESULTS: A greater number of amplifications on 2p, 3q, 8q, 9p, 17p, 18pq and 20pq, were observed in bladder biopsies obtained near to the enterovesical anastomosis compared to those taken distant to the suture line. CGH of archival augmentation cystoplasty tumor DNA indicated abnormalities at several loci with amplifications at 2q, 5q, 10p and 21pq, while deletions occurred at 5p and 16p. CONCLUSIONS: The results of this study suggest that the urothelium adjacent to the bladder and/or bowel anastomosis in augmentation cystoplasties is genetically unstable. Furthermore, longitudinal studies are required to establish whether or not patients exhibiting genetic instability following augmentation cystoplasty are at greater risk of developing tumors than those with genetically stable epithelia. 相似文献
19.
Donald B. Penzien PhD ; Frank Andrasik PhD ; Brian M. Freidenberg PhD ; Timothy T. Houle PhD ; Alvin E. Lake III PhD; Gay L. Lipchik PhD ; Kenneth A. Holroyd PhD ; Richard B. Lipton MD ; Douglas C. McCrory MD ; Justin M. Nash PhD ; Robert A. Nicholson PhD ; Scott W. Powers PhD ABPP ; Jeanetta C. Rains PhD ; David A. Wittrock PhD 《Headache》2005,45(S2):S110-S132
Guidelines for design of clinical trials evaluating behavioral headache treatments were developed to facilitate production of quality research evaluating behavioral therapies for management of primary headache disorders. These guidelines were produced by a Workgroup of headache researchers under auspices of the American Headache Society. The guidelines are complementary to and modeled after guidelines for pharmacological trials published by the International Headache Society, but they address methodologic considerations unique to behavioral and other nonpharmacological treatments. Explicit guidelines for evaluating behavioral headache therapies are needed as the optimal methodology for behavioral (and other nonpharmacologic) trials necessarily differs from the preferred methodology for drug trials. In addition, trials comparing and integrating drug and behavioral therapies present methodological challenges not addressed by guidelines for pharmacologic research. These guidelines address patient selection, trial design for behavioral treatments and for comparisons across multiple treatment modalities (eg, behavioral vs pharmacologic), evaluation of results, and research ethics. Although developed specifically for behavioral therapies, the guidelines may apply to the design of clinical trials evaluating many forms of nonpharmacologic therapies for headache. 相似文献
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