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991.
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest 总被引:8,自引:0,他引:8
Johnson EW; Dubovsky J; Rich SS; O'Donovan CA; Orr HT; Anderson VE; Gil-Nagel A; Ahmann P; Dokken CG; Schneider DT; Weber JL 《Human molecular genetics》1998,7(1):63-67
Febrile convulsions are a common form of childhood seizure. It is estimated
that between 2 and 5% of children will have a febrile convulsion before the
age of 5. It has long been recognized that there is a significant genetic
component for susceptibility to this type of seizure. Wallace, Berkovic and
co-workers recently reported linkage of a putative autosomal dominant
febrile convulsion gene to chromosome 8q13-21. We report here another
autosomal dominant febrile convulsion locus on chromosome 19p. Linkage
analysis in this large multi- generational family gave a maximum pairwise
lod score of 4.52 with marker Mfd120 at locus D19S177. Linkage to the
chromosome 8 locus was excluded in this family. Haplotype analysis using
both affected and unaffected family members indicates that this febrile
convulsion gene, which we call FEB2 , can be localized to an 11.7 cM, 1-2
Mb section of chromosome 19p13.3, between loci D19S591 and D19S395.
相似文献
992.
AM Pedersen J. Reibel H. Nordgarden HO Bergem JL Jensen B. Nauntofte 《Oral diseases》1999,5(2):128-138
OBJECTIVE: To evaluate salivary gland function, saliva composition and oral findings in patients with primary Sjogren's syndrome (pSS) subdivided into patients with and without focus score ≤1 (FS) and/or antibodies to SSA/SSB (AB) as well as in healthy controls. SUBJECTS AND METHODS: Unstimulated (UWS) and chewing stimulated (SWS) whole saliva, and stimulated parotid saliva (SPS) were collected in 16 patients fulfilling the European classification criteria for pSS subdivided into those with FS and/or AB (n= 8) and those without FS and AB (n= 8), and in age-matched (n= 14) and young healthy controls (n= 13).UWS and SWS were analysed for Na+ and K+.SPS was analysed for Na+, K+, statherin, and proline-rich proteins (PRPs).Sicca symptoms, DMFT/DMFS, plaque (PI) and gingival (GI) scores, periodontal pocket depth (PPD), and mucosal status were recorded. RESULTS: The young healthy controls had lower UWS as compared to the aged controls (P= 0.03).However, the aged controls had higher DMFT/DMFS (P < 0.001) and PI, GI and PPD (P < 0.01).Patients with FS and/or AB generally had lower saliva secretory rates than patients without FS and/or AB (P= 0.01 for UWS and SPS) and age-matched healthy controls (P= 0.001). There was no significant difference in the content of Na+ and K+, statherin and PRPs between groupS. Patients with FS and/or AB had the highest frequency of oral mucosal changes and higher DMFT/DMFS than patients without FS and/or AB and healthy controls (P < 0.01).However, PI, GI, and PPD did not differ significantly. CONCLUSION: Patients with FS and/or AB had lower salivary secretory rates, higher DMFT/DMFS, and more oral mucosal changes than patients without FS and/or AB.Additionally, data suggest that salivary gland function in healthy individuals do not decrease with age. 相似文献
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996.
P Adjamian G R Barnes A Hillebrand I E Holliday K D Singh P L Furlong E Harrington C W Barclay P J G Route 《Clinical neurophysiology》2004,115(3):691-698
OBJECTIVE: To introduce a new technique for co-registration of Magnetoencephalography (MEG) with magnetic resonance imaging (MRI). We compare the accuracy of a new bite-bar with fixed fiducials to a previous technique whereby fiducial coils were attached proximal to landmarks on the skull. METHODS: A bite-bar with fixed fiducial coils is used to determine the position of the head in the MEG co-ordinate system. Co-registration is performed by a surface-matching technique. The advantage of fixing the coils is that the co-ordinate system is not based upon arbitrary and operator dependent fiducial points that are attached to landmarks (e.g. nasion and the preauricular points), but rather on those that are permanently fixed in relation to the skull. RESULTS: As a consequence of minimizing coil movement during digitization, errors in localization of the coils are significantly reduced, as shown by a randomization test. Displacement of the bite-bar caused by removal and repositioning between MEG recordings is minimal ( approximately 0.5 mm), and dipole localization accuracy of a somatosensory mapping paradigm shows a repeatability of approximately 5 mm. The overall accuracy of the new procedure is greatly improved compared to the previous technique. CONCLUSIONS: The test-retest reliability and accuracy of target localization with the new design is superior to techniques that incorporate anatomical-based fiducial points or coils placed on the circumference of the head. 相似文献
997.
998.
Documentation of pulmonary capillary permeability in the adult respiratory distress syndrome accompanying human sepsis. 总被引:6,自引:0,他引:6
R R Anderson R L Holliday A A Driedger M Lefcoe B Reid W J Sibbald 《The American review of respiratory disease》1979,119(6):869-877
Current evidence suggests that pulmonary edema accompanying human sepsis may result either from changes in the serum oncotic and hydrostatic pressures or an increase in the permeability of the pulmonary microvasculature. In this study, we compared the "clearance" of injected 131I-labeled human serum albumin from blood to bronchoalveolar secretions in intubated patients with pulmonary edema secondary to sepsis or myocardial infarction. A significantly increased mean +/- SE clearance of the radionuclide was seen in patients with sepsis (0.34 +/- 0.03 ml per hour) compared to those with myocardial infarction (0.043 +/- 0.008 ml per hour) (P less than 0.001), although both groups had similar degrees of edema on chest radiographs. Because the patients with sepsis had no severe decrease in serum oncotic pressure (18.4 +/- 5.0 mm Hg) or evidence of left heart failure, as determined by the pulmonary wedge pressure (11.0 +/- 6.8 mm Hg), we concluded that the genesis of the pulmonary edema in sepsis was due to an increase in pulmonary microvascular permeability, as measured by the increased clearance of 131I-labeled human serum albumin. 相似文献
999.
1000.
Urinary dysfunction in a geriatric long-term care population: prevalence and patterns 总被引:4,自引:0,他引:4
M A Jewett G R Fernie P J Holliday M E Pim 《Journal of the American Geriatrics Society》1981,29(5):211-214
More complete data on th prevalence and types of urinary dysfunction in geriatric institutional patients are essential for the management of their urologic problems. Over a 13-month period, a prospective study was conducted of all new admissions to a hospital for long-term care. Eighty percent (277/347) of the newly admitted patients were geriatric (65 or older). Urinary dysfunction was identified in 69.3 percent of the geriatric group; 38.3 percent were incontinent, 20.2 percent bore a urinary diversion device, and 10.8 percent were symptomatic without incontinence. Obtaining reliable information about urologic status posed a significant problem, particularly as 27 percent of the subjects had a mental disorder, including organic brain syndrome or confusion. Thirty percent of all patients questioned were unable to give any history of their own health status. Questioning of both staff and patient to determine reliability of the data revealed that the given information was correct in 77 percent of patients who acknowledged genitourinary dysfunction, and in 83 percent of those who denied it. The study failed to elicit useful data concerning the specificity of symptoms, urologic history, diagnosis and management of urinary dysfunction in this series of geriatric patients under long-term institutional care. 相似文献