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Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family 总被引:3,自引:0,他引:3
Fagerheim T; Nilssen O; Raeymaekers P; Brox V; Moum T; Elverland HH; Teig E; Omland HH; Fostad GK; Tranebjaerg L 《Human molecular genetics》1996,5(8):1187-1191
Hereditary hearing impairment affects about 1 in 1000 newborns. In most
cases hearing loss is non-syndromic with no other clinical features, while
in other families deafness is associated with specific clinical
abnormalities. Analysis of large families with non-syndromic and syndromic
deafness have been used to identify genes or gene locations that cause
hearing impairment. The present report describes a large Norwegian family
with autosomal dominant non-syndromic, progressive high tone hearing loss
with linkage to 1q21-q23. A maximum LOD score of 7.65 (theta = 0.00) was
obtained with the microsatellite marker D1S196. Analysis of recombinant
individuals maps the deafness gene (DFNA7) to a 22 cM region between D1S104
and D1S466. The region contains several attractive candidate genes. This
report supports the idea of extensive genetic heterogeneity in hereditary
hearing impairment and represents the first localization of a deafness gene
in a Norwegian family.
相似文献
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Russell EJ; Geremia GK; Johnson CE; Huckman MS; Ramsey RG; Washburn-Bleck J; Turner DA; Norusis M 《Radiology》1987,165(3):609-617
Sixteen patients with suspected cerebral metastases were studied with magnetic resonance (MR) imaging before and after the intravenous administration of 0.1 mmol/kg of gadolinium diethylenetriaminepenta-acetic acid. The images were interpreted blindly by two neuroradiologists; all clinical, radiologic (computed tomographic and MR imaging), and pathologic data were reviewed to arrive at a final "best diagnosis," which was then compared with the prior blinded interpretations. Of seven patients found to have multiple metastases, six (86%) had at least one tumor nodule depicted by postinfusion MR imaging that was missed by one or both observers on review of preinfusion images alone. Lesions missed on preinfusion studies were usually small nodules hidden by or not detected next to regions of high-signal edema thought to be related to the adjacent tumor nodule. The authors believe that contrast enhancement improves detection of metastatic foci with MR imaging and that the findings indicate broader implications for the detection of multiple lesions from other causes. 相似文献
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Nath C Patnaik GK Saxena RC Gupta MB 《Indian journal of physiology and pharmacology》1997,41(1):42-46
Effect of diphenhydramine was investigated on withdrawal signs in lorazepam dependent rats. Physical dependence was produced by giving lorazepam admixed with the food in the following dose schedule: 10 x 4, 20 x 4, 40 x 4, 80 x 4 and 120 x 7 (mg/kg, daily x days). The parameters observed during the periods of administration of lorazepam and after its withdrawal were spontaneous locomotor activity (SLA), body temperature, reaction time to pain, foot shock aggression (FSA) and audiogenic seizures. Diphenhydramine was administered orally in the dose schedules of once daily (10, 20 and 40 mg/kg) and twice daily (5, 10 and 20 mg/kg) in separate groups during the withdrawal period. The withdrawal signs observed in control group (without diphenhydramine) were hyperkinesia, hyperthermia, hyperaggression and audiogenic seizures. Hyperkinesia and hyperthermia were blocked in all the groups of diphenhydramine-treated rats. FSA was inhibited only by diphenhydramine (10 and 20 mg/kg) given twice daily. Audiogenic seizures were completely blocked by once daily (20 and 40 mg/kg) as well as twice daily (20 mg/kg) doses of diphenhydramine. It may be concluded that diphenhydramine exerts a protective effects on benzodiazepine withdrawal syndrome. 相似文献
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RAJVIR BHALWAR HS SANDHU RC AHUJA GK SINGH RP MISRA 《Medical Journal Armed Forces India》1994,50(3):175-180
A population based hybrid design combining element of cohort and cross-sectional approach was used to develop a simple clinical algorithm to predict individual probability of developing hypertension (systolic BP > 140 mm Hg and/or diastolic BP > 90 mmHg). 3615 soldiers initially normotensive at the time of induction into high altitude, were studied by systematic random sampling. Multiple logistic regression analysis showed a high significant association between hypertension and age, body mass index (BMI), tobacco smoking and alcohol consumption. Using the constant/coefficient values obtained from the logistic model and the receiver operating characteristics (ROC) curve analysis, the following predictive rule was developed – To the age in years, add (BMIx 3.86); also add 5.53 if he is a smoker; and add 19.81 if he consumes alcohol. If the total exceeds 142, the individual is at high risk of developing hypertension. This algorithm carries a sensitivity of 68.2% and specificity of 78.5%.KEY WORDS: Hypertension, High altitude 相似文献
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The lactate dehydrogenase (LDH) activity of garden lizard brain did not change with advancing age. On the other hand the succinate dehydrogenase (SDH) activity showed a decline during maturation (young to middle-aged) remaining stabilized thereafter. Seven days of partial water deprivation did not alter the LDH activity of lizards of all three age groups but caused an increase in SDH activity of old lizards only. Restricted feeding led to a decline in the activities of both the enzymes (LDH and SDH) in young lizards and an increase in LDH activity of only the old, the response in middle-aged being insignificant. The protein content of the brain did not change during maturation, but declined in old lizards. Partial water deprivation caused an increase in protein content of the brain of both middle-aged and old lizards but not in young counterparts. Only the young lizards showed an increase in protein content of the brain in response to food restriction. 相似文献
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