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61.
62.
A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations 总被引:3,自引:0,他引:3
M. Al Jumah R. Majumdar S. Al Rajeh A. Awada A. Al Zaben I. Al Traif A. R. Al Jumah Z. Rehana 《European journal of neurology》2004,11(2):121-124
Wilson disease (WD) is a hereditary disorder, with recessive transmission and genetic heterogeneity. Several mutations of ATP7B, the gene underlying WD, were reported in many ethnic groups. In this study, mutation screening in ATP7B of 56 Saudi Arabian WD patients was undertaken. The clinical data of all patients were recorded. The entire ATP7B coding sequence, including intron-exon boundaries were screened for mutation by the polymerase chain reaction (PCR)-based mutation detection technique and DNA sequencing. Thirty-nine patients were symptomatic at presentation and 17 subjects were pre-symptomatic siblings of affected patients. Fourteen patients had neurological, 11 patients had mixed (hepatic and neurological), and 14 patients had hepatic presentations. Family history suggestive of WD was present in 72% of cases and 68% had consanguineous parents. Genetic analysis showed disease-causing mutations in three exons (exons 8, 19 and 21) of the ATP7B gene in 28 patients (50%). Mutations in exons 21 (18 cases) and 19 (one case) were unique for Saudis. This large series of Saudi patients with WD has shown wide variability in the genomic substrate of WD. There is no correlation between genotype and clinical presentation. 相似文献
63.
Lichen planus pemphigoides. Is it a separate entity? 总被引:1,自引:0,他引:1
R. K. Joshi D. Natukorala A. Abanmi T.Al Awadi 《The British journal of dermatology》1994,130(4):537-538
64.
Symptomatic involvement of the oesophageal mucosa by pemphigus vulgaris is rare. We describe 1 patient who was treated with oral steroids during a blistering phase, when epigastric pain developed. Endoscopy revealed multiple ulcerations all over the oesophagus, but gastroduodenal mucosa was normal. The symptoms disappeared following cimetidine for gastro-oesophageal reflux and increase of steroid dosage. When painful symptoms appear from the upper digestive tract during corticosteroid treatment of pemphigus, the possibility of acantholytic involvement of oesophageal mucosa must be kept in mind. Its implication for the dosage of steroids is opposite that in steroid-induced peptic ulcers. Carefully performed upper gastrointestinal tract endoscopy is helpful in these patients. 相似文献
65.
Ayman S Al Khadra Abdulaziz Al Jutaily Salem Al Shuhri 《Europace : European pacing, arrhythmias, and cardiac electrophysiology》2006,8(3):175-177
This report describes a patient with an implantable defibrillator who suffered an inappropriate defibrillation shock upon retrieving some food items from his inadequately earthed refrigerator. Noise typical of electrical interference can be observed in the stored electrogram of the episode. The patient was instructed to earth his home appliances, but he decided to avoid his refrigerator altogether, and has had no subsequent shocks. 相似文献
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68.
Glatiramer acetate is an immunomodulating drug used in the treatment of multiple sclerosis. It consists of a copolymer of amino acid residues in the same stoichiometric proportions as in myelin basic protein. Its mechanism of action is not entirely known and is probably multifaceted, with deletion of some immune cell populations and stimulation of others in these patients. Some mechanisms involve neuroprotectant effects. There is ample evidence of its efficacy in relapsing-remitting disease, using both clinical and imaging measures of disease activity, and in this paper we review the clinical and basic studies of this drug. Finally we discuss how some of its neuroprotectant effects may be useful in neurodegeneration such as is seen in more advanced cases of multiple sclerosis and other diseases such as amyotrophic lateral sclerosis and Parkinson’s disease. 相似文献
69.
Jennifer C. Chen Katrina L. Schmid Brian Brown Marion H. Edwards Bibianna SY Yu John KF Lew 《Clinical & experimental optometry》2003,86(5):323-330
Purpose: Caucasian children with myopia have elevated response accommodative vergence to accommodation (AC/A) ratios. The purpose of this study was twofold: to determine if response AC/A ratios vary with refractive error and with myopic progression rate in Hong Kong Chinese children, and to determine the effect of beta‐adrenergic antagonism with topical timolol application on AC/A ratios. Methods: Thirty children aged eight to 12 years participated in the study. All refractive errors were corrected with spectacle lenses. Accommodative responses were measured using a Shin‐Nippon autorefractor and concurrent changes in vergence were assessed using a vertical prism and a Howell‐Dwyer card at three metres and 0.33 metre. Accommodative demand was altered using plus or minus two dioptre lenses and lens‐ and distance‐induced response AC/A ratios were calculated. Measurements were repeated 30 minutes after the instillation of topical timolol maleate (0.5 per cent). Results: AC/A ratios appeared higher in progressing myopic children but the difference was not statistically significant. Timolol application reduced accommodative convergence (AC) in the stable myopes (reduction = ‐3 ± 1.14A) but not in the emmetropes (0.69 ± 0.9P) or progressing myopes (0.16 ± 0.43A) and this difference between refractive groups was statistically s ignificant (F2,27= 3.766; P= 0.036). However, timolol did not produce a significant change in the accommodative response to positive or negative lenses or response AC/A ratios. Conclusions: We did not find that AC/A ratios in myopic Chinese children were elevated and therefore, it is unlikely that elevated AC/A ratios are responsible for the high levels of myopia that occur in Hong Kong. The finding that timolol reduced AC in the stable myopes suggests that the autonomic control of accommodative convergence in these children may be different from that in emmetropic children and those with progressing myopia. 相似文献
70.
Melissa McCartney Al Reader Mike Beck 《Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics》2007,104(4):571-575
OBJECTIVE: The purpose of this retrospective analysis was to determine the pain associated with needle insertion, placement, and solution deposition for the conventional inferior alveolar nerve (IAN) block in patients with irreversible pulpitis. STUDY DESIGN: One hundred two emergency patients with irreversible pulpitis received IAN block injections using 2% lidocaine with 1:100,000 epinephrine. The patients recorded pain of the 3 injection stages on a Heft-Parker visual analog scale (VAS). RESULTS: Moderate-to-severe pain may occur 57% to 89% of the time with the IAN block. Needle placement was significantly more painful than needle insertion for men and significantly more painful than either insertion or deposition for women (P < .03). There was no statistical difference between the pain for men or women with respect to needle insertion, placement, or deposition pain (P > .05). Deposition of 0.2 to 0.4 mL anesthetic during placement did not significantly reduce placement pain for either gender (P = .753). CONCLUSION: In conclusion, 57% to 89% of patients presenting with irreversible pulpitis have the potential for moderate to severe pain with the IAN block. 相似文献