We used amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) to document the prevalence of three mutations in the beta chain of the high-affinity IgE receptor (Fcepsilon RI-beta): I181L, V183L, and E237G in a sample of black and white asthmatic and control subjects in South Africa to determine whether these variants contribute to the enhanced IgE responses in these groups and also to determine whether the discrepancy in the prevalence of atopy in these groups could be attributed to these variants, as whites tend to be more atopic than blacks. There was a significant difference in the frequency of I181L between white asthmatics (28%) and white control subjects (3%) (p = 0.00001), and between black control subjects (16%) and white control subjects (p = 0.002); no difference in the frequency of I181L was observed between black asthmatics (22%) and black control subjects (16%). V183L was found in one black asthmatic who was also positive for I181L and E237G. There was a significant difference in the frequency of E237G between black asthmatics (20%) and white asthmatics (12%) (p = 0.05), and between control subjects (20%) and white control subjects (5%) (p = 0.003). E237G was more prevalent in blacks (20%) than in whites (8.5%) (p = 0.001). I181L might predispose to atopy in the white population, but not in the black population. The significantly higher prevalence of E237G in blacks than in whites might explain why blacks tend to have more severe asthma than whites and might offer more insight into the higher asthma mortality rate in the black population as compared with the white population.
The prevalence of the different phenotypes of alpha 1-protease inhibitor (alpha 1PI) was investigated in a group of 90 asthmatic patients and compared with that of a control group of 240 individuals representing the general population. The M2M2 phenotype occurred more frequently in the asthmatic group (p = 0.015). Plasma samples of 51 of the asthmatic patients randomly selected from the different phenotype groups identified were studied for the absolute plasma values of alpha 1-PI and the inhibitory capacity of plasma for porcine pancreatic elastase, and compared with those from 21 nonasthmatic individuals of the M1M1 phenotype. Although the asthmatic patients had higher absolute alpha 1PI values (p = 0.04), the plasma elastase inhibitory capacity was markedly reduced compared with the nonasthmatic subjects (p = 0.01). The functional efficiency of alpha 1PI from asthmatic patients of the M1M1, M1M2, and M2M2 phenotypes was significantly decreased compared with that of the nonasthmatic M1M1 individuals. Functional deficiency of alpha 1PI may be important in the pathogenesis of the inflammatory process that characterizes bronchial asthma.
Self-inflicted injuries are common in Gilles de la Tourette syndrome. Ocular lesions described in the literature comprise isolated cases of orbital hemorrhage, retinal detachment and permanent severe visual loss. Lens luxation has not been described before, and is probably due to weakened zonulae induced by repeated trauma. Treatment with a retropupillary iris-claw lens is the preferred therapy as it reduces the risk of endothelial touch during repeated trauma on the eye.
The prevalence of the Taq I(‐) allele in variants of α1‐proteinase inhibitor (α1PI) was investigated in a group of 28 black asthmatic patients and 32 black control individuals, and was compared to 43 white asthmatic patients and 32 white control individuals. The plasma concentration of α1PI was determined in eight black and 14 white asthmatics without the Taq I(‐) allele, and compared to seven black and three white asthmatics with the Taq I(‐) allele. Alpha‐1‐PI concentration was also determined in 10 black and 29 white control individuals without the Taq I(‐) allele and compared to seven black and three white controls with the Taq I(‐) allele. There was a highly significant difference in the frequency of the Taq I(‐) allele between black South Africans (24.1%) and white South Africans (6%) (p<0.00001) and a significant difference in the frequency of the Taq I(‐) allele between black asthmatics and white asthmatics (p = 0.0004) and between black controls and white controls (p = 0.011). The Taq I(‐) allele was significantly associated with the Ml(Val213) variant as compared to the Ml (Ala213) of α1PI (p = 0.0042). There was no difference in the concentration of α1PI between the asthmatics (black and white) lacking the Taq I(‐) allele and the asthmatics (black and white) with the allele. However, a significant increase in plasma α1PI concentration was found in the asthmatics compared to the controls (p = 0.011). The Taq I(‐) allele did not seem to interfere with the basal expression of α1PI in the groups of asthmatic patients in this study.
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