To investigate whether reduced levels of plasma platelet-activating factor acetylhydrolase (PAF-AH) as a result of a genetic polymorphism are involved in the pathogenesis of Kawasaki disease (KD). Study design: The fr...To investigate whether reduced levels of plasma platelet-activating factor acetylhydrolase (PAF-AH) as a result of a genetic polymorphism are involved in the pathogenesis of Kawasaki disease (KD). Study design: The frequency of a V279F polymorphism (G/T transversion) in the PAF-AH gene was quantified in 76 Japanese children with KD and 112 healthy Japanese adults using the allele- specific polymerase chain reaction (PCR). Associations between genotype, clinical features, and resistance to intravenous immunoglobulin (IVIG) were investigated in the patients with KD. Plasma PAF-AH activity was measured by using [3H]- acetyl-PAF. Results: There were no significant differences in genotype frequency between patients and controls (P = .51). Compared with the GG (normal genotype) group, significantly more patients in the GT (heterozygous) + TT (homozygous deficient) group required additional IVIG (52% vs 14% , P = .001). The duration of fever and maximum serum C-reactive protein (CRP) levels also were significantly increased in the GT+ TT group (P = .012 and .036, respectively), whereas plasma PAF-AH activity was significantly lower (P < .0001). Conclusion: We conclude that the V279F polymorphism in the plasma PAF-AH gene and consequent enzymatic deficiency is one of the factors for IVIG nonresponse in Japanese patients with acute KD.展开更多
Purpose: To describe the clinical features and genetic analysis of a 3- year-old boy diagnosed with familial fleck retina with night blindness. Methods: The proband and his parents and grandparents were included. Hist...Purpose: To describe the clinical features and genetic analysis of a 3- year-old boy diagnosed with familial fleck retina with night blindness. Methods: The proband and his parents and grandparents were included. History, visual acuity and fundus examinations were evaluated. Bright-flash (rod-plus-cone)-electroretinograms (ERGs) were recorded after 30mins and 180 mins of dark adaptation. Mutation screening of the RDH5 gene encoding 11- cis retinol dehydrogenase was performed. Results: The parents noticed the proband’ s night blindness when he was 2 years old. Best corrected visual acuity was 1.0 in both eyes. Fundus examinations revealed numerous yellow-white flecks of varying size and shape throughout the midperipheral to far peripheral retina in both eyes. The distribution, size and shape of the flecks were comparable to those seen in familial fleck retina with night blindness, rather than fundus albipunctatus. The ERGs showed extremely diminished responses after 30 mins of dark adaptation, but there were substantial increases in the amplitudes of both a-and b-waves when recorded after 180 mins of dark adaptation. Although a total of 19 RDH5 mutations have been found only in patients with fundus albipunctatus, compound heterozygous mutations, p.V177G and p.L310delinsEV, whose combination has not been previously reported,were found in the proband. The asymptomatic parents and one of the grandparents each carried one of the mutations, consistent with autosomal recessive transmission. Conclusion: Our study indicates that different mutations in the RDH5 gene can cause phenotypic variations of either fundus albipunctatus or familial fleck retina with night blindness.展开更多
PURPOSE. To examine the relation between intima- media thickness (IMT) in the common carotid artery, which is generally recognized as a marker of early atherosclerosis, and retinal circulatory parameters. METHODS. The...PURPOSE. To examine the relation between intima- media thickness (IMT) in the common carotid artery, which is generally recognized as a marker of early atherosclerosis, and retinal circulatory parameters. METHODS. The vessel diameter and blood velocity of retinal arterioles were measured with laser Doppler, velocimetry (LDV) in 33 patientswith coronary artery disease (CAD), because they were thought to have general atherosclerosis. The retinal blood flow (RBF) and wall shear rate (WSR), an index of wall shear stress in retinal vessels, were calculated from the two parameters. The carotid IMT was evaluated with B- mode ultrasonography. RESULTS. The patients were divided into two groups: those with an IMT >0.70 mm and those with an IMT ≤ 0.70 mm. The blood velocity, WSR, and upstroke time in the retinal arterioles were signifi- cantly higher in the group with an IMT > 0.70 mm compared with the group with an IMT ≤ 0.70 mm. There were no significant differences in vessel diameter and RBF between the groups. Positive correlations were found between the carotid IMT and blood velocity (r=0.51, P=0.002) and WSR (r= 0.60, P=0.0001). Multiple regression analysis showed that the retinal WSR and blood velocity correlated independently with the IMT in patients with CAD. CONCLUSIONS. The present findings;from this pilot study suggest that the retinal circulatory parameters measured by LDV may be associated with systemic atherosclerosis. These results support recent studies showing an association between retinal microvascular changes and cardiovascular disease.展开更多
文摘To investigate whether reduced levels of plasma platelet-activating factor acetylhydrolase (PAF-AH) as a result of a genetic polymorphism are involved in the pathogenesis of Kawasaki disease (KD). Study design: The frequency of a V279F polymorphism (G/T transversion) in the PAF-AH gene was quantified in 76 Japanese children with KD and 112 healthy Japanese adults using the allele- specific polymerase chain reaction (PCR). Associations between genotype, clinical features, and resistance to intravenous immunoglobulin (IVIG) were investigated in the patients with KD. Plasma PAF-AH activity was measured by using [3H]- acetyl-PAF. Results: There were no significant differences in genotype frequency between patients and controls (P = .51). Compared with the GG (normal genotype) group, significantly more patients in the GT (heterozygous) + TT (homozygous deficient) group required additional IVIG (52% vs 14% , P = .001). The duration of fever and maximum serum C-reactive protein (CRP) levels also were significantly increased in the GT+ TT group (P = .012 and .036, respectively), whereas plasma PAF-AH activity was significantly lower (P < .0001). Conclusion: We conclude that the V279F polymorphism in the plasma PAF-AH gene and consequent enzymatic deficiency is one of the factors for IVIG nonresponse in Japanese patients with acute KD.
文摘Purpose: To describe the clinical features and genetic analysis of a 3- year-old boy diagnosed with familial fleck retina with night blindness. Methods: The proband and his parents and grandparents were included. History, visual acuity and fundus examinations were evaluated. Bright-flash (rod-plus-cone)-electroretinograms (ERGs) were recorded after 30mins and 180 mins of dark adaptation. Mutation screening of the RDH5 gene encoding 11- cis retinol dehydrogenase was performed. Results: The parents noticed the proband’ s night blindness when he was 2 years old. Best corrected visual acuity was 1.0 in both eyes. Fundus examinations revealed numerous yellow-white flecks of varying size and shape throughout the midperipheral to far peripheral retina in both eyes. The distribution, size and shape of the flecks were comparable to those seen in familial fleck retina with night blindness, rather than fundus albipunctatus. The ERGs showed extremely diminished responses after 30 mins of dark adaptation, but there were substantial increases in the amplitudes of both a-and b-waves when recorded after 180 mins of dark adaptation. Although a total of 19 RDH5 mutations have been found only in patients with fundus albipunctatus, compound heterozygous mutations, p.V177G and p.L310delinsEV, whose combination has not been previously reported,were found in the proband. The asymptomatic parents and one of the grandparents each carried one of the mutations, consistent with autosomal recessive transmission. Conclusion: Our study indicates that different mutations in the RDH5 gene can cause phenotypic variations of either fundus albipunctatus or familial fleck retina with night blindness.
文摘PURPOSE. To examine the relation between intima- media thickness (IMT) in the common carotid artery, which is generally recognized as a marker of early atherosclerosis, and retinal circulatory parameters. METHODS. The vessel diameter and blood velocity of retinal arterioles were measured with laser Doppler, velocimetry (LDV) in 33 patientswith coronary artery disease (CAD), because they were thought to have general atherosclerosis. The retinal blood flow (RBF) and wall shear rate (WSR), an index of wall shear stress in retinal vessels, were calculated from the two parameters. The carotid IMT was evaluated with B- mode ultrasonography. RESULTS. The patients were divided into two groups: those with an IMT >0.70 mm and those with an IMT ≤ 0.70 mm. The blood velocity, WSR, and upstroke time in the retinal arterioles were signifi- cantly higher in the group with an IMT > 0.70 mm compared with the group with an IMT ≤ 0.70 mm. There were no significant differences in vessel diameter and RBF between the groups. Positive correlations were found between the carotid IMT and blood velocity (r=0.51, P=0.002) and WSR (r= 0.60, P=0.0001). Multiple regression analysis showed that the retinal WSR and blood velocity correlated independently with the IMT in patients with CAD. CONCLUSIONS. The present findings;from this pilot study suggest that the retinal circulatory parameters measured by LDV may be associated with systemic atherosclerosis. These results support recent studies showing an association between retinal microvascular changes and cardiovascular disease.
