Hemochromatosis is a genetically heterogeneous condition. Mutations in the recently described hemojuvelin gene were found in patients with juvenile hemochromatosis, who usually manifest clinical signs of iron overload...Hemochromatosis is a genetically heterogeneous condition. Mutations in the recently described hemojuvelin gene were found in patients with juvenile hemochromatosis, who usually manifest clinical signs of iron overload, including cardiomyopathy and hypogonadism, in their teens and early 20s. In this report, we describe three Japanese patients who showed typical clinical and hepatic histological damage compatible with hemochromatosis at around 50 years of age. Genetic analyses showed that all three patients carried mutations in the hemojuvelin gene. The first patient was homozygous for a novel mutation (745G > C[D249H]), and the second and third patients from the same family were homozygous for another novelmutation (934C > T [Q312X]). No mutations in their HFE, hepcidin, transferrin receptor 2, or ferroportin genes were found. One patient had chronic infection with Helicobacter pylori. The age at initial presentation of hemojuvelin-hemochromatosis occurs over a wider range than previously described.展开更多
Direct-type hyperbilirubinemia in Dubin-Johnson syndrome is due to the genetic dysfunction of multidrug resistance protein 2. However, serum bilirubin levels may fluctuate as a result of acquired conditions. Iron-redu...Direct-type hyperbilirubinemia in Dubin-Johnson syndrome is due to the genetic dysfunction of multidrug resistance protein 2. However, serum bilirubin levels may fluctuate as a result of acquired conditions. Iron-reduction therapy by venesection, an alternative to interferon, was performed in a 55-year-old male patient with Dubin-Johnson syndrome complicated by hepatitis C virus-positive chronic liver disease and hepatic iron overload. His pretreatment serum total bilirubin was 10.2 mg/dl, with a dominant direct fraction. The treatment induced a significant reduction in serum total bilirubin, although it remained as high as 7.9 mg/dl. A negative correlation between serum total bilirubin and cumulative bled volume suggested that venesection could suppress bilirubin production from aged erythrocytes. The hepatic iron overload was distributed in hepatocyte lysosomes with Dubin-Johnson granules; thus, it seems that iron removal from the lysosomal granules may also help to reduce serum bilirubin. In conclusion, deep jaundice in a patient with Dubin-Johnson syndrome complicated by hepatitis C virus-positive chronic liver disease and iron overload was partially improved by iron-reduction therapy.展开更多
BACKGROUND AND OBJECTIVE: To compare the influence of low- molecular- weight viscoelastics on postoperative intraocular pressure (IOP) and corneal endothelial cell loss after phacoemulsification surgery. PATIENTS AND ...BACKGROUND AND OBJECTIVE: To compare the influence of low- molecular- weight viscoelastics on postoperative intraocular pressure (IOP) and corneal endothelial cell loss after phacoemulsification surgery. PATIENTS AND METHODS: Sixty- nine eyes undergoing phacoemulsification surgery were randomized to have either Opegan (Santen Pharmaceuticals, Osaka, Japan) alone or the soft- shell technique using Viscoat (Alcon Surgical, Fort Worth, TX) during phacoemulsification. The IOP was measured preoperatively and at 5 and 24 hours postoperatively. Intraoperative factors and corneal endothelial cell loss were also examined. RESULTS: Mean IOP was increased at 5 hours after surgery but returned to preoperative levels at 24 hours in the Opegan group, whereas it remained higher at 24 hours than at preoperative levels in the soft- shell group. When comparing groups, IOP at 5 and 24 hours postoperatively in the Opegan group was significantly less than that in the soft- shell group. Corneal endothelial cell loss was approximately the same in the two groups. CONCLUSION: The increase in IOP following phacoemulsification surgery with the use of Opegan was less than that with the soft- shell technique using Viscoat, although endothelial injury was almost the same.展开更多
文摘Hemochromatosis is a genetically heterogeneous condition. Mutations in the recently described hemojuvelin gene were found in patients with juvenile hemochromatosis, who usually manifest clinical signs of iron overload, including cardiomyopathy and hypogonadism, in their teens and early 20s. In this report, we describe three Japanese patients who showed typical clinical and hepatic histological damage compatible with hemochromatosis at around 50 years of age. Genetic analyses showed that all three patients carried mutations in the hemojuvelin gene. The first patient was homozygous for a novel mutation (745G > C[D249H]), and the second and third patients from the same family were homozygous for another novelmutation (934C > T [Q312X]). No mutations in their HFE, hepcidin, transferrin receptor 2, or ferroportin genes were found. One patient had chronic infection with Helicobacter pylori. The age at initial presentation of hemojuvelin-hemochromatosis occurs over a wider range than previously described.
文摘Direct-type hyperbilirubinemia in Dubin-Johnson syndrome is due to the genetic dysfunction of multidrug resistance protein 2. However, serum bilirubin levels may fluctuate as a result of acquired conditions. Iron-reduction therapy by venesection, an alternative to interferon, was performed in a 55-year-old male patient with Dubin-Johnson syndrome complicated by hepatitis C virus-positive chronic liver disease and hepatic iron overload. His pretreatment serum total bilirubin was 10.2 mg/dl, with a dominant direct fraction. The treatment induced a significant reduction in serum total bilirubin, although it remained as high as 7.9 mg/dl. A negative correlation between serum total bilirubin and cumulative bled volume suggested that venesection could suppress bilirubin production from aged erythrocytes. The hepatic iron overload was distributed in hepatocyte lysosomes with Dubin-Johnson granules; thus, it seems that iron removal from the lysosomal granules may also help to reduce serum bilirubin. In conclusion, deep jaundice in a patient with Dubin-Johnson syndrome complicated by hepatitis C virus-positive chronic liver disease and iron overload was partially improved by iron-reduction therapy.
文摘BACKGROUND AND OBJECTIVE: To compare the influence of low- molecular- weight viscoelastics on postoperative intraocular pressure (IOP) and corneal endothelial cell loss after phacoemulsification surgery. PATIENTS AND METHODS: Sixty- nine eyes undergoing phacoemulsification surgery were randomized to have either Opegan (Santen Pharmaceuticals, Osaka, Japan) alone or the soft- shell technique using Viscoat (Alcon Surgical, Fort Worth, TX) during phacoemulsification. The IOP was measured preoperatively and at 5 and 24 hours postoperatively. Intraoperative factors and corneal endothelial cell loss were also examined. RESULTS: Mean IOP was increased at 5 hours after surgery but returned to preoperative levels at 24 hours in the Opegan group, whereas it remained higher at 24 hours than at preoperative levels in the soft- shell group. When comparing groups, IOP at 5 and 24 hours postoperatively in the Opegan group was significantly less than that in the soft- shell group. Corneal endothelial cell loss was approximately the same in the two groups. CONCLUSION: The increase in IOP following phacoemulsification surgery with the use of Opegan was less than that with the soft- shell technique using Viscoat, although endothelial injury was almost the same.
