Long surviving classical Menkes disease treated with weekly intravenous copper therapy.

Menkes diseases (MD) is an X-linked recessive neurodegenerative disorder of copper metabolism, characterized by progressive multisystemic involvement. Death in the early childhood is usually observed in classical patients. Although a definite cure has not been established, copper replacement therapy administered parenterally may modify the severity of MD and permitted survival into adolescence. Subcutaneous copper-histidine supplementation is the current choice of therapy, and long-term administration is not desirable because of the expected nephrotoxicity. We report here the case of a 29-year-old male with MD who tolerated long-term intravenous copper therapy initiated at 2 months. Molecular analysis revealed hemizygous deletion mutation of ATP7A previously reported in classical MD. Although neurodevelopement is poor, no major event of central nervous system is observed, and he enjoys a good social life by interacting using gestures. Optimum management is unknown, and closed follow-up is mandatory for clarification of this phenotype.

Nasopharyngeal glial heterotopia with delayed postoperative meningitis.

A male infant, who underwent radical resection of a large glial heterotopia at the nasopharynx at 8 days, developed delayed postoperative bacterial meningitis at 9 months. Neuroradiological examination clearly demonstrated that meningitis had occurred because of the intracranial and extracranial connections, which were scarcely seen in the perioperative period. A transsphenoidal extension of hypothalamic hamartoma is possible because the connection started from the right optic nerve, running through the transsphenoidal canal in the sphenoid bone and terminating at the recurrent mass in the nasopharyngeal region.

Beta-cryptoxanthin, plentiful in Japanese mandarin orange, prevents age-related cognitive dysfunction and oxidative damage in senescence-accelerated mouse brain.

Increased oxidative stress is known to accelerate age-related pathologies. Beta-cryptoxanthin (ß-CRX, (3R)-ß,ß-caroten-3-ol) is a potent antioxidant that is highly rich in Satsuma mandarin orange (mandarin), which is the most popular fruit in Japan. We investigated the antioxidative and anti-aging effects of ß-CRX and mandarin using senescence-accelerated mice (SAMP10), which were characterized by a short lifespan, high generation of superoxide anions in the brain and poor learning ability with aging. ß-CRX (0.5-5.0 µg/ml) or mandarin juice (3.8-38.0%) was added to drinking water of SAMP10 one to 12 months of age. ß-CRX was dose-dependently incorporated into the cerebral cortex and the contents were similar to the concentration of ß-CRX in the human frontal lobe. These mice also had higher learning ability. The level of DNA oxidative damage was significantly lower in the cerebral cortex of mice that ingested ß-CRX and mandarin than control mice. In addition, the mice that ingested ß-CRX (>1.5 µg/ml) and mandarin (>11.3%) exhibited a higher survival when 12 month-old, the presenile age of SAMP10, than control mice. These results suggest that ß-CRX is incorporated into the brain and has an important antioxidative role and anti-aging effect.

[The use of predeposited autologous blood transfusion for radical prostatectomy].

PURPOSE: In reference to the cases in which radical prostatectomy was performed after storage of autologous blood, we retrospectively study the usefulness of this procedure and proper amount of blood stored. PATIENTS AND METHODS: The subjects included 62 cases in which radical prostatectomy was performed after storage of autologous blood from October, 1997 to March, 2000. As the amount of blood to be stored, either 800 ml or 1,200 ml was selected optionally as the amount of blood to be stored, and blood was stored at a rate of 400 ml once a week. Erythropoietin, 24,000 units was injected subcutaneously after storage of blood, and an iron preparation 200 mg/day was administered orally throughout the period. RESULTS: Homologous blood transfusion could be avoided in 58 out of 62 cases, the avoidance rate being 93.5%. With 200 ml of autologous blood as 1 unit, 104 units out of 330 units were discarded, the disposal rate being 31.5%. To lower the disposal rate, we studied whether there is any parameter that can predict the loss of blood preoperatively. As a result, we found a significant difference in the loss of blood between the body mass index of less than 24 and that of more than 24. Blood storage and transfusion produced no side-effects. CONCLUSION: Storing autologous blood in radical prostatectomy is considered useful since homologous blood transfusion can be avoided at a high percentage and no side-effects are produced. The body mass index is useful for predicting the loss of blood and determining a proper amount of blood to be stored.