von Hippel-Lindau disease--hemangioblastoma associated with pheochromocytoma

The association of a pheochromocytoma with von Hippel-Lindau disease is uncommon. We had a family with eight patients affected by von Hippel-Lindau disease, of whom five had hemangioblastoma of the central nervous system and seven had pheochromocytoma. As other lesions, retinal angiomatosis, spinal A-V malformation and spinal hemangioma were included in this family. In this paper five hemangioblastomas, four of whom had the association of hemangioblastoma and pheochromocytoma, are presented and clinical features of hemangioblastoma associated with pheochromocytoma are discussed, comparing to the 16 reported cases that had the association of hemangioblastoma and pheochromocytoma. The mean age of our own five cases at the onset of clinical symptoms was 32.2 years (ranging from 24 to 41 years) and that of reported 16 cases was 33.9 years (ranging from 18 to 55 years). These ages are slightly younger than that of sporadic hemangioblastoma. On the other hand, the mean age at the onset of pheochromocytoma was 28.3 years in our cases and 31.0 years in reported cases. This may suggest that hemangioblastoma when it is associated with pheochromocytoma presents its symptoms several years after the signs and symptoms of pheochromocytoma are manifested. In our cases a male to female ratio was 4:1 and in reported ones it was 9:7, showing that hemangioblastoma associated with pheochromocytoma as well as sporadic hemangioblastoma is likely to occur more in male.(ABSTRACT TRUNCATED AT 250 WORDS)     

Analysis of sarcoplasmic reticulum proteins in patients susceptible to malignant hyperthermia

It has been suspected that the cause of malignant hyperthermia (MH) is an abnormality in the sarcoplasmic reticulum of skeletal muscle. We isolated the sarcoplasmic reticulum from malignant hyperthermia-susceptible (MHS) patients and controls and analysed the protein composition with sodium dodecyl sulfate polyacrylamide gel electrophoresis. There were no remarkable changes in the sarcoplasmic reticulum protein composition profile of the scanned gel of the patients. Quantitative measurement of the relative proportion of each band in the gel, however, revealed a slight decrease in calsequestrin and a slight increase in a protein of molecular wieght 23,000. (Ca²⁺ Mg²⁺) ATPase had no altered sub-fragments in MHS patients. Crude mitochondrial proteins and myoplasmic proteins showed minor alterations in composition in some patients. The data supported the thesis that malignant hyperthermia is due to defects in several different cell membranes including the sarcoplasmic reticulum and the mitochondria.     

Severe primary hyperparathyroidism in a neonate having a parent with hypercalcemia: treatment by total parathyroidectomy and simultaneous heterotopic autotransplantation

Neonatal primary hyperparathyroidism is a life-threatening disease because of marked hypercalcemia and severe respiratory distress caused by the hypoplastic thorax and occasional rib fractures. We report a 29-day-old girl treated by total parathyroidectomy and simultaneous autotransplantation of parathyroid tissue (one fifth of each of the two glands) in the femoral quadriceps muscle near the groin. At the time of operation, all four of the parathyroid glands were markedly enlarged, and their total weight was 900 mg. Part of the resected parathyroid tissue was cryopreserved for further autotransplantation should hypoparathyroidism develop. Two years six months after surgery, the infant was well and had normal levels of serum calcium and immunoreactive parathyroid hormone in the absence of any supplementary treatment. Asymptomatic hypercalcemia in the presence of abnormally low fractional excretion of calcium was found in the father. Based on our experience and review of the literature, we recommend total parathyroidectomy, autotransplantation, and cryopreservation for the neonate with primary hyperparathyroidism.     

Direct and indirect effects of interferon on in vivo murine tumor cell growth

We cloned two sublines (S1 and R1) of murine Meth A fibrosarcoma cells with respect to their sensitivity to a murine alpha/beta-interferon (IFN) preparation. The growth of S1 cells was suppressed and that of R1 cells was hardly affected by IFN in vitro. This was also the case with cells enclosed in cell-impermeable diffusion chambers in peritoneal cavities. Nevertheless, IFN suppressed the growth of not only S1 cells but also R1 cells in mice inoculated i.p. with these cells, and the survival rates of both S1 cell recipients and R1 cell recipients were markedly improved. S1 cells were observed microscopically to be injured by the direct effect of IFN in vitro and in vivo, but R1 cells in in vitro culture with IFN and those surviving in vivo in the presence of IFN appeared to proliferate well. In the peritoneal cavity of R1 recipients treated daily with IFN, the recruitment of macrophages was enhanced in comparison with untreated R1 recipients. Adherent peritoneal exudate cells obtained from IFN-treated, R1-bearing mice were highly suppressive for the in vitro growth of not only R1 cells but also allogeneic and human cells. The role of macrophages in the indirect effect of IFN on tumor cell growth is discussed.