Corneal guttata associated with the corneal dystrophy resulting from a betaig-h3 R124H mutation

AIMS: To investigate the frequency of corneal guttata in patients with a corneal dystrophy resulting from an Arg124His (R124H) mutation of betaig-h3 gene. METHODS: Slit lamp examination was performed on 30 eyes with corneal dystrophy from a genetically confirmed betaig-h3 R124H mutation and on 50 age matched control eyes. The stage of the corneal dystrophy was classified as stage 0, I, or II and the degree of guttata was classified as none, mild, or severe. Specular microscopic examinations were performed to evaluate the morphology of the corneal endothelium. RESULTS: Slit lamp examination disclosed the presence of corneal guttata in 21 eyes (70%) of the 30 eyes with the corneal dystrophy, but in only one (2%) of the 50 eyes in the age matched control group (p<0.001, chi(2) with Yates's correction). Of the 12 eyes with stage I betaig-h3 R124H corneal dystrophy, seven had no corneal guttata and five had a mild degree of guttata. Of the 18 eyes with stage II, the degree of guttata was none in two, mild in nine, and severe in seven. The degree of corneal guttata was significantly related to the stage of the corneal dystrophy (p<0.0001, Kruskul-Wallis test ANOVA on ranks). There was no significant differences between eyes with betaig-h3 R124H corneal dystrophy and normal eyes in cell density, coefficient of variation, and cell hexagonality of corneal endothelium. CONCLUSION: Corneal guttata are one of the characteristics of the corneal dystrophy resulting from betaig-h3 R124H mutation.     

Hot spring bath and Legionella pneumonia: an association confirmed by genomic identification

A 59-year-old man developed pneumonia 9 days after bathing in a hot spring spa. Bilateral shadows on his chest radiograph rapidly progressed after admission. He was successfully treated with erythromycin and rifampicin. Legionella pneumophila serogroup 6 was recovered from an intratrachial specimen and a significant elevation was observed in a paired indirect fluorescent antibody to Legionella. Persistent slight fever and chest rentogenographic shadows resolved after administering low-dose prednisolone to treat organizing pneumonia shown by transbronchial lung biopsy. The same serotype of Legionella was recovered from the water of the hot spring spa where the man had bathed. When the extracted DNA of these two strains showed identical restriction fragments by pulsed-field gel electrophoresis, we had direct evidence that hot spring spas can be a source of Legionella pneumonia.     

Rapid regrowth of solitary subependymal giant cell astrocytoma--case report

A 48-year-old female presented with a subependymal giant cell astrocytoma (SEGA) without tuberous sclerosis manifesting as memory and mental disturbance. Magnetic resonance imaging showed a huge mass which was well-demarcated and extended from the anterior horn of the right lateral ventricle to the septal area on the right side. Surgery was performed with partial removal of the tumor. The histological diagnosis was typical SEGA. One year postoperatively, follow-up magnetic resonance imaging revealed marked regrowth of the tumor. Total resection of the tumor was performed. Microscopic and immunohistochemical studies could not identify the cause of the rapid regrowth. SEGA can regrow rapidly after partial removal of the tumor.     

A successful resection and long-term survival of a patient with intrahepatic recurrences of combined hepatocellular-cholangiocarcinoma: report of a case

Because of the low incidence rate of combined hepatocellular–cholangiocarcinoma (combined HCC-CC), the clinicopathological features of a recurrent tumor of this disease remain to be elucidated. We describe a 47-year-old Japanese woman with a 5-cm diameter mass lesion in the liver. A hepatectomy and dissection of the local lymph nodes were performed and a histological examination of the resected specimen showed combined HCC-CC. After a follow-up of 15 months, intrahepatic recurrence was observed, and a hepatectomy was performed again followed by hepatic arterial infusion chemotherapy. A histological examination revealed that the recurrent tumors consisted of only cholangioacarcinoma. A disease-free survival was obtained for about 7 years after the recurrence. To improve the poor prognosis of combined HCC-CC, clinicopathological features of this disease and the therapy selection for recurrent tumors should be discussed. Received: March 12, 2001 / Accepted: November 20, 2001     

High metabolic function of primary human and porcine hepatocytes in a polyurethane foam/spheroid culture system in plasma from patients with fulminant hepatic failure

It has been demonstrated that plasma from patients with fulminant hepatic failure (FHF) interferes extensively with cellular function. We placed primary human and primary porcine hepatocytes in a polyurethane foam (PUF)/spheroid culture system and compared the metabolic functions in the plasma of patients with FHF in a 24-h stationary culture to those in a monolayer culture. The PUF/spheroid culture system using primary human and primary porcine hepatocytes significantly decreased ammonia content during 28-day culture. Fisher's ratio significantly increased at culture days 3 and 7. Tauroursodeoxycholic acid significantly increased and glycochenodeoxycholic acid and taurochenodeoxycholic acid decreased in the FHF patients' plasma at culture day 3. During at least a 24-h culture in the FHF patients' plasma, metabolic functions of primary human and primary porcine hepatocytes were almost identical. The present results indicate that the PUF/spheroid culture system using primary human or primary porcine hepatocytes demonstrated more advantageous metabolic functions in the plasma from patients with FHF than the monolayer culture.