Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers

Autopsy cases of two brothers with bulbo-spinal muscular atrophy associated with gynecomastia, testicular atrophy and sensory neuropathy are reported. The disease started with finger tremor, proximal muscle weakness and facial muscle twitching at the second and fourth decades, accompanied by bulbar signs and glove-stocking type sensory disturbance. Systemic neurogenic patterns and diminished sensory nerve action potential amplitudes were recorded by electrophysiological studies. A marked loss of myelinated fibers was noticed upon sural nerve biopsy. Gonadal hormone values were normal, except for elevated urinary estrogen. Postmortem examinations revealed a remarkable degeneration of the facial and hypoglossal nuclei, and the spinal cord motoneurons. The skeletal muscles and the tongue showed neurogenic muscular atrophy with fatty replacement. Testicular atrophy was prominent showing hyalinized seminiferous tubuli with nodular and diffuse Leydig cell hyperplasia, containing estrogen immunoreactive substance. These clinical and histological features seemed to be highly compatible with those of Kennedy-Alter-Sung type bulbo-spinal muscular atrophy. The involvement of sensory peripheral nerves, however, was a distinct feature of this family.     

Endothelial specular microscopy in children with retrolental fibroplasia undergoing open-sky vitrectomy

Thirty-three patients aged 4 to 63 months with extensive retinal detachment due to cicatricial retrolental fibroplasia (RLF) and two non-RLF patients aged 26 and 81 months with normal corneas underwent specular microscopy and ultrasonic pachymetry during examination under anesthesia. Thirty-six eyes of preoperative RLF patients without anterior synechiae and 4 eyes of the two non-RLF patients had high endothelial cell density (ECD) of 5,105 +/- 790.4/mm2 (mean +/- SD) and 4,377 +/- 141.7/mm2, respectively, and increased corneal thickness. The ECD value showed significant negative correlation with vertical corneal diameter (P less than 0.005), but not with age. The ECD values, corrected to average adult corneal size, were 3,900 +/- 550/mm2, which were close to values extrapolated from adult ECD data. The average cell loss for 10 eyes undergoing specular microscopy before and after open-sky vitrectomy was 15%, but 8 of these eyes showed an unchanged ECD ratio of 0.79-1.3 between the two measurements. Furthermore, 17 eyes which were examined only postoperatively also showed a high average ECD of 4,175 +/- 1,012/mm2.     

Prevalence of Antibody against Non-A, non-B Hepatitis Virus in Japanese Patients with Hepatocellular Carcinoma

Antibodies against a possible causative agent of non-A, non-B hepatitis, hepatitis C virus (HCV), in Japanese patients with hepatocellular carcinoma were analyzed using the enzyme-linked immunosorbent assay (ELISA) system from Ortho Diagnostic Systems, Japan. Fifty of 58 cases of hepatitis B virus surface antigen (HBsAg)-negative hepatocellular carcinoma were positive for the antibody (86%) and 8 of 42 cases of HBsAg-positive hepatocellular carcinoma were positive (19%). Among patients with HBsAg-negative hepatocellular carcinoma, the prevalence of the antibody was greater among those who had received a blood transfusion (97%) than among those with no history of transfusion (70%). Only 3 of 54 patients with cancers other than hepatocellular carcinoma were found to be antibody-positive (5.6%) and all three patients had a history of blood transfusion. These results show a close relationship between the presence of anti-HCV antibody and HBsAg-negative hepatocellular carcinoma in Japan.     

A Simple, General Method for Detecting Retroviral RNAs Expressed in Cells

A simple, efficient method has been developed for detecting retroviral RNAs expressed in cells. In this method, total RNAs or poly A⁺ RNAs extracted from various human cells are separated by electrophoresis and hybridized with synthetic oligonucleotides corresponding to the 3'-terminal 18 nucleotides of various tRNAs. Genomic and subgenomic RNAs of HTLV-I and HTLV-II in virus-infected cells and of xenotropic murine leukemia virus expressed in human lung cancer cells were easily detected with the tRNA^Pro-derived oligonucleotide probe. This technique can be used to search for unidentified retroviruses expressed in human cancer cells and tissues.     

Modification of N-methyl-N'-nitro-N-nitrosoguanidine-induced forestomach and glandular stomach carcinogenesis by phenolic antioxidants in rats

The modifying effects of five phenolic antioxidants on N-methyl-N'-nitro-N-nitrosoguanidine (MNNG)-initiated forestomach and glandular stomach carcinogenesis were investigated in male F344 rats. Groups of 20 rats were given an intragastric dose of 150 mg/kg body weight MNNG, and starting from 1 week later received diet supplemented with 0.8% catechol (CC), 1.0% 2-tert-butyl-4-methylphenol, 1.5% p-tert-butyl-phenol, 1.5% methylhydroquinone, 1.5% 4-methoxyphenol (4MP), or basal diet alone for 51 weeks. Further groups of 10-15 rats were maintained as controls without prior treatment with MNNG. The incidences of squamous cell carcinoma of the forestomach in MNNG-treated animals were significantly elevated by the diets containing CC (P less than 0.001), 2-tert-butyl-4-methylphenol (P less than 0.001), or p-tert-butylphenol (P less than 0.01), while the development of carcinoma in situ was inhibited by 4MP (P less than 0.01). Treatment with CC, 2-tert-butyl-4-methylphenol, p-tert-butylphenol, or 4MP alone induced forestomach hyperplasia at incidences of 86.7, 40, 93.3, and 100%, respectively. In the pyloric region of the glandular stomach, the development of adenomatous hyperplasia and adenocarcinoma after MNNG treatment was significantly enhanced by diet containing CC (P less than 0.001). Moreover, treatment with CC alone induced 100% adenomatous hyperplasia and induced adenocarcinoma in 20% of animals. These results clearly demonstrated that while antioxidants causing proliferation in forestomach epithelium can markedly enhance carcinogenesis in this tissue, others displaying the same or greater potential for generating a hyperplastic response, like 4MP, can exert an inhibitory effect. In addition, it was shown that CC, which is widely present in our environment, is an unequivocal glandular stomach carcinogen also possessing strong enhancing activity for MNNG-induced lesion development.