A case of hereditary motor and sensory neuropathy type III with a decrease in unmyelinated fibers

We report a 3-year-old girl with hereditary motor and sensory neuropathy type III with a decrease in unmyelinated fibers. There have been few reports of such cases. The present findings suggest the possibility that the primary lesion in this disease is in the axons. We consider that more attention should be paid to the changes in unmyelinated fibers and axons in further studies on this disease.     

Characterization of peptide components in the venom of the scorpion Liocheles australasiae (Hemiscorpiidae).

Scorpion venoms are composed of a number of neurotoxic peptides. A variety of toxins have been isolated from the venoms of scorpions of the family Buthidae, however, little interest has been paid to non-Buthidae scorpions. In this study, we examined the toxicity of the venom of Liocheles australasiae (Hemiscorpiidae) to mice and crickets, and characterized the peptide components by HPLC and mass spectrometry. Over 200 components were detected in the L. australasiae venom by LC/MS analysis, with components of molecular masses ranging from 500 to 5000 Da being particularly abundant. A number of peptides contained two to four disulfide bridges, which was estimated based on the mass difference after derivatization of Cys residues. A peptide having a monoisotopic molecular mass of 7781.6 Da and four disulfide bridges was isolated from the venom. The peptide has a primary structure similar in terms of the position of eight Cys residues to those observed in several peptides found from scorpions, ticks and insects, although biological roles of these peptides are unknown.     

Transforming growth factor J3 type II receptor (TGFpRII) mutation in gastric lymphoma without mutator phenotype

A new mutation in the serine-threonine klnase domain of the transforming growth factor β type II receptor (TGFpRII) was found in a case of diffuse, B cell non-Hodgkin's lymphoma of the stomach. A mfssense mutation (ACA to GCA, Thr to Ala) was detected In exon 5, and a wild type allele was also present. This Is the first naturally occurring mutation in the klnase domain of this gene identified in human primary lymphoma. The replication error at three loci was negative, and the poly A tract of exon 3, which is frequently a target of mismatch repair genes, was intact. Malignant lymphoma of B cell origin in the stomach Is an addition to an expanding catalogue of tumors with TGFβRII alterations, and the biological sequelae of the change in the functional domain and the clinical characteristics of the patient in this study are intriguing.     

Monoclonal antibodies against synthesized short peptides corresponding to human AA amyloid protein

Monoclonal antibodies (McAbs) were raised against the synthesized short peptides corresponding to 37-47 residues in amino acid sequence of human AA protein. The McAbs reacted immunohistochemically to amyloid tissues from cow, mouse, swan, and human AA amyloidosis. We concluded that the McAbs were useful for identification of AA type amyloidosis of various species, and that the 37-47 residues were effective antigenic sites in AA protein.     

T-cell-specific expression of kinase-defective Eph-family receptor protein, EphB6 in normal as well as transformed hematopoietic cells

Although most kinase-defective growth factor receptor proteins are associated with pathogenic conditions, a kinase-defective Eph-family receptor protein, EphB6, is expressed in normal human tissues. We generated monoclonal antibodies specific for human EphB6 to characterize its expression on human hematopoietic cells. A very small population of normal human peripheral white blood cells (0.57 +/- 0.07%, n = 12) expressed EphB6. The EphB6-positive cells were CD2+, CD7+, CD3+ and CD4+ or CD8+ lymphocytes, but they did not express CD19 or CD11b. In human bone marrow, only 1.5 +/- 0.19% of lymphocytes expressed EphB6. Compared with the expression in peripheral lymphocytes, prominent expression of EphB6 protein was demonstrated in CD4+CD8+ double-positive mouse thymocytes. The T-cell lineage-specific expression was strictly conserved in human leukemia/lymphoma cells. Among T-cell-derived leukemia cells, the expression level of EphB6 seemed to decrease with maturation of the cells. These results suggest that EphB6 expression is regulated in T-cell development.     

Primary adenocarcinoma of the female urethra with three histologic patterns and partial AFP positivity.

A rare case of adenocarcinoma of the female urethra with alpha-fetoprotein (AFP) positivity in a 52-year-old woman is reported. The tumor was papillary polypoid, localized in the posterior wall of the mid-urethra and microscopically showed three histologic components. Upon immunostaining and histochemical staining, the tumor was characterized by intestinal-type cells positive for epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA), EMA-negative and AFP-positive columnar vacuolated cells and mainly EMA-positive clear cells. On the basis of these features together with the known embryogenesis of the urethra, an endodermal origin of the tumor is suggested, possibly arising from the reserve or stem cells in the urethral mucosa. This case and its immunohistochemical features are quite unique and the histologic combination is meaningful when considering the oncogenesis and histogenesis of urethral tumors.     

The relation between superoxide dismutase in cancer tissue and clinico pathological features in breast cancer

The localization of Cu/Zn- and Mn-superoxide dismutase (SOD) in breast cancer tissue (12 papillotubular carcinomas, 21 solid-tubular carcinomas, 16 scirrhous carcinomas, 1 medullary carcinoma, 1 secreting carcinoma, 1 lobular carcinoma, 1 Paget's disease) was investigated via an immunohistochemical technique using antihuman Cu/Zn- and Mn-SOD antibodies in 10%formalin fixed-paraffin embedded thin sections. Both SODs stained strongly in the normal breast gland, but not clearly in many cancer tissues. Furthermore, Cu/Zn-SOD stained more strongly in well differentiated tubular carcinomas than in poorly differentiated tubular carcinomas. It tended to stain less in tumors which recurred or had a poor outcome, and in tumors with a diploid pattern on DNA flow cytometry. Mn-SOD staining was similar to that of Cu/Zn-SOD, but no significant differences among subgroups was found, since the incidence of positively staining tumors was too small in all groups. The intensity of SOD staining seems to change in relation to cell proliferation and differentiation in breast carcinoma, and may be a prognostic indicator, since SOD decreased in poorly differentiated carcinoma and in tumors which developed distant metastasis. Thus, the localization of SOD in breast cancer tissue can provide useful information for cancer treatment.     

An experience of indwelling of a urethral stent (Urolume Wallstent) for urethral stricture accompanying pelvic fracture in a young man

The patient was a 15-year-old boy, who sustained pelvic fracture and complete disruption of the urethra in a traffic accident. The previous doctor performed two-staged treatment for complete disruption of the urethra, which ended in postoperative urethral stricture. We performed two sessions of endoscopic operations and a pull-through procedure, but the procedures were not effective. Five years later, a urethral stent was indwelt. Urolume Wallstent of AMS, Co, Ltd. was used as the urethral stent. At 4 months, the stent started to be enveloped in the urethral epithelia and no complications have been found in particular. However, detention of a permanent-type stent in a young man such as ours remains a controversial issue and long-term follow-up is needed.