Two Autopsied Cases of Familial Sudanophilic Leukodystrophy

Abstract: Two autopsied female sibling cases of sudanophilic leukodystrophy are reported. Case A and case B were the second and third of seven siblings, and a sister and a brother died from severe progressive neurological disease with similar symptoms. Consanguineous marriages were noted in the family of both cases through the past three generations. Case A gradually developed intellectual deterioration and tetraplegia at the age of 29, progressed to akinetic mutism within one year and thereafter survived for 14 years. Neuropathologically, a severe atrophy and degeneration were noted in the white matter of the whole cerebrum, sparing the subcortical U-fibers. Myelin and axons were severely damaged with peripheral astrocytic gliosis. Case B developed similar clinical symptoms at the age of 20 and survived for 7 years in the state of akinetic mutism. Similar postmortem findings as those of case A were found in the white matter of the cerebrum with formation of sudanophilic breakdown products and with thick fibrillary gliosis. The pyramidal tract was completely degenerated. There was no accumulation of abnormal lipid in the brains of both cases.     

Bacterial superantigen enhances cytokine production by T-helper lymphocyte subset-2 cells and modifies glomerular lesions in experimental immunoglobulin a nephropathy

Background The purpose of this study was to examine the effects of bacterial suporantigens, which can derange the immune response and contribute to the renal lesions of immunoglobulin A (lgA) nephropathy. Methods Twenty-five micrograms of a bacterial superantigen, staphylococcal enterotoxin B (SEB), was injected into IgA nephropathy-prone ddY mice intrathymically when they reached 6 weeks of age. Evaluation included measurement of albumin excretion in urine, immunoglobulin concentration, and lymphokine production in vitro, as well as analysis of T-cell receptor expression in splenic T-cell subsets and examination of renal histology by light and fluorescence microscopy. Results At 40 weeks of age, the serum level of IgA in these mice was substantially increased and the number of Vβ8⁺ CD4⁺splenic T-cells was significantly decreased compared with measurements in untreated controls. Both control and SEB-treated mice excreted less than 30 μg/mL of urinary albumin. In mice given SEB, the amount of interleukin 2 (IL-2) and tumor necrosis factor-α (T helper 1 [Th1]-type cytokines) produced by the in vitro-stimulated lymphocytes significantly decreased. whereas that of interleukin 4 (IL-4) and interleukin 6 (IL-6) (Th2-type cytokines) markedly increased compared with measurements in control mice. At 40 weeks of age, mice given SEB showed marked glomerular hypercellularity and enhanced glomerular C3 deposition by renal histology, compared with control mice. Conclusion These results suggest that bacterial superantigen SEB may modify glomerular lesions through activating Th2 cells, while inducing deletion of Th1 cells in this experimental model.     

Congenital esophageal atresia successfully treated by early ligation of a tracheoesophageal fistula and delayed repair of the esophagus in a premature infant: Report of a case

We report herein the case of a premature infant with esophageal atresia (EA) and a tracheoesophageal fistula (TEF) associated with cardiac anomalies who was successfully treated by an early ligation of the TEF following gastrostomy, and delayed repair of the esophagus. A 1212-g male was born prematurely at 31 gestational weeks, at which time he was diagnosed as having EA with TEF and patent ductus arteriosus (PDA), ventricular septal defect (VSD), and atrial septal defect (ASD). A gastrostomy was initially performed but following extubation he gradually became tachypneic. A chest roentogenogram revealed atelectasis and ground-glass appearance, and reintubation was required. Ligation of the TEF was performed 53h after his birth. Following the improvement of his respiratory condition through ventilatory support and the intratracheal administration of pulmonary surfactant, he underwent repair of the esophagus on the 6th day of life. Postoperatively, he suffered from heart failure, but was treated with peritoneal dialysis and pharmacological closure of the PDA. Weaning the infant from the ventilator proved difficult, but it was finally achieved when he had reached a weight of 2268g at 3 months of age by enteral feeding. Our experience of this case demonstrates that early ligation of TEF should be performed for a premature infant with EA and TEF before respiratory distress syndrome (RDS) has developed. If a gastrostomy is required to prevent gastric distention, it should be followed by simultaneous or immediate ligation of the TEF.     

Surgical treatment of patients with psychiatric disorders: A review of 21 patients

Between January 1985 and September 1994, 21 patients with psychiatric disorders underwent various forms of surgery at our hospital. There were 12 men and 9 women with an average age of 57.6 years. The coexisting psychiatric disorders were schizophrenia in 15 patients, depression in 2, dementia in 2, mental retardation with epilepsy in 1, and Parkinson's disease in 1. All the patients had been receiving neuroleptic medications for a long period. The indications for surgery were: cholelithiasis in 6 patients, acute appendicitis in 4, perforation of the small intestine in 3, incarceration of an inguinal hernia in 2, and esophageal cancer, stomach cancer, bleeding from a gastric ulcer, perforation of a duodenal ulcer, strangulating ileus, and burns in 1 patient each, respectively. All of the patients who underwent elective surgery were given epidural anesthesia with or without general anesthesia. Antipsychotic medications were given until just prior to surgery and recommenced concurrent with the first meal. Abnormal behavior was observed in 11 patients (52.4%) postoperatively, but all the patients were discharged in accordance with recovery from their surgical disorder. Intra- and postoperative hypotension resistant to intravenous catecholamine administration was recognized in 9 patients (42.9%), and this peculiar complication should be borne in mind when patients with psychiatric disorders require surgical management. Presented at the 94th annual meeting of the Japanese Surgical Society, held in Tokyo in March, 1994     

Biliary cystadenoma with mesenchymal stroma of the liver: Correlation between unusual MR appearance and pathologic findings

We reported a case of the biliary cystadenoma of the liver. The cystic mass had labulation and septation and showed marked hyperintensity on T1-weighted images and hypointensity on T2-weighted images; MR findings were very unusual for cystadenoma. The content of the cystic mass was jelly-like, thick mucinous fluid without intracystic hemorrhage. We concluded that these unusual signal intensities of the cyst were due to hyperproteinous mucinous fluid.     

Familial occurrence of differentiated,nonmedullary thyroid carcinoma

Familial occurrence of differentiated, nonmedullary thyroid carcinoma in 23 patients from 11 families is reported. Five patients were male and 18 were female. The familial relationship of patients was parent and child in 12 cases from 6 families, and siblings in 11 cases from 5 families. Carcinoma of other organs was noted in other members in 8 families. Histological examination revealed 18 papillary, 2 follicular, and 2 anaplastic carcinomas (the 2 anaplastic carcinomas were considered to be transformed from preexisting differentiated carcinoma). In 1 case, the histological type was unknown. The average diameter of the primary lesion was 29.9 mm. Cervical lymph node metastasis was found in 77.8% and local recurrence in 28.6% of the patients. Solid and invasive growth was dominant. On HLA typing, phenotypes of B₇ and DR₁ were significantly redominant in familial patients compared with nonfamilial patients and normal Japanese. Moreover, the haplotype of B₇-C_w7-DR₁ was observed in 5 of 13 patients tested. It is suggested from these observations that some types of differentiated, nonmedullary thyroid carcinoma may show familial occurrence and that they may have common factors with regard to the genetic and immunologic basis of the disease.

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Resumen Se informa la ocurrencia familiar de carcinoma bien diferenciado, no medular, de tiroides en 23 pacientes provenientes de 11 familias, 5 hombres y 18 mujeres. La relación familiar fue padre e hijo en 12 casos de 6 familias, y hermanos en 11 casos de 5 familias. Se observé la presencia de carcinoma de otros órganos en otros miembros de 8 familias. El examen histopatológico reveló 18 carcinomas papilares, 2 foliculares, y 2 anaplásicos (los 2 fueron considerados como transformación de carcinomas diferenciados preexistentes). En un caso no fue conocido el tipo histológico. El diámetro promedio de la lesión primaria fue 29.9 mm. Se hallaron metástasis en ganglios cervicales en 77.8% de los pacientes y recurrencia local en 28.6%. El crecimiento sólido e invasivo apareció como característica dominante. En la tipificación HLA aparecieron como significativamente predominantes los fenotipos de B₇ y DR₁ en pacientes familiares en comparación con pacientes no familiares y japoneses normales. Por otra parte, el halotipo de B₇-C_W7-DR₁ fue observado en 5 de 13 pacientes investigados.Como resultado de estas observationes se sugiere que algunos tipos de carcinomas diferenciados, no medulares, pueden demostrar ocurrencia familiar y que pueden poseer factores comunes relacionados con las bases genéticas e inmunológicas de la enfermedad.

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Résumé On a étudié les caratéristiques du cancer de la thyroïde, dans sa variété différenciée non médullaire, survenu chez 23 patients provenant de 11 familles. Cinq patients étaient des hommes, 18 des femmes. La relation familiale était parent/enfant dans 12 cas provenant de 6 familles, et frère/soeur dans 11 cas provenant de 5 familles. Des membres de 8 autres familles présentaient un cancer d'un autre organe. Il y avait 18 cancers papillaires, 2 cancers folliculaires, et 2 cancers anaplasiques (on a considéré que les 2 cancers anaplasiques étaient des transformations à partir de cancers différenciés préexistants). Dans un cas, le type histologique était inconnu. Le diamètre moyen de la lésion primitive était de 29.9 mm. On a retrouvé des métastases ganglionnaires cervicales chez 77.8% des patients et une récidive locale chez 28.6%. Les tumeurs étaient principalement solides et invasives. Par rapport aux cancéreux non familiaux et à la population japonaise normale, il y avait plus de phénotypes B₇ et DR₁ au système HLA. L'haplotype B₇-C_W7-DR₁ était observé chez 5 des 13 patients testés.On suggère que certains types de cancer différenciés, non médullaires, ayant des facteurs communs génétiques et immunologiques, peuvent survenir dans une même famille.

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Presented at the International Association of Endocrine Surgeons in Sydney, Australia, September, 1987.     

Divergent expression and localization of aquaporin 5, an exocrine-type water channel,in the submandibular gland of Sprague-Dawley rats

By Western blot analysis, the expression level of aquaporin (AQP) 5 in the submandibular gland (SMG) was found to be different among individual rats of the Sprague-Dawley (SD) strain. Such differences were observed for AQP5 but not for AQP1 and consequently the SD strain was divided into two groups, one expressing a high level of AQP5 and the other a low one. The difference in average intensity of expression between the two groups was more than twofold. Immunohistochemical analysis of the SMG demonstrated that the AQP5 protein was localized in the basal and apical/lateral plasma membrane of acinar cells in rats expressing the high level of AQP5. In the rat expressing the low level, however, this channel protein was localized strongly in the apical/lateral plasma membrane, but only very weakly in the basal membrane of the acinar cells. Such a diverse localization of AQP5 was confirmed by Western blotting as well. Breeding between brother and sister was repeated for two times within high expressers and low expressers to obtain the third generation progenies (F2); the AQP5 level of the SMG in the third generation (F2 rats) from high expressers was significantly higher than the F2 from low expressers. Our present study suggests the existence of genetic variation in the expression of a water channel protein, AQP5, in rats.     

No association between the Pro197Leu polymorphism in the glutathione peroxidase (GPX1) gene and schizophrenia

OBJECTIVE: Oxidative stress such as free radical-mediated neuronal dysfunction may be involved in the pathophysiology of schizophrenia. The human glutathione peroxidase (GPX1) is a selenium-dependent enzyme, which plays an important role in the detoxification of free radicals. We therefore hypothesized that the GPX1 gene, which is located on chromosome 3p21.3, may be involved in the pathophysiology of schizophrenia. The aim of this study is to examine whether a potentially functional polymorphism, a proline (Pro) to leucine (Leu) substitution at codon 197 (Pro197Leu) of the human GPX1 gene, is associated with susceptibility to schizophrenia. METHODS: We genotyped the Pro197Leu polymorphism in a total of 113 nuclear families that had a proband with schizophrenia. Genetic association was tested using the transmission disequilibrium test (TDT), the sib transmission disequilibrium test (STDT), and the family-based association test (FBAT). RESULTS: The minor allele (Leu) frequency was calculated to be 0.282. We could not find significant transmission disequilibrium of the alleles for the Pro197Leu polymorphism in the GPX1 gene in association with the presence of schizophrenia in our family sample (TDT, chi2=0.03, degrees of freedom=1, P=0.86; combined TDT-STDT, Z'=-0.052, P=0.47; FBAT, Z=0.000, P=1.000). CONCLUSION: The results of this study suggest that the GPX1 polymorphism is unlikely to be associated with susceptibility to schizophrenia.