A case of Turner syndrome with schizophrenia: Genetic relationship between Turner syndrome and psychosis

Abstract An 82-year-old woman with Turner syndrome and schizophrenia, and her 46-year-old daughter with schizophrenia are described. 45X/46XX chromosomal mosaicism was identified in the peripheral leukocytes of the mother, who showed several Turner dysmorphisms and cavum septi pellucidum in the brain. She had a normal reproductive life-span. The daughter resembled the mother in terms of schizophrenic symptoms, but she did not show any signs of Turner dysmorphism or chromosomal abnormality. The phenotype-karyotype relationship of Turner syndrome and the genetic relationship with psychosis are discussed.     

Persistent chorea following cardiac surgery for congenital heart disease

We describe a 6 year old girl with chorea following cardiac surgery, the first such report in Japan. The radical operation for total anomalous pulmonary venous return was carried out at the age of 11 months under hypothermia. Seven days after the operation, a sudden onset of irritability, dysphagia, chorea, generalized hypotonia, and complete external ophthalmoplegia were seen. These symptoms diminished gradually, but chorea remained. We speculated that the cause of chorea arose from the cardiac surgery under hypothermia. It is necessary to consider ‘cardiac surgery’ as one of the triggers of certain movement disorders including chorea. We tried treatment with haloperidol, pimozide, and several other drugs; only pimozide was effective in decreasing chorea without any side-effects.     

Long-term results of living kidney transplantation from HLA-identical sibling donors under calcineurin inhibitor immunosuppression

BACKGROUND: Recently, it has been revealed that alloantigen-independent causes are important factors for late graft loss in kidney transplantation. We compared the results of living kidney transplantation from HLA-identical siblings with those from HLA-non-identical siblings to analyse the impact of alloantigen-independent factors on long-term graft survival. METHODS: Two hundred and sixty-six recipients who were grafted from their siblings between 1983 and 2002 were subdivided into those transplanted from HLA-identical donors (n=86) and those from HLA-non-identical donors (n=180). RESULTS: The incidence of acute rejection was significantly lower in the HLA-identical group than in the HLA-non-identical group (9.3% vs 53.9%, respectively; P<0.0001). Graft survival was significantly higher in the HLA-identical group than in the HLA-non-identical group (91.3% vs 79.2% at 5 years, 80.3% vs 66.8% at 10 years and 59.1% vs 51.7% at 15 years, respectively; P=0.0372). Although acute rejection was not seen as a cause of graft loss in the HLA-identical group, death with functioning graft, recurrence of the original disease or chronic allograft nephropathy were observed as the major causes of graft loss in the late period of the HLA-identical group. CONCLUSION: We concluded that alloantigen-independent causes constitute a crucial factor for graft loss in the late period of HLA-identical kidney transplantation.     

A Case of Inflammatory Bowel Disease Accompanied by Myasthenia Gravis

Abstract: A 62-year-old female visited our unit complaining of persisting diarrhea. She underwent a thymectomy for myasthenia gravis (MG) and a thyroidectomy for malignancy at age 58, and she was treated medically for MG fbllowing surgery. She also received a partial ileo-colectomy because of an intramural suppurative abscess of the terminal ileum at age 60. In her laboratory data, the anti-acetylcholine receptor antibody and antinuclear antibody were positive, and IgG as well as IgA were a high titer. X-ray and endoscopic examinations revealed the presence of stiff and narrow lesions accompanied by longitudinal ulcers of the descending colon, and rough and granular mucosa of the rest of the colon and stomach. An elemental diet was not effective, but her condition was relieved by the oral administration of prednisolone. This case was considered a case of inflammatory bowel disease ac-companied by MG and systemic immunological disorders.     

Is the Histogenesis of 6-10 mm Early Colorectal Cancer Different from that of Larger Cancers?

Abstract: Out of a total of 466 cases of early colorectal cancer, we analyzed 139 cases with submucosal invasion (sm cancer) according to tumor size, gross appearance, depth and degree of invasion, and the presence of adenoma components. Early colorectal cancers 11 -20 mm in diameter were the most common lesion in this group, and the percentage with sm cancer increased with tumor size. More than 70% of relatively small sm cancers, 6-10 mm in diameter, had moderate or massive submucosal invasion similar to that found in large sm cancers. Only 35% of 6-10 mm cancers had an adenoma component; the majority (65%) had no adenoma component. In marked contrast, 63% of sm cancers 11 -20 mm in diameter had an adenoma component and in sm cancer the percentage of tumors composed solely of cancerous tissue without an adenoma component was low. Similar results were obtained when only protruding type sm cancers, which accounted for the majority of sm cancer cases, were included in the analysis. Therefore, we believe that the protruding type sm cancer 6-10 mm in diameter is at a stage close to advanced cancer. It is possible that many 6-10 mm sm cancers have a histogenesis different from that of large sm cancers.     

A Preliminary Report on Autologous Bone Marrow Transplantation for the Treatment of Advanced Non-Hodgkin's Lymphoma

Four patients with advanced non-Hodgkin's lymphoma of unfavorablehistology were treated with marrow-lethal doses of cyclophosphamide(CY) and total body irradiation (TB1) followed by the infusionof cryopreserved autologous marrow. All four patients showedengraftment after autologous bone marrow transplantation andachieved complete remission (CR). Three of them, however, developedrelapse in 1.7, 12.9 and 14.5 mo respectively after the transplantation.The other patient has survived in drug-free CR for more than16.6 mo. There was no treatment-related death although therewere some tolerable complications. These data suggest that theCY-TBI regimen may be effective in inducing CR in patients withadvanced non-Hodgkin's disease but it does not contribute topreventing relapse.     

STUDIES ON PEPTIDES LXXXI. Application of a New Arginine Derivative,NG-Mesitylene-2-Sulfonylarginine,to the Synthesis of Substance P and Neurotensin

A new devised arginine derivative, N^G-mesitylene-2-sulfonylarginine, Arg(Mts), was employed for the synthesis of hypothalamic substance P and neurotensin. The former was obtained in 74% yield by treatment of the protected undecapeptide amide, Z - Arg(Mts) - Pro - Lys(Z) - Pro - Gln - Gln - Phe - Phe - Gly - Leu - Met(O)-NH₂, with methanesulfonic acid in the presence of anisole followed by reduction of the sulfoxide with 2-mercaptoethanol. The latter was obtained in 54% yield by the similar treatment of the protected tridecapeptide ester, Z-Pyr-Leu - Tyr - Glu(OBzl) - Asn - Lys(Z)-Pro-Arg(Mts) - Arg(Mts) - Pro - Tyr-Ile-Leu-OBzl, with methanesulfonic acid. As scavenger, a mixture of anisole-thioanisole-o-cresol (1:1:1, by vol.) was employed to suppress the side reaction, O-mesitylene-2-sulfonation of the Tyr residue.