Masuji Morita

Transmission of a t(13q22q) chromosome observed in three generations with segregation of the translocation D1-trisomy syndrome

SummaryA case of an inherited type of D/G translocation D1-trisomy syndrome was described. A female proposita who had the clinical signs of D1-trisomy syndrome was found to have a chromosome complement of 46,XX,-G,+t(DqGq). Examination of Q- and G-stained karyotypes revealed that the chromosomes involved in the translocation were members of Nos. 13 and 22, or t(13q22q) with breaks at p12 of both chromosomes. C-stained figures also showed a large heterochromatin block in its centromeric region. The t(13q22q) chromosome was transmitted from the paternal grandmother of the proposita through at least three generations.

Partial 18 trisomy syndrome resulting from paternal 6/18 reciprocal translocation

SummaryA female infant with distal 18q trisomy, confirmed by G- and Q-banding was reported. Her karyotype was 46,XX,−6,+der(6), t(6;18) (18qter→18q21::6p24 or 25→6pter)pat. She had the following clinical stigmata: hypertelorism, coloboma, bulbous nose with shallow nasal bridge, high arched palate, small chin, folds of redundant nuchal skin, hemangioma and limited abduction of the hip joints.

Trisomy for the long arm of the chromosome 18 due to de novo 18/21 translocation

SummaryA case of de novo 18/21 translocation resulting in 18q trisomy was described. Based on both G-and C-bandings, the patients karyotype was identified as 46,XX, t(18;21) (p11;q11). Her clinical feature fullfilled almost all criteria of the 18 trisomy syndrome reported.

Staining properties of a benzimidazol derivative “33258 hoechst” and a simplified staining method for chromosome banding

SummaryTo obtain good chromosome banding with “33258 Hoechst,” various conditions were examined. For fluorescence microscopy, an UV filter for excitaion and a BV filter for emission were selected from spectrofluorometric examination. “33258 Hoechst” was dissolved in distilled water and good chromosome banding was obtained when slides were stained at room temperature, for 10 to 20 minutes at the concentration between 4 μg/ml to 0.2 μg/ml of this dye. The aging of slides before and after staining was shown to be another important factor. Chromosome banding revealed with “33258 Hoechst” represents chromosome banding corresponding to both Q-and C-bandings in a very simple way. The mechanism of chromosome banding with “33258 Hoechst” is briefly discussed.

Long-term molecular remission after nonmyeloablative stem cell transplantation in a patient with chronic myelogenous leukemia in the chronic phase.

cytogenetic analysis demonstrated the Philadelphia (Ph) chromosome in 100% metaphases. A diagnosis of CML was made and hydroxyurea at 40 mg/kg and interferon· 2b at 4 MU/m 2 s.c. were initiated until the WBC count was normalized. Afterwards, hydroxyurea was given for at least 10 months, whereas interferon treatment was stopped for 2 months because of the appearance of melancholia. Considering his age, we performed a nonmyeloablative peripheral blood SCT from his HLA-identical brother in November 2001. The conditioning regimen consisted of fl udarabine at 30 mg/m 2 i.v. on days –8 to –3 and busulfan p.o. at 4 mg/kg in divided doses. To prevent graft-versus-host disease (GVHD), cyclosporin A was administered starting on day –1 at 3 mg/kg per day as a continuous intravenous infusion and methotrexate at 10 mg/m 2 i.v. on day 1 and at 7 mg/m 2 i.v. on days 3 and 6. The dose of total CD34+ cells infused was 2.7 ! 10 6 /kg recipient weight. Posttransplant hematological recovery was prompt. Neutrophils reached 6 0.5 ! 10 9 /l by day 11 and platelets 6 50 ! 10 9 /l by day 14. The chimerism evaluated by PCR for microsatellite regions showed that peripheral blood mononuclear cells were 100% donor type on day 58. Cytogenetic analysis of bone marrow asSeveral groups have explored a nonmyeloablative conditioning regimen for patients ineligible for myeloablative stem cell transplantation (SCT). The use of nonmyeloablative regimens reduces the risk of treatment-related toxicity and can extend the use of allotransplantation for older patients [1] . This approach allows engraftment and generation of graft-versus-leukemia effects. Nonmyeloablative SCT for chronic myelogenous leukemia (CML) is being evaluated in this context and may successfully replace myeloablative SCT [2] . We successfully performed a nonmyeloablative SCT in an elderly patient with chronic phase CML, who had been forced to stop interferon· because of side effects. A 57-year-old man with a cough and fever was admitted in January 2001. The physical examination did not reveal hepatosplenomegaly. His peripheral blood cell count revealed Hb 10.7 g/dl, platelets 2,056 ! 10 9 /l, WBC 74.21 ! 10 9 /l, myeloblasts 2.5%, promyelocytes 1.0%, myelocytes 5.0%, metamyelocytes 12.0%, bands 24.5%, segments 27.5%, eosinophils 10.0%, basophils 10.0%, monocytes 2.0%, and lymphocytes 5.0%. Bone marrow aspirate showed hypercellularity (nucleated cell count 480 ! 10 9 /l), increased to a 66.0% myeloid lineage with 8.0% eosinophils and 8.8% basophils. Bone marrow Received: November 17, 2003 Accepted after revision: April 5, 2004

Outlook for a database system in gastroenterology from a health care standpoint

ConclusionWhen medical information databases for gastroenterological diseases are considered, not from the clinical standpoint but from that of health control, not only medical information such as test results and image information obtained after the disease occurs, but also information on the patients’ history prior to the disease is required. We studied the technical problems and management of the database, and the necessary kinds of general and specific information along with the amount of information stored in the database. The most current information management system is being introduced experimentally. Combination of individual control, distributive control, and common control is proposed as an ideal health control information system for the future.