Biomedical subjects

Tohru Sugimoto

Publications and source records attributed to Tohru Sugimoto.

44 records · Page 3Linked to original sources

PubMed2003

Ring chromosome 14 with localization-related epilepsy: three cases.

Three patients showing epileptic seizures and with mosaicism of ring chromosome 14 and monosomy for chromosome 14 are described. Patients were a 17-year-old boy, karyotype 46, XY, r(14)(p12q32.33)/45, XY, -14, a 7-month-old boy, karyotype 46, XY, r(14)(p11.2q32.33)/45, XY, -14, and a 10-month-old boy, karyotype 46, XY, r(14)(p12q32.31)/45, XY, -14. Microcephaly and alopecia were observed in the first patient. However, few dysmorphic features were found typical of ring 14 chromosome. He had exhibited complex partial seizures with secondary generalization at age 3 months and had mild motor and mental retardation. Both other patients had atonic seizures followed by staring, perioral cyanosis, and respiratory arrest at age 7 or 8 months. Both also showed mild developmental delay and had a few minor anomalies compatible with ring 14 chromosome. Interictal spikes were observed in the second patient in the right occipital region, whereas an interictal encephalogram of the third patient showed sporadic spikes in the left central region. In all three cases, seizures were resistant to common antiepileptic drugs.

Adolescent↗

PubMed2003

Infantile spasms in a patient with williams syndrome and craniosynostosis.

A patient with Williams syndrome, craniosynostosis, and infantile spasms is described. At age 6 months, the infant demonstrated infantile spasms and craniosynostosis and was operated on for craniosynostosis and treated with adrenocorticotropic hormone (ACTH) for the infantile spasms. ACTH completely controlled the seizures, but was halted because of the progression of ventricular hypertrophy. The seizure returned, and he was found to have elfin face, failure-to-thrive, developmental delay, and dental malformation in addition to congenital heart defects. High-resolution chromosome analysis revealed interstitial deletion of 7q11.22-q11.23. Therefore his clinical and cytogenetic diagnosis was Williams syndrome. Thyrotropin-releasing hormone (TRH) therapy reduced his seizures and improved the findings of EEG without cardiac side effects. In addition, his psychomotor development was slightly improved.

Adrenocorticotropic Hormone↗

PubMed2003

Regression of refractory rhabdomyosarcoma after allogeneic stem-cell transplantation.

A 17-year-old girl developed refractory rhabdomyosarcoma. An allogeneic peripheral-blood stem-cell transplant was performed after a myeloablative regimen. Although rapid disease progression had resolved transiently, after the start of high-dose chemotherapy, re-progression was apparently observed from day 14. However, delayed tumor regression occurred on day 30, shortly after the reduction of immunosuppressants. She achieved a partial remission. The second tumor regression provides suggestive clinical evidence that graft-versus-tumor effect may occur against rhabdomyosarcoma. Although further investigation is required, allogeneic stem-cell transplantation could provide a new therapeutic option for refractory rhabdomyosarcoma.

Adolescent↗

PubMed2003

Theoretical research on structures of gamma-aminobutyric acid and glutamic acid in aqueous conditions.

Even though glutamic acid contains only one more carboxyl group than gamma-aminobutyric acid (GABA), these neurotransmitters are recognized by their own specific receptors. To understand the ligand-recognition mechanism of the receptors, we must determine the geometric and electronic structures of GABA and glutamic acid in aqueous conditions using the ab initio calculation. The results of the present study showed that the stable structure of GABA was the extended form, and it attracted both cations and anions. Glutamic acid only attracted cations and was stabilized in four forms in aqueous conditions: Type 1 (an extended form), Type 2 (a rounded form), and Types 3 and 4 (twisted forms of Type 1). The former two types had low energy and the energy barrier between them was estimated to be small. These results showed that most free glutamic acid is present as Type 1, Type 2, and transient forms. The present results therefore suggest that the flexibility of the geometric structures of ligands should be taken into account when we attempt to elucidate the mechanism of recognition between ligands and receptors, in addition to the physicochemical characteristics of ligands and receptors.

Glutamic Acid↗

PubMed2003

Yellow fluorescent protein-tagged and cyan fluorescent protein-tagged imaging analysis of glucocorticoid receptor and importins in single living cells.

Glucocorticoid receptor (GR) acts as a ligand-dependent transcription factor after nuclear transport from the cytoplasm in the liganded state. Importins are docking proteins for karyopherin-mediated binding of substrate in a nuclear import pathway. To investigate the spatial and temporal relation between GR and importins, we analyzed the subcellular distribution of GR and importins in response to ligand in single living cells using fusion proteins labeled with different spectral variants of green fluorescent protein. Upon activation with ligand treatment, fluorescent protein-tagged (FP-) GR was translocated from the cytoplasm to the nucleus, showing a similar time course as FP-importin-alpha in the coexpressed cells with the fusion proteins. In contrast to FP-importin-alpha, the distribution of FP-importin-beta was little changed upon ligand treatment in the coexpressed cells with FP-GR and FP-importin-beta. Analysis using fluorescence resonance energy transfer proved that GR directly interacted with importin-alpha in the whole area of the cytoplasm upon ligand treatment and detached importin-alpha shortly after nuclear import. However, direct interaction between GR and importin-beta was not detected. These studies showed visual evidence of the nuclear importing of GR in association with importin-alpha in single living cells.

Amino Acid Sequence↗

PubMed2002

Newly established clear cell sarcoma (malignant melanoma of soft parts) cell line expressing melanoma-associated Melan-A antigen and overexpressing C-MYC oncogene.

Clear cell sarcoma (CCS), malignant melanoma of soft parts, is a rare malignant tumor with a poor prognosis. In this study, a CCS cell line, designated MP-CCS-SY, was established from a metastatic tumor of a 17-year-old Japanese girl that originated in the left Achilles tendon. A small number of melanosomes were detected in the cytoplasm by electron microscopy. The melanosomes immunoreacted with two melanoma-associated antibodies, HMB45 and Melan-A. A Western blot demonstrated the existence of a Melan-A antigen in this cell line. Although a t(12;22)(q13;q12), which is characteristic of CCS, was not identified by a chromosomal analysis with conventional banding techniques, fluorescence in situ hybridization analysis with painting probes of chromosomes 12 and 22 revealed the insertion of a chromosome 12 fragment into one of the long arms of chromosome 22. The chimeric EWS/ATF1 transcript was detected by the reverse transcriptase polymerase chain reaction. Extra copies and structural abnormalities of chromosome 8 were observed. Overexpression of c-myc mRNA was detected by Northern blot analysis and may have a role in malignant progression of CCS. The availability of this MP-CCS-SY cell line will help to understand the molecular biology of this malignancy and should be useful as a tool for developing an immunotherapy.

Achilles Tendon↗

PubMed2002

Frequent co-expression of HoxA9 and Meis1 genes in infant acute lymphoblastic leukaemia with MLL rearrangement.

We studied the expression of HoxA9 and Meis1 by reverse transcriptase-polymerase chain reaction analysis in leukaemic cells from cases of infant acute lymphoblastic leukaemia (ALL, n = 27) and childhood ALL (n = 29). These two genes were co-expressed significantly more frequently in infant ALL than in childhood ALL (19/27 vs0/29 cases, P < 0.001) and were highly associated with MLL gene rearrangement in infant ALL cases (P < 0.001). These findings indicate that the HoxA9 and Meis1 genes are closely associated with MLL gene rearrangement in the development of infant ALL, which represents a distinct entity of childhood ALL.

Chromosomes, Human, Pair 11↗

PubMedDate not supplied

Successful autologous peripheral blood stem cell transplantation with rituximab administration for pediatric diffuse large B-cell lymphoma.

A 13-year-old boy with chemotherapy-resistant diffuse large B-cell lymphoma (DLBCL) was successfully treated with autologous peripheral blood stem cell transplantation (auto-PBSCT) with administration of rituximab. Previous reports indicate that auto-PBSCT without rituximab for adult chemotherapy-resistant DLBCL is only marginally successful. The addition of rituximab administration might have intensified anti-tumor activity before the transplant procedure and might have enhanced the in vivo purging of the auto-graft, resulting in a successful outcome in this case. Although a few adverse effects are linked to rituximab administration, such as prolonged neutropenia, hypogammaglobulinemia, and increased infectious complications, the regimen of rituximab with SCT appears to be effective against chemotherapy-resistant DLBCL.

Adolescent↗