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Biomedical subjects

Y Sugio

Publications and source records attributed to Y Sugio.

At least 37 records · Page 2Linked to original sources
PubMed1999

Differential gene expression of human telomerase-associated protein hTERT and TEP1 in human hematopoietic cells.

The maintenance of telomere length is crucial for the survival of cells. Recently, genes for proteins that consist of human telomerase have been cloned and the results have indicated a close relationship between telomerase activity and its gene expression. We studied the mRNA expression of the telomerase-associated genes, hTERT and TEP1, in hematopoietic cells in order to clarify the relation between them and telomerase activity using semiquantitative RT-PCR. In polymorphonuclear cells and monocytes isolated from peripheral blood, which had no detectable telomerase activity, no hTERT mRNA expression was seen. On the other hand, lymphocytes and CD34-positive cells both demonstrated hTERT mRNA expression. TEP1 mRNA was detected in all samples, showing no differential expression. We then assessed hTERT and TEP1 mRNA expression in CD34-positive cells cultured in vitro with growth factors. After 4 weeks of culture, all the cells showed myeloid differentiation and the telomerase activity was downregulated. hTERT mRNA was expressed in CD34-positive cells, but was downregulated in 4-week-cultured cells. TEP1 showed no apparent differential expression. We conclude that hTERT mRNA expression is downregulated in accordance with telomerase downregulation during the course of myeloid differentiation, which suggests that it plays a crucial role in the expression of enzyme activity, while TEP1 has a much smaller role to play, if any.

Carrier Proteins↗
PubMed1999

[Three children with systemic cat scratch disease].

Three girls with systemic cat scratch disease, aged 10, 13 and 9 years, were reported. They presented a prolonged fever and back pain in the early stage of the disease, and had no regional lymphadenopathy. Two of them had hepatosplenic granulomas, one with multiple 5 mm hypoechoic lesions in the liver and spleen, and the other with a single 2.5 cm hypodense lesion in the left hepatic lobe. The latter patient underwent a partial left hepatic lobectomy. All patients had elevated titers of antibodies to Bartonella henselae. Polymerase chain reaction detected B. henselae DNA in tissue specimens of the patient who underwent a hepatic lobectomy. Cat scratch disease should be recognized as a cause of fever of unknown origin because the prevalence of B henselae infection might be higher in Japan.

Adolescent↗
PubMed1999

[Peripheral blood stem cell transplantation--practices of mobilization and harvest].

Recently, mobilized peripheral blood stem cells (PBSC) are increasingly used as an alternative to bone marrow for engrafting procedures. Chemotherapy followed by recombinant human granulocyte-colony stimulating factor (rhG-CSF) or rhG-CSF alone are the most commonly used PBSC mobilization schedules. Current timing of apheresis has now been yet decided on time by flowcytometric analysis of CD34 positivity of peripheral blood whole white cell count. Because apheresis procedure has been established quite well, PBSC harvest procedure becomes fast, safe and stable.

Blood Component Removal↗
PubMed1999

[A combination of low-dose carboplatin (CBDCA) and radiation therapy in head and neck cancer patients--response and hematologenic toxicity].

A combination of carboplatin (CBDCA) and radiation therapy was performed in patients with head and neck cancer. The intravenous administration of CBDCA at a weekly dose of 100 mg/body was combined with external irradiation at a dose of 1.8 Gy/day x 5/week during the same therapy period. We evaluated the effects of this method not only on survival and neoadjuvant chemotherapy in patients with advanced cancer but also on local control and prevention of distant metastases in patients with early cancer. The subjects consisted of 31 patients with head and neck cancer who visited the Department of Otolaryngology, Showa University Hospital, Kanto Rosai Hospital and Yokohama Rosai Hospital between March 1993 and March 1995. Squamous cell carcinoma was found in all but one patient who had adenocarcinoma in the parotid gland. The patients were 27 males and 4 females ranging between 40 and 81 years of age (mean, 59 years). Twenty-six patients had previously untreated tumor, while 5 patients had recurrent tumor. The clinical stage was Stage I in 6, Stage II in 10, Stage III in 5 and Stage IV in 10 patients. The original site of cancer was the larynx in 9, hypopharynx in 6, nasopharynx in 6 and elsewhere in 10 patients. The combined therapy was repeated for 2-9 courses (mean, about 5 courses). The total dose of CBDCA was 500 mg on average with a maximum of 900 mg. The total effective rate of the combined therapy was 93.3% with 12 cases of complete response (CR) and 16 cases of partial response (PR). The effective rate in patients with previously untreated tumor was 92% because one patient showed a minor response (MR) and one patient showed no change (NC). The effective rate in patients with recurrent tumor was 100%. Concerning the clinical stage, all patients with Stage I-III disease showed CR or PR, while MR was found in 1, NC in 1 and progressive disease (PD) in 1 of 10 patients with Stage IV disease, resulting in an effective rate of 71.4%. There were no CRs in Stage IV patients. Therapy was terminated due to side effects in 2 patients. Excellent safety was confirmed by laboratory data.

Adult↗
PubMed1998

Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease.

A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease. Her serum copper (14 microg/dl) and ceruloplasmin (9 mg/dl) levels were extremely low. Fluorescent in situ hybridization analysis with a 100-kb P1-derived artificial chromosome probe containing the Menkes disease gene demonstrated three twin-signals, one on the normal X chromosome and one each on derivative chromosomes X and 21, indicating that the Xq13.3 breakpoint was located within the gene. Replication pattern analysis showed that the normal X chromosome was late replicating, whereas the derivative X chromosome was selectively early replicating. These results indicated that Menkes disease in our patient resulted from a de novo translocation that disrupts the disease gene.

Adenosine Triphosphatases↗
PubMed1998

New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation.

We report on three brothers, aged 6, 3, and 2 years, with a hitherto undescribed combination of microcephaly, facial abnormalities, micromelia, and mild mental retardation. Their facial abnormalities included a forehead with bitemporal constriction, upslanting palpebral fissures, synophrys, a short nose with anteverted nostrils, a short columella, a cupid bow-shaped, thin vermilion border of the upper lip, and micrognathia. Their mother had similar clinical manifestations, but was of normal intelligence. The disease was apparently transmitted in a dominant fashion.

Adult↗
PubMed1997

Argon laser irradiation to the semicircular canal.

In order to elucidate the effects of argon laser irradiation on the lateral semicircular canal of the guinea pig, the vestibular labyrinth was histologically studied after irradiation, using the conventional celloidin method. Irrigation of the external meatus with ice water was used to evaluate the function of the semicircular canal by recording caloric nystagmus. When irradiation was performed, a laser probe was approximated to the lateral canal, 0.5 to 1 mm away from the surface of the canal. Each time, power applied was 1.0 W on the dial of the laser machine. The duration of irradiation was 0.5 s. The lateral canal was irradiated one to 15 times. Twenty-five to 87 days after irradiation, the temporal bones were fixed in Heidenhein-Susa solution, removed, and subjected to celloidin processing. The irradiated bony wall of the lateral canal demonstrated charring. Lucent areas were observed around and under the charred area. The semicircular duct showed shrinkage with disappearance of the trabecular mesh. New bone formation was observed along the endosteum of the irradiated area. The lateral canal was completely occluded by ossification with or without fibrosis when sufficient energy was applied. The anterior and posterior canals were normal. Caloric tests using 5 mL of ice water for 5 s failed to elicit nystagmus on the irradiated side.

Animals↗
PubMed1996

Occlusion of the semicircular canal using argon laser.

The effects of argon laser on the bony semicircular canals were studied in the guinea pig. After intraperitoneal administration of Nembutal, the bulla was opened in order to approach the lateral and posterior canals. The anterior canal was approached through the posterior fossa. The argon laser was applied through a probe which was connected to a device from HGM Medical Laser Systems. One of the three semicircular canals was irradiated one to several times by argon laser (1.0-1.5 W x 0.5 sec). Histopathologic examination of the temporal bones revealed that the semicircular duct shrank immediately after irradiation. The laser produced a charred area in the bony canal wall. The semicircular canals gradually became fibrotic and ossified and completely occluded within several weeks. Heat produced in the bony canal may be responsible for the morphologic changes. On delayed observation, the cochlea of the canal-irradiated animals showed no morphologic changes. Auditory brain stem responses were normal. Caloric stimulation using 5 ml/5 sec of ice water revealed no response in the lateral canal-irradiated animals.

Animals↗
PubMed1994

Median nodule of the upper lip: an autosomal dominant trait.

We describe a total of 18 individuals, in 3 families, with a median nodule of the upper lip. In family 1, the proposita, an 8-month-old infant girl, was otherwise phenotypically normal except for a median nodule of the upper lip. The proposita's elder brother and mother, both phenotypically normal, also had the similar nodule of the upper lip. On the mother's side, the proposita's greatgrandmother, greatgrandaunt, grandfather, greataunt, two aunts, and one female cousin all had a median nodule of the upper lip. In family 2, the proposita, proposita's mother and maternal grandfather had a median nodule of the upper lip. In family 3, the proposita, proposita's father, paternal grandfather, paternal uncle, and cousin had a median nodule of the upper lip. Analysis of 3 families indicates that the condition is an autosomal dominant trait.

Adult↗
PubMed1993

Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II.

A male infant with "classical" Seckel syndrome and a girl with osteodysplastic primordial dwarfism type II are described. The boy with classical Seckel syndrome had severe brain dysplasia, a finding hitherto unreported in patients with this syndrome. The patient with osteodysplastic dwarfism type II had skeletal abnormalities including lumbar scoliosis, a small and high pelvis, metaphyseal flaring of the distal radii and ulnae, V-shaped metaphyseal flaring of the distal femorae, and short metacarpals and phalanges. The mother of this girl was short, microcephalic, and had disproportionately short forearms and legs. In view of this, dominant inheritance of the disease was suggested.

Abnormalities, Multiple↗
PubMed1990

Two unrelated cases of single maxillary central incisor with 7q terminal deletion.

Two unrelated cases of single maxillary central incisor (SM-CI) with 7q terminal deletion of the same breakpoint at 7q36.1 were described. They had mental retardation, microcephaly, hypotelorism, short stature, and normal levels of plasma growth hormone. One case had bilateral caudal ectopic kidneys, double renal pelves, and dilated ureters. The other had bilateral hydroureteronephrosis. The present cases suggest that 7q terminal deletion is one of the causes of SMCI.

Abnormalities, Multiple↗
PubMed1989

Family study of common fragile sites.

The frequency of folate-sensitive common fragile sites (1p31, 1q44, 3p14, 3q26.2, 6q26, 16q23, Xp22.3) was determined in 19 healthy individuals from four families. The individuals consisted of 12 males and 7 females from 1 to 59 years of age. The frequency showed intrafamilial variation, but we were unable to demonstrate that the frequency was inherited in a Mendelian codominant fashion. In eight subjects whose chromosome 3 homologues could be distinguished by Q-band polymorphism, breakages at 3p14 occurred with equal frequencies on the homologues. Our study suggests that common fragile sites are a part of normal chromosome structure, and the frequency of their expression largely depends on environmental factors.

Adolescent↗
PubMed1989

Establishment of a human glioma cell line bearing a homogeneously staining chromosomal region and releasing alpha- and beta-type transforming growth factors.

A human glioma cell line (YKG1), which was positively identified for glial fibrillary acidic (GFA) and S-100 proteins, was established from a surgical specimen of a patient with glioblastoma. Chromosome analysis of the cells revealed a homogeneously staining region (HSR) on a marker chromosome. The assay for transforming growth factors (TGFs) in the conditioned medium of the cell line revealed that it contained high levels of alpha- and beta-type TGFs, which might regulate the growth of glioblastoma and influence on the peritumoral tissues.

Cell Line↗