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Biomedical subjects

M Uda

Publications and source records attributed to M Uda.

At least 19 recordsLinked to original sources
PubMed2001

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins in type II. Consistent with an involvement in those tissues, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.

Abnormalities, Multiple↗
PubMed2001

Retroperitoneal hematoma associated with femoral neuropathy: a complication under antiplatelets therapy.

We report a case of retroperitoneal hematoma presenting as femoral nerve pulsy on antiplatelet therapy. The patient, a 78-year-old man who had undergone antiplatelet treatment using ticlopidine, was admitted to our hospital with complaints of sudden-onset low abdominal and back pain. Computed tomography showed an iso-density mass in the right retroperitoneum within the psoas muscle. We made a diagnosis of retroperitoneal hematoma compressing the femoral nerve and performed an operation to remove the hematoma in order to decompress the femoral neuropathy. Postoperatively, the patient rapidly recovered from the femoral neuropathy. In the particular case in which no antagonist against the ticlopidine is available, surgical decompression could produce a good outcome.

Aged↗
PubMed2000

Touch-free in situ investigation of ancient Egyptian pigments.

Some of the pigments painted on the Funerary Stele of Amenemhat (ca. 2000 B.C.) exhibited at the Egyptian Museum, Cairo and on the walls of the Tomb of Userhat (ca. 1420 B.C.), a rock-cut tomb in Thebes, Egypt, were investigated in situ using both a convenient home-made hand-held type of X-ray diffractometer and a commercial X-ray fluorescence spectrometer in a complementary way under touch-free conditions. CaCO3.3MgCO3 (huntite) was found in the white-painted parts of these two ancient monuments. An arsenic (As)-bearing phase was detected in the yellow-painted parts of the latter monument. The occurrence of huntite in Egypt has not been reported previously.

Egypt, Ancient↗
PubMed1999

Jagged-1 mutation analysis in Italian Alagille syndrome patients.

Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged-1 (JAG1) gene, which encodes a ligand of Notch, has recently been found mutated in AGS. In this study, mutation analysis of the JAG1 gene performed on 20 Italian AGS patients led to the identification of 15 different JAG1 mutations, including a large deletion of the 20p12 region, six frameshift, three nonsense, three splice-site, and two missense mutations. The two novel missense mutations were clustered in the 5' region, while the remaining mutations were scattered throughout the gene. The spectrum of mutations in Italian patients was similar to that previously reported. We also studied in detail a complex splice site mutation, 3332dupl8bp, which was shown to lead to an abnormal JAG1 mRNA, resulting in a premature stop codon. With the exception of the missense mutations, the majority of the JAG1 mutations are therefore likely to produce truncated proteins. Since the phenotype of the patient with a complete deletion of the JAG1 gene is indistinguishable from that of patients with intragenic mutations, our study further supports the hypothesis that haploinsufficiency is the most common mechanism involved in AGS pathogenesis. Furthermore, our data confirmed the absence of a correlation between the genotype of the JAG1 gene and the AGS phenotype.

Alagille Syndrome↗
PubMed1999

[Analysis of intermittent blood flow in experimental tumor using a transparent chamber].

Using a transparent chamber under a microscopic recording system equipped with a CCD camera, we measured real-time fluctuations of microvessel blood flow in an experimental murine tumor. Seven microvessels of the tumor showed 3-4 fluctuations in blood flow (intermittent blood flow) during the observation period (2 hours). Within the 120 min. monitoring period, we obtained approximately a maximum 52.5% of decreased blood flow. The duration of change in blood flow ranged from 15-45 min. Similar temporal fluctuations were seen in experimental animal tumors. Our data clearly demonstrated that fluctuations in blood flow (intermittent blood flow) in tumors are a common feature.

Animals↗
PubMed1999

[A case of renal cell carcinoma associated with von Hippel-Lindau disease and the necessity for family genetic diagnosis].

We report a 47-year-old man who had bilateral renal cell carcinoma (RCC) associated with von Hippel-Lindau (VHL) disease. Surgical resection of hemangioblastomas and left nephrectomy for RCC had been done previously. This time, a small RCC was found in his right kidney and enucleation was performed to preserve renal function. His mother had retinal angioma, hemangioblastoma, and bilateral RCC. Hemangioblastoma was also found in his daughter. Genetic diagnosis was performed in his family and a germline VHL mutation was recognized. For improvement of the prognosis of VHL disease, genetic diagnosis and early clinical assessment are important.

Carcinoma, Renal Cell↗
PubMed1998

Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome.

Interest in glypican-3 (GPC3), a member of the glypican-related integral membrane heparan sulfate proteoglycans (GRIPS) family, has increased with the finding that it is mutated in the Simpson-Golabi-Behmel overgrowth syndrome (Pilia et al. [1996] Nat. Genet. 12:241-247). The working model suggested that the membrane-bound protein acts locally to limit tissue and organ growth and that it may function by interacting with insulin-like growth factor 2 (IGF2) to limit its local effective level. Here we have tested two predictions of the model. In situ hybridization with the mouse gene cDNA was used to study the expression pattern during embryonic and fetal development. In agreement with predictions, the gene is expressed in precisely the organs that overgrow in its absence; and the patterns of expression of Gpc3 and those reported for Igf2 are strictly correlated.

Abnormalities, Multiple↗
PubMed1998

Benign fibrous mesothelioma successfully treated by thoracoscope-assisted surgery: report of a case.

We report herein the case of an 84-year-old man in whom a benign fibrous mesothelioma (BFM) was successfully treated by thoracoscope-assisted surgery. In September 1996, the patient underwent a sigmoidectomy for colon cancer, soon after which a followup examination disclosed a coin lesion on his chest X-ray film. The patient was readmitted to our hospital in November 1996 for further investigation of this tumor. A chest computed tomography scan revealed a 3.5 x 3.0 cm homogeneous tumor arising from the pleura. A needle biopsy was performed under ultrasonographic guidance, and the specimen was histopathologically diagnosed as a BFM. In view of his poor respiratory function, the tumor was excised by thoracoscope-assisted surgery. This case report serves to demonstrate the benefits of thoracoscope-assisted surgery for such patients.

Aged↗
PubMed1998

Carcinosarcoma of the colon: report of a case and review of the literature.

We report a case of carcinosarcoma in the transverse colon in a 60-year-old woman. She was admitted to our hospital for further examination of occult blood in October, 1995. Colonoscopy disclosed an elevated lesion with ulceration in the transverse colon, and she underwent right hemicolectomy. Histopathological examination revealed the tumor to consist of both carcinomatous and sarcomatous elements, the latter being more predominant. Immunohistochemistry revealed vimentin immunoreactivity in most of the sarcomatous cells, and S-100 and myoglobin in a few carcinomatous cells. Distinct carcinomatous features were noted in one superficial portion of the tumor, and these carcinomatous cells showed immunoreactivity for epithelial membrane antigen. The patient is alive 14 months after surgery without evidence of recurrence. To our knowledge, this is the fourth reported case of carcinosarcoma of the colon. Our review of the literature disclosed poor prognosis in colonic carcinosarcoma.

Carcinosarcoma↗
PubMed1998

Cell kinetic changes in cultured tumor cells after treatment with radiation and chemotherapy.

Flow cytometry instantaneously determines the percentages of cells in various cell cycle phases to rapidly evaluate effects of irradiation and anti-cancer drugs. We studied these using growth curve analysis and 5-bromodeoxyuridine propidium iodine (BrdU)-(PI) double staining. With conventional DNA histogram methods, determination of S phase fraction was difficult because of overlapping DNA content between G1 and early S phases and between late S and G2 phases. Double staining directly differentiated G1, S, and G2 + M phases. By double staining, rapid transition from G1 to S occurred within 4 h after irradiation or after the drug treatments, and initial G1 arrest induced by irradiation was confirmed for the first time.

Antineoplastic Agents↗
PubMed1998

[A case of retroperitoneal malignant lymphoma successfully treated by chemotherapy].

A 71-year-old woman was admitted to our hospital with the complaint of lower abdominal pain. CT scan revealed a huge retroperitoneal mass. On laparotomy the tumor was found to have extensively invaded the retroperitoneum, and an incisional biopsy was performed. Histopathological diagnosis of the biopsied specimen demonstrated diffuse malignant lymphoma of the pleomorphic type. Six cycles of CHOP chemotherapy were very effective for complete remission. Our review of 18 cases in the Japanese literature showed that chemotherapy and radiotherapy were effective for retroperitoneal malignant lymphoma, so due care must be taken in opting for surgery.

Aged↗
PubMed1997

Double cancers of the gallbladder and bile duct associated with anomalous choledochopancreatic duct junction.

A rare case of double cancers of the gallbladder and bile duct associated with anomalous choledochopancreatic duct junction (ACPDJ) is reported. The patient was a 61-year-old Japanese woman who with presented right upper quadrant abdominal pain. Liver function tests results were normal. Computed tomography showed a polypoid lesion in the gallbladder, and endoscopic retrograde cholangiopancreatography (ERCP) demonstrated ACPDJ and irregular wall of the inferior bile duct. A diagnosis of double cancers of the gallbladder and bile duct was made and a pancreaticoduodenectomy and liver bed resection was performed. His topathological examination showed papillary adenocarcinoma of the gallbladder and mucosal adenocarcinoma of the bile duct. The patient is in good health 15 months after the operation and shows no signs of recurrence. A review of the literature is presented.

Adenocarcinoma↗
PubMed1994

Unresponsiveness of antidonor cytotoxic T cells in a long-term stable renal transplant recipient.

The antidonor immune response was examined in a one haplotype-mismatched renal transplant recipient with an allograft that had been well-functioning for more than 10 years. Although the relative response of the mixed lymphocyte reaction (MLR) was (45.8)% and the MLR responder cells stimulated by donor cells produced measurable amounts of interleukin-2 (IL-2) (11.6 U/ml), the cytotoxic T lymphocytes (CTL) could not be generated against donor cells, even with exogenous IL-2. These results indicate that antidonor CTL precursors were either deleted or inactivated in this recipient.

Adult↗
PubMed1994

[Clinical study of cyclic intra-arterial chemotherapy using mitoxantrone for advanced hepatocellular carcinoma].

Cyclic intra-arterial infusion chemotherapy using Mitoxantrone via reservoir system was prescribed for 8 patients with advanced hepatocellular carcinoma. According to the clinical staging system, two patients were in Stage III and the other six patients in Stage IV-A. Vp-3 portal invasion was observed in six out of the eight patients. Mitoxantrone (5-8 mg/body) was administered intra-arterially via port-a-cath device every 4 weeks. For tumor response, there were two PR cases, four NC cases, and two PD cases. Thus, the response rate was 25%. The mean survival period was 6.5 months, and 1-year survival rate was 13%. In one of two PR cases, the survival time has been more than two years so far. Gastrointestinal toxicities such as nausea and vomiting were not severe. Critical myelosuppression requiring medication was not observed. Although a temporary increase of serum bilirubin was found in two cases, no severe damage to hepatic function was observed. From our preliminary data, this arterial infusion chemotherapy using Mitoxantrone via reservoir system can be safely performed on non-hospitalized patients with advanced hepatocellular carcinoma, and may be a useful treatment modality.

Aged↗