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Biomedical subjects

S Otsuka

Publications and source records attributed to S Otsuka.

At least 19 recordsLinked to original sources

Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.

We analyzed mutant alleles of adenine phosphoribosyltransferase (APRT) deficiency in Japanese patients. Among 141 defective APRT alleles from 72 different families, 96 (68%), 30 (21%), and 10 (7%) had an ATG to ACG missense mutation at codon 136 (APRT*J allele), TGG to TGA nonsense mutation at codon 98, and duplication of a 4-bp sequence in exon 3, respectively. The disease-causing mutations of only four (3%) of all the alleles among Japanese remain to be elucidated. Thus, a diagnosis can be made for most of the Japanese APRT-deficient patients by identifying only three disease-causing mutations. All of the different alleles with the same mutation had the same haplotype, except for APRT*J alleles, thereby suggesting that alleles with the same mutation in different families were derived from the same ancestral gene. Evidence for a crossover or gene conversion event within the APRT gene was observed in an APRT*J mutant allele. Distribution of mutant alleles encoding APRT deficiency among the Japanese was similar to that seen in cystic fibrosis genes among Caucasians and Tay-Sachs genes among the Ashkenazi Jews.

Adenine Phosphoribosyltransferase

Painful tic convulsif caused by a brain tumor: case report and review of the literature.

Patient with painful tic convulsif caused by a brain tumor is presented. The patient was admitted with right trigeminal neuralgia and ipsilateral facial spasm, i.e., painful tic convulsif. Preoperative computed tomography scans showed no apparent abnormalities; however, surgery revealed that these symptoms were associated with a pearly tumor located in the cerebellopontine angle. Subtotal resection for the decompression of the right trigeminal and facial nerves was performed and resulted in complete relief of the symptoms. Histological examination demonstrated the tumor to be an epidermoid cyst.

Cerebellar Diseases

[A clinical and ultrastructural study of Fechtner syndrome in two Japanese families].

This is a report of Fechtner syndrome in two Japanese families. Six members of family I and three members of family II were studied. All but one had macrothrombocytopenia and leukocyte inclusion bodies, four had deafness, four had persistent proteinuria and none had cataracts. Under a diagnosis of ITP, two of them had splenectomy which resulted in no response. History revealed, other family members with deafness and/or nephritis were confirmed in both families. Ultrastructural studies of leukocytes showed oval inclusion bodies with unclear borders containing many fine ribosome like granules and randomly scattered filaments. Ultrastructural studies of macrothrombocytes were unremarkable except for a well-developed open canalicular system. More than half of megakaryocytes had uneven basophilic speckles in the cytoplasm, which were positive for Unna-Pappenheim staining. Ultrastructurally, widening of demarcating systems and remaining ribosomes were noted in the cytoplasma of mature megakaryocytes.

Deafness

[A case of gastric carcinoma with peritonitis carcinomatosa responding remarkably to etoposide, adriamycin and cisplatin (EAP) therapy].

The patient was a 62-year-old male who had Borrmann 4 type gastric cancer. He presented massive ascites due to peritonitis carcinomatosa and the cytology of ascites was class V. He was treated with 3 courses of EAP (etoposide, adriamycin, cisplatin) therapy. Computed tomography showed ascites nearly disappeared. Remarkable improvement was observed by barium meal study and endoscopic examination, and partial remission (PR) was achieved. As for toxicity bone marrow suppression, alopecia and elevation of BUN were observed.

Adenocarcinoma

Malignant meningioma with repeated multiple recurrence. A case report.

A case of malignant meningioma with repeated multiple recurrence was reported. A 22 year-old male first underwent the total removal of left parieto-occipital convexity meningioma in 1965. Although he had lived an uneventful life after the operation, he recognized motor weakness of the left lower limb in April 1985 when he was 41 years old and CT revealed a large tumor in the parieto-occipital parasagittal region. He underwent the total removal of the tumor and cranioplasty on May 23, 1985. After the second operation, repeated recurrence of multiple tumors was seen, which were in the frontal, parietal and occipital convexities, parasagittal regions and falx. He underwent further operations on January 23, 1986, December 11, 1986, March 30, 1987 and July 20, 1987 in addition to the first and second ones. Histological study on every operation indicated malignant meningioma with mitosis, hypercellularity and necrosis. Though radiotherapy (56 Gy whole brain irradiation) was conducted after the sixth operation, multiple tumors recurred and clinical symptoms and signs deteriorated gradually and he finally died September 9, 1989. In malignant meningioma such as our case, early aggressive radiotherapy and chemotherapy should be considered besides radical operations.

Adult

Gastric microcirculation and its regulating factors in stress.

Gastric mucosal blood flow and its regulating factors were studied in normal and stressed rats. In addition, vascular regulating factors and the role of CoQ10 anion radical and SOD (superoxide dismutase) level in gastric mucosa were also investigated as well as the influence of 5-HT (5-hydroxytryptamine) on gastric mucosal blood flow. Gastric mucosal blood flow was measured by the hydrogen gas clearance method. The vascular pattern of the stomach was investigated by the infusion method with two-colored silicon rubber. CoQ10 anion radical and SOD levels in gastric tissue were assayed by electron spin resonance (ESR) and radioimmunoassay. The gastric mucosal blood flow decreased significantly early after the induction of stress. Impairment of gastric mucosal blood flow was highly correlated with 5-HT and CoQ10 anion radical and SOD levels. Reduction in gastric mucosal blood flow was consequently due to opening of arteriovenular shunt and hyperpermeability of true capillaries influenced by 5-HT. These results demonstrate that ischemia and reperfusion after reduction of the gastric mucosal blood flow resulted in the sequence of events that led to formation of acute gastric mucosal lesions.

Animals

Study on cases with posterior fossa epidural hematoma--clinical features and indications for operation.

In this retrospective study, 11 cases of posterior fossa epidural hematoma were analyzed in terms of clinical and radiological features, treatment, and outcome. Posterior fossa epidural hematomas accounted for 11.8% of all epidural hematomas encountered during the 7-year period studied. There were eight males and three females ranging in age from 2 to 53 years (mean, 20.7 years). Glasgow Coma Scale scores on admission were relatively good in many cases. Headache and/or vomiting were common symptoms on admission, whereas cerebellar signs were rare. As all 11 cases involved trauma, occipital fractures were present in eight (72.7%). Six patients underwent surgery. The indications for surgery, in terms of computed tomography findings, were: 1) the maximum thickness of the epidural hematoma was more than 15 mm; 2) the posterior fossa cisterns (e.g., the quadrigeminal and ambient cisterns) were poorly visualized; 3) there was marked deformity and/or displacement of the fourth ventricle; and 4) the hematoma extended to the supratentorial region and severely compressed the brain. At discharge, eight patients showed good recovery and one was moderately disabled. Two patients died. The prognosis for posterior fossa epidural hematoma appears relatively good, if it is not accompanied by severe primary brainstem injury and is diagnosed early, and appropriately and promptly treated.

Adolescent

[A case of Merkel cell carcinoma of the eyelid].

An 84-year-old man with Merkel cell carcinoma in the right upper-eyelid is reported. The patient presented with a rapidly growing, reddish-purple, solid tumor with a relatively well-defined margin in the skin of the lid. Increased neuron specific enolase content in the blood returned to normal several months after resection of the tumor and 70 Gy postoperative cobalt radiation. Histopathologic examination of the resected specimen revealed that the tumor was limited by intact epidermis and occupied by moderate-sized, round malignant cells with marked mitoses and scant cytoplasm. The neoplastic cells were positively stained by labeled antibodies for neuron specific enolase, keratin and epithelial membrane antigen. Electron microscopic examination showed abundant perinuclear microfilaments and dense core granules.

Aged

Epidermoid tumor presenting with trigeminal neuralgia and ipsilateral hemifacial spasm: a case report.

A case of epidermoid tumor presenting with a painful tic convulsif was reported. A 35-year old male with trigeminal neuralgia and ipsilateral hemifacial spasm was diagnosed as having an epidermoid by CT and metrizamide CT cisternography and the symptoms were completely eliminated after the operation. In this case, metrizamide CT cisternography was very useful for preoperative diagnosis by demonstrating the characteristic findings of the epidermoid. It should be taken into consideration that there are some cases with trigeminal neuralgia and/or hemifacial spasm whose symptoms are due to brain tumors.

Adult

[Brain tumors associated with hemorrhage from tumors as their first manifestation].

Four cases of brain tumors associated with hemorrhage from tumors as their first manifestation were reported. These were malignant astrocytoma in two cases, brain metastasis of hepatocellular carcinoma in one case and skull metastasis of hepatocellular carcinoma in one case. Clinical symptoms and sings were generalized convulsion, sudden onset of headache, vomiting and hemiparesis. It was difficult to confirm the diagnosis of brain tumors in such cases. Therefore it is important to perform follow-up plain and enhanced CT repeatedly and it is also important to make adequate biopsy of hematoma wall and surrounding tissue during operation.

Adult

Significance of tissue kallikrein in chronic atrophic gastritis.

Seventy patients were diagnosed to have chronic atrophic gastritis, because an atrophic border was distinguished by the endoscopic Congo red method. The atrophic border was furthermore classified into the closed type and the open type. Specimens of the gastric mucosa were obtained by biopsy to measure tissue kallikrein as a marker of inflammation. The sandwich-type ELISA showed that kallikrein significantly increased with the extension of the atrophic area. Histopathological investigations also revealed that kallikrein markedly increased with the appearance of intestinal metaplasia. The peroxidase-antiperoxidase method located (1) a large amount of kallikrein in the mucous granules which filled the goblet cells found in the mucosa showing intestinal metaplasia and (2) a small amount discharged into lumens. These findings suggested that atrophy of the gastric mucosa might be an inflammatory change, and that the kallikrein-kinin system might be associated with gastric inflammation regardless of the pathological stage.

Biomarkers

Monostotic fibrous dysplasia of the left parietal bone--case report.

A 14-year-old female presented with a hard, painless mass, 5 x 5 cm, in the left parietal region. Skull x-rays showed a radiolucent skull tumor with a sclerotic margin in the parietal region. Computed tomography revealed an intradiploic multilocular mass separated by bony trabeculae. The outer table had thinned and protruded outward. The inner table was also thin and protruded inward slightly. External carotid angiography revealed a faint tumor stain and feeding from the middle meningeal artery. Bone scintigraphy revealed abnormal uptake in the lesion. Total removal of the skull tumor and cranioplasty were performed. The histological diagnosis was fibrous dysplasia. Fibrous dysplasia within the cranial vault is often expressed as painless bulging without neurological symptoms. Surgery is recommended when neurological symptoms and/or cosmetic problems are present. Histological confirmation of the diagnosis is also important.

Adolescent

[Metastatic liver cancer from the stomach successfully treated by combined immunochemotherapy and transarterial embolization].

A 53-year-old-man, who suffered from advanced gastric carcinoma with liver metastasis (P0H3S2N1; stage IV) underwent simple gastrectomy. After the operation, the patient was treated by chemotherapy (1/2 MFC, M: mitomycin C, F: FT-207, C: Cylocide) combined with immunotherapy (PSK, lentinan) and intraarterial injection (mitomycin C & Lipiodol). Liver metastases disappeared soon after the combined therapy, and these findings were confirmed by CT and US. Moreover, the serum level of CEA and CA 19-9 also decreased from 160 ng/ml and 51 U/ml to the normal level. The duration of the complete disappearance of the liver metastasis was not so long, but quality of life was well maintained for 2 and one half years. This case suggested that combined therapy may well be effective for advanced gastric cancer with liver metastases.

Adenocarcinoma