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Biomedical subjects

Y Miki

Publications and source records attributed to Y Miki.

At least 55 records · Page 3Linked to original sources
PubMed1999

Bilateral Nonpalpable Breast Carcinomas in a Patient with BRCA2 Germ Line Mutation and Past History of Osteosarcoma.

A 34-year-old premenopausal woman developed asynchronous bilateral nonpalpable breast cancers at the age of 32 and 34 years. She had undergone amputation of her left lower leg because of osteosarcoma at the age of 16. Her mother had beendiagnosed with breast cancer at the age of 45. The clinicopathological features of the two breast tumors in this patient closely resembled each other; both were nonpalpable, and detectable only by helical CT scan. Histologically, they consisted mainly of an intraductal component with small grade 3 invasive foci. In addition, both tumors estrogen receptor (ER) status was negative, and both were positive for c-erbB-2 protein on immunohistochemical staining. A missense germ line mutation of BRCA2 (exon 25 codon 3118; Met3118Thr) was detected in this patient. These data may provide useful information on the carcinogenesis and biological behavior of breast cancers which develop in patients with BRCA2 germ line mutations.

Journal Article↗
PubMed1999

Hyperinsulinaemic hypoglycaemia associated with persistent hyperammonaemia.

UNLABELLED: Two cases of hyperinsulinaemic hypoglycaemia associated with persistent hyperammonaemia in unrelated infants of 7 days and 4 months of age are reported. Blood ammonia levels were 100-300 micromol/l (normal values <40 micromol/l). The hyperammonaemia was asymptomatic and not associated with any of the abnormalities of amino acids or organic acids observed in urea cycle enzyme defects. Orotic aciduria was normal. The hyperammonaemia was not influenced by the levels of blood glucose nor by subtotal pancreatectomy. On admission blood glucose was ca. 1.2 mmol/l (21.6 mg/dl) corresponding to blood insulin levels of 35 and 22 mU/l respectively in both infants. Continuous intravenous glucose perfusion was necessary to prevent hypoglycaemia. Furthermore 2-oxoglutaric acid in urine was increased in the second infant to 3.15 mg/mg creatinine (normal 0.41+/-0.12). This may point to mutations in the glutamate dehydrogenase gene. CONCLUSION: 2-Oxoglutaric aciduria may be an important clue to the diagnose in this syndrome.

Ammonia↗
PubMed1999

Interactions between cytoskeletal components during myoplasm rearrangement in ascidian eggs.

Ooplasmic segregation in ascidian eggs consists of two phases of cytoplasmic movement, the first phase is mediated by the microfilament system and the second is mediated by the microtubule system. Recently, two novel proteins, p58 and myoplasmin-C1, which are localized to the myoplasm, were suggested to have important roles in muscle differentiation. In order to analyze the molecular mechanisms underlying ooplasmic segregation, the interactions between actin, tubulin, p58 and myoplasmin-C1 were examined. During the first segregation, microtubule meshwork in the unfertilized egg disappeared. At the second segregation, a novel structure of the microtubules that extended from the sperm aster and localized in the cortical region of the myoplasm was found. Moreover, uniform distribution of the cortical actin filament was observed at the second segregation. During the course of myoplasm rearrangement, p58 and myoplasmin-C1 are colocalized and can form a molecular complex in vitro. This complex of p58 and myoplasmin-C1 is a good candidate for a cytoskeletal component of the myoplasm, and is likely to be involved in the correct distribution of cytoplasmic determinants.

Actins↗
PubMed1999

Proposed classification of nonatherosclerotic cerebral fusiform and dissecting aneurysms.

OBJECTIVE: The aim of this study is to classify nonatherosclerotic aneurysms unrelated to the branching zones (including fusiform aneurysms and dissecting aneurysms). METHODS: Damage to the internal elastic lamina (IEL) is often an associated factor in the pathogenesis of aneurysm formation. In this study, 85 nonatherosclerotic aneurysms arising from an arterial trunk unrelated to the branching zones were classified into four different types, based on the lesional patterns of the IEL and the state of the intima. Type 1 corresponded to classic dissecting aneurysms, the pathogenesis of which was characterized by acute widespread disruption of the IEL without intimal thickening. Patients with Type 1 aneurysms had an ominous clinical course, and many presented with sudden subarachnoid hemorrhage with frequent rebleeding. Type 2 aneurysms were segmental ectasias, which had an extended and/or fragmented IEL with intimal thickening. Weakness of the arterial wall caused by the damaged IEL was assumed to be compensated by the intimal thickening. The luminal surface of the thickened intima was smooth without thrombus formation. The patients with Type 2 aneurysms had a placid clinical course. Type 3 aneurysms were dolichoectatic dissecting aneurysms, pathologically characterized by fragmentation of the IEL, multiple dissections of thickened intima, and organized thrombus in the lumen. Most of them were symptomatic and progressively enlarged over time. Type 4 aneurysms were saccular aneurysms unrelated to the branching zones. They arose in areas with minimally disrupted IEL without intimal thickening, and there was a risk of rupture. CONCLUSION: There was a strong relationship between the pathological features of the aneurysms and their clinical courses. This classification may provide a rationale for modes of treatment.

Adult↗
PubMed1999

A task-specific evaluation of three-dimensional image interpolation techniques.

Image interpolation is an important operation that is widely used in medical imaging, image processing, and computer graphics. A variety of interpolation methods are available in the literature. However, their systematic evaluation is lacking. In a previous paper, we presented a framework for the task-independent comparison of interpolation methods based on certain image-derived figures of merit using a variety of medical image data pertaining to different parts of the human body taken from different modalities. In this work, we present an objective task-specific framework for evaluating interpolation techniques. The task considered is how the interpolation methods influence the accuracy of quantification of the total volume of lesions in the brain of multiple sclerosis (MS) patients. Sixty lesion-detection experiments coming from ten patient studies, two subsampling techniques and the original data, and three interpolation methods are carried out, along with a statistical analysis of the results.

Brain↗
PubMed1999

Differences between relapsing-remitting and chronic progressive multiple sclerosis as determined with quantitative MR imaging.

PURPOSE: To investigate the cross-sectional relationships among multiple quantitative brain magnetic resonance (MR) imaging measurements in patients with relapsing-remitting versus chronic progressive multiple sclerosis (MS). MATERIALS AND METHODS: Thirty-eight patients with MS (relapsing-remitting, 26, chronic progressive, 12) were examined. Lesion volume on T2-weighted MR images, contrast material-enhancing lesion volume, percentage of brain parenchymal volume (brain volume/[brain volume + cerebrospinal fluid volume), and magnetization transfer ratio histogram peak height for the whole brain were calculated. RESULTS: Significant negative correlation was noted between volume on T2-weighted images and magnetization transfer ratio histogram peak height for both the relapsing-remitting and chronic progressive groups (P < .001 for both). A positive correlation was demonstrated for lesion volume on T2-weighted images and enhancing lesion volume in the relapsing-remitting group (P < .01) but not in the chronic progressive group. Negative correlations were demonstrated for enhancing lesion volume and magnetization transfer ratio histogram peak height (P = .02), for Expanded Disability Status Scale score and magnetization transfer histogram peak height (P = .02), and for Expanded Disability Status Scale score and percentage of brain parenchymal volume in the relapsing-remitting group (P = .004) but not in the chronic progressive group. CONCLUSION: The cross-sectional relationships among multiple quantitative brain MR imaging measurements are different between relapsing-remitting and chronic progressive MS.

Adult↗
PubMed1999

Rapid progression of pituitary hyperplasia in humans with primary hypothyroidism: demonstration with MR imaging.

PURPOSE: To use magnetic resonance (MR) imaging to evaluate the morphologic changes of the pituitary gland during the development of hypothyroidism. MATERIALS AND METHODS: Fourteen patients who had undergone thyroidectomy were evaluated before radioactive iodine 131 therapy. In each patient, MR imaging and measurement of serum hormone levels were performed twice: 5 weeks before 131I treatment as the "euthyroid state" with thyroid hormone supplementation and on the day of 131I treatment as the "hypothyroid state" after a 3-week depletion of thyroid hormone supplements. Nine healthy volunteers also underwent MR imaging twice at an interval of 5 weeks. Pituitary volume and the relative signal intensity ratio of the anterior pituitary to the pons were measured. The shape and signal intensity of the pituitary gland were also visually assessed. The paired Student t test was used to evaluate the significance of the data. A P value less than .05 indicated a statistically significant difference. RESULTS: The patients had significantly larger pituitary volume in the hypothyroid state than in the euthyroid state both quantitatively (P < .001) and visually. No significant differences were found in the relative signal intensity ratios of the anterior pituitary to the pons. In healthy volunteers, no significant differences in pituitary volumes or signal intensity were found between the two MR images. CONCLUSION: Rapid progression of hyperplasia of the anterior pituitary may occur with acute development of hypothyroidism.

Adult↗
PubMed1999

Relapsing-remitting multiple sclerosis: longitudinal analysis of MR images--lack of correlation between changes in T2 lesion volume and clinical findings.

PURPOSE: To determine the relationship between T2 lesion volume and either disability measurements or change in T2 lesion volume over time in multiple sclerosis (MS). MATERIALS AND METHODS: Eighteen patients (age range, 26-53 years) with clinically proved relapsing-remitting MS were examined every 6 months for over 2 years. Three-millimeter-thick contiguous images of the whole brain were obtained. T2 lesion volume was calculated with a highly reproducible volumetric computer method. RESULTS: A substantial annual increase in T2 lesion volume, with a median annual increase of approximately 8%, was demonstrated. However, there was no significant correlation between absolute T2 lesion volume and either the absolute expanded disability status scale (EDSS) grade (P = .32) or the absolute ambulation index (AI) (P = .20). In addition, no significant correlation between change in T2 lesion volume and change in EDSS grade (P = .42) or AI (P = .37) was found. There was no significant correlation between T2 lesion volume and duration of disease (P = .08). CONCLUSION: There is no significant correlation between T2 lesion volume and standardized disability measurements despite a substantial increase in T2 lesion volume over time. Patients have an increase in total T2 lesion volume in the brain regardless of their clinical status or disability measurements. T2 lesion volumes as outcomes in therapeutic clinical trials on MS should be viewed as secondary outcomes rather than as surrogate markers of clinical responses.

Adult↗
PubMed1999

Clinicopathological studies of odontoma in 47 patients.

A 14-year retrospective study was performed on 47 odontomas from the files of the 1st Department of Oral and Maxillofacial Surgery at Nihon University School of Dentistry. Fifty-seven percent of the patients were male and 42.6% were female. The age distribution was 8 to 48 years with a mean age of 22 +/- 9.0 years. There were no particular symptoms associated with the odontomas, and 63.8% of our patients had no symptoms. However, 12 patients complained of swelling and 9 of pain. The tumor was found in the maxilla in 42.6% and in the mandible in 57.4%. According to the WHO histological type classification, 53.2% of the tumors were classified as compound odontoma and 46.8% as complex odontoma. The size of the tumor ranged from 5 mm to 42 mm in diameter. The average complex odontoma was much bigger than the average compound odontoma. Ghost cells were found 11 cases in our series. In addition, odontogenic epithelium was found in 16 cases. Twenty seven patients had impacted teeth in association with odontoma and 24 of the 27 teeth were removed at the time of surgical enucleation of the tumor, while 3 cases were treated by orthodontically assisted eruption. There was no recurrence in any of the studied cases.

Adolescent↗
PubMed1999

Allelic loss at 1p34, 13q12, 17p13.3, and 17q21.1 correlates with poor postoperative prognosis in breast cancer.

Allelic losses of tumor suppressor genes (TSGs), or the chromosomal regions harboring them, in tumor DNA may become useful postoperative prognostic indicators. To examine whether specific allelic losses might correlate with postoperative survival in a 5-year prospective follow-up, we tested tumors from a cohort of 264 breast cancer patients for allelic losses of 18 microsatellite markers representing either a known TSG or a region where genetic alterations are frequent in breast tumors. Patients whose tumors had lost an allele at 1p34, 13q12, 17p13.3, or 17q21.1 had significantly higher risks of postoperative mortality than those whose tumors retained both alleles at those loci (at 1p34, a 5-year mortality rate of 29% among patients with losses vs. 7% with retentions, P = 0. 0008; at 13q12, 31% vs. 10%, P = 0.0062; at 17p13.3, 24% vs. 13%, P = 0.026; and at 17q21.1, 31% vs. 13%, P = 0.0047). Furthermore, combined losses at 13q12 and 17p13.3 increased the predicted postoperative mortality risks by a factor of 9.6 (5-year mortality rate of 42% vs. 5% with retentions, P = 0.0001), and combined losses at 1p34 and 17p13.3 raised the predicted postoperative mortality risks by a factor of 8.6 (27% vs. 3%, P = 0.0064). We conclude that allelic losses at these loci can serve as negative prognostic indicators to guide postoperative management of patients. Genes Chromosomes Cancer 26:134-141, 1999.

Adult↗
PubMed1999

[A surgically treated case of giant pseudoaneurysm arising as a complication following carotid endarterectomy].

We reported a case of giant pseudoaneurysm (PA) originating at the left extracranial internal carotid artery after carotid endarterectomy (CEA). A 60-year-old man underwent CEA for severe stenosis of the left internal carotid artery. A day after the operation, a left cervical painful and pulsatile mass beneath the operative scar was noticed. Soon after that, the patient showed dyspnea, and intratracheal intubation was carried out. 6 days after CEA, a painful swelling reoccurred. A left carotid angiogram visualized a 5 x 5 cm sized PA in the region of the left carotid bifurcation and demonstrated patency of the two major carotid branches. After a balloon catheter had been inserted and inflated at the carotid bifurcation, the patient underwent a second operation. The bleeding from arteriotomy was well controlled by the inflated balloon catheter at the carotid bifurcation. The continuous SURGILENE suture appeared to be disrupted and a saccular PA was found to have arisen from a defect on the lateral surface of the carotid bifurcation. The suture was completely removed and arteriotomy was closed with a continuous SURGILENE suture again and some single sutures were added. A PA arising as a complication following CEA is rare, but the possibility of PA after CEA should be considered in any patient presenting with a painful or/and pulsatile mass in the neck at any time interval following the operation. Angiography at the early post-op stage is necessary to rule out the various complications after CEA. To control the bleeding, the balloon catheter was thought to be very useful.

Aneurysm, False↗
PubMed1998

A new technique of laparoscopic obturator hernia repair: report of a case.

An 84-year-old woman presented with ileus. Ultrasonography, a computed tomography scan, and small bowel contrast examination showed a Richter-type hernia in her left obturator orifice. Under general anesthesia, laparoscopic surgery with low-pressure (4mmHg) pneumoperitoneum was carried out using a peritoneal needle retractor, and a reduction of the strangulated intestinal loop was thus achieved. Because the hernial opening measured 5mm in diameter, it could be closed with four pieces of End-Universal stapler without polypropylene mesh. The ischemic ileum was resected, and the bowel was anastomosed extracorporeally with a minimal skin incision. She was ambulant on the first postoperative day, and her postoperative course was good. Obturator hernias are rare, but when a definitive diagnosis is made in such elderly patients, laparoscopic repair using the peritoneal needle retractor is recommended for minimally invasive surgery. We recommend doing the repair with an End-Universal stapler, since this procedure is more simple and useful for preventing infection than using polypropylene mesh in such a strangulated case.

Aged↗
PubMed1998

High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.

Mutations in either of two recently identified genes, BRCA1 and BRCA2, are thought to be responsible for approximately two-thirds of all cases of autosomal-dominantly inherited breast cancer. To examine the nature and frequency of BRCA1 and BRCA2 mutations in Japanese families exhibiting a high incidence of breast cancer, we screened 78 unrelated families in this category for mutations of these two genes. Examining the entire coding sequences as well as exon-intron boundaries of both genes by polymerase chain reaction (PCR) single-strand conformation polymorphism (SSCP) and multiplex-SSCP analysis, we identified possible disease-causing alterations in BRCA1 among affected members of 15 families and in BRCA2 in another 14 families. In 15 of those 29 families, the affected individuals carried missense mutations, although most germline mutations reported worldwide have been deletions or nonsense mutations. Our results, indicating that missense mutations of BRCA1 and BRCA2 tend to predominate over frameshifts or nonsense mutations in Japanese breast cancer families, will contribute significantly to an understanding of mammary tumorigenesis in Japan, and will be of vital importance for future genetic testing.

BRCA2 Protein↗
PubMed1998

Retrotransposal integration of mobile genetic elements in human diseases.

Approximately one-third of the mammalian genome is composed of highly repeated DNA sequences, of which the two major families, the long and short inter-spersed nucleotide elements (LINEs and SINEs), are represented in humans by L1 and Alu elements respectively. Both 'types of element are considered to be retrotransposable and to play significant roles in genomic function and evolution. The majority of inserted elements are truncated and often rearranged relative to full-length elements; usually, such retrotransposed sequences are flanked by target-site duplications of various lengths and contain 3' polyA tracts, common characteristics of retrotransposal integration. Retrotransposal integrations of Alu and L1 sequences into biologically important genes appear to play significant roles in some human diseases. Most of the inserted sequences that cause human diseases seem to belong to one or a few subsets of each type of retrotransposon, suggesting that only a few active elements can function as templates for retrotransposition. Integrations observed in oncogenes and in tumor suppressor genes may participate in carcinogenesis by altering the activity of the affected genes. The exact mechanism of these events is unclear; however, retrotransposal integration may be a general mechanism of mutation in humans.

Animals↗
PubMed1998

Multiplex mutation screening of the BRCA1 gene in 1000 Japanese breast cancers.

To detect BRCA1 mutations in Japanese breast cancer patients, we screened 1,000 unselected primary cancers for mutations in exon 11, which accounts for 61% of the entire BRCA1 coding sequence. Using a method based on multiplex single-strand conformational polymorphism (SSCP) analysis of multiple restriction fragments generated by restriction-enzyme digestion of amplified DNA, we identified eight mutations. All eight were germline mutations; four of them were non-sense mutations or small deletions resulting in premature stop codons, and the other four were missense mutations. The Japanese carriers of these mutant BRCA1 alleles had developed breast cancers at ages ranging from 45 to 62, five of them bilaterally.

Aged↗
PubMed1998

Expression of receptors for basic fibroblast growth factor on human periodontal ligament cells.

Basic fibroblast growth factor (FGF-2; bFGF) is a major mitogen for connective tissue cells, and participates in the healing process. It has already been reported that FGF-2 could be applicable to enhance periodontal regeneration. In the present study, we examined FGF receptor (FGFR) expression on human periodontal ligament (PDL) cells. The binding of [125I]-labeled FGF-2 to human PDL cells was studied by radioreceptor assay. The binding of [125I]-FGF-2 to PDL cells reached a plateau after 2.5 h incubation at 4 degrees C and was inhibited by the addition of unlabeled FGF-2 and acidic FGF (FGF-1; aFGF), but not insulin-like growth factor-I, platelet-derived growth factor and transforming growth factor-beta 1. Scatchard analysis revealed the presence of approximately 1.0 x 10(5) FGF-2 binding sites per cell with an apparent Kd of 1.2 x 10(-10) M. Interestingly, the binding of [125I]-FGF-2 on PDL cells reached its maximum at d 6 of the culture and then gradually decreased. Scatchard analysis also demonstrated that the number of FGFRs on a PDL cell was altered during the course of the culture, while the affinity between FGF-2 and its receptor was not. The responsiveness of PDL cells to FGF-2, which was monitored by the inhibitory effect on alkaline phosphatase activity, was reduced in proportion to the decrease in the number of FGFRs on the PDL cells. The present study suggests that PDL cells alter the responsiveness to FGF-2 during the course of the culture by changing the density of its receptor, and that the density of FGFR expression might be a marker of the cytodifferentiation of PDL cells into mineralized tissue forming cells.

Alkaline Phosphatase↗