A predominant increase in the APC gene isoform with exon 9a in a case of attenuated familial adenomatous polyposis.
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Adenomatous Polyposis Coli↗
Biomedical subjects
Y Sekihara
Publications and source records attributed to Y Sekihara.
Perimesencephalic nonaneurysmal subarachnoid haemorrhage and variations in the veins.
Perimesencephalic nonaneurysmal subarachnoid haemorrhage (PN-SAH) is characterised by accumulation of blood around the midbrain, normal angiographic findings and an excellent prognosis. The etiology of PN-SAH has not yet been determined. Therefore we decided to compare the venograms of patients with PN-SAH with those of patients with aneurysmal SAH (A-SAH) in order to examine the relationship between PN-SAH and venous structures. We retrospectively studied 6 patients with PN-SAH and 102 cases of angiographically evaluated A-SAH during the past 12 years by reviewing their venograms for possible abnormalities in venous structures, particularly in the basal vein of Rosenthal (BVR). More abnormalities in venous structures were found in the patients with PN-SAH than in those with A-SAH. Most of the BVR in the patients with PN-SAH appeared to drain into various dural sinuses instead of the galenic system. The relationship between PN-SAH and abnormalities in venous structures was determined.
Aged↗
Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.
The purpose of this investigation is to study the frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. Mutation analysis of BRCA1 and BRCA2 by SSCP was conducted on the 113 breast cancer patients (probands) with at least 1 breast cancer (site-specific breast cancer families, n = 101) or 1 ovarian cancer (breast/ovarian cancer families, n = 12) patient in their first-degree relatives. Fifteen deleterious mutations (13.3%), including 8 nonsense and 7 frameshift mutations, were identified in BRCA1, and 21 deleterious mutations (18.6%), including 8 nonsense, 12 frameshift and 1 splice-site mutations, were identified in BRCA2. In site-specific breast cancer families, mutation frequency of BRCA1 or BRCA2 was high in families with 3 or more breast cancer patients (36%, 9/25), early onset (40 < or = years old) breast cancer patients (38%, 19/50) or bilateral breast cancer patients (40%, 6/15). In breast/ovarian cancer families, mutations of BRCA1 (58.3%, n = 7), but not BRCA2 (0%, n = 0), were observed. BRCA1 codon 63 (TTA to TAA) nonsense mutation and BRCA2 frameshift mutation (5802 del AATT) were observed in 4 and 7 independent families, respectively. Haplotype analysis has suggested that carriers of each of these mutations have common ancestors. These results demonstrate that family profiles are important determinants of risk for carrying a BRCA1 or BRCA2 mutation and that cumulative frequency of BRCA1 and BRCA2 mutations in Japanese breast cancer families (31.9%) is within the range observed in Caucasian breast cancer families. Presence of Japanese founder mutations has also been suggested.
Adult↗
[Neuro-Behcet disease mimicking a thalamic tumor].
A case of neuro-Behcet disease presenting as a thalamo-lenticular expanding lesion is reported. A 41-year-old female was admitted with mental deterioration and right hemiparesis. She had been suffering from recurrent oral and genital ulcers and erythema nodosum for several years before admission. Neurological examination on admission revealed poor mental activity, dysarthria and right hemiparesis. Lumbar puncture showed CSF pleocytosis. CT and MRI revealed a thalamo-lenticular expanding lesion. CT showed a homogeneous hypodense lesion of the left lenticulothalamic region, which was enhanced in the central part, exerting a mild mass effect. MRI also revealed the lesion better. The T2 weighted images showed a high intensity signal in the left thalamo-lenticular region and the left peduncle. The T1 weighted images showed a low signal in the corresponding areas with a central enhancement with Gd-DTPA. EEG, SPECT and angiography indicated normal findings. Histologic study of the brain biopsy tissue ruled out a tumor but did not show any specific diagnosis. The patient improved with steroid therapy. In conclusion, the clinical and radiological presentation of neuro-Behcet disease can mimic a cerebral tumor. In such cases, stereotactic biopsy is useful to exclude suspicion of a cerebral tumor.
Adult↗
[Detection of the occluded artery in cerebral infarction by MRI].
The appearance of flowing blood can be evaluated using magnetic resonance imaging (MRI). Depending on the velocity and direction of the flow, flowing blood has a variable appearance in MR images. Rapidly flowing blood which runs perpendicular to the imaging plane shows no signal (high velocity signal loss). Slow laminar flow has a stronger signal to the adjacent tissue when blood vessels run perpendicular to the imaging plane (flow related enhancement), and so when blood vessels course within the imaging plane (even echo rephasing). Considering these phenomena, we attempted to evaluate the occluded arteries in cases with cerebral infarctions. The occluded arteries showed high signal intensities both on T1 and T2 weighted images in all cases. A few cases whose occluded arteries had recanalized on angiography showed no signal in both images. It was found that the occluded site of internal carotid, middle cerebral or basilar artery could be identified on MRI. On the other hand, atherosclerotic middle cerebral arteries showed double linear high intensities along the arterial walls on both images. We speculated that these high intensities represented atherosclerotic plaque, slow laminar flow or thrombus along the artery. MR imaging could depict arterial occlusion, slow flow and thrombus.
Adult↗
Auditory brainstem response during systemic hyperthermia.
The relationship between the brain temperature and the latency of ABR was evaluated in a dog model of systemic hyperthermia induced by heating of the blood during extracorporeal circulation. The latency of ABR was shortened and the amplitude was reduced with the elevation of brain temperature. The shortening of the latency was more notable in wave 4 than in wave 1, and this is considered to have been due to greater changes in the conduction velocity in the central nervous system than in peripheral nerves. The latency of ABR, from which the brain temperature can be estimated, is considered to be clinically useful as an index of brain temperature during systemic hyperthermia.
Animals↗
Drug delivery to the brain using thermosensitive liposome and local hyperthermia.
We investigated the possibilities of drug delivery to the brain using thermosensitive liposomes and hyperthermia. Thermosensitive liposomes are small vesicles containing some drugs, which are designed to release the drugs in response to hyperthermia. The first experiment consisted of four groups: (1) received free Cisplatin: cis-diamminedichloroplatinum (CDDP); (2) received free CDDP and above 41 degrees C local brain heating for 30 min; (3) received liposomes containing CDDP (CDDP-liposome); and (4) received CDDP-liposome and above 41 degrees C local brain heating for 30 min. Brain CDDP levels were significantly higher in (4), while those on the other groups were undetectable. In the second experiment, we studied the distribution of Evans blue (Eb) in the artificially heated region of mongrel dogs' brain. One group received free Eb and the other group received liposomes containing Eb (Eb-liposome). While the extravasation of free Eb was localized in regions heated > 44 degrees C, that of Eb-liposome was extended up to the regions heated at 41 degrees C. We concluded that the use of thermosensitive liposomes and hyperthermia not only contributes to the brain tumour killing as direct thermal killing does but also helps to increase the concentration of chemotherapeutic drugs into the tumour invaded zones with mild local hyperthermia of 41 degrees C.
Animals↗