Missense mutation in exon 2 of alpha-galactosidase A in a patient with Fabry disease.
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Adult↗
Biomedical subjects
K Ichimura
Publications and source records attributed to K Ichimura.
Environmental stress response in plants: the role of mitogen-activated protein kinases.
Mitogen-activated protein kinase (MAPK) cascades have essential roles in diverse intracellular signaling processes in plants, animals and yeasts. In plants, transcription of genes encoding protein kinases involved in MAPK cascades is upregulated by environmental stresses and plant hormones; in addition, MAPK-like kinase activities are transiently activated in response to environmental stresses. Consequently, MAPK cascades are now thought to have important roles in stress signal transduction pathways in higher plants.
Phosphorylation↗
The significance of arytenoid edema following radiotherapy of laryngeal carcinoma with respect to residual and recurrent tumour.
We sometimes experience patients with persistent or progressive arytenoid edema, among which residual or recurrent cancer is often accompanied. Because it is difficult to distinguish tumour rest or recurrence from normal tissue sequelae in the early period after irradiation, it is important to know both the contributing factors for arytenoid edema, and the incidence of residual or recurrent tumours in patients with postirradiation laryngeal edema. We therefore reviewed the charts of 67 patients with early laryngeal carcinoma who had received a curative dose of irradiation in the last 5 years. Fourteen patients (20.9%) had moderate or severe laryngeal edema persisting for or developing at more than 3 months after completion of a course of definitive radiotherapy. The incidence was highest in supraglottic T2 disease, followed by glottic T2 tumour. Of the 14 patients with edema, six (42.9%) had persistent or recurrent disease. The primary disease was uncontrolled in 18 patients, 17 of whom received successful salvage surgery. In patients without residual tumours, the edema was usually moderate and resolved within a year, although four patients had chronic edema lasting more than a year after treatment. All four had supraglottic T2 lesions and received 70 Gy of X-ray. We also reviewed, for sake of comparison, the records of 38 patients treated with radiotherapy at doses of more than 40 Gy between 1975 and 1980, when endoscopic microsurgery for laryngeal cancer was introduced as a primary part of treatment. The incidence of persistent or late developed edema over the period, though not significant, was 36.8%: nearly twice that of the last 5 years. Microscopic endolaryngeal surgical procedures seem to have been a causal factor for edema in this period.
Adult↗
Parenchymal damage in the territory of the anterior choroidal artery following supraophthalmic intracarotid administration of CDDP for treatment of malignant gliomas.
We treated ten patients with malignant glioma by intracarotid chemotherapy with cis-diamminedichloroplatinum (CDDP) and/or 3-(4-amino-2-methyl-5-pyrimidinyl)methyl-1-(2-chloroethyl)-3-nitrosourea (ACNU). Three of the patients who underwent supraophthalmic intracarotid infusion of CDDP developed a low-density area in the basal ganglia on CT scan or an enhancing lesion in the hypothalamic region on MRI, with or without neurologic symptoms. No patient had such complications with supraophthalmic infusions of ACNU, or with cervical intracarotid infusion of CDDP or selective infusion of CDDP via the anterior or middle cerebral arteries. Supraophthalmic intracarotid administration of CDDP may augment drug delivery to tumors and prevent visual complications, but is accompanied by considerable risk of parenchymal damage in the territory of the anterior choroidal artery. Possible mechanisms for such complications are discussed.
Adult↗
Infrequent methylation of CDKN2A(MTS1/p16) and rare mutation of both CDKN2A and CDKN2B(MTS2/p15) in primary astrocytic tumours.
In a series of 46 glioblastomas, 16 anaplastic astrocytomas and eight astrocytomas, all tumours retaining one or both alleles of CDKN2A (48 tumours) and CDKN2B (49 tumours) were subjected to sequence analysis (entire coding region and splice acceptor and donor sites). One glioblastoma with hemizygous deletion of CDKN2A showed a missense mutation in exon 2 (codon 83) that would result in the substitution of tyrosine for histidine in the protein. None of the tumours retaining alleles of CDKN2B showed mutations of this gene. Glioblastomas with retention of both alleles of CDKN2A (14 tumours) and CDKN2B (16 tumours) expressed transcripts for these genes. In contrast, 7/13 glioblastomas with hemizygous deletions of CDKN2A and 8/11 glioblastomas with hemizygous deletions of CDKN2B showed no or weak expression. Anaplastic astrocytomas and astrocytomas showed a considerable variation in the expression of both genes, regardless of whether they retained one or two copies of the genes. The methylation status of the 5' CpG island of the CDKN2A gene was studied in all 15 tumours retaining only one allele of CDKN2A as well as in the six tumours showing no significant expression of transcript despite their retaining both CDKN2A alleles. Three tumours (one of each malignancy grade studied) were found to have partially methylated the 5' CpG island of CDKN2A. It appears that in human astrocytic gliomas point mutations of the CDKN2A and CDKN2B genes are uncommon and hypermethylation of the 5' CpG region of CDKN2A does not appear to be a major mechanism for inhibiting transcription of this gene.
Astrocytoma↗
Characteristics and pathogenicity of non-melibiose-fermenting strains of Yersinia pseudotuberculosis O3.
The biological properties of non-melibiose-fermenting (NMF) strains of Yersinia pseudotuberculosis O3 were investigated. These strains were clearly distinguished from representative melibiose-fermenting (MF) strains of Y. pseudotuberculosis O3 by their pathogenicity in mice, sensitivity to some phages, production of catalase, restriction endonuclease analysis of virulence plasmid DNA with BamHI, detection of specific yersinia outer-membrane proteins with SDS-PAGE, antigenicity of the outer-membrane proteins and neutrophil resistance to phagocytosis. The pathogenicity of NMF strains was clearly less than that of MF strains. In addition, the resistance of NMF strains to phagocytosis and catalase activity was evidently weaker than that of MF strains. These results suggested that the difference of pathogenicity was due to the ability of catalase production. Although the relationship between the above characteristics and melibiose-fermentation was not analysed, the pathogenicity of Y. pseudotuberculosis O3 strains can probably be predicted by testing melibiose-fermentation and catalase production.
Animals↗
[Regulation of plant MAP kinase cascade by environmental stresses and plant hormones].
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Animals↗
[Effects of eicosapentaenoic acid in patients with bronchial asthma].
Eicosapentaenoic acid (EPA) is composed of 20 unsaturated fatty acids and is similar to arachidonic acid. Epadel, the drug made from EPA, is reported not only to reduce levels of serum lipids, but also to have antiinflammatory and antiallergic effects. EPA may exert these effects via control of the production of prostanoids and leukotrienes. We studied the effects of EPA in patients with bronchial asthma who had hyperlipidemia. The patents were given EPA at 1800 mg/day and they recorded signs and symptoms in an asthma diary during a 2-week observation period and the 8 weeks during which they took the drug. Peak flow, leukotriene B4 concentration in urine, Leukotriene E4 concentration in urine, IgE level, total cholesterol level, and triglyceride level were measured before and after the 8 weeks of medication. Administration of EPA was associated with improvements in symptom score, therapeutic score, asthma score, and peak flow. EPA may be useful in patients with asthma complicated by hyperlipidemia.
Adult↗
[Status of long-term administration of macrolide antibiotics in small dosages: a survey based on questionnaires].
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Anti-Bacterial Agents↗
Refined mapping of 12q13-q15 amplicons in human malignant gliomas suggests CDK4/SAS and MDM2 as independent amplification targets.
We have reported previously that about 15% of anaplastic astrocytomas and glioblastomas show amplification and overexpression of one or more genes from chromosomal segment 12q13-q15 (G. Reifenberger et al., Cancer Res., 54, 4299-4303, 1994). The genes most frequently amplified and overexpressed were CDK4 (with coamplification of SAS) and MDM2. Because individual malignant gliomas showed CDK4/SAS amplification but no MDM2 amplification and vice versa, the possibility remained of a common amplification target gene located between CDK4 and MDM2. We have addressed this question by performing a detailed amplicon mapping of a series of 24 primary malignant gliomas and two glioblastoma cell lines with 12q13-q15 amplification. All tumors and cell lines were analyzed at eight gene loci and six anonymous loci from 12q13-q15, including seven loci located between CDK4 and MDM2. These studies revealed two centers of amplification, one at CDK4/SAS and the other at MDM2. A number of loci located close to either MDM2 or CDK4/SAS, including the genes GADD153, GLI, RAP1B, A2MR, and IFNG, were found to be coamplified in some tumors but not overexpressed consistently. All amplicons were discontinuous between CDK4/SAS and MDM2. Our results thus exclude a common amplification target between CDK4/SAS and MDM2 and provide additional evidence that these genes represent two independent targets of selection.
Adult↗
Human glioblastomas with no alterations of the CDKN2A (p16INK4A, MTS1) and CDK4 genes have frequent mutations of the retinoblastoma gene.
A series of 195 human gliomas were studied as to the status of their CDKN2A, CDK4 and RB1 genes. Among 120 glioblastomas, 40% had no wild-type CDKN2A gene, 12% amplified the CDK4 gene, and 14% had no wild-type RBI gene. With two exceptions, each tumour had only one of these abnormalities. Thus the majority of the glioblastomas (64%) had distinct genetic aberrations which would obviously disrupt the control of transition from G1 to the S-phase of the cell cycle. A further 30% had loss of one allele of the CDKN2A and/or RBI genes. Only seven (6%) glioblastomas had no abnormalities of these genes. Anaplastic astrocytomas showed similar changes to the glioblastomas but at lower frequencies-34% showing no aberrations of the genes analysed. The astrocytomas showed solely loss of one allele of the RBI gene in 28% of tumours, with retention of one wild-type copy. In the glioblastomas with no alterations of CDKN2A, CDK4 or RB1, several other genes (CCND1, CCND2, CCND3, CDK6, E2F, CDK7, MYC and MYCN) whose products take part in cell cycle regulation were examined. No abnormalities were detected. Thus some aberration of the CDKN2A, CDK4 and RB1 genes appears to be almost obligatory in glioblastomas.
Astrocytoma↗
Auditory brainstem responses in infants and children with anoxic brain damage due to near-suffocation or near-drowning.
We studied auditory brainstem responses (ABRs) of sixteen infants and children with brain damage after anoxic accidents due to near-suffocation or near-drowning. The patients manifested cerebral palsy, mental retardation and/or epilepsy and showed poor responses in the behavioral audiometry. Auditory brainstem responses were abnormal in five of the patients in the near-drowning group (waves I, II and III only were present in three patients and the amplitudes of waves IV and V were low in two patients) but normal in most of the patients in the near-suffocation group. This difference in the ABRs between the two groups suggest that in infants and children anoxic brain damage due to near-drowning might involve not only the cerebral cortex and subcortical white matter but also the upper brainstem and midbrain.
Brain Injuries↗
Effect of new macrolide roxithromycin upon nasal polyps associated with chronic sinusitis.
We often observe shrinkage of nasal polyps with low-dose long-term macrolide treatment, which was recently developed in Japan for the treatment of intractable chronic sinusitis. In order to assess the efficacy of this treatment for nasal polyps, we administered the new macrolide roxithromycin (RXM) (1 tablet: 150 mg a day) for at least 8 weeks to 20 patients with nasal polyps associated with chronic sinusitis. It was competent in controlling nasal polyp with the overall incidence of improvement being 52%. The combination of RXM with azelastine (1 mg twice/day), an inhibitor of mediator release, was examined in 20 other patients. It augmented the rate of improvement to 68%, but the increase was not significant. The incidence of improvement increased with time after the start of medication in both groups. Smaller polyps were more likely to decrease in size, but some larger polyps also markedly decreased in size. Associated allergic conditions and the extent of eosinophilic infiltration had no relation to the treatment result. We speculate that the mechanism of effectiveness of RXM is through its suppressive potency in cytokine production from inflammatory cells.
Adult↗
Surgical management of the plunging ranula: a review of seven cases.
We have treated seven patients with a plunging ranula during the past 10 years. All patients underwent surgery via a cervical approach. In two, the ranula reached the anterior neck by passing through a dehiscence in the mylohyoid muscle, while in the other five the plunging ranula passed posteriorly to the mylohyoid muscle. A pseudocyst was extirpated in each patient. Although total sublingual gland excision was not performed in two patients, no recurrence was observed in any patient. Incision of the pseudocyst facilitated subsequent procedures and decreased the incidence of transient facial paralysis. In the presence of a cervical mass without swelling of the oral floor, a cervical approach may still be the method of choice either for the first operation or for salvage surgery after recurrence subsequent to intraoral procedures. It is based on the fact that there may be ectopic sublingual glands residing on the inferior surface of the mylohyoid muscle.
Adolescent↗
Ontogenic changes in the expression of cytochrome c oxidase subunit I gene in the cerebellar cortex of the perinatal hypothyroid rat.
The thyroid hormone plays a critical role in normal development of the mammalian central nervous system. This study was designed to examine the effect of perinatal hypothyroidism on ontogenic change in cytochrome c oxidase subunit I (COX I) gene expression in the rat cerebellum by using quantitative in situ hybridization histochemistry (ISH). Newborn rats were rendered hypothyroid by continuous administration of methimazole in the mothers' drinking water. The pups were then killed by decapitation on 1, 5, 10, 15, 20, and 30 days after birth (P1, P5, P10, P15, P20, and P30). Their cerebella were removed, and frozen sections were cut and processed for ISH with 35S-labeled RNA probe for COX I messenger RNA. After hybridization, emulsion autoradiography was performed. The numbers of grains within the external granule cell layer, molecular layer, and internal granule cell layer were then counted. A significant decrease in grain density was detected in the hypothyroid animal in all these areas on P5, P10, and P15. On P15, in the molecular layer, a greater hybridization signal was detected in the inner portion than in the outer portion in the euthyroid animal. No such difference was seen in the hypothyroid animal. Daily T4 treatment for 15 days restored the effect of methimazole treatment. The significant effect of perinatal hypothyroidism on COX I gene expression was not detected after P20. These results indicate that altered thyroid states affect the COX I gene expression in the cerebellar cortex during development, suggesting that the COX I gene is one of the key genes regulated by the thyroid hormone and plays an important role in the morphogenetic changes observed in the perinatal hypothyroid cerebellum.
Aging↗
[Investigation of "anosmic zones" associated with nasal allergy].
Twenty-seven nasal allergy patients suffering from olfactory disturbance were evaluated in this study. The intravenous olfaction test yielded almost normal responses in 27 cases. The standard olfactory acuity test, however, showed that the mean thresholds of detection of each odor were almost the same, while the mean thresholds of recognition of odors A and E were higher than those of the other odors. Douek has reported selective olfactory loss in patients with vasomotor rhinitis including allergic rhinitis and proposed the concept of "anosmic zones". By modifying the definition of "anosmic zones" in order to use it for the results of T & T olfactometry, we identified 8 patients who exhibited anosmic zones among 27 subjects. These results were inconsistent with the proposed mechanism that nasal obstruction causes olfactory disturbance in patients suffering from nasal allergy. Therefore, the specific factors related to nasal allergy may influence olfaction. We speculate that the pathological changes in the olfactory mucosa may induce secondary abnormalities in olfactory transduction, particularly at the point of signal transduction in olfactory cells. Other possibilities to explain anosmic zones were also discussed.
Adolescent↗
Epidermal growth factor receptor expression in oligodendroglial tumors.
A series of 13 oligodendrogliomas (WHO grade II) and 20 anaplastic oligodendrogliomas (WHO grade III) was studied for gene amplification and expression of the epidermal growth factor receptor gene (EGFR). EGFR gene amplification was found in only one case of anaplastic oligodendroglioma, which additionally showed a deletion/rearrangement at the 5' end of the gene. Northern blot analysis, however, revealed increases of EGFR mRNA expression relative to non-neoplastic control brain in 6 of 13 oligodendrogliomas and 10 of 18 anaplastic oligodendrogliomas. All cases with increased mRNA expression showed strong immunoreactivity for EGFR protein. Our findings thus indicate that increased expression of EGFR mRNA and protein is common in low-grade and high-grade oligodendroglial tumors and in the vast majority of cases is not caused by gene amplification.
Adolescent↗
[A case of middle cranial fossa meningioma extending into the infratemporal fossa: an approach to the pterygoid extension of the sphenoid sinus via the infratemporal fossa].
A case of middle cranial fossa meningioma extending into infratemporal fossa and the pterygoid process is presented. The patient had a sphenoid sinus extending inferolaterally into the pterygoid process, which is known as pterygoid extension of the sphenoid sinus. This type of variation of the sphenoid sinus allowed a safe and well-oriented approach to the pterygoid process via the infratemporal fossa. The tumor extending into the pterygoid process was removed successfully without damaging any surrounding structures, e.g. maxillary nerve or Vidian nerve. However, pterygoid extension of the sinus is seen in only 40% of cases. Therefore, close preoperative examination with bone window CT scan is mandatory before employing this approach.
Cranial Fossa, Posterior↗