Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease.

The apolipoprotein E (APOE) gene has been consistently shown to be a major genetic risk factor; however, all cases of Alzheimer's disease (AD) cannot be attributed to the epsilon4 variant of APOE, because about half of AD patients have the APOE-epsilon3*3 genotype. To identify an additional genetic risk factor(s), we performed large-scale single nucleotide polymorphism (SNP)-based association analysis of 1526 late-onset AD patients and 1666 control subjects in a Japanese population. We prepared two independent sets consisting of exploratory and validation samples, respectively, with only the APOE-epsilon3*3 genotype, and first carried out genotyping for the exploratory set with 1206 SNPs in the region between 60 and 107 Mb on chromosome 10q that is implicated by linkage studies as containing an AD susceptibility locus.

Clinical marginal and internal gaps of Procera AllCeram crowns.

This study evaluated the marginal and internal gaps of Procera AllCeram crowns in vivo using silicone materials. Ninety Procera AllCeram crowns were evaluated before final cementation. White and black silicone materials were used to record the marginal and internal fit; then the crowns were sectioned bucco-lingually and mesio-distally to measure the thickness of the silicone layer using a microscope.

A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease.

We report early-onset parkinsonism and dementia of 18 years' duration in a 52-year-old man whose grandfather and father had suffered from a similar neurological disease. In this patient, we found neuronal loss in various brain regions including the substantia nigra and cerebral cortex, Lewy bodies, cotton wool plaques, corticospinal tract degeneration, cerebral amyloid angiopathy, and a novel three-base pair deletion in exon 12 of the presenilin-1 (PSEN1) gene. We considered that the mutant PSEN1 might play an important role in the pathogenetic process of both aggregation of alpha-synuclein into Lewy bodies and deposition of beta-amyloid into cotton wool plaques.

[A case of cT0N2M0 small cell lung cancer with Lambert-Eaton myasthenic syndrome].

We encountered a very rare case of cT0N2M0 small cell lung cancer (SCLC) with Lambert-Eaton myasthenic syndrome (LEMS). A 69-year-old man with a complaint of muscle weakness was admitted to our hospital. Although his chest radiograph on admission showed no abnormal findings, CT scanning detected a mediastinal lymphadenopathy.

A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.

Hypohidrotic ectodermal dysplasia (HED) is a genetic disease characterized by abnormal hair, teeth, and sweat gland development. Although most cases of HED display X-linked recessive inheritance, autosomal dominant and autosomal recessive forms also exist. X-linked HED is caused by mutations in the EDA gene, and the autosomal forms result from mutations in either the EDAR gene or the EDARADD gene.

Effects of a high-monounsaturated fat diet on glucose and lipid metabolisms in normal and diabetic mice.

The beneficial effects of high-monounsaturated fat (high-MUFA) diets on diabetic patients have been reported, whereas studies concerning the effects on animals have been few. Although experiments on animals should be useful in elucidating underlying mechanisms, it is not clear even whether there are benefits of a high-MUFA diet in animals. This study examined the short-term effects of a high-MUFA diet on normal and genetically diabetic mice.

Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.

The authors identified two Japanese spinocerebellar ataxia (SCA) families characterized by postural and action tremor and a very slow progression rate. A genome-wide linkage analysis revealed linkage to chromosome 3p26.1-25.

Oxygen administration improves the serum level of nitric oxide metabolites in patients with obstructive sleep apnea syndrome.

Objectives And Background: Nocturnal apnea and hypoxia are implicated in the pathogenesis of pulmonary and systemic hypertension in obstructive sleep apnea syndrome (OSAS). We have hypothesized that vasodilating factors including nitric oxide (NO) are affected by nocturnal apnea and hypoxia in patients with OSAS.

Method: We examined the serum level of NO production in 24 patients with OSAS (mean age 54.

Effects of oxygen administration on the circulating vascular endothelial growth factor (VEGF) levels in patients with obstructive sleep apnea syndrome.

Objective: Repeated nocturnal hypoxia is implicated in the pathogenesis of cardiovascular complications in obstructive sleep apnea syndrome (OSAS). We hypothesized that circulating vascular endothelial growth factor (VEGF) levels are affected by nocturnal hypoxemia in patients with OSAS.

Methods: We examined the serum VEGF levels in patients with OSAS and in control subjects.

Nucleophilic acylation of arylfluorides catalyzed by imidazolidenyl carbene.

Imidazolidenyl carbene catalyzes nucleophilic acylation reaction of arylfluorides with electron withdrawing groups to give benzophenone derivatives.

[Questionnaire on the attitude of the physicians in educating the elderly patients with chronic obstructive pulmonary disease about smoking cessation].

Smoking status, the extent of recognition of the relationship between smoking and COPD, and actual nature of education for smoking cessation by physicians have not yet been fully elucidated. To investigate perceptions about education for smoking cessation in the elderly by physicians who work in the clinic, questionnaires were sent to the 1,012 physicians who belong to the Yokohama City Medical Association. Of these, 311 respond and their data (31%) were included in the analysis.

Analysis of exhaled nitric oxide by the helium bolus method.

Study Objectives: The precise anatomic sites contributing to exhaled nitric oxide (eNO) are still unknown. The present study was designed to analyze profiles of eNO by referring to the He exhalation curve and examining the effects of breath-holding and expiratory flow rates on eNO.

Participants: Healthy volunteers and patients with stable asthma.

Validation of a liquid chromatographic-tandem mass spectrometric method for the measurement of (R)-1-[2,3-dihydro-2-oxo-1-pivaloylmethyl-5-(2-pyridyl)-1H-1,4-benzodiazepin-3-yl]-3-(3-methylaminophenyl)urea (YF476) in human plasma.

A sensitive and specific liquid chromatographic-tandem mass spectrometric (LC-MS-MS) method has been validated for the measurement of YF476 in human plasma. The method involves a simple liquid-liquid extraction procedure, chromatography of the extracts on a C(18) column, atmospheric pressure chemical ionisation and detection in the multiple reaction monitoring mode. The calibration line was linear over the concentration range 0.

[Chronic obstructive pulmonary disease (COPD) in the elderly: analysis from questionnaire about attitudes to the COPD guideline of the Japanese Respiratory Society and actual therapy for COPD used by physicians].

We have conducted a survey of attitudes to chronic obstructive pulmonary disease (COPD) in the elderly, a survey of attitudes to the COPD guideline prepared by the Japanese Respiratory Society, and a survey of the therapies actually used for this disease among physicians belonging to the Yokohama Medical Association. The results showed that most respondents thought that physicians, mainly except for respiratory physicians, miss the COPD patients because of failure to recognize COPD. The spread of the COPD guideline among physicians and the amount of therapy conducted according to this guideline were also insufficient.

New mu-opioid receptor agonists with phenoxyacetic acid moiety.

New muq-opioid receptor (MOR) agonists containing 4-hydroxypiperidine, piperidine and piperazine moieties were synthesized and evaluated to find a peripheral opioid analgesic. Among the synthesized compounds, 12-[1-[3-(N,N-dimethylcarbamoyl)-3,3-diphenylpropyl]-4-hydroxypiperidin-4-yl]phenoxy]acetic acid (8: SS620) having phenoxyacetic acid and 4-hydroxypiperidine moieties showed the highest agonist potency on the MOR in an isolated guinea-pig ileum preparation, and it also had selectivity to the human MOR expressed in Chinese hamster ovary (CHO)-K1 cells compared with the same types of delta- and kappa-opioid receptors (DOR and KOR). In addition, compound 8 showed a 10 times more potent MOR agonist activity than loperamide.

Crystal and solution structures of photochromic spirobenzothiopyran. First full characterization of the meta-stable colored species.

Full elucidation for stable, colorless, and meta-stable colored structures of a new spirobenzothiopyran has been achieved both in the solid state and in a solution. 1',3',3'-Trimethyl-6-nitrospiro[(2H)-1-benzothiopyran-2,2'-indoline] with an ester group as a substituent at the 8-position of 1-sp shows photochromism. The blue-green colored species resulted from UV irradiation (365 nm) in one minute and spontaneously bleaches within one minute in acetone and methanol at 27 degrees C.

A manic episode associated with bereavement in a patient with lung cancer. A case report.

We describe a manic episode associated with bereavement in a lung cancer patient. The patient became manic 4 days after the death of a close friend also suffering from lung cancer, though the deceased was not a member of his immediate family. Manic episodes in cancer patients are rare, and our report of a manic episode associated with bereavement may also serve to highlight possible precipitating factors, which have not been adequately emphasized in the literature to date.

Five different genes, Eif4a1, Cd68, Supl15h, Sox15 and Fxr2h, are clustered in a 40 kb region of mouse chromosome 11.

We characterized a region of the mouse genome disrupted by integration of a gene trap (GT) vector in ES cells. On 5' rapid amplification of cDNA ends analysis of the fusion transcripts containing the GT vector, we identified the eukaryotic protein synthesis initiation factor 4A1 gene (Eif4a1) as a promoter-trapped gene. Plasmid rescue was used to show that the other end of the integrated vector disrupted the murine homolog of the human fragile X mental retardation syndrome-related protein 2 gene (Fxr2h).

[Typical thymic carcinoid tumor with multiple metastases diagnosed by pleural effusion cytology].

A 57-year-old man was referred and admitted to our hospital because of anterior mediastinal tumors and pericardial effusion. Although his condition had been diagnosed as thymic cancer by another hospital, a cytologic examination of pleural effusion specimens obtained a positive stain for chromogranin A, and yielded a diagnosis of thymic carcinoid tumor with multiple metastases. Despite irradiation and relief therapy, the patient died 8 months later.

Molecular cloning of a novel 130-kDa cytoplasmic protein, Ankhzn, containing Ankyrin repeats hooked to a zinc finger motif.

A novel gene was trapped in mouse embryonic stem cells with a promoterless gene trap vector. Fused transcripts were isolated from the embryos by rapid amplification of cDNA ends, which were used for full-length cDNA cloning. The protein predicted from the cDNA consisting of 7143 nucleotides comprises 1184 amino acids, which was confirmed by in vitro transcription/translation assaying.

[Fulminant hepatic failure related to immunosuppressive therapy in an asymptomatic HBsAg carrier with idiopathic interstitial pneumonia].

A 72-year-old woman who was an asymptomatic HBsAg carrier was admitted because of productive cough and dyspnea on exertion. After close examination, she was given a diagnosis of idiopathic interstitial pneumonia (IIP), and treated with glucocorticoids and cyclophosphamide. However, fulminant hepatitis type B developed and the patient died of respiratory complications stemming from the acute exacerbation of IIP.

How Many Days in a Year Can Mt. Fuji and the Tokyo Tower Be Seen from the Tokyo Suburban Area?

Mt. Fuji and the Tokyo Tower were observed daily from the Seikei Meteorological Observatory in Tokyo for the past 30 years. The observatory recorded whether each object could be seen at 9:00 a.

[Concentrations of 5-fluorouracil (5-FU) in serum and tissues at venous injection of tegafur or 5-FU--clinical study on colorectal cancer].

Tissue and serum concentrations of 5-fluorouracil (5-FU) after daily slow venous injection of tegafur or 5-FU for 5 days were measured. The serum concentration of 5-FU elevated to the highest level 6 hours after the venous injection (mean: 30 ng/ml). Compared with the tegafur injection, the serum concentration of 5-FU elevated to a higher peak level 6 hours after the 5-FU injection (mean: 827 ng/ml).