The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.

Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is characterized by a liver-specific ASS deficiency with no abnormalities in hepatic ASS mRNA or the gene ASS (refs 1-17). CTLN2 patients (1/100,000 in Japan) suffer from a disturbance of consciousness and coma, and most die with cerebral edema within a few years of onset.

Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.

Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1) (MIM: 212065) is an autosomal recessive disorder with psychomotor retardation, strokelike episodes, ataxia, and olivopontocerebellar atrophy (OPCA) of neonatal onset. Recently, DNA substitutions in a gene for phosphomannomutase 2 (PMM2), mapped to 16p13, were identified in patients with CDG1. Biochemical findings in previously reported Japanese patients with CDG1 were slightly different from those of Caucasians, suggesting genetic heterogeneity of CDG1 in Japanese patients.

Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect.

Spinocerebellar ataxia type 2 is a familial spinocerebellar ataxia with autosomal dominant inheritance. The gene responsible was recently cloned and this disorder was found to be the result of a CAG expansion in its open reading frame. We analysed 13 SCA2 patients in seven unrelated families in Gunma Prefecture, Japan.

Biological activities of 1,1,6-trisubstituted indanes: beyond magainin 2.

MSI-78 is a peptide analog of naturally occurring magainin 2 isolated from the skin of Xenopus laevis. The peptide is known to have one of the strongest antibacterial activities in magainin 2 analogs against methicillin-resistant Staphylococcus aureus (MRSA). To find novel compounds superior to MSI-78, we have further designed, synthesizing 1,1-di(4-aminobutyl)-6-benzylindane (PM4) and 1,1-dibenzyl-6-(4-aminobutyl) indane (PM5), and tested their inhibitory ability of the growth of S.

[A case of juvenile type dentatorubral-pallidoluysian atrophy (DRPLA) with psychomotor retardation since infancy].

We report here a case of an 11-year-old boy with juvenile type of dentatorubral-pallidoluysian atrophy (DRPLA). His psychomotor development has been delayed since infancy and cerebellar ataxia was noted at the age of 2 years, indicating an early onset. At the age of 6 years, he had progressive myoclonus epilepsy (PME) and underwent a series of neuroradiological, electrophysiological and pathological examinations, which failed to reveal the etiology.

Molecular analysis of two pre-mutations in myotonic dystrophy.

Here we report two families with myotonic dystrophy (DM) in which the asymptomatic parent proved to be in a pre-mutation state. Polymerase chain reaction (PCR) analysis of the region spanning the CTG expansion demonstrated that one father of the proband possessed (CTG)n repeats of n = 12 and 44 copies and the other of 15 and 47. Clinical examination showed no definite signs of DM in these two men.

[Long-term administration study of propiverine hydrochloride (BUP-4 tablets) in pollakiuria and urinary incontinence].

The safety and efficacy of one-year administration of propiverine hydrochloride (BUP-4 tablets) were assessed in facilities affiliated with the Department of Urology of Yokohama City University School of Medicine. Changes in subjective symptoms showed significant improvement in mean frequency of urination in the daytime from 10.3 +/- 4.

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.

Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms.

Genetic polymorphism of paraoxonase 1 (PON1) and susceptibility to Parkinson's disease.

Toxicologists have thought that the paraoxonase (PON) enzyme polymorphism might contribute to effects of pollutants and other environmental chemicals on susceptibility to cancer, birth defects and Parkinson's disease (PD). We studied a biallelic PON1 polymorphism at codon 192 (A and B alleles) in 166 patients with sporadic idiopathic PD. The frequency of the B (Arg) allele of PON1 was significantly increased in patients with PD than in healthy controls (chi2=8.

[Prognostic significance of clinical stage including extent of disease (EOD) in prostate cancer].

We analyzed the prognostic significance of clinical stage using extent of disease (EOD) grading system in 288 patients with prostate cancer between 1970 and 1994. The cause-specific survival rate for EOD4 was significantly lower (p < 0.01) than that for the other EOD categories.

Attenuation of nitric oxide-stimulated soluble guanylyl cyclase from the rat brain by halogenated volatile anesthetics.

Purpose: The present study was undertaken to examine whether interaction between halogenated volatile anesthetics and nitric oxide (NO) at soluble guanylyl cyclase (sGC) would occur in rat brain.

Methods: A soluble brain fraction was prepared from extensively perfused Sprague-Dawley rat brains by centrifugation and used as the source of sGC. sGC was incubated with NO and halogenated volatile anesthetics, and cGMP production was determined by enzyme immunoassay in aliquots of the supernatant.

Antibacterial activity of (+/-) 6-benzyl-1-(3-carboxypropyl) indane; a possible way to identify leading novel anti-H. pylori agents.

Magainin 2, isolated from the skin of the Xenopus laevis, is an antimicrobial peptide which reacts directly with the biological membrane to lyse various bacteria from negative and positive microorganisms. In a previous report, we showed that (+/-)1-(4-aminobutyl)-6-benzylindane (PM2), which mimicked the conformation of the side-chains of a complementary unit on the amino acid sequence of magainin 2 analogs, expressed the in vitro antibacterial activity not only against Helicobacter, pylori (ATCC43526, ATCC43579), but also against Escherichia coli (ATCC25922) and Staphylococcus aureus (ATCC25923). In addition, PM2 caused human blood red cells (RBCs) to lyse at the minimum inhibitory concentration (MIC) value.

On the antibacterial activity of normal and reversed magainin 2 analogs against Helicobacter pylori.

Magainin 2 is an antimicrobial peptide isolated from the skin of Xenopus laevis. We have tested the antibacterial activities of normal and reversed magainin 2 analogs against two strains of Helicobacter pylori (ATCC 43526, ATCC 43579), compared with those against Escherichia coli (ATCC 25922) and Staphylococcus aureus (ATCC 25923). Among these analogs, MSI-78A showed the strongest activity against H.

Antibacterial activity of two alkylamines integrated an indane scaffold: mimicry of a complementary unit on magainin 2.

Based on the antibacterial activity of 9-phenylnonylamine (pC9a) against Escherichia coli (ATCC29522) and Staphylococcus aureus (ATCC25923), we have further tested the inhibitory ability of the growth of the bacteria by (+/-)1-(4-aminobutyl)-6-benzylindane (PM2) and (+/-)1-benzyl-6-(4-aminobutyl) indane (PM3), that is, two kinds of 1,6-disubstituted indanes. In an in vitro assay, they showed almost the same antibacterial activities against the bacteria as pC9a, as well as that of magainin 2 analogs (i.e.

[A family of dentatorubral-pallidoluysian atrophy: clinical and neuroradiologic studies].

We described a family of dentatorubral-pallidoluysian atrophy (DRPLA). The mother presented with cerebellar ataxia at 35 years of age and thereafter her neurological symptoms became exacerbated. Her daughter had mental retardation during the preschool period and epilepsy at 10 years.

Genetic association between susceptibility to Parkinson's disease and alpha1-antichymotrypsin polymorphism.

The apolipoprotein E (ApoE*) gene is a major risk factor of developing Alzheimer's disease (AD) and the alpha1-antichymotrypsin (ACT) polymorphism is likely to modify susceptibility of the ApoE* gene for AD. Because pathogenesis of AD is partly similar to that in idiopathic Parkinson's disease (PD), we investigated the distribution of genotypes of the ApoE and the ACT in patients with PD. The number of individuals with two copies of the ACT-A allele (ACT-AA genotype) in patients with PD increased significantly compared to that in healthy controls (19.

[Transmitral flow analysis during the coronary artery bypass surgery].

Left ventricular diastolic function (LVDF) derived from the analysis of Doppler transmitral flow (TMF) has been analyzed. Since little is known about changes of LVDF during cardiac surgery, our aim of this study is to investigate TMF as a predictor of LVDF during the coronary artery bypass surgery (CAB). Twenty-eight patients were enrolled in this study and divided into two groups depending on the ratio of peak early filling (E) and atrial (A) velocity (E/A > or = 1; good LVDF, E/A < 1; impaired LVDF) measured by transesophageal echocardiography after induction of anesthesia.

The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2.

Smith-Magenis syndrome (SMS) is caused by a microdeletion of 17p11.2 and comprises developmental and growth delay, facial abnormalities, unusual behavior and sleep problems. This phenotype may be due to haploinsufficiency of several contiguous genes.

Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy.

Purpose: We explored the characteristics of epileptic seizures of progressive myoclonus epilepsy (PME) in 2 brothers with dentatorubral-pallidoluysian atrophy (DRPLA).

Methods: We obtained the case history of the siblings and ictal and interictal EEGs. Postmortem examination or demonstration of elongated CAG repeat in the gene for DRPLA was used to confirm the diagnosis.

[Comparative histological analysis of needle biopsy specimens, prostatectomized specimens and metastatic lymph nodes in prostatic adenocarcinoma--on the basis of the WHO histological classification].

The histological characteristics were comparatively analyzed among biopsy specimens, surgically removed prostates and metastatic lymph nodes obtained from 60 patients with prostatic adenocarcinoma treated by radical prostatectomy. According to the WHO-Mostifi's classification, the proportion of the 6 histologic components, large and/or small simple glands (LSG), micro-glands (MIC), cribriorm (CRB), fused glands (FUS), medullary/solid (MED) and columns-cords/trabecular (C-C), was determined semiquantitatively. LSG, MIC, and CRB are androgen-sensitive components, while FUS, MED and C-C are androgen-refractory components.