A selective and sensitive method has been developed for the determination of sulphur amino acids by gas chromatography (GC). Sulphur amino acids were converted into their N(S)-isopropoxycarbonyl methyl ester derivatives and measured by GC with flame photometric detection using a DB-17 capillary column. The derivatives were sufficiently volatile and stable to give single symmetrical peaks. The detection limits of sulphur amino acids were ca. 0.5-1 pmol per injection, and the calibration curves were linear in the range 0.5-10 nmol for each sulphur amino acid. This method was successfully applied to small urine samples without prior clean-up, and sulphur amino acids in these samples could be analysed without any influence from coexisting substances. Overall recoveries of sulphur amino acids added to urine samples were 85-113%. The analytical results of free sulphur amino acid contents in urine samples of normal subjects are presented.

Adult↗

PubMedDate not supplied

The usefulness of single photon emission computed tomography in Charles Bonnet syndrome: a case with occipital lobe involvement.

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Aged↗

PubMedDate not supplied

Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.

We identified 14 mutations in 15 Japanese subjects from 13 families with galactose-1-phosphate uridyltransferase (GALT) deficiency using denaturing gradient gel electrophoresis (DGGE) and direct sequence analysis. These mutations accounted for 22 (96%) of 23 mutant alleles in 15 Japanese subjects. The mutational spectrum included nine missense mutations (M142V, G179D, A199T, R231H, W249R, N314D, P325L, R333Q, and R333W), two deletions (L275fsdelT and Q317fsdelC), a nonsense mutation (W249X), and two splicing mutations (V85-N97fsdel38bp and IVS4nt+1). Ten of the 14 mutations have not been reported in Caucasians. Differences in frequency and spectrum of GALT mutations suggest that the mutations may have occurred after racial divergence of Caucasians and Asians. The Duarte variant in Japanese was associated with the N314D mutation, g.1105G > C, g.1323G > A, and g.1391G > A (SacI -) polymorphisms, as in Caucasians. The Duarte variant may have occurred before racial divergence, and was an ancient mutation. In vitro GALT activities of nine missense mutations were determined by a COS cell expression system, and indicated between 1.3% and 35% of wild-type control. Patients with R333Q (29% in vitro GALT activity) or A199T (35%) showed mild clinical phenotypes, i.e. no ovarian failure or neurological deterioration. Genotype determination is useful for predicting biochemical and clinical phenotypes in classic galactosaemia, and can be of further help in managing patients with this disorder.

Adolescent↗

PubMedDate not supplied

A report of unusually high blood ethanol and acetaldehyde levels in two surviving patients.

Two men with unusually high blood acetaldehyde levels of 750 and 2410 micrograms/dl presented only mild symptomatology. Their blood ethanol levels, 730 and 1121 mg/dl, were also extraordinarily high. However, liver function tests demonstrated no abnormalities.

Acetaldehyde↗

PubMedDate not supplied

A rare 6q11+ heteromorphism: cytogenetic analysis and in situ hybridization.

A rare variant of 6q11+ heteromorphism was found in a fetus and the mother during amniocentesis. The G- and Q-banding and DA/DAPI stain were negative. The C-banding was positive and the C-banded segment was 3-fold longer in the variant than in its homologue. Neither of the C-banded regions of chromosomes 6 decondensed when exposed to distamycin A or 5-azacytidine. A DNA replication study indicated that the C-banded variant was late replicating. The lateral asymmetry observed in the 6q11 variant after one replication cycle in 5-bromodeoxyuridine may result from an unequal interstrand distribution of thymidine in the repetitive DNA. Fluorescent in situ hybridization using a chromosome-6-specific alpha-satellite probe (D6Z1) demonstrated hybridization signals on the centromere of chromosome 6. The 6q11 variant showed a signal which was 3-fold larger than its homologue. These results indicate that the 6q11 variant is an amplification of a chromosome-6-specific alpha repeat, and the size of the hybridization signal correlates with the size of the laterally asymmetric and C-banded region.

Amniocentesis↗

PubMedDate not supplied

A secondary aortoenteric fistula, successfully treated with proper preoperative diagnosis.

A rare case, presented as a secondary aortoenteric fistula after an abdominal aortic aneurysmectomy with Y-graft replacement 9 months earlier, is reported. The course was clinically very unique, in that the first manifestation of the aorto enteric fistula occurred while the patient had already been hospitalized after the orthopaedic surgical treatment for the pyogenic vertebral spondylitis. After the episode of gastrointestinal bleeding, radiological studies were promptly collected, and with the proper diagnosis, a successful surgical treatment was given under the stable hemodynamic condition, and the patient recovered uneventfully. Retrospectively considered, there are several findings that would suggest that seemingly a secondary aorto enteric fistula could have resulted from an early process of the primary aorto enteric fistula having been under progress without any detectable manifestations before the previous aneurysmectomy. The diagnostic values of computed tomography and the scintigraphy for this rare clinical entity is also underlined.

Aged↗