[Clinical features of a senior patient with Williams syndrome].

We experienced a case of 62-year-old woman who was admitted for the evaluation of her trembling hands. She was diagnosed as Williams syndrome (WS) by fluorescent in situ hybridization (FISH) analysis. She was short in stature, had a characteristic face and moderate mental retardation, whereas she was talkative and gregarious. She also presented impaired visuospatial cognition, cerebellar ataxia and tremor like involuntary movement of the hands. No remarkable abnormality is noted in MRI of the brain. MRA study of the brain revealed the arteriosclerotic vascular change, such as elongation of basilar artery and dilatation of bilateral carotid arteries. Heterozygous microdeletion of chromosome 7q11.23 of this patient is typical for WS, the delction including elastin (ELN) and LIMK 1 gene. Although she was complicated by diabetes mellitus and hyperlipidemia, she had no cardiovascular abnormalities like supravalvular aortic stenosis (SVAS), and survived to her age in good condition. The tremor-like involuntary movement disappeared after her discharge and its mechanism remains to be elucidated.

Carotenoid synthesis in Streptomyces setonii ISP5395 is induced by the gene crtS, whose product is similar to a sigma factor.

In many species of actinomycetes, carotenogenesis can be photoinduced. The capacity to respond to photoinduction is, however unstable and, in various strains of Streptomyces, is lost at a relatively high frequency. In Streptomyces setonii ISP5395, which normally produces no carotenoids, carotenoid-producing mutants can be obtained following protoplast regeneration. We report here the characterization of a gene, crtS, which was isolated from one such mutant and can confer on wild-type S. setonii ISP5395 cells the capacity to synthesize carotenoids. Sequence analysis of crtS reveals an open reading frame, which shows homology to genes that encode alternative sigma factors in Bacillus subtilis. We propose that crtS encodes a sigma factor which is necessary for the expression of a cryptic gene(s) for carotenoid biosynthesis in S. setonii ISP5395.

[A case of aortitis syndrome which presented coarctation of aorta due to intraluminal flap formation in the middle of the thoracic aorta].

We present a rare case of aortitis syndrome associated with dilatation of aorta and coarctation-like effect due to the intraluminal flap formation originated from dissected wall of the aorta. A 31-year-old woman was admitted to our hospital complaining of shortness of breath, palpitation and cough. On admission, her physical status showed congestive heart failure and hypertension of upper extremities and hypotension of lower extremities. Bruits were audible over the neck, the anterior chest and the back. Serological studies showed active inflammation. Chest X-ray film showed upper mediastinal widening, cardiomegaly and pulmonary edema. Aortitis syndrome was strongly suggested by these clinical findings, so that prednisolone therapy was started on 3rd hospital day. Special examinations were performed several days later when inflammatory changes showed a tendency to improve. Chest CT scan, RI angiography and MRI studies showed an aneurysmal dilatation from the ascending aorta to the mid-thoracic aorta. Aortography demonstrated a flap at the terminal portion of this aneurysmal dilatation and grade II (Sellars) aortic regurgitation. There was a pressure difference of 80 mmHg between the parts abutting cranial and caudal sides of the flap. A surgical operation was, then, performed to correct the pressure difference. The dissected wall was extruded toward the aortic lumen creating a flap (2 cm in length). This flap was resected and an artificial graft was inserted. Histologically, the flap consisted of adventitia, media and intima.(ABSTRACT TRUNCATED AT 250 WORDS)

Stereochemical studies of a selenium-containing hydrogenase from Methanococcus vannielii: determination of the absolute configuration of C-5 chirally labeled dihydro-8-hydroxy-5-deazaflavin cofactor.

Reduction of 7,8-didemethyl-8-hydroxy-[5-2H]-5-deazariboflavin by the selenium-containing hydrogenase from Methanococcus vannielii gave a C-5 chirally labeled 1,5-dihydro derivative. The absolute configuration of the chiral label was shown to be (R) by comparison of the chemically degraded product with authentic samples of known absolute configurations. Therefore, the steric course of the enzymic reactions involving the 8-hydroxy-5-deazaflavin cofactor can be defined as follows: (a) reduction occurs on the si face of the 5-deazaflavin molecule; (b) oxidation proceeds by the abstraction of the pro-S hydrogen at C-5 of the 1,5-dihydro-5-deazaflavin. Thus, the selenium-containing hydrogenase and 8-hydroxy-5-deazaflavin-dependent NADP+ reductase from M. vannielii are si face specific.