Supravalvular aortic stenosis and coronary aneurysm]

A 32-year old woman, with endocarditis caused by Streptococcus mitis, and systolic murmur is presented. The Doppler examination was found a systolic gradient of 150 mmHg. Aortography showed a multiple membranous supravalvular aortic stenosis, with aneurysmal dilatation of the left main coronary artery and circumflex artery, associated with bicuspid aortic valve and mild aortic insufficiency. The patient died suddenly by cardiac arrest in stand by to cardiac surgery. Anatomic comprobation was not possible. The coronary artery anomalies associated with the supravalvular aortic stenosis syndrome are reviewed.     

Indirect microlaryngoscopy

This paper reports on the improvement of the usual technique of indirect laryngoscopy, through the use of an operating microscope with a straight eyepiece and a 300 mm lens in the place of the frontal mirror. The resultant magnification provides for a better diagnosis of laryngeal disorders. The recording of the image on a stroboscopic VCR offers numerous possibilities, such as freeze-frame, zoom, slow motion, 9 or 16 image framing, showing the various positions of the vocal cords. The use of this video technique is of particular interest for the patient and for the practitioner, as well as for reference.     

The types of drugs used by HIV-infected injection drug users in a multistate surveillance project: implications for intervention.

OBJECTIVES. This study sought to describe the drugs used by drug injectors infected with human immunodeficiency virus (HIV) and to determine factors associated with the primary injection drug used. METHODS. A cross-section of persons 18 years of age or older reported with HIV or acquired immunodeficiency syndrome (AIDS) to local health departments in 11 US states and cities was surveyed. RESULTS. Of 4162 persons interviewed, 1147 (28%) reported ever having injected drugs. Of these 1147 injectors, 72% primarily injected a drug other than heroin. However, the types of drugs injected varied notably by place of residence. Heroin was the most commonly injected drug in Detroit (94%) and Connecticut (48%); cocaine was the most common in South Carolina (64%), Atlanta (56%), Delaware (55%), Denver (46%), and Arizona (44%); speedball was most common in Florida (46%); and amphetamines were most common in Washington (56%). Other determinants of the type of drug primarily injected were often similar by region of residence, except for heroin use. Polysubstance abuse was common; 75% injected more than one type of drug, and 85% reported noninjected drug use. CONCLUSIONS. Preventing the further spread of HIV will require more drug abuse treatment programs that go beyond methadone, address polysubstance abuse, and adapt to local correlates of the primary drug used.     

Cysteine Conjugate beta-Lyase-Dependent Metabolism of Compound A (2-[fluoromethoxy]-1,1,3,3,3-pentafluoro-1-propene) in Human Subjects Anesthetized with Sevoflurane and in Rats Given Compound A

Background: Sevoflurane undergoes Baralyme- or soda lime-catalyzed degradation in the anesthesia circuit to yield compound A (2-[fluoromethoxy]-1,1,3,3,3-pentafluoro-1-propene), which is nephrotoxic in rats and undergoes metabolism via the cysteine conjugate beta-lyase pathway in those animals. The objective of these experiments was to test the hypothesis that compound A undergoes beta-lyase-dependent metabolism in humans.

Methods: Human volunteers were anesthetized with sevoflurane (1.25 minimum alveolar concentration, 3%, 2 l/min, 8 h) and thereby exposed to compound A. Urine was collected at 24-h intervals for 72 h after anesthesia. Rats, which served as a positive control, were given compound A intraperitoneally, and urine was collected for 24 h afterward. Human and rat urine samples were analyzed by19 F nuclear magnetic resonance spectroscopy and gas chromatography-mass spectrometry for the presence of compound A metabolites.

Results: Analysis of human and rat urine showed the presence of the compound A metabolites [S-[2-(fluoromethoxy)-1,1,3,3,3-pentafluoropropyl]-N-acetyl-L-cysteine, (E)- and (Z)-S-[2-(fluoromethoxy)-1,3,3,3-tetrafluoro-1-propenyl]-N-acetyl-L-cyst eine, 2-(fluoromethoxy)-3,3,3-trifluoropropanoic acid, 3,3,3-trifluorolactic acid, and inorganic fluoride. The presence of 2-(fluoromethoxy)-3,3,3-trifluoropropanoic acid and 3,3,3-trifluorolactic acid in human urine was confirmed by gas chromatography-mass spectrometry.     

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy

The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8 cM interval on chromosome 17p12-p13. The retinal- specific guanylate cyclase gene (RETGC-1), which maps to within this genetic interval and previously was implicated in Leber's congenital amaurosis, was screened for mutations within this family and in a panel of small families and individuals with various cone and cone- rod dystrophy phenotypes. A missense mutation (E837D) was identified in affected members of the CORD6 family, as well as a second missense mutation (R838C) in three other families with dominant cone-rod dystrophy. RETGC-1 is only the fourth gene to be implicated in cone-rod dystrophy and this is the first report of dominant mutations in this gene.      

Isolation and characterization of human and rabbit sperm tail fibrous sheath

Using mechanical and chemical dissection methods, fibrous sheath was isolated both from normal ejaculated human spermatozoa and from rabbit cauda epididymal spermatozoa. The same techniques did not produce a pure preparation of fibrous sheath from ejaculated rabbit spermatozoa, suggesting that further cross-linking and stabilization of sperm structures occurs in response to components of the seminal plasma. The isolation procedures were monitored by phase contrast microscopy and the purity of the fibrous sheath was verified by electron microscopy. Sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) of isolated human fibrous sheath revealed at least 14 protein bands of which the most intensely stained were of molecular weight 84, 72, 66.2, 57, 32 and 28.5 kDa. The rabbit fibrous sheath revealed at least 10 protein bands, of which the most intensely stained were 35.2, 32.7 and 28.5 kDa. The amino acid composition of the purified fibrous sheath from human and rabbit spermatozoa was similar, being high in aspartic acid and/or asparagine and glutamic acid and/or glutamine, serine, alanine, leucine, lysine and glycine, but low in histidine, tyrosine and isoleucine. This composition is similar to that reported for the rat and suggests that mammalian sperm tail fibrous sheaths are composed of similar types of proteins, although there are apparent differences in protein components between species.