A case of pulmonary artery bypass surgery for a patient with isolated Takayasu pulmonary arteritis and a review of the literature.

A 45-year-old female was presented with progressive dyspnea and bilateral leg edema. Pulmonary angiography revealed total occlusion of the right pulmonary artery and significant stenosis of the left pulmonary artery. The inferior lobar artery as well as the segmental arteries were well patent. No pathology was detected elsewhere at the aorta and its branches. The diagnosis of chronic pulmonary arterial occlusion by isolated Takayasu arteritis was made because of the characteristic pattern of angiographic findings and the presence of unusual shunt formation from the coronary artery to the peripheral portion of the pulmonary artery, as well as a characteristic presentation of HLA typing in blood analysis, which strongly suggested the diagnosis of Takayasu arteritis. To restore the pulmonary blood flow, we employed reconstructive surgery by means of bypass procedure, using PTFE graft. Postoperatively there was marked improvement in cardiopulmonary function and the quality of life of the patient. The graft was proved to be patent at long-term follow-up study. An extremely rare case of chronic occlusive pulmonary arteritis, which was surgically treated by means of bypass procedure, is reported herein, and a brief review of previous reports on this subject was attempted.     

Distribution of thymic tissue in the mediastinal adipose tissue.

The distribution of thymic tissue in the anterior mediastinal, retrocarinal, and preaortic fat was examined histologically in 27 autopsy subjects. Thymic tissue was found in the anterior mediastinal fat in 12 subjects (44.4%), in the retrocarinal fat in two (7.4%), and in the preaortic fat in none. The finding of ectopic thymic tissue in these areas has not been reported previously, would appear to be surgically inaccessible via a median sternotomy, and may be responsible in part for some of the failures of thymectomy in the treatment of myasthenia gravis.     

Ethical Issues in Psychotherapy

Abstract: The goal of psychotherapy is not only the dissolution of the symptoms, but also to attempt to bring about an improvement in adaptability and deepening the achievement of self-understanding. The nature of psychotherapy is based on the relationship between the therapist and patient. Such a goal and nature mean that some kinds of psychotherapy are beyond the medical model. In this paper ethical issues in psychotherapy are discussed as follows. 1) some complicated matters in informed-consent, 2) the hit or miss techniques of the poorly trained therapist, 3) the protection of privacy, 4) the sexual misconduct of therapists with patients, 5) special consideration for child-adolescent patients.     

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34.1. ASS functions as a rate-limiting enzyme in the urea cycle. Previously, we identified 32 mutations in the ASS gene of CTLN1 patients mainly in Japan and the United States, and to date 34 different mutations have been described in 50 families worldwide. In the present study, we report ASS mutations detected in 35 additional CTLN1 families from 11 countries. By analyzing the entire coding sequence and the intron-exon boundaries of the ASS gene using RT-PCR and/or genomic DNA-PCR, we have identified 16 novel mutations (two different 1-bp deletions, a 67-bp insertion, and 13 missense) and have detected 12 known mutations. Altogether, 50 different mutations (seven deletion, three splice site, one duplication, two nonsense, and 37 missense) in 85 CTLN1 families were identified. On the basis of primary sequence comparisons with the crystal structure of E. coli ASS protein, it may be concluded that any of the 37 missense mutations found at 30 different positions led to structural and functional impairments of the human ASS protein. It has been found that three mutations are particularly frequent: IVS6-2A>G in 23 families (Japan: 20 and Korea: three), G390R in 18 families (Turkey: six, U.S.: five, Spain: three, Israel: one, Austria: one, Canada: one, and Bolivia: one), and R304W in 10 families (Japan: nine and Turkey: one). Most mutations of the ASS gene are "private" and are distributed throughout the gene, except for exons 5 and 12-14. It seems that the clinical course of the patients with truncated mutations or the G390R mutation is early-onset/severe. The phenotype of the patients with certain missense mutations (G362V or W179R) is more late-onset/mild. Eight patients with R86H, A118T, R265H, or K310R mutations were adult/late-onset and four of them showed severe symptoms during pregnancy or postpartum. However, it is still difficult to prove the genotype-phenotype correlation, because many patients were compound heterozygotes (with two different mutations), lived in different environments at the time of diagnosis, and/or had several treatment regimes or various knowledge of the disease.     

Laboratory testing for rheumatic diseases]

The diagnosis of rheumatic diseases is primarily based on clinical symptoms and laboratory findings. However, diagnosis of rheumatic disease is often difficult because of the variations even in the same disease. Routine laboratory tests are valuable in detecting renal dysfunctions. In this review, the important auto-antibodies and inflammatory markers associated with rheumatic diseases are described. Further, their utility as diagnostic and prognostic tools, including their specificity, sensitivity and practical applications, is discussed.     

Comparative chromosome mapping of sex-linked genes and identification of sex chromosomal rearrangements in the Japanese wrinkled frog (Rana rugosa, Ranidae) with ZW and XY sex chromosome systems

There are regional variations of sex chromosome morphologies in the Japanese wrinkled frog, Rana rugosa (2n = 26): heterogametic ZZ/ZW-type and XX/XY-type sex chromosomes, and two different types of homomorphic sex chromosomes. To search for homology between the ZW and XY sex chromosomes and the chromosome rearrangements that have occurred during sex chromosomal differentiation in R. rugosa, we performed chromosome mapping of sexual differentiation genes for R. rugosa by FISH. Three genes, AR, SF-1/Ad4BP and Sox3, were localized to both the ZW and XY chromosomes, and their locations were all different between the Z and W and between the X and Y. AR and SF-1/Ad4BP were located on the short arms of the W and X and the long arms of Z and Y, and Sox3 was mapped to the different locations on the long arms between the Z and W and between the X and Y, probably as a result of multiple rearrangements that occurred during the process of sex chromosome differentiation. However, the chromosomal locations of three genes were almost consistent between the Z and Y and between the W and X, indicating that the Z and Y chromosomes and the W and X chromosomes were respectively derived from the same origins. Dmrt1, which is located on avian sex chromosomes, was localized to autosomes in R. rugosa with both the ZW and XY sex chromosomes, suggesting that Dmrt1 might not be related to sex determination in this species.