Neonatal phenotype in Kabuki syndrome

The Kabuki syndrome is a well-established pattern of human malformation with readily recognizable features, however the diagnosis is rarely made in the newborn period. The purpose of this study was to determine if there exists a neonatal phenotype for this disorder. We ascertained 16 infants evaluated in the first 28 days of life by a dysmorphologist who subsequently received the diagnosis of Kabuki syndrome. The average age of initial evaluation was 8 days and the average age of diagnosis was 2 years 6 months. Based on these findings, it is suggested that the distinctive clinical phenotype seen in older patients is also evident in the newborn period.     

Relation between raised concentrations of fucose, sialic acid, and acute phase proteins in serum from patients with cancer: choosing suitable serum glycoprotein markers.

Serum concentrations of fucose, sialic acid, and eight acute phase proteins were measured in single specimens from patients with cancer in order to determine whether the raised concentrations of protein bound sugars commonly found in cancer correlate with increased concentrations of the acute phase proteins. Strong positive correlations were found only with alpha 1-acid glycoprotein, alpha 1-antitrypsin, and haptoglobins. Changes in protein bound sugars and acute phase proteins were also examined in relation to patients' disease states. Serum fucose was raised more often in patients with advanced disease than in those in whom the spread of the tumour was more restricted; increased sialic acid concentrations, however, were found with a similar frequency in both these groups. Combined use of fucose and sialic acid values gave a high degree of marker positivity which could be only slightly improved on by including measurement of acute phase proteins. The combined use of serum fucose and sialic acid concentrations may have value in monitoring patients with cancer: the sialic acid provides an index of the acute phase response and the fucose a measure of the tumour spread.     

HLA antigens and Bf allotypes in SLE: evidence for the association being with specific haplotypes

The clinical features and HLA types of 67 unrelated patients with Systemic Lupus Erythematosus (SLE) were analyzed. The results showed:
1. An increase in frequencies of A1, B8, and DR3. These antigens are in close linkage disequilibrium and our data show that susceptibility to SLE is associated with the presence of all three antigens, implicating the specific haplotype which bears these antigens.
2. An increase in frequency of DR2, but not A3 or B7, these latter two antigens being in linkage disequilibrium with DR2.
3. 73.3% of the 54 Caucasoid SLE group were either B8 and/or DR2. This is in comparison with 37.5% in the controls and the difference is significant (p < 0.001).
4. There was no association apparent between extent of disease, particular organ involvement and level of circulating antibodies to double stranded DNA with any HLA region product.     

Shb null allele is inherited with a transmission ratio distortion and causes reduced viability in utero.

SHB is an Src homology 2 domain-containing adapter protein that has been found to be involved in numerous cellular responses. We have generated an Shb knockout mouse. No Shb-/- pups or embryos were obtained on the C57Bl6 background, indicating an early defect as a consequence of Shb- gene inactivation on this genetic background. Breeding heterozygotes for Shb gene inactivation (Shb+/-) on a mixed genetic background (FVB/C57Bl6/129Sv) reveals a distorted transmission ratio of the null allele with reduced numbers of Shb+/+ and Shb-/- animals, but increased number of Shb+/- animals. The Shb- allele is associated with various forms of malformations, explaining the relative reduction in the number of Shb-/- offspring. Shb-/- animals that were born were viable, fertile, and showed no obvious defects. However, Shb+/- female mice ovulated preferentially Shb- oocytes explaining the reduced frequency of Shb+/+ mice. Our study suggests a role of SHB during reproduction and development.     

Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1→q24 in different offspring

The use of elongated prophase and prometaphase chromosome preparations has allowed detection of an insertion of a small segment of 3q into 11q in a kindred with 4 balanced carriers and 8 unbalanced offspring. Those with partial 3q deletion have a true multiple congenital anomalies/mental retardation (MCA/MR) syndrome with an appearance suggestive of the Schwartz-Jampel syndrome.     

Can Autonomy and Equity Coexist in the ICU?

Cohen reviews two collections of essays on ethical issues in critical care medicine: Ethics and Critical Care Medicine, edited by John C. Moskop and Loretta Kopelman (D. Reidel; 1985), and "Ethical Moments in Critical Care Medicine," a symposium issue of Critical Care Clinics, edited by James P. Orlowski and George A. Kanoti (1986 Jan; 2(7): 189 p.). Some of the topics discussed by the contributors include physician beneficence vs. patient autonomy in critical care decision making; the pressures created by the "rescue ethos" of the critical care setting; the selection of patients for admission to intensive care; the equitable distribution of critical care resources; and the increasing need to factor costs into treatment decisions. E. Cassell, E.D. Pellegrino, J. Katz, D. Walton and N. Donen, J. Moskop, J. Perrin, H.T. Engelhardt, R. Veatch, J. Paris and F. Reardon, S. Youngner, and S. Imbus and B. Zawacki are among the essayists.     

Prevalence of Masturbation and Associated Factors Among Older Adults in Four European Countries

Solitary sexual activity is a free, safe, and accessible way to experience sexual pleasure. Despite these advantages, research on masturbation in later life is highly understudied. Using data from a cross-sectional probability-based survey of 3816 European adults (mean age 67 years; range 60–75 years), we explored several sociodemographic, health, attitudinal, and sexual behavioral factors associated with reported masturbation frequency. Across all countries, between 41% and 65% of men and 27% and 40% of women reported any masturbation in the preceding month. Satisfaction with sexual activity and attitudes related to disapproval of sex without love were significant predictors of reported masturbation in almost all countries and in both genders. Age, education, self-perceived health, and depression were for the most part predictive of men’s reported masturbation, but not women’s. Generally, those believing sex is beneficial to older people were more likely to masturbate, while less permissive attitudes decreased the likelihood of reporting masturbation. To improve healthy sexual aging, misinformation about masturbation and sexual attitudes in older people need to be addressed.