Practical guide to the diagnosis of thalassemia

Thalassemias occur in individuals of all ethnic backgrounds and are among the most common genetic diseases worldwide. The diagnosis of thalassemia can easily be part of primary medical practice. Here we outline a practical approach to the detection of thalassemias in three common clinical settings. The first involves any patient with a low mean corpuscular volume (MCV) with or without anemia. The second is a neonatal screening result indicating possible presence of thalassemia. Finally, evaluation for thalassemia should be considered in the context of family planning or pregnancy in patients whose ethnicity indicates origin from high risk geographic areas. We also review the various types of the thalassemia syndromes and provide an overview of general therapeutic considerations. © 1996 Wiley-Liss, Inc.     

Perceived availability of different types of social support among cynically hostile women

One hundred and ninety six young women completed the Cook-Medley Hostility (Ho) scale and a measure of the perceived availability of social support. Results of partial correlations that adjusted for the confounding effects of neuroticism showed total hostility was most strongly associated with appraisal support (r = −.40, p < .001) and most weakly associated with appraisal support (r = −.19, p < .01). These findings help contribute to a more precise understanding of the specific nature of the support deficits experienced by high hostile women. In addition, other findings suggest that different aspects of the Ho scale are differentially related to social support. Specifically, deficiencies in the perceived availability of support appear to be most strongly linked to cynicism. © 1996 John Wiley & Sons, Inc.     

5-Azacytidine-induced 6-thioguanine resistance at the gpt locus in AS52 cells: Cellular response

Treatment of AS52 cells with 5-azacytidine resulted in an induction of 6-thioguanine-resistant (6TG′) colonies, which reached a maximum by an expression time of 9 days. Dose responses for both cytotoxicity and mutation induction were determined following treatment with 5-azacytidine. At 20 μM treatment, 5-azacytidine exposure resulted in about 50% survival. Mutant frequency reached a maximum at 10 μM. At concentrations between 10 and 20 μM, 5-azacytidine was a potent mutagen but did not exhibit a dose response. Although many compounds both induce cell death and affect the growth rate of cells, 5-azacytidine specifically induced cell death and did not affect the doubling time of the surviving treated cell population. © 1996 Wiley-Liss, Inc.     

Mutational specificity: Spectrum of mutations in kidney,stomach, and liver from lacl transgenic mice recovered after treatment with tris(2,3-dibromopropyl)phosphate

The flame retardant tris(2,3-dibromopropyl)phosphate (TDBP), once used in cotton sleepware for children, is presently banned from commerce. It produces tumors in rodents in both a sex- and tissue-specific manner. The kidney is the main target for tumor formation in male and female rats, as well as in male mice. In contrast, tumors are formed in the liver of female animals. We have used lacl transgenic male B6C3F1 mice (Big Blue®) to examine the induction of mutation in kidney, liver, and stomach after exposure to 150 mg/kg (2 days), 300 mg/kg (4 days), and 600 mg/kg (4 days of TDBP. At the highest dose, the mutant frequency was approximately 50% above control values in the kidney (P < 0.01). A smaller increase was observed in the liver (P = 0.07), while no increase was seen in the stomach (P = 0.28). Sequence analysis of the recovered mutants showed a TDBP-specific change in mutation spectrum in kidney, which was not observed in liver and stomach. In kidney, a dose-dependent decrease in G:C → A:T transitions, including at 5′-CpG-3′ sites, was observed. This was accompanied by an increase in the loss of single G:C base pairs from approximately 3% to 15%. These results illustrate both the sensitivity and specificity of the lacl transgenic system in the analysis of tissue-specific mutation. This study also reinforces the importance of examining mutational spectra when mutant induction levels are low. © 1996 Wiley-Liss, Inc.     

Influence of postischemic administration of oxyradical antagonists on ischemic injury to rabbit skeletal muscle

The aim of this study was to determine whether the administration of free radical antagonists, immediately before and during the early minutes of reperfusion, improves muscle survival 24 hr after a period of ischemia. Rabbit rectus femoris muscles were isolated, made ischemic for 3½ hr and treated with either desferrioxamine (DFX), an Fe³⁺ chelator, superoxide dismutase and catalase (SOD & CAT), which quench superoxide and hydrogen peroxide, or allopurinol, an inhibitor of xanthine oxidase (XO). After 24 hr reperfusion, muscle viability (±s.e.m.), measured by the nitro blue tetrazolium (NBT) vital staining technique, was 41.6 ± 11.3% for saline-treated ischemic controls, 30.6 ± 7.6% for DFX-treated, 46.7 ± 10.3% for SOD & CAT-treated, and 43.3 ± 9.5% for allopurinol-treated muscles. None of the treated groups differed significantly from the ischemic control group. Tissue myeloperoxidase, ATP and reduced glutathione levels, and plasma lactate dehydrogenase (LDH) and aspartate transaminase (AST) levels were increased by ischemia and reperfusion in all groups, but the changes did not differ between the treatment groups. Levels of XO in the rabbit muscle were determined and found to be very low in both normal and postischemic muscle. As XO is the target enzyme of allopurinol, its absence provides a basis for the lack of effect of this agent. However, it is not clear why DFX and SOD & CAT had no protective effect © 1997 Wiley-Liss, Inc MICROSURGERY 17:517–523 1996     

Absence of the lateral philtral ridges: A clue to the structural basis of the philtrum

This study compares philtral development in the normal fetus with philtral development in specimens lacking normal philtral landmarks. Distinct differences in the structure of the upper lip were discovered between the two groups using a histological comparison. A new mechanism for the structural basis of the philtrum is proposed on the basis of these differences. © 1996 Wiley-Liss, Inc.     

Methotrexate patient education: A quality improvement study

Objective . To determine patients' knowledge of the safe use and toxicity of methotrexate (MTX) and to define educational interventions implemented by a rheumatology nurse that improved patients' understanding of MTX therapy. Methods . One hundred eighty-three patients from a university-based rheumatology clinic who were taking MTX completed an initial knowledge questionnaire concerning the proper use and possible toxicity of MTX. Following completion, a nurse reviewed the correct answers with each patient and provided written information on MTX. One hundred thirty-eight of these patients completed a followup questionnaire at the next visit or by mail. The questionnaires were analyzed, and a total MTX knowledge score was calculated. Results . MTX knowledge improved significantly between questionnaires; mean total score (±SD) increased from 7.32 ± 3.99 to 10.23 ± 3.29 (P < 0.001). After accounting for a person's initial questionnaire score, the addition of a supplemental “MTX pocketcard” was associated with a higher score on the followup questionnaire (adjusted odds ratio [OR] = 2.37; 95% confidence interval [CI] 1.14, 4.95; P = 0.021). Patients over age 55 were 4 times more likely to have a poorer score compared with patients under age 45 (adjusted OR = 0.23; 95% CI 0.07, 0.73; P = 0.013). Conclusion . Knowledge of the toxicity and safe use of MTX was significantly improved by a patient education program utilizing a rheumatology nurse. Older individuals appear to be at higher risk for knowledge deficits. A supplemental MTX pocket-card proved to be a simple but beneficial addition to our MTX educational program.     

PSM-R: Revised optimism-pessimism scale for the MMPI-2 and MMPI

The Revised Optimism-Pessimism (PSM-R) scale was developed for use with either the MMPI-2 or the MMPI. The scale measures explanatory style on a continuum from optimistic to pessimistic by using 263 MMPI items of the original 298–item Optimism-Pessimism (PSM) scale. These 263 items are common to both the MMPI-2 and MMPI. PSM-R norms are based on a random sample of 1,408 normal adults who also were used for developing norms for the original PSM scale. Reliability estimates (.93 for men; 0.94 for women) indicate that the PSM-R scale is as accurate as the original PSM scale.