Atypical Ph negative chronic myeloid leukaemia presenting as sudden profound deafness.

A patient with atypical Ph negative chronic myeloid leukaemia presented with the sudden onset of profound deafness. He survived only eight months. Detailed histological investigation performed at necropsy showed loss of ganglion cells and afferent nerve fibres in the cochlea and vestibule associated with extensive fibrosis and new bone formation in the labyrinthine spaces. Both leucophoresis and high dose chemotherapy capable of rapid cytoreduction are recommended in patients with chronic myeloid leukaemia with profound hearing loss, as conventional chemotherapy is rarely followed by recovery.     

Cortisol excretion in high and low cynically hostile men

Cynical hostility as measured by the Cook and Medley Hostility (Ho) Scale has been found in some studies to be associated with increased risk of life-threatening illness. Previous laboratory studies of cardiovascular reactivity have been consistent with the general hypothesis that increased physiological responsiveness is one possible mechanism underlying the association between hostility and health. The present study extended this previous research by evaluating urinary cortisol excretion during routine daily activities in a sample of high and low cynically hostile young men. Although high and low Ho groups did not differ in their cortisol excretion upon awakening, the high Ho group displayed more than twice the increase in cortisol excretion during daytime hours as that occurring among low hostile men. This difference dissipated during the evening hours. Results are discussed in terms of possible physiological mechanisms linking hostility and health.     

Pattern of breast cancer among white-American, African-American, and nonimmigrant west-African women.

This study reviews the current understanding of the pattern of breast cancer among whites, African Americans, and West Africans who have never immigrated to the US to find better ways of improving the prevention, early detection, and care of breast cancer world-wide. In the United States, the behavior pattern of breast cancer in African-American women differs from that of white women. Among the three populations, breast cancer appears to be least common in nonimmigrant West-African women. The peak incidence in African Americans and West Africans occurs around the premenopausal period while it occurs postmenopausal period in whites. Also, unlike white women, West-African and African-American women present late for treatment with a greater cancer burden and consequently lower survival rates. The predominant histological type is infiltrating ductal carcinoma in the three groups but the highest percentage (33%) of infiltrating poorly differentiated anaplastic carcinoma occurs in West Africans. Menstrual and obstetric history, obesity, and high body mass index status appear to be greater specific risk factors among African Americans than among West Africans. African Americans and West Africans have three "Ls" in common: late stage in seeking treatment, lower age at peak incidence with severe tumor burden, and consequently lower survival rates. There is a need for more detailed population-based research at molecular levels to elucidate the basis for some of these features.     

Detection of clonal immunoglobulin gene rearrangements in the peripheral blood progenitor cells of patients with multiple myeloma: the potential role of purging with CD34 positive selection

Aims—To determine the extent of clonal cell contamination of peripheral blood progenitor cell (PBPC) collections in patients with multiple myeloma (MM) and to assess the purging efficacy of CD34 positive selection.     

Empirical evaluation of the transfusion medicine tutor

Previous research during the development of Antibody IDentification Assistant (AIDA) revealed that many medical technology students and other laboratory personnel have serious difficulties in determining the specificity of blood group alloantibodies, especially weak or multiple antibodies. Based on these previous results, AIDA was modified to provide a teaching environment for medical technology students. We report the results of a rigorous, objective evaluation of the resultant system, the Transfusion Medicine Tutor (TMT). The results show that the students who were taught by an instructor using TMT to provide the instructional environment went from 0 percent correct on a pretest case to 87 percent correct on posttests (n = 15). This increase compares with an improvement rate of 20 percent by a control group (n = 15) who used a passive version of the system with the tutoring functions turned off.     

Small for gestational age associated with short stature during adolescence

This study examined the relationship between intrauterine growth retardation and adolescent stature in a sample of 1510 White subjects (754 males and 756 females) who were evaluated at birth and at the ages of 15, 16, and 17 years. The subjects were classified into two groups based on birthweight, small for gestational age (SGA) and appropriate for gestational age (AGA), corresponding respectively to values below the 10th, and between the 11th and 99th, percentiles of gestational age and sex. Results showed that boys and girls born prematurely (gestational age < 37 weeks of gestation) attained the same stature as those born at full term (>37 weeks of gestation). In contrast, those born SGA were significantly shorter than their counterparts born AGA. The average reduction in stature was 4.9 cm for males and 2.9 cm for females. When the analysis included adjustments for parental stature (and adolescent's age at menarche for females), the average reduction in stature equaled about 3.5 cm for males and 2.0 cm for females. It is thus concluded that the stature deficit reflects a reduction in growth rate rather than delay in maturation. © 1994 Wiley-Liss, Inc.     

A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing

Introduction: Mutation testing for the MEN1 gene is a useful method to diagnose and predict individuals who either have or will develop multiple endocrine neoplasia type 1 (MEN 1). Clinical selection criteria to identify patients who should be tested are needed, as mutation analysis is costly and time consuming. This study is a report of an Australian national mutation testing service for the MEN1 gene from referred patients with classical MEN 1 and various MEN 1-like conditions. Results: All 55 MEN1 mutation positive patients had a family history of hyperparathyroidism, had hyperparathyroidism with one other MEN1 related tumour, or had hyperparathyroidism with multiglandular hyperplasia at a young age. We found 42 separate mutations and six recurring mutations from unrelated families, and evidence for a founder effect in five families with the same mutation. Discussion: Our results indicate that mutations in genes other than MEN1 may cause familial isolated hyperparathyroidism and familial isolated pituitary tumours. Conclusions: We therefore suggest that routine germline MEN1 mutation testing of all cases of "classical" MEN1, familial hyperparathyroidism, and sporadic hyperparathyroidism with one other MEN1 related condition is justified by national testing services. We do not recommend routine sequencing of the promoter region between nucleotides 1234 and 1758 (Genbank accession no. {"type":"entrez-nucleotide","attrs":{"text":"U93237","term_id":"1945388","term_text":"U93237"}}U93237) as we could not detect any sequence variations within this region in any familial or sporadic cases of MEN1 related conditions lacking a MEN1 mutation. We also suggest that testing be considered for patients <30 years old with sporadic hyperparathyroidism and multigland hyperplasia.     

Vero cytotoxin-producing strains of Escherichia coli from children with haemolytic uraemic syndrome and their detection by specific DNA probes

Faecal specimens from 66 children with haemolytic uraemic syndrome in the United Kingdom were examined for strains of Escherichia coli producing Vero cytotoxin (VT). Initially, conventional bacteriological methods were used to identify colonies of E. coli which were then tested for VT production. Subsequently, specific DNA probes for VT1 and VT2 were used in hybridisation tests to detect VT-producing E. coli (VTEC). VTEC strains were isolated from 19 cases and in 15 they belonged to serogroup O157. Fourteen of these O157 strains possessed the flagellar antigen H7 and one was non-motile. The VTEC strains from the remaining four cases belonged to serotypes O26:H11, O104:H2, O153:H25, and O163:H19 together with a rough VT+ strain with flagellar antigen H51. The O157 strains hybridised with either the VT2 probe or both VT1 and VT2 probes. The other VTEC strains hybridised with either the VT1 or VT2 probe. Confirmation of the production of VT1 and VT2 in vivo was obtained by the neutralisation of faecal VT with specific antisera raised against these two cytotoxins.