Speciation in the baboon and its relation to gamma-chain heterogeneity and to the response to induction of HbF by 5-azacytidine

In the baboon (Papio species), the two nonallelic gamma-genes produce gamma-chains that differ at a minimum at residue 75, where isoleucine (I gamma-chain) or valine (V gamma) may be present. This situation obtains in baboons that are sometimes designated as Papio anubis, Papio hamadryas, and Papio papio. However, in Papio cynocephalus, although the I gamma-chains are identical with those in the above mentioned types, the V gamma-chains have the substitutions ala----gly at residue 9 and ala----val at residue 23. The V gamma-chains of P. cynocephalus are called V gamma C to distinguish them from the V gamma A-chains of P. anubis, etc. A single cynocephalus animal has been found to have only normal I gamma-chains and I gamma C-chains (that is, glycine in residue 9, valine in 23, and isoleucine in 75). When HbF is produced in response to stress with 5-azacytidine, P. anubis baboons respond with greater production than do P. cynocephalus, and hybrids fall between. Minimal data on P. hamadryas and P. papio suggest an even lower response than P. cynocephalus. As HbF increases under stress, the ratio of I gamma to V gamma-chains changes from the value in the adult or juvenile baboon toward the ratio in the newborn baboon. However, it does not attain the newborn value. The V gamma A and V gamma C-genes respond differently to stress. In hybrids, the production of V gamma A- chains exceeds that of V gamma C-chains. A controlling factor in cis apparently is present and may be responsible for the species-related extent of total HbF production. It may be concluded that the more primitive the cell in the erythroid maturation series that has been subjected to 5-azacytidine, the more active is the I gamma-gene.     

Optimizing conventional MR imaging of the spine

With the use of conventional spin-echo pulse sequences with a long repetition time (TR), the echo time (TE) and the number of echoes were varied to minimize cerebrospinal fluid (CSF) flow artifacts in a spine phantom and in cervical spines of three volunteers. The following echo trains were compared in both axial and sagittal planes with a TR of 2,000 msec: TE of 25, 80 msec ("asymmetric"); TE of 40, 80 msec ("symmetric long TE"); and TE of 20, 40, 60, and 80 msec ("symmetric short TE"). Variable degrees of even-echo rephasing of CSF flow artifacts were observed during sagittal but not axial imaging, depending on the echo train used. Even-echo rephasing was most complete with the symmetric short-TE echo train, less complete with the symmetric long-TE echo train, and absent with the asymmetric echo train. Switching the orientation of the phase and frequency encoding gradients and slightly modifying TR on the basis of the heart rate further improved image quality. The results suggest that a symmetric short-TE echo train may be used to provide velocity compensation (similar to that observed with rephasing gradients) on even echoes of conventional spin-echo pulse sequences during spine imaging.     

Angelchik prosthesis with oesophageal adenocarcinoma: our surgical approach

The Angelchik prosthesis is an incomplete doughnut-shaped device composed of silicone elastomer used in the treatment of gastro-oesophageal reflux disease (GORD). It is used to encircle the lower oesophagus at the gastro-oesophageal junction (GOJ). The ease of the operation led to the insertion of over 25,000 such prostheses world-wide. However, a variety of major complications including intractable dysphagia, prosthesis migration and gastric erosion required a quarter of these devices to be removed. Development of adenocarcinoma in patients with Angelchik prosthesis is a rare occurrence. This article describes two patients who developed adenocarcinoma above their prosthesis and whose cardio-oesophagectomy was technically challenging due to the formation of a dense inflammatory capsule around the prosthesis. Our surgical approach to curative oesophageal resection with the Angelchik prosthesis in situ is also discussed.     

Alpha zero-thalassemia due to recombination between the alpha 1-globin gene and an AluI repeat

A form of alpha zero-thalassemia found in subjects of Mediterranean origin has been analyzed by gene mapping and DNA sequencing. Homozygotes have the hemoglobin Bart's hydrops fetalis syndrome, while compound heterozygotes for this defect and alpha+-thalassemia have hemoglobin H disease. It results from a deletion that removes 20.5 kilobases of DNA from within the alpha-globin gene cluster. Sequence data from the regions adjacent to the breakpoint indicate that the recombination event that caused this deletion occurred between the alpha 1-gene and an unusual AluI sequence located between the embryonic zeta genes.     

An evaluation of a patient-reported outcomes found computerized adaptive testing was efficient in assessing osteoarthritis impact

BACKGROUND AND OBJECTIVES: Evaluate a patient-reported outcomes questionnaire that uses computerized adaptive testing (CAT) to measure the impact of osteoarthritis (OA) on functioning and well-being. MATERIALS AND METHODS: OA patients completed 37 questions about the impact of OA on physical, social and role functioning, emotional well-being, and vitality. Questionnaire responses were calibrated and scored using item response theory, and two scores were estimated: a Total-OA score based on patients' responses to all 37 questions, and a simulated CAT-OA score where the computer selected and scored the five most informative questions for each patient. Agreement between Total-OA and CAT-OA scores was assessed using correlations. Discriminant validity of Total-OA and CAT-OA scores was assessed with analysis of variance. Criterion measures included OA pain and severity, patient global assessment, and missed work days. RESULTS: Simulated CAT-OA and Total-OA scores correlated highly (r = 0.96). Both Total-OA and simulated CAT-OA scores discriminated significantly between patients differing on the criterion measures. F-statistics across criterion measures ranged from 39.0 (P < .001) to 225.1 (P < .001) for the Total-OA score, and from 40.5 (P < .001) to 221.5 (P < .001) for the simulated CAT-OA score. CONCLUSIONS: CAT methods produce valid and precise estimates of the impact of OA on functioning and well-being with significant reduction in response burden.