Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient

The clinical and cytogenetic data of the first patient proven to belong to the fifth Fanconi anemia complementation group are described. The Turkish boy presented with psychomotoric retardation, growth retardation, retarded bone age, brachycephaly, hypotelorism, epicanthus, syndactyly, brachydactyly, renal dystopia, and cryptorchism. In addition, an asymmetrical skeletal anomaly was seen with a double distal phalanx of the left thumb and hypoplasia of the right thumb. Typical hematological features of the disorder developed, at the age of 2.5 years, about 1 year after diagnosis. Cytogenetic studies confirmed the clinical diagnosis and revealed a spontaneous chromosomal instability and hypersensitivity to the cross-linking agents diepoxybutane and Trenimon. The findings in the patient, who is considered to be the standard for the fifth Fanconi anemia complementation group, are compared with data reported for other patients affected with Fanconi anemia.     

The impact of health policy on chiropractic

BACKGROUND: The presence of a genetic factor in the determination of leprosy has long been debated. This study tests whether the HLA-linked control of susceptibility to leprosy and/or for the types of leprosy could be confirmed. MATERIALS AND METHODS: In 15 multicase families, the method of DeVries et al., 1976, was used to detect nonrandom segregation of parental HLA haplotypes in their affected and healthy siblings. Linkage analyses, for two and three alleles were performed by the computer program LIPED: RESULTS: For the affected siblings, the segregations of the parental HLA haplotype were significantly nonrandom from the healthy parents and random from the affected parents, indicating that affected siblings were sharing their HLA haplotypes (segregated from the healthy parents) more than expected. The segregations to the healthy siblings from both the healthy and affected parents were random. Healthy siblings inherited the haplotypes shared among the leprosy siblings randomly as expected. There were excess DR2/DR2 homozygote individuals among tuberculoid siblings. The highest lod score was achieved when we considered our suggested three-alleles model for the susceptibility to the different types of leprosy. CONCLUSIONS: A closely HLA-linked gene on chromosome number 6 with multiple alleles (3 or more) in recombination fraction between 0.05 and 0.1 with 70 to 100% penetrance may be responsible for the susceptibility to the different types of leprosy, whereas the susceptibility to leprosy per se maybe the responsibility of non-HLA linked gene/s. DR2/DR2 homozygote individuals may be relatively at high risk of developing leprosy or tuberculoid leprosy.     

A new technique for on-line and off-line high speed computation

A novel technique for both online and offline computation is presented. With this technique, a reconstruction analysis in elementary particle physics, otherwise prohibitively long, has been accomplished. It will be used online in an upcoming Fermilab experiment to reconstruct more than 100000 events per second and to trigger on the basis of that information. The technique delivers 40 gigaoperations per second, has a bandwidth on the order of gigabytes per second, and has a modest cost. An overview of the program, details of the system, and performance measurements are presented     

Anesthesia practice and infectious diseases: meeting the challenges of a changing practice environment

The safety and pharmacokinetics of L-627, a new injectable carbapenem antibiotic, were evaluated in healthy volunteers. In single-dose studies, 20, 40, 80, 150, 300 and 600 mg of L-627 were administered by i.v. infusions over 1 hour. Plasma concentration-time profiles were well described with a two-compartment open model. The half-life of elimination from plasma was 1.3 +/- 0.8 (mean +/- SD) hour, and the Cmax and AUC paralleled the doses given. The mean urinary recovery of unchanged L-627 within the first 12 hours was 63.1 +/- 2.7% of the dose. In the multiple-dose studies, 300 mg of L-627 (i.v. over 1 hour) was administered every 12 hours, 11 times in total and 600 mg of L-627 was administered every 12 hours, 9 times in total. No discernible accumulation of the drug in plasma was observed. There were no subjective or objective abnormal findings definitely attributable to the drug except that one subject in one of the multiple-dose regimens (300 mg b.i.d.) showed only a slight elevation of transaminase value, although the elevated value promptly recovered after completion of dosing. No abnormality was observed in the other multiple-dose regimen (600 mg b.i.d.). From these results, L-627 was concluded to be safe and well tolerated.     

Comparison of magnetic resonance volume flow rates, angiography, and carotid Dopplers. Preliminary results

BACKGROUND AND PURPOSE: We compared the results of conventional angiography, carotid Doppler, and magnetic resonance angiography volume flow rates to determine the clinical utility of volume flow rate assessment of blood flow to the anterior circulation in patients with carotid occlusive disease. METHODS: From 11 symptomatic patients, a total of 22 extracranial carotid arteries were studied with all three techniques. The studies were independently read, and regression analysis was used to compare the measurements. RESULTS: Carotid Doppler measurements of the distal extracranial carotid arteries were proportional to the inverse of the extracranial carotid volume flow rate (r = .53, R2 = 29%, P < .01), volume flow rates were proportional to the inverse of measured percent stenosis on angiography (r = .84, R2 = 71%, P < .01), and Dopplers were proportional to angiography (r = .94, R2 = 90%, P < .01). Symptomatic Doppler systolic velocity was significantly higher (P < .002), symptomatic measured stenosis was significantly higher (P < .002), and symptomatic volume flow rate was significantly lower (P < .01) than their respective asymptomatic-side values. These preliminary observations, however, may well change once a large data set, especially one in which more patients with high-grade carotid stenosis are included, is studied. CONCLUSIONS: Assessment of carotid volume flow rates by magnetic resonance angiography quantifies flow reduction secondary to atherosclerotic occlusive disease. The easily obtained flow data add both documentation of arterial flow characteristics related to internal carotid stenosis and information regarding the adequacy of collateral pathways.     

Perfluorocarbons are effective oxygen carriers in cardiopulmonary bypass

Intravascular perfluorochemical (PFC) emulsions together with a high oxygen (O2) tension may increase the delivery of dissolved O2 to useful levels. A severely anemic model of cardiopulmonary bypass (CPB) was used to test the hypothesis that a novel PFC emulsion (PFCE; Oxygent [Alliance Pharmaceutical Corp., San Diego, CA] 90% w/v perflubron) used at a high PO2 during bypass delivers sufficient O2 to ameliorate hypoxic myocardial contractile dysfunction. Acutely anemic dogs (N = 42; hematocrit = 15.8 +/- 0.6% [mean +/- SEM] before CPB and 10.9 +/- 0.1% during CPB) were divided into four groups. Group 1 was a control (n = 12). As CPB was initiated, groups 2 (n = 10), 3 (n = 10), and 4 (n = 10) had 1.35 g PFC.kg-1, 2.7 g PFC.kg-1, or 5.4 g PFC.kg-1 added via the venous return cannula. Pre-CPB and post-CPB cardiac function was measured by the first derivative of left ventricular pressure (dP/dtmax). The dP/dtmax on separation from CPB was: group 1, 619 +/- 96; group 2, 738 +/- 56; group 3, 782 +/- 101; and group 4, 828 +/- 100 (p < 0.05 groups 3 and 4 versus group 1). Mortality during the first hour after separation from CPB was higher in group 1 than in PFCE treated dogs; however, this trend did not attain statistical significance (p < 0.065). The PFC dose was higher in survivors than in nonsurvivors (2.6 +/- 0.4 g PFC.kg-1 versus 1.2 +/- 0.5 g PFC.kg-1; p < 0.05). A PFCE used at a high PO2 provides sufficient physically dissolved O2 to relieve myocardial hypoxic injury in a severely anemic model of CPB. Current PFCEs are effective O2 carriers. This finding suggests that they can be used as a temporary erythrocyte substitute to diminish the need for allogeneic transfusions during cardiac operations.