Detection of a human chromosomal translocation t(8;9) in a baby with multiple malformations using two-color fluorescence in situ hybridization

A human chromosomal translocation t(8;9) was detected using two-color fluorescence in situ hybridization with probes capable of staining the entire lengths of each of these chromosomes. The chromosome 8 probe was labeled with biotin and detected with Texas red, while the chromosome 9 probe was labeled with AAF and detected with FITC . In normal metaphase spreads, two metaphases from the proband, two red, one green and one part red and part green derivative chromosome were seen. The bicolor chromosome corresponded to translocation of a chromosome 8 segment to the distal part of the q region of one chromosome 9, as originally indicated by banding analysis. In interphase nuclei of the proband, four domains with bright fluorescence were recognized in many nuclei. Two were red, one was green, and the fourth had portions of both colors, indicating the presence of the translocation.     

Ascorbic acid, HDL, and total plasma cholesterol in the elderly

The relationships between ascorbic acid (plasma and dietary) and plasma HDL cholesterol (HDL-C), total plasma cholesterol (T-C) and T-C:HDL-C ratio were examined in a population of 235 males and 445 females, age 60-98 years. Many known or suspected determinants of HDL-C and T-C, including age, sex, triceps skinfold thickness, fasting blood glucose, alcohol intake, and others, were considered as covariates due to their potential confounding or modifying effects on the relationships under study. The results show that plasma ascorbic acid is significantly (p less than 0.05) correlated with HDL-C (r = 0.09), T-C:HDL-C (r = 0.10), but not with T-C (r = 0.03). There is a strong age interaction with the largest effect of ascorbic acid in the youngest age group studied (60-69 years). The effects of dietary ascorbic acid are similar but slightly reduced in magnitude.     

First international intercomparison of luminescence techniques using samples from the Techa River Valley.

Bricks collected from a contaminated village (Muslyumovo) of the lower Techa river valley, Southern Urals, Russia, were measured using thermoluminescence and optically stimulated luminescence by four European laboratories and a U.S. laboratory to establish and compare the applied dose reconstruction methodologies. The bricks, collected from 60-100-year-old buildings, had accumulated a relatively high dose due to natural sources of radiation in the brick and from the surrounding environment. This work represents the results of a first international intercomparison of luminescence measurements for bricks from the Southern Urals. The luminescence measurements of absorbed dose in bricks collected from the most shielded locations of the same buildings were used to determine the background dose due to natural sources of radiation and to validate the age of the bricks. The absorbed dose in different bricks measured by four laboratories using thermoluminescence and optically stimulated luminescence at a depth of 10 +/- 2.5 mm from the exposed brick surface agreed within +/-21%. After subtraction of the natural background dose, the absorbed dose in brick due to contaminated river sediments and banks was calculated and found to range between 150 and 200 mGy. The cumulative doses in brick due to man-made sources of radiation at 100 and 130 mm depths in the bricks were also measured and found to be consistent with depth dose profiles calculated by Monte Carlo simulations of photon transport for possible source distributions.     

Reoperations with the Right Gastroepiploic Artery without Cardiopulmonary Bypass

A bstract The right gastroepiploic artery (RGEA) has been utilized as the bypass conduit on the inferior surface of the heart with a minimally invasive approach. Fourteen patients had reoperative coronary bypass surgery for severely symptomatic single-vessel disease of the right coronary artery. All surgeries were performed since May 1996. A small mid-line incision including splitting of the lower sternum gave excellent exposure. The inferior surface of the heart was dissected to expose and stabilize the target vessel. The heart rate was controlled with a diltiazem drip. Cardiopulmonary bypass was not necessary in any case. The right coronary artery was bypassed in three patients, the posterior descending artery branch in ten patients, and the terminal circumflex of the left coronary artery in one. After grafting, patency of the anastomosis was demonstrated by Doppler echocardiogram. Two patients had left anterior descending artery (LAD) grafts with LIMA (left mammary artery) and RGEA grafts performed simultaneously with two port access incisions. No patient had perioperative mortality or complications. No patient had recurrent angina. Doppler color echocardiographic imaging studies before discharge confirmed patency of the graft in 13 of 14 cases. In one case, the gastroepiploic artery could not be visualized. Angiographic visualization was positive in seven cases; seven patients were not studied yet. The gastroepiploic artery is an excellent conduit for vascularization of the inferior aspect of the heart. The operation can be done with a minimally invasive technique and without the use of cardiopulmonary bypass. This approach seems especially applicable in selective reoperative cases.     

Translational crossroads for biomarkers.

A group of investigators met at a Specialized Programs of Research Excellence Workshop to discuss key issues in the translation of biomarker discovery to the development of useful laboratory tests for cancer care. Development and approval of several new markers and technologies have provided informative examples that include more specific markers for prostate cancer, more sensitive tests for ovarian cancer, more objective analysis of tissue architecture and an earlier indication of response to treatment in breast cancer. Although there is no clear paradigm for biomarker development, several principles are clear. Marker development should be driven by clinical needs, including early cancer detection, accurate pretreatment staging, and prediction of response to treatment, as well as monitoring disease progression and response to therapy. Development of a national repository that uses carefully preserved, well-annotated tissue specimens will facilitate new marker development. Reference standards will be an essential component of this process. Both hospital-based and commercial laboratories can play a role in developing biomarkers from discovery to test validation. Partnering of academe and industry should occur throughout the process of biomarker development. The National Cancer Institute is in a unique position to bring together academe, industry, and the Food and Drug Administration to (a) define clinical needs for biomarkers by tumor type, (b) establish analytic and clinical paradigms for biomarker development, (c) discuss ways in which markers from different companies might be evaluated in combination, (d) establish computational methods to combine data from multiple biomarkers, (e) share information regarding promising markers developed in National Cancer Institute-supported programs, and (f) exchange data regarding new platforms and techniques that can accelerate marker development.     

Neuropathology and Molecular Studies of a Patient with Tourette Syndrome and Huntington Disease

This paper reviews the association of Huntington's Disease (HD) and tic disorder or Tourette Syndrome (TS) We also present the results of a follow-up study of a male with childhood-onset TS and adult-onset HD who died at 45 years of age. The developmental course and results of neuropathologic and molecular studies of this patient are reported. This is the first case of childhood onset of TS with adult onset of HD reported who has come to autopsy. A developmental model for childhood and adult neuropsychiatric disorders is presented.