Congenital nystagmus--genetic and environmental causes.

A survey of 40 individuals registered with the Canadian National Institute for the Blind (CNIB) as blind from congenital nystagmus revealed that an abnormal single gene was responsible for the disorder in 33 patients. Fifteen of these were due to autosomal recessive conditions while X-linked disorders accounted for another 15 patients. In 3 cases the pedigrees were consistent with both autosomal recessive or X-linked inheritance. A clearly defined environmental origin was present in 1 case while specific genetic or environmental factors were not detected in the remaining six patients. The albinism, achromatopsia and Leber's congenital amaurosis groups of disorders were those most frequently detected.     

Muscle Function,Body Composition,Insulin Sensitivity and Physical Activity in Adolescents Born Preterm: Impact of Gestation and Vitamin D Status

Whilst several studies have explored adolescent metabolic and cognitive function after preterm birth, few have explored muscle function and physical activity. We set out to examine the relationship between gestational age and muscle metabolism in a cohort of adolescents who were born preterm. Participants were recruited from the Newcastle preterm birth growth study cohort. They did not have severe neurological disease and were not on daily medication. Participants underwent an assessment of oxidative muscle function using phosphorus magnetic resonance spectroscopy that included the half-time for recovery of equilibrium of phosphocreatine, τ_½PCr. In addition, we measured key variables that might affect muscle function including physical activity levels determined by 3-day accelerometry, body composition using air displacement plethysmography, insulin sensitivity using the homeostatic model assessment/Matsuda index and serum vitamin D concentrations. 60 adolescents (35F) median age 15.6 years (range 12.1–18.8) with a median gestation of 31 weeks (range 24 to 34 weeks) underwent a single assessment. Males were more active and spent less time in sedentary mode. Time spent in light activity was associated with insulin sensitivity (IS) (Matsuda Index; p < 0.05) but there were no strong correlations between activity levels and gestational age. Greater fat mass, waist circumference and body mass index were all associated with lower IS. Gestational age was negatively associated with adjusted measures of oxidative muscle function (τ_½PCr). In a stepwise multivariate linear regression model, gestational age at birth was the most significant predictor of oxidative muscle function (p = 0.005). Higher serum vitamin D levels were also associated with faster phosphocreatine recovery time (p = 0.045). Oxidative function in the skeletal muscle of adolescents born preterm is associated with gestational age and vitamin D concentrations. Our study suggests that being born preterm may have a long-term impact on muscle metabolism.     

Highlights from the Tenth World Conference on Lung Cancer

Should adjuvant chemotherapy for resected non-small cell lung cancer (NSCLC) be the standard of care? That question has been much debated since the presentation of results from the International Adjuvant Lung Cancer Trial (IALT) in May 2003 at the plenary session of the American Society of Clinical Oncology annual meeting. The IALT study showed a statistically significant survival advantage for patients treated with cisplatin-based adjuvant chemotherapy. The topic of adjuvant chemotherapy permeated the Tenth World Conference on Lung Cancer held from August 10-14, 2003 in Vancouver, Canada. Updated results of the IALT study were presented along with results from the Big Lung Trial from the United Kingdom and the Adjuvant Lung Project Italy trial, neither of which showed a significant survival benefit for adjuvant chemotherapy. How to put the IALT data into practice remains controversial, and leading lung cancer experts have not reached a consensus. Platinum-based doublets that include a taxane, vinorelbine, or gemcitabine remain the standard of care for the first-line treatment of metastatic NSCLC. However, there may soon be a new option for second-line treatment. A randomized study of pemetrexed in the second-line setting found efficacy similar to that of docetaxel given every 3 weeks, with less toxicity. Gefitinib was recently approved by the U.S. Food and Drug Administration for the treatment of advanced NSCLC following platinum-based chemotherapy and docetaxel. However, concerns have arisen about toxicity due to reports of interstitial pneumonitis from Japan. The observed incidence of interstitial pneumonitis from the data available to date is approximately 1%. Which patients derive the most benefit from gefitinib? It appears that lifetime nonsmokers and patients with bronchioloalveolar histology have the highest probability of disease response.     

STUDIES BASED ON A MALIGNANT TUMOR OF THE RABBIT : VI. VARIATIONS IN GROWTH AND MALIGNANCY OF TRANSPLANTED TUMORS. PART 2. FACTORS INFLUENCING THE RESULTS OF SERIAL TRANSPLANTATION.

The results of transplantation, as recorded in the first section of the paper, are analyzed from the standpoint of the influence of the factors of serial passage, the material used for inoculation, the age and breed of the animals, and the time or season at which the experiments were carried out. The material used for the inoculation of different groups of animals appeared to have comparatively little effect on the ultimate results. The character of the animals used was found to be a factor of more importance in that the tumor displayed definite peculiarities of growth and malignancy referable to age and to breed or color markings. Still, it seemed unlikely that any of these factors would account for the variations in growth and malignancy that had been observed. After considering the various possibilities presented, it appeared that the principal factors concerned in determining the results of transplantation were adaptation to passage and variations in the conditions of season and weather that prevailed during the time the experiments were being carried out—the one affecting the energy of cell growth and the other affecting animal economy.