Sickle cell disease in areas of immigration of high-risk populations: a low cost and reproducible method of screening in northern Italy.

BACKGROUND: From 2005 to 2010, we observed a 10-fold increase of newly diagnosed sickle cell disease in children in the province of Modena (northern Italy). The median age at diagnosis was 24 months. Since these children are too old for optimal disease management, earlier detection of the disease is needed for prophylaxis and comprehensive care before the occurrence of clinical manifestations. MATERIALS AND METHODS: In each Maternity Unit of the province of Modena, blood samples are collected daily for assessment of haemolytic disease of the newborn. We designed a selective, low-cost haemoglobin screening for sickle cell disease in high-risk immigrants. We enrolled 469 mothers from sub-Saharan countries and their neonates for a primary screening of peripheral blood haemoglobin variants using high-performance liquid chromatography. RESULTS: Of the 469 women approached, 330 (70.36%) agreed to undergo the test. Ninety-two (27.88%) were carriers of variant haemoglobin, 48 newborns (51%) of these carriers had the carrier trait and 9 (9.6%) were affected (haemoglobin SC compound heterozigote - HbSC, haemoglobin S homozygote - HbSS). DISCUSSION: These results support the feasibility and usefulness of a selective screening for the detection of haemoglobin variants in high-risk subjects in an area in which sickle cells disease is not endogenous. We achieved the goal of detecting subjects with carrier trait/disease in order to implement preventive measures that reduce the clinical manifestations of sickle cell disease. We are, however, aware that it will be necessary to extend this screening to the overall population in the near future.

Time estimation during prolonged sleep deprivation and its relation to activation measures.

This is the first study to analyze variations in time estimation during 60 h of sleep deprivation and the relation between time estimation performance and the activation measures of skin resistance level, body temperature, and Stanford Sleepiness Scale (SSS) scores. Among 30 healthy participants 18 to 24 years of age, for a 10-s interval using the production method, we found a lengthening in time estimations that was modulated by circadian oscillations. No differences in gender were found in the time estimation task during sleep deprivation. The variations in time estimation correlated significantly with body temperature, skin resistance level, and SSS throughout the sleep deprivation period. When body temperature is elevated, indicating a high level of activation, the interval tends to be underestimated, and vice versa. When the skin resistance level or SSS is elevated (low activation), time estimation is lengthened, and vice versa. This lengthening is important because many everyday situations involve duration estimation under moderate to severe sleep loss. Actual or potential applications of this research include transportation systems, emergency response work, sporting activities, and industrial settings in which accuracy in anticipation or coincidence timing is important for safety or efficiency.