Pilot study for the neonatal screening of fragile X syndrome

An Erratum has been published for this article in Prenatal Diagnosis 23 (9), 2003, 771. Fragile X syndrome (SFX) is the commonest form of inherited mental retardation. Due to the highly variable phenotype clinical diagnosis is complicated. In nearly all cases, the disorder is caused by expansion of a CGG-repeat in the 5′-untranslated region of the FMR1 (fragile X mental retardation-1) gene. We have evaluated the feasibility, efficiency and costs of two methodologies in order to develop a simple test to screen large populations: PCR and fragile X mental retardation-1 protein (FMRP) immunodetection. We studied 100 newborn males using PCR and immunodetection (26.91 Euro). All but one amplified the CGG repeat of the FMR1 gene within the normal size range. The sample that failed to amplify showed only 28% of FMRP expression by immunodetection study; both results indicated an affected male. A further 100 males were studied only by polymerase chain reaction (PCR) (7.8 Euro); all of them amplified within the normal size range. Both methodologies, PCR and immunodetection, are feasible for screening large populations, PCR being the most suitable, economical and less time-consuming. However, it is advisable to keep slides for immunodetection when PCR fails or the external control shows no amplification. Early detection of SFX-affected individuals would represent a great benefit for their maximum social integration, due to appropriate treatment and early stimulation and would permit a cascade screening in their pedigree. Copyright © 2002 John Wiley & Sons, Ltd.     

Vitellogenesis in the deep-sea shark Centroscymnus coelolepis

At present, information on the reproductive physiology of Centroscymnus coelolepis, which is one of most important and widespread deep-sea shark species, is completely lacking. In this study, we investigated vitellogenesis, a key step in the reproduction biology of fishes. Specimens of C. coelolepis were collected at 2850 m depth in the Western Mediterranean Sea. The size of the collected sharks (range: 35.5-65.0 cm TL) was much lower than those typically reported for the Atlantic and Pacific Oceans. The marked distinctiveness of Mediterranean and Atlantic/Pacific populations was reflected by the achievement of sexual maturity at a smaller size in Mediterranean specimens. The examination of cytoplasmatic components of oocytes indicated that vitellogenin uptake in the ovary started when oocytes reached 14 mm in diameter. Only reproductive females displayed a significant relationship between plasmatic vitellogenin and gonadal development, suggesting that vitellogenesis in C. coelolepis is a discontinuous process. Oestradiol levels were tightly coupled with gonadal development, underlining the importance of this hormone in controlling vitellogenesis. All these findings suggest that vitellogenesis in this yolk-sac viviparous shark might occur with similar mechanisms of oviparous vertebrates.     

Neanderthal medics? Evidence for food, cooking, and medicinal plants entrapped in dental calculus

Neanderthals disappeared sometime between 30,000 and 24,000?years ago. Until recently, Neanderthals were understood to have been predominantly meat-eaters; however, a growing body of evidence suggests their diet also included plants. We present the results of a study, in which sequential thermal desorption-gas chromatography-mass spectrometry (TD-GC-MS) and pyrolysis-gas chromatography-mass spectrometry (Py-GC-MS) were combined with morphological analysis of plant microfossils, to identify material entrapped in dental calculus from five Neanderthal individuals from the north Spanish site of El Sidrón. Our results provide the first molecular evidence for inhalation of wood-fire smoke and bitumen or oil shale and ingestion of a range of cooked plant foods. We also offer the first evidence for the use of medicinal plants by a Neanderthal individual. The varied use of plants that we have identified suggests that the Neanderthal occupants of El Sidrón had a sophisticated knowledge of their natural surroundings which included the ability to select and use certain plants.