Pulmonary stenosis and reactive right ventricular hypertrophy in the recipient fetus as a consequence of twin-to-twin transfusion

The present study describes an association between adverse outcome in the twin-to-twin transfusion syndrome (TTTS) and pulmonary stenosis or reactive right ventricular hypertrophy. Six discordant monozygotic twin pregnancies with TTTS are described. Ventricular hypertrophy and atrioventricular valvular regurgitation occurred in all the recipient twins with pulmonary valvular stenosis in three cases and infundibular stenosis in one case. The recipient twin in one pair and both twins in another pregnancy died as a consequence of immaturity but the remaining twins all survived. Surgical intervention was required in one baby for valvular pulmonary stenosis. Our observations suggest that elevated blood pressure in the transfusion recipient may play an important role in pathogenesis. We hypothesise that both pulmonary stenosis and right chamber hypertrophy are secondary to hemodynamic changes. Although we have found valvular pulmonary stenosis in three recipients and infundibular stenosis in only one, this (obstruction to outflow) could be due to right chamber hypertrophy. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia. Copyright © 2004 John Wiley & Sons, Ltd.     

Prenatally detected double trisomy: Klinefelter and Down syndrome

Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of using biochemical screening which, in our case, were crucial in arriving at the correct diagnosis. Copyright © 2006 John Wiley & Sons, Ltd.     

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.     

A drowned Mesozoic bird breeding colony from the Late Cretaceous of Transylvania

Despite a rapidly improving fossil record, the reproductive biology of Mesozoic birds remains poorly known: only a handful of undisputed, isolated Cretaceous eggs (some containing embryonic remains) are known. We report here the first fossil evidence for a breeding colony of Mesozoic birds, preserved at the Late Cretaceous (Maastrichtian) Oarda de Jos (Od) site in the Sebe? area of Transylvania, Romania. A lens of calcareous mudstone with minimum dimensions of 80?cm length, 50?cm width and 20?cm depth contains thousands of tightly packed, morphologically homogenous eggshell fragments, seven near-complete eggs and neonatal and adult avialan skeletal elements. Eggshell forms 70–80?% of the matrix, and other fossils are entirely absent. The bones exhibit clear characters of the Cretaceous avialan clade Enantiornithes, and the eggshell morphology is also consistent with this identification. Both taphonomy and lithology show that the components of this lens were deposited in a single flood event, and we conclude that it represents the drowned remains of a larger enantiornithine breeding colony, swamped by rising water, washed a short distance and deposited in a shallow, low-energy pond. The same fate often befalls modern bird colonies. Such a large concentration of breeding birds suggests aquatic feeding in this species, augments our understanding of enantiornithine biology and shows that colonial nesting was not unique to crown birds.     

A new report of mesomelic camptomelia,polydactyly and Dandy–Walker complex in siblings

Two male siblings with several malformations are reported. The anomalies detected in both fetuses were mesomelic camptomelia, postaxial hexadactyly and Dandy–Walker complex. There was only one similar previous report in the literature. This combination could represent a specific pattern of malformation or a new syndrome, with different variants. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern. Copyright © 2003 John Wiley & Sons, Ltd.     

Metals and selenium in wild animals from Norwegian areas close to Russian nickel smelters

This paper reports the concentrations of metals (Al, As, Cd, Cr, Cu, Hg, Ni, Pb, and/or Zn) and selenium (Se) in kidney and/or liver samples from capercaillie (Tetrao urogallus), willow ptarmigan (Lagopus lagopus), hares (Lepus timidus), common shrews (Sorex araneus) and grey-sided voles (Clethrionomus rufocanus) from the Norwegian areas most heavily contaminated by pollutants from the Russian smelters on the Kola peninsula. In addition to comparing areas that differed in expected pollution rate within Sør-Varanger, comparisons are drawn with reference data from other parts of Norway. The relatively highest levels of metals were found for Cu and Ni in the sub-area most heavily exposed to pollution from the smelters. Also the highest Cr concentrations were found in the areas closest to the smelters. In this study, there is evidence for a direct link between increased metal concentrations in wild animals and pollution from the Russian smelters for Cu and Ni and to some extent for Cr. relatively high concentration of Hg and slight increases in Pb are also documented, but regional differences within Sør-Varanger indicate no direct relationship to the Russian smelters. No samples showed concentrations of any of the analysed metals in excess of the limits where negative effects on animals can be measured.     

Three Different Topics for Bioremediation Application on Soils and Waters Contaminated with Aromatic Compounds, by Using Immobilized Bacteria

Molecular techniques and modelling are presented as powerful tools required in the performance of efficient soil and water bioremediation systems. An Escherichia coli CC118-D strain was constructed by inserting the Klebsiella pneumoniae hpa B gene, coding for the unstable 3,4-dihydroxyphenylacetate 2,3-dioxygenase, into its chromosome. When the constructed strain was immobilized, both enzyme stability and viability increased along the studied period, in absence of antibiotic. We proposed this strategy as an approach to overcoming plasmid instability and to enhance enzyme activity and stability, avoiding antibiotic utilization. A model was developed to understand and predict the behaviour of bacteria and pollutants in a bioreactor system, considering: fluid dynamics, molecular/cellular scale processes and biofilm formation.     

Specialization of the entomopathogenic nematode Steinernema scapterisci with its mutualistic Xenorhabdus symbiont

The level of specialization of the entomopathogenic nematode Steinernema scapterisci with its native Xenorhabdus symbiont was investigated by testing (1) the influence of non-native bacterial strains on nematode fitness within an insect-host (Galleria mellonella) and (2) specificity of the association between the nematode infective juveniles and non-native bacteria. All non-native Xenorhabdus spp. or Photorhabdus spp. strains tested were mutualistically associated with other entomopathogenic nematodes in nature. We showed that most of the Xenorhabdus spp. strains tested led to an insignificant difference of the nematode's fitness compared to the one obtained with the native bacterium. Conversely, Photorhabdus spp. strains almost entirely abolished nematode reproduction. The phylogenetic analysis of bacterial strains tested, showed that there was a negative correlation between S. scapterisci's reproduction rate with a bacterial strain and the genetic distance of this bacterial strain from the native one. We also showed that the native bacterium was the only one which was transmitted by S. scapterisci's infective juveniles. All these results, suggested a specialization between S. scapterisci and its native Xenorhabdus. As the same phenomenon was already demonstrated in the association between S. carpocapsae and X. nematophila, specialization between partners would not be an exception in entomopathogenic nematode-bacteria interactions. Nevertheless, S. scapterisci showed a dramatically higher compatibility with non-native Xenorhabdus spp. strains than did S. carpocapsae, suggesting differences in the co-evolutionary processes between nematodes and bacteria in these two model systems.Table 1 List of the bacterial strains, native nematode species with their geographical origin, accession numbers of bacterial 16S rDNA partial sequences and number of combination experiments for each bacterium tested