Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation

Occipital encephalocele belongs to the family of neural tube defects, which occur in one among 2000 to 5000 live births. Syndromic encephaloceles include Meckel–Gruber syndrome and various chromosomal abnormalities. We report on a fetal case (13 WG) with bilateral cleft lip and palate, choanal atresia, occipital encephalocele, bilateral club feet, bilateral multicystic kidneys, enlarged bladder and urethral atresia. The fetal chromosome analysis showed a maternally inherited unbalanced translocation between the short arm of chromosome 1 and the long arm of chromosome 14, resulting in 1p35-pter deletion and 14q32-qter duplication (46,XY,der(1),t(1;14)(p35;q32)). Since the chromosomal breakpoints have not previously been implicated in syndromic encephalocele, this observation is of interest for the identification of other genes responsible for occipital encephalocele. Copyright © 2007 John Wiley & Sons, Ltd.     

A posteriori hazard analysis and feedback information of an accidental event in the grains storage of an agrochemical product

The present study concerns a hazardous event which occurred in an industrial storage tank of a ground insecticide. A preliminary post-accident approach of the hazard evaluation is performed. The rapid report of the presence of an unstable functional group in the active product and of its potential thermal instability (CHETAH indices) has led to complete this examination by an experimental study of thermal analysis using isotherm exposition measurement (DTA) or with temperature programming by differential scanning calorimetry (DSC) and oxidability tests (BAM). The apparent kinetics of decomposition of the active matter of the ground insecticide has been represented by a global Arrhenius law.

A model designed for the simulation of heterogeneous thermal runaways based on the numerical solution of the transient mass and energy balances has been further applied to define the critical conditions of the storage and simulate its behavior.

The results obtained during this analysis with the experienced feedback allowed us on one side to explain the hazardous event and especially on the other side to modify the operating protocol of the conditions of formulation of the active matter on the inert mineral support.     

Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly

Porencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X-linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly. Copyright © 2001 John Wiley & Sons, Ltd.     

Evidence of a 2-day periodicity of striae formation in the tropical scallop Comptopallium radula using calcein marking

The periodicity of striae formation in the tropical scallop Comptopallium radula (Indo-West Pacific Ocean) was investigated with an in situ marking technique, using the calcein fluorochrome. To minimize scallop stress caused by excessive handling, in situ benthic chambers were used for marking experiments. Once marked, scallops (shell height range: 38.4–75.8 mm) remained on site in a large benthic enclosure and were collected at regular time intervals to count new striae formed after marking, over a period of 3 months. A 3-h exposure period with calcein (150 mg l⁻¹) was sufficiently long to create a detectable mark in nearly all shells. It was, however, impossible to count the striae in 48.2% of the shells (mainly large specimens) because of a very small growth after marking. Lack of significant mortality during the experiments indicated that tested calcein concentrations were not lethal. A decrease in shell growth rate was observed after marking but the respective impacts of calcein toxicity and changes in environmental conditions could not be discriminated. Our results suggest that in situ calcein marking inside benthic chambers is suitable for shell growth studies of scallops, provided the latter are not too old. After marking, the juvenile C. radula formed an average of one stria every 2.1 days in summer. Reports of 2-day periodicity in biological rhythms are rare. Striae formation in C. radula may be controlled by an endogenous oscillator, synchronized by an environmental cue acting as a zeitgeber, such as seawater temperature or sea level pressure, both of which exhibit 2-day variations in the Pacific Ocean. As in many other scallop species, C. radula forms striae periodically under natural conditions, but this study shows that in pectinid juveniles, this periodicity can deviate from a daily cycle. These results suggest that C. radula shells have tremendous potential for recording environmental conditions during periods ranging from months to a few years and with a resolution of 2 days.     

The oldest African bat from the early Eocene of El Kohol (Algeria)

The Afro-Arabian Paleogene fossil record of Chiroptera is very poor. In North Africa and Arabia, this record is limited, thus far, to a few localities mainly in Tunisia (Chambi, late early Eocene), Egypt (Fayum, late Eocene to early Oligocene), and Sultanate of Oman (Taqah, early Oligocene). It consists primarily of isolated teeth or mandible fragments. Interestingly, these African fossil bats document two modern groups (Vespertilionoidea and Rhinolophoidea) from the early Eocene, while the bat fossil record of the same epoch of North America, Eurasia, and Australia principally includes members of the ??Eochiroptera.?? This paraphyletic group contains all primitive microbats excluding modern families. In Algeria, the region of Brezina, southeast of the Atlas Mountains, is famous for the early Eocene El Kohol Formation, which has yielded one of the earliest mammalian faunas of the African landmass. Recent fieldwork in the same area has led to the discovery of a new vertebrate locality, including isolated teeth of Chiroptera. These fossils represent the oldest occurrence of Chiroptera in Africa, thus extending back the record of the group to the middle early Eocene (Ypresian) on that continent. The material consists of an upper molar and two fragments of lower molars. The dental character association matches that of ??Eochiroptera.?? As such, although very fragmentary, the material testifies to the first occurrence of ??Eochiroptera?? in Algeria, and by extension in Africa. This discovery demonstrates that this basal group of Chiroptera had a worldwide distribution during the early Paleogene.     

When solids meet solids: A glimpse into dust mixture explosions

Mixing an inert solid or a less flammable compound with a combustible dust can be regarded as a direct application of the inherent safety principle of moderation. An experimental investigation was carried out to determine the evolution of the ignition sensitivity and the explosion severity of such various mixtures as a function of their compositions. It demonstrates that the introduction of small amounts of highly combustible powders (such as sulphur or nicotinic acid) to a less flammable dust (such as microcrystalline cellulose or carbon black) can strongly influence the ignition sensitivity as well as the explosion severity.It has notably been shown that the ignition sensitivity of solid/solid mixtures significantly rises up when only 10–5%wt. of highly flammable dust is introduced. Simple models can often be applied to estimate the minimum ignition energy, minimum ignition temperature and minimum explosive concentration of such mixtures. Concerning the dust explosivity, three cases have been studied: mixtures of combustibles dusts without reaction, dusts with reactions between the powders, combustible dusts with inert solid. If the evolution of the maximum explosion pressure can be estimated by using thermodynamic calculations, the maximum rate of pressure rise is more difficult to predict with simple models, and both combustion kinetics and hydrodynamics of the dust clouds should be taken into account. These results were also extended to flammable dust/solid inertant mixture. They clearly show that the concentration of solid inertant at which the ignition is not observed anymore could reach 95%wt. As a consequence, the common recommendation of solid inertant introduction up to 50–80%wt. to prevent dust explosion/ignition should be reconsidered.     

Extended family structure in the ant Formica paralugubris: the role of the breeding system

In populations of various ant species, many queens reproduce in the same nest (polygyny), and colony boundaries appear to be absent with individuals able to move freely between nests (unicoloniality). Such societies depart strongly from a simple family structure and pose a potential challenge to kin selection theory, because high queen number coupled with unrestricted gene flow among nests should result in levels of relatedness among nestmates close to zero. This study investigated the breeding system and genetic structure of a highly polygynous and largely unicolonial population of the wood ant Formica paralugubris. A microsatellite analysis revealed that nestmate workers, reproductive queens and reproductive males (the queens' mates) are all equally related to each other, with relatedness estimates centring around 0.14. This suggests that most of the queens and males reproducing in the study population had mated within or close to their natal nest, and that the queens did not disperse far after mating. We developed a theoretical model to investigate how the breeding system affects the relatedness structure of polygynous colonies. By combining the model and our empirical data, it was estimated that about 99.8% of the reproducing queens and males originated from within the nest, or from a nearby nest. This high rate of local mating and the rarity of long-distance dispersal maintain significant relatedness among nestmates, and contrast with the common view that unicoloniality is coupled with unrestricted gene flow among nests. Received: 8 February 1999 / Received in revised form: 15 June 1999 / Accepted: 19 June 1999     

湿式氧化技术的应用现状与发展

湿式氧化技术是上世纪50年代发展起来的一项在高温高压下处理废水的技术。50年来,被广泛地应用于高浓度难降解有机废水和城市污水厂污泥的处理。着重介绍了当今世界上几种主要的湿式氧化工艺的工艺特点及应用现状,为我国湿式氧化技术的工业应用提供参考,并提出了今后的研究重点。     

Biliary PAH metabolites, EROD activity and DNA damage in dab (Limanda limanda) from Seine Estuary (France)

The Seine Estuary is well known to be widely contaminated by organic pollutants and especially by polycyclic aromatic hydrocarbons (PAHs). Fish are known to metabolize PAHs, leading to different toxic effects at both cellular and sub-cellular levels. In this work, we studied the relationships between the 7-ethoxyresorufin-O-deethylase (EROD) activity in the liver, the level of DNA strand breaks in blood cells and the concentration of PAH metabolites in the bile of the sentinel flatfish species Limanda limanda. Muscle and liver samples were analysed for parent PAH levels. Female and male dabs of two size classes (juveniles and adults) were collected by trawling in two sites with different degrees of pollution during March and September 2005 and 2006. Significant effects of sex, age, site and season were demonstrated on EROD activity and the level of strand breaks. Parent PAH concentrations in dabs did not allow discriminating of the two sampling sites. However, for PAH metabolites, significant differences were observed with sites and seasons. Dabs collected at the mouth of the estuary appeared to be the most impacted when looking at the results obtained with the three selected markers. The significant correlations observed between the level of PAH metabolites and the level of DNA lesions showed the importance of a combined analysis of chemical and biochemical markers to correctly assess the contribution of chemical contamination to the toxic effects measured in situ in fish.