Mucolipidosis IV: Prenatal diagnosis by electron microscopy

Mucolipidosis IV (ML 1V) is a lysosomal storage disease presenting in infancy with cloudy cornea and psychomotor retardation. Our experience with 12 pregnancies at risk for ML IV, monitored by transmission electron microscopy (TEM) studies of cultured amniotic fluid cells, is presented. The prenatal diagnoses were confirmed in the 3 affected and the 8 un- affected pregnancies. In the one pregnancy where no definite diagnosis was reached the pregnancy was terminated. TEM examination of fetal tissues from this pregnancy showed no abnormal lysosomal storage bodies and a review of the cultured amniotic fluid cell sections revealed that the diagnosis of a normal fetus could have been made.     

Set a thief to catch a thief: brown-necked raven (Corvus ruficollis) cooperatively kleptoparasitize Egyptian vulture (Neophron percnopterus)

Our study describes how brown-necked ravens (Corvus ruficollis) are able to take advantage of an ordinarily inaccessible, high-quality food source by relying upon their innovative and manipulative thinking capabilities to exploit methods used by Egyptian vulture (Neophron percnopterus) to overcome the problem. In five observed interactions, the ravens were first seen in the vicinity of an abandoned clutch of ostrich eggs (Struthio camelus). The area was frequented by a pair of Egyptian vultures that bred on the cliffs across the road from the nature reserve. The Egyptian vulture exhibits tool use in birds, and is able to crack the hard shells of ostrich eggs by lifting a rock in the beak and pounding at the egg till it breaks open or cracks. If the egg is only cracked, the vulture inserts its narrow bill into the fissure and widens it by opening the mandibles. Pieces of eggshell are removed from around the crack in order to further open the egg. This is the point at which the pair of ravens attacked the vulture and harassed it till it abandoned the egg and left the area. The ravens then jointly enjoyed the contents of the egg which was otherwise inaccessible to them because of the strong egg shell.     

气溶胶中正构烷烃单体化合物稳定碳同位素分布特征初步研究

不同来源的气溶胶中正构烷烃稳定碳同位素的分布特征有比较明显的区别,以低陆生植物为主的高原清洁区,其气溶胶中正构烷烃δ＾１３Ｃ较轻,随碳数的增加,δ＾１３Ｃ较平平缓的曲线,以高等植物为主的海滨清洁区,正构烷烃δ＾１３Ｃ分布亦为较平缓的英线,但δ＾１３Ｃ较前者稍重,为－２８‰－－２７‰;人为污染严重的城市区,气溶胶正构烷烃δ＾１３Ｃ为－２９‰－－２５‰,且随碳数的增加有较大的变化。     

Steps in the construction of underwater coral nursery, an essential component in reef restoration acts

Many coral reefs worldwide are rapidly declining, but efficient restoration techniques are not yet available. Here, we evaluate methodologies for reef restoration based on the “gardening concept”. A floating mid-water prototype nursery was placed at 6 m depth (14 m above sea-bottom) within the nutrient-enriched environment of a fish farm (Eilat, Red Sea). Ten colonies from five branching coral species provided 6,813 fragments (0.5–3 cm height). The fragments, each attached to a plastic pin, were inserted into plastic nets that were tied to a rope-net floating nursery. After 144 nursery days, only 13.1% of the fragments died and 21.2% were detached by mechanical forces. Small colonies ready for transplantation developed within 144–200 days. Ramets’ ecological volumes increased 13–46 folds and their heights by a factor of 3.5. After 306 days, the ecological volumes of the colonies increased 147–163 fold as compared to original volumes (revealing a daily growth rate constant of 1.67% during the first 5–10 months) and height values by a factor of six. Building and maintenance costs of the nursery were low. This nursery prototype demonstrates the feasibility of the coral “gardening concept” by fulfilling several important needs, namely, mass production of coral colonies at low costs, high survivorship, fast growth, short nursery phase and improved methodologies for handling farmed colonies.     

Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth

We describe two newborn sisters who presented in the third trimester with diminished fetal movements and skin edema, but with no other signs of hydrops fetalis. Within hours of birth, both developed profound lactic acidemia, followed by multi-organ failure. In muscle mitochondria, the activity of all enzymatic complexes that contain mitochondrial DNA (mtDNA)-encoded subunits was markedly decreased. Southern blot analysis revealed a profound reduction in the mtDNA/nuclear DNA ratio, implying mtDNA depletion. The prenatal identification of skin edema in two patients with mtDNA depletion, and its absence in a healthy sibling, suggest that skin edema should be regarded as a novel manifestation of mtDNA depletion. This finding shows that mtDNA depletion can present prenatally and, consequently, may aid the clinician in making a diagnosis, prenatally, of this genetic defect. Copyright © 2002 John Wiley & Sons, Ltd.     

Cultured amniotic fluid cells for prenatal diagnosis of lysosomal storage disorders: A methodological study

The influence of culture conditions on the ultrastructure and enzyme activities of amniotic fluid cells are reported. Morphological changes were determined as a function of the number of lysosomal-like inclusion bodies per cell, and these results correlated to the activity of Thiexosaminidase, a-mannosidase, β-glucuronidase, arylsulphatase C and 5′ nucleotidase. The parameters examined were pH of the culture media, type of media, increasing cell passage and day of harvest. Our results indicate that enzyme activities are less sensitive to changes in culture conditions as compared to ultrastructural changes. We therefore recommend that in order to obtain reliable ultrastructural results for the diagnosis of storage disorders, cultures should be grown in MEM as the culture medium, the pH of the medium carefully monitored to remain below pH 7·4, examining the cultures no later than the eighth cell passage and no later than the 10th day after subculture.     

Impact of microbial activity on the hydraulic properties of fractured chalk

The impact of microbial activity on fractured chalk transmissivity was investigated on a laboratory scale. Long-term experiments were conducted on six fractured chalk cores (20 cm diameter, 23-44 cm long) containing a single natural fracture embedded in a porous matrix. Biodegradation experiments were conducted under various conditions, including several substrate and oxygen concentrations and flow rates. 2,4,6-Tribromophenol (TBP) was used as a model contaminant (substrate). TBP biodegradation efficiency depended mainly on the amount of oxygen. However, under constant oxygen concentration at the core inlet, elevating the flow rates increased the removal rate of TBP. Transmissivity reduction was clearly related to TBP removal rate, following an initial slow decline and a further sharp decrease with time. The fracture's transmissivity was reduced by as much as 97% relative to the initial value, with no leveling off of the clogging process. For the most extreme cases, reductions of 262 and 157 microm in the equivalent hydraulic apertures were recorded for fractures with initial apertures of 495 and 207 microm, respectively. The reductions in fracture transmissivity occurred primarily because of clogging by bacterial cells and extracellular polymeric substances (EPS) produced by the bacteria. Most of the biodegradation activity was concentrated near the fracture inlet, where the most suitable biodegradation conditions (nutrients and oxygen) prevailed, suggesting that the clogging had occurred in that vicinity. The clogging must have changed the structure of the fracture void, thereby reducing the active volume participating in flow and transport processes. This phenomenon caused accelerated transport of non-reactive tracers and doubled the fracture's dispersivity under constant flow rates.