Prenatal diagnosis of Juberg–Hayward syndrome

Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd.     

Split notochord syndrome variant: prenatal findings and neonatal management

Spilt notochord syndrome is an extremely rare form of spinal dysraphism characterized by a complete cleft of the spine and a persistent communication between endoderm and ectoderm. A variant of split notochord syndrome was diagnosed in a 25-week-old fetus showing a prolapsed congenital colostomy and a spinal cystic lesion. The final diagnosis included protruding colon segment, imperforate anus with a rectourethral fistula and lipomyelomeningocele. The ultrasound features of the condition and the post-natal management are discussed. The neonate was successfully treated with a posterior sagittal anorectoplasty, while the lipomyelomeningocele was resected at a later stage. Copyright © 2005 John Wiley & Sons, Ltd.     

Site characteristics,growth and nutrition of natural red pine stands in newfoundland

Red pine (Pinus resinosa Ait.) is rare (< 15 000 mature trees) in Newfoundland and is known from only 22 locations in the central region. Red pine occupies 3 major site types in Newfoundland: 1) red pine on medium-textured sands (RP1), 2) red pine on coarse-textured glaciofluvial deposits (RP2), and 3) red pine on Folisols over bedrock (RP3). The succession of red pine site types after cutting is from red pine to Kalmia-black spruce (Picea mariana (Mill.) B.S.P.) for RP1, and to Cladonia-Kalmia-black spruce for types RP2 and RP3. Succession after fire is usually to the pre-fire type, but this depends on the severity of the fire.Although occupying a relatively poor site, red pine at 60–70 years reaches heights in excess of 18 m, dbh in excess of 40 cm, and individual tree volumes greater than 1 m³ were recorded in 75 stemanalyzed fire-killed trees. Black spruce on that same site produces less than one-third that volume in 60 years. Merchantable volume of 140–280 m³ ha^-1 were recorded i.e., Canada Land Inventory (CLI) forest capability class 5 and class 4 ratings. This raises the CLI rating two capability classes if red pine were occupying these poor quality sites over black spruce. In terms of nutrition, even the best growing red pine are nitrogen (N) deficient as shown by foliar analysis. All natural stands have foliar N concentrations below 1.3% which is the critically low level shown in the literature. Immediately after fire, foliar concentrations reach this level but are usually about 1% or less. Most other nutrients are low but are within the generally reported adequate levels in testing for P, K, Ca and Mg.Fire influences soil nutrient availability as pH increases in the RP1 type. Burning temperature also affects soil pH and the understory vegetation. The RP2 type loses more N in hotter burns on this site type and more N is tied up in these ortstein hardpan soils. The pattern of regeneration following wildfire is related to slope, density, age and species mixture of the stand as well as the thickness and composition of the duff layer.     

Loss of genetic diversity in Harpacticoida near offshore platforms

Offshore oil and gas production platforms can be a source of chronic stress that could lead to sublethal impacts on resident benthic organisms. In June 1993 and January 1994, genetic diversity of Harpacticoida (Copepoda) living proximal to operating, offshore platforms in the Gulf of Mexico was estimated to test if platforms are associated with strong selective pressures. Because harpacticoids have short generation times and direct benthic development, they are suitable organisms for examining population responses. Genetic diversity was estimated by comparing restriction fragment length polymorphisms generated from mitochondrial DNA amplified by the polymerase chain reaction on individuals of five species (Cletodes sp., Enhydrosoma pericoense, Normanella sp., Robertsonia sp., and Tachidiella sp.). Populations living at Near regions (stations<50 m from a platform) had significantly less haplotype diversity than populations of the same species living at Far regions (stations>3 km from a platform). The levels of haplotype diversity exhibited by the Far populations were similar at three different platforms located hundreds of kilometers apart. The differences in haplotype diversity between Near and Far regions were the result of a higher proportion of dominant haplotypes, and a loss of less common haplotypes. Haplotypic diversity was inversely correlated with a multivariate measurement of levels of sediment contaminants. The pattern of haplotype diversity on the Gulf of Mexico continental shelf seems to consist of a uniform level of haplotype diversity, punctuated by islands of lower diversity around oil and gas platforms. The selective pressures that lead to a loss of genetic diversity may be the result of contaminants, other differences in the physico-chemical environment, or disturbance in general.     

Surveillance for adverse health effects following a chemical release in west virginia

On 11 August 1985, a large inadvertent release occurred from a chemical manufacturing plant in Institute, West Virginia. The emission was related to overheating of a storage tank that contained chemicals for the production of aldicarb, a cholinesterase inhibiting pesticide. As a result of this emission, 136 persons were treated in five local emergency rooms, 29 of whom were hospitalized for one or more days, mostly for observation. No fatalities resulted. Interviews with treated persons and non-treated community residents confirmed that the health effects were transient and compatible with exposure to irritating vapors rather than with exposure to methyl isocyanate (a chemical used in the process) or to aldicarb. Only 5% of the treated persons and 5% of the community residents surveyed were adequately warned of the emission by the plant siren. Because persons in the nearby community are potentially vulnerable to chemical injury, we recommend the development of an improved warning system, a formal evacuation procedure, and other measures to limit exposure of persons in this area in the event of a future release.     

Oxygen and carbon isotopic composition of fish otoliths

Oxygen and carbon isotopic composition of the aragonite of fish otoliths was measured on 175 specimens comprising 24 different species in 1989 and 1990. All specimens but two came from the northern Adriatic Sea or the northern Tyrrhenian Sea (two freshwater specimens were studied for comparison with the marine fish). The data obtained confirm the results of previous research suggesting the existence of equilibrium conditions between the otolith aragonite and ambient water with respect to ·¹⁸O(CO₃ ^2-) values. Examination of one of the species indicated that the CaCO₃ of otoliths probably accumulates continuously over time, seasonal isotopic changes being clearly visible (from a set of radial spot samples) for both oxygen and carbon isotopes. The apparent isotopic equilibrium with ambient water suggests that the ¹⁸O(H₂O) of the endolymph is equal to that of seawater and considerably different from that of fish body water. In the case of ¹³C(CO₃ ^2-), isotopic equilibrium with dissolved carbon species in seawater is never reached, even though the contribution of metabolic CO₂ is variable among different species and even among different individuals of the same species. This rules out the possibility of using ¹³C(CO₃ ^2-) values obtained from fossil otoliths for paleoenvironmental and paleobiological conclusions.