Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,xxy male heterozygous for a missense point mutation

Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.     

Optimizing carbon sequestration in commercial forests by integrating carbon management objectives in wood supply modeling

This paper provides a methodology for generating forest management plans, which explicitly maximize carbon (C) sequestration at the forest-landscape level. This paper takes advantage of concepts first presented in a paper by Meng et al. (2003; Mitigation Adaptation Strategies Global Change 8:371–403) by integrating C-sequestration objective functions in existing wood supply models. Carbon-stock calculations performed in Woodstock^TM (RemSoft Inc.) are based on C yields generated from volume table data obtained from local Forest Development Survey plots and a series of wood volume-to-C content conversion factors specified in von Mirbach (2000). The approach is used to investigate the impact of three demonstration forest-management scenarios on the C budget in a 110,000 ha forest in south-central New Brunswick, Canada. Explicit demonstration scenarios addressed include (1) maximizing timber extraction either by clearcut or selection harvesting for greatest revenue generation, (2) maximizing total C storage in the forest landscape and in wood products generated from harvesting, and (3) maximizing C storage together with revenue generation. The level of clearcut harvesting was greatest for scenario 1 (≥15 × 10⁴ m³ of wood and ≥943 ha of land per harvesting period), and least for scenario 2 (=0 m³ per harvesting period) where selection harvesting dominated. Because softwood saw logs were worth more than pulpwood ($60 m⁻³ vs. $40 m⁻³) and were strategic to the long-term storage of C, the production of softwood saw logs exceeded the production of pulpwood in all scenarios. Selection harvesting was generally the preferred harvesting method across scenarios. Only in scenario 1 did levels of clearcut harvesting occasionally exceed those of selection harvesting, mainly in the removal of old, dilapidated stands early in the simulation (i.e., during periods 1 through 3). Scenario 2 provided the greatest total C-storage increase over 80 years (i.e., 14 × 10⁶ Mg C, or roughly 264 Mg ha⁻¹) at a cost of $111 per Mg C due to lost revenues. Scenarios 3 and 1 produced reduced storage rates of roughly 9 × 10⁶ Mg C and 3 × 10⁶ Mg C, respectively; about 64% and 22% of the total, 80-year C storage calculated in scenario 2. The bulk of the C in scenario 2 was stored in the forest, amounting to about 76% of the total C sequestered.     

Prenatal demonstration of a cervical myelocystocele

Myelocystocele is a rare spinal cord disorder and has not been described prenatally. We report a case in which prenatal ultrasound and magnetic resonance imaging (MRI) demonstrated a posterior cervical mass which was initially thought to be a meningocele or an atypical cystic hygroma. Surgery performed at 1 day of age showed this to be a myelocystocele. Therefore, the differential diagnosis of an extracranial cystic mass in the posterior cervical region should be expanded to include myelocystoceles.     

Short communications normal fetal growth despite persistent amniotic fluid leakage after genetic amniocentesis

Two women not only lost relatively large amounts of amniotic fluid immediately following genetic amniocentesis, but continued to lose fluid for the remainder of their pregnancies. Periodic ultrasonographic assessment confirmed normal fetal growth and presence of some amniotic fluid. Both women were delivered at term of normal offspring who showed no evidence of fetal deformations. Although amnionitis is a risk, cautious surveillance may permit continuation of pregnancies complicated by copious or persistent amniotic fluid leakage following genetic amniocentesis.     

A new C12 alcohol identified as a sex pheromone and a trail-following pheromone in termites: the diene (<Emphasis Type="Italic">Z</Emphasis>,<Emphasis Type="Italic">Z</Emphasis>)-dodeca-3,6-dien-1-ol

The diunsaturated C12 alcohol (Z,Z)-dodeca-3,6-dien-1-ol (dodecadienol) has been characterized by GC-MS and FTIR as a novel releaser pheromone in termites. This alcohol identified in Ancistrotermes pakistanicus (Termitidae, Macrotermitinae) possesses a double pheromonal function which again illustrates the chemical parsimony of termites compared with other social insects. In workers, dodecadienol elicits trail-following at a very low concentration (activity threshold at 0.1 pg/cm of trail); in male alates it induces trail-following at a low concentration (1–10 pg/cm) and sexual attraction at a higher concentration (about 1 ng). Traces of the monounsaturated C12 alcohol (Z)-dodec-3-en-1-ol (dodecenol), known as a trail pheromone of several Macrotermitinae, were also found in the sternal gland extracts of A. pakistanicus, although only dodecadienol was present at the surface of the sternal gland. Workers of A. pakistanicus are not sensitive to dodecenol, but they are as sensitive to dodecatrienol as to dodecadienol. However, in the study area (Vietnam), A. pakistanicus is living in sympatry only with those Macrotermitinae using dodecenol as a trail pheromone, the foraging populations therefore being well isolated through their respective trail pheromones. The presence of three types of unsaturated C12 alcohols as releaser pheromones in the only Macrotermitinae subfamily is discussed, and a possible biosynthetic pathway from linoleic acid is proposed for dodecadienol.     

应对不确定性:呼吁建立新的科学政策论坛

科学界和政策界具有不同的目标,这就自然导致了对构成某种变化或现象的"检验"标准的差异,以及用不同的方法去描述不确定性和风险的持性及传达不确定性和风险.这些差异可能损害科学家、决策者和公众之间的有效沟通,同时也限制了科学家所愿意研究的社会紧迫问题的类型.本文主要回顾了一系列处理不确定性问题的方法,阐述了当科学和政策不能很好协调时所可能引起的一些错误.并在此基础上,特别针对解决不确定性问题提出了一些具体建议,包括重构科学规范,建立由科学、政策两方面领导广泛参加的科学政策论坛.     

Queen number, queen cycling and queen loss: the evolution of complex multiple queen societies in the social wasp genus Ropalidia

Complex, highly integrated societies have evolved from simpler societies repeatedly, and the social insects provide an excellent model system for understanding increasing complexity and integration. In the paper wasps, large societies, known as swarm-founding, have evolved repeatedly from smaller societies, known as independent-founding. Swarm-founding colonies have many more queens than independent-founding colonies, which should dramatically reduce relatedness, posing a challenge to cooperation. However, in each instance, swarm-founding species have also evolved a cyclical pattern of queen reduction which elevates relatedness despite high queen numbers. The genus Ropalidia provides an excellent system in which to study the transition to swarm-founding because it has both independent and swarm-founding species. We studied the Australian independent-founding wasp Ropalidia revolutionalis to better understand the evolution of multiple queens and their periodic reductions in swarm-founding wasps. Using microsatellite genetic markers we genotyped queens, workers and brood from 37 colonies and found that while most colonies had a single queen, three of the colonies had multiple queens at or immediately prior to the time of collection. An additional seven colonies had had multiple co-occurring queens earlier in the season. We also found that colonies experienced many queen losses, and that founding queens were gradually lost until they were replaced by a new cohort of daughter queens in many colonies. This pattern is similar to the periodic reductions and replacements in swarm-founding wasps and suggests that multiple queens and queen cycling evolved relatively early in the shift to swarm-founding in Ropalidia.Communicated by R. Page     

Black spots and female association preferences in a sexual/asexual mating complex (Poecilia, Poeciliidae, Teleostei)

We investigated whether female association preferences for males are influenced by black spot disease (BSD), a parasite induced change of the host phenotype. We compared three different species of fish: a gynogenetic hybrid species, Poecilia formosa (amazon molly) and two sexual species (Poecilia latipinna and Poecilia mexicana), which were involved in the natural hybridisation leading to the amazon molly. Contrary to their sexual relatives, asexual amazon mollies significantly avoided images of males infected with black spot disease. We propose that amazon molly females have direct fitness benefits from choosing healthy males. The adaptive significance of the preference for BSD-uninfected males in the asexual amazon molly is yet unclear but may involve avoidance of predation or parasite infection as well as increased sperm availability.     

Ökotoxikologische Wirkungen von Teeröl-imprägnierten Holzpfählen

Aim and Scope

This study was aimed at evaluating environmental effects of tar-oil impregnated (tanalized) tree stakes using simple and efficient biotests to obtain results of its ecological impacts during the tar-oil breakdown in the stake.

Results

1. Soil respiration was measured in-situ as an indication of soil microbial activity in two field trials. Soil respiration was measured in a 20 year-old apple orchard at various distances from the tar-oil impregnated tree stakes and also on soil mixed with chippings from pine stakes with tar-oil impregnation of different ages.
2. Cress germination tests were employed to evaluate tar-oil phytotoxicity in a field and laboratory trial. Cress was seeded close to tree stakes in the same 20 year-old apple orchard and germination rates related to tar oil-impregnation. Cress was also seeded in trays in sand mixed with pine chippings from stakes with tar-oil impregnation of different ages.
3. The portion of the carcinogenic benzoapyrene (BaP) ranged between 0.0015% in freshly tar-oil impregnated to 0.4% in tar-oil impregnated 20-year old trees stakes, i.e. irrespective of the overall PAK concentration and its degradation.
4. Kinetic analysis using DIXON plots showed a 50% breakdown of overall PAHs after ca. 2.7 years, i.e. km or Ki values of less than 3 years.

Conclusion

Germination tests of cress and endogenous seeds as well as soil respiration proved sensible indicators of the phytotoxicity and ecotoxicity of tar-oil impregnated tree stakes in fruit orchards. Soil respiration proved particularly sensitive to tar-oil ageing. Its combination with kinetic inhibition models resulted in parameters suitable for the interpretation of results.     

Invasion patterns inferred from cytochrome oxidase I sequences in three bryozoans, Bugula neritina, Watersipora subtorquata, and Watersipora arcuata

Nucleotide variation in cytochrome c oxidase subunit I (COI) was used to examine population structure in three invasive bryozoans: Bugula neritina (Linnaeus, 1758), Watersipora subtorquata (d’Orbigny, 1852), and W. arcuata (Banta, 1969). These species are found on ship hulls and have a short (≤2 days) larval phase. Samples were collected from 1998–2001 at multiple sites in Australia, and in Hong Kong, New Zealand, Hawaii, California, Curaçao, and England. B. neritina is known to include three cryptic species, including species Type S (Davidson and Haygood in Biol Bull 196:273–280, 1999) which occurs on the east and west coasts of the USA. One haplotype recorded previously in the USA, S1, was found to be widespread, occurring throughout Australia and in Hong Kong, Curaçao, Hawaii, and England. W. subtorquata, a Caribbean–Atlantic species which has invaded southern Australia, New Zealand, and California, had low nucleotide diversity in these areas (π=0.0016±0.0014), consisting of three haplotypes connected by one or two nucleotide mutations. W. arcuata, an Eastern-Pacific native, had comparatively high diversity (π=0.0221±0.0115) in introduced populations from Australia and Hawaii. In each species, identical haplotypes were identified on separate coastlines providing evidence of widespread, rather than genetically independent, introductions. The major contrast in nucleotide diversity suggests that different propagule-source models explain introductions.