Diastrophic dysplasia: A specific prenatal diagnosis by ultrasound

In a pregnant woman without increased genetic risk, the presence of distrophic dysplasia of the fetus was diagnosed sonographically at 31 weeks' gestation and definitively distinguished from other skeletal dysplasias. In all prenatal diagnoses of diastrophic dysplasia reported so far, this autosomal recessive congenital condition had occurred in the family's previous children and this made the diagnoses of fetal diastrophic dysplasia easier. The reported case was diagnosed due to evidence of an extreme shortening of all long bones of the extremities associated with other skeletal deformities which, taken as a whole, are typical of this syndrome: micrognathia, cervical kyphosis, persistent extension limitation in elbow and knee joints, club feet, ulnar diviation of hands, shortened phalanges, and, in particular, abduction of thumbs (‘hitchhiker thumbs’) and big toes.     

A Chronology of Nitrogen Deposition in the UK Between 1900 and 2000

Measurements of the concentrations of nitrogen compounds in air and precipitation in the UK have been made since the mid-19th century, but no networks operating to common protocols and having traceable analytical procedures were established until the 1950s. From 1986 onwards, a high-quality network of sampling stations for precipitation chemistry was established across the UK. In the following decade, monitoring networks provided measurement of NO₂, NH₃, HNO₃ and a satisfactory understanding of the dry deposition process for these gases allowed dry deposition to be quantified. Maps of N deposition for oxidized and reduced compounds at a spatial scale of 5 km × 5 km are available from 1986 to 2000. Between 1950 and 1985, the more limited measurements, beginning with those of the European Air Chemistry Network (EACN) provide a reasonable basis to estimate wet deposition of NO ₃ ^– –N and NH ₄ ⁺ –N. For the first half of the century, estimates of deposition were scaled with emissions assuming a constant relationship between emission and deposition for each of the components of the wet and dry deposition budget at the country scale. Emissions of oxidized N, which dominated total nitrogen emissions throughout the century, increased from 312 kt N annually in 1900 to a peak of 787 kt for the decade 1980–1990 and then declined to 460 kt in 2000. Emissions of reduced N, largely from coal combustion were about 168 kt N in 1900, increasing to a peak of 263 kt N in 2000 and by now dominated by agricultural sources. Reduced N dominated the deposition budget at the country scale, increasing from 163 kt N in 1900 to 211 kt N in 2000, while deposition of oxidized N was 66 kt N in 1900 and 191 kt N in 2000. Over the century, 68 Mt (Tg) of fixed N was emitted within the UK, 78% as NO _x , while 29 Mt of nitrogen was deposited (43% of emissions), equivalent to 1.2 t N ha^–1, on average, with 60% in the reduced form. Deposition to semi-natural ecosystems is approximately 15 Tg N, equivalent to between 1 and 5 t N ha^–1, over the century and appears to be accumulating in soil. The N deposition over the century is similar in magnitude to the total soil N inventory in surface horizons.     

Horizontal contraction or horizontal extension? Heterogeneous Late Eocene and Early Oligocene general shearing during blueschist and greenschist facies metamorphism at the Pennine–Austroalpine boundary zone in the Western Alps

Mylonitic structures related to two orogenic events are described from the upper and lower contacts of the Combin zone and the immediately overlying upper Austroalpine Dent Blanche nappe/Mont Mary klippe and the directly underlying lower Austroalpine Etirol-Levaz slice. The first event, Late Eocene in age, commenced during blueschist facies P– T conditions, but pre-dated the peak of subsequent greenschist facies overprint. The second event, Early Oligocene in age, took place during retrograde greenschist facies conditions. Most sense of shear indicators associated with the retrograde mylonites indicate top SE shearing, but subordinate top NW displacing shear sense indicators have also been mapped. Mylonitic top SE shearing appears to be restricted to the Combin zone and its upper and lower contacts. Within the Dent Blanche nappe and Mont Mary klippe and at the base of the Etirol-Levaz slice, structures were observed which developed during blueschist/greenschist facies conditions and are, in conjunction with the P– T– t history of these rocks, inferred to be older. Associated kinematic data indicate a top NW shear sense. Comparable blueschist/greenschist facies shear sense indicators have not been observed in the Combin zone. Nonetheless, the foliation in the Combin zone shows a progressive evolution from blueschist facies to greenschist facies to retrograde greenschist facies conditions. This indicates that the Combin zone and the immediately over- and underlying Austroalpine units shared a common tectono-metamorphic evolution since the Late Eocene. Finite strain data reveal oblate strain fabrics, which are thought to result from a true flattening strain geometry. Flow path modelling reveals a general non-coaxial deformation régime and corroborates significant departures from a simple shear deformation. In the study area, mylonitic top SE shearing in the Combin zone is attributed to Early Oligocene backfolding and backthrusting of the Mischabel phase. Temperature–time curves suggest slight reheating in the Monte Rosa nappe underneath and cooling in the Dent Blanche nappe above the Combin zone, hence confirming a thrust interpretation for this event. The top NW displacing structures are thought to result from Late Eocene emplacement of the Dent Blanche nappe and the Combin zone onto the Middle Pennine Barrhorn series along the Combin fault. As related structures initiated during mildly blueschist facies conditions in the Dent Blanche nappe and the underlying Combin zone and both were emplaced together onto the greenschist facial Barrhorn series, it is concluded that the structures developed as the nappes moved upward relative to the earth's surface. Thus the Combin fault is regarded as a thrust. The geometry of this structure indicates that the Combin fault is an out of sequence thrust that locally cut down section. Hence, top NW out of sequence thrusting caused local thinning of the metamorphic/structural section in association with horizontal shortening. Out of sequence thrusts cutting down section, and backthrusts, offer the possibility of explaining the pronounced break in the grade of metamorphism across the Combin fault, i.e. the contact between the eclogite facial Zermatt-Saas zone and the overlying lower grade Combin zone, by contractional deformation.     

Lung subcellular fractions and surfactant lipid metabolism of rats exposed with DDT or endosulfan intratracheally

The effect of intratracheally administered DDT (5 mg/100 g body weight) or endosulfan (1 mg/100 g body weight) for three consecutive days has been studied on lipid metabolism of rat lung subcellular fractions. Both the insecticides did not affect the lung weight and the protein contents of microsomes, lamellar bodies and surfactant but significantly increased the phospholipid contents of microsomal and surfactant system. Most of the neutral lipid components of lung subcellular fractions were also increased by DDT or endosulfan treatments, except that of surfactant triglycerides which were decreased by DDT treatment. DDT or endosulfan both increased the incorporation of radioactive [methyl-3H]choline into microsomal phosphatidylcholine (PC) and surfactant dipalmitoylphosphatidylcholine (DPPC) without affecting the incorporation of radioactive [methyl-14C]methionine, showing the increased synthesis of PC via CDPcholine pathway. The results presented in this communication showed that DDT and endosulfan, the two different chloroinsecticides have similar effects on microsomal lipid metabolism but produce different biochemical manifestations on the secretion of surfactant phospholipids.     

Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)

We report on a fetus and a newborn, both with partial trisomy 7q21→qter due to different familial translocations, t(7;21)(q21.2;p12) and t(4;7)(q35;q21.2). Postmortem examination of the 19-week-old female fetus disclosed dysmorphic features, cleft palate, anomalies of the great vessels, intestinal malrotation and uterus bicornis. The newborn girl revealed a pattern of minor anomalies, cleft palate, cerebellar hypoplasia, and anomalies of pancreas, gall bladder and appendix. The clinical findings in three other reported fetuses with partial trisomy 7q described so far are reviewed. A duplication 7q21→qter, as found in the propositi, has only been described in 11 patients who all had a concurrent partial monosomy. Patient 1 is particularly interesting since she is, to our knowledge, the first reported case with pure trisomy 7q21/22→qter. We reviewed the phenotype of the previously described patients, compared it with the propositae, and summarized the clinical features of pure trisomy 7q21/22→qter. Copyright © 2001 John Wiley & Sons, Ltd.     

Utilization of Broken Rice for the Production of Poly(3-hydroxybutyrate)

The feasibility of utilizing non edible rice (broken rice) for production of fine materials such as poly(3-hydroxybutyrate) (PHB) was considered as one of the alternative ways of keeping the environment clean for sustainable development. Thus, production of PHB from broken rice by simultaneous saccharification and fermentation (SSF) was investigated. During the SSF process, the rice (15% w/v) material was hydrolyzed to glucose, which was utilized by Cupriavidus necator for growth and production of PHB. The PHB content reached 38% at 58 h fermentation. The PHB had weight average molar mass (Mw) and polydipersity index of 3.82 × 10⁵ (g/mol) and 4.15, respectively. Differential calorimetric scan of the PHB showed a melting temperature (Tm) of 176 °C. Given that the PHB was a homopolymer (which consisted of (R)-3-hydroxybutyric acid monomers), it was thought that broken rice could be a raw material for production of both PHB and (R)-3-hydroxybutyric acid. This SSF process would not only help in the utilization of broken rice or non edible rice, but would also serve as a model for utilization of other raw materials that contain starch for production of PHB.     

Risk assessment of PBDEs and PAHs in house dust in Kocaeli,Turkey: levels and sources

Indoor dust samples were collected from 40 homes in Kocaeli, Turkey and were analyzed simultaneously for 14 polybrominated diphenyl ethers (PBDEs) and 16 poly aromatic hydrocarbons (PAHs) isomers. The total concentrations of PBDEs (Σ₁₄PBDEs) ranged from 29.32 to 4790 ng g^?1, with a median of 316.1 ng g^?1, while the total indoor dust concentrations of 16 PAHs (Σ₁₆PAHs) extending over three to four orders of magnitude ranged from 85.91 to 40,359 ng g^?1 with a median value of 2489 ng g^?1. Although deca-PBDE products (BDE-209) were the principal source of PBDEs contamination in the homes (median, 138.3 ng g^?1), the correlation in the homes was indicative of similar sources for both the commercial penta and deca-PBDE formulas. The PAHs diagnostic ratios indicated that the main sources of PAHs measured in the indoor samples could be coal/biomass combustion, smoking, and cooking emissions. For children and adults, the contributions to ∑₁₄PBDEs exposure were approximately 93 and 25 % for the ingestion of indoor dust, and 7 and 75 % for dermal contact. Exposure to ∑₁₆PAHs through dermal contact was the dominant route for both children (90.6 %) and adults (99.7 %). For both groups, exposure by way of inhalation of indoor dust contaminated with PBDEs and PAHs was negligible. The hazard index (HI) values for BDE-47, BDE-99, BDE-153, and BDE-209 were lower than the safe limit of 1, and this result suggested that none of the population groups would be likely to experience potential health risk due to exposure to PBDEs from indoor dust in the study area. Considering only ingestion + dermal contact, the carcinogenic risk levels of both B2 PAHs and BDE-209 for adults were 6.2 × 10^?5 in the US EPA safe limit range while those for children were 5.6 × 10^?4 and slightly higher than the US EPA safe limit range (1 × 10^?6 and 1 × 10^?4). Certain precautions should be considered for children.     

Phytoextraction potential of Sporobulus pyramidalis found in an abandoned battery industry environment in Nigeria

The levels of heavy metals (Cd, Cr, Ni, Pb, Sb and V) in Sporobulus pyramidalis plant species from an abandoned battery industry environment were determined during the wet and dry seasons as follows: The ranges in metal concentrations during the wet and dry seasons were 0.002, 0.420, 0.036 and 36.10?µg?g^?1, respectively. The coefficients of variation for the metals during wet and dry seasons ranged between none to 151.724% and 13.838–214.935%, respectively. The results showed higher levels of the metals in S. pyramidalis during the dry than wet season. Results obtained from both wet and dry season when compared with background values, Federal Environmental Protection Agency and other international standards revealed that the plant species accumulated high levels of these heavy metals which was evident in concentrations exceeding maximum tolerable limits. The health implications of consuming this plant and any other plant or crop within this environment are discussed.