Carrier detection of duchenne muscular dystrophy through analysis of dna from deciduous teeth of a dead affected child

The sister of a child affected by Duchenne muscular dystrophy (DMD) was referred for genetic counselling to assess the risk of her being a carrier. Her brother had died 15 years previously at the age of 8. There were no other affected males in the family. There were no methods for DNA investigation at the time of the child's death and the family had never been studied for linkage with polymorphic probes on the chromosomal region Xp21. The only tissue from which an assessment of the risk could be made by DNA linkage analysis was two of the child's deciduous teeth that the parents had kept. DNA was extracted using a protocol described for the recovery of ancient DNA from museum specimens and archaeological finds. Multiplex amplification did not reveal deletions in 19 exons spanning the hot-spot regions for deletions within the dystrophin gene in Xp21. Linkage analysis using three highly polymorphic microsatellites demonstrated that the sister had not received the X chromosome borne by her brother. These results show that DNA extracted from teeth is a reliable source for molecular diagnosis.     

Normal fetal growth in women with antiphospholipid syndrome treated with high-dose intravenous immunoglobulin (IVIG)

Antiphospholid antibodies are associated with fetal distress and fetal death. Although different therapeutic regimens have been used, the incidence of fetal growth retardation varies between 30 and 60 per cent of reported cases. We report the evolution of fetal growth in patients with antiphospholipid antibody syndrome treated with high-dose intravenous immunoglobulins (IVIG). Fourteen patients with a history of recurrent spontaneous abortion and immunological diagnosis of antiphospholipid syndrome were followed longitudinally. Intravenous immunoglobulin at a dose of 0.5 g/kg body weight for two consecutive days was started from the fifth week of pregnancy and repeated every 4 weeks until the 33rd week of gestation. Fetal biometry was evaluated longitudinally from the appearance of the gestational sac at 4 weekly intervals. In the period between 26 and 34 weeks, the frequency of evaluation was increased to every 14 days. Data obtained were compared with a control group of 70 fetuses with uneventful pregnancies matched for gestational age. Neonatal weight is shown in relation to the centiles for the normal population. One patient out of 14 (7.1 per cent) developed gestational hypertension and abruptio placentae. No other pregnancy complications were seen. No proteinuria was found. The mean maternal age was 31.2±3.8 years. Median birth weight was 3433 g±287. The median centile of the birth weight was 65.3±18.6. Mean gestational age at delivery was 1.3 weeks. No fetal or neonatal growth retardation was seen. No significant differences were found in the biometrical parameters investigated in the various gestational ages vs. the control group (Student's t-test not significant); a significant increase in head circumference (P< 0.001) and abdominal circumference (P< 0.05) was found at 36–37 weeks gestational age in the IVIG-treated fetuses. The presence of antiphospholipid antibodies is considered detrimental for pregnancy outcome because of their negative effects on placental vascular perfusion and fetal transfer of metabolites. The use of IVIG seems to avoid or inhibit the reduced availability of nutrients for the fetal anabolic functions, as the expected reduction in fetal growth was not seen in our series.     

Amiodarone treatment in pregnancy for dilatative cardiomyopathy with ventricular malignant extrasystole and normal maternal and neonatal outcome

Amiodarone treatment in pregnancy might be difficult to handle because of the long half-life of the drug (14–28 days up to 2 months) and because it reduces maternal and neonatal thyroid activity. Although short-term use in pregnancy has been described in cases of fetal supraventricular tachycardia, there are few reports on the chronic use of the drug. In this paper we describe our experience with amiodarone treatment in two pregnant sisters with familial dilatative cardiomyopathy and ventricular malignant extrasystole. Prolonged administration of amiodarone (400–200 mg/die) since the beginning of pregnancy did not have any adverse effects; maternal and neonatal thyroid function was normal, as was the neurological and motor development of the neonates.     

Experimental analysis of Froude number effect on air entrainment in the hydraulic jump

A hydraulic jump is characterized by strong energy dissipation and mixing, large-scale turbulence, air entrainment, waves, and spray. Despite recent pertinent studies, the interaction between air bubbles diffusion and momentum transfer is not completely understood. The objective of this paper is to present experimental results from new measurements performed in a rectangular horizontal flume with partially developed inflow conditions. The vertical distributions of the void fraction and the air bubbles count rate were recorded for inflow Froude number Fr ₁ in the range from 5.2 to 14.3. Rapid detrainment process was observed near the jump toe, whereas the structure of the air diffusion layer was clearly observed over longer distances. These new data were compared with previous data generally collected at lower Froude numbers. The comparison demonstrated that, at a fixed distance from the jump toe, the maximum void fraction C _max increases with the increasing Fr ₁. The vertical locations of the maximum void fraction and bubble count rate were consistent with previous studies. Finally, an empirical correlation between the upper boundary of the air diffusion layer and the distance from the impingement point was derived.     

Atmospheric heavy metals in tropical South America during the past 22,000 years recorded in a high altitude ice core from Sajama, Bolivia

V, Co, Cu, Zn, As, Rb, Sr, Ag, Cd, Ba, Pb, Bi and U have been analysed by inductively coupled plasma sector field mass spectrometry in various sections of a dated snow/ice core drilled at an altitude of 6542 m on the Sajama ice cap in Bolivia. The analysed sections were dated from the Last Glacial Stage ( approximately 22,000 years ago), the Mid-Holocene and the last centuries. The observed variations of crustal enrichment factors (EFc) for the various metals show contrasting situations. For V, Co, Rb, Sr and U, EFc values close to unity are observed for all sections, then showing that these elements are mainly derived from rock and soil dust. For the other metals, clear time trends are observed, with a pronounced increase of EFc values during the 19th and 20th centuries. This increase shows evidence of metal pollution associated with human activity in South America. For Pb an important contribution was from gasoline additives. For metals such as Cu, Zn, Ag and Cd an important contribution was from metal production activities, with a continuous increase of production during the 20th century in countries such as Peru, Chile and Bolivia.     

Removal of pollutants from surface water and groundwater by nanofiltration: overview of possible applications in the drinking water industry

During the last decade, nanofiltration (NF) made a breakthrough in drinking water production for the removal of pollutants. The combination of new standards for drinking water quality and the steady improvement of the nanofiltration process have led to new insights, possible applications and new projects on lab-scale, pilot scale and industrial scale. This paper offers an overview of the applications in the drinking water industry that have already been realised or that are suggested on the basis of lab-scale research. Applications can be found in the treatment of surface water as well as groundwater. The possibility of using NF for the removal of hardness, natural organic material (NOM), micropollutants such as pesticides and VOCs, viruses and bacteria, salinity, nitrates, and arsenic will be discussed. Some of these applications have proven to be reliable and can be considered as known techniques; other applications are still studied on laboratory scale. Modelling is difficult due to effects of fouling and interaction between different components. The current insight in the separation mechanisms will be briefly discussed.     

Response of zooxanthellae in symbiosis with the Mediterranean corals Cladocora caespitosa and Oculina patagonica to elevated temperatures

Scleractinian symbiotic corals living in the Ligurian Sea (NW Mediterranean Sea) have experienced warm summers during the last decade, with temperatures rapidly increasing, within a few days, to 3–4°C above the mean value of 24°C. The effect of elevated temperatures on the photosynthetic efficiency of zooxanthellae in symbiosis with temperate corals has not been well investigated. In this study, the corals, Cladocora caespitosa and Oculina patagonica were collected in the Ligurian Sea (44°N, 9°E), maintained during 2 weeks at the mean summer temperature of 24°C and then exposed during 48 h to temperatures of 24 (control), 27, 29 and 32°C. Chlorophyll (chl) fluorescence parameters [F _v/F _m, electron transport rate (ETR), non-photochemical quenching (NPQ)] were measured using pulse amplitude modulated (PAM) fluorimetry before, during the thermal increase, and after 1 and 7 days of recovery (corals maintained at 24°C). Zooxanthellae showed a broad tolerance to temperature increase, since their density remained unchanged and there was no significant reduction in their maximum quantum yield (F _v/F _m) or ETR up to 29°C. This temperature corresponded to a 5°C increase compared to the mean summer temperature (24°C) in the Ligurian Sea. At 32°C, there was a significant decrease in chl contents for both corals. This decrease was due to a reduction in the chl/zooxanthellae content. For C. caespitosa, there was also a decrease in ETR_max, not associated with a change in F _v/F _m or in the non-photochemical quenching (NPQ); for O. patagonica, both ETR_max and F _v/F _m significantly decreased, and NPQ_max showed a significant increase. Damages to the photosystem II appeared to be reversible in both corals, since F _v/F _m values returned to normal after 1 day at 24°C. Zooxanthellae in symbiosis with the Mediterranean corals investigated can therefore be considered as resistant to short-term increases in temperature, even well above the maximum temperatures experienced by these corals in summer.     

Verification of Wind-Driven Volatilization Models

Mass-transfer processes of paramount importance, such as reaeration and volatilization, occur at the air–water interface. Particularly, volatilization is intensively studied because it can be a relevant removal process for toxic contaminants from flowing and standing surface waters. The paper provides a comparison among predictive equations available from literature for standing waters for the case of MTBE contamination. Most of the considered equations tend to overestimate the volatilization rate, while three equations offer a good fit with the observed data. Finally, these equations are applied to a larger amount of field data.     

New patterns of diurnal vertical migration of some deep-water copepods in the Tyrrhenian and Adriatis Seas

The diel vertical migration of copepods from intermdiate water layers of the Tyrrhenian and Adtiatic Seas has been studied on the basis of plankton samples made from depths down to 1000 m, with a Nansen net, mesh size 250 , diameter 113 cm. The species considered display two different patterns of migration: (1) nocturnal ascent, e.g. Pleuromamma abdominalis and Euchaeta acuta; (2) nocturnal descent, e.g. species of the genera Spinocalanus, Scaphocalanus, Temoropia, Mormonilla and Oncaea. These two patterns are compared on the pasis of the dimensions of the species and of their different capacities for active movement. Ililumination is considered to be the most important factor influencing vertical movements. The behaviour of Pleuromamma gracilis is also described, the adult population of which is divided in two discrete sections, each one showing a different pattern of migration.