Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis

We describe a 4-year-old female child with severe global mental retardation, myoclonic epilepsy, proximal hypotonia and dysmorphisms, whose prenatal diagnosis following amniocentesis revealed a constitutional female karyotype carrying a t(1;15)(q10;p11) familial reciprocal translocation. Post-natal high-resolution karyotype, Fluorescence in situ hybridization (FISH) screening for subtelomeric rearrangements, VNTR search for UPD15 in the blood and fibroblast, and WCP1 and 15 in the mother, failed to provide an explanation for the complex clinical phenotype of the proband. Since the pachytene configuration of the translocated chromosomes defines a high probability of 3:1 segregation, an extensive workup was undertaken to look for a possibly cryptic mosaicism. Four percent of the cells with trisomy 15 was found in the peripheral blood lymphocytes examined by classical cytogenetic technique and interphase FISH analysis. The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed. Copyright © 2006 John Wiley & Sons, Ltd.     

Optimal stabilization of the copper market: The problem of information

This paper investigates the scope for stabilizing commodity prices by buffer stock interventions. Optimal control is used, rather than simulation, to evaluate the scope for intervention at best. Applications to a world copper market model show that substantial but extensive gains to stabilization are possible. These gains cannot be realised by traditional bandwidth decision rules. An important difficulty is setting the level at which prices should be stabilized. The lack of this information severely reduces the achievable gains.     

Characterization of aerosols from biomass burning--a case study from Mizoram (Northeast), India

Physical and optical properties of biomass burning aerosols in Northeastern region, India analyzed based on measurements made during February 2002. Large spatial extent of Northeastern Region moist tropical to moist sub-tropical forests in India have high frequency of burning in annual dry seasons. Characterization of resultant trace gases and aerosols from biomass burning is important for the atmospheric radiative process. Aerosol optical depth (AOD) observed to be high during burning period compared to pre- and post-burning days. Peak period of biomass burning is highly correlated with measured AOD and total columnar water vapor. Size distribution of aerosols showed bimodal size distribution during burning day and unimodal size distribution during pre- and post-burning days. Size distribution retrievals from biomass burning aerosols show dominance of accumulation mode particles. Weighted mean radius is high (0.22 microm) during burning period. Columnar content of aerosols observed to be high during burning period in addition to the drastic reduction of visibility. During the burning day Anderson sampler measurements showed dominance of accumulation mode particles. The diurnal averaged values of surface shortwave aerosol radiative forcing af biomass burning aerosols varies from -59 to -87 Wm(-2) on different days. Measured and modeled solar irradiances are also discussed in the paper.     

Civil society and the state: Turkey after the earthquake

On 17 August 1999 Turkey was hit by a massive earthquake. Over 17,000 lives were lost and there was extensive damage to Turkey's heartland. This paper examines how various public and private institutions, including state and civil society institutions such as NGOs and the media responded to the needs of earthquake survivors. It documents the extensive involvement of NGOs in the relief efforts immediately after the disaster and examines the impact of such participation on state-civil society relations in the country. The data show that state response to the disaster went through several phases from a period of ineptitude to effective management. The paper credits the media and the NGOs for acting as advocates for survivors and forcing changes at the state level. The paper argues that an ideal response system, which fully addresses the needs of victims, can only be based on state-civil society relations that are both collaborative and adversarial.     

Anaerobic treatment of atrazine bearing wastewater.

Performance of mixed microbial anaerobic culture in treating synthetic waste-water with high Chemical Oxygen Demand (COD) and varying atrazine concentration was studied. Performance of hybrid reactors with wood charcoal as adsorbent, with a dose of 10 g/l and 40 g/l, along with the microbial mass was also studied. All the reactors were operated in sequential mode with Hydraulic Retention Time (HRT) of 5 days. In all the cases, COD removal after 5 days was found to be above 81%. Initial COD was above 1,000 mg/l. From a hybrid reactor COD removal after 2 days was observed to be 90%. Atrazine reduction after 5 days by microbial mass alone was 43.8%, 40% and 33.2% with an initial concentration of 0.5, 1.0 and 2.0 mg/l respectively. MLSS on all the cases were almost same. Increasing MLSS concentration by about 2 fold did not increase the atrazine removal efficiency significantly. Maximum atrazine removal was observed to be 64% from the hybrid reactor with 10 g/l of wood charcoal and 69.4% from the reactor with 40 g/l of wood charcoal. Atrazine removal from the hybrid reactors after 15 days were observed to be 35.7% and 38.7%, which showed that the higher dose of wood charcoal in hybrid reactor did not improve the atrazine removal efficiency significantly. Specific methanogenic activity test showed no inhibitory effect of atrazine on methane producing bacteria. The performance of anaerobic microorganisms in removing atrazine with no external carbon source and inorganic nitrogen source was studied in batch mode. With an initial concentration of 1.0 mg/l, reduction of atrazine by the anaerobic microorganisms in absence of external carbon source after 35 days was observed to be 61.8% where as in absence of external carbon and inorganic nitrogen source the reduction was only 44.2% after 150 days. Volatilization loss of atrazine was observed to be insignificant.     

Respiratory problems of workers in the zarda industry in Kolkata, India.

This study was undertaken to assess the pulmonary and respiratory problems of workers in a zarda factory. A total of 70 permanent zarda workers (50 manufacturing workers and 20 office ones) were studied in a factory in Baguihati, Kolkata, India. The study included (a) completion of a questionnaire (on pulmonary and respiratory problems), (b) measurement of physical parameters, (c) spirometry and (d) measurement of peak expiratory flow rate. At the same time, the worksite was analyzed with an OSHA-recommended ergonomics checklist. Many zarda manufacturing workers complained of respiratory symptoms. Continuous exposure to the tobacco processing environment reduced the workers' lung volume and peak expiratory flow rates. Our study indicates that zarda manufacturing workers may have respiratory and pulmonary disorders related to exposure to tobacco dust in their work environment.     

Modified titanium oxide (TiO2) nanocomposites and its array of applications: a review

Titania (TiO₂) has been the focus of attention of researchers since the first demonstration of its capability to generate the photocatalytic splitting of water into hydrogen and oxygen. However, there seems to be a recent surge in the research activity, involving modified TiO₂ nanoparticles (NP), which are considered to be more effective due to different physicochemical properties in comparison to unmodified fine particle analogs. Several strategies have been employed to modify TiO₂ to reduce recombination rates of photogenerated charge carriers to enhance the optimal functioning of TiO₂. Doping with cations and anions and coupling it with another semiconductor are the most well-known modification methods used. Titania nanocomposites are known to have a plethora of applications. Photoexcitation of these particles are seen to be extraordinarily effective in eliciting microbial death which makes it an attractive candidate for the manufacturing of antimicrobial coatings. On the other hand, TiO₂ induces the oxidation of various organic refractory compounds like tetracycline, sulfamethazine, and bisphenol. The photo-electrocatalytic oxidation technique which amalgamates the principle of photocatalysis and electrolysis serves as a newer, unswerving, and cost effective water treatment process. In the biomedical arena, use is now acknowledged for the photodynamic therapy of cancer, cell imaging, biological sensors, drug delivery system, and as endonucleases. In the commercial front, it is utilized in creams owing to its small particle size, which facilitates absorption through skin. It is also employed as ultraviolet blocking agents in sunscreen and commonly encountered as a brilliant white pigment in paint due to its brightness, high refractive index and resistance to discoloration. Its use in solar cells has also been reported. This review aims to encompass the new progress of modified TiO2 nanocomposites for efficient applications, emphasizing the future trends of TiO2 in arenas like healthcare, environment, biomedical, food, personal care, and pharmacy and also highlights the commercial implications of this promising nanomaterial.     

A Cumulative Energy Demand indicator (CED), life cycle based,for industrial waste management decision making

Life cycle thinking is a good approach to be used for environmental decision-support, although the complexity of the Life Cycle Assessment (LCA) studies sometimes prevents their wide use. The purpose of this paper is to show how LCA methodology can be simplified to be more useful for certain applications.In order to improve waste management in Catalonia (Spain), a Cumulative Energy Demand indicator (LCA-based) has been used to obtain four mathematical models to help the government in the decision of preventing or allowing a specific waste from going out of the borders. The conceptual equations and all the subsequent developments and assumptions made to obtain the simplified models are presented.One of the four models is discussed in detail, presenting the final simplified equation to be subsequently used by the government in decision making.The resulting model has been found to be scientifically robust, simple to implement and, above all, fulfilling its purpose: the limitation of waste transport out of Catalonia unless the waste recovery operations are significantly better and justify this transport.