Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

Bardet-Biedl syndrome is a rare ciliopathy characterized by retinal dystrophy, obesity, intellectual disability, polydactyly, hypogonadism and renal impairment. Patients are at high risk of cardiovascular disease. Mutations in BBS1 and BBS10 account for more than half of those with molecular confirmation of the diagnosis. To elucidate genotype-phenotype correlations with respect to cardiovascular risk indicators 50 patients with mutations in BBS1 were compared with 19 patients harbouring BBS10 mutations. All patients had truncating, missense or compound missense/truncating mutations. The effect of genotype and mutation type was analysed. C-reactive protein was higher in those with mutations in BBS10 and homozygous truncating mutations (p = 0.013 and p = 0.002, respectively). Patients with mutations in BBS10 had higher levels of C peptide than those with mutations in BBS1 (p = 0.043). Triglyceride levels were significantly elevated in patients with homozygous truncating mutations (p = 0.048). Gamma glutamyl transferase was higher in patients with homozygous truncating mutations (p = 0.007) and heterozygous missense and truncating mutations (p = 0.002) than those with homozygous missense mutations. The results are compared with clinical cardiovascular risk factors. Patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 and other BBS1 mutations. This could contribute to stratification of the clinical service.

Contributions of σ(B) and PrfA to Listeria monocytogenes salt stress under food relevant conditions.

Listeria monocytogenes is well known to survive and grow under several stress conditions, including salt stress, which is important for growth in certain foods as well as for host infection. To characterize the contributions, to salt stress response, of transcriptional regulators important for stress response and virulence (i.e., σ(B) and PrfA), we analyzed three L. monocytogenes parent strains and isogenic mutants (ΔsigB, ΔprfA, and ΔsigBΔprfA), representing different serotypes and lineages, for their ability to grow, at 25°C, in BHI with 1.9 M NaCl. With regard to growth rate, only the lineage IV strain presented a significant difference between the parent strain and both of its respective mutants lacking prfA (ΔprfA and ΔsigBΔprfA). Conversely, the lineage I and II parent strains showed significantly shorter lag phase in comparison to their respective ΔsigB mutant strains. Intestinal epithelial cell invasion assay and hemolytic activity assays showed a significant role for σ(B) in the former and for PrfA in the latter. To explore the mechanism that may contribute to the extended lag phase in the ΔsigB mutant strain and survival and growth of the parent strain upon salt shock, whole genome transcription profiling was performed to compare transcript levels between the lineage I, serotype 1/2b, parent strain and its isogenic ΔsigB mutant after 30 min of lag phase growth at 25°C in the presence of 1.9M NaCl (salt shock) without aeration. Microarray data showed significantly higher transcript levels for 173 genes in the parent strain as compared to the ΔsigB strain. Overall, 102 of the 173 σ(B) up-regulated genes had been identified in previous studies, indicating that 71 genes were newly identified as being up-regulated by σ(B) in this study. We hypothesize that, among these genes newly identified as σ(B) up-regulated, four genes (lmo2174, lmo0530, lmo0527 and lmo0529) may play a major role in response to salt stress. Lmo2174 contains domains that facilitate sensing and producing a transduction signal in the form of cyclic di-GMP, which may activate the enzymes Lmo0527, Lmo0529 and Lmo0530, which encode proteins similar to those responsible for synthesis of exopolysaccharides that may protect the cell by changing the cell wall structure during salt stress. Overall, our data showed that σ(B), but not PrfA, contributes to growth under salt stress. Moreover, we show that the σ(B) regulon of a L. monocytogenes lineage I strain challenged with salt shock includes salt stress-specific as well as previously unidentified σ(B) up-regulated genes.

Refinement of the Listeria monocytogenes σB regulon through quantitative proteomic analysis.

σ(B) is an alternative σ factor that regulates stress response and virulence genes in the foodborne pathogen Listeria monocytogenes. To gain further insight into σ(B)-dependent regulatory mechanisms in L. monocytogenes, we (i) performed quantitative proteomic comparisons between the L. monocytogenes parent strain 10403S and an isogenic ΔsigB mutant and (ii) conducted a meta-analysis of published microarray studies on the 10403S σ(B) regulon. A total of 134 genes were found to be significantly positively regulated by σ(B) at the transcriptomic level with >75 % of these genes preceded by putative σ(B)-dependent promoters; 21 of these 134 genes were also found to be positively regulated by σ(B) through proteomics. In addition, 15 proteins were only found to be positively regulated by σ(B) through proteomics analyses, including Lmo1349, a putative glycine cleavage system protein. The lmo1349 gene is preceded by a 5' UTR that functions as a glycine riboswitch, which suggests regulation of glycine metabolism by σ(B) in L. monocytogenes. Herein, we propose a model where σ(B) upregulates pathways that facilitate biosynthesis and uptake of glycine, which may then activate this riboswitch. Our data also (i) identified a number of σ(B)-dependent proteins that appear to be encoded by genes that are co-regulated by multiple transcriptional regulators, in particular PrfA, and (ii) found σ(B)-dependent genes and proteins to be overrepresented in the 'energy metabolism' role category, highlighting contributions of the σ(B) regulon to L. monocytogenes energy metabolism as well as a role of PrfA and σ(B) interaction in regulating aspects of energy metabolism in L. monocytogenes.

Measurement of natural radioactivity from soil samples of Sind, Pakistan.

Natural radioactivity has been measured from the soil samples collected from the Sind province of Pakistan. The measured activities of ²²6Ra, ²³²Th and 4°K were found in the range of 18-47, 24-69 and 254-769 Bq kg⁻¹, respectively. The calculated values of the absorbed dose rate in air and the annual effective dose were in the range of 33-87 nGy h⁻¹ and 0.16-0.43 mSv, respectively. The measured results of activity were found compatible with the worldwide findings.

Measurement of radon exhalation rate and soil gas radon concentration in areas of southern Punjab, Pakistan.

Plastic track detectors were used to measure the radon concentration and exhalation rate from the soil samples. The samples were collected from areas of southern Punjab, Pakistan. In a laboratory experiment, passive alpha dosemeters were installed inside cylindrical bottles containing the soil samples. The radon concentrations and the radon exhalation rate were found in the ranges of 34 +/- 7 to 260 +/- 42 Bq m(-3) and 38 +/- 8 to 288 +/- 46 mBq m(-2) h(-1), respectively. The on-site measurements of radon in the soil gas were also carried out in these areas using a scintillation alpha counter. The concentration of radon in the soil gas was found in the range of 423 +/- 82-3565 +/- 438 Bq m(-3).

Natural radioactivity in soil in the Baluchistan province of Pakistan.

The measurements of natural radioactivity and the assessment of radiological hazards in the soil samples of Baluchistan province of Pakistan have been carried out using HPGe detector. The soil gas radon activities in these areas have also been measured using lucas cell technique. The measured activities of (226)Ra, (232)Th and (40)K were found in the range of 15-27, 20-37 and 328-648 Bq kg(-1), respectively. The calculated absorbed dose rate in air and the annual effective dose were in the range of 35-59 nGy h(-1) and 0.17-0.29 mSv, respectively. Radon activity in the soil gas was found in the range of 357-2476 Bq m(-3).

Assessment of radiological hazards due to the presence of natural radionuclides in samples of building materials collected from the northwestern areas of Pakistan.

Brick, sand, marble and cement are mainly used for the construction of dwellings in Pakistan. Therefore, knowledge of the presence of natural radioactivity in these materials is of great importance in order to assess the radiological hazards associated with them. In this context, specific activities of 226Ra, 232Th and 40K were measured in brick, sand, marble and cement samples collected from different localities of the North West Frontier province and federally administered tribal areas, Pakistan, using a P-type coaxial high-purity germanium spectrometer. In brick samples, the average measured activities for 226Ra, 232Th and 40K were 30 +/- 15, 41 +/- 21 and 523 +/- 182 Bq kg(-1), whereas in sand samples, these values were 19 +/- 9, 30 +/- 15 and 769 +/- 461 Bq kg(-1), respectively. In marble samples, the average specific activities of 226Ra, 232Th and 40K were found to be 18 +/- 19, 18 +/- 21 and 299 +/- 328 Bq kg(-1), whilst in cement samples they were 24 +/- 6, 18 +/- 4 and 244 +/- 29 Bq kg(-1), respectively. Radium equivalent activities were also calculated and were found to be 129 +/- 54, 121 +/- 57, 67 +/- 60 and 68 +/- 9 Bq kg(-1) for brick, sand, marble and cement samples, respectively. The annual average effective doses from these samples were 0.37 +/- 0.15, 0.33 +/- 0.15, 0.20 +/- 0.17 and 0.20 +/- 0.03 mSv, respectively. External and internal hazard indices were less than one for all the samples studied.

Measurements of natural radioactivity and radon exhalation rates from different brands of cement used in Pakistan.

The measurement of activity due to the naturally occurring radionuclide has been carried out in different brands of cement available in Pakistan. The gamma spectra of the collected samples were obtained using high-purity germanium detector and analysed for the presence of 232Th, 238U and 40K. The assessment of radiological hazards due to these radionuclides has also been made. The studies concerning the determination of radon-exhalation rates from these samples of cement were also carried out using CR-39 based NRPB radon dosimeters. The range of activity concentrations were found for 226Ra (from 25.10 +/- 1.55 to 52.60 +/- 3.20 Bq kg(-1)), 232Th (from 10.30 +/- 0.65 to 30.40 +/- 1.70 Bq kg(-1)) and 40K (from 17.25 +/- 1.55 to 292.95 +/- 23.05 Bq kg(-1)). The estimated value of radium equivalent concentration was from 11.16 +/- 2.60 to 114.98 +/- 7.11 Bq kg(-1). The calculated absorbed dose rate in air and the annual effective dose were in the range from 18.54 +/- 1.17 to 52.90 +/- 3.31 nGy h(-1) and 0.09 +/- 0.01 to 0.26 +/- 0.02 mSv, respectively. The external and internal hazard indices were in the range from 0.11 +/- 0.01 to 0.31 +/- 0.02 and 0.18 +/- 0.01 to 0.45 +/- 0.03, respectively. The radon exhalation rates from different brands of cement were found in the range from 3.3 +/- 0.7 to 8.1 +/- 1.7 mBq kg(-1) h(-1).

Assessment of the radiological hazards due to naturally occurring radionuclides in soil samples collected from the north western areas of Pakistan.

(226)Ra, (232)Th and (40)K were measured in soil samples, these were collected from different localities of the North West Frontier Province and Federally Administered Tribal Areas, Pakistan. In order to measure the specific activities in these samples P-type coaxial high purity germanium based gamma-ray spectrometer was used. Average values of the measured activities of (226)Ra, (232)Th and (40)K were 26 +/- 11, 39 +/- 17 and 485 +/- 177 Bq kg(-1), respectively. Average radium equivalent activity was found to be 122 +/- 42 Bq kg(-1). External and internal hazard indices were also calculated and found to be 0.33 +/- 0.12 and 0.40 +/- 0.14, respectively. Average effective dose received due to gamma rays was 0.34 +/- 0.12 mSv y(-1). Measured natural radioactivity, hazard indices and effective doses received by the population were found within the recommended limits. The aim of this work was to make a baseline data of natural radioactive elements for the soil of the area and to assess it radiological significance if used as a building material for the construction of houses.

IgE-mediated hypersensitivity reaction to lignocaine - a case report.

We report a 7 year old girl who developed ipsilateral left facial swelling immediately after lignocaine injection. Skin prick test showed positive reaction to pure 2% lignocaine hydrochloride and to lignocaine oral dental gel. Specific Immunoglobulin E (Ig E) to lignocaine was detected. Lignocaine is a commonly used anaesthetic agent mainly as local anaesthesia. However type I hypersensitivity to lignocaine is rare and there have been very few cases reported in the literature.

Atopic sensitization of children with rhinitis in Malaysia.

Atopy is defined as the genetic propensity to develop immunoglobulin E antibodies in response to exposure to allergens and assessed by skin prick test (SPT) responses to common allergens, which may contribute to the development of the clinical disorders (phenotype). Although it is generally agreed that atopy is an important risk factor for allergic diseases such as asthma, rhinitis, and eczema, the extent to which atopy accounts for these diseases is controversial. One hundred forty one children (up to 12 years) were skin prick tested to evaluate 16 foods common to the Malaysian diet and 4 common aeroallergens. Eighty-five percent of patients had positive SPT reactivity. The most commonly implicated aeroallergen and food allergen was house dust mite (HDM) and Prawn. Seventy percent had positive SPT reactivity results to HDM and 24.8% to prawns. Fifty five percent were positive to more than one allergen and 17.7% positive to single aeroallergen. The prevalence of atopy in children with history of eczema was 90%. The incidence of HDM and food allergy especially crabs and prawns, is significantly greater in Malaysian Children with rhinitis symptoms.

Experimental and Monte Carlo simulation studies of open cylindrical radon monitoring device using CR-39 detector.

There are several methods of measuring radon concentrations but nuclear track detector cylindrical dosimeters are widely employed. In this investigation, the consequence of effective volumes of the dosimeters on the registration of alpha tracks in a CR-39 detector was studied. In a series of experiments an optimum radius for a CR-39-based open cylindrical radon dosimeter was found to be about 3 cm. Monte Carlo simulation techniques have been employed to verify the experimental results. In this context, a computer code Monte Carlo simulation dosimetry (MOCSID) was developed. Monte Carlo simulation experiments gave the optimum radius of the dosimeters as 3.0 cm. The experimental results are in good agreement with those obtained by Monte Carlo design calculations. In addition to this, plate-out effects of radon progeny were also studied. It was observed that the contribution of radon progeny (218Po and 214Po) plated-out on the wall of the dosimeters increases with an increase of dosimeter radii and then decrease to 0 at a radius of about 3 cm if a point detector has been installed at the center of the dosimeter base. In the code MOCSID different types of random number generators were employed. The results of this research are very useful for designing an optimum size of radon dosimeters.

Women and the media in South Asia.

PIP: This article gives a brief overview of women's access to journalism and communication training, status of women in the media, their needs for development of skills, and portrayal of women in the media, in Bangladesh, Nepal, Pakistan, India and Sri Lanka. 5 authors from those countries contributed sections subdivided into each of these subheadings. In India, women have access to training, but their positions in the media are limited. They are often falsely stereotyped, sensationalized or exploited, or totally absent. In Sri Lanka, however, women are closer to being equal to men, in terms of training, hiring and employment, although they tend to work in women's periodicals. Women are shown in most of the advertisements, and are generally portrayed as perpetually in pursuit of glamour, food, clothes and cosmetics. Media in Nepal are comparatively new; for example, television is only 1 year old. Therefore, opportunities for women are few, and men dominate the hierarchy. Women are portrayed in the media negatively or sensationally, and used extensively in commercials. Women's position in Pakistan is limited in the cities by purdah and in rural areas by the feudal heritage, in which women are chattel. A minority of women are enrolled in journalism schools a employed in the media: those are excelling. Women are often either idealized, abused or caricatured as interested only in consumption. Women have recently entered the journalism profession in Bangladesh, now totaling 24 women. Mores do not permit women to work at night or on outside assignments. The media are liberal in Bangladesh, airing news about dowry abuse and female oppression openly. In most of the countries, women tend to work only until marriage, or afterward are limited by domestic duties.^ieng