Increased prevalence of Mediterranean and Muslim populations in mutation-related research literature

This paper assesses the prevalence of 569 population groups in mutation-related research literature by means of prevalence scores, calculated on the basis of a systematic search of the PubMed database. The main finding is that Mediterranean and Muslim populations are mentioned more often than other groups. The observed overrepresentation is attributed to the pervasiveness of hemoglobin disorders in these populations, the early decoding of hemoglobin and the relative commonness of consanguineous marriage in some of these populations. The paper points at potential benefits as well as predicaments that the intensive targeting of these populations for mutation research may entail.     

Endogamy, consanguinity and community disease profiles

Considerable attention is paid to the role of consanguineous marriage as a causative factor in the prevalence of genetic disorders. At the same time, the potential influence of community endogamy on overall levels of homozygosity and disease profiles remains largely under-investigated. With the ongoing global epidemiological transition from infectious to non-communicable disease, the impact of genetic disorders will become increasingly important and a thorough understanding of the determinants of human population-genetic structure will be all the more necessary. In particular, the genetic components of adult-onset diseases will become more obvious and assume greater significance. Similarly, refinements of study design to incorporate intercommunity genetic variation appear to be an essential prerequisite in pharmacogenetic research if the concept of individualized treatments is to achieve reality, with equivalent subject-control comparison difficulties also predicted in forensic genetics.     

The burden of genetic disorders in India and a framework for community control

With a very large population and high birth rate, and consanguineous marriage favoured in many communities, there is a high prevalence of genetic disorders in India. An estimated 495,000 infants with congenital malformations, 390,000 with G6PD deficiency, 21,400 with Down syndrome, 9,000 with beta-thalassaemia, 5,200 with sickle cell disease, and 9,760 with amino acid disorders are born each year. The prevalence of late-onset multi-factorial disorders (including coronary artery disease, hypertension and psychiatric disorders) is also large. Due to inadequate diagnostic, management and rehabilitation facilities, the burden of these disorders is greater than in Western countries. Although genetic diseases receive little attention from the health services, research funding by the government has been liberal. Community control of common disorders like thalassaemia, Down syndrome, neural tube defects, and muscular dystrophies deserves high priority, and genetic services should be integrated into the existing primary health care and medical services. Most genetic counselling would have to be provided through training physicians who staff the district and medical school hospitals. To ensure future progress, there is a need to establish additional departments of medical genetics in medical schools.     

The emergence of biobanks: practical design considerations for large population-based studies of gene-environment interactions

The completion of the human genome project has spurred new thinking about launching large-scale cohort studies; as proposed, these studies will differ from past large-scale cohort studies and will focus primarily on how genetic variation interacts with environmental exposures to affect the risk for common human diseases. There is no single 'best design' for large-scale studies of gene-environment interactions. Some studies are best performed in cohort studies where unbiased information can be collected on individuals years before disease onset. Other studies may be most efficiently done with a case-control design using currently available automated data. Population-based biobanks with nested case-control or case-cohort studies offer distinct advantages to some of the resource-intensive large-scale cohort studies under consideration, and may be more acceptable to many of the countries around the world currently considering such projects.     

Scaling of damping induced by bubbly flow across tubes

The damping of tubes subjected to two-phase air–water bubbly cross-flow is investigated with the use of an experimental database from several authors. A new definition of damping in stagnant flow is proposed using an extrapolation of the measured values at low dimensionless flow velocities. This approach yields values of damping substantially lower than those currently defined in the literature. They are found to vary continuously with void fraction, within the bubbly flow regime. These data are used to compare several models of the equivalent viscosity of a two-phase mixture. The effect of the flow velocity is then analysed up to fluidelastic instability. It is observed that, using scaling factors based on the characteristics of the liquid phase, fluidelastic effects of bubbly flows are closely related to those known in single-phase flows.     

Genetic counselling: evolution or involution?

The need for genetic counselling derives from the peculiarities of genetic information, as compared to other biomedical tests, with particular reference to (a) its predictive character; (b) the existing gap between the ability to diagnose and to treat an inherited disorder, and (c) the psychological, social and ethical problems that genetic testing can raise. Counselling is traditionally performed by healthcare professionals, specifically trained to help individuals to develop ways of dealing with genetic information and gain a better understanding of the problems related with it. The growing number of genetic tests (for rare Mendelian as well as for common disorders), the development of easier and cheaper molecular techniques, the increasing tendency of physicians to have recourse to genetic tests, by-passing alternative diagnostic procedures, are all factors that contribute to the vast increase in the demand for genetic tests, a demand which is significantly out of step with the available numbers of trained counsellors. This paper discusses possible solutions, including the institution of committees with regulatory powers on genetic testing, the promotion of studies on models of genetic services, on programmes to monitor the services currently offered by test providers, and the expansion of training programmes and of employment opportunities for genetic counsellors.     

Measurements of air entrainment by vertical plunging liquid jets

This paper addresses the issue of the air-entrainment process by a vertical plunging liquid jet. A non-dimensional physical analysis, inspired by the literature on the stability of free jets submitted to an aerodynamic interaction, was developed and yielded two correlation equations for the laminar and the turbulent plunging jets. These correlation equations allow the volumetric flow rate of the air carryunder represented by the Weber number of entrainment We _n to be predicted. The plunging jets under consideration issued from circular tubes long enough to achieve a fully developed flow at the outlet. A sensitive technique based on a rising soap meniscus was developed to measure directly the volumetric flow rate of the air carryunder. Our data are compared with other experimental data available in the literature; they also stand as a possible database for future theoretical modelling. Received: 2 November 2000/Accepted: 13 November 2001     

Vibrational analysis for surge precursor definition in gas turbines

Compressor behaviour analysis in critical working conditions, such as incipient surge, represents a significant aspect in the turbomachinery research field. Turbines connected with large-size volumes present critical issues related to surge prevention especially during transient operations. Investigations based on acoustic and vibrational measurements appear to provide an interesting diagnostic and predictive solution by adopting suitable quantifiers calculated from microphone and accelerometer signals. For this scope a wide experimental activity has been conducted on a T100 microturbine connected with different volume sizes. A machine dynamical characterisation has been useful for better interpretation of signals during its transient to the surge. Hence, different possible methods of incipient surge identification have been developed through the use of different signal processing techniques in time, frequency and angle domain. These results will be useful for control system development to prevent compressor failures.

     

Preventing congenital anomalies in developing countries

The birth prevalence of congenital anomalies in developing countries is similar to that observed in developed countries. However, the health impact of birth defects is higher because of a lack of adequate services for the care of affected infants and a higher rate of exposures to infections and malnutrition. A number of successful measures for the prevention of congenital anomalies are being taken in a number of developing nations. Primary prevention programs are based on public education about preconceptional and prenatal risks. Prevention based on reproduction options includes teratogen information services and prenatal screening for fetal anomalies. In addition, programs for the detection of congenital malformations at birth, followed by early treatment, are contributing to secondary prevention. Prevention of congenital anomalies in the developing world requires: (a) good epidemiological data on the prevalence and types of birth defects and genetic disorders; (b) educating health professionals in the goals and methods of preventing birth defects at low cost but with high impact, and (c) expansion of family planning and improvement of antenatal care combined with educational campaigns to avoid the risks for birth defects. The basis for public health preventive measures should be the primary health care level. In a sizable proportion of developing countries, the stage is already set for these measures to be implemented. Required are education, political will, and proper organization and allocation of resources.     

Prevalence of eNOS Glu298Asp polymorphism in healthy volunteers from a region of Northern India

OBJECTIVE: Endothelial nitric oxide synthase (eNOS) Glu298Asp polymorphisms are under extensive study worldwide due to their suggested role in cardiovascular disorders. This polymorphism had gained more attention since several reports suggest its association with hypertension and coronary artery disease (CAD). Asian Indians are highly susceptible to ischemic heart dis eases. We determined the prevalence of eNOS Glu298 Asp polymorphism in 139 healthy volunteers from Delhi and the surrounding areas. The subjects were recruited from those who willingly participated in this study in response to a publicized call and a standard questionnaire. Male to female ratio was 2.7:1 due to the larger number of male participants in this investigation. This, however, does not represent normal male to female distribution in the area. Despite the male bias, this investigation was justified. The prevalence of CAD in males is about 3 times higher in this region and no data had so far been available on the distribution of this polymorphism from India. METHOD: The eNOS Glu298Asp polymorphism was studied by PCR-RFLP. RESULTS: Distribution of genotype GG, GT and TT in the study subjects was found to be 71.22, 28.06 and 0.72%, respectively, and allele frequency was G,0.853;T,0.147. CONCLUSION: T allele had been described as susceptibility allele for CAD in several population studies. The frequency of the T allele was found to be two times higher in our subjects than that reported for Japanese and Korean populations. This study does not provide any direct evidence for eNOS gene disease associations but is the first report on the prevalence of eNOS Glu298Asp gene polymorphism in Indian subjects. Whether the observed pattern of eNOS Glu298Asp polymorphism contributes to the greater susceptibility of Asian Indians to CAD as compared to the other population groups, needs to be investigated.     

微重力条件下气/液两相流流型的研究进展

气／液两相流流型是两相流研究领域最基本的课题之一,至今已有数十年的研究历史．但是,由于气／液两相流动现象极为复杂,目前还没有得到一致的结论．近十多年来,利用微重力环境减弱甚至完全消除重力的影响,简化流动中各种不同因素间的相互作用及流型特征,大大促进了对气／液两相流动特征及流型产生与转换机理的研究．同时,微重力条件下的气／液两相流动是空间技术领域必须解决的关键技术问题之一,具有重要的学术意义和重大的应用价值．本文简要总结了微重力条件下气／液两相流流型研究的基本方法以及实验结果和理论进展,指出今后研究中应该注意的一些方向．      

Assessment of a 3D CFD model for GDI spray impact against wall through experiments based on different optical techniques

Performance of internal combustion engines is well known being greatly affected by the air-fuel mixture formation process. In spark ignition engines, in particular, the gasoline direct injection (GDI) technology is currently preferred, as it allows obtaining the desired air-to-fuel ratio distribution at each regime of operation, either by creating stoichiometric mixtures under high power demands, or through charge stratification around the spark plug at intermediate or lower loads. The impact of the gasoline spray on the piston or cylinder walls is a key factor, especially under the so-called wall-guided mixture formation mode. The impact causes droplets rebound and/or the deposition of a liquid film (wallfilm). After being rebounded, droplets undergo what is called secondary atomization. The wallfilm, on the other hand, may remain of no negligible size and evaporate slowly, leading to increased unburned hydrocarbons and particulate matter emissions.Optimization of the heterogeneous mixture behavior in GDI engines is fundamental for guaranteeing high energetic and environmental performance over the whole working map. Computational fluid dynamics (CFD) can be useful in this perspective to effect proper choices of control strategies. Assessment of predictive engine models, able to describe the complex phenomena underlying energy conversion in modern engines, is therefore mandatory to the scope.In the present paper, a basic study is performed on gasoline sprays issuing from high pressure injectors under controlled conditions: the experimental characterization of multi-hole and single-hole GDI sprays in their impact over a plate is carried out with the aim of creating a set of data to be used for the validation of a properly developed simulation model. The multi-hole spray allows accounting for the jet-to-jet interaction and represents a condition closer to the actual gasoline supply mode in present GDI engines. The single-hole injector configuration is instead preferred for a more detailed study, as it allows capturing effects related to the role that diverse parameters characterizing the liquid droplet dynamics play during and after their impingement on heated solid surfaces. The CFD model is conceived with the scope of its future application within numerical calculations of entire engine working cycles. A highly portable free spray sub-model allows correctly reproducing the injection dynamics under different conditions in a confined vessel, while the spray-wall impingement sub-model is shown being able to highlight to an acceptable extent the gasoline splashing and deposition phenomena.     

Thermo-hydraulic characterization of a louvered fin and flat tube heat exchanger

In the present study, a whole heat exchanger with a hydraulic diameter of 2.3 mm is tested, which is a minichannel heat exchanger according to the Kandlikar classification. This is a louvered fin and flat tube heat exchanger currently used in car cooling systems, also known as radiator. A glycol-water mixture (60/40 in volume) circulates through the tubes at flows ranging from 100 to 7800 l/h and at a supply temperature of 90 °C. This fluid is cooled with ambient air at a temperature of 20 °C and at frontal air velocities varying between 0.5 and 7 m/s. The thermohydraulic performance of the heat exchanger is compared with the classical correlations given in the literature for the heat transfer and the friction factor calculation. On the glycol-water side the heat exchanger is characterized for Reynolds numbers from 30 to 8000. A first comparison is carried out with the correlations available in the literature with a purely predictive model by obtaining a predictive value with a systematic under prediction lower than 10%. In a second step a semi-empirical model is considered to identify the experimental heat transfer coefficients for this application.     

Large plastic strains in the problem of high-speed loading of an aluminum ribbon

A method for numerical simulation of the motion of the plane liner in a magnetic compressor based on a combination of the transverse and longitudinal two-dimensional models is proposed. The method permits modeling the interaction of the liner ribbon with the rigid basement for the liner kinematic characteristics close to the experimental ones. Three different model are considered to justify the choice of the mathematical model of an elastoplastic body which would be suitable for solving similar problems. A series of computations is performed, and the results and scope of each of the models are analyzed.     

Campaign to control genetic blood diseases in Bahrain

Genetic blood diseases are frequent in Bahrain as in all Middle Eastern countries. Previous neonatal screening in 1984-1985 showed that the birth prevalence of sickle cell disease (SCD) was 2.1%, of sickle cell trait 11% and of glucose-6-phosphate dehydrogenase (G6PD) deficiency 25%. The Ministry of Health recognized the importance of controlling these diseases. In 1984, the first genetic clinic was established, which started the educational campaigns. Information booklets were prepared and distributed widely in schools and clubs in an attempt to increase awareness about these diseases among students and the public. In 1991, the Bahrain Hereditary Anemia Society was formed. In 1992, the Minister of Health formed a national committee for the prevention of genetic diseases in Bahrain. Screening of all pregnant women began, followed by newborn testing if the mother was found to be a carrier. In 1993, a premarital counseling (PMC) service was organized and in 1998, a student-screening project began. At this stage, we want to update the national birth prevalence figure by screening Bahraini newborns for these genetic diseases. This will help to design prevention programs and to measure the effect of health education on the previous birth prevalence figure. SUBJECTS AND METHODS: A newborn screening study was conducted to determine the effects of this long-term campaign (16-18 years). Cord blood samples from 2,000 Bahraini newborns were tested for hemoglobinopathies and G6PD deficiency using HPLC. RESULTS: 18 newborns were found to have SCD. The new birth prevalence figure for SCD in Bahrain is 0.9%, which indicates a 60% decline in the birth prevalence rate. CONCLUSION: With the continuation of education, awareness campaigns, screening of carriers and PMC, we expect the number of affected children born to be reduced tremendously over the next few years.     

A continuum theory of structural change

Summary A comprehensive treatment of structural change (excluding the effects of induced anisotropy) is given which admits changes, and the associated variation of mechanical properties, from a variety of different influences. The treatment can accommodate the simultaneous effect of various influences and gives wider meaning and scope to the commonly used term thixotropy. A specific example of thixo-viscoelasticity is described in some detail. Most non dilute polymeric and solid-liquid systems can be expected to show some degree of thixotropy.     

United Arab Emirates: communities and community genetics

The UAE society is cosmopolitan, but the indigenous inhabitants are traditional with puritanical values despite their exposure to other vastly different cultures and habits. Marriages between consanguineous couples are still the norm rather than the exception. As a result, there is a high frequency of genetic disorders, particularly autosomal recessive types. Despite the high frequency of genetic disorders like haemoglobinopathies and others characteristically found in this population, genetic services are inadequate. Screening for certain disorders like thalassaemia are not applied on a wide scale. Abortion is illegal, and therefore, prenatal diagnosis or preconception tests are not done. With the absence of a good national database, deficiency of genetic services and absence of preventative alternatives for carrier couples, genetic counsellors find it difficult to advice pragmatic solutions to issues relating to genetic diseases. This paper reviews common genetic problems in the UAE with special emphasis on available genetic services and support to families with children with inherited disorders. Existing barriers to the improvement of clinical services by prenatal counselling are also discussed.     

Theoretical and practical aspects of the ride dynamics of off-road vehicles — Part 1

Recent work on the ride vibration behaviour of off-road vehicles is reviewed. The contributions to this subject presented at the 8th ISTVS Conference in Cambridge, 1984, form the main part of the review, but these are discussed in the context of other developments which have been presented recently. It is concluded that ride vibration studies have entered a period in which refinement and optimisation are the main goals. The basic techniques of mathematical modelling and measurement procedures are well understood at most of the major research and manufacturing centres of off-road vvehicles. In the military industry, further improvements in suspension design and ride quality are evolving gradually as a result of detailed refinements. In the agricultural industry, some major decisions still remain. There is little further scope for improvement of the unsprung tractor with passive seat suspension, and so the next improvements will come from active seat suspensions, cab suspensions or axle suspensions. Although work continues in all these areas, axle suspensions currently offer the most potential.     

Status of prediction methods for critical heat fluxes in mini and microchannels

Saturated critical heat flux (CHF) is an important issue during flow boiling in mini and microchannels. To determine the best prediction method available in the literature, 2996 data points from 19 different laboratories have been collected since 1958. The database includes nine different fluids (R-134a, R-245fa, R-236fa, R-123, R-32, R-113, nitrogen, CO₂ and water) for a wide range of experimental conditions. This database has been compared to 6 different correlations and 1 theoretically based model. For predicting the non-aqueous fluids, the theoretical model by Revellin and Thome [Revellin, R., Thome, J.R., 2008. A theoretical model for the prediction of the critical heat flux in heated microchannels. Int. J. Heat Mass Transfer 51, 1216–1225] is the best method. It predicts 86% of the CHF data for non-aqueous fluids within a 30% error band. The data for water are best predicted by the correlation by Zhang et al. [Zhang, W., Hibiki, T., Mishima, K., Mi, Y., 2006. Correlation of critical heat flux for flow boiling of water in minichannels. Int. J. Heat Mass Transfer 49, 1058–1072]. This method predicts 83% of the CHF data for water within a 30% error band. Some suggestions have also been proposed in this paper for the future studies.