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Comparison of amplification refractory mutation system and polymerase chain reaction-restriction fragment length polymorphism techniques used for the investigation of MEFV gene exon 10 point mutations in familial Mediterranean fever patients living in Cukurova region (Turkey).

Familial Mediterranean fever (FMF) is an autosomal recessive inherited disease characterized by recurrent fever, serositis and arthritis. The disease is highly prevalent in Mediterranean basin populations. Recently, the gene responsible for FMF (MEFV) was cloned and at least 40 MEFV gene mutations have been identified. The most frequently observed mutations in the MEFV gene are M694V, M694I, M680I, and V726A. These occur within exon 10 of the gene, and account for 85% of the known MEFV alleles. In this study, the reliability and economical aspects of amplification refractory mutation system (ARMS) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques were compared for analyzing the frequencies of the major point mutations of 90 unrelated patients with FMF from the Cukurova region in Turkey. Both techniques yielded similar results: The ratio of independent alleles of 90 patients carrying one of the tested mutations was 81.1%; patients consisted of 12 different genotypes. In 64 of 90 patients (71.1%) mutations were observed in both alleles. Thirty-six patients (40%) were homozygous for the same mutation, 28 (31.1%) were heterozygous for different mutations. Eighteen patients (20%) were heterozygous for one allele with one of the four mutations but the other allele was unknown. In 8 patients (8.8%) no mutation could be detected. The most frequently observed mutation was M694V (51.66%), followed by M680I (17.22%), V726A (10.55%), and M694I (1.66%). In conclusion ARMS and PCR-RFLP techniques were equally reliable to detect the mutations in Turkish FMF patients. However, the ARMS technique was found to be more rapid and economical than the PCR-RFLP techniques.

Exons↗

Trafficking: a perspective from Asia.

The main theme of this article is market development and trafficking as a business. It touches upon most of the aspects of the phenomenon, which have been encountered elsewhere, and translates them into the relatively unfamiliar context of many of the Asian and South-East Asian economies. Equally, the literature cited is also probably unfamiliar. Themes touched upon include democratization, inter-state relations, human rights, and scale and perspectives, together with the problems of definitions, theory, and the reliability of data. The directions and characteristics of trafficking flows together with routes and border control are also considered. Coordinated official responses to criminality and criminal organizations, as well as to trafficked individuals, are beginning to emerge. There is a note of caution sounded that contextual and cultural perspectives, particularly on sex workers, must be viewed somewhat differently to those in Western societies. The article concludes that as long as countries in Asia maintain their policies of restrictive immigration, trafficking can be expected to continue and almost certainly increase. This is because accelerating development creates demand for labor at various skill levels and because even in times of recession migrants and brokers will seek to side-step attempts to expel immigrants and restrict access to labor markets. The elimination of trafficking is unlikely to be realistically achieved through legislation and declarations of intent but by improvements in the socioeconomic status of the population.

Asia↗

Number of teeth and risk of root caries.

OBJECTIVE: This study aimed to investigate the association between number of natural teeth and prevalence of root caries. DESIGN: A cross-sectional design was adopted. A stratified multi-stage purposive sampling method was used to select a wide range of elderly people from all social classes, educational levels and sexes. Data was collected through interviews and clinical examinations. SETTING: Urban area in Chiang Mai-Thailand. PARTICIPANTS: 549 elderly dentate aged 60-74 years. MAIN OUTCOME MEASURES: Teeth with decay and filled roots (DF-T). RESULTS: The prevalence of root caries was 18.2% with a mean DF-T of 0.58 (S.D. 2.02). Results of multiple logistic regression showed that number of teeth, DMF-S scores, sex, and socio economic factors were statistically significantly associated with root caries (P < 0.05). Adjusted odds ratios demonstrated a 14% increase in the chance of having root caries when the number of teeth increased one unit. Similarly, a 3% increase was observed for each unit increase in the DMF-S scores (p < 0.001). Being male, having more than four years of education and earning more than 1500 baht/month increased the chances of root caries by 76%, 139% and 85% respectively (p < 0.001). Recession and age were not statistically significantly associated with root caries. CONCLUSIONS: Having more teeth, higher DMF-S scores, earning more than 1500 baht/month, having more than 4 years of education and being male increased the likelihood of having root caries.

Aged↗

Control of the African trypanosomiases with special reference to land use.

There is a need to reassess the role of the trypanosomiases, both human and animal, in African ecology and economy. Withdrawal of control services from the Congo basin was followed by a resurgence of infection from ancient foci, many of them thought to have been extinguished. Successful elimination of Glossina in savanna habitats has sometimes been followed by reinvasion causing massive epizootics. Elsewhere continued recession of the tsetse fly has been followed by cattle population growth which is periodically interrupted by catastrophic pasture famines.Efficiency of control rather than large-scale eradication should be the immediate aim. Efficient control keeps trypanosomiasis at a tolerable level in relation to the competence of medical and veterinary services and ensures that the beneficial effects of disease in maintaining a balance between natural resource potential of the continent and the energy output of its inhabitants, are retained until they can be replaced by new social and economic controls integrated in local cultures.Many ideas about control planning formulated before 1960 are now irrelevant. To provide foundations for a new policy 3 requirements must be fulfilled. The first is to understand the nature of natural foci of infection of trypanosomiasis; the second is to collate knowledge of land-use potentials of the fly-belts; the third is to find a means of integrating information to achieve balanced control programmes. To do this a formal mathematical study of the epidemiology and epizootiology of the trypanosomiases should be initiated.

Agriculture↗

A review of the UK metals recycling industry.

This paper reviews the volatile nature of the price of recycled metals over the past decade and examines legislative and fiscal drivers that have affected the industry. Results from this study have shown that the UK scrap metals markets are presently seeing some of the lowest scrap prices for nearly a decade for both ferrous and non-ferrous metals, in many cases halving in value in less than a year. Scrap metals and other recycled materials prices were high in 1994-96, which have since fallen back to more traditional low levels. World recessions and the steady decline of the UK manufacturing and engineering sectors have effected prices. With tougher new Government legislation, such as the Climate Change Levy and the proposed End of Life Vehicles Directive, small and medium sized scrap merchants are finding it increasingly difficult to compete.

Commerce↗

House subcommittee rejects effort to remove abortion coverage.

On May 12, (1994) a subcommittee of the House Education and Labor Committee voted 16-11 in support of retaining abortion coverage in the President's proposed health care plan. With its vote, the Labor/Management Relations subcommittee rejected an amendment by Representative Ron Klink (D-PA), which would have allowed insurers to cover abortions only in cases of forcible rape or incest, or life endangerment. Two Republican Representatives joined 14 Democrats voting against the amendment, while 3 Democratic Representatives were among the 11 people supporting the Klink amendment. The subcommittee also defeated an amendment introduced by Representative Dick Armey (R-TX), which would have prohibited any language in a health care reform bill from overruling constitutional state laws restricting abortion. 14 subcommittee members voted against the Armey amendment; 11 voted in favor. The subcommittee is not expected to act on a final health care measure before the Memorial Day recess. In related news, a Veterans' Affairs House subcommittee voted 11-8 on May 11 to prohibit the performance of abortions at Department of Veterans' Affairs Hospitals or the coverage of abortion services by VA funds. The amendment was introduced in the Hospitals and Health Care subcommittee by Representative Chris Smith (R-NJ). Neither subcommittee action represents a final decision on abortion coverage in health care reform and none of the 5 Congressional committees considering health reform is expected to finalize their proposals before the Memorial Day recess. The Senate Labor and Human Resources Committee and the House Ways and Means Committee started work on health care reform on May 18. The Senate Finance Committee has only been meeting privately thus far, while neither the full House Education and Labor Committee nor the House Energy and Commerce Committee has met.

Abortion, Induced↗

[Safety profile of 185 ultrasound-guided intra-articular injections for treatment of rheumatic diseases of the hip].

OBJECTIVE: We have developed a standardized technique for intra-articular injection of the hip joint with the purpose of extending routine intra-articular injection of hyaluronans and steroids to the hip, as commonly used in the knee. The purpose of this study was to examine the safety of this technique in an extended series of patients. METHODS: A 7 MHz linear or 3.5 MHz convex transducer was used with a sterilized biopsy guide attached. Intra-articular (IA) injection was performed by inserting into the biopsy guide a 20 gauge needle with the anterosuperior approach. Then, using biopsy real-time guidance software, the needle was advanced into the anterior capsular recess, at the level of the femoral head. RESULTS: The standardised technique was used to inject 97 patients (114 hips) with 185 injections of either steroid/local anaesthetic (10) or hyaluronan (175) over a three-year period. The treatment was well tolerated with few, and exclusively local, side effects. No systemic side effects or joint infections were observed in our study. The colour Doppler vision allowed us to avoid injecting blood vessels. In all cases direct visualization of needle introduction and progression into the articular space was shown by on-screen guidance. Ultrasound guidance is more economic and faster in comparison to the TC or fluoroscopic guidance. Contrary to TC or fluoroscopic techniques ultrasound does not require use of radiations or iodized contrast. CONCLUSION: Our data suggest that the administration of hyaluronans or steroids with ultrasound-guided intra-articular injection is a safe technique for treatment of rheumatic diseases of the hip.

Adrenal Cortex Hormones↗

Autoimmune polyglandular disease type I. Exclusion map using amplifiable multiallelic markers in a microtiter well format.

The pathogenetic background of human autoimmunity is only partially understood. By discovering the defective gene causing the autosomal recessive polyglandular autoimmune disease type I (PGD I, APECED) we hope to provide new insights into autoimmune responses in general. Here we have taken advantage of newly developed amplifiable multiallelic microsatellite markers and performed the analyses using the microtiter well format of the polymerase chain reaction. This rapid semiautomated protocol was applied to analyze 62 assigned highly polymorphic loci. The linkage analyses coupled with the EXCLUDE analysis resulted in an exclusion map of this polyglandular autoimmune disease and in the preliminary assignment of the APECED locus to chromosome 22. The method proved to be an effective and economical tool for gene mapping compared with standard blotting and hybridization.

Alleles↗

The wheat and barley vernalization gene VRN3 is an orthologue of FT.

Winter wheat and barley varieties require an extended exposure to low temperatures to accelerate flowering (vernalization), whereas spring varieties do not have this requirement. In this study, we show that in these species, the vernalization gene VRN3 is linked completely to a gene similar to Arabidopsis FLOWERING LOCUS T (FT). FT induction in the leaves results in a transmissible signal that promotes flowering. Transcript levels of the barley and wheat orthologues, designated as HvFT and TaFT, respectively, are significantly higher in plants homozygous for the dominant Vrn3 alleles (early flowering) than in plants homozygous for the recessive vrn3 alleles (late flowering). In wheat, the dominant Vrn3 allele is associated with the insertion of a retroelement in the TaFT promoter, whereas in barley, mutations in the HvFT first intron differentiate plants with dominant and recessive VRN3 alleles. Winter wheat plants transformed with the TaFT allele carrying the promoter retroelement insertion flowered significantly earlier than nontransgenic plants, supporting the identity between TaFT and VRN-B3. Statistical analyses of flowering times confirmed the presence of significant interactions between vernalization and FT allelic classes in both wheat and barley (P < 0.0001). These interactions were supported further by the observed up-regulation of HvFT transcript levels by vernalization in barley winter plants (P = 0.002). These results confirmed that the wheat and barley FT genes are responsible for natural allelic variation in vernalization requirement, providing additional sources of adaptive diversity to these economically important crops.

Adaptation, Physiological↗

Screening for C283Y gamma-sarcoglycan mutation in a high-risk group of Bulgarian Gypsies: evidence for a geographical localization and a non-random distribution among Gypsy subgroups.

Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive disorder caused by mutations in the gamma-sarcoglycan gene. A 'private' Gypsy C283Y mutation was detected in this gene. Recently, a number of LGMD2C-affected families belonging to a Xoroxane Gypsy group have been detected in eastern Bulgaria and all of these cases were due to the same mutation. We have screened 300 unrelated individuals of reproductive age from this high-risk Xoroxane Gypsy group, settled in Sliven. The genetic test by PCR-SSCP analysis for the C283Y mutation revealed a carrier frequency of 7.7%. The screened sample was ethnically not homogeneous. It was divided in ethnonym groups on the basis of social and economic status, language characteristics and trades. We found that the C283Y was not randomly distributed among the Gypsy subgroups. The disease seemed to be limited to the Xoroxane Gypsy group and geographically localized in eastern Bulgaria.

Journal Article↗

Factor IX gene polymorphisms in Indian population.

Hemophilia B is an X-linked, recessive disorder of hemostasis, caused by a defect in coagulation factor IX. To date, several restriction fragment length polymorphisms (RFLPs) have been identified within the gene for human factor IX. The incidence of these RFLPs differs significantly in different populations. In the present study, we analyzed the heterozygosity frequency and the allele frequency of three common intra- and extragenic polymorphic sites of the factor IX gene in Indian population. The main objective was to test the informativeness of two intragenic markers Dde I and Xmn I and one extragenic marker Hha I for carrier detection and prenatal diagnosis. The method used was polymerase chain reaction (PCR) and RFLP, which is economical yet simple to perform. In Indian population Dde I marker showed an informativeness of 69.0% followed by 38.0% for Hha I and 23.0% for Xmn I. The cumulative informativeness of these three markers was found to be 80 to 82%. A comparison of the heterozygosity rates of these three markers with the other ethnic groups showed that Indian population had almost similar pattern with the Caucasians and American blacks but differed significantly from the Orientals including Japanese, Chinese and Malays.

Deoxyribonucleases, Type II Site-Specific↗

The natural history and the national pre-marital screening program in Saudi Arabia.

The genetic disorders are chronic in nature and, therefore, require continuous support and health care. Consequently, the genetic diseases cause formidable economic and psychosocial burdens on the family with negative reflection on the community at large. The genetic diseases are a heterogeneous group that result in varieties of chronic health ailment as a result of defects in the genetic material. The congenital malformations and some genetic defects may result from exposure to radiation, pharmaceutical drugs, the exposure of the mother during pregnancy to certain infectious diseases, such as rubella, toxoplasma or viruses. It may also result as a side effect of chronic diseases, including diabetes, hypertension or varieties of environmental factors, or both. The other group of genetic diseases are transmitted from parents to the offspring through a specific pattern of inheritance exemplified by recessive genetic disorders. This group includes the sickle cell gene, the thalassemias, the hemophilias, inborn errors of metabolism and red cell enzymopathies. The main etiological factors of genetic diseases and congenital malformations are 1) Genetic defects which are transmitted to offspring through carriers of affected parents. 2) Mutations in the genetic materials due to spontaneous mutations, exposure of the mother during pregnancy to infectious diseases, such as rubella and toxoplasma, receiving certain teratogenic drugs during pregnancy, exposure of the mother to ionizing radiation during pregnancy such as x-ray and chronic diseases of the mother, such as diabetes mellitus. 3) Others such as difficult labor or injury to the baby, during or after labor. This paper reviews the natural history of common blood genetic disorders and the means of prevention and control, focusing on pre-marital screening as a means of prevention.

Congenital Abnormalities↗

Why is the reproductive performance lower in Becker (BMD) as compared to limb girdle (LGMD) muscular dystrophy male patients?

We had previously reported that patients affected with BMD have a significantly reduced reproductive performance (f = 0.12) as compared to male LGMD patients of similar age and physical impairment (f = 0.98). In the present study parameters such as the socio-economic level, as well as psychosocial, intellectual, and psychiatric functionings could not explain the low fitness of BMD patients. The effect of genetic counseling, a greater difficulty in coping with the disease, and relating to women and/or a potential malfunction of reproductive physiology are discussed as possible causes.

Adult↗

Migrant employment and the recession--the case of the Irish in Britain.

"The past decade has witnessed a substantial contraction in the size of the Irishborn community in Britain. This paper uses shift share analysis to assess the extent to which job losses amongst the Irish in Britain over the years 1971-1977 may have induced return migration to Ireland. The article concludes that such 'push' factors are likely to have been relatively weak in comparison to the 'pull' of an Irish economy considerably more buoyant than that of Britain."

Behavior↗

[Sickle cell disease: exotic disease or a Belgian public health problem?].

Sickle cell disease is a genetic disorder involving the haemoglobin designated as haemoglobin S, an autosomic recessive hereditary disease. It is the most frequent hereditary disease in sub-Saharan Africa, however epidemiological studies performed with a systematic neonatal screening in Brussels and Liège have proven that more than one neonate over 2.000 has a sickle cell disease. If this amount is significant, at the level of each physician the number of patient-contacts will be weak. Another aspect of the disease is the variability in its expression: some patients suffer from multiple and chronic organ alterations while other suffer also from acute events which might lead to death if not treated appropriately. The poor experience of each physician, the lack of the disease knowledge by the population, the symptoms complexity, and the socio-economical aspects of sickle cell disease explain that it can be considered as an "exotic" disease but also as a public health problem. A global and dedicated approach of the patient as a whole must be implemented. This is the reason for the existence of the "Réseau des Hémoglobinopathies": http://www.redcellnet.be/.

Africa↗

Genetic dissection of pathotype-specific resistance to ascochyta blight disease in chickpea (Cicer arietinum L.) using microsatellite markers.

Ascochyta blight is an economically important disease of chickpea caused by the fungus Ascochyta rabiei. The fungus shows considerable variation for pathogenicity in nature. However, studies on the genetics of pathotype-specific resistance are not available for this plant-pathosystem. The chickpea landrace ILC 3279 has resistance to pathotype I and II of the pathogen. In order to understand the inheritance of pathotype-specific resistance in this crop, both Mendelian and quantitative trait loci analyses were performed using a set of intraspecific, recombinant inbred lines derived from a cross between the susceptible accession ILC 1272 and the resistant ILC 3279, and microsatellite markers. We identified and mapped a major locus (ar1, mapped on linkage group 2), which confers resistance to pathotype I, and two independent recessive major loci (ar2a, mapped on linkage group 2 and ar2b, mapped on linkage group 4), with complementary gene action conferring resistance to pathotype II. Out of two pathotype II-specific resistance loci, one (ar2a) linked very closely with the pathotype I-specific resistance locus, indicating a clustering of resistance genes in that region of the chickpea genome.

Ascomycota↗

Effects of economy and FDA intervention on the hearing aid industry.

PURPOSE: The purpose of this study was to examine the effects of the economy and the Food and Drug Administration's (FDA) intervention on the hearing aid industry. METHOD: A 3-stage least squares regression technique was used to analyze the hearing aid market. RESULTS: Our results show that, while recessionary periods reduced both demand and supply, the demand side of the hearing aid industry is significantly more responsive to changes in the economy. Further, the demand function within the hearing aid industry is inelastic. Finally, negative media coverage from nationally televised reports during the FDA's intervention between the 2nd quarter of 1993 and the 3rd quarter of 1994 did not significantly affect the market demand of hearing aids. CONCLUSIONS: The demand for hearing aids increases in a flourishing economy and decreases during periods of recession. The negative media campaign from the FDA's intervention between the 2nd quarter of 1993 and the 3rd quarter of 1994 had essentially little effect on the end user. The repercussions of the FDA's intervention have resulted, however, in a reduction in the market supply of hearing aids and an increase in their cost due to manufacturer-sponsored clinical trials.

Commerce↗

Services under siege--the restructuring imperative.

Recent job losses in the U.S. service sector do not reflect a temporary recession. Those jobs are gone, the result of a massive restructuring of the sector that is just getting under way. The explanation for the restructuring is quite simple. Until recently, services have been shielded by regulation and confronted by few foreign competitors. They have allowed their white-collar payrolls to become bloated, their investment in information technology to outstrip the paybacks, and their productivity to stagnate. Now competition is heating up and exposing these inefficiencies. Just as intense competition forced the restructuring of Smokestack America in the 1980s, deregulation and foreign direct investment are shaking out service companies that cannot confront their shortcomings. The need for sweeping change in the service sector may come as a great shock to Americans who saw services as the means to continued economic prosperity. But there is a painful irony at work: job creation, the very thing proponents use to demonstrate the U.S. service sector's strength, is in fact a symptom of the sector's chronic neglect of economic efficiency. It is precisely that neglect that makes the service sector vulnerable as the race for market share intensifies and new players shift the terms of competition. Services must respond to the new competitive environment, but not by indiscriminate cost cutting. Instead, they should balance financial discipline with a comprehensive and immediate reexamination of strategy.

Commerce↗