920 resultados para cultural background


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This study identified the molecular defects underlying three lethal fetal syndromes. Lethal Congenital Contracture Syndrome 1 (LCCS1, MIM 253310) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD, MIM 611890) are fetal motor neuron diseases. They affect the nerve cells that control voluntary muscle movement, and eventually result in severe atrophy of spinal cord motor neurons and fetal immobility. Both LCCS1 and LAAHD are caused by mutations in the GLE1 gene, which encodes for a multifunctional protein involved in posttranscriptional mRNA processing. LCCS2 and LCCS3, two syndromes that are clinically similar to LCCS1, are caused by defective proteins involved in the synthesis of inositol hexakisphosphate (IP6), an essential cofactor of GLE1. This suggests a common mechanism behind these fetal motor neuron diseases, and along with accumulating evidence from genetic studies of more late-onset motor neuron diseases such as Spinal muscular atrophy (SMA) and Amyotrophic lateral sclerosis (ALS), implicates mRNA processing as a common mechanism in motor neuron disease pathogenesis. We also studied gle1-/- zebrafish in order to investigate whether they would be a good model for studying the pathogenesis of LCCS1 and LAAHD. Mutant zebrafish exhibit cell death in their central nervous system at two days post fertilization, and the distribution of mRNA within the cells of mutant zebrafish differs from controls, encouraging further studies. The third lethal fetal syndrome is described in this study for the first time. Cocoon syndrome (MIM 613630) was discovered in a Finnish family with two affected individuals. Its hallmarks are the encasement of the limbs under the skin, and severe craniofacial abnormalities, including the lack of skull bones. We showed that Cocoon syndrome is caused by a mutation in the gene encoding the conserved helix-loop-helix ubiquitous kinase CHUK, also known as IκB kinase α (IKKα). The mutation results in the complete lack of CHUK protein expression. CHUK is a subunit of the IκB kinase enzyme that inhibits NF-κB transcription factors, but in addition, it has an essential, independent role in controlling keratinocyte differentiation, as well as informing morphogenetic events such as limb and skeletal patterning. CHUK also acts as a tumor suppressor, and is frequently inactivated in cancer. This study has brought significant new information about the molecular background of these three lethal fetal syndromes, as well as provided knowledge about the prerequisites of normal human development.

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The aim of this study was to examine the trends, incidence and recidivism of drunken driving during a 20-year period (1988 - 2007) using the data on all suspected drunken driving in this period. Furthermore, the association between social background and drunken driving, and the mortality of drunk drivers were studied by using administrative register data provided by Statistics Finland. The study was completely register-based. In 1989 - 1991, every year 30,000 drivers were suspected of drunken driving, but the number fell to less than 20,000 by 1994, during the economic recession. The changes in the arrest incidence of the youngest age groups were especially pronounced, most of all in the age group of 18 - 19-year olds. Even though the incidence among youth decreased dramatically, their incidence rate was still twice that of the general population aged 15 - 84 years. Drunken driving was associated with a poor social background among youth and working-aged men and women. For example, a low level of education, unemployment, divorce, and parental factors in youth were associated with a higher risk of being arrested for drunken driving. While a low income was related to more drunken driving among working-aged people, the effect among young persons was the opposite. Every third drunk driver got rearrested during a 15-year period, whereas the estimated rearrest rate was 44%. Findings of drugs only or in combination with alcohol increased the risk of rearrest. The highest rearrest rates were seen among drivers who were under the influence of amphetamines or cannabis. Also male gender, young age, high blood alcohol concentration, and arrest during weekdays and in the daytime predicted rearrest. When compared to the general population, arrested drunk drivers had significant excess mortality. The greatest relative differences were seen in alcohol-related causes of death (including alcohol diseases and alcohol poisoning), accidents, suicides and violence. Also mortality due to other than alcohol-related diseases was elevated among drunk drivers. Drunken driving was associated with multiple factors linked to traffic safety, health and social problems. Social marginalization may expose a person to harmful use of alcohol and drunken driving, and the associations are seen already among the youth. Recidivism is common among drunk drivers, and driving under the influence of illicit and/or medicinal drugs is likely to indicate worse substance abuse problems, judging from the high rearrest rates. High alcohol-related mortality in this population shows that drunken driving is clearly an indicator of alcohol abuse. More effective measures of preventing alcohol-related harms are needed, than merely preventing convicted drunk drivers from driving again.

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This study examines Institutional Twinning in Morocco as a case of EU cooperation through the pragmatic, ethical and moral logics of reason in Jürgen Habermas’s discourse ethics. As a former accession tool, Twinning was introduced in 2004 for legal approximation in the context of the European Neighborhood Policy. Twinning is a unique instrument in development cooperation from a legal perspective. With its long historical and cultural ties to Europe, Morocco presents an interesting case study of this new form of cooperation. We will analyse motives behind the Twinning projects on illegal immigration, environment legislation and customs reform. As Twinning is a new policy instrument within the ENP context, there is relatively little preceding research, which, in itself, constitutes a reason to inquire into the subject. While introducing useful categories, the approaches discussing “normative power Europe” do not offer methodological tools precise enough to analyse the motives of the Twinning cooperation from a broad ethical standpoint. Helene Sjursen as well as Esther Barbé and Elisabeth Johansson-Nogués have elaborated on Jürgen Habermas’ discourse ethics in determining the extent of altruism in the ENP in general. Situating the analysis in the process-oriented framework of Critical Theory, discourse ethics provides the methodological framework for our research. The case studies reveal that the context in which they operate affects the pragmatic, ethical and moral aspirations of the actors. The utilitarian notion of profit maximization is quite pronounced both in terms of the number of Twinning projects in the economic sphere and the pragmatic logics of reason instrumental to security and trade-related issues. The historical background as well internal processes, however, contribute to defining areas of mutual interest to the actors as well as the motives Morocco and the EU sometimes described as the external projection of internal values. Through its different aspects, Twinning cooperation portrays the functioning of the pragmatic, ethical and moral logics of reason in international relations.

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The aim of this thesis is to examine migration of educated Dominicans in light of global processes. Current global developments have resulted in increasingly global movements of people, yet people tend to come from certain places in large numbers rather than others. At the same time, international migration is increasingly selective, which shows in the disproportional number of educated migrants. This study discovers individual and societal motivations that explain why young educated Dominicans decide to migrate and return. The theoretical framework of this thesis underlines that migration is a dynamic process rooted in other global developments. Migratory movements should be seen as a result of interacting macro- and microstructures, which are linked by a number of intermediate mechanisms, meso-structures. The way individuals perceive opportunity structures concretises the way global developments mediate to the micro-level. The case of the Dominican Republic shows that there is a diversity of local responses to the world system, as Dominicans have produced their own unique historical responses to global changes. The thesis explains that Dominican migration is importantly conditioned by socioeconomic and educational background. Migration is more accessible for the educated middle class, because of the availability of better resources. Educated migrants also seem less likely to rely on networks to organize their migrations. The role of networks in migration differs by socioeconomic background on the one hand, and by the specific connections each individual has to current and previous migrants on the other hand. The personal and cultural values of the migrant are also pivotal. The central argument of this thesis is that a veritable culture of migration has evolved in the Dominican Republic. The actual economic, political and social circumstances have led many Dominicans to believe that there are better opportunities elsewhere. The globalisation of certain expectations on the one hand, and the development of the specifically Dominican feeling of ‘externalism’ on the other, have for their part given rise to the Dominican culture of migration. The study also suggests that the current Dominican development model encourages migration. Besides global structures, local structures are found to ve pivotal in determining how global processes are materialised in a specific place. The research for this thesis was conducted by using qualitative methodology. The focus of this thesis was on thematic interviews that reveal the subject’s point of view and give a fuller understanding of migration and mobility of the educated. The data was mainly collected during a field research phase in Santo Domingo, the Dominican Republic in December 2009 and January 2010. The principal material consists of ten thematic interviews held with educated Dominican current or former migrants. Four expert interviews, relevant empirical data, theoretical literature and newspaper articles were also comprehensively used.

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This study focuses on the similarities and differences between the Estonian Defence League and the Finnish Civil Guard brass bands during the period 1925-1934. By 1934 this paramilitary volunteer state defence organisation had reached stability in its development, such that social, cultural and patriotic education of the people - with the help of brass band music among other means- had acquired a significant role, in addition to prioritised military and sports activities. The study begins with introductory paragraphs I and II, which describes the founding of the organisations, their participation in the Wars of Independence and their subsequent peace time activities as well as their representation in the media at the time. The thesis also briefly introduces military music in Finland and Estonia, as well as describes the influence of military music on the Defence League brass bands. The period under review includes the global economic crisis, which undoubtedly concerned the Defence League/Civil Guard and the Lapua and War of Independence movements, which greatly affected the apolitical principles of the organisations. The main emphasis of the thesis is the Defence League/Civil Guard brass band`s musical activities in two counties - Etelä-Pohjanmaa and Pärnumaa, while also including a general overview of the Estonian Defence League brass bands´ activities. One of the most important benefits of the thesis is its introduction of the brass band repertoire in use at the time, which was played by both professional and as well as amateur orchestras the latter of which also included the brass bands of the Defence League/Civil Guard and the Fire Services. Brass band music held a secondary, yet significant position in the Defence League/Civil Guard, where the orchestra as a musical grouping was obliged to perform not only at inner-organisational and national celebrations but also at any event requiring brass band music, such as song festivals, singing days, and other local cultural events. The professional preparation of the band conductors at the beginning of the period under review was not well specialised, but the training of the Defence League/Civil Defence brass band conductors was carried out regularly in both republic according to the opportunities and dedicated training programmes available. The musicians of the Defence League/Civil Defence brass bands were at the same time members of the military organisations as well as amateur musicians, which placed upon them extra demands - they were under close public supervision in all situations. Based on the principle of chronology it appeared that both Finnish and Estonian respective organisations´ brass bands used the gradually improving economic situation for purchasing musical instruments, obtaining repertoire and training musicians/conductors. Despite the fact that brass band music in the Defence League/Civil Guard was considered an amateur activity and a hobby, the more far-reaching objective of the organisation was to resemble the Defence Forces´ orchestras as closely as possible in all aspects. The Defence League/Civil Guard brass band music definitely had a significant influence on forming, developing and enriching music life in both republics. The reviewed nine-year period introduced the musical activities of the Defence League/Civil Guard against the background of the everyday life of the organisation and the need for brass band music and its continuity in the voluntary state defence institutions of both republics.

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Citizenship in the everyday of a work community. Immigrants narratives of working life. Through globalisation and the mobility of workforce, citizenship has gained new forms, and the mere legal definition of citizenship no longer gives a comprehensive view of the citizenship of an individual. Also the social, cultural and financial dimensions of it are related to the concept of citizenship. In Finland, full citizenship is promoted, according to the Integration Act and social security system, by the requirement that immigrants should mainly get their livelihood through work. In my study I approach citizenship on four levels: the global, national, work community and private levels. In the study, the global has constituted the largest possible context, which refers to the local affects of global processes. The local and the global come together in the research in that globalisation is realised on the local level, i.e. in small communities such as work communities. The objective of the study is to examine how the citizenship of immigrants who live and work in Finland is constructed in the everyday life of a work community. The most central concept of the study is cultural script, which is based on prevailing forms of knowing, and which are constructed in different ways in different times and cultures. Conflicts of scripts in the working life and difficulties in understanding and applying them are in the centre of the study. In the study, the working life experiences of immigrants are approached through narrative research. The research material consists of the working life narratives of nine immigrants who live and work in Finland permanently. Each interviewee has been interviewed 2 4 times so the research material consists of 26 interviews. The material has been analysed from the points of view of perception, feeling and action. Deborah Tannen s and William Labov s as well as Matti Hyvärinen s method of expectancy analysis to locate cultural scripts has been utilised to organise the research material. In addition, David Herman s concepts of participatory roles and event types formed in narratives have been used in the analysis of the material. The basis in the analysis is that the world, events and experiences do not define the available processes; they are always culturally and individually anchored choices of the speaker and narrator. The most important results of the study are related to the gap between globalisation and everyday life. The discussion about the future need for workforce due to the changing population structure as well as about the benefits for national economy brought by internationalisation has continued in Finland for years. However, the working life narratives of the immigrants interviewed for the study show that an average citizen and member of a work community does not immediately encounter the macro level benefits in, for example, the mobility of workforce. In most of the working life narratives there was a point in speaking and saying, in which the immigrant worker either dares to speak or falls silent. Sometimes the courage to speak was related to language skills but more to the courage to be seen and to be part of a Finnish work community. Other workers that either speak their colleague with an immigrant background into a part of their work community or marginalise the colleague with their silence have an important role in a Finnish work community. In several working life narratives, the script of the Finnish working life and work community, the way to work, was opened to the immigrant and the so-called script exchange did not take place. The study shows that working life experiences and inclusion and exclusion built on the working life have an important role in the construction of active citizenship. The detailed analysis of the working life experience narratives gives new, relevant research data about citizenship as inclusion.

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In order to evaluate the influence of ambient aerosol particles on cloud formation, climate and human health, detailed information about the concentration and composition of ambient aerosol particles is needed. The dura-tion of aerosol formation, growth and removal processes in the atmosphere range from minutes to hours, which highlights the need for high-time-resolution data in order to understand the underlying processes. This thesis focuses on characterization of ambient levels, size distributions and sources of water-soluble organic carbon (WSOC) in ambient aerosols. The results show that in the location of this study typically 50-60 % of organic carbon in fine particles is water-soluble. The amount of WSOC was observed to increase as aerosols age, likely due to further oxidation of organic compounds. In the boreal region the main sources of WSOC were biomass burning during the winter and secondary aerosol formation during the summer. WSOC was mainly attributed to a fine particle mode between 0.1 - 1 μm, although different size distributions were measured for different sources. The WSOC concentrations and size distributions had a clear seasonal variation. Another main focus of this thesis was to test and further develop the high-time-resolution methods for chemical characterization of ambient aerosol particles. The concentrations of the main chemical components (ions, OC, EC) of ambient aerosol particles were measured online during a year-long intensive measurement campaign conducted on the SMEAR III station in Southern Finland. The results were compared to the results of traditional filter collections in order to study sampling artifacts and limitations related to each method. To achieve better a time resolution for the WSOC and ion measurements, a particle-into-liquid sampler (PILS) was coupled with a total organic carbon analyzer (TOC) and two ion chromatographs (IC). The PILS-TOC-IC provided important data about diurnal variations and short-time plumes, which cannot be resolved from the filter samples. In summary, the measurements made for this thesis provide new information on the concentrations, size distribu-tions and sources of WSOC in ambient aerosol particles in the boreal region. The analytical and collection me-thods needed for the online characterization of aerosol chemical composition were further developed in order to provide more reliable high-time-resolution measurements.

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Hostility is a multidimensional construct having wide effects on society. In its different forms, hostility is related to a large array of social and health problems, such as criminality, substance abuse, depression, and cardiovascular risks. Identifying and tackling early-life factors that contribute to hostility may have public health significance. Although the variance in hostility is estimated to be 18-50 percent heritable, there are significant gaps in knowledge regarding the molecular genetics of hostility. It is known that a cold and unsupportive home atmosphere in childhood predicts a child s later hostility. However, the long-term effects of care-giving quality on hostility in adulthood and the role of genes in this association are unclear. The present dissertation is part of the ongoing population-based prospective Young Finns study, which commenced in 1980 with 3596 3-18-year-old boys and girls who were followed for 27 years. The specific aims of the dissertation were first to study the antecedents of hostility by looking at 1) the genetic background, 2) the early environmental predictors, and 3) the gene environment interplay behind hostility. As a second aim, the thesis endeavored to examine 4) the association between hostility and cardiovascular risks, and 5) the moderating effect of demographic factors, such as gender and socioeconomic status, on this association. The study found potential gene polymorphisms from chromosomes 7, 14, 17, and 22 suggestively associated with hostility. Of early environmental influences, breastfeeding and early care-giving were found to predict hostility in adulthood. In addition, a serotonin receptor 2A polymorphism rs6313 moderated the effect of early care-giving on later hostile attitudes. Furthermore, hostility was shown to predict cardiovascular risks, such as metabolic syndrome and inflammation. Finally, parental socioeconomic status was found to moderate the association between anger and early atherosclerosis. The new genetic and early environmental antecedents of hostility identified in this research may help in understanding the development of hostility and its health risks, and in planning appropriate prevention. The significance of early influences on this development is stressed. Although the markers studied are individual- and family-related factors, these may be influenced at the societal level by giving accurate information to all individuals concerned and by improving the societal circumstances.

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Attitudes towards suicide among Master’s degree students in Chang Sha (China) and Helsinki (Finland) were compared in order to explore possible cross-cultural differences. The sample included 206 Master’s degree students, 101 Chinese and 105 Finnish. Data were collected using the 30-item Multi-Attitudes Suicide Tendency Scale (MAST) and a demographic information form. According to the results, both Chinese and Finnish students held positive attitudes towards life, they held contradictory attitudes towards suicide, with Finnish students having more permissive and liberal attitudes towards suicide than their Chinese counterparts. In addition, three socio-demographic characteristics, namely religion, family structure, and economic status, associated with attitudes towards suicide among the Chinese Master’s degree students; meanwhile, all socio-demographic characteristics, including gender, religion, major subject, family structure, economic status, and received social support related to attitudes towards suicide among the Finnish Master’s degree students. However, after examining the interaction effect between socio-demographics and cultural backgrounds on attitudes towards suicide, the attitudes of Chinese students were more related to gender, marital status, family economic status, and received social support, whereas Finnish students were more influenced by religion. These findings suggest that culture plays an important role in shaping country-specific differences in attitudes towards suicide and their association with socio-demographic characteristics. Understanding individual attitudes towards suicide could help in intervention to prevent the development of suicidal ideation and in providing appropriate psychological counseling to reduce mental problems. Therefore, these cross-cultural differences may provide indications on how to conduct suicide prevention programs while considering culture-specific contexts.

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Entrepreneurship, understood as the autonomous, effective pursuit of opportunities regardless of resources, is currently subject to a multitude of interests, expectations, and facilitation efforts. On the one hand, such entrepreneurial agency has broad appeal to individuals in Western market democracies and resonates with their longing for an autonomous, personally tailored, meaningful, and materially rewarding way of life. On the other hand, entrepreneurship represents a tempting and increasingly popular means of governance and policy making, and thus a model for the re-organization of a variety of societal sectors. This study focuses on the diffusion and reception of entrepreneurship discourse in the context of farming and agriculture, where pressures to adopt entrepreneurial orientations have been increasingly pronounced while, on the other hand, the context of farming has historically enjoyed state protection and adhered to principles that seem at odds with aspects of individualistic entrepreneurship discourse . The study presents an interpretation of the psychologically and politically appealing uses of the notion of entrepreneurial agency , reviews the historical and political background of the current situation of farming and agriculture with regard to entrepreneurship, and examines their relationships in four empirical studies. The study follows and develops a social psychological, situated relational approach that guides the qualitative analyses and interpretations of the empirical studies. Interviews with agents from the farm sector aim to stimulate evaluative responses and comments on the idea of entrepreneurship on farms. Analysis of the interview talk, in turn, detects the variety of evaluative responses and argumentative contexts with which the interviewees relate themselves to the entrepreneurship discourse and adopt, use, resist, or reject it. The study shows that despite the pressures towards entrepreneurialism, the diffusion of entrepreneurship discourse and the construction of entrepreneurial agency in farm context encounter many obstacles. These obstacles can be variably related to aspects dealing with the individual agent, the action situation, the characteristics of the action itself, or to the broader social, institutional and cultural context. Many aspects of entrepreneurial agency, such as autonomy, personal initiative and achievement orientation, are nevertheless familiar to farmers and are eagerly related to one s own farming activities. The idea of entrepreneurship is thus rarely rejected outright. The findings highlight the relational and situational preconditions for the construction of entrepreneurial agency in the farm context: When agents demonstrate entrepreneurial agency, they do so by drawing on available and accessed relational resources characteristic of their action context. Likewise, when agents fail or are reluctant to demonstrate entrepreneurial agency, they nevertheless actively account for their situation and demonstrate personal agency by drawing on the relational resources available to them.

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The progressive myoclonic epilepsies (PMEs) are a clinically and etiologically heterogeneous group of symptomatic epilepsies characterized by myoclonus, tonic-clonic seizures, psychomotor regression and ataxia. Different disorders have been classified as PMEs. Of these, the group of neuronal ceroid lipofuscinoses (NCLs) comprise an entity that has onset in childhood, being the most common cause of neurodegeneration in children. The primary aim of this thesis was to dissect the molecular genetic background of patients with childhood onset PME by studying candidate genes and attempting to identify novel PME-associated genes. Another specific aim was to study the primary protein properties of the most recently identified member of the NCL-causing proteins, MFSD8. To dissect the genetic background of a cohort of Turkish patients with childhood onset PME, a screen of the NCL-associated genes PPT1, TPP1, CLN3, CLN5, CLN6, MFSD8, CLN8 and CTSD was performed. Altogether 49 novel mutations were identified, which together with 56 mutations found by collaborators raised the total number of known NCL mutations to 364. Fourteen of the novel mutations affect the recently identified MFSD8 gene, which had originally been identified in a subset of mainly Turkish patients as the underlying cause of CLN7 disease. To investigate the distribution of MFSD8 defects, a total of 211 patients of different ethnic origins were evaluated for mutations in the gene. Altogether 45 patients from nine different countries were provided with a CLN7 molecular diagnosis, denoting the wide geographical occurrence of MFSD8 defects. The mutations are private with only one having been established by a founder-effect in the Roma population from the former Czechoslovakia. All mutations identified except one are associated with the typical clinical picture of variant late-infantile NCL. To address the trafficking properties of MFSD8, lysosomal targeting of the protein was confirmed in both neuronal and non-neuronal cells. The major determinant for this lysosomal sorting was identified to be an N-terminal dileucine based signal (9-EQEPLL-14), recognized by heterotetrameric AP-1 adaptor proteins, suggesting that MFSD8 takes the direct trafficking pathway en route to the lysosomes. Expression studies revealed the neurons as the primary cell-type and the hippocampus and cerebellar granular cell layer as the predominant regions in which MFSD8 is expressed. To identify novel genes associated with childhood onset PME, a single nucleotide polymorphism (SNP) genomewide scan was performed in three small families and 18 sporadic patients followed by homozygosity mapping to determine the candidate loci. One of the families and a sporadic patient were positive for mutations in PLA2G6, a gene that had previously been shown to cause infantile neuroaxonal dystrophy. Application of next-generation sequencing of candidate regions in the remaining two families led to identification of a homozygous missense mutation in USP19 for the first and TXNDC6 for the second family. Analysis of the 18 sporadic cases mapped the best candidate interval in a 1.5 Mb region on chromosome 7q21. Screening of the positional candidate KCTD7 revealed six mutations in seven unrelated families. All patients with mutations in KCTD7 were reported to have early onset PME, rapid disease progression leading to dementia and no pathologic hallmarks. The identification of KCTD7 mutations in nine patients and the clinical delineation of their phenotype establish KCTD7 as a gene for early onset PME. The findings presented in this thesis denote MFSD8 and KCTD7 as genes commonly associated with childhood onset symptomatic epilepsy. The disease-associated role of TXNDC6 awaits verification through identification of additional mutations in patients with similar phenotypes. Completion of the genetic spectrum underlying childhood onset PMEs and understanding of the gene products functions will comprise important steps towards understanding the underlying pathogenetic mechanisms, and will possibly shed light on the general processes of neurodegeneration and nervous system regulation, facilitating the diagnosis, classification and possibly treatment of the affected cases.

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Bad breath or oral malodour can be related to gingival diseases, trimethylaminuria, various inflammation diseases of upper respiratory tract, foreign bodies in nasal cavity etc. Bad breath is usually, in 85 % to 95 % of cases, inflicted by gram negative anaerobic bacteria in tongue coating. These bacteria have a tendency of producing foul-smelling sulphur containing gases called volatile sulphur compounds or VSC. Main cause of bad breath is parodontitis or postnasal drip into posterior part of the tongue. Detecting bad breath is most efficiently done by organoleptic method. By skilled analyser the reason for oral malodour can be determined with great accuracy. For scientific study the most effective method is gas chromatography (GC) with flame photometric detector (FPD). With it almost every component of exhaled air can be detected both quantitative and qualitative. Effective chairside methods include portable sulphur monitors and saliva tests.