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Contains fulltext : 169680.pdf (publisher's version ) (Open Access), Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine. In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the literature. Unfortunately, the quality of the evidence is poor, as it often is for rare diseases. We strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis. Our recommendations may help to standardise testing for pyridoxine responsiveness. Current evidence suggests that patients are unlikely to develop complications if the plasma total homocysteine concentration is maintained below 120 mumol/L. Nevertheless, we recommend keeping the concentration below 100 mumol/L because levels fluctuate and the complications associated with high levels are so serious.

Contains fulltext : 169680.pdf (publisher's version ) (Open Access), Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine. In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the literature. Unfortunately, the quality of the evidence is poor, as it often is for rare diseases. We strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis. Our recommendations may help to standardise testing for pyridoxine responsiveness. Current evidence suggests that patients are unlikely to develop complications if the plasma total homocysteine concentration is maintained below 120 mumol/L. Nevertheless, we recommend keeping the concentration below 100 mumol/L because levels fluctuate and the complications associated with high levels are so serious.

Contains fulltext : 169680.pdf (publisher's version ) (Open Access), Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine. In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the literature. Unfortunately, the quality of the evidence is poor, as it often is for rare diseases. We strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis. Our recommendations may help to standardise testing for pyridoxine responsiveness. Current evidence suggests that patients are unlikely to develop complications if the plasma total homocysteine concentration is maintained below 120 mumol/L. Nevertheless, we recommend keeping the concentration below 100 mumol/L because levels fluctuate and the complications associated with high levels are so serious.

Our aim is to examine how ethnic minority media emerged and became a factor in the development of media landscapes. What media is minority media? How important are societal contexts in different countries or regions? What key factors, forces and processes shape the minority media landscape? What differences and similarities can be identified, and explained? We discuss media produced by or for ethnic minorities, beginning with the foundation of minority language periodicals, and moving on to radio and television programming. We also discuss representation of ethnic minorities in mainstream media, and ethnic diversity - or lack thereof - in media companies. Finally, the emergence of broadcast media led to demands for minority programming, which has gradually expanded in the wake of migration and recognition of national minorities. Minority media, public or private, is vulnerable in times of economic crisis. Digitalization has opened new possibilities. But, the Internet is dominated by majority languages (Cunliff 2007). In the late 19th century Europe technological innovations and favorable conditions created flourishing press markets. Ethnic or nationalistic activists followed suit, founding the first periodicals. However, multiple changes in borders, state formations and central concepts make it difficult to determine which ethnic groups can be seen as minorities. There are no universal definitions of ‘minority’, ‘indigenous people’ or ’migrants’. The concept of ‘minority’ arose in the aftermath of WWI and signing of first minority treaties (Jackson 1998). But, how do we conceptualize ethnic groups in the 19th century multiethnic conglomerate states? Such states either didn’t have ethnic majorities, or people weren’t conceptualized in that manner. We use the term ‘ethnic minority’, to encompass migrants, national minorities and indigenous people. Some ethnic communities changed status from minority to majority, or vice versa. Estonians, Russians and Finns are examp

Our aim is to examine how ethnic minority media emerged and became a factor in the development of media landscapes. What media is minority media? How important are societal contexts in different countries or regions? What key factors, forces and processes shape the minority media landscape? What differences and similarities can be identified, and explained? We discuss media produced by or for ethnic minorities, beginning with the foundation of minority language periodicals, and moving on to radio and television programming. We also discuss representation of ethnic minorities in mainstream media, and ethnic diversity - or lack thereof - in media companies. Finally, the emergence of broadcast media led to demands for minority programming, which has gradually expanded in the wake of migration and recognition of national minorities. Minority media, public or private, is vulnerable in times of economic crisis. Digitalization has opened new possibilities. But, the Internet is dominated by majority languages (Cunliff 2007). In the late 19th century Europe technological innovations and favorable conditions created flourishing press markets. Ethnic or nationalistic activists followed suit, founding the first periodicals. However, multiple changes in borders, state formations and central concepts make it difficult to determine which ethnic groups can be seen as minorities. There are no universal definitions of ‘minority’, ‘indigenous people’ or ’migrants’. The concept of ‘minority’ arose in the aftermath of WWI and signing of first minority treaties (Jackson 1998). But, how do we conceptualize ethnic groups in the 19th century multiethnic conglomerate states? Such states either didn’t have ethnic majorities, or people weren’t conceptualized in that manner. We use the term ‘ethnic minority’, to encompass migrants, national minorities and indigenous people. Some ethnic communities changed status from minority to majority, or vice versa. Estonians, Russians and Finns are examp

Our aim is to examine how ethnic minority media emerged and became a factor in the development of media landscapes. What media is minority media? How important are societal contexts in different countries or regions? What key factors, forces and processes shape the minority media landscape? What differences and similarities can be identified, and explained? We discuss media produced by or for ethnic minorities, beginning with the foundation of minority language periodicals, and moving on to radio and television programming. We also discuss representation of ethnic minorities in mainstream media, and ethnic diversity - or lack thereof - in media companies. Finally, the emergence of broadcast media led to demands for minority programming, which has gradually expanded in the wake of migration and recognition of national minorities. Minority media, public or private, is vulnerable in times of economic crisis. Digitalization has opened new possibilities. But, the Internet is dominated by majority languages (Cunliff 2007). In the late 19th century Europe technological innovations and favorable conditions created flourishing press markets. Ethnic or nationalistic activists followed suit, founding the first periodicals. However, multiple changes in borders, state formations and central concepts make it difficult to determine which ethnic groups can be seen as minorities. There are no universal definitions of ‘minority’, ‘indigenous people’ or ’migrants’. The concept of ‘minority’ arose in the aftermath of WWI and signing of first minority treaties (Jackson 1998). But, how do we conceptualize ethnic groups in the 19th century multiethnic conglomerate states? Such states either didn’t have ethnic majorities, or people weren’t conceptualized in that manner. We use the term ‘ethnic minority’, to encompass migrants, national minorities and indigenous people. Some ethnic communities changed status from minority to majority, or vice versa. Estonians, Russians and Finns are examp