Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. Spaapen LJ, Bakker JA, Velter C, Loots W, Rubio-Gonzalbo ME, Forget PP, Dorland L, De Koning TJ, Poll-The BT, Ploos van Amstel HK, Bekhof J, Blau N, Duran M. Department of Biochemical Genetics, Stichting Klinische Genetica Zuid-Oost Nederland, Maastricht. [email protected] Four neonates with a positive phenylalanine screening test (Phe concentrations between 258 and 1250 micromol/L) were investigated further to differentiate between phenylalanine hydroxylase (PAH) deficiency and variant hyperphenylalaninaemia (HPA) forms. In patients 1 and 2 a tetrahydrobiopterin (BH4) load caused a significant decrease of the plasma Phe levels. A combined phenylalanine/BH4 loading test was performed in patients 2, 3 and 4. In the latter two patients, plasma Phe concentrations completely normalized within 8 h after the BH4 load (20 mg/kg). Basal urinary pterins were normal in all four patients. The activity of dihydropteridine reductase (DHPR) was normal in patients 1, 2 and 3 and 50% of control values in patient 4 (not in the range of DHPR-deficient patients). In patient 3 a subsequent phenylalanine loading test with concomitant analysis of plasma biopterins revealed a normal increase of biopterin, excluding a BH4 biosynthesis defect. Pterins and neurotransmitter metabolites in CSF of patients 1, 3 and 4 were normal. DNA mutations detected in the PAH gene of patients 1-4 were A313T, and L367fsinsC; V190A and R243X; A300S and A403V; R241C and A403V. The results are suggestive for mutant PAH enzymes with decreased affinity for the cofactor BH4

Christmas Tamales in Costa Rica (1900–1930)

Artículo traducido al inglés con la colaboración de Fergus Grealy y Anna Cristina Pertierra.The eating habits of any social group are deeply dependent upon the environment (what it can produce), methods and manners of distribution, the availability of technology (necessary for production), cultural and symbolic factors, and the cultivation of existing resources. In other words, culinary cultures stem from such factors as the nature of ingredients as much as from beliefs and practices (Pilcher 2006, 2). The meaning of food can differ according to socioeconomic group, age, and even gender, and eating habits help to define such aspects of self as ethnic identity or religious devotion. Religions in particular affect eating customs and regulate consumption through ideals of asceticism and conviviality. Meals, in addition to their nutritional value, have a cultural value, which indicates how they are understood by consumers; each society assigns a code of meaning that is shared by the community (Gonzalbo 2006, 217–218). This code typically includes not only the time when meals are eaten but also what is consumed for each of them, the method in which they are prepared, the rituals at the table, and the company of guests.UCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Sociales::Centro de Investigación en Comunicación (CICOM

Mortalidad por homicidios en México: tendencias, variaciones socio-geográficas y factores asociados Deaths by homicide in Mexico: trends, socio-geographical variations and associated factors

Este estudio analiza la tendencia de las tasas de homicidio (total y por arma de fuego) en México entre 1990 y 2009 e identifica las variables que mejor explican las variaciones geográficas de las tasas en el bienio 2008-2009. Se calcularon tasas de homicidios, ajustadas por edad, para ambos sexos entre 1990 y 2009, y para cada estado en 2008-2009. El análisis de regresión lineal múltiple fue usado para identificar factores asociados a las variaciones interestatales de las tasas de homicidio. Los resultados muestran que la tasa de homicidio disminuyó entre 1992 y 2007, pero se ha duplicado en los últimos dos años (de 7.6 a 16.6 por 100,000). En 2009, la tasa de homicidio masculina fue cerca de 9 veces mayor que la tasa femenina y casi dos tercios de los homicidios fueron por arma de fuego. El análisis multivariado revela que la impunidad, el narcotráfico, el consumo de alcohol y drogas y la deserción escolar -por ese orden- son factores claves para entender las variaciones geográficas de las tasas de homicidio en México en 2008-2009. Así, para reducir los homicidios y las variaciones espaciales de la tasa, se necesita no solo combatir a los cárteles de la droga sino sobre todo implementar reformas estructurales en el sistema de procuración de justicia y disminuir las disparidades socioeconómicas entre los estados.<br>This study seeks to analyze the trend of homicide rates (total and by firearm) in Mexico between 1990 and 2009 and identify the variables that best explain the geographical variations of these rates in the 2008-2009 two-year period. Homicide rates, adjusted for age, were calculated for both sexes between 1990 and 2009 and for each state in 2008-2009. Factors associated with the interstate variations in the homicide rates were identified using multiple linear regression analysis. Results show that the homicide rate in Mexico decreased between 1990 and 2007, but doubled over the last two years (from 7.6 to 16.6 per 100,000). In 2009, the male homicide rate was almost 9 times higher than the female rate and about two-thirds of homicides involved firearms. Multivariate analysis reveals that impunity, drug trafficking, alcohol and drug consumption and school dropout in basic education - in that order - are key factors for understanding the geographical variations in homicide rates in Mexico in 2008-2009. Findings suggest that to reduce the number of homicide victims and spatial variations in the rate, it is necessary not only to fight the drug cartels, but above all to implement structural reforms in the criminal justice system and reduce the socioeconomic disparities among states