Pulmonary arterial hypertension (PAH) is a pathological condition characterized by a persistent and progressive elevation of pulmonary vascular resistance with devastating consequences if untreated. In the past recent years, several genes have been related to PAH, however, the molecular defect remains unknown in a significant proportion of patients with familial PAH (∼20%). During the past few years, we have observed that PAH shows a particular behavior in Iberian Gypsies, with more aggressive course and frequently affecting multiple members of the same family. We studied five Gypsy families in whom at least one individual from each family developed a severe form of PAH and in whom no mutation had been identified in the common genes. We applied SNP-array-based homozygosity mapping in three families and obtained, among others, one of which included the gene EIF2AK4, recently reported in patients with PAH from group-1' pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH). Subsequently, we sequenced EIF2AK4 and found a homozygous mutation in all five families: c.3344C>T(p.P1115L). The majority of our patients required early lung transplantation. Hence, this mutation appeared with a more severe phenotype than previously reported for other EIF2AK4 mutations. The finding of this novel mutation is important for genetic counseling and calculation of population recurrence risks.

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This study examined patterns of perceived strategy use among prospective Spanish primary teachers of English and the relationship between those strategies and the prospective teachers’ English proficiency. A total of 116 student teachers were administered the Oxford’s Strategy Inventory for Language Learning (SILL) version 7.0 (ESL/EFL). The Oxford Placement Test was used to obtain a measure of proficiency in English. Descriptive statistics, apost hocthematic analysis and Spearman correlation coefficients were used to analyze the data. The results showed that the participants were medium-to-high strategy users overall and that they reported using metacognitive strategies and those relating to understanding most frequently, while memory and affective strategies were used least frequently. According to the self-reported study data, the most frequently-used individual strategy involved paying attention to language whereas the least-used strategy involved writing down feelings in a learning diary. Findings indicate a generally low correlation between strategy group scores and English proficiency. In addition, there is no significant correlation between the SILL and proficiency scores; however, when the low-use strategies are not computed for the measure of frequency of language learning strategy use, a significant positive correlation is found between self-reported frequency of strategy use and proficiency.

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