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Fibrodysplasia ossificans progressiva is the most severe and disabling disorder of ectopic ossification in humans. It is characterized by congenital skeletal abnormalities in association with extraskeletal widespread endochondral osteogenesis. Virtually all patients show the same mutation in the "Activin A type-I/activin-like kinase-2" receptor encoding gene. As a result of this discovery there have been significant advances in the knowledge of the cellular and molecular basis of the disease. Besides allowing a better understanding of ossification process, recent evidence indicates that the primary disturbance lies within basic mechanisms of cell differentiation that are key in several physiological pathways and in the genesis of diseases with a major impact on health. In this article we summarize these breakthroughs, with implications that go beyond the limits of this devastating disease to insinuate a new model of human pathophysiology. [ABSTRACT FROM AUTHOR]

The objective of the present study is to offer an overview of a phenomenon pervasively diffuse in Sardinia: code-alternation in the linguistic production of immigrants during their various interactions with Sardinian speakers. Indeed, code-switching represents one of those linguistic strategies to which immigrants turn to in the different phases of L2 acquisition, in order to fulfill their communicative needs and compensate for their lack of linguistic competencies in the interethnic communication in the country in which they temporarily live. In this survey, however, the purpose is not that of analyzing code-alternation Italian/English, Italian/Spanish, etc., but rather the inclusion of the Sardinian dialect variety among the languages that the immigrants adopt during their different social interactions with the natives. The use of the Sardinian dialect variety on the part of immigrants undoubtedly represents one of those discourse procedures to which migrant people resort to assimilate culturally and linguistically as rapidly as possible with the dominant group (Loi Corvetto 2000).The study is based on taped interviews from a corpus of naturallyoccurring speech composed of almost thirty hours of conversation, in which the participants were unaware that they were being recorded, since it is believed that only in these circumstances could the recorded samples be considered to illustrate spontaneous and unselfconscious speech. From a methodological point of view, the aim is to take into consideration the bilingual discourse Italian-Campidanese of the Italian L2 learners from a morpho-syntax perspective; more specifically, the objective is to identify: (a) the morphological and syntactic characteristics of the Italian-Campidanese bilingual discourse of the Italian L2 learners and attempt to characterize which morphological and syntactical categories can be switched and with which frequency; (b) which syntactical boundaries are considered 'grammatical' and which on the other hand are those considered as 'non-grammatical' or 'impossible', (c) the possible existence of grammatical constraints and models that may govern the compatibility of constituents of the two codes in contact. [ABSTRACT FROM AUTHOR]

Recent years have seen an unprecedented increase in the knowledge and understanding of biochemical disturbances involved on constitutional bone disorders. Recognition of the genetic background as the common cause of these diseases prompted the substitution of the term «constitutional» by «genetic», in referring to them. Understanding physiopathological bases by finding out the altered metabolic pathways as well as their regulatory and control systems, favours an earlier and more accurate diagnosis based on interdisciplinary collaboration. Although clinical and radiological assessment remains crucial in the study of these disorders, ever more often the diagnosis is achieved by molecular and genetic analysis. Elucidation of the damaged underlying molecular mechanisms offers targets potentially useful for therapeutic research in these complex and often disabling diseases. [ABSTRACT FROM AUTHOR]

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Copyright of Reumatología Clínica is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)