Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.

Context: Fibroblast growth factor (FGF) 8 is important for GnRH neuronal development with human mutations resulting in Kallmann syndrome. Murine data suggest a role for Fgf8 in hypothalamo-pituitary development; however, its role in the etiology of wider hypothalamo-pituitary dysfunction in humans is unknown.Objective: The objective of this study was to screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47).Methods: FGF8 was analyzed by PCR and direct sequencing. Ethnically matched controls were then screened for mutated alleles (n = 480-686). Localization of Fgf8/FGF8 expression was analyzed by in situ hybridization in developing murine and human embryos. Finally, Fgf8 hypomorphic mice (Fgf8(loxPNeo/-)) were analyzed for the presence of forebrain and hypothalamo-pituitary defects.Results: A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. Second, a heterozygous p.Q216E mutation was identified in a female patient with an absent corpus callosum, hypoplastic optic nerves, and Moebius syndrome. FGF8 was expressed in the ventral diencephalon and anterior commissural plate but not in Rathke's pouch, strongly suggesting early onset hypothalamic and corpus callosal defects in these patients. This was consolidated by significantly reduced vasopressin and oxytocin staining neurons in the hypothalamus of Fgf8 hypomorphic mice compared with controls along with variable hypothalamo-pituitary defects and HPE.Conclusion: We implicate FGF8 in the etiology of recessive HPE and potentially septo-optic dysplasia/Moebius syndrome for the first time to our knowledge. Furthermore, FGF8 is important for the development of the ventral diencephalon, hypothalamus, and pituitary. (J Clin Endocrinol Metab 96: E1709-E1718, 2011)

De la prononciation française depuis le commencement du XVIe siècle, d'après les témoignages des grammairiens ([Reprod.]) / par Charles Thurot,...

Collection : Archives de la linguistique française ; 377

Para além das fronteiras da química: relações entre filosofia, psicologia e ensino de química

The concepts of molecule and of molecular structure are so central to understand chemical phenomena that seems to be no doubt about the uniqueness of its meanings. Nevertheless, the idea that the world exhibits a multiform structure and that to different spheres of the world correspond different ways of knowing (Berger & Luckmann, 1967) has received support from different areas of scientific inquiry. Bachelard (1940, 1982) showed that a single philosophical doctrine is not enough to describe all the different ways of thinking when we try to explain a single concept. Wooley's question about the possibility of deducing the concept of molecular structure from quantum theory (Wooley, 1978) strengthened the feasibility of thinking the concept of molecule as a profile that encompasses different meanings. Moreover, research on students' learning of scientific concepts have brought to light that students use several ideas to explain scientific and everyday phenomena which are different from those learned in formal schooling. These ideas are not extinguished or replaced by scientific concepts, despite the efforts to do so in science classes. The common sense and scientific ways of understanding and talking about reality seems to be complementary in the same sense of the Bohr's complementarity (Halliday & Martin, 1993). So, we have to include in our profile of the concept of molecule not only scientific but also common sense zones. Drawing from Bachelard's notion of epistemological profile, from the history of science and from the research on children's ideas in science, we have developed the idea of a conceptual profile and used it to analyse basic scientific concepts, such as the concepts of matter and physical states of matter (Mortimer, 1995) and to investigate new ways to teach them. In the present paper, we will discuss the zones that might constitute a conceptual profile of molecule. The need of complementary views to account for the molecular structure in different contexts bring important issues for understanding and teaching chemistry, which will be discussed further in the article.

Gestão de resíduos químicos em universidades: Universidade de Brasília em foco

The University of Brasília (UnB) uses a diversity of chemical products, generating residues in a significant way in its multiple activities - teaching, research and community services. The UnB Comission on Chemical Residues Management was established in November 2002, aiming at three main objectives: 1) correct destination for the accumulated residues; 2) implantation of a chemical residues management system and 3) implantation of a UnB Unit for Treatment of Chemical Residues. To fulfil these commitments, a diagnosis of chemical residues produced by the University was performed, which is here presented with an evaluation of their future use, limitations and possibilities.

Luonto muuttaa kaupunkiin

Kirjallisuusarvostelu

Revue critique d'histoire et de littérature / publiée sous la direction de MM. P. Meyer, Ch. Morel, G. Paris, H. Zotenberg

1928/08 (A62,N8,T95).