A Novel Mutation Involving the Initiation Codon of FGF3 in a Family Described with Complete Inner Ear Agenesis, Microtia and Major Microdontia (LAMM Syndrome)

LAMM syndrome (OMIM #610706) is a rare autosomal recessive syndrome characterized by the association of Michel aplasia, microdontia and malformation of the external ear. Different mutations in FGF3 gene were reported in several families presenting with this syndrome. Clinical features and genetic results observed in a family with LAMM syndrome are reported. The diagnosis of isolated Michel aplasia was initially made in this family composed of two affected children. Microtia and microdontia was recently evidenced in both patients suggesting the diagnosis of LAMM syndrome. New auditory and orodental iconography was performed permitting to describe the patients’ phenotype in depth and to report rare findings of LAMM syndrome. The sequencing of FGF3 gene identified a novel missense mutation (c.2T>G), substituting the first initiator methionine in arginine, in the fibroblast growth factor 3 (FGF3) at the homozygous state in both patients. LAMM syndrome was confirmed and appropriate genetic counseling performed

Peter Haber hat nichts von Open Access begriffen

http://weblog.hist.net/archives/6363 "Es handelt sich um die unkorrigierte und fussnotenlose Fassung eines Textes, der in Geschichte in Wissenschaft und Unterricht, 63 (2012), 5/6, S. 261-270 erschienen ist. Bitte nur nach der gedruckten Ausgabe zitieren. Diese Fassung steht unter einer Creative Commons BY-NC-ND 2.0-Lizenz." Kein einziger Link. Da vergeht mir die Lust, auf das auch inhaltlich fragwürdige Geschreibsel zur Wikipedia einzugehen

Stable isotope analysis of modern small mammals from Morocco: implications for reconstructing palaeoenvironment and palaeoclimate

National audienceSmall mammal remains from archaeological sites provide an excellent tool for reconstructing palaeoenvironment and palaeoclimate as they are abundant in the archaeological record, have small home ranges and prefer specific habitats. In this study we evaluate the stable carbon and oxygen isotope composition of small mammal teeth as a reflection of local climate and environmental conditions, with theaim of assessing their use as a terrestrial proxy climate record in North Africa. Modern Gerbillus, Meriones and Mus teeth and bones, collected from mesic, semi-arid and arid environments across Morocco, were analysed for their δ13C and δ 18O, and δ 13C and δ 15N composition respectively. The results show oxygen isotopes in Gerbillus and Meriones tooth enamel are sensitive to changes in rainfall and relative humidity, with mammal teeth in more arid sites displaying higher oxygen isotope values relative to sites located in the mesic coastal zone. This is best explained by small mammals strong reliance on plant water, hence their bodywater and tooth enamel is highly sensitive to evaporative enrichment in plants under xericconditions. The carbon isotopes in the Gerbillus and Meriones tooth enamel display greater isotopic variability and likely reflect the vegetation within the mammal’s microhabitat. In Gerbillus, Meriones and Mus δ 15N appears insensitive to changes in aridity. Based on isotopic comparisons between individual Gerbillus and Meriones molar and incisor teeth, we find that molar teeth should be used in palaeoenvironmental reconstructions because these teeth consistently reflect the spring/summer breeding season. In contrast, incisors, which form continuously throughout the year, show increased isotopic variability in the proxy record. From this study we conclude that both oxygen and carbon isotopes in small mammal teeth are sensitive to environmental conditions in North Africa

Efficient p-n junction-based thermoelectric generator that can operate at extreme temperature conditions

\u3cp\u3eIn many industrial processes, a large proportion of energy is lost in the form of heat. Thermoelectric generators can convert this waste heat into electricity by means of the Seebeck effect. However, the use of thermoelectric generators in practical applications on an industrial scale is limited in part because electrical, thermal, and mechanical bonding contacts between the semiconductor materials and the metal electrodes in current designs are not capable of withstanding thermal-mechanical stress and alloying of the metal-semiconductor interface when exposed to the high temperatures occurring in many real-world applications. Here we demonstrate a concept for thermoelectric generators that can address this issue by replacing the metallization and electrode bonding on the hot side of the device by a p-n junction between the two semiconductor materials, making the device robust against temperature induced failure. In our proof-of-principle demonstration, a p-n junction device made from nanocrystalline silicon is at least comparable in its efficiency and power output to conventional devices of the same material and fabrication process, but with the advantage of sustaining high hot side temperatures and oxidative atmosphere.\u3c/p\u3

Efficient p-n junction-based thermoelectric generator that can operate at extreme temperature conditions

In many industrial processes, a large proportion of energy is lost in the form of heat. Thermoelectric generators can convert this waste heat into electricity by means of the Seebeck effect. However, the use of thermoelectric generators in practical applications on an industrial scale is limited in part because electrical, thermal, and mechanical bonding contacts between the semiconductor materials and the metal electrodes in current designs are not capable of withstanding thermal-mechanical stress and alloying of the metal-semiconductor interface when exposed to the high temperatures occurring in many real-world applications. Here we demonstrate a concept for thermoelectric generators that can address this issue by replacing the metallization and electrode bonding on the hot side of the device by a p-n junction between the two semiconductor materials, making the device robust against temperature induced failure. In our proof-of-principle demonstration, a p-n junction device made from nanocrystalline silicon is at least comparable in its efficiency and power output to conventional devices of the same material and fabrication process, but with the advantage of sustaining high hot side temperatures and oxidative atmosphere