A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3

Split-hand/foot malformation (SHFM) associated with aplasia of long bones, SHFLD syndrome or Tibial hemimelia-ectrodactyly syndrome is a rare condition with autosomal dominant inheritance, reduced penetrance and an incidence estimated to be about 1 in 1,000,000 liveborns. To date, three chromosomal regions have been reported as strong candidates for harboring SHFLD syndrome genes: 1q42.2-q43, 6q14.1 and 2q14.2. We characterized the phenotype of nine affected individuals from a large family with the aim of mapping the causative gene. Among the nine affected patients, four had only SHFM of the hands and no tibial defects, three had both defects and two had only unilateral tibial hemimelia. In keeping with previous publications of this and other families, there was clear evidence of both variable expression and incomplete penetrance, the latter bearing hallmarks of anticipation. Segregation analysis and multipoint Lod scores calculations (maximum Lod score of 5.03 using the LINKMAP software) using all potentially informative family members, both affected and unaffected, identified the chromosomal region 17p13.1-17p13.3 as the best and only candidate for harboring a novel mutated gene responsible for the syndrome in this family. The candidate gene CRK located within this region was sequenced but no pathogenic mutation was detected.

Synthesis optimization, structural evolution and optical properties of Y(0.9)Er(0.1)Al(3)(BO(3))(4) nanopowders obtained by soft chemistry methods

This paper describes the structural evolution of Y(0.9)Er(0.1)Al(3)(BO(3))(4) nanopowders using two soft chemistry routes, the sol-gel and the polymeric precursor methods. Differential scanning calorimetry, differential thermal analyses, thermogravimetric analyses, X-ray diffraction, Fourier-transform infrared, and Raman spectroscopy techniques have been used to study the chemical reactions between 700 and 1200 degrees C temperature range. From both methods the Y(0.9)Er(0.1)Al(3)(BO(3))(4) (Er:YAB) solid solution was obtained almost pure when the powdered samples were heat treated at 1150 degrees C. Based on the results, a schematic phase formation diagram of Er:YAB crystalline solid solution was proposed for powders from each method. The Er:YAB solid solution could be optimized by adding a small amount of boron oxide in excess to the Er:YAB nominal composition. The nanoparticles are obtained around 210 nm. Photoluminescence emission spectrum of the Er:YAB nanocrystalline powders was measured on the infrared region and the Stark components of the (4)I(13/2) and (4)I(15/2) levels were determined. Finally, for the first time the Raman spectrum of Y(0.9)Er(0.1)Al(3)(BO(3))(4) crystalline phase is also presented. (C) 2008 Elsevier Masson SAS. All rights reserved.

Molecular conformation of the racemic indan derivative (+/-)-1-trans-3-(3,4-dichlorophenyl)-2,3-dihydro-1H-indene-1-carboxamide

This paper presents the structural characterization of the indan derivative (+/-)-1-trans-3-(3,4-dichlorophenyl)-2,3-dihydro-1H-indene-1-carboxamide, which was unambiguously determined by X-ray diffraction (XRD) to be a racemate (R/S: 50/50) crystallizing in an achiral crystal structure (P2(1)/c, a = 9.3180(1) , b = 7.9070(2) , c = 19.7550(4) , beta = 103.250(1)A degrees, V = 1416.75(5) (3) and Z = 4). The diastereomers are related by the inversion symmetry and linked by H bond forming a dimer. The crystal packing is stabilized by hydrogen bonds, including the classical one responsible for the formation of centrosymmetric dimers, and non-classical ones involving C-H center dot center dot center dot O and C-H center dot center dot center dot pi-aryl interactions. The intra and intermolecular geometry of the title compound is compared to the (+/-)-1-trans-3-(3,4-dichlorophenyl)-2,3-dihydro-1H-indene-1-carboxylic acid one, which also present an achiral crystal structure from racemates (R/S: 50/50). The two indan derivatives crystallize in a very similar unit cell.

Perspective: LaGuardia Community College Newsletter Vol. 1, No. 3

"A newsletter published periodically to keep the faculty, students, staff, and community informed about the activities taking place on the campus of LaGuardia Community College." No date [1973]; Vol. 1, No. 3; 4 pages; Color (green, black & white); black & white photographs. Cover article: “COMMENCEMENT SPEAKER NAMED, SHIRLEY CHISHOLM TO DELIVER GRADUATION ADDRESS”. Other entries include: “FIORELLO FUNDS COMMITTEE ANNOUNCES F INAL AWARDS;” “’TOWN MEETINGS’ PROGRAMS TO BEGIN ON TELEVISION MARCH 17;” “Highights of BLACK HISTORY WEEK.”

March 2012: Volume 1 Issue 3

In this Issue: Summertime, But the Livin' "Ain't" EasyDacus Library of Winthrop UniversityStudent Works on Medlin Papers and Efforts on Friends Endowment

Avaliação de IGF-1 (Insulin-like growth factor-1), IGFBP-1 e IGFBP-3 (Insulin-like to growth binding protein-1 e 3) no fluído folicular de pacientes infertéis com endometriose

Resumo não disponível.

New Ventures Brasil (Forum 2008) - Sustentabilidade empresarial (Parte 1, 2, 3)

Sustentabilidade empresarial: do capital somente à Bolsa de Valores - Luiz Maia - Instituto BM&FBOVESPA - Mario Monzoni - GVces / FGV-EAESP

New Ventures Brasil (Forum 2008) - Mesa redonda (Parte 1, 2, 3)

Mesa redonda - Cenário de investimento em negócios verdes - André Vitti - Axial Gestão, Fabio Bellotti - São Paulo Anjos, Juliano Graff- Master Minds, Oren Pinsky - Grupo Stratus, Renato Marques - Finep - Mediadora: Elisabeth Lerner - Tripod Investments

Mudanças climáticas: uma realidade (trailer parte 1, 2, 3)

Secas extremas, inundações, furacões, pessoas que perderam suas casas, suas plantações, seus animais, sua fé. Essa é a realidade enfrentada por brasileiros em diversas regiões do País. A causa? As mudanças do clima. Apesar de muita gente ainda achar que aquecimento global é coisa de cinema ou que só acontecerá daqui a muitas gerações, o documentário do Greenpeace "Mudanças do Clima, Mudanças de Vidas" mostra que tudo isso já é, infelizmente, uma realidade. Confira ao lado o filme e clique no menu acima para adquirir a sua cópia

Climate Justice: manifestação em Copenhague (partes 1, 2, 3 e 4)

Protesto realizado em 9/12, dia em que foi cancelada plenária que discutiria vinculação legal do acordo global. Manifestantes pediram teto de 1.5 graus para aumento de temperatura e posições ousadas e contundentes dos países em desenvolvimento

EPC: palestra com Paul Hardisty (parte 1, 2, 3 e 4)

A plataforma brasileira Empresas pelo Clima recebeu no dia 4 de maio Paul Hardisty, Diretor global da divisão EcoNomics & Sustainability da Worley Parsons, para uma apresentação sobre cases de sucesso em que a gestão de emissão de gases de efeito estufa foi aplicada como medida de adaptação às mudanças climáticas globais

Palestra - Wilson Nobre - (parte 1, 2, 3, 4, 5 e 6)

Em palestra realizada no dia 04 de julho, o professor Wilson Nobre (membro fundador e pesquisador do Fórum de Inovação da FGV-EAESP), falou sobre Inovação na Cadeia de Valor

Videoaula sobre precificação de carbono (partes 1, 2, 3, 4, 5 e 6)

Esta é uma das seis partes da videoaula que integra o conteúdo do especial P22_ON sobre precificação de carbono. Nesta série, a pesquisadora do GVces Inaiê Takaes Santos faz um exercício teórico no qual analisa o custo-benefício da tributação e do sistema de comércio de emissões