Clinical and Molecular Characterization of Diastrophic Dysplasia in the Portuguese Population

SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related dysplasias and at evaluating genotype-phenotype correlation. Phenotypically, eight patients were classified as cDTD, four patients as rMED and two patients had an intermediate phenotype (mild DTD - mDTD, previously 'DTD variant'). The Arg279Trp mutation was present in all patients, either in homozygosity (resulting in rMED) or in compound heterozygosity with the known severe alleles Arg178Ter or Asn425Asp (resulting in DTD) or with the mutation c.727-1G>C (causing mDTD). The 'Finnish mutation', c.-26+2T>C, and the p.Cys653Ser, both frequent mutations in non-Portuguese populations, were not identified in any of the patients of our cohort and are probably very rare in the Portuguese population. A targeted mutation analysis for p.Arg279Trp and p.Arg178Ter in the Portuguese population allows the identification of approximately 90% of the pathogenic alleles.

Financial reporting and inventory disclosure in the extractive industry

Companies in the Extractive Industry (E.I) have some particularities and special regulation that provides an interesting study of inventory and reporting in their financial statements. The theme thus chosen here, aims to make a comparison of the various methods of reporting inventories (recognition, measurement, presentation and disclosures) as well as the different accounting regulations in place. Moreover, inventories are a current asset which represents a large per cent of total assets. Another is that it also provides an opportunity for analysis of the different regulations in place for disclosures; the different standards implemented- IAS, US GAAP and/or regional standards.

Enhancement of adhesion and promotion of osteogenic differentiation of human adipose stem cells by poled electroactive poly(vinylidene fluoride)

Poly(vinylidene fluoride) (PVDF) is a biocompatible material with excellent electroactive properties. Non-electroactive α-PVDF and electroactive β-PVDF were used to investigate the substrate polarization and polarity influence on the focal adhesion size and number as well as on human adipose stem cells (hASCs) differentiation. hASCs were cultured on different PVDF surfaces adsorbed with fibronectin and focal adhesion size and number, total adhesion area, cell size, cell aspect ratio and focal adhesion density were estimated using cells expressing EGFP-vinculin. Osteogenic differentiation was also determined using a quantitative alkaline phosphatase assay. The surface charge of the poled PVDF films (positive or negative) influenced the hydrophobicity of the samples, leading to variations in the conformation of adsorbed extracellular matrix (ECM) proteins, which ultimately modulated the stem cell adhesion on the films and induced their osteogenic differentiation.

Meddelanden af Societas pro Fauna et Flora Fennica.

Haft. 28 (1901-1902)

Meddelanden af Societas pro Fauna et Flora Fennica.

Haft. 19 (1893)

Meddelanden af Societas pro Fauna et Flora Fennica.

Haft. 27 (1900-1901)

Meddelanden af Societas pro Fauna et Flora Fennica.

Haft. 23 (1896-1897)

Meddelanden af Societas pro Fauna et Flora Fennica.

Haft. 25 (1898-1899)

Meddelanden af Societas pro Fauna et Flora Fennica.

Haft. 29 (1902-1903)

Meddelanden af Societas pro Fauna et Flora Fennica.

Haft. 37 (1910-1911)

Meddelanden af Societas pro Fauna et Flora Fennica.

Haft. 24 (1897-1898)

Meddelanden af Societas pro Fauna et Flora Fennica.

Haft. 26 (1899-1900)

Meddelanden af Societas pro Fauna et Flora Fennica.

Haft. 35 (1908-1909)

Meddelanden af Societas pro Fauna et Flora Fennica.

Haft. 34 (1907-1908)

Meddelanden af Societas pro Fauna et Flora Fennica.

Haft. 18 (1891-1892)