Flora of Jamaica, containing descriptions of the flowering plants known from the island, by William Fawcett and Alfred Barton Rendle.

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Flora of Jamaica, containing descriptions of the flowering plants known from the island, by William Fawcett and Alfred Barton Rendle.

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Flora of Jamaica, containing descriptions of the flowering plants known from the island, by William Fawcett and Alfred Barton Rendle.

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El Real Conservatorio de Artes (1824-1850): Orígenes y gestación de la ingeniería industrial moderna

El "Conservatorio de Artes" tuvo un origen Ilustrado, emulando a su homónimo parisino, pero nació durante el absolutismo (1824), tras un frustrado intento afrancesado (1810). Absorbió al "Gabinete de Máquinas" y tuvo como primer director a López de Peñalver. Supuso un puente entre la Ilustración y la Ingeniería Industrial decimonónica, sobre todo, a partir de la institucionalización del envío de pensionados a la "École Centrale des Arts et Manufactures" parisina, con cuyo retorno consigue transformarse en "Real Instituto Industrial" (1850). Aparte destaca su proyección social, tanto en su papel de oficina de patentes como en la promoción de exposiciones industriales.

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

Williams-Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features. These insights for genotype-phenotype correlations came from the molecular and clinical analysis of patients with atypical deletions and mice models. Here we report a patient showing mild WBS physical phenotype and normal IQ, who carries a shorter 1 Mb atypical deletion. This rearrangement does not include the GTF2IRD1 and GTF2I genes and only partially the BAZ1B gene. Our results are consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients.

A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.

The molecular characterization of balanced chromosomal rearrangements have always been of advantage in identifying disease-causing genes. Here, we describe the breakpoint mapping of a de novo balanced translocation t(7;12)(q11.22;q14.2) in a patient presenting with a failure to thrive associated with moderate mental retardation, facial anomalies, and chronic constipation. The localization of the breakpoints and the co-occurrence of Williams-Beuren syndrome and 12q14 microdeletion syndrome phenotypes suggested that the expression of some of the dosage-sensitive genes of these two segmental aneuploidies were modified in cells of the proposita. However, we were unable to identify chromosomes 7 and/or 12-mapping genes that showed disturbed expression in the lymphoblastoids of the proposita. This case showed that position-effect might operate in some tissues, but not in others. It also illustrates the overlap of phenotypes presented by patients with the recently described 12q14 structural rearrangements.

A new species of Phyllodistomum Braun, 1899 (Digenea: Gorgoderidae) from Rhamdia quelen (Quoy & Gaimard, 1824) (Siluriformes: Pimelodidae)

Phyllodistomum rhamdiae n. sp. is described based on specimens collected from the urinary bladder of freshwater catfishes, Rhmdia quelen, caught from the Guandu river, outskirts of Rio de Janeiro, State of Rio de Janeiro, Brazil. The new species is characterized by its sucker width ratio equal to 1:1, by the large size of the gonads and their spatial arrangement.