A relative double commutant theorem for hereditary sub-C*-algebras

We prove a double commutant theorem for hereditary subalgebras of a large class of C*-algebras, partially resolving a problem posed by Pedersen[8]. Double commutant theorems originated with von Neumann, whose seminal result evolved into an entire field now called von Neumann algebra theory. Voiculescu proved a C*-algebraic double commutant theorem for separable subalgebras of the Calkin algebra. We prove a similar result for hereditary subalgebras which holds for arbitrary corona C*-algebras. (It is not clear how generally Voiculescu's double commutant theorem holds.)

Hereditary completeness for systems of exponentials and reproducing kernels

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Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene.

We report a Spanish family with autosomal-dominant non-neuropathic hereditary amyloidosis with a unique hepatic presentation and death from liver failure, usually by the sixth decade. The disease is caused by a previously unreported deletion/insertion mutation in exon 4 of the apolipoprotein AI (apoAI) gene encoding loss of residues 60-71 of normal mature apoAI and insertion at that position of two new residues, ValThr. Affected individuals are heterozygous for this mutation and have both normal apoAI and variant molecules bearing one extra positive charge, as predicted from the DNA sequence. The amyloid fibrils are composed exclusively of NH2-terminal fragments of the variant, ending mainly at positions corresponding to residues 83 and 92 in the mature wild-type sequence. Amyloid fibrils derived from the other three known amyloidogenic apoAI variants are also composed of similar NH2-terminal fragments. All known amyloidogenic apoAI variants carry one extra positive charge in this region, suggesting that it may be responsible for their enhanced amyloidogenicity. In addition to causing a new phenotype, this is the first deletion mutation to be described in association with hereditary amyloidosis and it significantly extends the value of the apoAI model for investigation of molecular mechanisms of amyloid fibrillogenesis.

Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene.

We report a Spanish family with autosomal-dominant non-neuropathic hereditary amyloidosis with a unique hepatic presentation and death from liver failure, usually by the sixth decade. The disease is caused by a previously unreported deletion/insertion mutation in exon 4 of the apolipoprotein AI (apoAI) gene encoding loss of residues 60-71 of normal mature apoAI and insertion at that position of two new residues, ValThr. Affected individuals are heterozygous for this mutation and have both normal apoAI and variant molecules bearing one extra positive charge, as predicted from the DNA sequence. The amyloid fibrils are composed exclusively of NH2-terminal fragments of the variant, ending mainly at positions corresponding to residues 83 and 92 in the mature wild-type sequence. Amyloid fibrils derived from the other three known amyloidogenic apoAI variants are also composed of similar NH2-terminal fragments. All known amyloidogenic apoAI variants carry one extra positive charge in this region, suggesting that it may be responsible for their enhanced amyloidogenicity. In addition to causing a new phenotype, this is the first deletion mutation to be described in association with hereditary amyloidosis and it significantly extends the value of the apoAI model for investigation of molecular mechanisms of amyloid fibrillogenesis.

Aspectes bioètics de les malalties genètiques hereditàries : Els casos de la fibrosi quística i la corea de Huntington

Els objectius principals del treball que es volen assolir són analitzar la problemàtica a nivell bioètic plantejada per les malalties hereditàries i l'observació de les conseqüències ètico morals de les innovacions tecnològiques en matèria genètica. Altres objectius són el coneixement del vocabulari bioètic i analitzar la influència del pensament filosòfic en l'activitat científica.

Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS.Methods: The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of the variant. We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls). Three well-characterized LS families that fulfilled the Amsterdam II Criteria and consisted of members with the p.Lys618Ala variant were included to assess co-occurrence and co-segregation. A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers.Results: Twenty-seven individuals were heterozygous for the p.Lys618Ala variant; nine had sporadic CRC (2.41%), seven were suspected of having hereditary CRC (2.8%) and 11 were controls (2.68%). There were no significant associations in the case-control and case-case studies. The p.Lys618Ala variant was co-existent with pathogenic mutations in two unrelated LS families. In one family, the allele distribution of the pathogenic and unclassified variant was in trans, in the other family the pathogenic variant was detected in the MSH6 gene and only the deleterious variant co-segregated with the disease in both families. Only two positive cases of microsatellite instability (2/17, 11.8%) were detected in tumours from p.Lys618Ala carriers, indicating that this variant does not play a role in functional inactivation of MLH1 in CRC patients.Conclusions: The p.Lys618Ala variant should be considered a neutral variant for LS. These findings have implications for the clinical management of CRC probands and their relatives.

Vitamin E but not 17B-estradiol protect against vascular toxicity induced by B-amyloid wild type and the Dutch amyploid variant

Amyloid β-peptide (Aβ) fibril deposition on cerebral vessels produces cerebral amyloid angiopathy that appears in the majority of Alzheimer's disease patients. An early onset of a cerebral amyloid angiopathy variant called hereditary cerebral hemorrhage with amyloidosis of the Dutch type is caused by a point mutation in Aβ yielding AβGlu22→Gln. The present study addresses the effect of amyloid fibrils from both wild-type and mutated Aβ on vascular cells, as well as the putative protective role of antioxidants on amyloid angiopathy. For this purpose, we studied the cytotoxicity induced by Aβ1–40 Glu22→Gln and Aβ1–40 wild-type fibrils on human venule endothelial cells and rat aorta smooth muscle cells. We observed that AβGlu22→Gln fibrils are more toxic for vascular cells than the wild-type fibrils. We also evaluated the cytotoxicity of Aβ fibrils bound with acetylcholinesterase (AChE), a common component of amyloid deposits. Aβ1–40 wild-type–AChE fibrillar complexes, similar to neuronal cells, resulted in an increased toxicity on vascular cells. Previous reports showing that antioxidants are able to reduce the toxicity of Aβ fibrils on neuronal cells prompted us to test the effect of vitamin E, vitamin C, and 17β-estradiol on vascular damage induced by Aβwild-type and AβGlu22→Gln. Our data indicate that vitamin E attenuated significantly the Aβ-mediated cytotoxicity on vascular cells, although 17β-estradiol and vitamin C failed to inhibit the cytotoxicity induced by Aβ fibrils.

Gender specialization in households: An empirical analysis

This paper studies the effect of parental education on the educational attainmentof children in the US for cohorts born after 1910. Importantly, we allow for cohort-specificdifferences by gender. Our estimates show that paternal education has been more importantfor the attainment of male children (paternal specialization on sons). However, maternalspecialization (on daughters) seems to have appeared only for cohorts born after 1955. Weinterpret these results as evidence that fathers are more important role models for sonswhile mothers are a more important reference for daughters. We argue that our results arerobust to the presence of hereditary unobserved ability and conjecture that both types ofgender specialization may have been present in earlier cohorts too.

Propietarios, aparceros y expedientes judiciales. La lucha por la tierra en Lleida durante el primer franquismo

El objetivo del trabajo es el de analizar las posibilidades que ofrecen las actas de conciliación de los juzgados de paz municipales como fuente privilegiada para el estudio de la conflictividad rural durante el siglo XX. Pretende mostrar cómo las actas permiten (todo y siendo muy difícil una aproximación cuantitativa exhaustiva) un análisis cualitativo que proporciona una imagen distinta y complementaria del impacto de las coyunturas económicas y las políticas agrarias sobre las unidades de producción domésticas: una imagen donde la lucha cotidiana por la propiedad y tenencia de la tierra, el endeudamiento y el incumplimiento de las obligaciones hereditarias, entre otros muchos, son aspectos que emergen a la superficie. En la medida en que, además, dicho análisis empírico se inscribe en un contexto (el de las tierras de Lleida durante los años de la autarquía económica) que ya empezamos a conocer con bastante minuciosidad, los resultados obtenidos adquieren una nueva dimensión y permiten calibrar de un modo más preciso los costos sociales que supuso, para la mayor parte de la población rural de la Cataluña interior, la puesta en funcionamiento del programa económico del régimen del general Franco. PALABRAS CLAVE: Conflictividad, franquismo, juicios, Cataluña, Lleida.

Cas clínic: esferocitosi hereditaria de diagnóstic tardà

Nena de 10 anys d'edat que procedeix d'un deficient nivell sòcio-cultural, de la qual es desconeixen antecedents paterns. Els materns són anodins. La malaltia actual s'inicia deus dies abans de l'ingrés per un procés intercorrent amb febre i vòmits de tres dies de durada, seguit d'astènia progressiva, mareigs, vòmits i inestabilitat a la marxa. Consulta el nostre servei d'Urgències per agreujament de la simptomatologia i certa desconexió amb l'ambient....