Left atrial appendage occlusion in patients with spontaneous intracerebral hemorrhage: An observational study.

BACKGROUND: Patients with atrial fibrillation (AF) and intracerebral hemorrhage (ICH) are at high risk of ischemic and recurrent bleeding events. Therefore, the decision of restarting or avoiding anticoagulation is challenging. Left atrial appendage occlusion (LAAO) is an alternative for these patients. However, few data are available about safety of early LAAO and factors associated with ischemic stroke and ICH recurrence. METHODS: A unicentric, observational, retrospective study including all patients with AF and a previous ICH who underwent LAAO. We analyzed baseline clinical and neuroimaging characteristics, procedural outcomes, post-procedural therapies and long-term follow-up. RESULTS: Forty patients were included, whose mean age was 76.6 ±7.6 years and 73 % were men. In patients in whom a Magnetic Resonance (MR) was performed (n=22, 55 %), cortical microbleeds were detected in 15 (68 %) and cortical superficial siderosis in one patient. The procedure was successful and safe in 100 % of the patients and it was performed within 30 days of the ICH in 37 % of them. After a median follow up of 46.2 months [26-69], intracranial hemorrhage (ICrH) recurrence occurred in 6 patients (5 ICH and 1 subdural hematoma -SDH-) and the index ICH was lobar in all of them. Ischemic events were significantly lower than expected according to the CHA2DS2-VASc score (7.5 % vs. 16.6 %, p=0.048) and bleeding events were similar to expected by the HAS-BLED score (20 % vs 23.4 %, p=0.63). CONCLUSIONS: In patients with ICH and AF, early LAAO was found to be safe and associated with a reduction in ischemic stroke. However, recurrent ICH risk remains high, and it appears to be mainly driven by cerebral amyloid angiopathy.

FISH mapping of microsatellite loci from Drosophila subobscura and its comparison to related species.

Microsatellites are highly polymorphic markers that are distributed through all the genome being more abundant in non-coding regions. Whether they are neutral or under selection, these markers if localized can be used as co-dominant molecular markers to explore the dynamics of the evolutionary processes. Their cytological localization can allow identifying genes under selection, inferring recombination from a genomic point of view, or screening for the genomic reorganizations occurring during the evolution of a lineage, among others. In this paper, we report for the first time the localization of microsatellite loci by fluorescent in situ hybridization on Drosophila polytene chromosomes. In Drosophila subobscura, 72 dinucleotide microsatellite loci were localized by fluorescent in situ hybridization yielding unique hybridization signals. In the sex chromosome, microsatellite distribution was not uniform and its density was higher than in autosomes. We identified homologous segments to the sequence flanking the microsatellite loci by browsing the genome sequence of Drosophila pseudoobscura and Drosophila melanogaster. Their localization supports the conservation of Muller's chromosomal elements among Drosophila species and the existence of multiple intrachromosomal rearrangements within each evolutionary lineage. Finally, the lack of microsatellite repeats in the homologous D. melanogaster sequences suggests convergent evolution for high microsatellite density in the distal part of the X chromosome.

Short alleles of both GGN and CAG repeats at the exon-1 of the androgen receptor gene are associated to increased PSA staining and a higher Gleason score in human prostatic cancer.

The exon 1 of the human androgen receptor (AR) gene contains two length polymorphisms of CAG (polyglutamine) and GGN (polyglycine). "In vitro" experiments suggest that the larger GGN repeats provide a lower AR-protein yield, whereas the larger CAG repeats decrease the AR transcriptional activity, both decreasing the AR signalling intensity. Here we have tested such possibilities in human prostatic cancer (CaP) specimens. We used 72 archival samples of radical prostatectomy. Parallel slides were used for AR protein or PSA immunohistochemistry, and for genotyping studies. Polymorphisms were genotyped by PCR, fragment length analysis and sequencing selected samples. The AR staining was positively correlated with the Gleason score (r=0.320; P=0.005), but it was not correlated to CAG or GGN repeat length or PSA staining. The number of GGN repeats was negatively correlated to the intensity of PSA staining (r=-0.243; P=0.04). Combination of short alleles of both tracts was significantly higher in: the heavier stained tertiles for PSA (P=0.03) and AR (P=0.06); and in the subgroup of samples having a Gleason score of 7 or higher (P=0.021). The results support the hypothesis that the shorter alleles of CAG and GGN repeats in the AR gene are associated to an increased AR signalling intensity in human prostate cancer, and with more aggressive forms of the disease.

Distribution of the transposable elements bilbo and gypsy in original and colonizing populations of Drosophila subobscura.

BACKGROUND: Transposable elements (TEs) constitute a substantial amount of all eukaryotic genomes. They induce an important proportion of deleterious mutations by insertion into genes or gene regulatory regions. However, their mutational capabilities are not always adverse but can contribute to the genetic diversity and evolution of organisms. Knowledge of their distribution and activity in the genomes of populations under different environmental and demographic regimes, is important to understand their role in species evolution. In this work we study the chromosomal distribution of two TEs, gypsy and bilbo, in original and colonizing populations of Drosophila subobscura to reveal the putative effect of colonization on their insertion profile. RESULTS: Chromosomal frequency distribution of two TEs in one original and three colonizing populations of D. subobscura, is different. Whereas the original population shows a low insertion frequency in most TE sites, colonizing populations have a mixture of high (frequency > or = 10%) and low insertion sites for both TEs. Most highly occupied sites are coincident among colonizing populations and some of them are correlated to chromosomal arrangements. Comparisons of TE copy number between the X chromosome and autosomes show that gypsy occupancy seems to be controlled by negative selection, but bilbo one does not. CONCLUSION: These results are in accordance that TEs in Drosophila subobscura colonizing populations are submitted to a founder effect followed by genetic drift as a consequence of colonization. This would explain the high insertion frequencies of bilbo and gypsy in coincident sites of colonizing populations. High occupancy sites would represent insertion events prior to colonization. Sites of low frequency would be insertions that occurred after colonization and/or copies from the original population whose frequency is decreasing in colonizing populations. This work is a pioneer attempt to explain the chromosomal distribution of TEs in a colonizing species with high inversion polymorphism to reveal the putative effect of arrangements in TE insertion profiles. In general no associations between arrangements and TE have been found, except in a few cases where the association is very strong. Alternatively, founder drift effects, seem to play a leading role in TE genome distribution in colonizing populations.

Population dynamics of the 2 major mitochondrial DNA haplotypes in experimental populations of Drosophila subobscura.

The evolution of Drosophila subobscura mitochondrial DNA has been studied in experimental populations, founded with flies from a natural population from Calvià (Majorca, Balearic Islands, Spain). This population, like others founded in Europe, is characterized by the presence of 2 very common (>95%) mitochondrial haplotypes (named I and II) and rare and endemic haplotypes that appear at very low frequencies. Four experimental populations were established with flies having a heterogeneous nuclear genetic background, which was representative of the composition of the natural population. The populations were started with haplotypes I and II at an initial frequency of 50% each. After 33 generations, the 2 haplotypes coexisted. Random drift could be rejected as the only force responsible for the observed changes in haplotype frequencies. A slight but significant linear trend favouring a mtDNA (haploid) fitness effect has been detected, with a nonlinear deviation that could be due to a nuclear component. An analysis of chromosomal arrangements was made before the foundations of the cages and at generation 23. Our results indicated that the hypothesis that the maintenance of the frequencies of haplotypes I and II in natural populations could be due to their association with chromosomal arrangements remains controversial.

Sobrepeso y obesidad. Evaluación de los objetivos del Plan de Salud de Cataluña para el año 2000 / Overweight and obesity. Evaluation of the objectives of the Health Plan for Catalonia for the year 2000

Fundamento y objetivo: Los datos epidemiológicos disponibles indican que la obesidad es la enfermedad nutricional con mayor prevalencia en los países industrializados, que presenta un importante aumento en los últimos años. La finalidad de este trabajo fue evaluar hasta qué punto se han alcanzado los objetivos previstos que, en relación con el exceso ponderal, se establecieron en el Plan de Salud de Cataluña para el año 2000. Población y método: Se utilizan los datos aportados por dos estudios. El primero, un estudio transversal realizado en el año 1989 con una muestra de 704 individuos de la población mayor de 15 años que utilizó el valor > 30 del índice de masa corporal (IMC) como indicador de obesidad. El segundo se realizó en el período 1992-1993, con una muestra de 2.670 individuos de entre 6 y 74 años, en el cual se siguieron los mismos criterios de clasificación según el IMC. Para la evaluación de los objetivos sobre obesidad establecidos para el año 2000 se ha utilizado información procedente del examen de salud, un estudio transversal de la población de Cataluña de entre 18 y 74 años que complementaba la información obtenida en la Encuesta de Salud llevada a cabo en el año 2002. Resultados: La prevalencia de sobrepeso en la población de Cataluña muestra un claro incremento entre los años 1989 y 2002. En general se observa un aumento de 11,1 puntos, lo que supone un incremento del 39,9%. En relación con la obesidad se observa una evaluación similar, con un incremento de 5,1 puntos, lo que supone un aumento del 42,9%. Conclusiones: Los objetivos previstos en Cataluña para el año 2000 en relación con el exceso ponderal se fijaron en una reducción del 20%. En ninguno de los dos casos (sobrepeso y obesidad) se han alcanzado los objetivos inicialmente previstos (AU)

Background and objective: Available epidemiological data polls point to obesity as the most prevalent nutritional disease in industrialized countries with an important increase in the latest years. The objective was to evaluate whether the predicted objectives related to overweight of the Catalonian Health Plan 2000 have been completely achieved. Subjects and method: We have utilized data from two sources: the first of them is a transversal study made in 1989 with a sample of 704 subjects older than 15. The study defined a BMI value > 30 as indicator of obesity. The other one, carried out between 1992 and 1993, with a sample of 2,670 subjects with ages between 6 and 74 used the same criteria to define obesity. In order to evaluate the objectives related to obesity established for 2000, we have used information from the Health Exam, a transversal study of Catalonian population ages 18-74 that complemented information obtained from the Health Survey carried out en 2002. Results: The prevalence of overweight in Catalonian population shows an increase for the 1989-2002 period. We have noticed a rise of 11,1 points (39,9%). In addition, obesity has increased 5,1 (42,9%). Conclusions: The predicted objectives in Catalonia for 2000 related to ponderal excess, fixed a 20% reduction. Neither obesity or overweight have achieved the objectives previously established (AU)

Epidemiología de la anemia ferropénicaen Canarias (ENCA 97-98) / Epidemiology of iron-deficiency anemia in the Canarian Islands (ENCA 97-98)

Fundamentos: El déficit de hierro es uno de los déficits nutricionales más frecuentes. Este trabajo describe la situación de la anemia ferropénica en Canarias mediante de los marcadores bioquímicos que definen cada etapa (ferritina; volumen corpuscular medio y hemoglobina).Métodos: Se obtuvieron muestras de sangre de los 782 participantes (de 6 a 75 años) en la fase de evaluación bioquímica de la Encuesta de Nutrición de Canarias (ENCA 97-98). Se muestran los porcentajes de la población que tienen valores inferiores a los rangos de normalidad para las variables seleccionadas (ferritina <12 mg/dl; VCM<80 fl.; hemoglobina <12 g/dl; <13 g/dl para hombres mayores de 11 años).Resultados: Ferritina: Por debajo del nivel de normalidad se encuentra el 15 por ciento de los participantes (4 por ciento de los hombres, 25 por ciento de las mujeres). El grupo más afectado son las mujeres menores de 49 años (31 por ciento). VCM: El 5 por ciento de los participantes está bajo el rango de normalidad. Eritropoyesis deficitaria en hierro: (ferritina baja + VCM bajo). En esta etapa se encuentra el 2,4 por ciento de los participantes (0,6 por ciento de los hombres, 4 por ciento de las mujeres). El grupo más afectado son, de nuevo, las mujeres menores de 49 años (5,4 por ciento). Hemoglobina: hay un 7 por ciento de individuos por debajo de su rango. Anemia ferropénica: (ferropenia + hemoglobina baja). En esta situación se encuentra el 1,5 por ciento de la población estudiada (0,3 por ciento de los hombres y 2,5 por ciento de las mujeres).Conclusiones: Los criterios que definen cada etapa varían según el estudio. La prevalencia de anemia ferropénica en ENCA supera ligeramente a otros estudios nacionales. La ferritina es el parámetro que está más afectado. El grupo más vulnerable son las mujeres de 18 a 49 años (AU)

Phenotypic plasticity in colonizing populations of Drosophila subobscura

A plasticidade fenotípica de alguns caracteres quantitativos foi estudada em duas populaçöes colonizadoras de Drosophila subobscura (Davis e Eureka, Califórnia). Analisaram-se tanto o efeito da temperatura como o da criaçäo em laboratório. A criaçäo em laboratório durante quatro geraçöes a 18ºC aumentou significativamente o comprimento da asa e da tíbia. Este incremento foi semelhante ao obtido quando as moscas foram cultivadas a 13ºC durante duas geraçöes. O ambiente de temperatura baixa pode ser considerado mais estressante para as fêmeas, pois elas apresentaram um aumento na variância fenotípica. As duas populaçöes analisadas apresentaram uma grande plasticidade fenotípica, apesar do "gargalo" genético produzido durante o processo colonizador. Nossos estudos mostram que a manutençäo das moscas no laboratório por um período de tempo relativamente curto é capaz de mudar significativamente alguns caracteres quantitativos, sendo fundamental analisar as moscas imediatamente após capturá-las, para se obterem estimativas confiáveis na análise de tais caracteres nas populaçöes naturais.