148 research outputs found

    Affiliative Social Interactions Activate Vasopressin-Responsive Neurons in the Mouse Dorsal Raphe

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    Social behavior is inextricably linked to human health, shaping both our susceptibility and resilience to disease and stress. Positive interactions as simple as maternal contact or friendships among children and adults can protect against emotional distress and improve treatment outcomes, whereas negative interactions such as abuse, social isolation, or bullying can increase aggression and precipitate mood disorders. Discovering the structure and function of neural circuits underlying social behavior is critical to understanding the link between social interaction and health. The neuropeptide vasopressin has been implicated in the regulation of multiple social interactions including social memory, aggression, mating, pair-bonding, and parental care. Vasopressin producing neurons in the bed nucleus of the stria terminalis (BNST) and medial amygdala (MeA), in particular, are predicted to be involved in social behavior. While the innervation targets of BNST and MeA vasopressin neurons and patterns of vasopressin receptor binding have been well-documented in multiple species, the identity and functional characteristics of neurons targeted by vasopressin innervation are less well understood

    A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

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    Abstract The main clinical features of two siblings from a consanguineous marriage were progressive myoclonic epilepsy without intellectual impairment and a nephrotic syndrome with a strong accumulation of C1q in capillary loops and mesangium of kidney. The biochemical analysis of one of the patients revealed a normal beta-glucocerebrosidase activity in leukocytes, but a severe enzymatic deficiency in cultured skin fibroblasts. This deficiency suggested a defect in the intracellular sorting pathway of this enzyme. The sequence analysis of the gene encoding LIMP-2 (SCARB2), the sorting receptor for beta-glucocerebrosidase, confirmed this hypothesis. A homozygous nonsense mutation in codon 178 of SCARB2 was found in the patient, whereas her healthy parents were heterozygous for the mutation. Besides lacking immunodetectable LIMP-2, patient fibroblasts also had decreased amounts of beta-glucocerebrosidase, which was mainly located in the endoplasmic reticulum, as assessed by its sensitivity to Endo H. This is the first report of a mutation in the SCARB2 gene associated with a human disease, which, contrary to earlier proposals, shares no features with Charcot-Marie-Tooth disease both at the clinical and neurophysiological levels.Projeto financiado pela Fundação para a Ciência e Tecnologia(SFRH/BD/19496/2004 to A.B.

    A Single Nucleotide Polymorphism in the RASGRF2 Gene Is Associated with Alcoholic Liver Cirrhosis in Men

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    Background Genetic polymorphisms in the RAS gene family are associated with different diseases, which may include alcohol-related disorders. Previous studies showed an association of the allelic variant rs26907 in RASGRF2 gene with higher alcohol intake. Additionally, the rs61764370 polymorphism in the KRAS gene is located in a binding site for the let-7 micro-RNA family, which is potentially involved in alcohol-induced inflammation. Therefore, this study was designed to explore the association between these two polymorphisms and susceptibility to alcoholism or alcoholic liver disease (ALD). Methods We enrolled 301 male alcoholic patients and 156 healthy male volunteers in this study. Polymorphisms were genotyped by using TaqMan® PCR assays for allelic discrimination. Allelic and genotypic frequencies were compared between the two groups. Logistic regression analysis was performed to analyze the inheritance model. Results The A allele of the RASGRF2 polymorphism (rs26907) was significantly more prevalent among alcoholic patients with cirrhosis (23.2%) compared to alcoholic patients without ALD (14.2%). This difference remained significant in the group of patients with alcohol dependence (28.8% vs. 14.3%) but not in those with alcohol abuse (15.1% vs. 14.4%). Multivariable logistic regression analysis showed that the A allele of this polymorphism (AA or GA genotype) was associated with alcoholic cirrhosis both in the total group of alcoholics (odds ratio [OR]: 2.33, 95% confidence interval [CI]: 1.32–4.11; P = 0.002) and in the group of patients with alcohol dependence (OR: 3.1, 95% CI: 1.50–6.20; P = 0.001). Allelic distributions of the KRAS polymorphism (rs61764370) did not differ between the groups. Conclusions To our knowledge, this genetic association study represents the first to show an association of the RASGRF2 G>A (rs26907) polymorphism with ALD in men, particularly in the subgroup of patients with AD. The findings suggest the potential relevance of the RAS gene family in alcoholism and ALD

    Chroococcidiopsis from desert to Mars

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    Effects of nitrogen limitation and starvation on Chroococcidiopsis sp. (Chroococcales)

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    Chroococcidiopsis sp. cells from hot desert rock (Timna National Park, Israel) were grown in modified BG-11 medium which was either N-free or which contained different concentrations of nitrogen, provided as nitrate. The life cycle, ultrastructure and physiological activities of the cyanobacterium were investigated over a period of 4 months. No alterations were detected in cells grown in medium containing 250 or 125 μg N ml-1. In contrast, cells grown in medium with 62 μg N ml-1 or lacking nitrogen occurred only as isolated viable forms, after 3 months and 1 month of growth, respectively. In these cells a decrease in the content of cellular chlorophyll and phycocyanin paralleled undetectable O2 evolution and depressed O2 uptake. In addition, such isolated cells were characterized by a multilayered envelope, whereas, in the cytoplasm, vesiculated thylakoids and glycogen granules were observed. N-limited and N-starved cells recovered their cellular organization and physiological activities upon N repletion. These 'survival' cells had a spore-like form, and were functionally comparable to akinetes

    Seed structure in Crocus sativus L. x, C. cartwrightianus Herb., C. thomasii Ten. and C. hadriaticus Herb. at SEM

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    Crocus sativus L. (Iridaceae) is a sterile triploid geophyte widely cultivated for the production of the spice saffron and only reproduced by means of corms. Extensive research has identified Crocus cartwrightianus Herb. as being a probable progenitor of C. sativus. However, other diploid Crocus species of the same C. sativus group, such as C. thomasii Ten. and C. hadriaticus Herb., have been considered as possible progenitors of saffron. Of the characteristics for distinguishing critical genera, species and intraspecific taxa of angiosperms, the most widely adopted have been seed organisation and patterns of spermoderma microstructure detected at SEM. The aim of this study is to use SEM to analyse the seeds of C. sativus 9, a cross obtained by C. sativus with pollen of C. cartwrightianus Herb. and the seeds of allopollinated C. cartwrightianus, C. thomasii Ten., and C. hadriaticus Herb. Results indicate that the seed surface microstructure of C. sativus 9 is very similar to that of C. cartwrightianus while being different from those of C. thomasii and C. hadriaticu

    A meteorological station and a pollen trap at the botanical garden and arboretum of the University of Rome Tor Vergata

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    A completely automated meteorological station has been operating at the Botanical Garden and Arboretum of University of Rome Tor Vergata since 1991. As of March 1996, the meteorological station was integrated with a volumetric pollen trap. The new airborne pollen monitoring station operates all year round, together with another centre located in Latium. This new centre will evaluate pollen dispersal in relation to climatic data, floristic and anthesic spectra and the pollen allergy incidence in the south-eastern area of Rome. The characteristics of this new station along with the first data collected are presented and discussed. According to an educational program developed at the Botanical Garden, activities linked to allergenic plants have been carried out with primary and secondary school as well as university students
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