Gender in endocrine diseases: role of sex gonadal hormones

Gender- and sex- related differences represent a new frontier towards patient-tailored medicine, taking into account that theoretically every medical specialty can be influenced by both of them. Sex hormones define the differences between males and females, and the different endocrine environment promoted by estrogens, progesterone, testosterone, and their precursors might influence both human physiology and pathophysiology. With the term Gender we refer, instead, to behaviors, roles, expectations, and activities carried out by the individual in society. In other words, “gender” refers to a sociocultural sphere of the individual, whereas “sex” only defines the biological sex. In the last decade, increasing attention has been paid to understand the influence that gender can have on both the human physiology and pathogenesis of diseases. Even the clinical response to therapy may be influenced by sex hormones and gender, but further research is needed to investigate and clarify how they can affect the human pathophysiology. The path to a tailored medicine in which every patient is able to receive early diagnosis, risk assessments, and optimal treatments cannot exclude the importance of gender. In this review, we have focused our attention on the involvement of sex hormones and gender on different endocrine diseases

Developmental Expression of \u3cem\u3eDrop-Dead\u3c/em\u3e is Required for Early Adult Survival and Normal Body Mass in \u3cem\u3eDrosophila melanogaster\u3c/em\u3e

In Drosophila melanogaster, mutations in the gene drop-dead (drd) result in early adult lethality, with flies dying within 2 weeks of eclosion. Additional phenotypes include neurodegeneration, tracheal defects, starvation, reduced body mass, and female sterility. The cause of early lethality and the function of the drd protein remain unknown. In the current study, the temporal profiles of drd expression required for adult survival and body mass regulation were investigated. Knockdown of drd expression by UAS-RNAi transgenes and rescue of drd expression on a drd mutant background by a UAS-drd transgene were controlled with the Heat Shock Protein 70 (Hsp70)-Gal4 driver. Flies were heat-shocked at different stages of their life cycle, and the survival and body mass of the resulting adult flies were assayed. Surprisingly, the adult lethal phenotype did not depend upon drd expression in the adult. Rather, expression of drd during the second half of metamorphosis was both necessary and sufficient to prevent rapid adult mortality. In contrast, the attainment of normal adult body mass required a different temporal pattern of drd expression. In this case, manipulation of drd expression solely during larval development or metamorphosis had no effect on body mass, while knockdown or rescue of drd expression during all of pre-adult (embryonic, larval, and pupal) development did significantly alter body mass. Together, these results indicate that the adult-lethal gene drd is required only during development. Furthermore, the mutant phenotypes of body mass and lifespan are separable phenotypes arising from an absence of drd expression at different developmental stages

Neurodegeneration in \u3cem\u3eDrop-Dead\u3c/em\u3e Mutant \u3cem\u3eDrosophila melanogaster\u3c/em\u3e Is Associated with the Respiratory System but Not with Hypoxia

Mutations in the gene drop-dead (drd) cause diverse phenotypes in adult Drosophila melanogaster including early lethality, neurodegeneration, tracheal defects, gut dysfunction, reduced body mass, and female sterility. Despite the identification of the drd gene itself, the causes of early lethality and neurodegeneration in the mutant flies remain unknown. To determine the pattern of drd expression associated with the neurodegenerative phenotype, knockdown of drd with various Gal4 drivers was performed. Early adult lethality and neurodegeneration were observed upon knockdown of drd in the tracheal system with two independent insertions of the breathless-Gal4 driver and upon knockdown in the tracheal system and elsewhere with the DJ717-Gal4 driver. Surprisingly, rescue of drd expression exclusively in the tracheae in otherwise mutant flies rescued the neurodegenerative phenotype but not adult lethality. Gut dysfunction, as measured by defecation rate, was not rescued in these flies, and gut function appeared normal upon tracheal-specific knockdown of drd. Finally, the hypothesis that tracheal dysfunction in drd mutants results in hypoxia was tested. Hypoxia-sensitive reporter transgenes (LDH-Gal4 and LDH-LacZ) were placed on a drd mutant background, but enhanced expression of these reporters was not observed. In addition, manipulation of drd expression in the tracheae did not affect expression of the hypoxia-induced genes LDH, tango, and similar. Overall, these results indicate that there are at least two causes of adult lethality in drd mutants, that gut dysfunction and neurodegeneration are independent phenotypes, and that neurodegeneration is associated with tracheal expression of drd but not with hypoxia

Selected papers from the 15th Annual Bio-Ontologies special interest group meeting

© 2013 Soldatova et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.Over the 15 years, the Bio-Ontologies SIG at ISMB has provided a forum for discussion of the latest and most innovative research in the bio-ontologies development, its applications to biomedicine and more generally the organisation, presentation and dissemination of knowledge in biomedicine and the life sciences. The seven papers and the commentary selected for this supplement span a wide range of topics including: web-based querying over multiple ontologies, integration of data, annotating patent records, NCBO Web services, ontology developments for probabilistic reasoning and for physiological processes, and analysis of the progress of annotation and structural GO changes

Endocrine disrupting chemicals: Effects on endocrine glands

In recent years, endocrine disrupting chemicals have gained interest in human physiopathology and more and more studies aimed to explain how these chemicals compounds affect endocrine system. In human populations, the majority of the studies point toward an association between exposure to endocrine disrupting chemicals and the disorders affecting endocrine axis. A great number of endocrine disrupting chemicals seem to be able to interfere with the physiology of hypothalamus-pituitary-gonadal axis; however, every endocrine axis may be a target for each EDCs and their action is not limited to a single axis or organ. Several compounds may also have a negative impact on energy metabolic homeostasis altering adipose tissue and promoting obesity, metabolic syndrome, and diabetes. Different mechanism have been proposed to explain these associations but their complexity together with the degree of occupational or environmental exposure, the low standardization of the studies, and the presence of confounding factors have prevented to establish causal relationship between the endocrine disorders and exposure to specific toxicants so far. This manuscript aims to review the state of art of scientific literature regarding the effects of endocrine-disrupting chemicals (EDCs) on endocrine system

Mott Insulator to Superfluid transition in Bose-Bose mixtures in a two-dimensional lattice

We perform a numeric study (Worm algorithm Monte Carlo simulations) of ultracold two-component bosons in two-dimensional optical lattices. We study how the Mott insulator to superfluid transition is affected by the presence of a second superfluid bosonic species. We find that, at fixed interspecies interaction, the upper and lower boundaries of the Mott lobe are differently modified. The lower boundary is strongly renormalized even for relatively low filling factor of the second component and moderate (interspecies) interaction. The upper boundary, instead, is affected only for large enough filling of the second component. Whereas boundaries are renormalized we find evidence of polaron-like excitations. Our results are of interest for current experimental setups.Comment: 4 pages, 3 figures, accepted as PRA Rapid Communicatio

Il ruolo comunicativo del punto vendita nel «sistema moda»: un approccio semiotico al marketing

Il lavoro, di taglio teorico descrittivo, contribuisce alla letteratura sul marketing management nel settore della moda. Sulla scorta delle teorie della comunicazione di taglio semiotico viene offerta una chiave di lettura dei fenomeni di creazione di valore attraverso un approccio che enfatizzi l'interazione tra l'elevato contenuto semiotico della moda e l'importanza della distribuzione commerciale che coerentemente contribuisce al rafforzamento del valore della marca non solo dal di vista logistico. Emerge in tal senso la dimensione identitaria e quella d’immagine con riferimento al punto vendita, soprattutto nel comparto del lusso, nello stimolare il comportamento d'acquisto attraverso una comunicazione valoriale e simbolica che coinvolge il consumatore e amplifica i significati e i contenuti della sua esperienza di consumo di prodotto e dello stesso retail store

Gynecomastia and hormones

Gynecomastia-the enlargement of male breast tissue in men-is a common finding, frequently observed in newborns, adolescents, and old men. Physiological gynecomastia, occurring in almost 25 % of cases, is benign and self-limited; on the other hand, several conditions and drugs may induce proliferation of male breast tissue. True gynecomastia is a common feature often related to estrogen excess and/or androgen deficiency as a consequence of different endocrine disorders. Biochemical evaluation should be performed once physiological or iatrogenic gynecomastia has been ruled out. Non-endocrine illnesses, including liver failure and chronic kidney disease, are another cause of gynecomastia which should be considered. Treating the underlying disease or discontinuing medications might resolve gynecomastia, although the psychosocial burden of this condition might require different and careful consideration

"Magic" numbers in Smale's 7th problem

Smale's 7-th problem concerns N-point configurations on the 2-dim sphere which minimize the logarithmic pair-energy V_0(r) = -ln r averaged over the pairs in a configuration; here, r is the chordal distance between the points forming a pair. More generally, V_0(r) may be replaced by the standardized Riesz pair-energy V_s(r)= (r^{-s} -1)/s, which becomes - ln r in the limit s to 0, and the sphere may be replaced by other compact manifolds. This paper inquires into the concavity of the map from the integers N>1 into the minimal average standardized Riesz pair-energies v_s(N) of the N-point configurations on the 2-sphere for various real s. It is known that v_s(N) is strictly increasing for each real s, and for s<2 also bounded above, hence "overall concave." It is (easily) proved that v_{-2}(N) is even locally strictly concave, and that so is v_s(2n) for s<-2. By analyzing computer-experimental data of putatively minimal average Riesz pair-energies v_s^x(N) for s in {-1,0,1,2,3} and N in {2,...,200}, it is found that {v}_{-1}^x(N) is locally strictly concave, while v_s^x(N) is not always locally strictly concave for s in {0,1,2,3}: concavity defects occur whenever N in C^{x}_+(s) (an s-specific empirical set of integers). It is found that the empirical map C^{x}_+(s), with s in {-2,-1,0,1,2,3}, is set-theoretically increasing; moreover, the percentage of odd numbers in C^{x}_+(s), s in {0,1,2,3}, is found to increase with s. The integers in C^{x}_+(0) are few and far between, forming a curious sequence of numbers, reminiscent of the "magic numbers" in nuclear physics. It is conjectured that the "magic numbers" in Smale's 7-th problem are associated with optimally symmetric optimal-energy configurations.Comment: 109 pages, of which 30 are numerical data tables. Thoroughly revised version, to appear in J. Stat. Phys. under the different title: `Optimal N point configurations on the sphere: "Magic" numbers and Smale's 7th problem