Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia

Pubertal gynecomastia is a common condition observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1–2 years. In this descriptive cross-sectional study, we investigated 25 adolescent males with prominent (>B3) and/or persistent (>2 years) pubertal gynecomastia (P/PPG) to determine whether a hormonal/genetic defect might underline this condition. Endocrine investigation revealed the absence of hormonal disturbance for 18 boys (72%). Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (PAIS) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene. The last patient showed a 17α-hydroxylase/17,20-lyase deficiency as a result of a compound heterozygous mutation of the CYP17A1 gene leading to p.Pro35Thr(P35T) and p.Arg239Stop(R239X) in the P450c17 protein. Enzymatic activity was analyzed: the mutant protein bearing the premature stop codon R239X showed a complete loss of 17α-hydroxylase and 17,20-lyase activity. The mutant P35T seemed to retain 15–20% of 17α-hydroxylase and about 8–10% of 17,20-lyase activity. This work demonstrates that P/PPG had an endocrine/genetic cause in 28% of our cases. PAIS may be expressed only by isolated gynecomastia as well as by 17α-hydroxylase/17,20-lyase deficiency. Isolated P/PPG is not always a ‘physiological’ condition and should thus be investigated through adequate endocrine and genetic investigations, even though larger studies are needed to better determine the real prevalence of genetic defects in such patients

Education and older adults at the University of the Third Age

This article reports a critical analysis of older adult education in Malta. In educational gerontology, a critical perspective demands the exposure of how relations of power and inequality, in their myriad forms, combinations, and complexities, are manifest in late-life learning initiatives. Fieldwork conducted at the University of the Third Age (UTA) in Malta uncovered the political nature of elder-learning, especially with respect to three intersecting lines of inequality - namely, positive aging, elitism, and gender. A cautionary note is, therefore, warranted at the dominant positive interpretations of UTAs since late-life learning, as any other education activity, is not politically neutral.peer-reviewe

Impact of child sex abuse on adult psychopathology: A genetically and epigenetically informed investigation

Genetic, environmental, and epigenetic influences and their transactions were examined in a sample of 155 women from the Iowa adoptee sample who had been removed from their biological parents shortly after birth and assessed when participants were an average of 41.10 years old. We observed an interactive effect of child sex abuse (CSA) and biological parent psychopathology (i.e., genetic load) on substance abuse as well as a main effect of CSA on substance abuse in adulthood. We also observed main effects of CSA and genetic load on depression and on antisocial characteristics. As predicted, CSA, but not genetic load or later substance abuse, was associated with epigenetic change. In addition, the interaction between genetic load and CSA predicted epigenetic change, indicating a potential genetic basis for a differential impact of CSA on epigenetic change. Finally, epigenetic change partially mediated the effect of CSA on antisocial characteristics. The results suggest the relevance of genetic and epigenetic processes for future theorizing regarding marital and family precursors of several forms of adult psychopathology. Implications for preventive intervention are discussed

Diffusion and jump-length distribution in liquid and amorphous Cu33_{33}Zr67_{67}

Using molecular dynamics simulation, we calculate the distribution of atomic jum ps in Cu$_{33}$Zr$_{67}$ in the liquid and glassy states. In both states the distribution of jump lengths can be described by a temperature independent exponential of the length and an effective activation energy plus a contribution of elastic displacements at short distances. Upon cooling the contribution of shorter jumps dominates. No indication of an enhanced probability to jump over a nearest neighbor distance was found. We find a smooth transition from flow in the liquid to jumps in the g lass. The correlation factor of the diffusion constant decreases with decreasing temperature, causing a drop of diffusion below the Arrhenius value, despite an apparent Arrhenius law for the jump probability

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

More than 50% of children with severe 46,XY disorders of sex development (DSD) do not have a definitive etiological diagnosis. Besides gonadal dysgenesis, defects in androgen biosynthesis, and abnormalities in androgen sensitivity, the Mastermind-like domain containing 1 (MAMLD1) gene, which was identified as critical for the development of male genitalia, may be implicated. The present study investigated whether MAMLD1 is implicated in cases of severe 46,XY DSD and whether routine sequencing of MAMLD1 should be performed in these patients

Effets d’une finition des agneaux à l’herbe sur les qualités nutritionnelles et gustatives de la viande

This study was carried out within the framework of the ECOLAGNO project which focuses on lambmeat production according to agro ecological practices. Two experiments were conducted for two successive yearsby the interregional center of information and research on ovine production (CIIRPO) in order to measure the effectof the type of lamb fattening on sensory and nutritional qualities of their meat, and on breeding performances. In2016 and 2017, three groups of 30 suckled lambs on pasture, weaned at 125 days of age, were compared. Thecontrol group was fattened with concentrated feed indoors and the other two groups were grass-fed in order tofinish lambs only on grass, either within a continuous grazing system on plots with multispecies crops such asgrass, legumes and tannin-rich plants or with cellular grazing. There were little differences between the threegroups for lamb breeding performances and carcass qualities. On average 50 kg RM of concentrated feed weresaved per lamb fattened on pasture. Grazing did not alter odor or flavor of lamb chops. However, the fatty acidprofile of meat was improved for grass-fed animals.Cette étude a été menée dans le cadre du projet ECOLAGNO s’intéressant à la production de vianded’agneau selon des pratiques agro-écologiques. Deux essais conduits sur deux années consécutives par le CentreInterrégional d’Information et de Recherche en Production Ovine (CIIRPO) avaient pour objectif de mesurerl’impact du mode de finition des agneaux, à l’herbe ou en bergerie, sur les qualités gustatives et nutritionnelles dela viande, ainsi que sur les aspects zootechniques. En 2016 et 2017, trois lots de 30 agneaux à l’herbe, allaitéspuis sevrés à 125 jours, ont été comparés. Le témoin était fini en bergerie avec un aliment concentré, les deuxautres au pâturage dans l’objectif de finir les agneaux exclusivement avec de l’herbe : l’un en pâturage continu surdes parcelles multi-espèces composées de graminées, légumineuses et plantes riches en tanins ; l’autre enpâturage cellulaire. Les performances zootechniques et les qualités de la carcasse des agneaux sont peudifférentes entre les trois lots. L’économie de concentré s’est située en moyenne à 50 kg brut par agneau avec unefinition à l’herbe. Il n’y a pas eu de dégradation de l’odeur ou de la flaveur des côtelettes lors des finitions aupâturage ; en revanche, le profil en acides gras des viandes a été amélioré

Hospitalists in Teaching Hospitals: Opportunities but Not Without Danger

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/73210/1/j.1525-1497.2004.42002.x.pd

Effect of strain on surface diffusion in semiconductor heteroepitaxy

We present a first-principles analysis of the strain renormalization of the cation diffusivity on the GaAs(001) surface. For the example of In/GaAs(001)-c(4x4) it is shown that the binding of In is increased when the substrate lattice is expanded. The diffusion barrier \Delta E(e) has a non-monotonic strain dependence with a maximum at compressive strain values (e 0) studied. We discuss the consequences of spatial variations of both the binding energy and the diffusion barrier of an adatom caused by the strain field around a heteroepitaxial island. For a simplified geometry, we evaluate the speed of growth of two coherently strained islands on the GaAs(001) surface and identify a growth regime where island sizes tend to equalize during growth due to the strain dependence of surface diffusion.Comment: 10 pages, 8 figures, LaTeX2e, to appear in Phys. Rev. B (2001). Other related publications can be found at http://www.rz-berlin.mpg.de/th/paper.htm