478 resultados para Gonadal-dysgenesis


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Maternal effects are a mother¿s non-genetic contributions to development that alter phenotypic traits in offspring. Maternal effects can take the form of prenatal allocation of resources, such as the deposition of androgens into egg yolks. For example, elevated yolk testosterone increases male sexual behaviors such as copulation solicitation and courtship displays in some avian species, in addition to aggressive behaviors like pecks and intimidating postures towards same-sex competitors. However, the mechanism connecting in ovo testosterone exposure with changes in sexual and aggressive behaviors has yet to be elucidated. While testosterone released by the gonads is important in the activation of sexual behaviors, it must undergo conversion to estrogen by the enzyme aromatase in the pre-optic area (POA) of the avian brain for full expression of sexual activity. POA aromatase is also necessary for the activation of aggressive behaviors in male birds. This experiment tested the hypothesis that elevated yolk testosterone leads to changes in POA aromatase activity and levels of gonadal testosterone, as these two endocrine parameters may mediate the effect of yolk testosterone on the frequency of sexual and aggressive behaviors. The effect of elevated yolk testosterone on gonadal testosterone levels and aromatase activity in the POA of 3-day-old domestic chickens Gallus gallus domesticus was investigated. Unincubated eggs were injected with either 10 ng testosterone in 50 ¿L sesame oil (¿T chicks¿) or 50 ¿L sesame oil (¿C chicks¿). At 3 days post-hatch, gonadal testosterone content was measured after steroid extraction using an EIA, and aromatase activity in the POA was quantified by measuring the production of tritiated water from [1ß-3H]-androstenedione. I predicted that gonadal testosterone levels and brain aromatase activity would be higher in T chicks, however found no difference between treatments. Though juvenile T production peaks at 3 days post-hatch, it is possible that the reproductive systems, including the testes and POA, are not fully developed at this time.

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The adequate replacement dose of estrogens during infancy and childhood is still not known in girls. Aromatase deficiency offers an excellent model to study how much estrogens are needed during infancy, childhood and adulthood.

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To optimize fertility advice in patients with Hodgkin lymphoma (HL) before therapy and during survivorship, information on the impact of chemotherapy is needed. Therefore, we analyzed gonadal functions in survivors of HL.

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In the HD14 trial, 2×BEACOPPescalated+2×ABVD (2+2) has improved the primary outcome. Compared with 4×ABVD, this benefit might be compromised by more infertility in women. Therefore, we analyzed gonadal function and fertility.

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This paper addresses the problem of estimating postoperative cup alignment from single standard X-ray radiograph with gonadal shielding. The widely used procedure of evaluation of cup orientation following total hip arthroplasty using single standard anteroposterior radiograph is known inaccurate, largely due to the wide variability in individual pelvic position relative to X-ray plate. 2D-3D image registration methods have been introduced to estimate the rigid transformation between a preoperative CT volume and postoperative radiograph(s) for an accurate estimation of the postoperative cup alignment relative to an anatomical reference extracted from the CT data. However, these methods require either multiple radiographs or a radiograph-specific calibration, both of which are not avaiable for most retrospective studies. Furthermore, these methods were only evaluated on X-ray radiograph(s) without gonadal shielding. In this paper, we propose to use a hybrid 2D-3D registration scheme combining an iterative landmark-to-ray registration with a 2D-3D intensity-based registration to estimate the rigid transfromation for a precise estimation of cup alignment. Quantitative and qualitative results evaluated on clinical and cadaveric datasets are given which indicate the validity of our approach.

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There is considerable evidence from animal studies that gonadal steroid hormones modulate neuronal activity and affect behavior. To study this in humans directly, we used H215O positron-emission tomography to measure regional cerebral blood flow (rCBF) in young women during three pharmacologically controlled hormonal conditions spanning 4–5 months: ovarian suppression induced by the gonadotropin-releasing hormone agonist leuprolide acetate (Lupron), Lupron plus estradiol replacement, and Lupron plus progesterone replacement. Estradiol and progesterone were administered in a double-blind cross-over design. On each occasion positron-emission tomography scans were performed during (i) the Wisconsin Card Sorting Test, a neuropsychological test that physiologically activates prefrontal cortex (PFC) and an associated cortical network including inferior parietal lobule and posterior inferolateral temporal gyrus, and (ii) a no-delay matching-to-sample sensorimotor control task. During treatment with Lupron alone (i.e., with virtual absence of gonadal steroid hormones), there was marked attenuation of the typical Wisconsin Card Sorting Test activation pattern even though task performance did not change. Most strikingly, there was no rCBF increase in PFC. When either progesterone or estrogen was added to the Lupron regimen, there was normalization of the rCBF activation pattern with augmentation of the parietal and temporal foci and return of the dorsolateral PFC activation. These data directly demonstrate that the hormonal milieu modulates cognition-related neural activity in humans.

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During male gonadal development Müllerian duct regression is mediated by the actions of the hormone Müllerian inhibiting substance (MIS), a member of the transforming growth factor beta superfamily. MIS is considered to be unique among members of this superfamily because bioactivation of MIS via proteolytic processing is hypothesized to occur at its target organ, the Müllerian duct. We find instead that the majority of MIS is processed and secreted from the embryonic testes as a complex in which the mature region remains noncovalently associated with the prodomain. In addition, we have identified two candidate endoproteases that are expressed in the testes and that may be capable of processing MIS in vivo. These kex2/subtilisin-like enzymes, PC5 and furin, are members of the proprotein convertase family that have been implicated in hormone bioactivation via proteolytic processing after dibasic amino acid cleavage recognition sites. Coexpression of PC5 and MIS in transfected mammalian cells results in efficient processing and bioactivation of MIS. Our results suggest that MIS is a natural substrate for PC5, thereby supporting a role for prohormone convertases in the activation of transforming growth factor beta-related hormones during development.

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We describe a system of hybrid dysgenesis in Drosophila virilis in which at least four unrelated transposable elements are all mobilized following a dysgenic cross. The data are largely consistent with the superposition of at least three different systems of hybrid dysgenesis, each repressing a different transposable element, which break down following the hybrid cross, possibly because they share a common pathway in the host. The data are also consistent with a mechanism in which mobilization of a single element triggers that of others, perhaps through chromosome breakage. The mobilization of multiple, unrelated elements in hybrid dysgenesis is reminiscent of McClintock's evidence [McClintock, B. (1955) Brookhaven Symp. Biol. 8, 58-74] for simultaneous mobilization of different transposable elements in maize.

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Mice thymectomized at three days of age (D3Tx) develop during adulthood a variety of organ-specific autoimmune diseases, including autoimmune ovarian dysgenesis (AOD). The phenotypic spectrum of AOD is characterized by the development of anti-ovarian autoantibodies, oophoritis, and atrophy. The D3Tx model of AOD is unique in that disease induction depends exclusively on perturbation of the normal developing immune system, is T-cell-mediated, and is strain specific. For example, D3Tx A/J mice are highly susceptible to AOD, whereas C57BL/6J mice are resistant. After D3Tx, self ovarian antigens, expressed at physiological levels, trigger an autoimmune response capable of eliciting disease. The D3Tx model provides, therefore, the opportunity to focus on the mechanisms of self-tolerance that are relevant to disease pathogenesis. Previous studies indicate that the principal mechanisms involved in AOD susceptibility are genetically controlled and govern developmental processes associated with the induction and maintenance of peripheral tolerance. We report here the mapping of the Aod1 locus to mouse chromosome 16 within a region encoding several loci of immunologic relevance, including scid, Igl1, VpreB, Igll, Igl1r, Mtv6 (Mls-3), Ly-7, Ifnar, and Ifgt.

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Para el estudio de la gametogénesis, escala de madurez y estimación de la talla de primera madurez gonadal de “navaja” Tagelus dombeii, las muestras procedieron de las zonas Caleta de Parachique y Las Delicias, y fueron colectadas a bordo de embarcaciones marisqueras por buzos artesanales, durante Enero – Diciembre del año 2009. La zona para tomar las muestras comprendieron desde los grados 05º 40' 33.3'' (LS) hasta 05º 49' 21.8'' (LS). En el estudio de la gametogénesis, se observó que los ovarios presentaron tres tipos de ovocitos: ovocito inmaduro (OI), ovocito en maduración (OEM) y ovocito maduro (OM), además del ovocito atrésico (OA) para las hembras, mientras que para los machos las células sexuales encontradas fueron: espermatogonio = SG, espermatocito = SC y espermatozoide = SP. La escala microscópica de madurez gonadal para “navaja” T. dombeii fue establecida con seis estadios, siendo estos: Virginal = 0, Reposo = I, En Maduración = II, Maduro =III, Desovante/Expulsante = IV y Recuperación = V. Así mismo, se estableció, que la talla de primera madurez gonadal es de 61 mm de longitud total (LT) para las hembras y 58 mm para machos, obteniendo un promedio de 58 mm LT. Mientras que la talla de primer desove/expulsión fue de: 67 mm (LT) para hembras y 66 mm LT para machos siendo promedio para ambos sexos de 66 mm LT. Además, se reporta la capacidad de T. dombeii de cambiar el sexo de hembra a macho (hermafroditismo protógino).

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Background. A disintegrin and metalloproteinase with thrombospondin motifs 1, Adamts-1, is important for the development and function of the kidney. Mice lacking this protein present with renal lesions comprising enlarged calyces, and reduced cortex and medulla layers. Our current findings are consistent with the defect occurring due to a developmental dysgenesis. Methods. We generated Adamts-1 null mice, and further investigated their kidney phenotype in a time course study ranging from E18.5 to 12 months of age. Immunohistochemistry was used to assess the localization of type IV collagen, TGF-beta and F4/80-positive macrophages in the kidneys of Adcants-1 null mice compared to wild-type control animals. The expression of Adamts-1 mRNA was determined in metanephric kidney explants by in situ hybridization. Results. Adamts-1 null mice have a gross kidney defect. At day 18.5 of gestation, the Adcants-1 null kidney has a normal appearance but at birth when the kidney begins to function, the defect becomes evident. During development of the kidney Adamts-1 expression was specifically detected in the developing loops of Henle, as well as in the proximal and distal convoluted tubules. Expression was not detected in the ureter, ureteric bud or its derivatives as had been previously suggested. At 6 months and I year of age, the Adamts-1 null mice displayed interstitial fibrosis in the cortical and medullary regions of the kidney. At I year of age, the Adamts-1 null mice displayed mild interstitial matrix expansion associated with increased collagen type IV expression, without apparent tubular dilatation, compared to wild-type animals. Immunohistochemical analysis demonstrated TGF-beta protein localized to infiltrating macrophages and glomeruli of Adamts-1 null mice. Conclusions. Adamts-1 is required for the normal development of the kidney. The defect observed in its absence results from a dysgenic malformation affecting the medulla that becomes apparent at birth, once the kidneys start to function.