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Sample records for abnormal sex development

  1. Numerical sex chromosome aberrations and abnormal sex development in horse and sheep.

    PubMed

    Di Meo, G P; Neglia, G; Perucatti, A; Genualdo, V; Iannuzzi, A; Crocco, D; Incarnato, D; Romano, G; Parma, P; Iannuzzi, L

    2009-01-01

    Gonadal dysgenesis and heterosexual conditions are often associated with sex chromosome abnormalities. In this study we report on 2 cases of abnormal sex development involving numerical sex chromosome aberrations in both horse and sheep. A 17-month-old Standardbred filly was sent to an equine fertility centre as an embryo donor due to its reduced size, being much smaller than a racehorse filly of the same age, which excluded it from an athletic career. External genitalia were clinically normal but manual palpation of the reproductive tract showed the presence of a small underdeveloped uterus and ovaries, as confirmed by ultrasonographic examination. Cytogenetic investigation by CBA-banding revealed an abnormal karyotype with X chromosome monosomy (2n = 63,X). A 18-month-old ewe showed distinct heterosexual traits with presence of a vulva (with enlarged clitoris), well-developed abdominal testes and mammary glands. Internal sex adducts were atrophic as seen after mating. Cytogenetic analysis revealed the presence of XX/XY mosaicism. PMID:20110649

  2. Abnormal human sex chromosome constitutions

    SciTech Connect

    1993-12-31

    Chapter 22, discusses abnormal human sex chromosome constitution. Aneuploidy of X chromosomes with a female phenotype, sex chromosome aneuploidy with a male phenotype, and various abnormalities in X chromosome behavior are described. 31 refs., 2 figs.

  3. The XXXXY Sex Chromosome Abnormality

    PubMed Central

    Barr, M. L.; Carr, D. H.; Pozsonyi, J.; Wilson, R. A.; Dunn, H. G.; Jacobson, T. S.; Miller, J. R.; Chown, B.

    1962-01-01

    The most common sex chromosome complex in sex chromatin-positive males with Klinefelter's syndrome is XXY. When the complex is XXYY or XXXY, the clinical findings do not seem to differ materially from those seen in XXY subjects, although more patients with these intersexual chromosome complements need to be studied to establish possible phenotypical expressions of the chromosomal variants. Two male children with an XXXXY sex chromosome abnormality are described. The data obtained from the study of these cases and five others described in the literature suggest that the XXXXY patient is likely to have congenital defects not usually seen in the common form of the Klinefelter syndrome. These include a triad of (1) skeletal anomalies (including radioulnar synostosis), (2) hypogenitalism (hypoplasia of penis and scrotum, incomplete descent of testes and defective prepubertal development of seminiferous tubules), and (3) greater risk of severe mental deficiency. That the conclusions are based on data from a small number of patients is emphasized, together with the need for a cytogenetic survey of a large control or unselected population. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8Fig. 9Fig. 10 PMID:13969480

  4. Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development.

    PubMed

    Fukami, Maki; Homma, Keiko; Hasegawa, Tomonobu; Ogata, Tsutomu

    2013-04-01

    We review the current knowledge about the "backdoor" pathway for the biosynthesis of dihydrotestosterone (DHT). While DHT is produced from cholesterol through the conventional "frontdoor" pathway via testosterone, recent studies have provided compelling evidence for the presence of an alternative "backdoor" pathway to DHT without testosterone intermediacy. This backdoor pathway is known to exist in the tammar wallaby pouch young testis and the immature mouse testis, and has been suggested to be present in the human as well. Indeed, molecular analysis has identified pathologic mutations of genes involved in the backdoor pathway in genetic male patients with undermasculinized external genitalia, and urine steroid profile analysis has argued for the relevance of the activated backdoor pathway to abnormal virilization in genetic females with cytochrome P450 oxidoreductase deficiency and 21-hydroxylase deficiency. It is likely that the backdoor pathway is primarily operating in the fetal testis in a physiological condition to produce a sufficient amount of DHT for male sex development, and that the backdoor pathway is driven with a possible interaction between fetal and permanent adrenals in pathologic conditions with increased 17-hydroxyprogesterone levels. These findings provide novel insights into androgen biosynthesis in both physiological and pathological conditions. PMID:23073980

  5. Sex differences in abnormal white matter development associated with conduct disorder in children.

    PubMed

    Decety, Jean; Yoder, Keith J; Lahey, Benjamin B

    2015-08-30

    Associations between white matter pathway abnormalities and antisocial personality disorder in adults are well replicated, and there is some evidence for an association of white matter abnormalities with conduct disorder (CD) in adolescents. In this study, white matter maturation using diffusion tensor imaging (DTI) was examined in 110 children aged 10.0 ± 0.8 years selected to vary widely in their numbers of CD symptoms. The results replicated age-related increases in fractional anisotropy (FA) found in previous studies. There was not a significant association between the number of CD symptoms and FA, but CD symptoms were found to be significantly associated with greater axial and radial diffusivity in a broad range of white matter tracts, particularly in girls. In complementary analyses, there were similar significant differences in axial and radial diffusivity between children who met diagnostic criteria for CD and healthy children with no symptoms of CD, particularly in girls. Brain structural abnormalities may contribute to the emergence of CD in childhood, perhaps playing a greater role in girls. PMID:26195297

  6. Abnormal sex-duct development in female moles: the role of anti-Müllerian hormone and testosterone.

    PubMed

    Zurita, Federico; Barrionuevo, Francisco J; Berta, Philippe; Ortega, Esperanza; Burgos, Miguel; Jiménez, Rafael

    2003-09-01

    We have performed a morphological, hormonal and molecular study of the development of the sex ducts in the mole Talpa occidentalis. Females develop bilateral ovotestes with a functional ovarian portion and disgenic testicular tissue. The Müllerian ducts develop normally in females and their regression is very fast in males, suggesting a powerful action of the anti-Müllerian hormone in the mole. RT-PCR demonstrated that the gene governing this hormone begins to be expressed in males coinciding with testis differentiation, and expression continues until shortly after birth. Immunohistochemical studies showed that expression occurs in the Sertoli cells of testes. No expression was detected in females. Wolffian duct development was normal in males and degenerate in prenatal females, but developmental recovery after birth gave rise to the formation of rudimentary epididymides. This event coincides in time with increasing serum testosterone levels and Leydig cell differentiation in the female gonad, thus suggesting that testosterone produced by the ovotestes is responsible for masculinisation of female moles. During postnatal development, serum testosterone concentrations decreased in males but increased in females, thus approaching the levels that adult males and females have during the non-breeding season. PMID:14584782

  7. Cognitive and Academic Skills in Children with Sex Chromosome Abnormalities.

    ERIC Educational Resources Information Center

    Bender, Bruce G.; And Others

    1991-01-01

    Follows 46 unselected children with various sex chromosome abnormalities using intellectual, language, and achievement testing. Notes that, although most children were not mentally retarded, most received special education help. Finds support for the inference that learning disorders were genetically mediated in this group. (RS)

  8. 46,XY disorders of sex development (DSD).

    PubMed

    Mendonca, Berenice Bilharinho; Domenice, Sorahia; Arnhold, Ivo J P; Costa, Elaine M F

    2009-02-01

    The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or disorders of sex differentiation leading to 46,XY DSD. Detailed clinical phenotypes allow the identification of new factors that can alter the expression or function of mutated proteins helping to understand new undisclosed biochemical pathways. In this review we present an update on 46,XY DSD aetiology, diagnosis and treatment based on extensive review of the literature and our three decades of experience with these patients. PMID:18811725

  9. Abnormal sex ratios in human populations: Causes and consequences

    PubMed Central

    Hesketh, Therese; Xing, Zhu Wei

    2006-01-01

    In the absence of manipulation, both the sex ratio at birth and the population sex ratio are remarkably constant in human populations. Small alterations do occur naturally; for example, a small excess of male births has been reported to occur during and after war. The tradition of son preference, however, has distorted these natural sex ratios in large parts of Asia and North Africa. This son preference is manifest in sex-selective abortion and in discrimination in care practices for girls, both of which lead to higher female mortality. Differential gender mortality has been a documented problem for decades and led to reports in the early 1990s of 100 million “missing women” across the developing world. Since that time, improved health care and conditions for women have resulted in reductions in female mortality, but these advances have now been offset by a huge increase in the use of sex-selective abortion, which became available in the mid-1980s. Largely as a result of this practice, there are now an estimated 80 million missing females in India and China alone. The large cohorts of “surplus” males now reaching adulthood are predominantly of low socioeconomic class, and concerns have been expressed that their lack of marriageability, and consequent marginalization in society, may lead to antisocial behavior and violence, threatening societal stability and security. Measures to reduce sex selection must include strict enforcement of existing legislation, the ensuring of equal rights for women, and public awareness campaigns about the dangers of gender imbalance. PMID:16938885

  10. Limb malformations and abnormal sex hormone concentrations in frogs.

    PubMed Central

    Sower, S A; Reed, K L; Babbitt, K J

    2000-01-01

    Declines in amphibian populations, and amphibians with gross malformations, have prompted concern regarding the biological status of many anuran species. A survey of bullfrogs, Rana catesbeiana, and green frogs, Rana clamitans, conducted in central and southern New Hampshire showed malformed frogs at 81% of the sites sampled (13 of 16 sites). Brain gonadotropin-releasing hormone (GnRH) and the synthesis of androgens and estradiol, hormones essential to reproductive processes, were measured from limb-malformed and normal (no limb malformation) frogs. Normal frogs had significantly higher concentrations (nearly 3-fold) of in vitro produced androgens and of brain GnRH than malformed frogs. Because most malformations are thought to occur during development, we propose that environmental factors or endocrine-disrupting chemicals that may cause developmental abnormalities also act during early development to ultimately cause abnormally reduced GnRH and androgen production in adult frogs. The consequences of reduced GnRH and androgens on anuran reproductive behavior and population dynamics are unknown but certainly may be profound and warrant further research. PMID:11102301

  11. Head circumference and IQ of children with sex chromosome abnormalities.

    PubMed

    Ratcliffe, S G; Masera, N; Pan, H; McKie, M

    1994-06-01

    At all ages XXX girls had significantly smaller head circumferences than control girls. Their IQ deficit was 24 points and IQ at age seven correlated significantly with head circumference at birth. In XXY boys, head circumference was significantly reduced at birth and up to nine years of age. The XXY boys' IQ deficit was 22 points, but IQ did not correlate with head circumference, as reductions in the two parameters did not always occur in tandem. The ratio of height-to-head circumference differed most in this group and could be useful in clinical recognition of this condition. XYY boys' head size did not differ from controls, despite their greater height, lower IQ scores indicating an adverse effect of an additional Y chromosome on brain development. The major factor affecting IQ outcome in the cohort was abnormal karyotype, with smaller effects from social class and head growth. PMID:8005365

  12. How Sex Attitudes Develop

    ERIC Educational Resources Information Center

    Arnstein, Helene S.

    1976-01-01

    Excerpt from "The Roots of Love" (Helene S. Arnstein, 1975). Book is concerned with feelings that are part of child's developmental stages. Included in excerpt are: genital self-discovery, masturbation, discovery of sex differences, and birth fantasies. Stresses importance of parent's feelings which are communicated to child.

  13. Developmental abnormalities of the gonad and abnormal sex hormone concentrations in juvenile alligators from contaminated and control lakes in Florida.

    PubMed Central

    Guillette, L J; Gross, T S; Masson, G R; Matter, J M; Percival, H F; Woodward, A R

    1994-01-01

    The reproductive development of alligators from a contaminated and a control lake in central Florida was examined. Lake Apopka is adjacent to an EPA Superfund site, listed due to an extensive spill of dicofol and DDT or its metabolites. These compounds can act as estrogens. Contaminants in the lake also have been derived from extensive agricultural activities around the lake that continue today and a sewage treatment facility associated with the city of Winter Garden, Florida. We examined the hypothesis that an estrogenic contaminant has caused the current failure in recruitment of alligators on Lake Apopka. Supporting data include the following: At 6 months of age, female alligators from Lake Apopka had plasma estradiol-17 beta concentrations almost two times greater than normal females from the control lake, Lake Woodruff. The Apopka females exhibited abnormal ovarian morphology with large numbers of polyovular follicles and polynuclear oocytes. Male juvenile alligators had significantly depressed plasma testosterone concentrations comparable to levels observed in normal Lake Woodruff females but more than three times lower than normal Lake Woodruff males. Additionally, males from Lake Apopka had poorly organized testes and abnormally small phalli. The differences between lakes and sexes in plasma hormone concentrations of juvenile alligators remain even after stimulation with luteinizing hormone. Our data suggest that the gonads of juveniles from Lake Apopka have been permanently modified in ovo, so that normal steroidogenesis is not possible, and thus normal sexual maturation is unlikely. Images p680-a Figure 1. Figure 2. Figure 3. A Figure 3. B Figure 3. C Figure 4. A Figure 4. B Figure 4. C Figure 4. D Figure 5. A Figure 5. B Figure 5. C PMID:7895709

  14. X Chromosome Abnormalities and Cognitive Development: Implications for Understanding Normal Human Development.

    ERIC Educational Resources Information Center

    Walzer, Stanley

    1985-01-01

    Argues that knowledge from studies of individuals with sex chromosome abnormalities can further understanding of aspects of normal human development. Studies of XO girls, XXY boys, XXX girls, and males with a fragile X chromosome are summarized to demonstrate how results contribute to knowledge about normal cognitive development and about…

  15. X Chromosome Abnormalities and Cognitive Development: Implications for Understanding Normal Human Development.

    ERIC Educational Resources Information Center

    Walzer, Stanley

    1985-01-01

    Argues that knowledge from studies of individuals with sex chromosome abnormalities can further understanding of aspects of normal human development. Studies of XO girls, XXY boys, XXX girls, and males with a fragile X chromosome are summarized to demonstrate how results contribute to knowledge about normal cognitive development and about…

  16. Gonadal and Sex Differentiation Abnormalities of Dogs and Cats

    PubMed Central

    Meyers-Wallen, V.N.

    2012-01-01

    The molecular steps in normal sexual development were largely discovered by studying patients and animal models with disorders of sexual development (DSD). Although several types of DSD have been reported in the cat and dog, which are often strikingly similar to human DSD, these have been infrequently utilized to contribute to our knowledge of mammalian sexual development. Canine and feline cases of DSD with sufficient evidence to be considered as potential models are summarized in this report. The consensus DSD terminology, and reference to previous terminology, is used to foster adoption of a common nomenclature that will facilitate communication and collaboration between veterinarians, physicians, and researchers. To efficiently utilize these unique resources as molecular tools continue to improve, it will be helpful to deposit samples from valuable cases into repositories where they are available to contribute to our understanding of sexual development, and thus improve human and animal health. PMID:22005097

  17. Comparison of Abnormal Cervical Cytology from HIV Positive Women, Female Sex Workers and General Population

    PubMed Central

    Vafaei, Homeira; Asadi, Nasrin; Foroughinia, Leila; Salehi, Alireza; Kuhnavard, Safieh; Akbarzadeh, Mojgan; Ravanbod, Hamid Reza; Mohamadalian, Ferdos; Kasraeian, Maryam

    2015-01-01

    Background Sex workers and HIV seropositive women are at high risk of abnormal cervical cytology. The objective of this study was to compare the cervical cytology among three groups of women: active sex workers, HIV-infected women, and general population in Iran. Methods This was a cross-sectional study performed in Hazrat Zeinab, Lavan clinics and drop in center (DIC) in Shiraz, Iran. This study was performed from October 2009 to October 2011. A total of 266 patients were assigned into three groups: sex-workers (85), HIV positive patients (100), and general population (81). Pap smear was performed for all participants from the exocervix and endocervix, using a plastic Ayres’s spatula and cytobrush. The samples were sent to a pathology center, using a liquid-based media.  Results The risk of cervical infection in sex workers and HIV positive women was greater than the general population (OR=5.47, 95% confidence interval [CI]:2.24, 13.40), (OR=3.71, 95% CI:1.52, 9.09), respectively. The frequency of abnormal cervical cytology in the HIV positive and sex worker groups was higher than the general population (OR=6. 76, 95% CI:2.25, 20.32), (OR=3. 80, 95% CI:1.19, 12.07), respectively. Low-grade squamous intraepithelial lesion (LSIL) and high-grade squamous intraepithelial lesion (HSIL) were associated with CD4 cell count<200Í106/L, P=0.021 and P<0.001, respectively. Conclusion Vaginal infections were seen more often in the sex worker group, and abnormal cervical cytology was greater in the HIV positive group. PMID:26005687

  18. Disorders of sexual development and abnormal early development in domestic food-producing mammals: the role of chromosome abnormalities, environment and stress factors.

    PubMed

    Favetta, L A; Villagómez, D A F; Iannuzzi, L; Di Meo, G; Webb, A; Crain, S; King, W A

    2012-01-01

    The management of disorders of sexual development (DSD) in humans and domestic animals has been the subject of intense interest for decades. The association between abnormal chromosome constitutions and DSDs in domestic animals has been recorded since the beginnings of conventional cytogenetic analysis. Deviated karyotypes consisting of abnormal sex chromosome sets and/or the coexistence of cells with different sex chromosome constitutions in an individual seem to be the main causes of anomalies of sex determination and sex differentiation. In recent years, a growing interest has developed around the environmental insults, such as endocrine-disrupting compounds (EDC) and heat stressors, which affect fertility, early embryonic development and, in some instances, directly the sex ratio and/or the development of 1 specific sex versus the other. A variety of chemical compounds present in the environment at low doses has been shown to have major effects on the reproductive functions in human and domestic animals following prolonged exposure. In this review, we present an overview of congenital/chromosomal factors that are responsible for the DSDs and link them and the lack of proper embryonic development to environmental factors that are becoming a major global concern. PMID:22024933

  19. Incidence of chromosomal abnormalities in bovine blastocysts derived from unsorted and sex-sorted spermatozoa.

    PubMed

    Garcia-Herreros, M; Carter, T F; Villagómez, D A F; Macaulay, A D; Rath, D; King, W A; Lonergan, P

    2010-01-01

    The aim of the present study was to examine the incidence of chromosomal abnormalities in bovine blastocysts produced by IVF with unsorted, X-sorted or Y-sorted spermatozoa. In Experiment 1, individual blastocysts were processed to examine the incidence of mixoploidy using fluorescent in situ hybridisation. Overall, 80% (44/55) of blastocysts were mixoploid (10/15, 14/15 and 20/25 for X-sorted, Y-sorted and unsorted spermatozoa, respectively; P > 0.05). However, the prevalence of abnormal XY chromosome complements was relatively low in all groups; on average, only a small fraction of the total nuclei per embryo appeared polyploid (1.64%, 5.62% and 6.0% for X-sorted, Y-sorted and unsorted spermatozoa, respectively). Interestingly, 20% (5/25) of blastocysts derived from unsorted spermatozoa were found to be chimeric (XX/XY). In Experiment 2, chimeric embryos were detected among the blastocysts derived from two of five sires tested. In addition, one chimeric blastocyst was detected among nine in vivo-derived blastocysts obtained following AI. In conclusion, based on the results of the present study, the incidence of chromosomal abnormalities did not different between blastocysts derived from sex-sorted or unsorted spermatozoa. In addition, the occurrence of mixed sex chimeras was not limited to a single sire and was not unique to blastocysts derived from IVF. PMID:20883653

  20. Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman.

    PubMed

    Al-Alawi, Intisar; Goud, Tadakal Mallana; Al-Harasi, Salma; Rajab, Anna

    2016-02-01

    The aim of this study was to evaluate cytogenetic findings in Omani patients who had been referred for suspicion of sex chromosome abnormalities that resulted in different clinical disorders. Furthermore, it sought to examine the frequency of chromosomal anomalies in these patients and to compare the obtained results with those reported elsewhere. Cytogenetic analysis was performed on 1232 cases with variant characteristics of sexual development disorders who had been referred to the cytogenetic department, National Genetic Centre, Ministry of Health, from different hospitals in the Sultanate of Oman between 1999 and 2014. The karyotype results demonstrated chromosomal anomalies in 24.2% of the cases, where 67.5% of abnormalities were identified in referral females, whereas only 32.6% were in referral males. Of all sex chromosome anomalies detected, Turner syndrome was the most frequent (38.2%) followed by Klinefelter syndrome (24.9%) and XY phenotypic females (16%). XXX syndrome and XX phenotypic males represented 6.8% and 3.8% of all sex chromosome anomalies, respectively. Cytogenetic analysis of patients referred with various clinical suspicions of chromosomal abnormalities revealed a high rate of chromosomal anomalies. This is the first broad cytogenetic study reporting combined frequencies of sex chromosome anomalies in sex development disorders in Oman. PMID:26706459

  1. Histopathological pattern of gonads in cases of sex abnormalities in dogs: An attempt of morphological evaluation involving potential for neoplasia.

    PubMed

    Dzimira, Stanislaw; Nizanski, Wojciech; Ochota, Malgorzata; Madej, Janusz A

    2015-10-01

    Disturbances in sex differentiation (DSD - disorder of sexual development) may result from disturbances in sex chromosomes or a disturbed development of gonads, or from genotypic disturbances. The objective of this article is to describe the histological structure of gonads in dogs showing sexual disturbances and a case of a cancer resembling gonadoblastoma in one of the animals. Among the 10 examined dogs with disturbances of sex development only a single case of a gonadoblastoma was observed. In animals with sex disturbances, similarly to humans, there exists a potential tendency for neoplastic lesions in dysgenetic gonads. As a rule, its frequency in population is confined due to the early procedure of castration of non-breeding dogs. In the present study dogs demonstrated phenotypical traits of bitches with developmental anomalies such as hyperplastic clitoris with vestigial os penis (baculum), or abnormalities in the location and structure of the vulva. The material for the study included canine gonads of various breeds, sampled from phenotypical bitches, aged 7 months to 4 years - patients of the Department of Reproduction and Clinic of Farm Animals, Faculty of Veterinary Medicine, University of Environmental and Life Sciences in Wroclaw (Poland) in years 2006-2013. The organs were surgically removed from the abdomen and sent for histopathological examination for the purpose of determining their histological structure. The 10 examined cases of altered gonads included 6 bilateral cases of testes (60%), 2 cases of bilateral ovotestis (20%), one case of co-manifestation of testis and ovotestis (10%), and a single case of a testis and a neoplastically altered gonad (gonadoblastoma) (10%). PMID:26298630

  2. Abnormal Cingulum Bundle Development in Autism: A Probabilistic Tractography Study

    PubMed Central

    Ikuta, Toshikazu; Shafritz, Keith M.; Bregman, Joel; Peters, Bart; Gruner, Patricia; Malhotra, Anil K.; Szeszko, Philip R.

    2014-01-01

    There is now considerable evidence that white matter abnormalities play a role in the neurobiology of autism. Little research has been directed, however, at understanding (a)typical white matter development in autism and how this relates to neurocognitive impairments observed in the disorder. In this study we used probabilistic tractography to identify the cingulum bundle in 21 adolescents and young adults with autism spectrum disorder (ASD), and 21 age- and sex-matched healthy volunteers. We investigated group differences in the relationships between age and fractional anisotropy, a putative measure of white matter integrity, within the cingulum bundle. Moreover, in a preliminary investigation, we examined the relationship between cingulum fractional anisotropy and executive functioning using the Behavior Rating Inventory of Executive Function (BRIEF). The ASD participants demonstrated significantly lower fractional anisotropy within the cingulum bundle compared to the typically developing volunteers. There was a significant group-by-age interaction such that the ASD group did not show the typical age-associated increases in fractional anisotropy observed among healthy individuals. Moreover, lower fractional anisotropy within the cingulum bundle was associated with worse BRIEF behavioral regulation index scores in the ASD group. The current findings implicate a dysregulation in cingulum bundle white matter development occurring in late adolescence and early adulthood in autism spectrum disorder, and suggest that greater disturbances in this trajectory are associated with executive dysfunction in ASD. PMID:24231056

  3. Abnormal cingulum bundle development in autism: a probabilistic tractography study.

    PubMed

    Ikuta, Toshikazu; Shafritz, Keith M; Bregman, Joel; Peters, Bart D; Gruner, Patricia; Malhotra, Anil K; Szeszko, Philip R

    2014-01-30

    There is now considerable evidence that white matter abnormalities play a role in the neurobiology of autism. Little research has been directed, however, at understanding (a) typical white matter development in autism and how this relates to neurocognitive impairments observed in the disorder. In this study we used probabilistic tractography to identify the cingulum bundle in 21 adolescents and young adults with Autism Spectrum Disorder (ASD), and 21 age- and sex-matched healthy volunteers. We investigated group differences in the relationships between age and fractional anisotropy, a putative measure of white matter integrity, within the cingulum bundle. Moreover, in a preliminary investigation, we examined the relationship between cingulum fractional anisotropy and executive functioning using the Behavior Rating Inventory of Executive Function (BRIEF). The ASD participants demonstrated significantly lower fractional anisotropy within the cingulum bundle compared to the typically developing volunteers. There was a significant group-by-age interaction such that the ASD group did not show the typical age-associated increases in fractional anisotropy observed among healthy individuals. Moreover, lower fractional anisotropy within the cingulum bundle was associated with worse BRIEF behavioral regulation index scores in the ASD group. The current findings implicate a dysregulation in cingulum bundle white matter development occurring in late adolescence and early adulthood in ASD, and suggest that greater disturbances in this trajectory are associated with executive dysfunction in ASD. PMID:24231056

  4. Sex hormone replacement in disorders of sex development.

    PubMed

    Birnbaum, Wiebke; Bertelloni, Silvano

    2014-01-01

    People with disorders of sex development (DSD) may have impaired sex steroid production or their gonads removed before, during or after adolescence, thus requiring hormone replacement therapy (HRT) to induce puberty and/or maintain secondary sexual characteristics, to optimize bone health, and to promote physical and social well-being. Oestrogens are usually used for this purpose in persons reared as females (eventually combined with progestins if a uterus is present) and androgens in those reared as males. An alternative therapy for women with ascertained complete androgen insensitivity syndrome could be testosterone, because this is the main sex steroid hormone secreted by their gonads, but this approach remains to be better explored. Few sound evidence-based data are available to guide HRT administration at puberty and in adulthood in individuals with DSD, but recent data and new formulations may give better perspectives for the future. PMID:25247652

  5. Human papillomavirus prevalence, cervical abnormalities and risk factors among female sex workers in Lima, Peru

    PubMed Central

    Brown, B; Blas, M M; Cabral, A; Byraiah, G; Guerra-Giraldez, C; Sarabia-Vega, V; Carcamo, C; Gravitt, P E; Halsey, N A

    2015-01-01

    Summary Female sex workers (FSWs) are at high risk of human papillomavirus (HPV) infection. Questionnaires were administered to 200 FSWs aged 18–26 years in Lima, Peru, to gather risk behaviours, and cervical swab samples were collected for Pap smears and HPV DNA testing as part of a longitudinal study. Participants reported a median of 120 clients in the past month, and 99.2% reported using condoms with clients. The prevalence of any HPV in cervical samples was 66.8%; 34 (17.1%) participants had prevalent HPV 16 or 18, and 92 (46.2%) had one or more oncogenic types. Fifteen women had abnormal Pap smears, 13 of which were HPV DNA positive. Fewer years since first sex was associated with oncogenic HPV prevalence in a model adjusted for previous sexually transmitted infection (STI) status and condom use with partners (prevalence ratio = 0.77, 95% confidence interval [CI] = 0.60–0.97). Our data confirm the high rates of HPV transmission among FSWs in Peru, highlighting the need for early and effective strategies to prevent cervical cancer. PMID:22581946

  6. Genetics Home Reference: 46,XX testicular disorder of sex development

    MedlinePLUS

    ... disorder catalog Conditions > 46,XX testicular disorder of sex development On this page: Description Genetic changes Inheritance ... 2008 What is 46,XX testicular disorder of sex development? 46,XX testicular disorder of sex development ...

  7. Abnormalities occurring during female gametophyte development result in the diversity of abnormal embryo sacs and leads to abnormal fertilization in indica/japonica hybrids in rice.

    PubMed

    Zeng, Yu-Xiang; Hu, Chao-Yue; Lu, Yong-Gen; Li, Jin-Quan; Liu, Xiang-Dong

    2009-01-01

    Embryo sac abortion is one of the major reasons for sterility in indica/japonica hybrids in rice. To clarify the causal mechanism of embryo sac abortion, we studied the female gametophyte development in two indica/japonica hybrids via an eosin B staining procedure for embryo sac scanning using confocal laser scanning microscope. Different types of abnormalities occurred during megasporogenesis and megagametogenesis were demonstrated. The earliest abnormality was observed in the megasporocyte. A lot of the chalazal-most megaspores were degenerated before the mono-nucleate embryo sac stage. Disordered positioning of nucleus and abnormal nucellus tissue were characteristics of the abnormal female gametes from the mono-nucleate to four-nucleate embryo sac stages. The abnormalities that occurred from the early stage of the eight-nucleate embryo sac development to the mature embryo sac stage were characterized by smaller sizes and wrinkled antipodals. Asynchronous nuclear migration, abnormal positioning of nucleus, and degeneration of egg apparatus were also found at the eight-nucleate embryo sac stage. The abnormalities that occurred during female gametophyte development resulted in five major types of abnormal embryo sacs. These abnormal embryo sacs led to abnormal fertilization. Hand pollination using normal pollens on the spikelets during anthesis showed that normal pollens could not exclude the effect of abnormal embryo sac on seed setting. PMID:19166488

  8. Relationship between serum sex hormones and glucose, insulin and lipid abnormalities in men with myocardial infarction.

    PubMed Central

    Phillips, G B

    1977-01-01

    Fifteen patients who had had a myocardial infarction before the age of 43 were compared with thirteen age-matched normal subjects. Twelve of the patients and three of the controls had a delayed glucose and insulin peak in the glucose and insulin areas than normal curves. When the measurements of the four patients with the largest areas under the glucose tolerance curve were separated, significant correlations were observed in the remaining patients and controls. The ratio in serum of the concentrations of estradiol-17beta to testosterone (E/T) correlated with serum glucose area (r equals + 0.69, P is less than 0.001), insulin area (r equals + 0.80, P is less than 0.001), and the ratio of insulin area to glucose area (I/G) (r equals + 0.64, P is less than 0.005) in the glucose tolerance test. Serum cholesterol concentration correlated with E/T, insulin area, and I/G, and serum triglyceride concentration correlated with glucose area, I/G, and serum cholesterol concentration. The hypothesis is presented (i) that in men who have had a myocardial infarction, an abnormality in glucose tolerance and insulin response and elevation in serum cholesterol and triglyceride concentrations are all part of the same defect (glucose-insulin-lipid defect), (ii) that this glucose-insulin-lipid defect when glucose intolerance is present is the "mild diabetes" commonly associated with myocardial infarction but is based on a mechanism different from that of classical diabetes, (iii) that this glucose-insulin-lipid defect is secondary to an elevation in E/T, and (iv) that an alteration in the sex hormone milieu is the major predisposing factor for myocardial infarction. PMID:193114

  9. CYTOGENETIC ABNORMALITY IN MAN—Wider Implications of Theories of Sex Chromatin Origin

    PubMed Central

    Miles, Charles P.

    1962-01-01

    Female nuclei may be identified by means of sex chromatin. In general the number of sex chromatin bodies is one less than the number of X chromosomes. An exception to this rule is a case of sex chromatin-positive XO Turner's syndrome. This case suggests the possibility of sex chromatin-positive XY males, and it may be evidence for chromosomal differentiation. PMID:14473851

  10. Moral Development of Solo Juvenile Sex Offenders

    ERIC Educational Resources Information Center

    Van Vugt, Eveline; Stams, Geert Jan; Dekovic, Maja; Brugman, Daan; Rutten, Esther; Hendriks, Jan

    2008-01-01

    This study compared the moral development of solo juvenile male sex offenders (n = 20) and juvenile male non-offenders (n = 76), aged 13-19 years, from lower socioeconomic and educational backgrounds. The Moral Orientation Measure (MOM) was used to assess punishment- and victim-based moral orientation in sexual and non-sexual situations. Moral…

  11. Classical and molecular cytogenetics of disorders of sex development in domestic animals.

    PubMed

    Villagómez, D A F; Parma, P; Radi, O; Di Meo, G; Pinton, A; Iannuzzi, L; King, W A

    2009-01-01

    The association of abnormal chromosome constitutions and disorders of sex development in domestic animals has been recorded since the beginnings of conventional cytogenetic analysis. Deviated karyotypes consisting of abnormal sex chromosome sets (e.g. aneuploidy) and/or the coexistence of cells with different sex chromosome constitutions (e.g. mosaicism or chimerism) in an individual seem to be the main causes of anomalies of sex determination and sex differentiation. Molecular cytogenetics and genetics have increased our understanding of these pathologies, where human and mouse models have provided a substantial amount of knowledge, leading to the discovery of a number of genes implicated in mammalian sex determination and differentiation. Additionally, other genes, which appeared to be involved in ovary differentiation, have been found by investigations in domestic species such as the goat. In this paper, we present an overview of the biology of mammalian sex development as a scientific background for better understanding the body of knowledge of the clinical cytogenetics of disorders of sex development in domestic animals. An attempt to summarize of what has been described in that particular subject of veterinary medicine for each of the main mammalian domestic species is presented here. PMID:20016161

  12. Abnormal megakaryocyte development and platelet function in Nbeal2?/? mice

    PubMed Central

    Lo, Richard W.; Li, Ling; Pluthero, Fred G.; Christensen, Hilary; Ni, Ran; Vaezzadeh, Nima; Hawkins, Cynthia E.; Weyrich, Andrew S.; Di Paola, Jorge; Landolt-Marticorena, Carolina; Gross, Peter L.

    2013-01-01

    Gray platelet syndrome (GPS) is an inherited bleeding disorder associated with macrothrombocytopenia and ?-granule-deficient platelets. GPS has been linked to loss of function mutations in NEABL2 (neurobeachin-like 2), and we describe here a murine GPS model, the Nbeal2?/? mouse. As in GPS, Nbeal2?/? mice exhibit splenomegaly, macrothrombocytopenia, and a deficiency of platelet ?-granules and their cargo, including von Willebrand factor (VWF), thrombospondin-1, and platelet factor 4. The platelet ?-granule membrane protein P-selectin is expressed at 48% of wild-type levels and externalized upon platelet activation. The presence of P-selectin and normal levels of VPS33B and VPS16B in Nbeal2?/? platelets suggests that NBEAL2 acts independently of VPS33B/VPS16B at a later stage of ?-granule biogenesis. Impaired Nbeal2?/? platelet function was shown by flow cytometry, platelet aggregometry, bleeding assays, and intravital imaging of laser-induced arterial thrombus formation. Microscopic analysis detected marked abnormalities in Nbeal2?/? bone marrow megakaryocytes, which when cultured showed delayed maturation, decreased survival, decreased ploidy, and developmental abnormalities, including abnormal extracellular distribution of VWF. Our results confirm that ?-granule secretion plays a significant role in platelet function, and they also indicate that abnormal ?-granule formation in Nbeal2?/? mice has deleterious effects on megakaryocyte survival, development, and platelet production. PMID:23861251

  13. Genetics Home Reference: 46,XX testicular disorder of sex development

    MedlinePLUS

    ... Recent literature OMIM Genetic disorder catalog Conditions > 46,XX testicular disorder of sex development On this page: ... Glossary definitions Reviewed November 2008 What is 46,XX testicular disorder of sex development? 46,XX testicular ...

  14. Fertility Issues in Disorders of Sex Development.

    PubMed

    Guercio, Gabriela; Costanzo, Mariana; Grinspon, Romina P; Rey, Rodolfo A

    2015-12-01

    Fertility potential should be considered by the multidisciplinary team when addressing gender assignment, surgical management, and patient and family counselling of individuals with disorders of sex development. In 46,XY individuals, defects of gonadal differentiation or androgen or anti-Müllerian hormone synthesis or action result in incomplete or absent masculinization. In severe forms, raised as females, motherhood is possible with oocyte donation if Müllerian ducts have developed. In milder forms, raised as males, azoospermia or oligospermia are frequently found, however paternity has been reported. Most 46,XX patients with normal ovarian organogenesis are raised as females, and fertility might be possible after treatment. PMID:26568498

  15. Hydrocortisone replacement in disorders of sex development.

    PubMed

    Blankenstein, Oliver

    2014-01-01

    Patients with defects in the steroid biosynthesis and resulting disorders of sex development are the largest group among patients with such disorders. Many of these patients suffer from adrenal insufficiency and have to take either glucocorticoids or a combination of glucocorticoid and mineralocorticoid replacement therapy from birth to avoid life-threatening complications. In this chapter, the physiologic situation of cortisol secretion and the different possibilities of hormone replacement therapy are discussed. Further attention is given to stress-dosing of glucocorticoids, especially hydrocortisone. PMID:25247653

  16. Consanguinity and disorders of sex development.

    PubMed

    Bashamboo, Anu; McElreavey, Ken

    2014-01-01

    Disorders of sex development (DSD) are defined as 'congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical' [Lee et al., Pediatrics 2006;118:e488-e500]. Studies conducted in Western countries, with low rates of consanguinity, show that truly ambiguous genitalia have an estimated incidence of 1:5,000 births. There are indications that the prevalence of DSD is higher in endogamous communities. The incidence of ambiguous genitalia in Saudi Arabia has been estimated at 1:2,500 live births; whilst in Egypt, it has been estimated at 1:3,000 live births. This may be due in part to an increase in disorders of androgen synthesis associated with 46,XX DSD. There is clearly a need for further studies to address the frequency of DSD in communities with high levels of consanguinity. This will be challenging, as an accurate diagnosis is difficult and expensive even in specialized centres. In developing countries with high levels of consanguinity, these limitations can be compounded by cultural, social and religious factors. Overall there is an indication that consanguinity may lead to an increase in incidences of both 46,XY and 46,XX DSD, and a co-ordinated study of populations with higher incidences of consanguinity/endogamy is needed to resolve this. PMID:25060274

  17. Risking a Relation: Sex Education and Adolescent Development

    ERIC Educational Resources Information Center

    Gilbert, Jen

    2007-01-01

    This paper considers how issues of adolescent development might be brought into conversation with dilemmas in sex education. Here, sex education is larger than information, affirmation or prohibition. In its address to the most intimate aspects of life--love, loss, vulnerability, power, friendship, aggression--sex education is necessarily…

  18. CHRONIC PERCHLORATE EXPOSURE CAUSES MORPHOLOGICAL ABNORMALITIES IN DEVELOPING STICKLEBACK

    PubMed Central

    Bernhardt, Richard R.; Von Hippel, Frank A.; O’Hara, Todd M.

    2011-01-01

    Few studies have examined the effects of chronic perchlorate exposure during growth and development, and fewer still have analyzed the effects of perchlorate over multiple generations. We describe morphological and developmental characteristics for threespine stickleback (Gasterosteus aculeatus) that were spawned and raised to sexual maturity in perchlorate-treated water (G1,2003) and for their offspring (G2,2004) that were not directly treated with perchlorate. The G1,2003 displayed a variety of abnormalities, including impaired formation of calcified traits, slower growth rates, aberrant sexual development, poor survivorship, and reduced pigmentation that allowed internal organs to be visible. Yet these conditions were absent when the offspring of contaminated fish (G2,2004) were raised in untreated water, suggesting a lack of transgenerational effects and that surviving populations may be able to recover following remediation of perchlorate-contaminated sites PMID:21465539

  19. Inhibition of polyisoprenoid and glycoprotein biosynthesis causes abnormal embryonic development.

    PubMed Central

    Carson, D D; Lennarz, W J

    1979-01-01

    Compactin, a potent inhibitor of polyisoprenoid biosynthesis, induces abnormal gastrulation during sea urchin development at concentrations that have no effect on earlier embryonic development or on macromolecular synthesis. Three lines of evidence suggest that the developmental lesion caused by compactin results from inhibition of dolichol biosynthesis and a concomitant inhibition in the biosynthesis of the oligosaccharide chains of N-linked glycoproteins. (i) Embryos cultured in the presence of compactin gastrulate normally when supplemented with dolichol alone, whereas supplementation with cholesterol or coenzyme Q or both does not prevent the compactin-induced developmental lesion. (ii) Exogenously supplemented [3H]dolichol is incorporated into a compound with the chromatographic properties of oligosaccharide-pyrophosphoryldolichol. (iii) Embryos cultured in the presence of compactin exhibit a decreased capacity to synthesize mannose-labeled glycolipids and N-linked glycoproteins. This decrease in synthesis is abolished if the embryos are cultured in the presence of dolichol along with compactin. Images PMID:293674

  20. Differential Mental Development of 18 Month-Old Same-Sexed and Opposite-Sexed Twins.

    ERIC Educational Resources Information Center

    Black, Kathryn Norcross; Campbell, Kathleen M.

    This paper describes a study which examined the performance of 48 pairs of 18-month-old twins on the Mental Development Scale of the Bayley Scales of Infant Development to determine whether score differences would be found for the three subgroups of identical, fraternal same-sexed, and fraternal opposite-sexed twins. Of the 96 subjects, 46 (23…

  1. Effects of tamoxifen on the sex determination gene and the activation of sex reversal in the developing gonad of mice.

    PubMed

    Yu, Mingxi; Wang, Jingyun; Liu, Wei; Qin, Junwen; Zhou, Quan; Wang, Yongan; Huang, Huihui; Chen, Wenli; Ma, Chao

    2014-07-01

    Tamoxifen, as well as most endocrine-disrupting chemicals, affects the reproductive system and sexual development, but little is known about its disruption of the molecular pathways regulating mammalian sex determination. In fetal mice, the expression levels and pattern of key genes involved in controlling sexually dimorphic balance were analyzed both in vivo and in vitro by using whole-mount in situ hybridization and quantitative-PCR. Developmental tamoxifen exposure induced abnormal up-regulation of the testis differentiation marker Pdfgra in Leydig cells and of Sox9 and Fgf9 in Sertoli cells in XX gonad. Immunohistochemistry analysis confirmed the over-expression of SOX9 protein. Accordingly, the ovary development marker Foxl2 was depressed at both the mRNA and protein levels. The increase in testosterone and the reduction in 17?-estradiol and progesterone were observed by using the in vitro assay with organotypic cultures. Taken together, results indicated that tamoxifen induced the ectopic expression of well-established sex-specific genes during the critical developmental period, thus resulting in abnormal testicular development in the XX gonad of mammals. This study facilitates a better understanding of the molecular mechanisms of antiestrogens and possibly of compounds that interrupt estrogen signaling by other modes of action, and the association with the pathogenesis of human sexual developmental disorders. PMID:24769059

  2. Meiotic abnormalities

    SciTech Connect

    1993-12-31

    Chapter 19, describes meiotic abnormalities. These include nondisjunction of autosomes and sex chromosomes, genetic and environmental causes of nondisjunction, misdivision of the centromere, chromosomally abnormal human sperm, male infertility, parental age, and origin of diploid gametes. 57 refs., 2 figs., 1 tab.

  3. Normal and abnormal spine and thoracic cage development.

    PubMed

    Canavese, Federico; Dimeglio, Alain

    2013-01-01

    Development of the spine and thoracic cage consists of a complex series of events involving multiple metabolic processes, genes and signaling pathways. During growth, complex phenomena occur in rapid succession. This succession of events, this establishment of elements, is programmed according to a hierarchy. These events are well synchronized to maintain harmonious limb, spine and thoracic cage relationships, as growth in the various body segments does not occur simultaneously at the same magnitude or rate. In most severe cases of untreated progressive early-onset spinal deformities, respiratory insufficiency and pulmonary and cardiac hypertension (cor pulmonale), which characterize thoracic insufficiency syndrome (TIS), can develop, sometimes leading to death. TIS is the inability of the thorax to ensure normal breathing. This clinical condition can be linked to costo-vertebral malformations (e.g., fused ribs, hemivertebrae, congenital bars), neuromuscular diseases (e.g., expiratory congenital hypotonia), Jeune or Jarcho-Levin syndromes or to 50% to 75% fusion of the thoracic spine before seven years of age. Complex spinal deformities alter normal growth plate development, and vertebral bodies become progressively distorted, perpetuating the disorder. Therefore, many scoliotic deformities can become growth plate disorders over time. This review aims to provide a comprehensive review of how spinal deformities can affect normal spine and thoracic cage growth. Previous conceptualizations are integrated with more recent scientific data to provide a better understanding of both normal and abnormal spine and thoracic cage growth. PMID:24147251

  4. Quality of life of patients with 46,XX and 46,XY disorders of sex development.

    PubMed

    Amaral, Rita Cassia; Inacio, Marlene; Brito, Vinicius N; Bachega, Tania A S S; Domenice, Sorahia; Arnhold, Ivo J P; Madureira, Guiomar; Gomes, Larissa; Costa, Elaine M F; Mendonca, Berenice B

    2015-02-01

    Disorders of sex development (DSD) result from abnormalities in the complex process of sex determination and differentiation. An important consideration to guide the assignment of social sex in newborns with ambiguous genitalia is the quality of life (QoL) of these patients in adulthood. The rarity of most DSD conditions makes it difficult to conduct a long-term follow-up of affected patients through adulthood. This review of papers on the QoL of DSD patients evaluated in developing and developed countries by qualitative and quantitative instruments revealed a large spectrum of QoL, ranging from very poor to similar to, or even better than, the normal population. A more adequate QoL was found in patients from tertiary centres, indicating that the medical care of DSD patients should be multidisciplinary and carried out by specialized teams. PMID:25040878

  5. Normal and abnormal development of an identified leech motor neuron.

    PubMed

    Kuwada, J Y

    1984-02-01

    In embryonic and mature leeches, the identified L motor neuron, which innervates the longitudinal muscles of the contralateral half body segment, can be identified by the location and relatively large size of its cell body. Here the morphological and physiological development of the L motor neuron has been investigated by intracellular recording and dye-filling techniques in normal and abnormal embryonic leeches. Normally the L motor neuron growth cone projects from the cell body at about the same time as from many other neurons located in the lateral part of the ganglion, including the P mechanosensory neurons. The L motor axon, like many other leech axons, projects directly into the appropriate pathway. The L motor neuron does not initially extend an excessive number of axons followed by elimination of the inappropriate ones. Its growth cone is tapered and relatively free of filopodia and grows out of the ganglion in the contralateral posterior nerve behind the growth cone of the primary peripheral axon of the dorsal P mechanosensory cell, which is one of the earliest axons in the posterior root. Occasionally the bilateral halves of the germinal plate fail to fuse resulting in an embryo with separated but intact half ganglia, body wall, and skin. In such embryos the L motor neuron axons cannot grow out of the contralateral posterior nerve since it is not available. Instead they grow out a variety of ipsilateral nerves and/or connective tracts. The P mechanosensory cells, which normally grow out of the ganglion in specific ipsilateral nerves, extend their axons along their normal pathways. In these abnormal embryos the L motor neurons did not preferentially grow into the ipsilateral posterior nerve, normally the pathway taken by the bilateral homologue and the nerve most similar to the L motor neuron's normal pathway. The failure of these L neurons to either consistently choose or avoid the ipsilateral posterior root suggests that the bilateral homologues ignore one another's pathfinding cues or that such cues are missing or changed in these embryos. The axons of the P neurons, however, appear to require no cues or interactions with contralateral structures or cells for normal development. PMID:6716040

  6. Chromosome abnormalities and their relationship to morphology and development of human embryos.

    PubMed

    Munné, Santiago

    2006-02-01

    This review covers the relationship between chromosome abnormalities, morphological abnormalities and embryonic development. The baseline of chromosome abnormalities in human embryos produced by assisted reproduction is higher than 50%, regardless of maternal age. While aneuploidy increases with maternal age, abnormalities arising post-meiotically, such as mosaicism, chaoticism, polyploidy and haploidy, have similar incidence in all age groups (about 33%). Post-meiotic abnormalities do increase with dysmorphism. The most common dysmorphisms found in cleavage-stage embryos are multinucleation, fragmentation and uneven cells, among others. All dysmorphisms are associated with an increase in post-meiotic chromosome abnormalities and a decreased implantation potential. Similarly, embryos developing slowly or with arrested development have higher incidence of post-meiotic abnormalities than normally developing ones. Chromosome studies in blastocysts indicate that mosaicism is the most common abnormality but that the load of abnormal cells decreases with increasing blastocyst quality. Regardless of blastocyst quality, more than 40% of mosaics are still chromosomally abnormal and will not implant or will spontaneously abort. Because aneuploidy is not related to cleavage stage dysmorphism and trisomies can reach blastocyst stage and beyond, morphological analysis is not enough to select against chromosome abnormalities, and thus preimplantation genetic diagnosis should be recommended in patients 35 and older. PMID:16478592

  7. Abnormal Canine Bone Development Associated with Hypergravity Exposure

    NASA Technical Reports Server (NTRS)

    Morgan, J. P.; Fisher, G. L.; McNeill, K. L.; Oyama, J.

    1979-01-01

    Chronic centrifugation of 85- to 92-day-old Beagles at 2.0 x g and 2.6 x g for 26 weeks during the time of active skeletal growth caused skeletal abnormalities in the radius and the ulna of ten of 11 dogs. The pattern of change mimicked that found in naturally occurring and experimentally induced premature distal ulnar physeal closure or delayed growth at this physis. Minimal changes in bone density were detected by sensitive photon absorptiometric techniques. Skeletal abnormalities also were found in five of the six cage-control dogs, although the run-control dogs were radiographically normal.

  8. Sex as Development: Curriculum, Pedagogy and Critical Inquiry

    ERIC Educational Resources Information Center

    Janssen, Diederik Floris

    2009-01-01

    The author of this article proposes a critical approach to sexuality as a pedagogical agenda. The author offers a brief appraisal of sexology as a developmental science, and of the academic notion of developing sex. First, the author locates sexuality education in terms of its conventional curricular organization, arguing that that sex…

  9. Development of Abnormality Detection System for Bathers using Ultrasonic Sensors

    NASA Astrophysics Data System (ADS)

    Ohnishi, Yosuke; Abe, Takehiko; Nambo, Hidetaka; Kimura, Haruhiko; Ogoshi, Yasuhiro

    This paper proposes an abnormality detection system for bather sitting in bathtub. Increasing number of in-bathtub drowning accidents in Japan draws attention. Behind this large number of bathing accidents, Japan's unique social and cultural background come surface. For majority of people in Japan, bathing serves purpose in deep warming up of body, relax and enjoyable time. Therefore it is the custom for the Japanese to soak in bathtub. However overexposure to hot water may cause dizziness or fainting, which is possible to cause in-bathtub drowning. For drowning prevention, the system detects bather's abnormal state using an ultrasonic sensor array. The array, which has many ultrasonic sensors, is installed on the ceiling of bathroom above bathtub. The abnormality detection system uses the following two methods: posture detection and behavior detection. The function of posture detection is to estimate the risk of drowning by monitoring bather's posture. Meanwhile, the function of behavior detection is to estimate the risk of drowning by monitoring bather's behavior. By using these methods, the system detects bathers' different state from normal. As a result of experiment with a subject in the bathtub, the system was possible to detect abnormal state using subject's posture and behavior. Therefore the system is useful for monitoring bather to prevent drowning in bathtub.

  10. Sex-Affirmative Career Development Interventions in Higher Education.

    ERIC Educational Resources Information Center

    McLouglin, Mary Ellen; And Others

    1978-01-01

    The article describes two systematic college career development programs into which sex-free materials could be incorporated, two intervention strategies on career socialization issues, and three additional resources specifically focusing on women's issues in career education. (MF)

  11. Offense related characteristics and psychosexual development of juvenile sex offenders

    PubMed Central

    Hart-Kerkhoffs, Lisette 't A; Doreleijers, Theo AH; Jansen, Lucres MC; van Wijk, Anton PH; Bullens, Ruud AR

    2009-01-01

    Objective: This article reports on offense related characteristics and the psychosexual development in subgroups of juvenile sex offenders as measured by the Global Assessment Instrument for Juvenile Sex Offenders (GAIJSO). The predictive validity of these characteristics for persistent (sexual) offensive behavior in subgroups of juvenile sex offenders was investigated. Methods: One hundred seventy four sex offenders (mean age 14.9 SD 1.4) referred by the police to the Dutch Child Protection Board were examined. Offense related characteristics were assessed by means of the GAIJSO and the BARO (a global assessment tool for juvenile delinquents), and criminal careers of the subjects were ascertained from official judicial records. Results: Serious need for comprehensive diagnostics were found on the domains sexual offense and psychosexual development in juvenile sex offenders, especially in the group of child molesters. These youngsters displayed more internalizing and (psychosexual) developmental problems and their sexual offense was more alarming as compared to the other juvenile sex offender subgroups. Although one third of the juveniles had already committed one or more sex offenses prior to the index offense, at follow up (mean follow up period: 36 months SD 18 months) almost no sexual recidivism was found (0.6% of the entire sample). However, a substantial proportion of the entire sample of juvenile sex offenders showed non-sexual (55.6%) and violent recidivism (32.1%). Several predictors for a history of multiple sex offending and non-sexual recidivism were identified. Conclusion: This study revealed numerous problems in juvenile sex offenders. Assessment using the GAIJSO is helpful in order to identify indicators for extensive diagnostic assessment. In order to investigate the predictive validity for sexual reoffending a longer follow up period is necessary. PMID:19594889

  12. It's all about sex: gender, lung development and lung disease.

    PubMed

    Carey, Michelle A; Card, Jeffrey W; Voltz, James W; Arbes, Samuel J; Germolec, Dori R; Korach, Kenneth S; Zeldin, Darryl C

    2007-10-01

    Accumulating evidence suggests that gender affects the incidence, susceptibility and severity of several lung diseases. Gender also influences lung development and physiology. Data from both human and animal studies indicate that sex hormones might contribute to disease pathogenesis or serve as protective factors, depending on the disease involved. In this review, the influence of gender and sex hormones on lung development and pathology will be discussed, with specific emphasis on pulmonary fibrosis, asthma and cancer. PMID:17764971

  13. Human papillomavirus (HPV) prevalence and type distribution, and HPV-associated cytological abnormalities in anal specimens from men infected with HIV who have sex with men.

    PubMed

    Damay, Audrey; Fabre, Jaqueline; Costes, Valérie; Didelot, Jean-Michel; Didelot, Marie-Noëlle; Boulle, Nathalie; Segondy, Michel

    2010-04-01

    Human papillomavirus (HPV) detection and typing using the PapilloCheck test and cytological examination were carried out in anal samples collected from 67 men seropositive for human immunodeficiency virus (HIV) who have sex with men. Fifty (74.6%) patients had anal HPV infection, 46 (68.7%) had high-risk (HR) HPV infection, and 38 (56.7%) had multiple infection involving 2-9 (median, 3) HPV types. The HPV types identified most frequently were HPV 44/55 (19.4%), HPV 53 (19.4%), HPV 16 (16.4%), HPV 39 (16.4%), and HPV 42 (14.9%). Thirty-two of the 66 interpretable smears (48.5%) revealed cytological abnormalities: 9 (13.4%) atypical cells of undetermined significance, 20 (30.3%) low-grade intraepithelial lesions, and 3 (4.5%) high-grade intraepithelial lesions. Cytological abnormalities were associated significantly with HPV detection (P < 0.001), multiple HPV infection (P < 0.001), and increased number of HPV types (P < 0.001). The HPV types associated most frequently with cytological abnormalities were HPV 39 (28.1%), HPV 42 (28.1%), HPV 53 (28.1%), HPV 16 (25.0%), HPV 44/55 (25.0%), and HPV 59 (21.9%). HPV DNA detection as well as cytological abnormalities were associated neither with HIV RNA detection in plasma nor with CD4+ T-cell count. Differences in age or in time since HIV acquisition were not observed in patients with or without cytological abnormalities. The present study confirms the high prevalence of anal HR-HPV infection and cytological abnormalities in men infected with HIV who have sex with men. HPV testing and/or cytological analysis may be helpful in selecting the patients to be referred to proctological examination. PMID:20166175

  14. The development of brain sex differences: a multisignaling process.

    PubMed

    Segovia, S; Guillamón, A; del Cerro, M C; Ortega, E; Pérez-Laso, C; Rodriguez-Zafra, M; Beyer, C

    1999-11-01

    In order to account for the development of sex differences in the brain, we took, as an integrative model, the vomeronasal pathway, which is involved in the control of reproductive physiology and behavior. The fact that brain sex differences take place in complex neural networks will help to develop a motivational theory of sex differences in reproductive behaviors. We also address the classic genomic actions in which three agents (the hormone, the intracellular receptor, and the transcription function) play an important role in brain differentiation, but we also point out refinements that such a theory requires if we want to account of the existence of two morphological patterns of sex differences in the brain, one in which males show greater morphological measures (neuron numbers and/or volume) than females and the opposite. Moreover, we also consider very important processes closely related to neuronal afferent input and membrane excitability for the developing of sex differences. Neurotransmission associated to metabotropic and ionotropic receptors, neurotrophic factors, neuroactive steroids that alter membrane excitability, cross-talk (and/or by-pass) phenomena, and second messenger pathways appear to be involved in the development of brain sex differences. The sexual differentiation of the brain and reproductive behavior is regarded as a cellular multisignaling process. PMID:10553691

  15. Sex determination of duck embryos: observations on syrinx development

    USGS Publications Warehouse

    Wilson, Robert E.; Sonsthagen, Sarah A.; Franson, J. Christian

    2013-01-01

    Ducks exhibit sexual dimorphism in vocal anatomy. Asymmetrical ossification of the syrinx (bulla syringealis) is discernable at about 10 days of age in male Pekin duck (Anas platyrhynchos domestica) embryos, but information is lacking on the early development of the bulla in wild ducks. To evaluate the reliability of this characteristic for sexing developing embryos, we examined the syrinx of dead embryos and compared results with molecular sexing techniques in high arctic nesting Common Eiders (Somateria mollissima). Embryos 8 days or older were accurately (100%) sexed based on the presence/absence of a bulla, 2 days earlier than Pekin duck. The use of the tracheal bulla can be a valuable technique when sex identification of embryos or young ducklings is required.

  16. Expression profile of doublesex/male abnormal-3-related transcription factor-1 during gonadal sex change in the protogynous wrasse, Halichoeres trimaculatus.

    PubMed

    Nozu, Ryo; Horiguchi, Ryo; Kobayashi, Yasuhisa; Nakamura, Masaru

    2015-11-01

    Sex change in fish involves a dramatic transformation of gonadal tissue and a switch in gametogenesis. Doublesex/male abnormal-3-related transcription factor-1 (DMRT1), encoded by the DMRT1 gene, is involved in testicular differentiation in a wide range of vertebrates as well as in sexual differentiation and gonadal sex change. In the present study, we investigated changes in the expression of dmrt1 during artificial gonadal sex change in the three-spot wrasse, Halichoeres trimaculatus, by real-time quantitative PCR and immunolocalization, using an anti-wrasse-Dmrt1 antibody that we prepared. We found that dmrt1 expression was predominantly observed in the testes, and that Dmrt1 was expressed in Sertoli cells of testes and a few granulosa cells surrounding vitellogenic oocytes of the ovary. Additionally, the upregulation of dmrt1 expression was consistent with an increase in spermatogenic cyst quantity rather than proliferation of presumptive spermatogonia, suggesting that dmrt1 is involved in the progression of spermatogenesis during sex change. Changes in the localization of Dmrt1 during gonadal sex change further implied that Sertoli cells originate from somatic cells adjacent to gonial germ cells during testicular formation in the three-spot wrasse. Mol. Reprod. Dev. 82: 859-866, 2015. © 2015 Wiley Periodicals, Inc. PMID:26202688

  17. Sex, attachment, and the development of reproductive strategies.

    PubMed

    Del Giudice, Marco

    2009-02-01

    This target article presents an integrated evolutionary model of the development of attachment and human reproductive strategies. It is argued that sex differences in attachment emerge in middle childhood, have adaptive significance in both children and adults, and are part of sex-specific life history strategies. Early psychosocial stress and insecure attachment act as cues of environmental risk, and tend to switch development towards reproductive strategies favoring current reproduction and higher mating effort. However, due to sex differences in life history trade-offs between mating and parenting, insecure males tend to adopt avoidant strategies, whereas insecure females tend to adopt anxious/ambivalent strategies, which maximize investment from kin and mates. Females are expected to shift to avoidant patterns when environmental risk is more severe. Avoidant and ambivalent attachment patterns also have different adaptive values for boys and girls, in the context of same-sex competition in the peer group: in particular, the competitive and aggressive traits related to avoidant attachment can be favored as a status-seeking strategy for males. Finally, adrenarche is proposed as the endocrine mechanism underlying the reorganization of attachment in middle childhood, and the implications for the relationship between attachment and sexual development are explored. Sex differences in the development of attachment can be fruitfully integrated within the broader framework of adaptive plasticity in life history strategies, thus contributing to a coherent evolutionary theory of human development. PMID:19210806

  18. Altered structure of cortical sulci in gilles de la Tourette syndrome: Further support for abnormal brain development.

    PubMed

    Muellner, Julia; Delmaire, Christine; Valabrégue, Romain; Schüpbach, Michael; Mangin, Jean-François; Vidailhet, Marie; Lehéricy, Stéphane; Hartmann, Andreas; Worbe, Yulia

    2015-04-15

    Gilles de la Tourette syndrome is a neurodevelopmental disorder characterized by the presence of motor and vocal tics. We hypothesized that patients with this syndrome would present an aberrant pattern of cortical formation, which could potentially reflect global alterations of brain development. Using 3 Tesla structural neuroimaging, we compared sulcal depth, opening, and length and thickness of sulcal gray matter in 52 adult patients and 52 matched controls. Cortical sulci were automatically reconstructed and identified over the whole brain, using BrainVisa software. We focused on frontal, parietal, and temporal cortical regions, in which abnormal structure and functional activity were identified in previous neuroimaging studies. Partial correlation analysis with age, sex, and treatment as covariables of noninterest was performed amongst relevant clinical and neuroimaging variables in patients. Patients with Gilles de la Tourette syndrome showed lower depth and reduced thickness of gray matter in the pre- and post-central as well as superior, inferior, and internal frontal sulci. In patients with associated obsessive-compulsive disorder, additional structural changes were found in temporal, insular, and olfactory sulci. Crucially, severity of tics and of obsessive-compulsive disorder measured by Yale Global Tic severity scale and Yale-Brown Obsessive-Compulsive scale, respectively, correlated with structural sulcal changes in sensorimotor, temporal, dorsolateral prefrontal, and middle cingulate cortical areas. Patients with Gilles de la Tourette syndrome displayed an abnormal structural pattern of cortical sulci, which correlated with severity of clinical symptoms. Our results provide further evidence of abnormal brain development in GTS. PMID:25820811

  19. Abnormal ventricular development in preterm neonates with visually normal MRIs

    NASA Astrophysics Data System (ADS)

    Shi, Jie; Wang, Yalin; Lao, Yi; Ceschin, Rafael; Mi, Liang; Nelson, Marvin D.; Panigrahy, Ashok; Leporé, Natasha

    2015-12-01

    Children born preterm are at risk for a wide range of neurocognitive and neurobehavioral disorders. Some of these may stem from early brain abnormalities at the neonatal age. Hence, a precise characterization of neonatal neuroanatomy may help inform treatment strategies. In particular, the ventricles are often enlarged in neurocognitive disorders, due to atrophy of surrounding tissues. Here we present a new pipeline for the detection of morphological and relative pose differences in the ventricles of premature neonates compared to controls. To this end, we use a new hyperbolic Ricci flow based mapping of the ventricular surfaces of each subjects to the Poincaré disk. Resulting surfaces are then registered to a template, and a between group comparison is performed using multivariate tensor-based morphometry. We also statistically compare the relative pose of the ventricles within the brain between the two groups, by performing a Procrustes alignment between each subject's ventricles and an average shape. For both types of analyses, differences were found in the left ventricles between the two groups.

  20. Development and Validation of Sex-Balanced Interest Inventory Scales.

    ERIC Educational Resources Information Center

    Hanson, G.R.; And Others

    This report describes the development and validation of the Unisex ACT Interest Inventory (UNIACT). In contrast to other interest inventories in common use, the UNIACT contains scales on which males and females receive similar scores. In the development of the UNIACT, more than 200 potentially sex-balanced items were administered to 10,211 people,…

  1. Isolation and characterization of sex chromosome rearrangements generating male muscle dystrophy and female abnormal oogenesis in the silkworm, Bombyx mori.

    PubMed

    Fujii, T; Yokoyama, T; Ninagi, O; Kakehashi, K; Obara, Y; Nenoi, M; Ishikawa, T; Mita, K; Shimada, T; Abe, H

    2007-07-01

    In deletion-mapping of W-specific RAPD (W-RAPD) markers and putative female determinant gene (Fem), we used X-ray irradiation to break the translocation-carrying W chromosome (W( Ze )). We succeeded in obtaining a fragment of the W( Ze ) chromosome designated as Ze (W), having 3 of 12 W-RAPD markers (W-Bonsai, W-Yukemuri-S, W-Yukemuri-L). Inheritance of the Ze (W) fragment by males indicates that it does not include the Fem gene. On the basis of these results, we determined the relative positions of W-Yukemuri-S and W-Yukemuri-L, and we narrowed down the region where Fem gene is located. In addition to the Ze (W) fragment, the Z chromosome was also broken into a large fragment (Z(1)) having the +( sch ) (1-21.5) and a small fragment (Z(2)) having the +( od ) (1-49.6). Moreover, a new chromosomal fragment (Ze (W)Z(2)) was generated by a fusion event between the Ze (W) and the Z(2) fragments. We analyzed the genetic behavior of the Z(1) fragment and the Ze (W)Z(2) fragment during male (Z/Z(1) Ze (W)Z(2)) and female (Z(1) Ze (W)Z(2)/W) meiosis using phenotypic markers. It was observed that the Z(1) fragment and the Z or the W chromosomes separate without fail. On the other hand, non-disjunction between the Ze (W)Z(2) fragment and the Z chromosome and also between the Ze (W)Z(2) fragment and the W chromosome occurred. Furthermore, the females (2A: Z/Ze (W)Z(2)/W) and males (2A: Z/Z(1)) resulting from non-disjunction between the Ze (W)Z(2) fragment and the W chromosome had phenotypic defects: namely, females exhibited abnormal oogenesis and males were flapless due to abnormal indirect flight muscle structure. These results suggest that Z(2) region of the Z chromosome contains dose-sensitive gene(s), which are involved in oogenesis and indirect flight muscle development. PMID:17031495

  2. Contemporary issues in the management of abnormal placentation during pregnancy in developing nations: An Indian perspective

    PubMed Central

    Bajwa, Sukhwinder Kaur; Singh, Anita; Bajwa, Sukhminder Jit Singh

    2013-01-01

    The gap between the developed and developing nations with regards to maternal mortality and morbidity may have narrowed but still a lot of dedicated work is required to bridge these differences. Obstetrical haemorrhage is the leading cause of maternal deaths in these developing nations especially in India. The most common causes of this fatal haemorrhage are the placental abnormalities which rarely get detected before delivery. Numerous factors have been incremental in the causation of this abnormal placental implantation with resultant complications. The present article is an attempt to review possible predictors of abnormal placental implantation. Also, a genuine attempt has been made to enumerate possible measures to identify the predictors of abnormal placentation during early pregnancy and their suitable prevention and management. PMID:24404455

  3. Contemporary issues in the management of abnormal placentation during pregnancy in developing nations: An Indian perspective.

    PubMed

    Bajwa, Sukhwinder Kaur; Singh, Anita; Bajwa, Sukhminder Jit Singh

    2013-07-01

    The gap between the developed and developing nations with regards to maternal mortality and morbidity may have narrowed but still a lot of dedicated work is required to bridge these differences. Obstetrical haemorrhage is the leading cause of maternal deaths in these developing nations especially in India. The most common causes of this fatal haemorrhage are the placental abnormalities which rarely get detected before delivery. Numerous factors have been incremental in the causation of this abnormal placental implantation with resultant complications. The present article is an attempt to review possible predictors of abnormal placental implantation. Also, a genuine attempt has been made to enumerate possible measures to identify the predictors of abnormal placentation during early pregnancy and their suitable prevention and management. PMID:24404455

  4. Same-Sex Attraction and Successful Adolescent Development

    ERIC Educational Resources Information Center

    Busseri, Michael A.; Willoughby, Teena; Chalmers, Heather; Bogaert, Anthony R.

    2006-01-01

    This study investigated the relation of adolescent same-sex attraction to "successful development" (Baltes, P. B., "Am. Psychol." 32:366-380, 1997). Based on a survey of high-school adolescents, four groups were defined according to the nature of self-reported sexual attraction: exclusively heterosexual (EHA; n=3594); mostly heterosexual (MHA;…

  5. Assessing Sex Role Development of Kindergarten Mexican-American Boys.

    ERIC Educational Resources Information Center

    Sultemeier, Barbara

    To assess sex role development in Mexican-American males, about 40 kindergarten boys from low middle to very low socioeconomic backgrounds were divided into 2 statistical test groups according to whether their fathers were or were not resident in the home. Data were obtained from toy preference scorings, which followed Biller's 1968 measure;…

  6. Effects of oil pollution on the development of sex cells in sea urchins

    NASA Astrophysics Data System (ADS)

    Vashchenko, M. A.

    1980-03-01

    The sea urchin Strongylocentrotus nudus is highly sensitive to oil pollution. Experiments were performed in winter, spring and summer over periods of 15 to 45 days. Experimental urchins were kept in water with hydrocarbon concentrations of 10 to 30 mg l-1, and control urchins in pure sea water. Thermal stimulation by Evdokimov's method was applied to obtain mature sexual products during winter and spring tests. Summer investigations were conducted at temperatures of 17 to 18 °C. The gonads were studied histologically and morphometrically, and the sexual cells obtained were analyzed at the embryological level. No histological and morphometrical differences were recorded between sexual cells of controls and experimentals. However, marked hydrocarbon effects were observed in the embryonic development of artificially fertilized cells from experimental urchins. Control embryos developed normally. Embryogenesis of artificially fertilized gametes from control females and experimental males, and vice versa, was found to be distinctly abnormal. Many abnormalities were identified at the first cleavage stage, as well as in blastula, gastrula and pluteus. Fertilization of experimental eggs with experimental sperm resulted in serious disturbances of embryos, followed by the development of non-viable larvae. On the whole, embryogenesis of sexual cells from experimental urchins was characterized by prominent delay, asynchronism and presence of abnormal non-viable larvae. Consequently, long-term effects of sublethal hydrocarbon concentrations resulted in the formation of defective sex cells and high larval mortality.

  7. [Heritability and environment in normal and abnormal development].

    PubMed

    Lejarraga, Horacio

    2010-12-01

    The environmental influence on human development can be studied by assessing similarities and discrepancies in developmental traits between biological and adopted siblings and twins, reared together and reared apart. Approximately 50% of total variance of general cognitive ability in a given population can be explained by the environment. This influence gradually decreases with age, from infancy to adulthood. Two types of environments can be distinguished: shared and non shared. The former one, acts predominantly in childhood, and the non shared environment becomes more important in adulthood. Paradoxically, quantitative genetics can make a significant contribution to knowledge on the influence of environment on human development. PMID:21132250

  8. Sex-Specific Placental Responses in Fetal Development.

    PubMed

    Rosenfeld, Cheryl S

    2015-10-01

    The placenta is an ephemeral but critical organ for the survival of all eutherian mammals and marsupials. It is the primary messenger system between the mother and fetus, where communicational signals, nutrients, waste, gases, and extrinsic factors are exchanged. Although the placenta may buffer the fetus from various environmental insults, placental dysfunction might also contribute to detrimental developmental origins of adult health and disease effects. The placenta of one sex over the other might possess greater ability to respond and buffer against environmental insults. Given the potential role of the placenta in effecting the lifetime health of the offspring, it is not surprising that there has been a resurging interest in this organ, including the Human Placental Project launched by the National Institutes of Child Health and Human Development. In this review, we will compare embryological development of the laboratory mouse and human chorioallantoic placentae. Next, evidence that various species, including humans, exhibit normal sex-dependent structural and functional placental differences will be examined followed by how in utero environmental changes (nutritional state, stress, and exposure to environmental chemicals) might interact with fetal sex to affect this organ. Recent data also suggest that paternal state impacts placental function in a sex-dependent manner. The research to date linking placental maladaptive responses and later developmental origins of adult health and disease effects will be explored. Finally, we will focus on how sex chromosomes and epimutations may contribute to sex-dependent differences in placental function, the unanswered questions, and future directions that warrant further consideration. PMID:26241064

  9. Sex-Specific Placental Responses in Fetal Development

    PubMed Central

    2015-01-01

    The placenta is an ephemeral but critical organ for the survival of all eutherian mammals and marsupials. It is the primary messenger system between the mother and fetus, where communicational signals, nutrients, waste, gases, and extrinsic factors are exchanged. Although the placenta may buffer the fetus from various environmental insults, placental dysfunction might also contribute to detrimental developmental origins of adult health and disease effects. The placenta of one sex over the other might possess greater ability to respond and buffer against environmental insults. Given the potential role of the placenta in effecting the lifetime health of the offspring, it is not surprising that there has been a resurging interest in this organ, including the Human Placental Project launched by the National Institutes of Child Health and Human Development. In this review, we will compare embryological development of the laboratory mouse and human chorioallantoic placentae. Next, evidence that various species, including humans, exhibit normal sex-dependent structural and functional placental differences will be examined followed by how in utero environmental changes (nutritional state, stress, and exposure to environmental chemicals) might interact with fetal sex to affect this organ. Recent data also suggest that paternal state impacts placental function in a sex-dependent manner. The research to date linking placental maladaptive responses and later developmental origins of adult health and disease effects will be explored. Finally, we will focus on how sex chromosomes and epimutations may contribute to sex-dependent differences in placental function, the unanswered questions, and future directions that warrant further consideration. PMID:26241064

  10. CELLULAR AND MOLECULAR MECHANISMS OF ABNORMAL REPRODUCTIVE DEVELOPMENT

    EPA Science Inventory

    This project will determine the critical factors that account for exposures to endocrine disrupting chemicals, or EDCs (ER, AR, AhR mediated and inhibitors of steroidogenesis) during development resulting in adverse effects seen later in life in male and female offspring. Such f...

  11. Assignment of the sex of rearing in the neonate with a disorder of sex development

    PubMed Central

    Mieszczak, Jakub; Houk, Christopher P.; Lee, Peter A.

    2014-01-01

    Purpose of review Infants born with ambiguous genitalia [henceforth referred to as Disorder of Sex Development (DSD)] present a unique set of clinical challenges requiring an organized yet practical approach. Given the low frequency with which these types of patients are encountered, their management is best accomplished by practitioners experienced with DSDs. The goal is to discuss, in light of recent publications, information required to make rational management decisions and provide our perspective. Recent findings An overview of DSD with recent publications germane to diagnosis, management, and sex of rearing decisions is presented. Most DSD etiologies are rare and outcome studies are scarce. A high degree of uncertainty and low level of scientific support have led to most of the controversies in this field. Summary Care of a DSD infant must be individualized. Management decisions are based on multiple factors including reproductive anatomy, DSD etiology, parental/cultural factors, and most importantly outcome. Parents should be provided with an objective, realistic, and complete assessment of their child’s condition including a discussion of the level of uncertainty (regarding outcome) inherent in each individual case. The medical care team must strike a balance between presenting available outcome data and differing opinions on DSD management in helping parents reach management decisions, particularly concerning sex of rearing. PMID:19444113

  12. Molecular mechanisms associated with 46,XX disorders of sex development.

    PubMed

    Knarston, Ingrid; Ayers, Katie; Sinclair, Andrew

    2016-03-01

    In the female gonad, distinct signalling pathways activate ovarian differentiation while repressing the formation of testes. Human disorders of sex development (DSDs), such as 46,XX DSDs, can arise when this signalling is aberrant. Here we review the current understanding of the genetic mechanisms that control gonadal development, with particular emphasis on those that drive or inhibit ovarian differentiation. We discuss how disruption to these molecular pathways can lead to 46,XX disorders of ovarian development. Finally, we look at recently characterized novel genes and pathways that contribute and speculate how advances in technology will aid in further characterization of normal and disrupted human ovarian development. PMID:26846580

  13. A Brief History of the Development of Abnormal Psychology: A Training Guide. Final Report.

    ERIC Educational Resources Information Center

    Phelps, William R.

    Presented for practitioners is a history of the development of abnormal psychology. Areas covered include the following: Early medical concepts, ideas carried over from literature, early treatment of the mentally ill, development of the psychological viewpoint, Freud's psychoanalytic theory, Jung's analytic theory, the individual psychology of…

  14. A Brief History of the Development of Abnormal Psychology: A Training Guide. Final Report.

    ERIC Educational Resources Information Center

    Phelps, William R.

    Presented for practitioners is a history of the development of abnormal psychology. Areas covered include the following: Early medical concepts, ideas carried over from literature, early treatment of the mentally ill, development of the psychological viewpoint, Freud's psychoanalytic theory, Jung's analytic theory, the individual psychology of…

  15. Development of Gender Discrimination: Effect of Sex-Typical and Sex-Atypical Toys.

    ERIC Educational Resources Information Center

    Etaugh, Claire; Duits, Terri L.

    Toddlers (41 girls and 35 boys) between 18 and 37 months of age were given four gender discrimination tasks each consisting of 6 pairs of color drawings. Three of the tasks employed color drawings of preschool girls and boys holding either a sex-typical toy, a sex-atypical toy, or no toy. The fourth employed pictures of sex-typical masculine and…

  16. Sex Difference in Alcoholism: Who is at a Greater Risk for Development of Alcoholic Complication?

    PubMed Central

    Ceylan-Isik, Asli F.; McBride, Shawna M.; Ren, Jun

    2010-01-01

    Aims Alcohol abuse and alcoholism are among the major medical problems afflicting both men and women. While men display a higher prevalence for alcoholism, it is women who suffer a much greater risk for alcoholism-associated bodily damage. Although women generally consume less alcohol compared to men, females usually suffer more severe brain and other organ damage following binge or chronic alcohol abuse. Main methods and key findings: Although many biological (i.e., genetic risk and neurological abnormalities) and psychosocial (i.e., impact of positive drinking expectancies, personality characteristics and deviance proneness) factors appear to impact men and women equally. These factors especially social and environmental, physiological, genetic and neurobiological ones have been demonstrated to contribute to the sex difference in response to alcohol intake, as well as the development of alcoholic complications. A number of neurotransmitters and growth factors may be partially involved in these differences between men and women. The mesolimbic dopamine system is implicated in the development of addictive behaviors. Differences in dopamine receptor density are found between sexes where gonadal steroid hormones may play a role. Inhibitory GABAergic and stimulatory glutamatergic systems also act as neuromodulators in the brain and differences in their specific receptors have been identified between men and women (particularly GABAA receptors and NMDA receptors). Significance Given the variety of factors contributing to the sex difference in response to alcohol intake, alcoholism treatment should take sex dimorphism into consideration. Furthermore, future research needs to be directed towards a better understanding of the mechanism of action of alcohol in both men and women. PMID:20598716

  17. Postnatal lethality and abnormal development of foregut and spleen in Ndrg4 mutant mice.

    PubMed

    Qu, Xianghu; Li, Jing; Baldwin, H Scott

    2016-02-12

    NDRG4 is a member of the NDRG family (N-myc downstream-regulated gene), which is highly expressed in brain and heart. Previous studies showed that Ndrg1-deficient mice exhibited a progressive demyelinating disorder of peripheral nerves and Ndrg4-deficient mice had spatial learning deficits and vulnerabilities to cerebral ischemia. Here, we report generation of Ndrg4 mutant alleles that exhibit several development defects different from those previously reported. Our homozygous mice showed growth retardation and postnatal lethality. Spleen and thymuses of Ndrg4(-/-) mice are considerably reduced in size from 3 weeks of age. Histological analysis revealed abnormal hyperkeratosis in the squamous foregut and abnormal loss of erythrocytes in the spleen of Ndrg4(-/-) mice. In addition, we observed an abnormal hind limb clasping phenotype upon tail suspension suggesting neurological abnormalities. Consistent to these abnormalities, Ndrg4 is expressed in smooth muscle cells of the stomach, macrophages of the spleen and neurons. Availability of the conditional allele for Ndrg4 should facilitate further detailed analyses of the potential roles of Ndrg4 in gut development, nervous system and immune system. PMID:26801554

  18. Sex, glia, and development: interactions in health and disease.

    PubMed

    Schwarz, Jaclyn M; Bilbo, Staci D

    2012-08-01

    Microglia and astrocytes are the primary immune cells within the central nervous system. Microglia influence processes including neural development, synaptic plasticity and cognition; while their activation and production of immune molecules can induce stereotyped sickness behaviors or pathologies including cognitive dysfunction. Given their role in health and disease, we propose that glia may also be a critical link in understanding the etiology of many neuropsychiatric disorders that present with a strong sex-bias in their symptoms or prevalence. Specifically, males are more likely to be diagnosed with disorders that have distinct developmental origins such as autism or schizophrenia. In contrast, females are more likely to be diagnosed with disorders that present later in life, after the onset of adolescence, such as depression and anxiety disorders. In this review we will summarize the evidence suggesting that sex differences in the colonization and function of glia within the normal developing brain may contribute to distinct windows of vulnerability between males and females. We will also highlight the current gaps in our knowledge as well as the future directions and considerations of research aimed at understanding the link between neuroimmune function and sex differences in mental health disorders. PMID:22387107

  19. [Age and sex dependence of schizophrenic delusional themes--a contribution to the understanding of abnormal thinking?].

    PubMed

    Vollmoeller, W

    1983-11-01

    In the frame of statistical evaluations of different kinds of delusional themes some of them depended on sex and age of the schizophrenic patients. Thus, female persons suffered in a significant way much more from delusions with direct influence on their body and delusional jealousy than male persons. On the other hand the symptomatology of the older patients showed significant frequencies in delusions with distant disturbances in comparison with younger ones. The results were discussed in context with the problematic of understanding the delusion. To accentuate the psychosocial connections of psychopathological ways of thinking social clichés respectively common stereotypes were proved. Last not least "regressive" tendencies in delusional themes were regarded in the view of the social situation of the peoples having these symptoms. PMID:6665086

  20. Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development

    PubMed Central

    Suzuki, Erina; Ida, Shinobu; Nakacho, Mariko; Nakabayashi, Kazuhiko; Mizuno, Kentaro; Hayashi, Yutaro; Kohri, Kenjiro; Kojima, Yoshiyuki; Ogata, Tsutomu; Fukami, Maki

    2013-01-01

    Background 46,XY disorders of sex development (46,XY DSD) are genetically heterogeneous conditions. Recently, a few submicroscopic genomic rearrangements have been reported as novel genetic causes of 46,XY DSD. Methodology/Principal Findings To clarify the role of cryptic rearrangements in the development of 46,XY DSD, we performed array-based comparative genomic hybridization analysis for 24 genetic males with genital abnormalities. Heterozygous submicroscopic deletions were identified in three cases (cases 1–3). A ?8.5 Mb terminal deletion at 9p24.1–24.3 was detected in case 1 that presented with complete female-type external genitalia and mental retardation; a ?2.0 Mb interstitial deletion at 20p13 was identified in case 2 with ambiguous external genitalia and short stature; and a ?18.0 Mb interstitial deletion at 2q31.1–32 was found in case 3 with ambiguous external genitalia, mental retardation and multiple anomalies. The genital abnormalities of case 1 could be ascribed to gonadal dysgenesis caused by haploinsufficiency of DMRT1, while those of case 3 were possibly associated with perturbed organogenesis due to a deletion of the HOXD cluster. The deletion in case 2 affected 36 genes, none of which have been previously implicated in sex development. Conclusions/Significance The results indicate that cryptic genomic rearrangements constitute an important part of the molecular bases of 46,XY DSD and that submicroscopic deletions can lead to various types of 46,XY DSD that occur as components of contiguous gene deletion syndromes. Most importantly, our data provide a novel candidate locus for 46,XY DSD at 20p13. PMID:23861871

  1. Management framework paradigms for disorders of sex development.

    PubMed

    Telles-Silveira, Mariana; Knobloch, Felicia; Kater, Claudio E

    2015-10-01

    Until 2005, questions regarding medical treatment and diagnostic information on Disorders of Sex Development (DSD) were not systematically discussed with both the patients and their families; however, the way these patients are currently treated have been changing with time. Interventional changes in the clinical-psychotherapeutic-surgical areas of DSD determine not only different medical recommendations but also help to place the patient and the family into the decisional process of therapy. We must consider two paradigmatic periods that have influenced and transformed the clinical management framework of patients with DSD: a) The "Money era" (1955), which emphasized the role of the gonads as the diagnostic criterion, having the environment as determinant of the sex identity; and b) The Chicago Consensus (2005) phase, in which the role of genetics and molecular biology was critical for an early identification, as well as in building a proper sex identity, emphasizing ethical questions and the "stigma culture". In addition, recent data have focused on the importance of interdisciplinarity and statements on questions concerning Human Rights as key factors in treatment decision making. Despite each of these management models being able to determine specific directions and recommendations regarding the clinical handling of these patients, we verify that a composite of these several models is the clinical routine nowadays. In the present paper, we discuss these several paradigms, and pinpoint clinical differences and their unfolding regarding management of DSD patients and their families. PMID:26331223

  2. The abnormal phosphorylation of tau protein at Ser-202 in Alzheimer disease recapitulates phosphorylation during development.

    TOXLINE Toxicology Bibliographic Information

    Goedert M; Jakes R; Crowther RA; Six J; Lübke U; Vandermeeren M; Cras P; Trojanowski JQ; Lee VM

    1993-06-01

    Tau is a neuronal phosphoprotein whose expression is developmentally regulated. A single tau isoform is expressed in fetal human brain but six isoforms are expressed in adult brain, with the fetal isoform corresponding to the shortest of the adult isoforms. Phosphorylation of tau is also developmentally regulated, as fetal tau is phosphorylated at more sites than adult tau. In Alzheimer disease, the six adult tau isoforms become abnormally phosphorylated and form the paired helical filament, the major fibrous component of the characteristic neurofibrillary lesions. We show here that Ser-202 (in the numbering of the longest human brain tau isoform) is a phosphorylation site that distinguishes fetal from adult tau and we identify it as one of the abnormal phosphorylation sites in Alzheimer disease. The abnormal phosphorylation of tau at Ser-202 in Alzheimer disease thus recapitulates normal phosphorylation during development.

  3. ABNORMAL FUNCTIONAL DEVELOPMENT OF THE HEART, LUNGS, AND KIDNEYS: APPROACHES TO FUNCTIONAL TERATOLOGY

    EPA Science Inventory

    Presentations given at the Conference on Abnormal Functional Development of the Heart, Lungs, and Kidneys are documented in this publication. The meeting was sponsored by the U.S. Environmental Protection Agency and was held in Asheville, NC, May 11-13, 1983. In an attempt to car...

  4. Abnormal pairing of X and Y sex chromosomes during meiosis I in interspecific hybrids of Phodopus campbelli and P. sungorus

    PubMed Central

    Ishishita, Satoshi; Tsuboi, Kazuma; Ohishi, Namiko; Tsuchiya, Kimiyuki; Matsuda, Yoichi

    2015-01-01

    Hybrid sterility plays an important role in the maintenance of species identity and promotion of speciation. Male interspecific hybrids from crosses between Campbell's dwarf hamster (Phodopus campbelli) and the Djungarian hamster (P. sungorus) exhibit sterility with abnormal spermatogenesis. However, the meiotic phenotype of these hybrids has not been well described. In the present work, we observed the accumulation of spermatocytes and apoptosis of spermatocyte-like cells in the testes of hybrids between P. campbelli females and P. sungorus males. In hybrid spermatocytes, a high frequency of asynapsis of X and Y chromosomes during the pachytene-like stage and dissociation of these chromosomes during metaphase I (MI) was observed. No autosomal univalency was observed during pachytene-like and MI stages in the hybrids; however, a low frequency of synapsis between autosomes and X or Y chromosomes, interlocking and partial synapsis between autosomal pairs, and γ-H2AFX staining in autosomal chromatin was observed during the pachytene-like stage. Degenerated MI-like nuclei were frequently observed in the hybrids. Most of the spermatozoa in hybrid epididymides exhibited head malformation. These results indicate that the pairing of X and Y chromosomes is more adversely affected than that of autosomes in Phodopus hybrids. PMID:25801302

  5. Abnormal pairing of X and Y sex chromosomes during meiosis I in interspecific hybrids of Phodopus campbelli and P. sungorus.

    PubMed

    Ishishita, Satoshi; Tsuboi, Kazuma; Ohishi, Namiko; Tsuchiya, Kimiyuki; Matsuda, Yoichi

    2015-01-01

    Hybrid sterility plays an important role in the maintenance of species identity and promotion of speciation. Male interspecific hybrids from crosses between Campbell's dwarf hamster (Phodopus campbelli) and the Djungarian hamster (P. sungorus) exhibit sterility with abnormal spermatogenesis. However, the meiotic phenotype of these hybrids has not been well described. In the present work, we observed the accumulation of spermatocytes and apoptosis of spermatocyte-like cells in the testes of hybrids between P. campbelli females and P. sungorus males. In hybrid spermatocytes, a high frequency of asynapsis of X and Y chromosomes during the pachytene-like stage and dissociation of these chromosomes during metaphase I (MI) was observed. No autosomal univalency was observed during pachytene-like and MI stages in the hybrids; however, a low frequency of synapsis between autosomes and X or Y chromosomes, interlocking and partial synapsis between autosomal pairs, and ?-H2AFX staining in autosomal chromatin was observed during the pachytene-like stage. Degenerated MI-like nuclei were frequently observed in the hybrids. Most of the spermatozoa in hybrid epididymides exhibited head malformation. These results indicate that the pairing of X and Y chromosomes is more adversely affected than that of autosomes in Phodopus hybrids. PMID:25801302

  6. Management of disorders of sex development: editorial commentary.

    PubMed

    Sandberg, David E

    2012-08-01

    In 2005, the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology convened a conference on intersex to review clinical management practices and data from long-term health-related and gender-related outcomes research and to identify key areas for future research. Romao and colleagues provide an overview of the evolving changes after publication of this guidance, informed by experiences in their multidisciplinary clinic. This commentary highlights and expands on several of the topics explored, with a special emphasis on the psychosocial aspects of care for persons affected by disorders of sex development and their families. PMID:22857834

  7. Abnormal development of sensory-motor, visual temporal and parahippocampal cortex in children with learning disabilities and borderline intellectual functioning

    PubMed Central

    Baglio, Francesca; Cabinio, Monia; Ricci, Cristian; Baglio, Gisella; Lipari, Susanna; Griffanti, Ludovica; Preti, Maria G.; Nemni, Raffaello; Clerici, Mario; Zanette, Michela; Blasi, Valeria

    2014-01-01

    Borderline intellectual functioning (BIF) is a condition characterized by an intelligence quotient (IQ) between 70 and 85. BIF children present with cognitive, motor, social, and adaptive limitations that result in learning disabilities and are more likely to develop psychiatric disorders later in life. The aim of this study was to investigate brain morphometry and its relation to IQ level in BIF children. Thirteen children with BIF and 14 age- and sex-matched typically developing (TD) children were enrolled. All children underwent a full IQ assessment (WISC-III scale) and a magnetic resonance (MR) examination including conventional sequences to assess brain structural abnormalities and high resolution 3D images for voxel-based morphometry analysis. To investigate to what extent the group influenced gray matter (GM) volumes, both univariate and multivariate generalized linear model analysis of variance were used, and the varimax factor analysis was used to explore variable correlations and clusters among subjects. Results showed that BIF children, compared to controls have increased regional GM volume in bilateral sensorimotor and right posterior temporal cortices and decreased GM volume in the right parahippocampal gyrus. GM volumes were highly correlated with IQ indices. The present work is a case study of a group of BIF children showing that BIF is associated with abnormal cortical development in brain areas that have a pivotal role in motor, learning, and behavioral processes. Our findings, although allowing for little generalization to the general population, contribute to the very limited knowledge in this field. Future longitudinal MR studies will be useful in verifying whether cortical features can be modified over time even in association with rehabilitative intervention. PMID:25360097

  8. Abnormal development of sensory-motor, visual temporal and parahippocampal cortex in children with learning disabilities and borderline intellectual functioning.

    PubMed

    Baglio, Francesca; Cabinio, Monia; Ricci, Cristian; Baglio, Gisella; Lipari, Susanna; Griffanti, Ludovica; Preti, Maria G; Nemni, Raffaello; Clerici, Mario; Zanette, Michela; Blasi, Valeria

    2014-01-01

    Borderline intellectual functioning (BIF) is a condition characterized by an intelligence quotient (IQ) between 70 and 85. BIF children present with cognitive, motor, social, and adaptive limitations that result in learning disabilities and are more likely to develop psychiatric disorders later in life. The aim of this study was to investigate brain morphometry and its relation to IQ level in BIF children. Thirteen children with BIF and 14 age- and sex-matched typically developing (TD) children were enrolled. All children underwent a full IQ assessment (WISC-III scale) and a magnetic resonance (MR) examination including conventional sequences to assess brain structural abnormalities and high resolution 3D images for voxel-based morphometry analysis. To investigate to what extent the group influenced gray matter (GM) volumes, both univariate and multivariate generalized linear model analysis of variance were used, and the varimax factor analysis was used to explore variable correlations and clusters among subjects. Results showed that BIF children, compared to controls have increased regional GM volume in bilateral sensorimotor and right posterior temporal cortices and decreased GM volume in the right parahippocampal gyrus. GM volumes were highly correlated with IQ indices. The present work is a case study of a group of BIF children showing that BIF is associated with abnormal cortical development in brain areas that have a pivotal role in motor, learning, and behavioral processes. Our findings, although allowing for little generalization to the general population, contribute to the very limited knowledge in this field. Future longitudinal MR studies will be useful in verifying whether cortical features can be modified over time even in association with rehabilitative intervention. PMID:25360097

  9. Sex Role Development of Preschoolers from Two-Parent and One-Parent Families.

    ERIC Educational Resources Information Center

    Brenes, Margarita Elena; And Others

    1985-01-01

    Examines sex-role development in families in which parents were divorced or separated, specifically assessing children's understanding of gender identity and sex-role stereotypes and indicating toy choices during play. (Author/KS)

  10. HIV Programs for Sex Workers: Lessons and Challenges for Developing and Delivering Programs

    PubMed Central

    Wilson, David

    2015-01-01

    There is evidence that HIV prevention programs for sex workers, especially female sex workers, are cost-effective in several contexts, including many western countries, Thailand, India, the Democratic Republic of Congo, Kenya, and Zimbabwe. The evidence that sex worker HIV prevention programs work must not inspire complacency but rather a renewed effort to expand, intensify, and maximize their impact. The PLOS Collection “Focus on Delivery and Scale: Achieving HIV Impact with Sex Workers” highlights major challenges to scaling-up sex worker HIV prevention programs, noting the following: sex worker HIV prevention programs are insufficiently guided by understanding of epidemic transmission dynamics, situation analyses, and programmatic mapping; sex worker HIV and sexually transmitted infection services receive limited domestic financing in many countries; many sex worker HIV prevention programs are inadequately codified to ensure consistency and quality; and many sex worker HIV prevention programs have not evolved adequately to address informal sex workers, male and transgender sex workers, and mobile- and internet-based sex workers. Based on the wider collection of papers, this article presents three major clusters of recommendations: (i) HIV programs focused on sex workers should be prioritized, developed, and implemented based on robust evidence; (ii) national political will and increased funding are needed to increase coverage of effective sex worker HIV prevention programs in low and middle income countries; and (iii) comprehensive, integrated, and rapidly evolving HIV programs are needed to ensure equitable access to health services for individuals involved in all forms of sex work. PMID:26079267

  11. The Development of Sex-Related Differences in Achievement.

    ERIC Educational Resources Information Center

    Petersen, Anne C.

    Although sex differences in research have received considerable attention, few researchers have examined the bias, social context, and process of that research. In analyzing sex differences in academic achievement over the past 10 years, three areas (mathematics, spatial ability, and verbal ability) would appear to establish consistent sex…

  12. Abnormal visual experience during development alters the early stages of visual-tactile integration.

    PubMed

    Niechwiej-Szwedo, Ewa; Chin, Jessica; Wolfe, Paul J; Popovich, Christina; Staines, W Richard

    2016-05-01

    Visual experience during the critical periods in early postnatal life is necessary for the normal development of the visual system. Disruption of visual input during this period results in amblyopia, which is associated with reduced activation of the striate and extrastriate cortices. It is well known that visual input converges with other sensory signals and exerts a significant influence on cortical processing in multiple association areas. Recent work in healthy adults has also shown that task-relevant visual input can modulate neural excitability at very early stages of information processing in the primary somatosensory cortex. Here we used electroencephalography to investigate visual-tactile interactions in adults with abnormal binocular vision due to amblyopia and strabismus. Results showed three main findings. First, in comparison to a visually normal control group, participants with abnormal vision had a significantly lower amplitude of the P50 somatosensory event related potential (ERP) when visual and tactile stimuli were presented concurrently. Second, the amplitude of the P100 somatosensory ERP was significantly greater in participants with abnormal vision. These results indicate that task relevant visual input does not significantly influence the excitability of the primary somatosensory cortex, instead, the excitability of the secondary somatosensory cortex is increased. Third, participants with abnormal vision had a higher amplitude of the P1 visual ERP when a tactile stimulus was presented concurrently. Importantly, these results were not modulated by viewing condition, which indicates that the impact of amblyopia on crossmodal interactions is not simply related to the reduced visual acuity as it was evident when viewing with the unaffected eye and binocularly. These results indicate that the consequences of abnormal visual experience on neurophysiological processing extend beyond the primary and secondary visual areas to other modality-specific areas. PMID:26896697

  13. Human placental development is impaired by abnormal human chorionic gonadotropin signaling in trisomy 21 pregnancies.

    PubMed

    Pidoux, Guillaume; Gerbaud, Pascale; Marpeau, Olivier; Guibourdenche, Jean; Ferreira, Fatima; Badet, Josette; Evain-Brion, Danièle; Frendo, Jean-Louis

    2007-11-01

    Placental development is markedly abnormal in women bearing a fetus with trisomy 21, with defective syncytiotrophoblast (ST) formation and function. The ST occurs from cytotrophoblast (CT) fusion and plays an essential role by secreting human chorionic gonadotropin (hCG), which is essential to placental development. In trisomy of chromosome 21 (T21) pregnancies, CTs do not fuse and differentiate properly into STs, leading to the secretion of an abnormal and weakly bioactive hCG. In this study we report for the first time, a marked decrease in the number of mature hCG receptor (LH/CG-R) molecules expressed at the surface of T21-affected CTs. The LH/CG-R seems to be functional based on sequencing that revealed no mutations or deletions and binding of recombinant hCG as well as endogenous hCG. We hypothesize that weakly bioactive hCG and lower LH/CG-R expression may be involved in the defect of ST formation. Interestingly, the defective ST formation is mimicked in normal CT cultures by using LH/CG-R small interfering RNA, which result in a lower hCG secretion. Furthermore, treatment of T21-affected CTs with recombinant hCG overcomes in vitro the T21 phenotype, allowing CTs to fuse and form a large ST. These results illustrate for the first time in trisomy 21 pathology, how abnormal endogenous hCG signaling impairs human placental development. PMID:17690166

  14. Overexpression of Anti-Müllerian Hormone Disrupts Gonadal Sex Differentiation, Blocks Sex Hormone Synthesis, and Supports Cell Autonomous Sex Development in the Chicken.

    PubMed

    Lambeth, Luke S; Morris, Kirsten; Ayers, Katie L; Wise, Terry G; O'Neil, Terri; Wilson, Susanne; Cao, Yu; Sinclair, Andrew H; Cutting, Andrew D; Doran, Timothy J; Smith, Craig A

    2016-03-01

    The primary role of Anti-Müllerian hormone (AMH) during mammalian development is the regression of Müllerian ducts in males. This highly conserved function is retained in birds and is supported by the high levels of AMH expression in developing testes. Mammalian AMH expression is regulated by a combination of transcription factors, the most important being Sry-type high-mobility-group box transcription factor-9 (SOX9). In the chicken embryo, however, AMH mRNA expression precedes that of SOX9, leading to the view that AMH may play a more central role in avian testicular development. To define its role in chicken gonadal development, AMH was overexpressed using the RCASBP viral vector. AMH caused the gonads of both sexes to develop as small and undeveloped structures at both embryonic and adult stages. Molecular analysis revealed that although female gonads developed testis-like cords, gonads lacked Sertoli cells and were incapable of steroidogenesis. A similar gonadal phenotype was also observed in males, with a complete loss of both Sertoli cells, disrupted SOX9 expression and gonadal steroidogenesis. At sexual maturity both sexes showed a female external phenotype but retained sexually dimorphic body weights that matched their genetic sexes. These data suggest that AMH does not operate as an early testis activator in the chicken but can affect downstream events, such as sex steroid hormone production. In addition, this study provides a unique opportunity to assess chicken sexual development in an environment of sex hormone deficiency, demonstrating the importance of both hormonal signaling and direct cell autonomous factors for somatic sex identity in birds. PMID:26809122

  15. Sex-specific gonadal and gene expression changes throughout development in fathead minnow

    EPA Science Inventory

    Although fathead minnows (Pimephales promelas) are commonly used as a model fish in endocrine disruption studies, none have characterized sex-specific baseline expression of genes involved in sex differentiation during development in this species. Using a sex-linked DNA marker t...

  16. Links Between Sex-Typed Time Use in Middle Childhood and Gender Development in Early Adolescence

    ERIC Educational Resources Information Center

    McHale, Susan M.; Kim, Ji-Yeon; Whiteman, Shawn; Crouter, Ann C.

    2004-01-01

    The authors studied sex-typing in the kinds (e.g., sports, handicrafts) and social contexts (same- vs. other-sex companions) of children's free time activities, and the links between sex-typed activities and gender development over 2 years. Participants were 200 White, working- and middle-class children (103 girls, 97 boys; mean age = 10.86…

  17. Familial liability, obstetric complications and childhood development abnormalities in early onset schizophrenia: a case control study

    PubMed Central

    2011-01-01

    Background Genetic and environmental risk factors and gene-environment interactions are linked to higher likelihood of developing schizophrenia in accordance with the neurodevelopmental model of disease; little is known about risk factors and early development in early-onset schizophrenia (EOS) and very early-onset schizophrenia (VEOS). Methods We present a case-control study of a sample of 21 patients with EOS/VEOS and a control group of 21 patients with migraine, recruited from the Child Neuropsychiatry Unit, Department of Neurologic and Psychiatric Science, University of Bari, Italy. The aim was to assess the statistical association between VEOS/EOS and family history for psychiatric disorders, obstetric complications and childhood developmental abnormalities using 2 × 2 tables and a Chi Squared or Fisher test. Results The results show a statistical association between EOS/VEOS and schizophrenia and related disorders (P = 0.02) and personality disorders (P = 0.003) in relatives, and between EOS/VEOS and developmental abnormalities of early relational skills (P = 0.008) and learning (P = 0.04); there is not a statistically relevant difference between cases and controls (P > 0.05) for any obstetric complications (pre, peri and postpartum). Conclusions This study confirms the significant role of familial liability but not of obstetric complications in the pathogenesis of VEOS/EOS; the association between childhood developmental abnormalities and EOS/VEOS supports the neurodevelopmental model of disease. PMID:21492438

  18. A defect in beta-oxidation causes abnormal inflorescence development in Arabidopsis.

    PubMed Central

    Richmond, T A; Bleecker, A B

    1999-01-01

    The abnormal inflorescence meristem1 (aim1) mutation affects inflorescence and floral development in Arabidopsis. After the transition to reproductive growth, the aim1 inflorescence meristem becomes disorganized, producing abnormal floral meristems and resulting in plants with severely reduced fertility. The derived amino acid sequence of AIM1 shows extensive similarity to the cucumber multifunctional protein involved in beta-oxidation of fatty acids, which possesses l-3-hydroxyacyl-CoA hydrolyase, l-3-hydroxyacyl-dehydrogenase, d-3-hydroxyacyl-CoA epimerase, and Delta(3), Delta(2)-enoyl-CoA isomerase activities. A defect in beta-oxidation has been confirmed by demonstrating the resistance of the aim1 mutant to 2,4-diphenoxybutyric acid, which is converted to the herbicide 2,4-D by the beta-oxidation pathway. In addition, the loss of AIM1 alters the fatty acid composition of the mature adult plant. PMID:10521521

  19. [PREIMPLANTATION DEVELOPMENT OF HUMAN EMBRYOS WITH NUMERICAL CHROMOSOME ABNORMALITIES IN VITRO].

    PubMed

    Chaplia, O V; Gontar, J V; Bilko, N M

    2015-01-01

    The study was focused on morphokynetic characteristics of in vitro cultured human embryos that were considered to be aneuploid or euploid according to the preimplantation genetic screening results. Among all the embryos examined only 34.2% were chromosomally balanced, while others possessed isolated or combined chromosome abnormalities. Although morphological features of cleaving pathologic and euploid embryos did not differ significantly, on the fifth day of culture chromosomally balanced specimen formed "expanded" blastocyst twice as frequently as abnormal ones. Moreover, development of 38.4% of aneuploid embryos was compromised before the initiation of cavitation. Thus, prolonged embryo culture advances selection of samples with the highest implantation potential for the transfer on the basis of the morphokynetic characteristics and helps to avoid additional genetic testing. PMID:26419069

  20. Sleep and Sex: What Can Go Wrong? A Review of the Literature on Sleep Related Disorders and Abnormal Sexual Behaviors and Experiences

    PubMed Central

    Schenck, Carlos H.; Arnulf, Isabelle; Mahowald, Mark W.

    2007-01-01

    Study Objectives: To formulate the first classification of sleep related disorders and abnormal sexual behaviors and experiences. Design: A computerized literature search was conducted, and other sources, such as textbooks, were searched. Results: Many categories of sleep related disorders were represented in the classification: parasomnias (confusional arousals/sleepwalking, with or without obstructive sleep apnea; REM sleep behavior disorder); sleep related seizures; Kleine-Levin syndrome (KLS); severe chronic insomnia; restless legs syndrome; narcolepsy; sleep exacerbation of persistent sexual arousal syndrome; sleep related painful erections; sleep related dissociative disorders; nocturnal psychotic disorders; miscellaneous states. Kleine-Levin syndrome (78 cases) and parasomnias (31 cases) were most frequently reported. Parasomnias and sleep related seizures had overlapping and divergent clinical features. Thirty-one cases of parasomnias (25 males; mean age, 32 years) and 7 cases of sleep related seizures (4 males; mean age, 38 years) were identified. A full range of sleep related sexual behaviors with self and/or bed partners or others were reported, including masturbation, sexual vocalizations, fondling, sexual intercourse with climax, sexual assault/rape, ictal sexual hyperarousal, ictal orgasm, and ictal automatism. Adverse physical and/or psychosocial effects from the sleepsex were present in all parasomnia and sleep related seizure cases, but pleasurable effects were reported by 5 bed partners and by 3 patients with sleep related seizures. Forensic consequences were common, occurring in 35.5% (11/31) of parasomnia cases, with most (9/11) involving minors. All parasomnias cases reported amnesia for the sleepsex, in contrast to 28.6% (2/7) of sleep related seizure cases. Polysomnography (without penile tumescence monitoring), performed in 26 of 31 parasomnia cases, documented sexual moaning from slow wave sleep in 3 cases and sexual intercourse during stage 1 sleep/wakefulness in one case (with sex provoked by the bed partner). Confusional arousals (CAs) were diagnosed as the cause of “sleepsex” (“sexsomnia”) in 26 cases (with obstructive sleep apnea [OSA] comorbidity in 4 cases), and sleepwalking in 2 cases, totaling 90.3% (28/31) of cases being NREM sleep parasomnias. REM behavior disorder was the presumed cause in the other 3 cases. Bedtime clonazepam therapy was effective in 90% (9/10) of treated parasomnia cases; nasal continuous positive airway pressure therapy was effective in controlling comorbid OSA and CAs in both treated cases. All five treated patients with sleep related sexual seizures responded to anticonvulsant therapy. The hypersexuality in KLS, which was twice as common in males compared to females, had no reported effective therapy. Conclusions: A broad range of sleep related disorders associated with abnormal sexual behaviors and experiences exists, with major clinical and forensic consequences. Citation: Schenck CH; Arnulf I; Mahowald MW et al. Sleep and sex: what can go wrong? A review of the literature on sleep related disorders and abnormal sexual behaviors and experiences. SLEEP 2007;30(6):683-702. PMID:17580590

  1. The Development of Sex Role Stereotypes in the Third Year: Relationships to Gender Labeling, Gender Identity, Sex-Typed Toy Preference, and Family Characteristics.

    ERIC Educational Resources Information Center

    Weinraub, Marsha; And Others

    1984-01-01

    The onset and development of preschoolers' awareness of sex role stereotypes, gender labeling, gender identity, and sex-typed toy preference were explored in 26-, 31-, and 36-month-old children. Family characteristics that affect early sex role development also were investigated. (Author/RH)

  2. Abnormalities in embryological development in total anomalous pulmonary venous connection. A case report.

    PubMed

    B?lgr?dean, Mihaela; Cintez?, Eliza; Cîrstoveanu, C; Enculescu, Augustina; Ple?ca, Doina

    2013-01-01

    Pulmonary venous system development starts early in embryonic life. Abnormalities in the development of pulmonary venous system occur either by the absence of common pulmonary vein communication to the splanchnic plexus or by the absence of its incorporation into the dorsal wall of the left atrium. We present the case of a 10-day-old male newborn, diagnosed with TAPVC, operated, with long recovery and, who died by pneumonia, heart failure, and obstructive pulmonary disease (one pulmonary vein obstructed and another one with severe stenosis). Total anomalous pulmonary venous connection (TAPVC) reflects one of the most severe forms of congenital heart disease, with important clinical consequences. PMID:24068416

  3. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.

    PubMed

    Wang, Yingli; Xiao, Ran; Yang, Fan; Karim, Baktiar O; Iacovelli, Anthony J; Cai, Juanliang; Lerner, Charles P; Richtsmeier, Joan T; Leszl, Jen M; Hill, Cheryl A; Yu, Kai; Ornitz, David M; Elisseeff, Jennifer; Huso, David L; Jabs, Ethylin Wang

    2005-08-01

    Apert syndrome is an autosomal dominant disorder characterized by malformations of the skull, limbs and viscera. Two-thirds of affected individuals have a S252W mutation in fibroblast growth factor receptor 2 (FGFR2). To study the pathogenesis of this condition, we generated a knock-in mouse model with this mutation. The Fgfr2(+/S252W) mutant mice have abnormalities of the skeleton, as well as of other organs including the brain, thymus, lungs, heart and intestines. In the mutant neurocranium, we found a midline sutural defect and craniosynostosis with abnormal osteoblastic proliferation and differentiation. We noted ectopic cartilage at the midline sagittal suture, and cartilage abnormalities in the basicranium, nasal turbinates and trachea. In addition, from the mutant long bones, in vitro cell cultures grown in osteogenic medium revealed chondrocytes, which were absent in the controls. Our results suggest that altered cartilage and bone development play a significant role in the pathogenesis of the Apert syndrome phenotype. PMID:15975938

  4. Multidimensional Aspects of Young Children's Sex-Role Development.

    ERIC Educational Resources Information Center

    Schau, Candace Garrett; Busch, Judith Wilde

    This article reports a study in which a sample of 89 White and 34 Spanish-language heritage children from ages 2 1/2 to 6 1/2 from the lower- and middle-classes responded to two cognitive measures (classification skill and gender knowledge), three verbal sex-typing measures (occupations, toys, and peer behaviors), and a behavioral sex-typing…

  5. The development of hepatic stellate cells in normal and abnormal human fetuses - an immunohistochemical study.

    PubMed

    Loo, Christine K C; Pereira, Tamara N; Pozniak, Katarzyna N; Ramsing, Mette; Vogel, Ida; Ramm, Grant A

    2015-08-01

    The precise embryological origin and development of hepatic stellate cells is not established. Animal studies and observations on human fetuses suggest that they derive from posterior mesodermal cells that migrate via the septum transversum and developing diaphragm to form submesothelial cells beneath the liver capsule, which give rise to mesenchymal cells including hepatic stellate cells. However, it is unclear if these are similar to hepatic stellate cells in adults or if this is the only source of stellate cells. We have studied hepatic stellate cells by immunohistochemistry, in developing human liver from autopsies of fetuses with and without malformations and growth restriction, using cellular Retinol Binding Protein-1 (cRBP-1), Glial Fibrillary Acidic Protein (GFAP), and ?-Smooth Muscle Actin (?SMA) antibodies, to identify factors that influence their development. We found that hepatic stellate cells expressing cRBP-1 are present from the end of the first trimester of gestation and reduce in density throughout gestation. They appear abnormally formed and variably reduced in number in fetuses with abnormal mesothelial Wilms Tumor 1 (WT1) function, diaphragmatic hernia and in ectopic liver nodules without mesothelium. Stellate cells showed similarities to intravascular cells and their presence in a fetus with diaphragm agenesis suggests they may be derived from circulating stem cells. Our observations suggest circulating stem cells as well as mesothelium can give rise to hepatic stellate cells, and that they require normal mesothelial function for their development. PMID:26265759

  6. The development of hepatic stellate cells in normal and abnormal human fetuses – an immunohistochemical study

    PubMed Central

    Loo, Christine K C; Pereira, Tamara N; Pozniak, Katarzyna N; Ramsing, Mette; Vogel, Ida; Ramm, Grant A

    2015-01-01

    The precise embryological origin and development of hepatic stellate cells is not established. Animal studies and observations on human fetuses suggest that they derive from posterior mesodermal cells that migrate via the septum transversum and developing diaphragm to form submesothelial cells beneath the liver capsule, which give rise to mesenchymal cells including hepatic stellate cells. However, it is unclear if these are similar to hepatic stellate cells in adults or if this is the only source of stellate cells. We have studied hepatic stellate cells by immunohistochemistry, in developing human liver from autopsies of fetuses with and without malformations and growth restriction, using cellular Retinol Binding Protein-1 (cRBP-1), Glial Fibrillary Acidic Protein (GFAP), and α-Smooth Muscle Actin (αSMA) antibodies, to identify factors that influence their development. We found that hepatic stellate cells expressing cRBP-1 are present from the end of the first trimester of gestation and reduce in density throughout gestation. They appear abnormally formed and variably reduced in number in fetuses with abnormal mesothelial Wilms Tumor 1 (WT1) function, diaphragmatic hernia and in ectopic liver nodules without mesothelium. Stellate cells showed similarities to intravascular cells and their presence in a fetus with diaphragm agenesis suggests they may be derived from circulating stem cells. Our observations suggest circulating stem cells as well as mesothelium can give rise to hepatic stellate cells, and that they require normal mesothelial function for their development. PMID:26265759

  7. [Intersex and differences of sex development: background, diagnostics, and concepts of care].

    PubMed

    Holterhus, P-M

    2013-12-01

    Intersex is an inherited incongruence of chromosomal, gonadal, and genital sexual characteristics. A typical clinical situation of intersex is the ambiguous genitalia in the newborn. Diagnostics, counseling, and therapy should be offered by specialized multidisciplinary health-care teams. The focus is not only on medical issues but also on psychological, social, and ethical aspects. In the international literature, intersex is now termed "disorders of sex development" (DSD). Alternatively, some authors use "differences of sex development" to underline that patients do not necessarily feel they have a "disorder" but rather a "difference" of sex development compared with normal sex development. PMID:24337131

  8. A mechanical model predicts morphological abnormalities in the developing human brain.

    PubMed

    Budday, Silvia; Raybaud, Charles; Kuhl, Ellen

    2014-01-01

    The developing human brain remains one of the few unsolved mysteries of science. Advancements in developmental biology, neuroscience, and medical imaging have brought us closer than ever to understand brain development in health and disease. However, the precise role of mechanics throughout this process remains underestimated and poorly understood. Here we show that mechanical stretch plays a crucial role in brain development. Using the nonlinear field theories of mechanics supplemented by the theory of finite growth, we model the human brain as a living system with a morphogenetically growing outer surface and a stretch-driven growing inner core. This approach seamlessly integrates the two popular but competing hypotheses for cortical folding: axonal tension and differential growth. We calibrate our model using magnetic resonance images from very preterm neonates. Our model predicts that deviations in cortical growth and thickness induce morphological abnormalities. Using the gyrification index, the ratio between the total and exposed surface area, we demonstrate that these abnormalities agree with the classical pathologies of lissencephaly and polymicrogyria. Understanding the mechanisms of cortical folding in the developing human brain has direct implications in the diagnostics and treatment of neurological disorders, including epilepsy, schizophrenia, and autism. PMID:25008163

  9. A mechanical model predicts morphological abnormalities in the developing human brain

    PubMed Central

    Budday, Silvia; Raybaud, Charles; Kuhl, Ellen

    2014-01-01

    The developing human brain remains one of the few unsolved mysteries of science. Advancements in developmental biology, neuroscience, and medical imaging have brought us closer than ever to understand brain development in health and disease. However, the precise role of mechanics throughout this process remains underestimated and poorly understood. Here we show that mechanical stretch plays a crucial role in brain development. Using the nonlinear field theories of mechanics supplemented by the theory of finite growth, we model the human brain as a living system with a morphogenetically growing outer surface and a stretch-driven growing inner core. This approach seamlessly integrates the two popular but competing hypotheses for cortical folding: axonal tension and differential growth. We calibrate our model using magnetic resonance images from very preterm neonates. Our model predicts that deviations in cortical growth and thickness induce morphological abnormalities. Using the gyrification index, the ratio between the total and exposed surface area, we demonstrate that these abnormalities agree with the classical pathologies of lissencephaly and polymicrogyria. Understanding the mechanisms of cortical folding in the developing human brain has direct implications in the diagnostics and treatment of neurological disorders, including epilepsy, schizophrenia, and autism. PMID:25008163

  10. A mechanical model predicts morphological abnormalities in the developing human brain

    NASA Astrophysics Data System (ADS)

    Budday, Silvia; Raybaud, Charles; Kuhl, Ellen

    2014-07-01

    The developing human brain remains one of the few unsolved mysteries of science. Advancements in developmental biology, neuroscience, and medical imaging have brought us closer than ever to understand brain development in health and disease. However, the precise role of mechanics throughout this process remains underestimated and poorly understood. Here we show that mechanical stretch plays a crucial role in brain development. Using the nonlinear field theories of mechanics supplemented by the theory of finite growth, we model the human brain as a living system with a morphogenetically growing outer surface and a stretch-driven growing inner core. This approach seamlessly integrates the two popular but competing hypotheses for cortical folding: axonal tension and differential growth. We calibrate our model using magnetic resonance images from very preterm neonates. Our model predicts that deviations in cortical growth and thickness induce morphological abnormalities. Using the gyrification index, the ratio between the total and exposed surface area, we demonstrate that these abnormalities agree with the classical pathologies of lissencephaly and polymicrogyria. Understanding the mechanisms of cortical folding in the developing human brain has direct implications in the diagnostics and treatment of neurological disorders, including epilepsy, schizophrenia, and autism.

  11. Disorders of Sex Development (DSD): Networking and Standardization Considerations.

    PubMed

    Sandberg, D E; Callens, N; Wisniewski, A B

    2015-05-01

    Syndromes resulting in Disorders of Sex Development (DSD) are individually rare. Historically, this fact has hindered both clinical research and the delivery of evidence-based care. Recognizing the need for advancement, members of European and North American medical societies produced policy statements, notably the Consensus Statement on Management of Intersex Disorders, which recognize that optimal healthcare in DSD requires multidisciplinary teams in conjunction with networking of treatment centers and continued development of patient registries. This paper summarizes efforts in Europe and the U.S. toward creating networks focused on expanding discovery and improving healthcare and quality of life outcomes in DSD. The objectives and function of registry-based networks (EuroDSD/I-DSD), learning collaboratives (DSD-net), clinical outcomes research (DSD-Life), and networking hybrids (DSD-TRN) are reviewed. Opportunities for, and barriers to standardization in research and care are highlighted in light of practical considerations, for example, limitations in reliably classifying anatomic phenotypes and gaps in behavioral health staffing resources. The role of patient-reported outcomes is considered, with emphasis on integrating patient perspectives, given findings of limited agreement in outcome ratings by healthcare providers and patients. Finally, the characteristics of clinical centers likely to deliver the highest quality outcomes are discussed. PMID:25970713

  12. The Development and Pilot Testing of a Model to Create Awareness of Sex Bias and Sex Stereotyping in Vocational Education. Final Report.

    ERIC Educational Resources Information Center

    Griffin, Wilma P.; Kelly, Joan M.

    A model for increasing awareness of sex-bias and sex stereotyping in vocational education was developed. The model consisted of a five-hour workshop which included these elements: (1) an introductory slide presentation which provided an overview of sex stereotyping; (2) five group activities (The Exchange, A Closer Look, Taking Stock, What a…

  13. Transcriptome Analysis for Abnormal Spike Development of the Wheat Mutant dms

    PubMed Central

    Zhu, Xin-Xin; Li, Qiao-Yun; Shen, Chun-Cai; Duan, Zong-Biao; Yu, Dong-Yan; Niu, Ji-Shan; Ni, Yong-Jing; Jiang, Yu-Mei

    2016-01-01

    Background Wheat (Triticum aestivum L.) spike development is the foundation for grain yield. We obtained a novel wheat mutant, dms, characterized as dwarf, multi-pistil and sterility. Although the genetic changes are not clear, the heredity of traits suggests that a recessive gene locus controls the two traits of multi-pistil and sterility in self-pollinating populations of the medium plants (M), such that the dwarf genotype (D) and tall genotype (T) in the progeny of the mutant are ideal lines for studies regarding wheat spike development. The objective of this study was to explore the molecular basis for spike abnormalities of dwarf genotype. Results Four unigene libraries were assembled by sequencing the mRNAs of the super-bulked differentiating spikes and stem tips of the D and T plants. Using integrative analysis, we identified 419 genes highly expressed in spikes, including nine typical homeotic genes of the MADS-box family and the genes TaAP2, TaFL and TaDL. We also identified 143 genes that were significantly different between young spikes of T and D, and 26 genes that were putatively involved in spike differentiation. The result showed that the expression levels of TaAP1-2, TaAP2, and other genes involved in the majority of biological processes such as transcription, translation, cell division, photosynthesis, carbohydrate transport and metabolism, and energy production and conversion were significantly lower in D than in T. Conclusions We identified a set of genes related to wheat floral organ differentiation, including typical homeotic genes. Our results showed that the major causal factors resulting in the spike abnormalities of dms were the lower expression homeotic genes, hormonal imbalance, repressed biological processes, and deficiency of construction materials and energy. We performed a series of studies on the homeotic genes, however the other three causal factors for spike abnormal phenotype of dms need further study. PMID:26982202

  14. Disorders of sex development: effect of molecular diagnostics.

    PubMed

    Achermann, John C; Domenice, Sorahia; Bachega, Tania A S S; Nishi, Mirian Y; Mendonca, Berenice B

    2015-08-01

    Disorders of sex development (DSDs) are a diverse group of conditions that can be challenging to diagnose accurately using standard phenotypic and biochemical approaches. Obtaining a specific diagnosis can be important for identifying potentially life-threatening associated disorders, as well as providing information to guide parents in deciding on the most appropriate management for their child. Within the past 5 years, advances in molecular methodologies have helped to identify several novel causes of DSDs; molecular tests to aid diagnosis and genetic counselling have now been adopted into clinical practice. Occasionally, genetic profiling of embryos prior to implantation as an adjunct to assisted reproduction, prenatal diagnosis of at-risk pregnancies and confirmatory testing of positive results found during newborn biochemical screening are performed. Of the available genetic tests, the candidate gene approach is the most popular. New high-throughput DNA analysis could enable a genetic diagnosis to be made when the aetiology is unknown or many differential diagnoses are possible. Nonetheless, concerns exist about the use of genetic tests. For instance, a diagnosis is not always possible even using new molecular approaches (which can be worrying for the parents) and incidental information obtained during the test might cause anxiety. Careful selection of the genetic test indicated for each condition remains important for good clinical practice. The purpose of this Review is to describe advances in molecular biological techniques for diagnosing DSDs. PMID:25942653

  15. Development of abnormal gait detection and vibratory stimulation system on lower limbs to improve gait stability.

    PubMed

    Yu, Mi; Piao, Yong-Jun; Eun, Hye-in; Kim, Dong-Wook; Ryu, Mun-ho; Kim, Nam-Gyun

    2010-10-01

    The purpose of this study is to develop an abnormal gait detection algorithm and a vibratory stimulation system on a lower limb to improve gait stability and prevent falls. The system consists of a gait measurement module, an abnormal gait detection module, and a vibratory stimulation module. The gait measurement module measures the vertical acceleration of the ankle during walking using an accelerometer. The measured acceleration values are sent to a portable microcontroller, which controls vibratory stimulations to the ankles based on an algorithm that detects the peak acceleration values. If the acceleration peaks are found to occur irregularly, the abnormal gait detection algorithm activates the vibratory stimulation module. To determine the effect of vibratory stimulations under dynamic condition, this study investigated the contribution of ankle muscle proprioception on the control of dynamic stability and lower limb kinematics while walking using vibratory stimulation to alter the muscle spindle output of individuals' left lower limb. Vibrators were attached to the left ankle joint (tibialis anterior, triceps surae). Participants were required to walk along a travel path and step over an obstacle placed in their way. There were four task conditions; an obstacle (10%, 20%, and 30% of the participants' height) was positioned at the midpoint of the walkway, or the participants' walking path remained clear. For each obstacle condition, participants experienced either no vibration, or vibration of the tibialis anterior muscle and the triceps surae muscle of the left lower limb. Vibration began upon detection of an abnormal gait and continued for one second. Vibrating the ankle muscles of the left lower limb while stepping over an obstacle resulted in significant changes in COM behavior on both the anterior/posterior (A/P) and medial/lateral (M/L) planes. The results provide strong evidence that the primary endings of the ankle muscle spindles play a significant role in the control of posture and balance during the swing phase of locomotion by providing information on the movement of the body's COM with respect to the support foot. PMID:20703630

  16. dissatisfaction, a gene involved in sex-specific behavior and neural development of Drosophila melanogaster

    PubMed Central

    Finley, Kim D.; Taylor, Barbara J.; Milstein, Marc; McKeown, Michael

    1997-01-01

    Few mutations link well defined behaviors with individual neurons and the activity of specific genes. In Drosophila, recent evidence indicates the presence of a doublesex-independent pathway controlling sexual behavior and neuronal differentiation. We have identified a gene, dissatisfaction (dsf), that affects sex-specific courtship behaviors and neural differentiation in both sexes without an associated general behavioral debilitation. Male and female mutant animals exhibit abnormalities in courtship behaviors, suggesting a requirement for dsf in the brain. Virgin dsf females resist males during courtship and copulation and fail to lay mature eggs. dsf males actively court and attempt copulation with both mature males and females but are slow to copulate because of maladroit abdominal curling. Structural abnormalities in specific neurons indicate a role for dsf in the differentiation of sex-specific abdominal neurons. The egg-laying defect in females correlates with the absence of motor neuronal innervation on uterine muscles, and the reduced abdominal curling in males correlates with alteration in motor neuronal innervation of male ventral abdominal muscles. Epistasis experiments show that dsf acts in a tra-dependent and dsx-independent manner, placing dsf in the dsx-independent portion of the sex determination cascade. PMID:9023356

  17. The use of molecular and cytogenetic methods as a valuable tool in the detection of chromosomal abnormalities in horses: a case of sex chromosome chimerism in a Spanish purebred colt.

    PubMed

    Demyda-Peyrás, S; Membrillo, A; Bugno-Poniewierska, M; Pawlina, K; Anaya, G; Moreno-Millán, M

    2013-01-01

    Chromosomal abnormalities associated to sex chromosomes are reported as a problem more common than believed to be in horses. Most of them remain undiagnosed due to the complexity of the horse karyotype and the lack of interest of breeders and veterinarians in this type of diagnosis. Approximately 10 years ago, the Spanish Purebred Breeders Association implemented a DNA paternity test to evaluate the pedigree of every newborn foal. All candidates who showed abnormal or uncertain results are routinely submitted to cytogenetical analysis to evaluate the presence of chromosomal abnormalities. We studied the case of a foal showing 3 and even 4 different alleles in several loci in the short tandem repeat (STR) -based DNA parentage test. To confirm these results, a filiation test was repeated using follicular hair DNA showing normal results. A complete set of conventional and molecular cytogenetic analysis was performed to determine their chromosomal complements. C-banding and FISH had shown that the foal presents a sex chimerism 64,XX/64,XY with a cellular percentage of approximately 70/30, diagnosed in blood samples. The use of a diagnostic approach combining routine parentage QF-PCR-based STR screening tested with classical or molecular cytogenetic analysis could be a powerful tool that allows early detection of foals that will have a poor or even no reproductive performance due to chromosomal abnormalities, saving time, efforts and breeders' resources. PMID:23735586

  18. The character of abnormalities found in eye development of quail embruos exposed under space flight conditions

    NASA Astrophysics Data System (ADS)

    Grigoryan, E.; Dadheva, O.; Polinskaya, V.; Guryeva, T.

    The avian embryonic eye is used as a model system for studies on the environmental effects on central nervous system development. Here we present results of qualitative investigation of the eye development in quail embryos incubated in micro-"g" environment. In this study we used eyes of Japanese quail (Coturnix coturnix Japonica) embryos "flown" onboard biosatellite Kosmos-1129 and on Mir station within the framework of Mir-NASA Program. Eyes obtained from embryos ranging in age from 3-12 days (E3-E12) were prepared histologically and compared with those of the synchronous and laboratory gound controls. Ther most careful consideration was given to finding and analysis of eye developmental abnormalities. Then they were compared with those already described by experimental teratology for birds and mammals. At the stage of the "eye cup" (E3) we found the case of invalid formation of the inner retina. The latter was represented by disorganized neuroblasts occupying whole posterior chamber of the eye. On the 7th day of quail eye development, at the period of cellular growth activation some cases of small eyes with many folds of overgrowing neural and pigmented retinal layers were detected. In retinal folds of these eyes the normal layering was disturbed as well as the formation of aqueous body and pecten oculi. At this time point the changes were also found in the anterior part of the eye. The peculiarities came out of the bigger width of the cornea and separation of its layers, but were found in synchronous control as well. Few embryos of E10 had also eyes with the abnormities described for E7 but this time they were more vivid because of the completion of eye tissue differentiation. At the stage E12 we found the case evaluated as microphthalmia attending by overgrowth of anterior pigmented tissues - iris and ciliary body attached with the cornea. Most, but not all, of abnormalities we found in eye morphogeneses belonged to the birds "flown" aboard Kosmos- 1129 and were likely induced by specific conditions of that flight. All sorts of disturbances we observed in eye development were similar with dom inated types found in birds and mammals on ground and could be induced by factors we intend to discuss in our report.

  19. Adolescents' lifetime experience of selling sex: development over five years.

    PubMed

    Fredlund, Cecilia; Svensson, Frida; Svedin, Carl Göran; Priebe, Gisela; Wadsby, Marie

    2013-01-01

    Lifetime experience of selling sex among adolescents was investigated together with sociodemographic correlates, parent-child relationship, and the existence of people to confide in. Changes over time regarding the selling of sex were investigated through a comparison of data from 2004 and 2009. This study was carried out using 3,498 adolescents from a representative sample of Swedish high school students with a mean age 18.3 years. Of these adolescents, 1.5% stated that they had given sexual services for reimbursement and both male and female buyers existed. The adolescents who had sold sex had a poorer parent-child relationship during childhood and had fewer people to confide in about problems and worries. Changes over time were found especially regarding the Internet as a contact source and also immigrant background. PMID:23590352

  20. Development of PCR-Based Markers to Determine the Sex of Kelps.

    PubMed

    Lipinska, Agnieszka P; Ahmed, Sophia; Peters, Akira F; Faugeron, Sylvain; Cock, J Mark; Coelho, Susana M

    2015-01-01

    Sex discriminating genetic markers are commonly used to facilitate breeding programs in economically and ecologically important animal and plant species. However, despite their considerable economic and ecological value, the development of sex markers for kelp species has been very limited. In this study, we used the recently described sequence of the sex determining region (SDR) of the brown algal model Ectocarpus to develop novel DNA-based sex-markers for three commercially relevant kelps: Laminaria digitata, Undaria pinnatifida and Macrocystis pyrifera. Markers were designed within nine protein coding genes of Ectocarpus male and female (U/V) sex chromosomes and tested on gametophytes of the three kelp species. Seven primer pairs corresponding to three loci in the Ectocarpus SDR amplified sex-specific bands in the three kelp species, yielding at least one male and one female marker for each species. Our work has generated the first male sex-specific markers for L. digitata and U. pinnatifida, as well as the first sex markers developed for the genus Macrocystis. The markers and methodology presented here will not only facilitate seaweed breeding programs but also represent useful tools for population and demography studies and provide a means to investigate the evolution of sex determination across this largely understudied eukaryotic group. PMID:26496392

  1. Development of PCR‐Based Markers to Determine the Sex of Kelps

    PubMed Central

    Lipinska, Agnieszka P.; Ahmed, Sophia; Peters, Akira F.; Faugeron, Sylvain; Cock, J. Mark; Coelho, Susana M.

    2015-01-01

    Sex discriminating genetic markers are commonly used to facilitate breeding programs in economically and ecologically important animal and plant species. However, despite their considerable economic and ecological value, the development of sex markers for kelp species has been very limited. In this study, we used the recently described sequence of the sex determining region (SDR) of the brown algal model Ectocarpus to develop novel DNA-based sex-markers for three commercially relevant kelps: Laminaria digitata, Undaria pinnatifida and Macrocystis pyrifera. Markers were designed within nine protein coding genes of Ectocarpus male and female (U/V) sex chromosomes and tested on gametophytes of the three kelp species. Seven primer pairs corresponding to three loci in the Ectocarpus SDR amplified sex-specific bands in the three kelp species, yielding at least one male and one female marker for each species. Our work has generated the first male sex-specific markers for L. digitata and U. pinnatifida, as well as the first sex markers developed for the genus Macrocystis. The markers and methodology presented here will not only facilitate seaweed breeding programs but also represent useful tools for population and demography studies and provide a means to investigate the evolution of sex determination across this largely understudied eukaryotic group. PMID:26496392

  2. Sex, drugs and sports: prostaglandins, epitestosterone and sexual development.

    PubMed

    Sanders, Bryan K

    2007-01-01

    Amateau and McCarthy's findings published in Nature Neuroscience (June 2004) are noteworthy for suggesting a role for prostaglandins in sexual development. However, evidence suggests that in manipulating PGE2, they unknowingly implicated 3alpha-hydroxysteroid dehydrogenase [E.C. 1.1.1.50], 3(or 17)alpha-hydroxysteroid dehydrogenase [E.C. 1.1.1.209] and their respective products, androsterone (ADT) and epitestosterone (EpiT), in the developmental masculinization of sex behavior. EpiT is generally regarded as a hormonally inactive 17alpha-epimer of testosterone (T). In rats, the kidney is the primary site of EpiT formation, whereas in humans it originates from the gonads, with only a small contribution secreted by the adrenals. Because the ratio of T to EpiT is nearly constant, it is presently used for assessing steroid abuse in competitive sports, where the World Anti-Doping Agency (WADA) considers a T/EpiT ratio >4 evidence of T doping. Despite its central role in the detection of illict anabolic steroid use, our knowledge of factors effecting EpiT production is poor. Clues in the literature, however, reveal that prostaglandin-mediated processes, such as LHRH release, may influence its production. Antimycotics, NSAIDs, and opioid analgesics used in sports medicine are all known to effect prostaglandin E2 synthesis. Primary PGs are potent inhibitors of ADT oxidation, while indomethacin, a prostaglandin blocker, powerfully inhibits 3alpha-HSD reduction and ADT oxidation. This is significant because ADT inhibits the oxidation of EpiT, and may modulate its antiandrogenic and neuroprotective effects. It is hypothesized that the T/EpiT ratio is increased by COX-2 inhibitors and opiod analgesics, and decreased by antimycotics that do not impair testosterone biosynthesis. Given the devastating personal and career consequences that may result from false positive drug tests, substantive research on the effects of PGE2 manipulations on EpiT is warranted. PMID:17382481

  3. Unbiased Identification of Patients with Disorders of Sex Development

    PubMed Central

    Hanauer, David A.; Gardner, Melissa; Sandberg, David E.

    2014-01-01

    Disorders of sex development (DSD) represent a collection of rare diseases that generate substantial controversy regarding best practices for diagnosis and treatment. A significant barrier preventing a better understanding of how patients with these conditions should be evaluated and treated, especially from a psychological standpoint, is the lack of systematic and standardized approaches to identify cases for study inclusion. Common approaches include “hand-picked” subjects already known to the practice, which could introduce bias. We implemented an informatics-based approach to identify patients with DSD from electronic health records (EHRs) at three large, academic children’s hospitals. The informatics approach involved comprehensively searching EHRs at each hospital using a combination of structured billing codes as an initial filtering strategy followed by keywords applied to the free text clinical documentation. The informatics approach was implemented to replicate the functionality of an EHR search engine (EMERSE) available at one of the hospitals. At the two hospitals that did not have EMERSE, we compared case ascertainment using the informatics method to traditional approaches employed for identifying subjects. Potential cases identified using all approaches were manually reviewed by experts in DSD to verify eligibility criteria. At the two institutions where both the informatics and traditional approaches were applied, the informatics approach identified substantially higher numbers of potential study subjects. The traditional approaches yielded 14 and 28 patients with DSD, respectively; the informatics approach yielded 226 and 77 patients, respectively. The informatics approach missed only a few cases that the traditional approaches identified, largely because those cases were known to the study team, but patient data were not in the particular children’s hospital EHR. The use of informatics approaches to search electronic documentation can result in substantially larger numbers of subjects identified for studies of rare diseases such as DSD, and these approaches can be applied across hospitals. PMID:25268640

  4. Abnormal Mammary Development in 129:STAT1-Null Mice is Stroma-Dependent

    PubMed Central

    Cardiff, Robert D.; Trott, Josephine F.; Hovey, Russell C.; Hubbard, Neil E.; Engelberg, Jesse A.; Tepper, Clifford G.; Willis, Brandon J.; Khan, Imran H.; Ravindran, Resmi K.; Chan, Szeman R.; Schreiber, Robert D.; Borowsky, Alexander D.

    2015-01-01

    Female 129:Stat1-null mice (129S6/SvEvTac-Stat1tm1Rds homozygous) uniquely develop estrogen-receptor (ER)-positive mammary tumors. Herein we report that the mammary glands (MG) of these mice have altered growth and development with abnormal terminal end buds alongside defective branching morphogenesis and ductal elongation. We also find that the 129:Stat1-null mammary fat pad (MFP) fails to sustain the growth of 129S6/SvEv wild-type and Stat1-null epithelium. These abnormalities are partially reversed by elevated serum progesterone and prolactin whereas transplantation of wild-type bone marrow into 129:Stat1-null mice does not reverse the MG developmental defects. Medium conditioned by 129:Stat1-null epithelium-cleared MFP does not stimulate epithelial proliferation, whereas it is stimulated by medium conditioned by epithelium-cleared MFP from either wild-type or 129:Stat1-null females having elevated progesterone and prolactin. Microarrays and multiplexed cytokine assays reveal that the MG of 129:Stat1-null mice has lower levels of growth factors that have been implicated in normal MG growth and development. Transplanted 129:Stat1-null tumors and their isolated cells also grow slower in 129:Stat1-null MG compared to wild-type recipient MG. These studies demonstrate that growth of normal and neoplastic 129:Stat1-null epithelium is dependent on the hormonal milieu and on factors from the mammary stroma such as cytokines. While the individual or combined effects of these factors remains to be resolved, our data supports the role of STAT1 in maintaining a tumor-suppressive MG microenvironment. PMID:26075897

  5. Sleep spindling and fluid intelligence across adolescent development: sex matters

    PubMed Central

    Bódizs, Róbert; Gombos, Ferenc; Ujma, Péter P.; Kovács, Ilona

    2014-01-01

    Evidence supports the intricate relationship between sleep electroencephalogram (EEG) spindling and cognitive abilities in children and adults. Although sleep EEG changes during adolescence index fundamental brain reorganization, a detailed analysis of sleep spindling and the spindle-intelligence relationship was not yet provided for adolescents. Therefore, adolescent development of sleep spindle oscillations were studied in a home polysomnographic study focusing on the effects of chronological age and developmentally acquired overall mental efficiency (fluid IQ) with sex as a potential modulating factor. Subjects were 24 healthy adolescents (12 males) with an age range of 15–22 years (mean: 18 years) and fluid IQ of 91–126 (mean: 104.12, Raven Progressive Matrices Test). Slow spindles (SSs) and fast spindles (FSs) were analyzed in 21 EEG derivations by using the individual adjustment method (IAM). A significant age-dependent increase in average FS density (r = 0.57; p = 0.005) was found. Moreover, fluid IQ correlated with FS density (r = 0.43; p = 0.04) and amplitude (r = 0.41; p = 0.049). The latter effects were entirely driven by particularly reliable FS-IQ correlations in females [r = 0.80 (p = 0.002) and r = 0.67 (p = 0.012), for density and amplitude, respectively]. Region-specific analyses revealed that these correlations peak in the fronto-central regions. The control of the age-dependence of FS measures and IQ scores did not considerably reduce the spindle-IQ correlations with respect to FS density. The only positive spindle-index of fluid IQ in males turned out to be the frequency of FSs (r = 0.60, p = 0.04). Increases in FS density during adolescence may index reshaped structural connectivity related to white matter maturation in the late developing human brain. The continued development over this age range of cognitive functions is indexed by specific measures of sleep spindling unraveling gender differences in adolescent brain maturation and perhaps cognitive strategy. PMID:25506322

  6. Application of sex-selected semen in heifer development and breeding programs.

    PubMed

    Seidel, George E

    2013-11-01

    The only practicable method for sexing mammalian sperm is by measuring DNA content with a flow cytometer/cell sorter. Although many other methods have been tried and patented, they either are inaccurate, damage sperm severely, or otherwise are unsuitable for practical application. Procedures for sexing sperm damage them slightly, and fewer sperm are packaged per straw than with unsexed semen. These 2 characteristics result in lower fertility with sexed than unsexed semen. Incremental improvements of current sexing procedures are being developed constantly. PMID:24182438

  7. Normal susceptibility to visual illusions in abnormal development: evidence from Williams Syndrome

    PubMed Central

    Palomares, Melanie; Ogbonna, Chinyere; Landau, Barbara; Egeth, Howard

    2009-01-01

    The perception of visual illusions is a powerful diagnostic of implicit integration of global information. Many illusions occur when length, size, orientation, or luminance are misjudged because neighboring visuospatial information cannot be ignored. We asked if people with Williams Syndrome (WS), a rare genetic disorder that results in severely impaired global visuospatial construction abilities, are also susceptible to the context of visual illusions. Remarkably, we found that illusions influenced WS individuals to the same degree as normal adults, although size discrimination was somewhat impaired in WS. Our results are evidence that illusions are a consequence of the brain’s bias to implicitly integrate visual information, even in a population known to have difficultly in explicitly representing spatial relationships among objects. Moreover, these results suggest that implicit and non-implicit integration of spatial information have different vulnerabilities in abnormal development. PMID:19400429

  8. Development of Sex-Typed Play Behavior in Toddlers.

    ERIC Educational Resources Information Center

    O'Brien, Marion; Huston, Aletha C.

    1985-01-01

    Observed play of 52 toddlers with a set of socially stereotyped masculine, feminine, and neutral toys in a day care setting over 14 months to (1) determine the age at which toddlers consistently exhibit sex-stereotyped toy choices in a natural setting and (2) investigate relation of parents' expectations and the children's own knowledge of gender…

  9. Hyperactivity, Shyness, and Sex: Development and Socio-Emotional Functioning

    ERIC Educational Resources Information Center

    Rydell, Ann-Margret; Diamantopoulou, Sofia; Thorell, Lisa B.; Bohlin, Gunilla

    2009-01-01

    Based on formulations about the possible consequences for adaptation of gender non-normative behaviour, we investigated predictive and concurrent relations of hyperactivity and shyness to various aspects of adaptation focusing on possible effects of sex. At ages 5-6, parents and preschool teachers rated hyperactivity and shyness for 151 children…

  10. Hyperactivity, Shyness, and Sex: Development and Socio-Emotional Functioning

    ERIC Educational Resources Information Center

    Rydell, Ann-Margret; Diamantopoulou, Sofia; Thorell, Lisa B.; Bohlin, Gunilla

    2009-01-01

    Based on formulations about the possible consequences for adaptation of gender non-normative behaviour, we investigated predictive and concurrent relations of hyperactivity and shyness to various aspects of adaptation focusing on possible effects of sex. At ages 5-6, parents and preschool teachers rated hyperactivity and shyness for 151 children…

  11. Selenoprotein N deficiency in mice is associated with abnormal lung development

    PubMed Central

    Moghadaszadeh, Behzad; Rider, Branden E.; Lawlor, Michael W.; Childers, Martin K.; Grange, Robert W.; Gupta, Kushagra; Boukedes, Steve S.; Owen, Caroline A.; Beggs, Alan H.

    2013-01-01

    Mutations in the human SEPN1 gene, encoding selenoprotein N (SepN), cause SEPN1-related myopathy (SEPN1-RM) characterized by muscle weakness, spinal rigidity, and respiratory insufficiency. As with other members of the selenoprotein family, selenoprotein N incorporates selenium in the form of selenocysteine (Sec). Most selenoproteins that have been functionally characterized are involved in oxidation-reduction (redox) reactions, with the Sec residue located at their catalytic site. To model SEPN1-RM, we generated a Sepn1-knockout (Sepn1?/?) mouse line. Homozygous Sepn1?/? mice are fertile, and their weight and lifespan are comparable to wild-type (WT) animals. Under baseline conditions, the muscle histology of Sepn1?/? mice remains normal, but subtle core lesions could be detected in skeletal muscle after inducing oxidative stress. Ryanodine receptor (RyR) calcium release channels showed lower sensitivity to caffeine in SepN deficient myofibers, suggesting a possible role of SepN in RyR regulation. SepN deficiency also leads to abnormal lung development characterized by enlarged alveoli, which is associated with decreased tissue elastance and increased quasi-static compliance of Sepn1?/? lungs. This finding raises the possibility that the respiratory syndrome observed in patients with SEPN1 mutations may have a primary pulmonary component in addition to the weakness of respiratory muscles.—Moghadaszadeh, B., Rider B. E., Lawlor, M. W., Childers, M. K., Grange, R. W., Gupta, K., Boukedes, S. S., Owen, C. A., Beggs, A. H. Selenoprotein N deficiency in mice is associated with abnormal lung development. PMID:23325319

  12. Adolescent Girls' Sex Role Development: Relationship with Sports Participation, Self-Esteem, and Age at Menarche.

    ERIC Educational Resources Information Center

    Butcher, Janice E.

    1989-01-01

    Investigates development of sex role orientation among adolescent girls, and explores its relationship with sports participation, self-esteem, and age at menarche. Concludes that relationship of sex role orientation with sports participation and self-esteem was not an interactive one, but was reflective of individual differences beginning in late…

  13. Positioning Sex Educators: A Critical Ethnography of a Professional Development Workshop

    ERIC Educational Resources Information Center

    Scott, Brigitte C.

    2013-01-01

    In this ethnographic research, I offer an analysis of a state-sponsored professional development workshop for sex educators. Positioning theory is used to understand how the lived space of the workshop -- including texts, talk and silence -- positions sex education teachers as professionals and practitioners with certain (limited) speaking rights…

  14. Positioning Sex Educators: A Critical Ethnography of a Professional Development Workshop

    ERIC Educational Resources Information Center

    Scott, Brigitte C.

    2013-01-01

    In this ethnographic research, I offer an analysis of a state-sponsored professional development workshop for sex educators. Positioning theory is used to understand how the lived space of the workshop -- including texts, talk and silence -- positions sex education teachers as professionals and practitioners with certain (limited) speaking rights…

  15. Decision Processes During Development of Molecular Biomarkers for Gonadal Phenotypic Sex

    EPA Science Inventory

    Molecular biomarkers for determination of gonadal phenotypic sex in the Japanese medaka (Oryzias latipes), will serve as a case study. The medaka has unique features that aid in the development of appropriate molecular biomarkers of gonad phenotype, a) genetic sex can be determin...

  16. Sex differences in thickness, and folding developments throughout the cortex.

    PubMed

    Mutlu, A Kadir; Schneider, Maude; Debbané, Martin; Badoud, Deborah; Eliez, Stephan; Schaer, Marie

    2013-11-15

    While significant differences in male and female brain structures have commonly been reported, only a few studies have focused on the sex differences in the way the cortex matures over time. Here, we investigated cortical thickness maturation between the age of 6 to 30 years, using 209 longitudinally-acquired brain MRI scans. Significant sex differences in the trajectories of cortical thickness change with age were evidenced using non-linear mixed effects models. Similar statistical analyses were computed to quantify the differences between cortical gyrification changes with age in males and females. During adolescence, we observed a statistically significant higher rate of cortical thinning in females compared to males in the right temporal regions, the left temporoparietal junction and the left orbitofrontal cortex. This finding is interpreted as a faster maturation of the social brain areas in females. Concomitantly, statistically significant sex differences in cortical folding changes with age were observed only in one cluster of the right prefrontal regions, suggesting that the mechanisms underlying cortical thickness and gyrification changes with age are quite distinct. Sexual dimorphism in the developmental course of the cortical maturation may be associated with the different age of onset and clinical presentation of many psychiatric disorders between males and females. PMID:23721724

  17. Abnormal development of tapetum and microspores induced by chemical hybridization agent SQ-1 in wheat.

    PubMed

    Wang, Shuping; Zhang, Gaisheng; Song, Qilu; Zhang, Yingxin; Li, Zheng; Guo, Jialin; Niu, Na; Ma, Shoucai; Wang, Junwei

    2015-01-01

    Chemical hybridization agent (CHA)-induced male sterility is an important tool in crop heterosis. To demonstrate that CHA-SQ-1-induced male sterility is associated with abnormal tapetal and microspore development, the cytology of CHA-SQ-1-treated plant anthers at various developmental stages was studied by light microscopy, scanning and transmission electron microscopy, in situ terminal deoxynucleotidyl transferasemediated dUTP nick end-labelling (TUNEL) assay and DAPI staining. The results indicated that the SQ-1-treated plants underwent premature tapetal programmed cell death (PCD), which was initiated at the early-uninucleate stage of microspore development and continued until the tapetal cells were completely degraded; the process of microspore development was then blocked. Microspores with low-viability (fluorescein diacetate staining) were aborted. The study suggests that premature tapetal PCD is the main cause of pollen abortion. Furthermore, it determines the starting period and a key factor in CHA-SQ-1-induced male sterility at the cell level, and provides cytological evidence to further study the mechanism between PCD and male sterility. PMID:25803723

  18. Ultrastructural and cellular basis for the development of abnormal myocardial mechanics during the transition from hypertension to heart failure

    PubMed Central

    Shah, Sanjiv J.; Aistrup, Gary L.; Gupta, Deepak K.; O'Toole, Matthew J.; Nahhas, Amanda F.; Schuster, Daniel; Chirayil, Nimi; Bassi, Nikhil; Ramakrishna, Satvik; Beussink, Lauren; Misener, Sol; Kane, Bonnie; Wang, David; Randolph, Blake; Ito, Aiko; Wu, Megan; Akintilo, Lisa; Mongkolrattanothai, Thitipong; Reddy, Mahendra; Kumar, Manvinder; Arora, Rishi; Ng, Jason

    2013-01-01

    Although the development of abnormal myocardial mechanics represents a key step during the transition from hypertension to overt heart failure (HF), the underlying ultrastructural and cellular basis of abnormal myocardial mechanics remains unclear. We therefore investigated how changes in transverse (T)-tubule organization and the resulting altered intracellular Ca2+ cycling in large cell populations underlie the development of abnormal myocardial mechanics in a model of chronic hypertension. Hearts from spontaneously hypertensive rats (SHRs; n = 72) were studied at different ages and stages of hypertensive heart disease and early HF and were compared with age-matched control (Wistar-Kyoto) rats (n = 34). Echocardiography, including tissue Doppler and speckle-tracking analysis, was performed just before euthanization, after which T-tubule organization and Ca2+ transients were studied using confocal microscopy. In SHRs, abnormalities in myocardial mechanics occurred early in response to hypertension, before the development of overt systolic dysfunction and HF. Reduced longitudinal, circumferential, and radial strain as well as reduced tissue Doppler early diastolic tissue velocities occurred in concert with T-tubule disorganization and impaired Ca2+ cycling, all of which preceded the development of cardiac fibrosis. The time to peak of intracellular Ca2+ transients was slowed due to T-tubule disruption, providing a link between declining cell ultrastructure and abnormal myocardial mechanics. In conclusion, subclinical abnormalities in myocardial mechanics occur early in response to hypertension and coincide with the development of T-tubule disorganization and impaired intracellular Ca2+ cycling. These changes occur before the development of significant cardiac fibrosis and precede the development of overt cardiac dysfunction and HF. PMID:24186100

  19. Deficiency of the Chromatin Regulator Brpf1 Causes Abnormal Brain Development*

    PubMed Central

    You, Linya; Zou, Jinfeng; Zhao, Hong; Bertos, Nicholas R.; Park, Morag; Wang, Edwin; Yang, Xiang-Jiao

    2015-01-01

    Epigenetic mechanisms are important in different neurological disorders, and one such mechanism is histone acetylation. The multivalent chromatin regulator BRPF1 (bromodomain- and plant homeodomain-linked (PHD) zinc finger-containing protein 1) recognizes different epigenetic marks and activates three histone acetyltransferases, so it is both a reader and a co-writer of the epigenetic language. The three histone acetyltransferases are MOZ, MORF, and HBO1, which are also known as lysine acetyltransferase 6A (KAT6A), KAT6B, and KAT7, respectively. The MORF gene is mutated in four neurodevelopmental disorders sharing the characteristic of intellectual disability and frequently displaying callosal agenesis. Here, we report that forebrain-specific inactivation of the mouse Brpf1 gene caused early postnatal lethality, neocortical abnormalities, and partial callosal agenesis. With respect to the control, the mutant forebrain contained fewer Tbr2-positive intermediate neuronal progenitors and displayed aberrant neurogenesis. Molecularly, Brpf1 loss led to decreased transcription of multiple genes, such as Robo3 and Otx1, important for neocortical development. Surprisingly, elevated expression of different Hox genes and various other transcription factors, such as Lhx4, Foxa1, Tbx5, and Twist1, was also observed. These results thus identify an important role of Brpf1 in regulating forebrain development and suggest that it acts as both an activator and a silencer of gene expression in vivo. PMID:25568313

  20. Deficiency of the chromatin regulator BRPF1 causes abnormal brain development.

    PubMed

    You, Linya; Zou, Jinfeng; Zhao, Hong; Bertos, Nicholas R; Park, Morag; Wang, Edwin; Yang, Xiang-Jiao

    2015-03-13

    Epigenetic mechanisms are important in different neurological disorders, and one such mechanism is histone acetylation. The multivalent chromatin regulator BRPF1 (bromodomain- and plant homeodomain-linked (PHD) zinc finger-containing protein 1) recognizes different epigenetic marks and activates three histone acetyltransferases, so it is both a reader and a co-writer of the epigenetic language. The three histone acetyltransferases are MOZ, MORF, and HBO1, which are also known as lysine acetyltransferase 6A (KAT6A), KAT6B, and KAT7, respectively. The MORF gene is mutated in four neurodevelopmental disorders sharing the characteristic of intellectual disability and frequently displaying callosal agenesis. Here, we report that forebrain-specific inactivation of the mouse Brpf1 gene caused early postnatal lethality, neocortical abnormalities, and partial callosal agenesis. With respect to the control, the mutant forebrain contained fewer Tbr2-positive intermediate neuronal progenitors and displayed aberrant neurogenesis. Molecularly, Brpf1 loss led to decreased transcription of multiple genes, such as Robo3 and Otx1, important for neocortical development. Surprisingly, elevated expression of different Hox genes and various other transcription factors, such as Lhx4, Foxa1, Tbx5, and Twist1, was also observed. These results thus identify an important role of Brpf1 in regulating forebrain development and suggest that it acts as both an activator and a silencer of gene expression in vivo. PMID:25568313

  1. Facial Metrics in Children with Corticotrophin-Producing Pituitary Adenomas Suggest Abnormalities in Midface Development

    PubMed Central

    Keil, Margaret F.; Stratakis, Constantine A.

    2011-01-01

    Background Tumors of the hypothalamic-pituitary unit have been linked to genetic syndromes that are associated with midfacial abnormalities. Aim We hypothesized that mutations of genes that affect the development of the face (and consequently of the anterior pituitary) may be present in children with ACTH-producing pituitary adenomas, and if this is true then facial measurements would be different from those predicted by parental features. Methods We studied 20 children with cortico-tropinomas and a control group and their parents. All facial measurements were expressed according to standard deviation scores. Results Significant differences were seen between the children with pituitary adenomas and their parents for vertical facial height measures: nasal length (p <0.001), lower facial height (p <0.03) and overall facial height (p <0.01). Conclusion We conclude that some of the indices of midline craniofacial development, in particular those affecting the vertical axis, are different in children with corticotroph adenomas producing ACTH. PMID:19344074

  2. Disruption of Eaat2b, a glutamate transporter, results in abnormal motor behaviors in developing zebrafish

    PubMed Central

    McKeown, Kelly Anne; Moreno, Rosa; Hall, Victoria L.; Ribera, Angeles B.; Downes, Gerald B.

    2014-01-01

    Analysis of zebrafish mutants that have defects in motor behavior can allow entrée into the hindbrain and spinal cord networks that control locomotion. Here, we report that zebrafish techno trousers (tnt) locomotor mutants harbor a mutation in slc1a2b, which encodes Eaat2b, a plasma membrane glutamate transporter. We used tnt mutants to explore the effects of impaired glutamate transporter activity on locomotor network function. Wild-type larvae perform robust swimming behavior in response to touch stimuli at two and four days after fertilization. In contrast, tnt mutant larvae demonstrate aberrant, exaggerated body bends beginning two days after fertilization and they are almost paralyzed four days after fertilization. We show that slc1a2b is expressed in glial cells in a dynamic fashion across development, which may explain the abnormal sequence of motor behaviors demonstrated by tnt mutants. We also show that tnt larvae demonstrate enhanced excitation of neurons, consistent with the predicted effects of excessive glutamate. These findings illustrate the dynamic regulation and importance of glutamate transporters during development. Since glutamate toxicity caused by EAAT2 dysfunction is thought to promote several different neurological disorders in humans, including epilepsy and neurodegenerative diseases, tnt mutants hold promise as a new tool to better understand these pathologies. PMID:22094018

  3. Neural tube defects and abnormal brain development in F52-deficient mice.

    PubMed Central

    Wu, M; Chen, D F; Sasaoka, T; Tonegawa, S

    1996-01-01

    F52 is a myristoylated, alanine-rich substrate for protein kinase C. We have generated F52-deficient mice by the gene targeting technique. These mutant mice manifest severe neural tube defects that are not associated with other complex malformations, a phenotype reminiscent of common human neural tube defects. The neural tube defects observed include both exencephaly and spina bifida, and the phenotype exhibits partial penetrance with about 60% of homozygous embryos developing neural tube defects. Exencephaly is the prominent type of defect and leads to high prenatal lethality. Neural tube defects are observed in a smaller percentage of heterozygous embryos (about 10%). Abnormal brain development and tail formation occur in homozygous mutants and are likely to be secondary to the neural tube defects. Disruption of F52 in mice therefore identifies a gene whose mutation results in isolated neural tube defects and may provide an animal model for common human neural tube defects. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 PMID:8700893

  4. A Restorative Justice Approach to Empathy Development in Sex Offenders: An Exploratory Study

    ERIC Educational Resources Information Center

    Roseman, Christopher P.; Ritchie, Martin; Laux, John M.

    2009-01-01

    The authors describe an exploratory study in sex offender treatment using a restorative justice approach to examine the shame, guilt, and empathy development of convicted sexual offenders. Implications for clinical practice and future research are highlighted. (Contains 3 tables.)

  5. It's all about sex: male-female differences in lung development and disease

    PubMed Central

    Carey, Michelle A.; Card, Jeffrey W.; Voltz, James W.; Arbes, Samuel J.; Germolec, Dori R.; Korach, Kenneth S.; Zeldin, Darryl C.

    2008-01-01

    Accumulating evidence suggests that gender impacts the incidence, susceptibility and severity of several lung diseases. Gender also influences lung development and physiology. Data from both human and animal studies suggests that sex hormones may contribute to disease pathogenesis or serve as protective factors, depending on the disease involved. In this review, the influence of gender and sex hormones on lung development and pathology will be discussed, with specific emphasis on pulmonary fibrosis, asthma and cancer. PMID:17764971

  6. Selenoprotein N deficiency in mice is associated with abnormal lung development.

    PubMed

    Moghadaszadeh, Behzad; Rider, Branden E; Lawlor, Michael W; Childers, Martin K; Grange, Robert W; Gupta, Kushagra; Boukedes, Steve S; Owen, Caroline A; Beggs, Alan H

    2013-04-01

    Mutations in the human SEPN1 gene, encoding selenoprotein N (SepN), cause SEPN1-related myopathy (SEPN1-RM) characterized by muscle weakness, spinal rigidity, and respiratory insufficiency. As with other members of the selenoprotein family, selenoprotein N incorporates selenium in the form of selenocysteine (Sec). Most selenoproteins that have been functionally characterized are involved in oxidation-reduction (redox) reactions, with the Sec residue located at their catalytic site. To model SEPN1-RM, we generated a Sepn1-knockout (Sepn1(-/-)) mouse line. Homozygous Sepn1(-/-) mice are fertile, and their weight and lifespan are comparable to wild-type (WT) animals. Under baseline conditions, the muscle histology of Sepn1(-/-) mice remains normal, but subtle core lesions could be detected in skeletal muscle after inducing oxidative stress. Ryanodine receptor (RyR) calcium release channels showed lower sensitivity to caffeine in SepN deficient myofibers, suggesting a possible role of SepN in RyR regulation. SepN deficiency also leads to abnormal lung development characterized by enlarged alveoli, which is associated with decreased tissue elastance and increased quasi-static compliance of Sepn1(-/-) lungs. This finding raises the possibility that the respiratory syndrome observed in patients with SEPN1 mutations may have a primary pulmonary component in addition to the weakness of respiratory muscles. PMID:23325319

  7. Abnormalities in synaptic dynamics during development in a mouse model of spinocerebellar ataxia type 1.

    PubMed

    Hatanaka, Yusuke; Watase, Kei; Wada, Keiji; Nagai, Yoshitaka

    2015-01-01

    Late-onset neurodegenerative diseases are characterized by neurological symptoms and progressive neuronal death. Accumulating evidence suggests that neuronal dysfunction, rather than neuronal death, causes the symptoms of neurodegenerative diseases. However, the mechanisms underlying the dysfunction that occurs prior to cell death remain unclear. To investigate the synaptic basis of this dysfunction, we employed in vivo two-photon imaging to analyse excitatory postsynaptic dendritic protrusions. We used Sca1(154Q/2Q) mice, an established knock-in mouse model of the polyglutamine disease spinocerebellar ataxia type 1 (SCA1), which replicates human SCA1 features including ataxia, cognitive impairment, and neuronal death. We found that Sca1(154Q/2Q) mice exhibited greater synaptic instability than controls, without synaptic loss, in the cerebral cortex, where obvious neuronal death is not observed, even before the onset of distinct symptoms. Interestingly, this abnormal synaptic instability was evident in Sca1(154Q/2Q) mice from the synaptic developmental stage, and persisted into adulthood. Expression of synaptic scaffolding proteins was also lower in Sca1(154Q/2Q) mice than controls before synaptic maturation. As symptoms progressed, synaptic loss became evident. These results indicate that aberrant synaptic instability, accompanied by decreased expression of scaffolding proteins during synaptic development, is a very early pathology that precedes distinct neurological symptoms and neuronal cell death in SCA1. PMID:26531852

  8. Abnormalities in synaptic dynamics during development in a mouse model of spinocerebellar ataxia type 1

    PubMed Central

    Hatanaka, Yusuke; Watase, Kei; Wada, Keiji; Nagai, Yoshitaka

    2015-01-01

    Late-onset neurodegenerative diseases are characterized by neurological symptoms and progressive neuronal death. Accumulating evidence suggests that neuronal dysfunction, rather than neuronal death, causes the symptoms of neurodegenerative diseases. However, the mechanisms underlying the dysfunction that occurs prior to cell death remain unclear. To investigate the synaptic basis of this dysfunction, we employed in vivo two-photon imaging to analyse excitatory postsynaptic dendritic protrusions. We used Sca1154Q/2Q mice, an established knock-in mouse model of the polyglutamine disease spinocerebellar ataxia type 1 (SCA1), which replicates human SCA1 features including ataxia, cognitive impairment, and neuronal death. We found that Sca1154Q/2Q mice exhibited greater synaptic instability than controls, without synaptic loss, in the cerebral cortex, where obvious neuronal death is not observed, even before the onset of distinct symptoms. Interestingly, this abnormal synaptic instability was evident in Sca1154Q/2Q mice from the synaptic developmental stage, and persisted into adulthood. Expression of synaptic scaffolding proteins was also lower in Sca1154Q/2Q mice than controls before synaptic maturation. As symptoms progressed, synaptic loss became evident. These results indicate that aberrant synaptic instability, accompanied by decreased expression of scaffolding proteins during synaptic development, is a very early pathology that precedes distinct neurological symptoms and neuronal cell death in SCA1. PMID:26531852

  9. Sry expression level and protein isoform differences play a role in abnormal testis development in C57BL/6J mice carrying certain Sry alleles.

    PubMed Central

    Albrecht, Kenneth H; Young, Maureen; Washburn, Linda L; Eicher, Eva M

    2003-01-01

    Transfer of certain Mus domesticus-derived Y chromosomes (Sry(DOM) alleles, e.g., Sry(POS) and Sry(AKR)) onto the C57BL/6J (B6) mouse strain causes abnormal gonad development due to an aberrant interaction between the Sry(DOM) allele and the B6-derived autosomal (tda) genes. For example, B6 XY(POS) fetuses develop ovaries and ovotestes and B6 XY(AKR) fetuses have delayed testis cord development. To test whether abnormal testis development is caused by insufficient Sry(DOM) expression, two approaches were used. First, gonad development and relative Sry expression levels were examined in fetal gonads from two strains of B6 mice that contained a single M. domesticus-derived and a single M. musculus-derived Sry allele (B6-Y(POS,RIII) and B6-Y(AKR,RIII)). In both cases, presence of the M. musculus Sry(RIII) allele corrected abnormal testis development. On the B6 background, Sry(POS) was expressed at about half the level of Sry(RIII) whereas Sry(AKR) and Sry(RIII) were equally expressed. On an F(1) hybrid background, both Sry(POS) and Sry(RIII) expression increased, but Sry(POS) expression increased to a greater extent. Second, sexual development and Sry expression levels were determined in XX mice carrying a transgene expressing Sry(POS) controlled by POS-derived or MUS-derived regulatory regions. In both cases one B6 transgenic line was recovered in which XX transgenic mice developed only testicular tissue but cord development was delayed despite normal Sry transcriptional initiation and overexpression. For three transgenes where B6 XX transgenic mice developed as females, hermaphrodites, or males, the percentage of XX transgenic males increased on an F(1) background. For the one transgene examined, Sry expression increased on an F(1) background. These results support a model in which delayed testis development is caused by the presence of particular DOM SRY protein isoforms and this, combined with insufficient Sry expression, causes sex reversal. These results also indicate that at least one tda gene regulates Sry expression, possibly by directly binding to Sry regulatory regions. PMID:12750339

  10. The trajectory of gray matter development in Broca's area is abnormal in people who stutter.

    PubMed

    Beal, Deryk S; Lerch, Jason P; Cameron, Brodie; Henderson, Rhaeling; Gracco, Vincent L; De Nil, Luc F

    2015-01-01

    The acquisition and mastery of speech-motor control requires years of practice spanning the course of development. People who stutter often perform poorly on speech-motor tasks thereby calling into question their ability to establish the stable neural motor programs required for masterful speech-motor control. There is evidence to support the assertion that these neural motor programs are represented in the posterior part of Broca's area, specifically the left pars opercularis. Consequently, various theories of stuttering causation posit that the disorder is related to a breakdown in the formation of the neural motor programs for speech early in development and that this breakdown is maintained throughout life. To date, no study has examined the potential neurodevelopmental signatures of the disorder across pediatric and adult populations. The current study aimed to fill this gap in our knowledge. We hypothesized that the developmental trajectory of cortical thickness in people who stutter would differ across the lifespan in the left pars opercularis relative to a group of control participants. We collected structural magnetic resonance images from 116 males (55 people who stutter) ranging in age from 6 to 48 years old. Differences in cortical thickness across ages and between patients and controls were investigated in 30 brain regions previously implicated in speech-motor control. An interaction between age and group was found for the left pars opercularis only. In people who stutter, the pars opercularis did not demonstrate the typical maturational pattern of gradual gray matter thinning with age across the lifespan that we observed in control participants. In contrast, the developmental trajectory of gray matter thickness in other regions of interest within the neural network for speech-motor control was similar for both groups. Our findings indicate that the developmental trajectory of gray matter in left pars opercularis is abnormal in people who stutter. PMID:25784869

  11. Gender Development in Indonesian Children, Adolescents, and Adults with Disorders of Sex Development.

    PubMed

    Ediati, Annastasia; Juniarto, Achmad Zulfa; Birnie, Erwin; Drop, Stenvert L S; Faradz, Sultana M H; Dessens, Arianne B

    2015-07-01

    In most Western countries, clinical management of disorders of sex development (DSD), including ambiguous genitalia, begins at diagnosis soon after birth. For many Indonesian patients born with ambiguous genitalia, limited medical treatment is available. Consequently, affected individuals are raised with ambiguous genitalia and atypical secondary sex characteristics. We investigated gender identity and gender role behavior in 118 Indonesian subjects (77 males, 41 females) with different types of DSD in comparison with 118 healthy controls matched for gender, age, and residential setting (rural, suburban, or urban). In Study 1, we report on methodological aspects of the investigation, including scale adaptation, pilot testing, and determining reliability and validity of measures. In Study 2, we report on gender development in 60 children (42 boys, 18 girls), 24 adolescents (15 boys, 9 girls), and 34 adults (19 men, 15 women) with DSD. The majority of participants with DSD never received any medical or surgical treatment prior to this study. We observed a gender change in all age groups, with the greatest incidence in adults. Among patients who changed, most changed from female to male, possessed a 46,XY karyotype, and had experienced significant masculinization during life. Gender identity confusion and cross-gender behavior was more frequently observed in children with DSD raised as girls compared to boys. Puberty and associated masculinization were related to gender problems in individuals with 46,XY DSD raised female. An integrated clinical and psychological follow-up on gender outcome is necessary prior to puberty and adulthood. PMID:25813609

  12. Dynamics of yolk steroid hormones during development in a reptile with temperature-dependent sex determination.

    PubMed

    Elf, P K; Lang, J W; Fivizzani, A J

    2002-06-01

    Many oviparous reptiles exhibit temperature-dependent sex determination (TSD); i.e., the temperature at which the egg is incubated determines the sex of the offspring. In TSD reptiles, yolk steroids not only may influence sex determination, but also may mediate hormonal effects on subsequent growth and behavior, as in some avian species. We investigated changes in the levels of estradiol (E(2)) and testosterone (T) during development in yolks of snapping turtle eggs, examined how incubation temperature affects hormone levels, and determined how hormones in turtle eggs are influenced by individual females (=clutch effects). Results indicate significant decreases in both hormones (>50% decline) by the end of the sex-determining period, when two-thirds of the development is complete. The declines in both E(2) and T were significantly affected by incubation temperature, but in different ways. Eggs incubated at female-producing temperatures maintained high levels, those incubated at male-producing temperatures had low E(2) values, and eggs incubated at pivotal temperatures had intermediate levels of E(2). At all three temperatures, T values underwent significant but approximately equal declines, except during the developmental stages just after the sex-determining period, when T levels decreased more at the male-producing temperature than at either of the other two temperatures. Initially, there were significant clutch effects in both hormones, but such differences, attributable to individual females, were maintained only for E(2) later in development. Here we report for the first time that incubation temperature significantly affects the hormonal environment of the developing embryo of a turtle with temperature-dependent sex determination. Based on this and related findings, we propose that yolk sex steroids influence sexual differentiation in these TSD species and play a role in sex determination at pivotal temperatures. PMID:12161199

  13. Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive).

    PubMed

    Nowacka-Woszuk, Joanna; Szczerbal, Izabela; Salamon, Sylwia; Kociucka, Beata; Jackowiak, Hanna; Prozorowska, Ewelina; Slaska, Brygida; Rozanska, Dorota; Orzelski, Maciej; Ochota, Malgorzata; Dzimira, Stanislaw; Lipiec, Magdalena; Nizanski, Wojciech; Switonski, Marek

    2014-12-10

    The molecular background of disorders of sex development (DSD) in cats is poorly recognized. In this study we present cytogenetic, molecular and histological analyses of four cats subjected for the analysis due to ambiguous external genitalia. Three cases, with rudimentary penises and an abnormal position of the urethral orifice, represented different types of hypospadias. The fourth case had a normal penis, a blind vulva and spermatogenetically active testes. Histological studies showed structures typical of testes, but spermatogenic activity was observed in two cats only. All the cats had a normal male chromosome complement (38,XY) and the Y-chromosome linked genes (SRY and ZFY) were also detected. Fluorescent in situ hybridization (FISH), with the use of the feline BAC probe harboring the SRY gene, excluded the possibility of chromosome translocation of the Y chromosome fragment carrying the SRY gene onto another chromosome. Sequencing of four candidate genes (SRY--sex determining region Y; AR--androgen receptor; SRD5A2--steroid-5-alfa reductase 2 and MAMLD1--mastermind-like domain containing (1) revealed one SNP in the SRY gene, one common polymorphism in exon 1 of the AR gene (tandem repeat of a tri-nucleotide motif--CAG), six polymorphisms (5 SNPs and 1 indel) in the SRD5A2 gene and one SNP in the MAMLD1 gene. Molecular studies of the candidate genes showed no association with the identified polymorphisms, thus molecular background of the studied DSD phenotypes remains unknown. PMID:25455261

  14. Development of sperm sexing and associated assisted reproductive technology for sex preselection of captive bottlenose dolphins (Tursiops truncatus).

    PubMed

    O'Brien, J K; Robeck, T R

    2006-01-01

    Research was conducted to develop sperm sorting and novel sperm preservation methodologies for sex predetermination in the bottlenose dolphin (Tursiops truncatus) using artificial insemination. In Study 1, the effect of seminal plasma (SP), sperm concentration and freezing rate (FR) on in vitro sperm quality of liquid-stored, non-sorted spermatozoa was examined. There was no effect (P > 0.05) of prefreeze SP addition on post-thaw quality (progressive motility, kinetic rating, sperm motility index (SMI), viability and acrosome integrity). Post-thaw motility parameters and viability were higher (P < 0.05) for slow FR than fast FR samples. In Study 2 investigating the effects of liquid storage and sorting on sperm quality, motility and SMI after sorting and centrifugation were lower (P < 0.05) than those of the initial ejaculate. The sort rate for enrichment (91 +/- 4% purity) of X- and Y-bearing spermatozoa was 3400 +/- 850 spermatozoa sex(-1) s(-1). In Study 3, compared with a modified straw method, directional freezing resulted in enhanced in vitro quality of sorted and non-sorted spermatozoa derived from liquid-stored semen (P < 0.05). In Study 4, endoscopic insemination of three dolphins with sorted, frozen-thawed X-bearing spermatozoa resulted in one conception and the birth of a female calf. High-purity sorting of dolphin spermatozoa, derived from liquid-stored semen, can be achieved with minimal loss of in vitro sperm quality and samples are functional in vivo. PMID:16554007

  15. Understanding and Combating the Dangers of Sex-Role Stereotyping to the Development of Creativity in Gifted Children.

    ERIC Educational Resources Information Center

    Grau, Phyllis

    1982-01-01

    The author offers three parables to examine the danger of sex-role stereotyping as it affects development of creativity in gifted children. It is pointed out that gifted children are likely to demonstrate some opposite sex personality and behavioral traits. Steps toward cross-sex identification are reviewed. (SW)

  16. Amniotic Fluid Deficiency and Congenital Abnormalities both Influence Fluctuating Asymmetry in Developing Limbs of Human Deceased Fetuses

    PubMed Central

    ten Broek, Clara Mariquita Antoinette; Bots, Jessica; Varela-Lasheras, Irma; Bugiani, Marianna; Galis, Frietson; Van Dongen, Stefan

    2013-01-01

    Fluctuating asymmetry (FA), as an indirect measure of developmental instability (DI), has been intensively studied for associations with stress and fitness. Patterns, however, appear heterogeneous and the underlying causes remain largely unknown. One aspect that has received relatively little attention in the literature is the consequence of direct mechanical effects on asymmetries. The crucial prerequisite for FA to reflect DI is that environmental conditions on both sides should be identical. This condition may be violated during early human development if amniotic fluid volume is deficient, as the resulting mechanical pressures may increase asymmetries. Indeed, we showed that limb bones of deceased human fetuses exhibited increased asymmetry, when there was not sufficient amniotic fluid (and, thus, space) in the uterine cavity. As amniotic fluid deficiency is known to cause substantial asymmetries and abnormal limb development, these subtle asymmetries are probably at least in part caused by the mechanical pressures. On the other hand, deficiencies in amniotic fluid volume are known to be associated with other congenital abnormalities that may disturb DI. More specifically, urogenital abnormalities can directly affect/reduce amniotic fluid volume. We disentangled the direct mechanical effects on FA from the indirect effects of urogenital abnormalities, the latter presumably representing DI. We discovered that both factors contributed significantly to the increase in FA. However, the direct mechanical effect of uterine pressure, albeit statistically significant, appeared less important than the effects of urogenital abnormalities, with an effect size only two-third as large. We, thus, conclude that correcting for the relevant direct factors allowed for a representative test of the association between DI and stress, and confirmed that fetuses form a suitable model system to increase our understanding in patterns of FA and symmetry development. PMID:24312362

  17. Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development.

    PubMed

    Ulbright, Thomas M; Young, Robert H

    2014-09-01

    Some patients with disorders of sex development (DSDs), previously known as intersex disorders, have abnormal gonadal development and an increased risk of germ cell tumors. Because of their relative rarity, however, many pathologists are unfamiliar with the morphological findings in the gonads of DSD patients and their clinical significance. This review concentrates on some of the most common DSDs where gonadal specimens may come to the attention of pathologists. It highlights the findings in gonadal dysgenesis, a DSD with a spectrum of clinical, pathologic, and molecular features but with the shared attributes of having both Y chromosomal material (even if in very limited amounts) in the gonad and also having mutations or deletions in genes necessary for normal gonadal development, mostly in those upstream of the SOX9 gene. This situation results in testicular tissue lacking normal Sertoli cells, which are now considered an essential element for the normal maturation of the primordial germ cells that migrate to the gonad from the embryonic yolk sac. Germ cells with delayed maturation mimic neoplastic germ cells, but there are both morphological and immunohistochemical differences. If the gonad having germ cells with delayed maturation also harbors the TSPY gene on the GBY locus of the Y chromosome, the cells may undergo neoplastic transformation and result in the distinctive gonadoblastoma, whose pathologic features are explored at length herein, including its potential for variant morphologies, such as a "dissecting" pattern. Another important DSD, the androgen insensitivity syndrome (AIS), is discussed at length, including the varied appearances of the testis and its distinctive lesions-hamartomas and Sertoli cell adenomas. The potential for germ cell neoplasia in the partial AIS is also discussed and contrasted with that of the complete AIS. A third major topic is ovotesticular DSD (true hermaphroditism). The clinical features and morphology of this condition are reviewed, including the arrangements of the tissue components in an ovotestis. Several other DSDs with distinctive gonadal findings are also considered, including Klinefelter syndrome, 5α-reductase deficiency, 17β-hydroxysteroid dehydrogenase deficiency, and female adrenogenital syndrome. PMID:25129544

  18. Sex differences in behavior and neural development and their role in adolescent vulnerability to substance use.

    PubMed

    Hammerslag, Lindsey R; Gulley, Joshua M

    2016-02-01

    Adolescents are especially prone to risky behavior and to the emergence of psychological disorders like substance abuse, anxiety and depression. However, there is a sex (or gender) difference in this vulnerability, with females being more prone to developing internalizing disorders and males being more likely to engage in risky behavior and drug use. While several researchers have proposed that there is a relationship between corticolimbic circuit development and adolescent vulnerability, the current proposed models do not take sex differences into account. In this review, we explore recent findings from both human and rodent studies of sex differences during adolescence. In particular, we consider epidemiological studies on the factors that contribute to the development of substance abuse and internalizing disorders, laboratory studies on reward-related and decision-making behavior, and neuroanatomical studies on the development of several structures in the corticolimbic circuit (i.e., prefrontal cortex [PFC], amygdala and striatum). We then integrate these recent findings into models of adolescent vulnerability to substance use that have previously not addressed sex differences. Lastly, we discuss methodological considerations for the interpretation and design of studies on sex (or gender) differences during adolescence while highlighting some opportunities for future investigations. PMID:25882721

  19. Development and Evaluation of Simulation-Problem-Based Learning for Sex Education.

    PubMed

    Kim, Miok; Shin, Minho

    2016-01-01

    Nurses often encounter clients with sexual problems. A sexual problem is complicated and affects the quality of the client's life, and proper care requires the nurse to understand a variety of sex-related issues. Therefore, effective sex education for nursing students is necessary to prepare them for potential challenges from the client's sexual problems. In this study, we developed a simulation-problem-based sex education program for nursing students. The program immerses the students in a sex-related clinical situation to train them with nursing assessment, intervention skills, patient safety, patient privacy, and communication skills. To evaluate the effect of the program on the student's sexual knowledge and attitude, we provided the experimental group with simulation-problem-based sex education program along with traditional lectures, whereas the control group received only lectures. As a result, there were statistically significant differences in the improvement of knowledge (P < .05) and attitude (P < .05) of the two groups. The results show that the designed program effectively promotes nursing students' sexual knowledge and sexual attitude, and the simulation-problem-based learning is a practical and systematic approach to the sex education of nursing students. PMID:26535768

  20. Character Development in Business Education: A Comparison of Coeducational and Single-Sex Environments

    ERIC Educational Resources Information Center

    Davis, James H.; Ruhe, John; Lee, Monle; Rajadhyaksha, Ujvala

    2011-01-01

    This study questions the widely held assumption, particularly in the United States, that coeducation is best. Previous research supports the development of single-sex education for both female and male students. This study examines how the learning climate of the coeducation environment seems to affect the character development of female business…

  1. How to Develop and Implement a Comprehensive Sex Education Program for the Deaf.

    ERIC Educational Resources Information Center

    Fitz-Gerald, Max; Fitz-Gerald, Della

    1983-01-01

    Developing a sex education program for deaf students begins with reviewing state guidelines on the topic, enlisting the support of policy makers and instructors, training teachers and parents, developing appropriate curriculum and materials, and evaluating and revising the program on a continuous basis. (CL)

  2. Character Development in Business Education: A Comparison of Coeducational and Single-Sex Environments

    ERIC Educational Resources Information Center

    Davis, James H.; Ruhe, John; Lee, Monle; Rajadhyaksha, Ujvala

    2011-01-01

    This study questions the widely held assumption, particularly in the United States, that coeducation is best. Previous research supports the development of single-sex education for both female and male students. This study examines how the learning climate of the coeducation environment seems to affect the character development of female business…

  3. Sex Differences in Attitudes Toward New Energy Resource Developments.

    ERIC Educational Resources Information Center

    Stout-Wiegand, Nancy; Trent, Roger B.

    A survey to examine male and female attitudes toward locally proposed energy developments (e.g., coal production, refineries) in an Appalachian community is reported. Four hundred and eighty-five residents were questioned on whether they favor the proposed developments; whether they were currently employed in an energy-related occupation; and…

  4. Genetic mapping of the autosomal region involved in XX sex-reversal and horn development in goats.

    PubMed

    Vaiman, D; Koutita, O; Oustry, A; Elsen, J M; Manfredi, E; Fellous, M; Cribiu, E P

    1996-02-01

    Contrary to other genetic disorders, the genetic study of sex determination anomalies in humans stumbles over the difficulty in observing large pedigrees. In goats, abnormalities in sex determination are intimately linked to a dominant Mendelian gene coding for the "polled" (hornless) character, which could render this species an interesting animal model for the rare human cases of SRY-negative XX males. In this report, we describe genetic linkage between the polled/intersex synchome (PIS) and four microsatellite markers of the distal region of goat Chromosome 1 (CHI1), quite distinct from the bovine "polled" region. According to comparative mapping data, no sex-determining gene has been described so far in homologous regions in the human. This genetic localization constitutes a first step towards identifying a new autosomal sex-determining gene in mammals. PMID:8835530

  5. Sex-Dependent Expression of Caveolin 1 in Response to Sex Steroid Hormones Is Closely Associated with Development of Obesity in Rats

    PubMed Central

    Mukherjee, Rajib; Kim, Sang Woo; Choi, Myung Sook; Yun, Jong Won

    2014-01-01

    Caveolin-1 (CAV1) is a conserved group of structural membrane proteins that form special cholesterol and sphingolipid-rich compartments, especially in adipocytes. Recently, it has been reported that CAV1 is an important target protein in sex hormone-dependent regulation of various metabolic pathways, particularly in cancer and diabetes. To clarify distinct roles of CAV1 in sex-dependent obesity development, we investigated the effects of high fat diet (HFD) and sex steroid hormones on CAV1 expression in adipose tissues of male and female rats. Results of animal experiments revealed that estrogen (17-?-estradiol, E2) and androgen (dihydrotestosterone, DHT) had opposite effects on body weight gain as well as on the regulation of CAV1, hormone sensitive lipase (HSL) and uncoupling protein 1 (UCP1) in adipose tissues. Furthermore, sex hormone receptors and aromatase were differentially expressed in a sex-dependent manner in response to E2 and DHT treatments. In vivo data were confirmed using 3T3-L1 and HIB1B cell lines, where Cav1 knock down stimulated lipogenesis but suppressed sex hormone receptor signaling proteins. Most importantly, co-immunoprecipitation enabled the identification of previously unrecognized CAV1-interacting mitochondrial or lipid oxidative pathway proteins in adipose tissues. Taken together, current data showed that CAV1 may play important preventive role in the development of obesity, with more prominent effects in females, and proved to be an important target protein for the hormonal regulation of adipose tissue metabolism by manipulating sex hormone receptors and mitochondrial oxidative pathways. Therefore, we can report, for the first time, the molecular mechanism underlying the effects of sex steroid hormones in the sex-dimorphic regulation of CAV1. PMID:24608114

  6. Gender Development Research in Sex Roles: Historical Trends and Future Directions

    PubMed Central

    Miller, Cindy Faith; Ruble, Diane N.; Martin, Carol Lynn; Fabes, Richard A.

    2011-01-01

    The late 1960s through the 1970s marked an important turning point in the field of gender research, including theory and research in gender development. The establishment of Sex Roles in 1975 as a forum for this research represented an important milestone in the field. In this article, we celebrate the 35th anniversary of Sex Roles and, in particular, its contributions to the field of research on children’s and adolescents’ gender development. We examine the trends in research on gender development published in Sex Roles since its inception and use this analysis as a vehicle for exploring how the field has grown and evolved over the past few decades. We begin with a brief review of the history of this field of research since 1975. Then, we present a descriptive assessment of articles published on gender development in Sex Roles over time, and link this assessment to general trends that have occurred in the study of gender development over the past 35 years. We conclude with a discussion of future directions for the field of gender development. In particular, we highlight areas in which the journal could play a role in promoting more diversity in topics, methods, and ages employed in gender development research. PMID:21747580

  7. Disruption of Ah Receptor Signaling during Mouse Development Leads to Abnormal Cardiac Structure and Function in the Adult

    PubMed Central

    Carreira, Vinicius S.; Fan, Yunxia; Kurita, Hisaka; Wang, Qin; Ko, Chia-I; Naticchioni, Mindi; Jiang, Min; Koch, Sheryl; Zhang, Xiang; Biesiada, Jacek; Medvedovic, Mario; Xia, Ying; Rubinstein, Jack; Puga, Alvaro

    2015-01-01

    The Developmental Origins of Health and Disease (DOHaD) Theory proposes that the environment encountered during fetal life and infancy permanently shapes tissue physiology and homeostasis such that damage resulting from maternal stress, poor nutrition or exposure to environmental agents may be at the heart of adult onset disease. Interference with endogenous developmental functions of the aryl hydrocarbon receptor (AHR), either by gene ablation or by exposure in utero to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), a potent AHR ligand, causes structural, molecular and functional cardiac abnormalities and altered heart physiology in mouse embryos. To test if embryonic effects progress into an adult phenotype, we investigated whether Ahr ablation or TCDD exposure in utero resulted in cardiac abnormalities in adult mice long after removal of the agent. Ten-months old adult Ahr-/- and in utero TCDD-exposed Ahr+/+ mice showed sexually dimorphic abnormal cardiovascular phenotypes characterized by echocardiographic findings of hypertrophy, ventricular dilation and increased heart weight, resting heart rate and systolic and mean blood pressure, and decreased exercise tolerance. Underlying these effects, genes in signaling networks related to cardiac hypertrophy and mitochondrial function were differentially expressed. Cardiac dysfunction in mouse embryos resulting from AHR signaling disruption seems to progress into abnormal cardiac structure and function that predispose adults to cardiac disease, but while embryonic dysfunction is equally robust in males and females, the adult abnormalities are more prevalent in females, with the highest severity in Ahr-/- females. The findings reported here underscore the conclusion that AHR signaling in the developing heart is one potential target of environmental factors associated with cardiovascular disease. PMID:26555816

  8. Sex Role Development and Teenage Fertility-Related Behavior

    ERIC Educational Resources Information Center

    Cvetkovich, George; And Others

    1978-01-01

    Presents some data bearing on the relationship between the psychological development or maturity of adolescent women and their sexual behavior and contraceptive use. Data were collected through the American Public Health Association in 1975 from 369 females and 325 males. (Author/RK)

  9. A Developing Aptitude Model--Sex Equity. Summary Report.

    ERIC Educational Resources Information Center

    Fox Valley Technical Coll., Appleton, WI.

    During a 2-year period, Fox Valley Technical College (FVTC) in Wisconsin developed a "New Directions" project, funded by the Job Training Partnership Act (JTPA), that successfully identified, enrolled, and graduated 30 women in a training program for nontraditional occupations. Project activities included scheduling morning and evening classes to…

  10. Sex differences in fuel use and metabolism during development in fasting juvenile northern elephant seals.

    PubMed

    Kelso, Elizabeth J; Champagne, Cory D; Tift, Michael S; Houser, Dorian S; Crocker, Daniel E

    2012-08-01

    Many polygynous, capital breeders exhibit sexual dimorphism with respect to body size and composition. Sexual dimorphism is often facilitated by sex differences in foraging behavior, growth rates and patterns of nutrient deposition during development. In species that undergo extended fasts during development, metabolic strategies for fuel use have the potential to influence future reproductive success by directly impacting somatic growth and acquisition of traits required for successful breeding. We investigated sexual dimorphism associated with metabolic strategies for fasting in developing northern elephant seals. Thirty-one juvenile seals of both sexes were sampled over extended fasts during annual autumn haul-outs. Field metabolic rate (FMR) and the contribution of protein catabolism to energy expenditure were estimated from changes in mass and body composition over 23±5 days of fasting (mean ± s.d.). Protein catabolism was assessed directly in a subset of animals based on urea flux at the beginning and end of the fast. Regulatory hormones and blood metabolites measured included growth hormone, cortisol, thyroxine, triiodothyronine, insulin, glucagon, testosterone, estradiol, glucose, urea and ?-hydroxybutyrate. Males exhibited higher rates of energy expenditure during the fast but spared body protein stores more effectively than females. Rates of protein catabolism and energy expenditure were significantly impacted by hormone levels, which varied between the sexes. These data suggest that sex differences in fuel metabolism and energy expenditure during fasting arise early in juvenile development and may play an important role in the development of adult traits associated with reproductive success. PMID:22786640

  11. Pathogenesis of germ cell neoplasia in testicular dysgenesis and disorders of sex development.

    PubMed

    Jørgensen, Anne; Lindhardt Johansen, Marie; Juul, Anders; Skakkebaek, Niels E; Main, Katharina M; Rajpert-De Meyts, Ewa

    2015-09-01

    Development of human gonads is a sex-dimorphic process which evolved to produce sex-specific types of germ cells. The process of gonadal sex differentiation is directed by the action of the somatic cells and ultimately results in germ cells differentiating to become functional gametes through spermatogenesis or oogenesis. This tightly controlled process depends on the proper sequential expression of many genes and signalling pathways. Disturbances of this process can be manifested as a large spectrum of disorders, ranging from severe disorders of sex development (DSD) to - in the genetic male - mild reproductive problems within the testicular dysgenesis syndrome (TDS), with large overlap between the syndromes. These disorders carry an increased but variable risk of germ cell neoplasia. In this review, we discuss the pathogenesis of germ cell neoplasia associated with gonadal dysgenesis, especially in individuals with 46,XY DSD. We summarise knowledge concerning development and sex differentiation of human gonads, with focus on sex-dimorphic steps of germ cell maturation, including meiosis. We also briefly outline the histopathology of germ cell neoplasia in situ (GCNIS) and gonadoblastoma (GDB), which are essentially the same precursor lesion but with different morphological structure dependent upon the masculinisation of the somatic niche. To assess the risk of germ cell neoplasia in different types of DSD, we have performed a PubMed search and provide here a synthesis of the evidence from studies published since 2006. We present a model for pathogenesis of GCNIS/GDB in TDS/DSD, with the risk of malignancy determined by the presence of the testis-inducing Y chromosome and the degree of masculinisation. The associations between phenotype and the risk of neoplasia are likely further modulated in each individual by the constellation of the gene polymorphisms and environmental factors. PMID:26410164

  12. Development of a sintering methodology through abnormal glow discharge for manufacturing metal matrix composites

    NASA Astrophysics Data System (ADS)

    Pérez, S.; Pineda, Y.; Sarmiento, A.; López, A.

    2016-02-01

    In this study, a sintering methodology is presented by using abnormal glow discharge to metal matrix composites (MMC), consisting of 316 steel, reinforced with titanium carbide (TiC). The wear behaviour of these compounds was evaluated according to the standard ASTM G 99 in a tribometer pin-on-disk. The effect of the percentage of reinforcement (3, 6, and 9%), with 40 minutes of mixing in the planetary mill is analysed, using compaction pressure of 700MPa and sintering temperature of 1,100°C±5°C, gaseous atmosphere of H2 - N2, and sintering time of 30 minutes. As a result of the research, it shows that the best behaviour against wear is obtained when the MMC contains 6% TiC. Under this parameter the lowest percentage of pores and the lowest coefficient of friction are achieved, ensuring that the incorporation of ceramic particles (TiC) in 316 austenitic steel matrix significantly improves the wear resistance. Also, it is shown that it is possible to sinter such materials using the abnormal glow discharge, being a novel and effective method in which the working temperature is reached in a short time.

  13. Environmentally relevant concentrations of ammonium perchlorate inhibit thyroid function and alter sex ratios in developing Xenopus laevis.

    PubMed

    Goleman, Wanda L; Carr, James A; Anderson, Todd A

    2002-03-01

    Embryos and larvae of the South African frog Xenopus laevis were exposed to ammonium perchlorate (AP) or control medium for 70 d. The dosage levels (59 ppb, 14,140 ppb) bracketed a range of perchlorate concentrations measured in surface waters at the Longhorn Army Ammunition Plant (LHAAP) in Karnack, Texas, USA. The experiment also included a 28-d nontreatment recovery period to assess the reversibility of AP effects. There were no significant effects of AP on mortality or hatching success. There were no effects of AP on developmental abnormalities such as bent/asymmetric tails or edema. Ammonium perchlorate inhibited forelimb emergence, the percentage of animals completing tail resorption, and hindlimb development during the 70-d exposure period. Only the upper AP concentration reduced whole-body thyroxine content, whereas both concentrations caused significant hypertrophy of the thyroid follicular epithelium. Both concentrations of AP caused a skewed sex ratio, significantly reducing the percentage of males at metamorphosis. The effects of AP on metamorphosis and thyroid function were reversed during the 28-d nontreatment recovery period. We conclude that AP inhibits thyroid activity and alters gonadal differentiation in developing X. laevis. These effects were observed at concentrations at or below concentrations reported in surface waters contaminated with ammonium perchlorate, suggesting that this contaminant may pose a threat to normal development and growth in natural amphibian populations. PMID:11878472

  14. Effects of Sex Chromosome Aneuploidies on Brain Development: Evidence From Neuroimaging Studies

    PubMed Central

    Lenroot, Rhoshel K.; Lee, Nancy Raitano; Giedd, Jay N.

    2010-01-01

    Variation in the number of sex chromosomes is a relatively common genetic condition, affecting as many as 1/400 individuals. The sex chromosome aneuploidies (SCAs) are associated with characteristic behavioral and cognitive phenotypes, although the degree to which specific individuals are affected can fall within a wide range. Understanding the effects of different dosages of sex chromosome genes on brain development may help to understand the basis for functional differences in affected individuals. It may also be informative regarding how sex chromosomes contribute to typical sexual differentiation. Studies of 47,XXY males make up the bulk of the current literature of neuroimaging studies in individuals with supernumerary sex chromosomes, with a few small studies or case reports of the other SCAs. Findings in 47,XXY males typically include decreased gray and white matter volumes, with most pronounced effects in the frontal and temporal lobes. Functional studies have shown evidence of decreased lateralization. Although the hypogonadism typically found in 47,XXY males may contribute to the decreased brain volume, the observation that 47,XXX females also show decreased brain volume in the presence of normal pubertal maturation suggests a possible direct dosage effect of X chromosome genes. Additional X chromosomes, such as in 49,XXXXY males, are associated with more markedly decreased brain volume and increased incidence of white matter hyperintensities. The limited data regarding effects of having two Y chromosomes (47,XYY) do not find significant differences in brain volume, although there are some reports of increased head size. PMID:20014372

  15. Effects of sex chromosome aneuploidies on brain development: evidence from neuroimaging studies.

    PubMed

    Lenroot, Rhoshel K; Lee, Nancy Raitano; Giedd, Jay N

    2009-01-01

    Variation in the number of sex chromosomes is a relatively common genetic condition, affecting as many as 1/400 individuals. The sex chromosome aneuploidies (SCAs) are associated with characteristic behavioral and cognitive phenotypes, although the degree to which specific individuals are affected can fall within a wide range. Understanding the effects of different dosages of sex chromosome genes on brain development may help to understand the basis for functional differences in affected individuals. It may also be informative regarding how sex chromosomes contribute to typical sexual differentiation. Studies of 47,XXY males make up the bulk of the current literature of neuroimaging studies in individuals with supernumerary sex chromosomes, with a few small studies or case reports of the other SCAs. Findings in 47,XXY males typically include decreased gray and white matter volumes, with most pronounced effects in the frontal and temporal lobes. Functional studies have shown evidence of decreased lateralization. Although the hypogonadism typically found in 47,XXY males may contribute to the decreased brain volume, the observation that 47,XXX females also show decreased brain volume in the presence of normal pubertal maturation suggests a possible direct dosage effect of X chromosome genes. Additional X chromosomes, such as in 49,XXXXY males, are associated with more markedly decreased brain volume and increased incidence of white matter hyperintensities. The limited data regarding effects of having two Y chromosomes (47,XYY) do not find significant differences in brain volume, although there are some reports of increased head size. PMID:20014372

  16. Approach to the Infant with a Suspected Disorder of Sex Development.

    PubMed

    Wherrett, Diane K

    2015-08-01

    A newborn with genital ambiguity requires careful diagnostic evaluation to identify the underlying etiology in an efficient manner and assign gender without lengthy delay. The infant's family needs comprehensive psychosocial support. Such infants should be referred to a multidisciplinary team with expertise in disorders of sex development. PMID:26210628

  17. Multicultural Sex-Role Development in Young Children: Intervention Strategies. Final Report.

    ERIC Educational Resources Information Center

    Busch, Judith W.; Schau, Candace Garrett

    This is the final report of a project that studied sex role stereotyping behavior among children in four preschools in Albuquerque, New Mexico, and attempted to intervene in the development of such stereotyping. The three phases of the study, which included contacting the schools, data collection and analysis, and information dissemination, are…

  18. Sex Variations in Youth Anxiety Symptoms: Effects of Pubertal Development and Gender Role Orientation

    ERIC Educational Resources Information Center

    Carter, Rona; Silverman, Wendy K.; Jaccard, James

    2011-01-01

    This study evaluated whether pubertal development and gender role orientation (i.e., masculinity and femininity) can partially explain sex variations in youth anxiety symptoms among clinic-referred anxious youth (N = 175; ages 9-13 years; 74% Hispanic; 48% female). Using youth and parent ratings of youth anxiety symptoms, structural equation…

  19. Family Life and Human Development (Sex Education): The Prince George's County Public Schools Experience.

    ERIC Educational Resources Information Center

    Schaffer, Michael J.

    1981-01-01

    The Prince George's County schools' sex education program for grades K-12 was developed and implemented in the late 1960s and has three focus areas: family life and interpersonal relationships; the physiological and personality changes during puberty; and advanced physiology and psychology of human sexual behavior. The program augments what the…

  20. An Examination of Three Theories of Sex Role Development in a Sample of Adoptive Parents.

    ERIC Educational Resources Information Center

    Travis, Cheryl; Francis, Becky

    The purpose of the present study was to assess the explanatory powers of three theories of sex role development: secondary reinforcement through parental nurturance; instrumental conditioning by dating partners; and social learning through observations of outcomes for mothers. Subjects' responses to questionnaire items were utilized to measure the…

  1. Sex Variations in Youth Anxiety Symptoms: Effects of Pubertal Development and Gender Role Orientation

    ERIC Educational Resources Information Center

    Carter, Rona; Silverman, Wendy K.; Jaccard, James

    2011-01-01

    This study evaluated whether pubertal development and gender role orientation (i.e., masculinity and femininity) can partially explain sex variations in youth anxiety symptoms among clinic-referred anxious youth (N = 175; ages 9-13 years; 74% Hispanic; 48% female). Using youth and parent ratings of youth anxiety symptoms, structural equation…

  2. Developing Software to “Track and Catch” Missed Follow-up of Abnormal Test Results in a Complex Sociotechnical Environment

    PubMed Central

    Smith, M.; Murphy, D.; Laxmisan, A.; Sittig, D.; Reis, B.; Esquivel, A.; Singh, H.

    2013-01-01

    Summary Background Abnormal test results do not always receive timely follow-up, even when providers are notified through electronic health record (EHR)-based alerts. High workload, alert fatigue, and other demands on attention disrupt a provider’s prospective memory for tasks required to initiate follow-up. Thus, EHR-based tracking and reminding functionalities are needed to improve follow-up. Objectives The purpose of this study was to develop a decision-support software prototype enabling individual and system-wide tracking of abnormal test result alerts lacking follow-up, and to conduct formative evaluations, including usability testing. Methods We developed a working prototype software system, the Alert Watch And Response Engine (AWARE), to detect abnormal test result alerts lacking documented follow-up, and to present context-specific reminders to providers. Development and testing took place within the VA’s EHR and focused on four cancer-related abnormal test results. Design concepts emphasized mitigating the effects of high workload and alert fatigue while being minimally intrusive. We conducted a multifaceted formative evaluation of the software, addressing fit within the larger socio-technical system. Evaluations included usability testing with the prototype and interview questions about organizational and workflow factors. Participants included 23 physicians, 9 clinical information technology specialists, and 8 quality/safety managers. Results Evaluation results indicated that our software prototype fit within the technical environment and clinical workflow, and physicians were able to use it successfully. Quality/safety managers reported that the tool would be useful in future quality assurance activities to detect patients who lack documented follow-up. Additionally, we successfully installed the software on the local facility’s “test” EHR system, thus demonstrating technical compatibility. Conclusion To address the factors involved in missed test results, we developed a software prototype to account for technical, usability, organizational, and workflow needs. Our evaluation has shown the feasibility of the prototype as a means of facilitating better follow-up for cancer-related abnormal test results. PMID:24155789

  3. Development and evaluation of deep intra-uterine artificial insemination using cryopreserved sexed spermatozoa in bottlenose dolphins (Tursiops truncatus).

    PubMed

    Robeck, Todd R; Montano, G A; Steinman, K J; Smolensky, P; Sweeney, J; Osborn, S; O'Brien, J K

    2013-06-01

    Since its development in bottlenose dolphins, widespread application of AI with sex-selected, frozen-thawed (FT) spermatozoa has been limited by the significant expense of the sorting process. Reducing the total number of progressively motile sperm (PMS) required for an AI would reduce the sorting cost. As such, this research compared the efficacy of small-dose deep uterine AI with sexed FT spermatozoa (SEXED-SMALL; ~50×10(6)PMS, n=20), to a moderate dose deposited mid-horn (SEXED-STD, ~200×10(6)PMS; n=20), and a large dose of FT non-sexed spermatozoa deposited in the uterine body (NONSEXED-LARGE, 660×10(6)PMS, n=9). Ten of the 11 calves resulting from use of sexed spermatozoa were of the predetermined sex. Similar rates of conception (NONSEXED-LARGE: 78%, SEXED-STD: 60%, SEXED-SMALL: 57%) and total pregnancy loss (TPL: NONSEXED-LARGE: 28.6%; SEXED-STD: 41.0%; SEXED-SMALL: 63.6%) were observed across groups, but early pregnancy loss (EPL, SEXED-SMALL (54.5%) compared to NONSEXED-LARGE (0%). Animals experiencing EPL were older (31.3 y, P=0.007) than those that calved (21.4y) or did not conceive (19.4y). After excluding females ≥25y, SEXED-SMALL (15.4%) had a tendency for having reduced calving rates compared to NONSEXED-LARGE (50.0%; P=0.08), while SEXED-STD did not differ (40.0%, 4/10; P=0.341). Current findings indicate that acceptable conception and calving rates using sexed FT spermatozoa are achieved after mid-horn deposition of 200×10(6) PMS, when used with females aged less than 25 y. PMID:23660366

  4. IVF affects embryonic development in a sex-biased manner in mice.

    PubMed

    Tan, Kun; Wang, Zhuqing; Zhang, Zhenni; An, Lei; Tian, Jianhui

    2016-04-01

    Increasing evidence indicates that IVF (IVF includes in vitro fertilization and culture) embryos and babies are associated with a series of health complications, and some of them show sex-dimorphic patterns. Therefore, we hypothesized that IVF procedures have sex-biased or even sex-specific effects on embryonic and fetal development. Here, we demonstrate that IVF-induced side effects show significant sexual dimorphic patterns from the pre-implantation to the prenatal stage. During the pre-implantation stage, female IVF embryos appear to be more vulnerable to IVF-induced effects, including an increased percentage of apoptosis (7.22±1.94 vs 0.71±0.76, P<0.01), and dysregulated expression of representative sex-dimorphic genes (Xist, Hprt, Pgk1 and Hsp70). During the mid-gestation stage, IVF males had a higher survival rate than IVF females at E13.5 (male:female=1.33:1), accompanied with a female-biased pregnancy loss. In addition, while both IVF males and females had reduced placental vasculogenesis/angiogenesis, the compensatory placental overgrowth was more evident in IVF males. During the late-gestation period, IVF fetuses had a higher sex ratio (male:female=1.48:1) at E19.5, and both male and female IVF placentas showed overgrowth. After birth, IVF males grew faster than their in vivo (IVO) counterparts, while IVF females showed a similar growth pattern with IVO females. The present study provides a new insight into understanding IVF-induced health complications during embryonic and fetal development. By understanding and minimizing these sex-biased effects of the IVF process, the health of IVF-conceived babies may be improved in the future. PMID:26825929

  5. Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes.

    PubMed

    Li, Wen; Wang, Xianming; Fan, Wenxia; Zhao, Ping; Chan, Yau-Chi; Chen, Shen; Zhang, Shiqiang; Guo, Xiangpeng; Zhang, Ya; Li, Yanhua; Cai, Jinglei; Qin, Dajiang; Li, Xingyan; Yang, Jiayin; Peng, Tianran; Zychlinski, Daniela; Hoffmann, Dirk; Zhang, Ruosi; Deng, Kang; Ng, Kwong-Man; Menten, Bjorn; Zhong, Mei; Wu, Jiayan; Li, Zhiyuan; Chen, Yonglong; Schambach, Axel; Tse, Hung-Fat; Pei, Duanqing; Esteban, Miguel A

    2012-01-01

    Many human diseases share a developmental origin that manifests during childhood or maturity. Aneuploid syndromes are caused by supernumerary or reduced number of chromosomes and represent an extreme example of developmental disease, as they have devastating consequences before and after birth. Investigating how alterations in gene dosage drive these conditions is relevant because it might help treat some clinical aspects. It may also provide explanations as to how quantitative differences in gene expression determine phenotypic diversity and disease susceptibility among natural populations. Here, we aimed to produce induced pluripotent stem cell (iPSC) lines that can be used to improve our understanding of aneuploid syndromes. We have generated iPSCs from monosomy X [Turner syndrome (TS)], trisomy 8 (Warkany syndrome 2), trisomy 13 (Patau syndrome) and partial trisomy 11;22 (Emanuel syndrome), using either skin fibroblasts from affected individuals or amniocytes from antenatal diagnostic tests. These cell lines stably maintain the karyotype of the donors and behave like embryonic stem cells in all tested assays. TS iPSCs were used for further studies including global gene expression analysis and tissue-specific directed differentiation. Multiple clones displayed lower levels of the pseudoautosomal genes ASMTL and PPP2R3B than the controls. Moreover, they could be transformed into neural-like, hepatocyte-like and heart-like cells, but displayed insufficient up-regulation of the pseudoautosomal placental gene CSF2RA during embryoid body formation. These data support that abnormal organogenesis and early lethality in TS are not caused by a tissue-specific differentiation blockade, but rather involves other abnormalities including impaired placentation. PMID:21949351

  6. A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication.

    PubMed

    Lee, Gyung Min; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won

    2014-06-01

    The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has several important functions during testis development and differentiation in males, and overexpression of SOX9 leads to the male development of 46,XX gonads in the absence of SRY. In addition, SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans. Here, we report a 4.2-year-old SRY-negative 46,XX boy with complete sex reversal caused by SOX9 duplication for the first time in Korea. He showed normal external and internal male genitalia except for small testes. Fluorescence in situ hybridization and polymerase chain reaction (PCR) analyses failed to detect the presence of SRY, and SOX9 intragenic mutation was not identified by direct sequencing analysis. Therefore, we performed real-time PCR analyses with specific primer pairs, and duplication of the SOX9 gene was revealed. Although SRY-negative 46,XX testicular DSD is a rare condition, an effort to make an accurate diagnosis is important for the provision of proper genetic counseling and for guiding patients in their long-term management. PMID:25077096

  7. Development and validation of HIV-related dyadic measures for men who have sex with men.

    PubMed

    Salazar, Laura F; Stephenson, Robert B; Sullivan, Patrick S; Tarver, Russell

    2013-01-01

    The purpose of this study was to develop and assess the psychometric properties of several scales that measure dyadic constructs derived from an integrated model of interdependence theory and communal coping perspectives. The scales are specific to HIV risk and men who have sex with men who are in an intimate relationship. These scales are newly developed measures of perceived severity of HIV, preferences for sexual health outcomes, outcome and couple efficacy to avoid HIV, and communal coping strategies. Scale items were created based on theoretical definitions and results from six focus groups with men who have sex with men. Face and content validity of the scales were assessed with a panel of six experts in the field of HIV prevention. Revised scales were subsequently administered to an online sample of 638 men who have sex with men, who indicated being in a relationship for at least three months. All scales showed adequate reliability, and evidence for construct validity was obtained for all scales, except for perceived severity of HIV. The results indicate that these dyadic scales are psychometrically sound and can be used in future HIV prevention research and practice with men who have sex with men couples. PMID:22206480

  8. The human sex ratio from conception to birth

    PubMed Central

    Orzack, Steven Hecht; Stubblefield, J. William; Akmaev, Viatcheslav R.; Colls, Pere; Munné, Santiago; Scholl, Thomas; Steinsaltz, David; Zuckerman, James E.

    2015-01-01

    We describe the trajectory of the human sex ratio from conception to birth by analyzing data from (i) 3- to 6-d-old embryos, (ii) induced abortions, (iii) chorionic villus sampling, (iv) amniocentesis, and (v) fetal deaths and live births. Our dataset is the most comprehensive and largest ever assembled to estimate the sex ratio at conception and the sex ratio trajectory and is the first, to our knowledge, to include all of these types of data. Our estimate of the sex ratio at conception is 0.5 (proportion male), which contradicts the common claim that the sex ratio at conception is male-biased. The sex ratio among abnormal embryos is male-biased, and the sex ratio among normal embryos is female-biased. These biases are associated with the abnormal/normal state of the sex chromosomes and of chromosomes 15 and 17. The sex ratio may decrease in the first week or so after conception (due to excess male mortality); it then increases for at least 10–15 wk (due to excess female mortality), levels off after ∼20 wk, and declines slowly from 28 to 35 wk (due to excess male mortality). Total female mortality during pregnancy exceeds total male mortality. The unbiased sex ratio at conception, the increase in the sex ratio during the first trimester, and total mortality during pregnancy being greater for females are fundamental insights into early human development. PMID:25825766

  9. Development of a Sex Education Programme for 12-Year-Old to 14-Year-Old Turkish Adolescents

    ERIC Educational Resources Information Center

    Cok, Figen; Gray, Lizbeth Ann

    2007-01-01

    Previous research has documented a need for the development of a sex education programme in Turkish schools in terms of adolescence readiness and the presence of misconceptions regarding critical aspects of sexual issues. Currently no school-based sex education is available for Turkish adolescents. This paper presents the development of a…

  10. Exploring the Development of Existing Sex Education Programmes for People with Intellectual Disabilities: An Intervention Mapping Approach

    ERIC Educational Resources Information Center

    Schaafsma, Dilana; Stoffelen, Joke M. T.; Kok, Gerjo; Curfs, Leopold M. G.

    2013-01-01

    Background: People with intellectual disabilities face barriers that affect their sexual health. Sex education programmes have been developed by professionals working in the field of intellectual disabilities with the aim to overcome these barriers. The aim of this study was to explore the development of these programmes. Methods: Sex education…

  11. Exploring the Development of Existing Sex Education Programmes for People with Intellectual Disabilities: An Intervention Mapping Approach

    ERIC Educational Resources Information Center

    Schaafsma, Dilana; Stoffelen, Joke M. T.; Kok, Gerjo; Curfs, Leopold M. G.

    2013-01-01

    Background: People with intellectual disabilities face barriers that affect their sexual health. Sex education programmes have been developed by professionals working in the field of intellectual disabilities with the aim to overcome these barriers. The aim of this study was to explore the development of these programmes. Methods: Sex education…

  12. Abnormalities of fuel utilization as predisposing to the development of obesity in humans.

    PubMed

    Schutz, Y

    1995-09-01

    A number of recent investigations in man have demonstrated that a low ratio of fat to carbohydrate oxidation (i.e., a high respiratory quotient or RQ) was associated with actual and/or subsequent body weight gain in obese non-diabetic Pima Indians, in American men of various ages and in post-obese European women investigated shortly after the cessation of a hypocaloric diet. It is well known that numerous exogenous and endogenous factors influence the RQ at rest such as: the level of feeding (positive vs. negative energy balance), the composition of food eaten (high vs. low carbohydrate), the size of the glycogen stores, the amount of adipose tissue as well as genetic factors. It should be stressed that some nutritional situations can co-exist during which a low ratio of fat to carbohydrate is observed (i.e., a high RQ) despite weight loss. Furthermore, in most studies mentioned above, the low fat to carbohydrate oxidation ratio explains less than 10% of the variance in weight gain, suggesting that numerous additional factors also play a substantial role in the onset of weight gain. It is concluded that: 1) a low fat to carbohydrate oxidation ratio or an abnormal fat oxidation is difficult to define quantitatively since it is largely influenced by the energy level and the composition of the diet.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8581773

  13. Abnormal gene expression in cerebellum of Npc1-/- mice during postnatal development

    PubMed Central

    Liao, Guanghong; Wen, Zhining; Irizarry, Kristopher; Huang, Ying; Mitsouras, Katherine; Darmani, Mariam; Leon, Terry; Shi, Leming; Bi, Xiaoning

    2010-01-01

    Niemann-Pick Type C disease is an autosomal recessive neurodegenerative disorder with abnormal lipid storage as the major cellular pathologic hallmark. Genetic analyses have identified mutations in NPC1 gene in the great majority of cases, while mutations in NPC2 account for the remainders. Yet, little is known regarding the cellular mechanisms responsible for NPC pathogenesis, especially for neurodegeneration, which is the usual cause of death. To identify critical steps that could account for the pathological manifestations of the disease in one of the most affected brain structures, we performed global gene expression analysis in the cerebellum from three-week old Npc1+/+ and Npc1-/- mice with two different microarray platforms (Agilent and Illumina). Differentially-expressed genes identified by both microarray platforms were then subjected to KEGG pathway analysis. Expression of genes in six pathways was significantly altered in Npc1-/- mice; functionally, these signaling pathways belong to the following three categories: 1) steroid and terpenoid biosynthesis, 2) immune response, and 3) cell adhesion/motility. In addition, the expression of several proteins involved in lipid transport was significantly altered in Npc1-/- mice. Our results provide novel molecular insight regarding the mechanisms of pathogenesis in NPC disease and reveal potential new therapeutic targets. PMID:20153740

  14. The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.

    PubMed

    Satterthwaite, Theodore D; Connolly, John J; Ruparel, Kosha; Calkins, Monica E; Jackson, Chad; Elliott, Mark A; Roalf, David R; Ryan Hopsona, Karthik Prabhakaran; Behr, Meckenzie; Qiu, Haijun; Mentch, Frank D; Chiavacci, Rosetta; Sleiman, Patrick M A; Gur, Ruben C; Hakonarson, Hakon; Gur, Raquel E

    2016-01-01

    The Philadelphia Neurodevelopmental Cohort (PNC) is a large-scale study of child development that combines neuroimaging, diverse clinical and cognitive phenotypes, and genomics. Data from this rich resource is now publicly available through the Database of Genotypes and Phenotypes (dbGaP). Here we focus on the data from the PNC that is available through dbGaP and describe how users can access this data, which is evolving to be a significant resource for the broader neuroscience community for studies of normal and abnormal neurodevelopment. PMID:25840117

  15. Recapitulation of normal and abnormal BioBreeding rat T cell development in adult thymus organ culture.

    PubMed

    Whalen, B J; Weiser, P; Marounek, J; Rossini, A A; Mordes, J P; Greiner, D L

    1999-04-01

    Congenitally lymphopenic diabetes-prone (DP) BioBreeding (BB) rats develop spontaneous T cell-dependent autoimmunity. Coisogenic diabetes-resistant (DR) BB rats are not lymphopenic and are free of spontaneous autoimmune disease, but become diabetic in response to depletion of RT6+ T cells. The basis for the predisposition to autoimmunity in BB rats is unknown. Abnormal T cell development in DP-BB rats can be detected intrathymically, and thymocytes from DR-BB rats adoptively transfer diabetes. The mechanisms underlying these T cell developmental abnormalities are not known. To study these processes, we established adult thymus organ cultures (ATOC). We report that cultured DR- and DP-BB rat thymi generate mature CD4 and CD8 single-positive cells with up-regulated TCRs. DR-BB rat cultures also generate T cells that express RT6. In contrast, DP-BB rat cultures generate fewer CD4+, CD8+, and RT6+ T cells. Analysis of the cells obtained from ATOC suggested that the failure of cultured DP-BB rat thymi to generate T cells with a mature phenotype is due in part to an increased rate of apoptosis. Consistent with this inference, we observed that addition of the general caspase inhibitor Z-VAD-FMK substantially increases the number of both mature and immature T cells produced by DP-BB rat ATOC. We conclude that cultured DR-BB and DP-BB rat thymi, respectively, recapitulate the normal and abnormal T cell developmental kinetics and phenotypes observed in these animals in vivo. Such cultures should facilitate identification of the underlying pathological processes that lead to immune dysfunction and autoimmunity in BB rats. PMID:10201921

  16. School-Based Sex Education and Neuroscience: What We Know about Sex, Romance, Marriage, and Adolescent Brain Development

    ERIC Educational Resources Information Center

    Ballonoff Suleiman, Ahna; Johnson, Megan; Shirtcliff, Elizabeth A.; Galván, Adriana

    2015-01-01

    Background: Many school-based abstinence-only sex education curricula state that sexual activity outside of marriage is likely to have harmful psychological effects. Recent advances in neuroscience have expanded our understanding of the neural underpinnings of romantic love, marriage, sexual desire, and sexual behavior and improved our…

  17. School-Based Sex Education and Neuroscience: What We Know about Sex, Romance, Marriage, and Adolescent Brain Development

    ERIC Educational Resources Information Center

    Ballonoff Suleiman, Ahna; Johnson, Megan; Shirtcliff, Elizabeth A.; Galván, Adriana

    2015-01-01

    Background: Many school-based abstinence-only sex education curricula state that sexual activity outside of marriage is likely to have harmful psychological effects. Recent advances in neuroscience have expanded our understanding of the neural underpinnings of romantic love, marriage, sexual desire, and sexual behavior and improved our…

  18. Performance Development in Adolescent Track and Field Athletes According to Age, Sex and Sport Discipline

    PubMed Central

    Tønnessen, Espen; Svendsen, Ida Siobhan; Olsen, Inge Christoffer; Guttormsen, Atle; Haugen, Thomas

    2015-01-01

    Introduction Sex-specific differences that arise during puberty have a pronounced effect on the training process. However, the consequences this should have for goal-setting, planning and implementation of training for boys and girls of different ages remains poorly understood. The aim of this study was to quantify performance developments in athletic running and jumping disciplines in the age range 11-18 and identify progression differences as a function of age, discipline and sex. Methods The 100 all-time best Norwegian male and female 60-m, 800-m, long jump and high jump athletes in each age category from 11 to 18 years were analysed using mixed models with random intercept according to athlete. Results Male and female athletes perform almost equally in running and jumping events up to the age of 12. Beyond this age, males outperform females. Relative annual performance development in females gradually decreases throughout the analyzed age period. In males, annual relative performance development accelerates up to the age of 13 (for running events) or 14 (for jumping events) and then gradually declines when approaching 18 years of age. The relative improvement from age 11 to 18 was twice as high in jumping events compared to running events. For all of the analyzed disciplines, overall improvement rates were >50% higher for males than for females. The performance sex difference evolves from < 5% to 10-18% in all the analyzed disciplines from age 11 to 18 yr. Conclusion To the authors’ knowledge, this is the first study to present absolute and relative annual performance developments in running and jumping events for competitive athletes from early to late adolescence. These results allow coaches and athletes to set realistic goals and prescribe conditioning programs that take into account sex-specific differences in the rate of performance development at different stages of maturation. PMID:26043192

  19. Sex-Role Development in Young Children: Relationships to Behavioral and Attitudinal Measures of Parental Gender Schemas.

    ERIC Educational Resources Information Center

    Perry, Louise C.; Morgan, Amy K.

    To explore early sex-role development, this study examined the gender schemas of parents in relation to the sex-typed toy preferences of their own young children. Subjects were 82 parents of children between the ages of 3 and 8. Test stimuli consisted of 2 equivalent lists of 24 occupations, each list containing 8 occupations coded as typically…

  20. Sex Differences in Children with Autism Spectrum Disorders Compared with Their Unaffected Siblings and Typically Developing Children

    ERIC Educational Resources Information Center

    Park, Subin; Cho, Soo-Churl; Cho, In Hee; Kim, Boong-Nyun; Kim, Jae-Won; Shin, Min-Sup; Chung, Un-Sun; Park, Tae-Won; Son, Jung-Woo; Yoo, Hee Jeong

    2012-01-01

    This study examined the nature of cognitive and behavioral sex differences in children with autism spectrum disorders (ASDs) and two comparison groups: a group of typically developing (TD) children and a group of unaffected siblings of ASD children. Sex differences in core autistic symptoms, co-occurring behavioral symptoms, and cognitive styles…

  1. Abnormal pressures as hydrodynamic phenomena

    USGS Publications Warehouse

    Neuzil, C.E.

    1995-01-01

    So-called abnormal pressures, subsurface fluid pressures significantly higher or lower than hydrostatic, have excited speculation about their origin since subsurface exploration first encountered them. Two distinct conceptual models for abnormal pressures have gained currency among earth scientists. The static model sees abnormal pressures generally as relict features preserved by a virtual absence of fluid flow over geologic time. The hydrodynamic model instead envisions abnormal pressures as phenomena in which flow usually plays an important role. This paper develops the theoretical framework for abnormal pressures as hydrodynamic phenomena, shows that it explains the manifold occurrences of abnormal pressures, and examines the implications of this approach. -from Author

  2. Chromosome abnormalities in human arrested preimplantation embryos: A multiple-probe FISH study

    SciTech Connect

    Munne, S.; Grifo, J.; Cohen, J. ); Weier, H.U.G. )

    1994-07-01

    Numerical chromosome abnormalities were studied in single blastomeres from arrested or otherwise morphologically abnormal human preimplantation embryos. A 6-h FISH procedure with fluorochrome-labeled DNA probes was developed to determine numerical abnormalities of chromosomes X, Y, and 18. The three chromosomes were stained and detected simultaneously in 571 blastomeres from 131 embryos. Successful analysis including biopsy, fixation, and FISH analysis was achieved in 86.5% of all blastomeres. The procedure described here offers a reliable alternative to sexing of embryos by PCR and allows simultaneous ploidy assessment. For the three chromosomes tested, numerical aberrations were found in 56.5% of the embroys. Most abnormal embryos were polyploid or mosaics, and 6.1% were aneuploid for gonosomes or chromosome 18. Extrapolation of these results to all human chromosomes suggests that the majority of abnormally developing and arrested human embryos carry numerical chromosome abnormalities. 44 refs., 1 fig., 4 tabs.

  3. Analysis of the Sonic Hedgehog Signaling Pathway in Normal and Abnormal Bladder Development

    PubMed Central

    DeSouza, Kristin R.; Saha, Monalee; Carpenter, Ashley R.; Scott, Melissa; McHugh, Kirk M.

    2013-01-01

    In this study, we examined the expression of Sonic Hedgehog, Patched, Gli1, Gli2, Gli3 and Myocardin in the developing bladders of male and female normal and megabladder (mgb?/?) mutant mice at embryonic days 12 through 16 by in situ hybridization. This analysis indicated that each member of the Sonic Hedgehog signaling pathway as well as Myocardin displayed distinct temporal and spatial patterns of expression during normal bladder development. In contrast, mgb?/? bladders showed both temporal and spatial changes in the expression of Patched, Gli1 and Gli3 as well as a complete lack of Myocardin expression. These changes occurred primarily in the outer mesenchyme of developing mgb?/? bladders consistent with the development of an amuscular bladder phenotype in these animals. These results provide the first comprehensive analysis of the Sonic Hedgehog signaling pathway during normal bladder development and provide strong evidence that this key signaling cascade is critical in establishing radial patterning in the developing bladder. In addition, the lack of detrusor smooth muscle development observed in mgb?/? mice is associated with bladder-specific temporospatial changes in Sonic Hedgehog signaling coupled with a lack of Myocardin expression that appears to result in altered patterning of the outer mesenchyme and poor initiation and differentiation of smooth muscle cells within this region of the developing bladder. PMID:23308271

  4. [Role of nitrites and nitroso derivatives on the development of abnormal colorations in cheeses. Study of their decomposition].

    PubMed

    Huynh, C H; Huynh, S; Boivinet, P

    1980-01-01

    Nitrites and nitroso compounds have been incriminated in the development of abnormal colourations of "pont-l'évêque". In a preparation of these cheeses nitrites were added either to the milk or during the manufacturing procedures and in all cases were noticed pink or brown stains and bursting of the cheese pulp with formation of cavities. Our results have demonstrated it is possible to break down these nitroso-compounds with an enzyme from yeast. This enzyme detoxifies the medium following a mechanism which has been elucidated. The addition of yeasts to the cheeses during manufacturing helps to accelerate the desintegration process of the coloured compounds and to obtain a uniform shade of the crust and a total absence of deeper stains. We have shown that the nitrites present in the cheeses will form nitroso compounds. The latter are then responsible for the abnormal and irregular stains; their rapid decomposition helps to detoxify the medium as well as ameliorating the aspect of the cheeses. PMID:7258907

  5. Precious cargo: regulation of sex-specific germ cell development in mice.

    PubMed

    Bowles, J; Koopman, P

    2013-01-01

    Although mammalian sex determination is normally specified genetically by an XX or XY chromosome complement, germ cells develop as sperm or oocytes in response to molecular cues provided by the gonadal somatic cells. In an ovary, germ cells enter meiosis during fetal life, thereby committing to oogenesis. In a testis, germ cells do not enter meiosis until after birth, at puberty. Recent findings indicate that, in mice, the sex-specific timing of entry into meiosis is governed by the balance between 2 secreted signalling molecules, retinoic acid (RA), which promotes entry into meiosis, and fibroblast growth factor 9 (FGF9), which counteracts RA. The combined action of these 2 molecular regulators provides a safety mechanism to guard against germ cell dysregulation that can lead to infertility or germ cell cancers. PMID:22947624

  6. Chronic exposure to low concentrations of hydrogen sulfide produces abnormal growth in developing cerebellar Purkinje cells.

    PubMed

    Hannah, R S; Roth, S H

    1991-01-28

    Hydrogen sulfide (H2S) may produce deleterious effects on the developing central nervous system. The dendritic fields of developing cerebellar Purkinje cells were analyzed to determine the effects of chronic exposure to low concentrations of H2S during perinatal development. Treatment with two concentrations (20 and 50 ppm) of H2S produced severe alterations in the architecture and growth characteristics of the Purkinjec cell dendritic fields. The architectural modifications included longer branches, an increase in the vertex path length and variations in the number of branches in particular areas of the dendritic field. The treated cells also exhibited a nonsymmetrical growth pattern at a time when random terminal branching is normally occurring. These findings suggest that developing neurons exposed to low concentrations of H2S are at risk of severe deficits. PMID:2027523

  7. Sufficient Numbers of Early Germ Cells Are Essential for Female Sex Development in Zebrafish

    PubMed Central

    Dai, Xiangyan; Jin, Xia; Chen, Xiaowen; He, Jiangyan; Yin, Zhan

    2015-01-01

    The sex determination for zebrafish is controlled by a combination of genetic and environmental factors. The determination of sex in zebrafish has been suggested to rely on a mechanism that is affected by germ cell-derived signals. To begin our current study, a simplified and efficient germ cell-specific promoter of the dead end (dnd) gene was identified. Utilizing the metrodinazole (MTZ)/ bacterial nitroreductase (NTR) system for inducible germ cell ablation, several stable Tg (dnd:NTR-EGFP-3'UTR) and Tg (dnd:NTR-EGFP+3'UTR) zebrafish lines were then generated with the identified promoter. A thorough comparison of the expression patterns and tissue distributions of endogenous dnd and ntr-egfp transcripts in vivo revealed that the identified 2032-bp zebrafish dnd promoter can recapitulate dnd expression faithfully in stable transgenic zebrafish. The correlation between the levels of the germ cell-derived signals and requirement for maintaining the female fate has been also explored with different durations of the MTZ treatments. Our results revealed the decreasing ratios of female presented in the treated transgenic group are fairly associated with the reducing levels of the early germ cell-derived signals. After the juvenile transgenic fish treated with 5 mM MTZ for 20 days, all MTZ-treated transgenic fish exclusively developed into males with subfertilities. Taken together, our results identified here a simplified and efficient dnd promoter, and provide clear evidence indicating that it was not the presence but the sufficiency of signals derived from germ cells that is essential for female sex development in zebrafish. Our model also provides a unique system for sex control in zebrafish studies. PMID:25679390

  8. Sufficient numbers of early germ cells are essential for female sex development in zebrafish.

    PubMed

    Dai, Xiangyan; Jin, Xia; Chen, Xiaowen; He, Jiangyan; Yin, Zhan

    2015-01-01

    The sex determination for zebrafish is controlled by a combination of genetic and environmental factors. The determination of sex in zebrafish has been suggested to rely on a mechanism that is affected by germ cell-derived signals. To begin our current study, a simplified and efficient germ cell-specific promoter of the dead end (dnd) gene was identified. Utilizing the metrodinazole (MTZ)/ bacterial nitroreductase (NTR) system for inducible germ cell ablation, several stable Tg (dnd:NTR-EGFP(-3'UTR)) and Tg (dnd:NTR-EGFP(+3'UTR)) zebrafish lines were then generated with the identified promoter. A thorough comparison of the expression patterns and tissue distributions of endogenous dnd and ntr-egfp transcripts in vivo revealed that the identified 2032-bp zebrafish dnd promoter can recapitulate dnd expression faithfully in stable transgenic zebrafish. The correlation between the levels of the germ cell-derived signals and requirement for maintaining the female fate has been also explored with different durations of the MTZ treatments. Our results revealed the decreasing ratios of female presented in the treated transgenic group are fairly associated with the reducing levels of the early germ cell-derived signals. After the juvenile transgenic fish treated with 5 mM MTZ for 20 days, all MTZ-treated transgenic fish exclusively developed into males with subfertilities. Taken together, our results identified here a simplified and efficient dnd promoter, and provide clear evidence indicating that it was not the presence but the sufficiency of signals derived from germ cells that is essential for female sex development in zebrafish. Our model also provides a unique system for sex control in zebrafish studies. PMID:25679390

  9. The Development of Sex Category Representation in Infancy: Matching of Faces and Bodies

    ERIC Educational Resources Information Center

    Hock, Alyson; Kangas, Ashley; Zieber, Nicole; Bhatt, Ramesh S.

    2015-01-01

    Sex is a significant social category, and adults derive information about it from both faces and bodies. Research indicates that young infants process sex category information in faces. However, no prior study has examined whether infants derive sex categories from bodies and match faces and bodies in terms of sex. In the current study,…

  10. The Development of Sex Category Representation in Infancy: Matching of Faces and Bodies

    ERIC Educational Resources Information Center

    Hock, Alyson; Kangas, Ashley; Zieber, Nicole; Bhatt, Ramesh S.

    2015-01-01

    Sex is a significant social category, and adults derive information about it from both faces and bodies. Research indicates that young infants process sex category information in faces. However, no prior study has examined whether infants derive sex categories from bodies and match faces and bodies in terms of sex. In the current study,…

  11. Auditory Processing in Infancy: Do Early Abnormalities Predict Disorders of Language and Cognitive Development?

    ERIC Educational Resources Information Center

    Guzzetta, Francesco; Conti, Guido; Mercuri, Eugenio

    2011-01-01

    Increasing attention has been devoted to the maturation of sensory processing in the first year of life. While the development of cortical visual function has been thoroughly studied, much less information is available on auditory processing and its early disorders. The aim of this paper is to provide an overview of the assessment techniques for…

  12. Disorders of Sex Development (DSD): Peer Relations and Psychosocial Well-Being.

    PubMed

    Bukowski, W M; McCauley, E; Mazur, T

    2015-05-01

    Social and emotional development is shaped by familial and extra-familial experiences especially interactions with peers. Children and adolescents with physical, behavioral or developmental differences, such as youth with disorders of sex development (DSD), may not benefit to the same degree as other children and adolescents from experiences with peers. This paper reviews current thinking about the features and effects of experiences with peers and the potential challenges of peer interactions for children and adolescents with DSD. We review findings from studies of adjustment for individuals with DSD. We finish the paper with a brief outline of a research agenda to promote the understanding of adjustment of individuals with DSD. PMID:25970712

  13. Chromosomal abnormalities in oocytes.

    PubMed

    Plachot, M

    2001-10-22

    Since the beginning of in vitro fertilization (IVF), basic research has provided insight in the field of human reproduction, especially in genetics. Indeed, the contribution of chromosomal abnormalities to oocyte disorders and impaired embryonic development is now well known. Of oocytes that fail to fertilize after in vitro insemination, 26.5% have been found to be abnormal, with 13.3% showing hypohaploidy, 8.1% hyperhaploidy, 1.6% structural abnormalities and 3.5% diploidy. The total incidence of abnormalities seems to be correlated with the fertility status of the woman. It is higher in oocytes from women with tubal or unexplained infertility than in those from women whose husband's infertility is the sole cause of infertility in the couple. Although few oocytes recovered during natural cycles have been studied, gonadotropins, which are widely used to stimulate follicle growth and ovulation, do not increase the risk of abnormalities. The effect of maternal age on fetal aneuploidy, well documented at birth, has not been unambiguously shown to result from an increase in the frequency of aneuploid oocytes. Intra- and extra-follicular influences (perifollicular microvasculature, oxygenation, and the presence of residues from cigarette smoke) may disturb maturation, leading to immaturity and aneuploidy. Thus, oocyte meiosis is very sensitive to endogenous and exogenous factors that could result in oocytes with chromosomal abnormalities and therefore, abnormal zygotes. PMID:11576735

  14. Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

    PubMed Central

    Baxter, Ruth M.; Arboleda, Valerie A.; Lee, Hane; Barseghyan, Hayk; Adam, Margaret P.; Fechner, Patricia Y.; Bargman, Renee; Keegan, Catherine; Travers, Sharon; Schelley, Susan; Hudgins, Louanne; Mathew, Revi P.; Stalker, Heather J.; Zori, Roberto; Gordon, Ora K.; Ramos-Platt, Leigh; Pawlikowska-Haddal, Anna; Eskin, Ascia; Nelson, Stanley F.; Délot, Emmanuèle

    2015-01-01

    Context: Disorders of sex development (DSD) are clinical conditions where there is a discrepancy between the chromosomal sex and the phenotypic (gonadal or genital) sex of an individual. Such conditions can be stressful for patients and their families and have historically been difficult to diagnose, especially at the genetic level. In particular, for cases of 46,XY gonadal dysgenesis, once variants in SRY and NR5A1 have been ruled out, there are few other single gene tests available. Objective: We used exome sequencing followed by analysis with a list of all known human DSD-associated genes to investigate the underlying genetic etiology of 46,XY DSD patients who had not previously received a genetic diagnosis. Design: Samples were either submitted to the research laboratory or submitted as clinical samples to the UCLA Clinical Genomic Center. Sequencing data were filtered using a list of genes known to be involved in DSD. Results: We were able to identify a likely genetic diagnosis in more than a third of cases, including 22.5% with a pathogenic finding, an additional 12.5% with likely pathogenic findings, and 15% with variants of unknown clinical significance. Conclusions: Early identification of the genetic cause of a DSD will in many cases streamline and direct the clinical management of the patient, with more focused endocrine and imaging studies and better-informed surgical decisions. Exome sequencing proved an efficient method toward such a goal in 46,XY DSD patients. PMID:25383892

  15. Development and application of a mark-recapture model incorporating predicted sex and transitory behaviour

    USGS Publications Warehouse

    Conroy, M.J.; Senar, J.C.; Hines, J.E.; Domenech, J.

    1999-01-01

    We developed an extension of Cormack-Jolly-Seber models to handle a complex mark-recapture problem in which (a) the sex of birds cannot be determined prior to first moult, but can be predicted on the basis of body measurements, and (b) a significant portion of captured birds appear to be transients (i.e. are captured once but leave the area or otherwise become ' untrappable'). We applied this methodology to a data set of 4184 serins (Serinus serinus) trapped in northeastern Spain during 1985-96, in order to investigate age-, sex-, and time-specific variation in survival rates. Using this approach, we were able to successfully incorporate the majority of ringings of serins. Had we eliminated birds not previously captured (as has been advocated to avoid the problem of transience) we would have reduced our sample sizes by >2000 releases. In addition, we were able to include 1610 releases of birds of unknown (but predicted) sex; these data contributed to the precision of our estimates and the power of statistical tests. We discuss problems with data structure, encoding of the algorithms to compute parameter estimates, model selection, identifiability of parameters, and goodness-of-fit, and make recommendations for the design and analysis of future studies facing similar problems.

  16. Development and application of a mark-recapture model incorporating predicted sex and transitory behaviour

    USGS Publications Warehouse

    Conroy, M.J.; Senar, J.C.; Hines, J.E.; Domenech, J.

    1999-01-01

    We developed an extension of Cormack-Jolly-Seber models to handle a complex mark-recapture problem in which (a) the sex of birds cannot be determined prior to first moult, but can be predicted on the basis of body measurements, and (b) a significant portion of captured birds appear to be transients (i.e. are captured once but leave the area or otherwise become 'untrappable'). We applied this methodology to a data set of 4184 serins (Serinus serinus) trapped in northeastern Spain during 1985-96, in order to investigate age-, sex-, and time-specific variation in survival rates. Using this approach, we were able to successfully incorporate the majority of ringings of serins. Had we eliminated birds not previously captured (as has been advocated to avoid the problem of transience) we would have reduced our sample sizes by >2000 releases. In addition, we were able to include 1610 releases of birds of unknown (but predicted) sex; these data contributed to the precision of our estimates and the power of statistical tests. We discuss problems with data structure, encoding of the algorithms to compute parameter estimates, model selection, identifiability of parameters, and goodness-of-fit, and make recommendations for the design and analysis of future studies facing similar problems.

  17. The Development of Sex Reassignment Surgery in Thailand: A Social Perspective

    PubMed Central

    Chokrungvaranont, Prayuth; Jindarak, Sirachai; Angspatt, Apichai; Pungrasmi, Pornthep; Suwajo, Poonpismai; Tiewtranon, Preecha

    2014-01-01

    This paper reviews the development of gender reassignment in Thailand during the period of 1975–2012, in terms of social attitude, epidemiology, surgical patients' profile, law and regulation, religion, and patients' path from psychiatric assessment to surgery. Thailand healthcare for transsexual patients is described. Figures related to the number of sex reassignment surgeries performed in Thailand over the past 30 years are reported. Transsexual individuals are only apparently integrated within the Thail society: the law system of Thailand in fact, does not guarantee to transsexuals the same rights as in other Western countries; the governmental healthcare does not offer free treatments for transsexual patients. In favor of the transsexual healthcare, instead, the Medical Council of Thailand recently published a policy entitled “Criteria for the treatment of sex change, Census 2009.” The goal of this policy was to improve the care of transsexual patients in Thailand, by implementing the Standards of Care of the World Professional Association of Transgender Health. Currently, in Thailand, there are 6 major private groups performing sex reassignment surgery, and mostly performing surgery to patients coming from abroad. Particularly, the largest of these (Preecha's group) has performed nearly 3000 vaginoplasties for male-to-female transsexuals in the last 30 years. PMID:24772010

  18. Islamic bioethical deliberation on the issue of newborns with disorders of sex development.

    PubMed

    Mohamed, Mohd Salim; Noor, Siti Nurani Mohd

    2015-04-01

    This article presents the Islamic bioethical deliberation on the issue of sex assignment surgery (SAS) for infants with disorders of sex development (DSD) or intersexed as a case study. The main objective of this study is to present a different approach in assessing a biomedical issue within the medium of the Maqasid al-Shari'ah. Within the framework of the maqasidic scheme of benefits and harms, any practice where benefits are substantial is considered permissible, while those promoting harms are prohibited. The concept of Maqasid al-Shari'ah which is the mechanistic interpretation of Qur'an and Hadith presents the holistic attention of Islam on many life activities, including healthcare. Indeed, this concept encompasses many aspects of worldly life, both for the human individual and collectively for the whole society. In healthcare, the practice of SAS on DSD newborns has presented an assortment of implications on the future livelihood of the affected individual. The process of decision-making seems to be very multifaceted since every element such as the determination of the 'correct' sex and the urgency of early surgery must consider the benefits and harms, as well as the child's rights and best interest. The application of the concept of Maqasid al-Shari'ah, would convey a pragmatic approach that is often disregarded in Western medicine. This approach considers the right of the individual to live life optimally, individually and socially and practice his faith, precisely, in accordance with the assigned gender. PMID:24664170

  19. Overexpression of the CmACS-3 gene in melon causes abnormal pollen development.

    PubMed

    Zhang, H; Luan, F

    2015-01-01

    Sexual diversity expressed by the Curcurbitaceae family is a primary example of developmental plasticity in plants. Most melon genotypes are andromonoecious, where an initial phase of male flowers is followed by a mixture of bisexual and male flowers. Over-expression of the CmACS-3 gene in melon plants showed an increased number of flower buds, and increased femaleness as demonstrated by a larger number bisexual buds. Transformation of CmACS-3 in melons showed earlier development of and an increased number of bisexual buds that matured to anthesis but also increased the rate of development of the bisexual buds to maturity. Field studies showed that CmACS-3-overexpressing melons had earlier mature bisexual flowers, earlier fruit set, and an increased number of fruits set on closely spaced nodes on the main stem. PMID:26400274

  20. Nav2 hypomorphic mutant mice are ataxic and exhibit abnormalities in cerebellar development

    PubMed Central

    McNeill, Elizabeth M.; Klöckner-Bormann, Mariana; Roesler, Elizabeth C.; Talton, Lynn E.; Moechars, Dieder; Clagett-Dame, Margaret

    2011-01-01

    Development of the cerebellum involves a coordinated program of neuronal process outgrowth and migration resulting in a foliated structure that plays a key role in motor function. Neuron navigator 2 (Nav2) is a cytoskeletal-interacting protein that functions in neurite outgrowth and axonal elongation. Herein we show that hypomorphic mutant mice lacking the full-length Nav2 transcript exhibit ataxia and defects in cerebellar development. At embryonic day (E)17.5, the mutant cerebellum is reduced in size and exhibits defects in vermal foliation. Reduction in cell proliferation at early times (E12.5 and E14.5) may contribute to this size reduction. The full-length Nav2 transcript is expressed in the premigratory zone of the external granule layer (EGL). Granule cells in the germinal zone of the EGL appear to proliferate normally, however, due to the reduction in cerebellar circumference there are fewer total BrdU-labeled granule cells in the mutants, and these fail to migrate normally toward the interior of the cerebellum. In Nav2 hypomorphs, fewer granule cells migrate out of cerebellar EGL explants and neurite outgrowth from both explants and isolated external granule cell cultures is reduced. This suggests the formation of parallel axon fibers and neuronal migration is disrupted in Nav2 mutants. This work supports an essential role for full-length Nav2 in cerebellar development, including axonal elongation and migration of the EGL neurons. PMID:21419114

  1. Sex differences in T-lymphocyte tissue infiltration and development of angiotensin II hypertension.

    PubMed

    Pollow, Dennis P; Uhrlaub, Jennifer; Romero-Aleshire, Melissa J; Sandberg, Kathryn; Nikolich-Zugich, Janko; Brooks, Heddwen L; Hay, Meredith

    2014-08-01

    There is extensive evidence that activation of the immune system is both necessary and required for the development of angiotensin II (Ang II)-induced hypertension in males. The purpose of this study was to determine whether sex differences exist in the ability of the adaptive immune system to induce Ang II-dependent hypertension and whether central and renal T-cell infiltration during Ang II-induced hypertension is sex dependent. Recombinant activating gene-1 (Rag-1)(-/-) mice, lacking both T and B cells, were used. Male and female Rag-1(-/-) mice received adoptive transfer of male CD3(+) T cells 3 weeks before 14-day Ang II infusion (490 ng/kg per minute). Blood pressure was monitored via tail cuff. In the absence of T cells, systolic blood pressure responses to Ang II were similar between sexes (Δ22.1 mm Hg males versus Δ18 mm : Hg females). After adoptive transfer of male T cells, Ang II significantly increased systolic blood pressure in males (Δ37.7 mm : Hg; P<0.05) when compared with females (Δ13.7 mm : Hg). Flow cytometric analysis of total T cells and CD4(+), CD8(+), and regulatory Foxp3(+)-CD4(+) T-cell subsets identified that renal lymphocyte infiltration was significantly increased in males versus females in both control and Ang II-infused animals (P<0.05). Immunohistochemical staining for CD3(+)-positive T cells in the subfornical organ region of the brain was increased in males when compared with that in females. These results suggest that female Rag-1(-/-) mice are protected from male T-cell-mediated increases in Ang II-induced hypertension when compared with their male counterparts, and this protection may involve sex differences in the magnitude of T-cell infiltration of the kidney and brain. PMID:24890822

  2. Elevated Id2 expression results in precocious neural stem cell depletion and abnormal brain development.

    PubMed

    Park, Hee Jung; Hong, Mingi; Bronson, Roderick T; Israel, Mark A; Frankel, Wayne N; Yun, Kyuson

    2013-05-01

    Id2 is a helix-loop-helix transcription factor essential for normal development, and its expression is dysregulated in many human neurological conditions. Although it is speculated that elevated Id2 levels contribute to the pathogenesis of these disorders, it is unknown whether dysregulated Id2 expression is sufficient to perturb normal brain development or function. Here, we show that mice with elevated Id2 expression during embryonic stages develop microcephaly, and that females in particular are prone to generalized tonic-clonic seizures. Analyses of Id2 transgenic brains indicate that Id2 activity is highly cell context specific: elevated Id2 expression in naive neural stem cells (NSCs) in early neuroepithelium induces apoptosis and loss of NSCs and intermediate progenitors. Activation of Id2 in maturing neuroepithelium results in less severe phenotypes and is accompanied by elevation of G1 cyclin expression and p53 target gene expression. In contrast, activation of Id2 in committed intermediate progenitors has no significant phenotype. Functional analysis with Id2-overexpressing and Id2-null NSCs shows that Id2 negatively regulates NSC self-renewal in vivo, in contrast to previous cell culture experiments. Deletion of p53 function from Id2-transgenic brains rescues apoptosis and results in increased incidence of brain tumors. Furthermore, Id2 overexpression normalizes the increased self-renewal of p53-null NSCs, suggesting that Id2 activates and modulates the p53 pathway in NSCs. Together, these data suggest that elevated Id2 expression in embryonic brains can cause deregulated NSC self-renewal, differentiation, and survival that manifest in multiple neurological outcomes in mature brains, including microcephaly, seizures, and brain tumors. PMID:23390122

  3. 46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.

    PubMed

    Esplin, Edward D; Chaib, Hassan; Haney, Michael; Martin, Brock; Homeyer, Margaret; Urban, Alexander E; Bernstein, Jonathan A

    2015-06-01

    The association of 46,XY disorder of sex development (DSD) with congenital diaphragmatic hernia (CDH) is rare, but has been previously described with and without other congenital anomalies. Literature review identified five cases of 46,XY DSD associated with CDH and other congenital anomalies. These five cases share characteristics including CDH, 46,XY karyotype with external female appearing or ambiguous genitalia, cardiac anomalies, and decreased life span. The present case had novel features including truncus arteriosus, bifid thymus, gut malrotation, and limb anomalies consisting of rhizomelia and adactyly. With this case report, we present a review of the literature of cases of 46,XY DSD and CDH in association with multiple congenital abnormalities. This case may represent a unique syndrome of 46,XY DSD and diaphragmatic hernia or a more severe presentation of a syndrome represented in the previously reported cases. PMID:25898814

  4. Normal and abnormal cerebrovascular development: gene-environment interactions during early life with later life consequences.

    PubMed

    Scher, Mark S

    2013-01-01

    A greater understanding of cerebrovascular health and disease requires the consideration of recent neuroscience advances concerning neuroplasticity in the context of classical developmental neurology principles. Consideration of the ontogenetic interplay of nature and nurture influencing brain development during prenatal and early postnatal time periods should consider the concept of the developmental origins of neurological health and disease. Adaptive and maladaptive effects of neuroplasticity require a systems biology approach integrating molecular, receptor, cellular, neural network, and behavioral perspectives, culminating in the structural and functional cerebrovascular phenotypes that express health or disease across the lifespan. Cognizance of the interrelationships among maternal, placental, fetal, and neonatal factors requires an interdisciplinary appreciation of genetic/epigenetic forces of neuroplasticity during early life that incrementally influence cerebrovascular health or disease throughout childhood and adulthood. Knowledge of the systemic effects of multiorgan function on cerebrovascular development further broadens the systems biology approach to general plasticity of the individual as a whole organism. Short- and long-term consequences of the positive and negative effects of neuroplasticity must consider ongoing gene-environment interactions with maturation and aging, superimposed on earlier fetal/neonatal experiences that sustain neurological health or contribute to disease during childhood and adulthood. PMID:23622309

  5. P53 functional abnormality in mesenchymal stem cells promotes osteosarcoma development.

    PubMed

    Velletri, T; Xie, N; Wang, Y; Huang, Y; Yang, Q; Chen, X; Chen, Q; Shou, P; Gan, Y; Cao, G; Melino, G; Shi, Y

    2016-01-01

    It has been shown that p53 has a critical role in the differentiation and functionality of various multipotent progenitor cells. P53 mutations can lead to genome instability and subsequent functional alterations and aberrant transformation of mesenchymal stem cells (MSCs). The significance of p53 in safeguarding our body from developing osteosarcoma (OS) is well recognized. During bone remodeling, p53 has a key role in negatively regulating key factors orchestrating the early stages of osteogenic differentiation of MSCs. Interestingly, changes in the p53 status can compromise bone homeostasis and affect the tumor microenvironment. This review aims to provide a unique opportunity to study the p53 function in MSCs and OS. In the context of loss of function of p53, we provide a model for two sources of OS: MSCs as progenitor cells of osteoblasts and bone tumor microenvironment components. Standing at the bone remodeling point of view, in this review we will first explain the determinant function of p53 in OS development. We will then summarize the role of p53 in monitoring MSC fidelity and in regulating MSC differentiation programs during osteogenesis. Finally, we will discuss the importance of loss of p53 function in tissue microenvironment. We expect that the information provided herein could lead to better understanding and treatment of OS. PMID:26775693

  6. P53 functional abnormality in mesenchymal stem cells promotes osteosarcoma development

    PubMed Central

    Velletri, T; Xie, N; Wang, Y; Huang, Y; Yang, Q; Chen, X; Chen, Q; Shou, P; Gan, Y; Cao, G; Melino, G; Shi, Y

    2015-01-01

    It has been shown that p53 has a critical role in the differentiation and functionality of various multipotent progenitor cells. P53 mutations can lead to genome instability and subsequent functional alterations and aberrant transformation of mesenchymal stem cells (MSCs). The significance of p53 in safeguarding our body from developing osteosarcoma (OS) is well recognized. During bone remodeling, p53 has a key role in negatively regulating key factors orchestrating the early stages of osteogenic differentiation of MSCs. Interestingly, changes in the p53 status can compromise bone homeostasis and affect the tumor microenvironment. This review aims to provide a unique opportunity to study the p53 function in MSCs and OS. In the context of loss of function of p53, we provide a model for two sources of OS: MSCs as progenitor cells of osteoblasts and bone tumor microenvironment components. Standing at the bone remodeling point of view, in this review we will first explain the determinant function of p53 in OS development. We will then summarize the role of p53 in monitoring MSC fidelity and in regulating MSC differentiation programs during osteogenesis. Finally, we will discuss the importance of loss of p53 function in tissue microenvironment. We expect that the information provided herein could lead to better understanding and treatment of OS. PMID:26775693

  7. Annual Research Review: Growth connectomics – the organization and reorganization of brain networks during normal and abnormal development

    PubMed Central

    Vértes, Petra E; Bullmore, Edward T

    2015-01-01

    Background We first give a brief introduction to graph theoretical analysis and its application to the study of brain network topology or connectomics. Within this framework, we review the existing empirical data on developmental changes in brain network organization across a range of experimental modalities (including structural and functional MRI, diffusion tensor imaging, magnetoencephalography and electroencephalography in humans). Synthesis We discuss preliminary evidence and current hypotheses for how the emergence of network properties correlates with concomitant cognitive and behavioural changes associated with development. We highlight some of the technical and conceptual challenges to be addressed by future developments in this rapidly moving field. Given the parallels previously discovered between neural systems across species and over a range of spatial scales, we also review some recent advances in developmental network studies at the cellular scale. We highlight the opportunities presented by such studies and how they may complement neuroimaging in advancing our understanding of brain development. Finally, we note that many brain and mind disorders are thought to be neurodevelopmental in origin and that charting the trajectory of brain network changes associated with healthy development also sets the stage for understanding abnormal network development. Conclusions We therefore briefly review the clinical relevance of network metrics as potential diagnostic markers and some recent efforts in computational modelling of brain networks which might contribute to a more mechanistic understanding of neurodevelopmental disorders in future. PMID:25441756

  8. Development of two highly sensitive forensic sex determination assays based on human DYZ1 and Alu repetitive DNA elements.

    PubMed

    Fazi, Amanda; Gobeski, Brianne; Foran, David

    2014-11-01

    Sex determination is a critical component of forensic identification, the standard genetic method for which is detection of the single copy amelogenin gene that has differing homologues on the X and Y chromosomes. However, this assay may not be sensitive enough when DNA samples are minute or highly compromised, thus other strategies for sex determination are needed. In the current research, two ultrasensitive sexing assays, based on real-time PCR and pyrosequencing, were developed targeting the highly repetitive elements DYZ1 on the Y chromosome and Alu on the autosomes. The DYZ1/Alu strategy was compared to amelogenin for overall sensitivity based on high molecular weight and degraded DNA, followed by assaying the sex of 34 touch DNA samples and DNA from 30 hair shafts. The real-time DYZ1/Alu assay proved to be approximately 1500 times more sensitive than its amelogenin counterpart based on high molecular weight DNA, and even more sensitive when sexing degraded DNA. The pyrosequencing DYZ1/Alu assay correctly sexed 26 of the touch DNAs, compared to six using amelogenin. Hair shaft DNAs showed equally improved sexing results using the DYZ1/Alu assays. Overall, both DYZ1/Alu assays were far more sensitive and accurate than was the amelogenin assay, and thus show great utility for sexing poor quality and low quantity DNA evidence. PMID:25168471

  9. Abnormal development of monoaminergic neurons is implicated in mood fluctuations and bipolar disorder.

    PubMed

    Jukic, Marin M; Carrillo-Roa, Tania; Bar, Michal; Becker, Gal; Jovanovic, Vukasin M; Zega, Ksenija; Binder, Elisabeth B; Brodski, Claude

    2015-03-01

    Subtle mood fluctuations are normal emotional experiences, whereas drastic mood swings can be a manifestation of bipolar disorder (BPD). Despite their importance for normal and pathological behavior, the mechanisms underlying endogenous mood instability are largely unknown. During embryogenesis, the transcription factor Otx2 orchestrates the genetic networks directing the specification of dopaminergic (DA) and serotonergic (5-HT) neurons. Here we behaviorally phenotyped mouse mutants overexpressing Otx2 in the hindbrain, resulting in an increased number of DA neurons and a decreased number of 5-HT neurons in both developing and mature animals. Over the course of 1 month, control animals exhibited stable locomotor activity in their home cages, whereas mutants showed extended periods of elevated or decreased activity relative to their individual average. Additional behavioral paradigms, testing for manic- and depressive-like behavior, demonstrated that mutants showed an increase in intra-individual fluctuations in locomotor activity, habituation, risk-taking behavioral parameters, social interaction, and hedonic-like behavior. Olanzapine, lithium, and carbamazepine ameliorated the behavioral alterations of the mutants, as did the mixed serotonin receptor agonist quipazine and the specific 5-HT2C receptor agonist CP-809101. Testing the relevance of the genetic networks specifying monoaminergic neurons for BPD in humans, we applied an interval-based enrichment analysis tool for genome-wide association studies. We observed that the genes specifying DA and 5-HT neurons exhibit a significant level of aggregated association with BPD but not with schizophrenia or major depressive disorder. The results of our translational study suggest that aberrant development of monoaminergic neurons leads to mood fluctuations and may be associated with BPD. PMID:25241801

  10. Neural tube opening and abnormal extraembryonic membrane development in SEC23A deficient mice

    PubMed Central

    Zhu, Min; Tao, Jiayi; Vasievich, Matthew P.; Wei, Wei; Zhu, Guojing; Khoriaty, Rami N.; Zhang, Bin

    2015-01-01

    COPII (coat protein complex-II) vesicles transport proteins from the endoplasmic reticulum (ER) to the Golgi. Higher eukaryotes have two or more paralogs of most COPII components. Here we characterize mice deficient for SEC23A and studied interactions of Sec23a null allele with the previously reported Sec23b null allele. SEC23A deficiency leads to mid-embryonic lethality associated with defective development of extraembryonic membranes and neural tube opening in midbrain. Secretion defects of multiple collagen types are observed in different connective tissues, suggesting that collagens are primarily transported in SEC23A-containing vesicles in these cells. Other extracellular matrix proteins, such as fibronectin, are not affected by SEC23A deficiency. Intracellular accumulation of unsecreted proteins leads to strong induction of the unfolded protein response in collagen-producing cells. No collagen secretion defects are observed in SEC23B deficient embryos. We report that E-cadherin is a cargo that accumulates in acini of SEC23B deficient pancreas and salivary glands. Compensatory increase of one paralog is observed in the absence of the second paralog. Haploinsufficiency of the remaining Sec23 paralog on top of homozygous inactivation of the first paralog leads to earlier lethality of embryos. Our results suggest that mammalian SEC23A and SEC23B transport overlapping yet distinct spectra of cargo in vivo. PMID:26494538

  11. Neural tube opening and abnormal extraembryonic membrane development in SEC23A deficient mice.

    PubMed

    Zhu, Min; Tao, Jiayi; Vasievich, Matthew P; Wei, Wei; Zhu, Guojing; Khoriaty, Rami N; Zhang, Bin

    2015-01-01

    COPII (coat protein complex-II) vesicles transport proteins from the endoplasmic reticulum (ER) to the Golgi. Higher eukaryotes have two or more paralogs of most COPII components. Here we characterize mice deficient for SEC23A and studied interactions of Sec23a null allele with the previously reported Sec23b null allele. SEC23A deficiency leads to mid-embryonic lethality associated with defective development of extraembryonic membranes and neural tube opening in midbrain. Secretion defects of multiple collagen types are observed in different connective tissues, suggesting that collagens are primarily transported in SEC23A-containing vesicles in these cells. Other extracellular matrix proteins, such as fibronectin, are not affected by SEC23A deficiency. Intracellular accumulation of unsecreted proteins leads to strong induction of the unfolded protein response in collagen-producing cells. No collagen secretion defects are observed in SEC23B deficient embryos. We report that E-cadherin is a cargo that accumulates in acini of SEC23B deficient pancreas and salivary glands. Compensatory increase of one paralog is observed in the absence of the second paralog. Haploinsufficiency of the remaining Sec23 paralog on top of homozygous inactivation of the first paralog leads to earlier lethality of embryos. Our results suggest that mammalian SEC23A and SEC23B transport overlapping yet distinct spectra of cargo in vivo. PMID:26494538

  12. Role of vascular reactive oxygen species in development of vascular abnormalities in diabetes.

    PubMed

    Son, Seok Man

    2007-09-01

    Macrovascular and microvascular diseases are currently the principal causes of morbidity and mortality in patients with diabetes. Oxidative stress has been postulated to be a major contributor to the pathogenesis of these events. There is considerable evidence that many biochemical pathways adversely affected by hyperglycemia and other substances that are found at elevated levels in diabetic patients are associated with the generation of reactive oxygen species, ultimately leading to increased oxidative stress in a variety of tissues. In the absence of an appropriate compensation by the endogenous antioxidant defense network, increased oxidative stress leads to the activation of stress-sensitive intracellular signaling pathways and the formation of gene products that cause cellular damage and contribute to the late complications of diabetes. It has recently been suggested that diabetic subjects with vascular complications may have a defective cellular antioxidant response against the oxidative stress generated by hyperglycemia. This raises the concept that antioxidant therapy may be of great interest in these patients. Although our understanding of how hyperglycemia-induced oxidative stress ultimately leads to tissue damage has advanced considerably in recent years, effective therapeutic strategies to prevent or delay the development of this damage remain limited. Thus, further investigations of therapeutic interventions to prevent or delay the progression of diabetic vascular complications are needed. PMID:17467110

  13. Activation of a Mitochondrial ATPase Gene Induces Abnormal Seed Development in Arabidopsis

    PubMed Central

    Baek, Kon; Seo, Pil Joon; Park, Chung-Mo

    2011-01-01

    The ATPases associated with various cellular activities (AAA) proteins are widespread in living organisms. Some of the AAA-type ATPases possess metalloprotease activities. Other members constitute the 26S proteasome complexes. In recent years, a few AAA members have been implicated in vesicle-mediated secretion, membrane fusion, cellular organelle biogenesis, and hypersensitive responses (HR) in plants. However, the physiological roles and biochemical activities of plant AAA proteins have not yet been defined at the molecular level, and regulatory mechanisms underlying their functions are largely unknown. In this study, we showed that overexpression of an Arabidopsis gene encoding a mitochondrial AAA protein, ATPase-in-Seed-Development (ASD), induces morphological and anatomical defects in seed maturation. The ASD gene is expressed at a high level during the seed maturation process and in mature seeds but is repressed rapidly in germinating seeds. Transgenic plants overexpressing the ASD gene are morphologically normal. However, seed formation is severely disrupted in the transgenic plants. The ASD gene is induced by abiotic stresses, such as low temperatures and high salinity, in an abscisic acid (ABA)- dependent manner. The ASD protein possesses ATPase activity and is localized into the mitochondria. Our observations suggest that ASD may play a role in seed maturation by influencing mitochondrial function under abiotic stress. PMID:21359673

  14. Role of abnormal lipid metabolism in development, progression, diagnosis and therapy of pancreatic cancer

    PubMed Central

    Swierczynski, Julian; Hebanowska, Areta; Sledzinski, Tomasz

    2014-01-01

    There is growing evidence that metabolic alterations play an important role in cancer development and progression. The metabolism of cancer cells is reprogrammed in order to support their rapid proliferation. Elevated fatty acid synthesis is one of the most important aberrations of cancer cell metabolism. An enhancement of fatty acids synthesis is required both for carcinogenesis and cancer cell survival, as inhibition of key lipogenic enzymes slows down the growth of tumor cells and impairs their survival. Based on the data that serum fatty acid synthase (FASN), also known as oncoantigen 519, is elevated in patients with certain types of cancer, its serum level was proposed as a marker of neoplasia. This review aims to demonstrate the changes in lipid metabolism and other metabolic processes associated with lipid metabolism in pancreatic ductal adenocarcinoma (PDAC), the most common pancreatic neoplasm, characterized by high mortality. We also addressed the influence of some oncogenic factors and tumor suppressors on pancreatic cancer cell metabolism. Additionally the review discusses the potential role of elevated lipid synthesis in diagnosis and treatment of pancreatic cancer. In particular, FASN is a viable candidate for indicator of pathologic state, marker of neoplasia, as well as, pharmacological treatment target in pancreatic cancer. Recent research showed that, in addition to lipogenesis, certain cancer cells can use fatty acids from circulation, derived from diet (chylomicrons), synthesized in liver, or released from adipose tissue for their growth. Thus, the interactions between de novo lipogenesis and uptake of fatty acids from circulation by PDAC cells require further investigation. PMID:24605027

  15. Avian Egg Odour Encodes Information on Embryo Sex, Fertility and Development

    PubMed Central

    Webster, Ben; Hayes, William; Pike, Thomas W.

    2015-01-01

    Avian chemical communication is a rapidly emerging field, but has been hampered by a critical lack of information on volatile chemicals that communicate ecologically relevant information (semiochemicals). A possible, but as yet unexplored, function of olfaction and chemical communication in birds is in parent-embryo and embryo-embryo communication. Communication between parents and developing embryos may act to mediate parental behaviour, while communication between embryos can control the synchronicity of hatching. Embryonic vocalisations and vibrations have been implicated as a means of communication during the later stages of development but in the early stages, before embryos are capable of independent movement and vocalisation, this is not possible. Here we show that volatiles emitted from developing eggs of Japanese quail (Coturnix japonica) convey information on egg fertility, along with the sex and developmental status of the embryo. Specifically, egg volatiles changed over the course of incubation, differed between fertile and infertile eggs, and were predictive of embryo sex as early as day 1 of incubation. Egg odours therefore have the potential to facilitate parent-embryo and embryo-embryo interactions by allowing the assessment of key measures of embryonic development long before this is possible through other modalities. It also opens up the intriguing possibility that parents may be able to glean further relevant information from egg volatiles, such as the health, viability and heritage of embryos. By determining information conveyed by egg-derived volatiles, we hope to stimulate further investigation into the ecological role of egg odours. PMID:25629413

  16. Avian egg odour encodes information on embryo sex, fertility and development.

    PubMed

    Webster, Ben; Hayes, William; Pike, Thomas W

    2015-01-01

    Avian chemical communication is a rapidly emerging field, but has been hampered by a critical lack of information on volatile chemicals that communicate ecologically relevant information (semiochemicals). A possible, but as yet unexplored, function of olfaction and chemical communication in birds is in parent-embryo and embryo-embryo communication. Communication between parents and developing embryos may act to mediate parental behaviour, while communication between embryos can control the synchronicity of hatching. Embryonic vocalisations and vibrations have been implicated as a means of communication during the later stages of development but in the early stages, before embryos are capable of independent movement and vocalisation, this is not possible. Here we show that volatiles emitted from developing eggs of Japanese quail (Coturnix japonica) convey information on egg fertility, along with the sex and developmental status of the embryo. Specifically, egg volatiles changed over the course of incubation, differed between fertile and infertile eggs, and were predictive of embryo sex as early as day 1 of incubation. Egg odours therefore have the potential to facilitate parent-embryo and embryo-embryo interactions by allowing the assessment of key measures of embryonic development long before this is possible through other modalities. It also opens up the intriguing possibility that parents may be able to glean further relevant information from egg volatiles, such as the health, viability and heritage of embryos. By determining information conveyed by egg-derived volatiles, we hope to stimulate further investigation into the ecological role of egg odours. PMID:25629413

  17. Involvement of ethylene in sex expression and female flower development in watermelon (Citrullus lanatus).

    PubMed

    Manzano, Susana; Martínez, Cecilia; García, Juan Manuel; Megías, Zoraida; Jamilena, Manuel

    2014-12-01

    Although it is known that ethylene has a masculinizing effect on watermelon, the specific role of this hormone in sex expression and flower development has not been analyzed in depth. By using different approaches the present work demonstrates that ethylene regulates differentially two sex-related developmental processes: sexual expression, i.e. the earliness and the number of female flowers per plant, and the development of individual floral buds. Ethylene production in the shoot apex as well as in male, female and bisexual flowers demonstrated that the female flower requires much more ethylene than the male one to develop, and that bisexual flowers result from a decrease in ethylene production in the female floral bud. The occurrence of bisexual flowers was found to be associated with elevated temperatures in the greenhouse, concomitantly with a reduction of ethylene production in the shoot apex. External treatments with ethephon and AVG, and the use of Cucurbita rootstocks with different ethylene production and sensitivity, confirmed that, as occurs in other cucurbit species, ethylene is required to arrest the development of stamens in the female flower. Nevertheless, in watermelon ethylene inhibits the transition from male to female flowering and reduces the number of pistillate flowers per plant, which runs contrary to findings in other cucurbit species. The use of Cucurbita rootstocks with elevated ethylene production delayed the production of female flowers but reduced the number of bisexual flowers, which is associated with a reduced fruit set and altered fruit shape. PMID:25463265

  18. Deficiency in DGCR8-dependent canonical microRNAs causes infertility due to multiple abnormalities during uterine development in mice.

    PubMed

    Kim, Yeon Sun; Kim, Hye-Ryun; Kim, Hyongbum; Yang, Seung Chel; Park, Mira; Yoon, Jung Ah; Lim, Hyunjung J; Hong, Seok-Ho; DeMayo, Francesco J; Lydon, John P; Choi, Youngsok; Lee, Dong Ryul; Song, Haengseok

    2016-01-01

    DGCR8 is an RNA-binding protein that interacts with DROSHA to produce pre-microRNA in the nucleus, while DICER generates not only mature microRNA, but also endogenous small interfering RNAs in the cytoplasm. Here, we produced Dgcr8 conditional knock-out mice using progesterone receptor (PR)-Cre (Dgcr8(d/d)) and demonstrated that canonical microRNAs dependent on the DROSHA-DGCR8 complex are required for uterine development as well as female fertility in mice. Adult Dgcr8(d/d) females neither underwent regular reproductive cycles nor produced pups, whereas administration of exogenous gonadotropins induced normal ovulation in these mice. Interestingly, immune cells associated with acute inflammation aberrantly infiltrated into reproductive organs of pregnant Dgcr8(d/d) mice. Regarding uterine development, multiple uterine abnormalities were noticeable at 4 weeks of age when PR is significantly increased, and the severity of these deformities increased over time. Gland formation and myometrial layers were significantly reduced, and the stromal cell compartment did not expand and became atrophic during uterine development in these mice. These results were consistent with aberrantly reduced stromal cell proliferation and completely failed decidualization. Collectively, we suggest that DGCR8-dependent canonical microRNAs are essential for uterine development and physiological processes such as proper immune modulation, reproductive cycle, and steroid hormone responsiveness in mice. PMID:26833131

  19. Deficiency in DGCR8-dependent canonical microRNAs causes infertility due to multiple abnormalities during uterine development in mice

    PubMed Central

    Kim, Yeon Sun; Kim, Hye-Ryun; Kim, Hyongbum; Yang, Seung Chel; Park, Mira; Yoon, Jung Ah; Lim, Hyunjung J.; Hong, Seok-Ho; DeMayo, Francesco J.; Lydon, John P.; Choi, Youngsok; Lee, Dong Ryul; Song, Haengseok

    2016-01-01

    DGCR8 is an RNA-binding protein that interacts with DROSHA to produce pre-microRNA in the nucleus, while DICER generates not only mature microRNA, but also endogenous small interfering RNAs in the cytoplasm. Here, we produced Dgcr8 conditional knock-out mice using progesterone receptor (PR)-Cre (Dgcr8d/d) and demonstrated that canonical microRNAs dependent on the DROSHA-DGCR8 complex are required for uterine development as well as female fertility in mice. Adult Dgcr8d/d females neither underwent regular reproductive cycles nor produced pups, whereas administration of exogenous gonadotropins induced normal ovulation in these mice. Interestingly, immune cells associated with acute inflammation aberrantly infiltrated into reproductive organs of pregnant Dgcr8d/d mice. Regarding uterine development, multiple uterine abnormalities were noticeable at 4 weeks of age when PR is significantly increased, and the severity of these deformities increased over time. Gland formation and myometrial layers were significantly reduced, and the stromal cell compartment did not expand and became atrophic during uterine development in these mice. These results were consistent with aberrantly reduced stromal cell proliferation and completely failed decidualization. Collectively, we suggest that DGCR8-dependent canonical microRNAs are essential for uterine development and physiological processes such as proper immune modulation, reproductive cycle, and steroid hormone responsiveness in mice. PMID:26833131

  20. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

    PubMed Central

    Paciorkowski, Alex R; Thio, Liu Lin; Rosenfeld, Jill A; Gajecka, Marzena; Gurnett, Christina A; Kulkarni, Shashikant; Chung, Wendy K; Marsh, Eric D; Gentile, Mattia; Reggin, James D; Wheless, James W; Balasubramanian, Sandhya; Kumar, Ravinesh; Christian, Susan L; Marini, Carla; Guerrini, Renzo; Maltsev, Natalia; Shaffer, Lisa G; Dobyns, William B

    2011-01-01

    Infantile spasms (ISS) are an epilepsy disorder frequently associated with severe developmental outcome and have diverse genetic etiologies. We ascertained 11 subjects with ISS and novel copy number variants (CNVs) and combined these with a new cohort with deletion 1p36 and ISS, and additional published patients with ISS and other chromosomal abnormalities. Using bioinformatics tools, we analyzed the gene content of these CNVs for enrichment in pathways of pathogenesis. Several important findings emerged. First, the gene content was enriched for the gene regulatory network involved in ventral forebrain development. Second, genes in pathways of synaptic function were overrepresented, significantly those involved in synaptic vesicle transport. Evidence also suggested roles for GABAergic synapses and the postsynaptic density. Third, we confirm the association of ISS with duplication of 14q12 and maternally inherited duplication of 15q11q13, and report the association with duplication of 21q21. We also present a patient with ISS and deletion 7q11.3 not involving MAGI2. Finally, we provide evidence that ISS in deletion 1p36 may be associated with deletion of KLHL17 and expand the epilepsy phenotype in that syndrome to include early infantile epileptic encephalopathy. Several of the identified pathways share functional links, and abnormalities of forebrain synaptic growth and function may form a common biologic mechanism underlying both ISS and autism. This study demonstrates a novel approach to the study of gene content in subjects with ISS and copy number variation, and contributes further evidence to support specific pathways of pathogenesis. PMID:21694734

  1. Maternal toxicity, embryolethality and abnormal fetal development in CD-1 mice following one oral dose of T-2 toxin.

    PubMed

    Rousseaux, C G; Schiefer, H B

    1987-08-01

    An experiment was undertaken to determine the teratogenic effect of oral administration of T-2 toxin, a trichothecene mycotoxin. Firstly, a dose response study using 0, 0.5, 1.0, 2.0, 3.0, 3.5 and 4.0 mg/kg T-2 toxin in propylene glycol, on day 9 of pregnancy, was undertaken. Maternal deaths and toxicity was noted in the 4.0 and 3.5 mg/kg groups post-toxin administration. These groups gained less weight throughout gestation than the rest of the groups, because no fetuses were found in the 4.0 mg/kg group and the 3.5 mg/kg group had significantly fewer fetuses than the remaining groups. The total fetal weight was similar among all groups with fetuses, and normal sex ratio of offspring was seen. More major and minor defects were seen in the 3.0 mg/kg T-2 toxin treated group than any other group. Secondly, a day response trial using a single dose of 3.0 mg/kg T-2 toxin given on either days 6, 7, 8, 10, 11 or 12 of gestation was undertaken. Maternal mortality, with placental hemorrhage, was observed. Fetal loss was greater in the T-2 toxin treated groups than in the starved controls. The greatest number of dead term fetuses was seen in mice treated on day 9 of gestation. Normal sex ratios were present in the offspring. Major skeletal defects were more numerous in mice treated on day 7 of gestation, whereas minor defects, retardations and variants were more common in mice treated on day 8. It was concluded that a single oral dose of T-2 toxin in propylene glycol is primarily maternotoxic and embryolethal, and that defective development was possibly secondary to maternal toxicity. PMID:3624788

  2. Electron beam irradiation induces abnormal development and the stabilization of p53 protein of American serpentine leafminer, Liriomyza trifolii (Burgess)

    NASA Astrophysics Data System (ADS)

    Koo, Hyun-Na; Yun, Seung-Hwan; Yoon, Changmann; Kim, Gil-Hah

    2012-01-01

    The American serpentine leafminer fly, Liriomyza trifolii (Burgess), is one of the most destructive polyphagous pests worldwide. In this study, we determined electron beam doses for inhibition of normal development of the leaf miner and investigated the effect of electron beam irradiation on DNA damage and p53 stability. Eggs (0-24 h old), larvae (2nd instar), puparia (0-24 h old after pupariation) and adults (24 h after emergence) were irradiated with increasing doses of electron beam irradiation (six levels between 30 and 200 Gy). At 150 Gy, the number of adults that developed from irradiated eggs, larvae and puparia was lower than in the untreated control. Fecundity and egg hatchability decreased depending on the doses applied. Reciprocal crosses between irradiated and unirradiated flies demonstrated that males were more radiotolerant than females. Adult longevity was not affected in all stages. The levels of DNA damage in L. trifolii adults were evaluated using the alkaline comet assay. Our results indicate that electron beam irradiation increased levels of DNA damage in a dose-dependent manner. Moreover, low doses of electron beam irradiation led to the rapid appearance of p53 protein within 6 h; however, it decreased after exposure to high doses (150 Gy and 200 Gy). These results suggest that electron beam irradiation induced not only abnormal development and reproduction but also p53 stability caused by DNA damage in L. trifolii. We conclude that a minimum dose of 150 Gy should be sufficient for female sterilization of L. trifolii.

  3. Silencing Abnormal Wing Disc Gene of the Asian Citrus Psyllid, Diaphorina citri Disrupts Adult Wing Development and Increases Nymph Mortality

    PubMed Central

    El-Hawary, Ibrahim; Gowda, Siddarame; Killiny, Nabil

    2013-01-01

    Huanglongbing (HLB) causes considerable economic losses to citrus industries worldwide. Its management depends on controlling of the Asian citrus Psyllid (ACP), the vector of the bacterium, Candidatus Liberibacter asiaticus (CLas), the causal agent of HLB. Silencing genes by RNA interference (RNAi) is a promising tool to explore gene functions as well as control pests. In the current study, abnormal wing disc (awd) gene associated with wing development in insects is used to interfere with the flight of psyllids. Our study showed that transcription of awd is development-dependent and the highest level was found in the last instar (5th) of the nymphal stage. Micro-application (topical application) of dsRNA to 5th instar of nymphs caused significant nymphal mortality and adult wing-malformation. These adverse effects in ACP were positively correlated with the amounts of dsRNA used. A qRT-PCR analysis confirmed the dsRNA-mediated transcriptional down-regulation of the awd gene. Significant down-regulation was required to induce a wing-malformed phenotype. No effect was found when dsRNA-gfp was used, indicating the specific effect of dsRNA-awd. Our findings suggest a role for awd in ACP wing development and metamorphosis. awd could serve as a potential target for insect management either via direct application of dsRNA or by producing transgenic plants expressing dsRNA-awd. These strategies will help to mitigate HLB by controlling ACP. PMID:23734251

  4. Development of Methods of Genotyping Sex for use in Endocrine Disruption Assays

    EPA Science Inventory

    Endocrine disrupting compounds have been shown to completely sex reverse both male and female individuals in amphibian, avian, fish, invertebrate, and reptile species. In many cases these sex-reversed individuals are morphologically indistinguishable from normal individuals. De...

  5. Development of a real-time PCR method for rapid sexing of human preimplantation embryos.

    PubMed

    Martinhago, Cd; Vagnini, Ld; Petersen, Cg; Mauri, Al; Baruffi, Rl; de Oliveira, Rm; Franco, Jg

    2010-01-01

    Genes on the X chromosome are known to be responsible for more than 200 hereditary diseases. After IVF, the simple selection of embryo sex before uterine transfer can prevent the occurrence of affected offspring among couples at risk for these genetic disorders. The aim of this investigation was to develop a rapid method of preimplantation genetic diagnosis (PGD) using real-time polymerase chain reaction (PCR) for the sexing of human embryos, and to compare it to the fluorescence in-situ hybridization technique, considered to be the gold standard. After biopsies were obtained from 40 surplus non-viable embryos for transfer, a total of 98 blastomeres were analysed. It was possible to analyse 24 embryos (60%) by both techniques, generating a total of 70 blastomeres (35 per technique), while 28 blastomeres from 16 embryos (40%) were analysed only by real-time PCR. A rapid and safe method was developed in the present study for the sexual diagnosis of a single human cell (blastomere and buccal cell) using the emerging technology of real-time PCR. PMID:20158991

  6. Children with disorders of sex development: A qualitative study of early parental experience

    PubMed Central

    2011-01-01

    Background Clinical research on psychological aspects of disorders of sex development (DSD) has focused on psychosexual differentiation with relatively little attention directed toward parents' experiences of early clinical management and their influence on patient and family psychosocial adaptation. Objectives To characterize parental experiences in the early clinical care of children born with DSD. Study Design Content analysis of interviews with parents (n = 41) of 28 children, newborn to 6 years, with DSD. Results Four major domains emerged as salient to parents: (1) the gender assignment process, (2) decisions regarding genital surgery, (3) disclosing information about their child's DSD, and (4) interacting with healthcare providers. Findings suggested discordance between scientific and parental understandings of the determinants of "sex" and "gender." Parents' expectations regarding the benefits of genital surgery appear largely met; however, parents still had concerns about their child's future physical, social and sexual development. Two areas experienced by many parents as particularly stressful were: (1) uncertainties regarding diagnosis and optimal management, and (2) conflicts between maintaining privacy versus disclosing the condition to access social support. Conclusions Parents' experiences and gaps in understanding can be used to inform the clinical care of patients with DSD and their families. Improving communication between parents and providers (and between parents and their support providers) throughout the early clinical management process may be important in decreasing stress and improving outcomes for families of children with DSD. PMID:21992519

  7. Parental Reports of Stigma Associated with Child's Disorder of Sex Development

    PubMed Central

    Rolston, Aimee M.; Vilain, Eric; Sandberg, David E.

    2015-01-01

    Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. DSD-associated stigma is purported to threaten positive psychosocial adaptation. Parental perceptions of DSD-related stigma were assessed in 154 parents of 107 children (newborn–17 years) questionnaire comprising two scales, child-focused and parent-focused, and three subscales, perceived stigmatization, future worries, and feelings about the child's condition. Medical chart excerpts identified diagnoses and clinical management details. Stigma scale scores were generally low. Parents of children with DSD reported less stigma than parents of children with epilepsy; however, a notable proportion rated individual items in the moderate to high range. Stigma was unrelated to child's age or the number of DSD-related surgeries. Child-focused stigma scores exceeded parent-focused stigma and mothers reported more stigma than fathers, with a moderate level of agreement. Within 46,XY DSD, reported stigma was higher for children reared as girls. In conclusion, in this first quantitative study of ongoing experiences, DSD-related stigma in childhood and adolescence, while limited in the aggregate, is reported at moderate to high levels in specific areas. Because stigma threatens positive psychosocial adaptation, systematic screening for these concerns should be considered and, when reported, targeted for psychoeducational counseling. PMID:25918529

  8. The Development of Sex-Gender Constancy Among Children in Four Cultures.

    ERIC Educational Resources Information Center

    Munroe, Ruth H.; Munroe, Robert L.

    The study examines the acquisition of gender constancy in children as it relates to cultural, socioenvironmental, or individual differences. Gender constancy refers to the stages from simple identification of biological sex of self and others, to the understanding that one's sex is stable over time, and to comprehension of one's sex as consistent…

  9. Blocking Endogenous Leukemia Inhibitory Factor During Placental Development in Mice Leads to Abnormal Placentation and Pregnancy Loss

    PubMed Central

    Winship, Amy; Correia, Jeanne; Krishnan, Tara; Menkhorst, Ellen; Cuman, Carly; Zhang, Jian-Guo; Nicola, Nicos A.; Dimitriadis, Evdokia

    2015-01-01

    The placenta forms the interface between the maternal and fetal circulation and is critical for the establishment of a healthy pregnancy. Specialized trophoblast cells derived from the embryonic trophectoderm play a pivotal role in the establishment of the placenta. Leukemia inhibitory factor (LIF) is one of the predominant cytokines present in the placenta during early pregnancy. LIF has been shown to regulate trophoblast adhesion and invasion in vitro, however its precise role in vivo is unknown. We hypothesized that LIF would be required for normal placental development in mice. LIF and LIFRα were immunolocalized to placental trophoblasts and fetal vessels in mouse implantation sites during mid-gestation. Temporally blocking LIF action during specific periods of placental development via intraperitoneal administration of our specific LIFRα antagonist, PEGLA, resulted in abnormal placental trophoblast and vascular morphology and reduced activated STAT3 but not ERK. Numerous genes regulating angiogenesis and oxidative stress were altered in the placenta in response to LIF inhibition. Pregnancy viability was also significantly compromised in PEGLA treated mice. Our data suggest that LIF plays an important role in placentation in vivo and the maintenance of healthy pregnancy. PMID:26272398

  10. Blocking Endogenous Leukemia Inhibitory Factor During Placental Development in Mice Leads to Abnormal Placentation and Pregnancy Loss.

    PubMed

    Winship, Amy; Correia, Jeanne; Krishnan, Tara; Menkhorst, Ellen; Cuman, Carly; Zhang, Jian-Guo; Nicola, Nicos A; Dimitriadis, Evdokia

    2015-01-01

    The placenta forms the interface between the maternal and fetal circulation and is critical for the establishment of a healthy pregnancy. Specialized trophoblast cells derived from the embryonic trophectoderm play a pivotal role in the establishment of the placenta. Leukemia inhibitory factor (LIF) is one of the predominant cytokines present in the placenta during early pregnancy. LIF has been shown to regulate trophoblast adhesion and invasion in vitro, however its precise role in vivo is unknown. We hypothesized that LIF would be required for normal placental development in mice. LIF and LIFR? were immunolocalized to placental trophoblasts and fetal vessels in mouse implantation sites during mid-gestation. Temporally blocking LIF action during specific periods of placental development via intraperitoneal administration of our specific LIFR? antagonist, PEGLA, resulted in abnormal placental trophoblast and vascular morphology and reduced activated STAT3 but not ERK. Numerous genes regulating angiogenesis and oxidative stress were altered in the placenta in response to LIF inhibition. Pregnancy viability was also significantly compromised in PEGLA treated mice. Our data suggest that LIF plays an important role in placentation in vivo and the maintenance of healthy pregnancy. PMID:26272398

  11. Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.

    PubMed

    Rush, Eric T; Schaefer, G Bradley; Sanger, Warren G; Coccia, Peter F

    2015-01-01

    Sex chromosome aneuploidies range in incidence from rather common to exceedingly rare and have a variable phenotype. We report 2 patients with sex chromosome aneuploidies who developed severe aplastic anemia requiring treatment. The first patient had tetrasomy X (48,XXXX) and presented at 9 years of age, and the second patient had trisomy X (47,XXX) and presented at 5 years of age. Although aplastic anemia has been associated with other chromosomal abnormalities, sex chromosome abnormalities have not been traditionally considered a risk factor for this condition. A review of the literature reveals that at least one other patient with a sex chromosome aneuploidy (45,X) has suffered from aplastic anemia and that other autosomal chromosomal anomalies have been described. Despite the uncommon nature of each condition, it is possible that the apparent association is coincidental. A better understanding of the genetic causes of aplastic anemia remains important. PMID:26571231

  12. Zebrafish sex differentiation and gonad development after exposure to 17?-ethinylestradiol, fadrozole and their binary mixture: A stereological study.

    PubMed

    Luzio, Ana; Monteiro, Sandra M; Garcia-Santos, Sofia; Rocha, Eduardo; Fontaínhas-Fernandes, António A; Coimbra, Ana M

    2015-09-01

    Current knowledge on zebrafish (Danio rerio) sex determination suggests that this trait has a polygenic genetic basis, although environmental factors, such as endocrine disrupting chemicals (EDC), may also be involved in modeling or disturbing the species sex differentiation and development. This study aimed to assess how sex steroids imbalance triggers impact on sex differentiation and gonad development in zebrafish. Fish where exposed to an estrogen (EE2, i.e. 17?-ethinylestradiol, 4ng/L), to an inhibitor of estrogen synthesis (Fad, i.e. fadrozole, 50?g/L) or to their binary mixture (Mix-EE2+ Fad, 4ng/L+50?g/L), from 2h to 60 days post-fertilization (dpf). Afterwards, a quantitative (stereological) analysis using light microscopy, based on systematic sampling, was made at 35 and 60dpf, to identify alterations on gonad differentiation and development. During the sex differentiation period, our histological data showed that not all zebrafish males develop a "juvenile ovary", contrarily to what is currently taken for granted. Furthermore, the stereological analysis suggests that EE2 alone enhanced both zebrafish growth and gonad development. On the other hand, exposure to Fad affected the sexual development in zebrafish, inducing masculinization of the specimens, with some degree of intersex observed in males. In addition, the binary mixture allowed identifying sex-dependent roles of steroid hormones in the general growth and gonad development of zebrafish, with estrogens acting as growth promoters in females and being essential for ovary development. Data further support that sex-specific and single EDC impact studies are important, but clearly not sufficient to understand what may occur in the environment. PMID:26240953

  13. Predictors of posttraumatic stress in parents of children diagnosed with a disorder of sex development.

    PubMed

    Pasterski, Vickie; Mastroyannopoulou, Kiki; Wright, Deborah; Zucker, Kenneth J; Hughes, Ieuan A

    2014-02-01

    The aims of the current study were twofold: (1) to assess the prevalence/severity of posttraumatic stress symptoms (PTSS) as well as cognitive and emotional responses in parents whose children were diagnosed with a disorder of sex development (DSD); and (2) to assess factors which contributed to PTSS. We hypothesized that parents would show elevated levels of PTSS and that negative cognitive and/or emotional responses would be predictive. Participants were parents of children diagnosed with a DSD. Thirty-six mothers and 11 fathers completed a measure of posttraumatic stress and reported difficulties in the domains of cognition (e.g., confusion) and emotion (e.g., grief). Using multiple regression, we determined factors contributing to parental PTSS. Reported PTSS was high: 31 % of mothers and 18 % of fathers met the threshold for caseness for Posttraumatic Stress Disorder. Regression included: child sex, parent sex, child age at diagnosis, years since diagnosis, genital ambiguity, father occupation, cognitive confusion, and emotional distress. Only cognitive confusion contributed significantly to variance in PTSS. Parents of children with DSD may experience the diagnosis as traumatic, evidenced by high rates of PTSS in the current report. Assessment of reactions to their children's diagnoses revealed that cognitive confusion, and not emotional distress, predicted PTSS. In this case, direct cognitive interventions may be applicable. Though psychological support is widely recommended, no detailed intervention has been offered. Our findings suggest that we may directly apply models successful in other areas of pediatrics, such as pediatric oncology. Future studies may assess the usefulness of such an intervention. PMID:24085468

  14. Abnormal immune system development and function in schizophrenia helps reconcile diverse findings and suggests new treatment and prevention strategies.

    PubMed

    Anders, Sherry; Kinney, Dennis K

    2015-08-18

    Extensive research implicates disturbed immune function and development in the etiology and pathology of schizophrenia. In addition to reviewing evidence for immunological factors in schizophrenia, this paper discusses how an emerging model of atypical immune function and development helps explain a wide variety of well-established - but puzzling - findings about schizophrenia. A number of theorists have presented hypotheses that early immune system programming, disrupted by pre- and perinatal adversity, often combines with abnormal brain development to produce schizophrenia. The present paper focuses on the hypothesis that disruption of early immune system development produces a latent immune vulnerability that manifests more fully after puberty, when changes in immune function and the thymus leave individuals more susceptible to infections and immune dysfunctions that contribute to schizophrenia. Complementing neurodevelopmental models, this hypothesis integrates findings on many contributing factors to schizophrenia, including prenatal adversity, genes, climate, migration, infections, and stress, among others. It helps explain, for example, why (a) schizophrenia onset is typically delayed until years after prenatal adversity, (b) individual risk factors alone often do not lead to schizophrenia, and (c) schizophrenia prevalence rates actually tend to be higher in economically advantaged countries. Here we discuss how the hypothesis explains 10 key findings, and suggests new, potentially highly cost-effective, strategies for treatment and prevention of schizophrenia. Moreover, while most human research linking immune factors to schizophrenia has been correlational, these strategies provide ethical ways to experimentally test in humans theories about immune function and schizophrenia. This article is part of a Special Issue entitled SI: Neuroimmunology in Health And Disease. PMID:25736181

  15. Sex determination in mythology and history.

    PubMed

    Mittwoch, Ursula

    2005-02-01

    The history of ideas on how the sexes became divided spans at least three thousand years. The biblical account of the origin of Eve, and the opinions of the philosophers of classical Greece, have unexpected bearings on present-day ideas. The scientific study of sex determination can be said to have begun in the 17th century with the discovery of spermatozoa, but the origin and function of the "spermatic animalcules" eluded investigators until 1841. The mammalian egg was discovered in 1827, and in the last quarter of the century fertilization was observed. The view current at that time, that sex determination was under environmental control, gave way to the idea of chromosomal determination in the first quarter of the 20th century. The study of human and other mammalian chromosomes during the third quarter of the century, and the discovery of sex-chromosome abnormalities, emphasized the importance of the Y chromosome for male sex determination. The last quarter of the century witnessed a hunt for the "testis-determining" gene, thought to be responsible for the differentiation of Sertoli cells, and culminating in the isolation of SRY (Sry in the mouse). However, an increasing number of additional genes and growth factors were found to be required for the establishment of male sex. During the same period evidence emerged that male development was accompanied by enhanced growth, both of gonads and whole embryos. An unexpected finding was the demonstration of temperature-dependent sex determination in reptiles. With the advent of the 21st century, it was shown that Sry induces cell proliferation in fetal mouse gonads, and it has been suggested that male sex differentiation in mammals requires a higher metabolic rate. These insights could lead to a better understanding and improved treatment of abnormalities of sexual development. PMID:16544030

  16. Abnormalities of the external genitalia.

    PubMed

    Baldinger, Lauren; Mudegowdar, Abhijith; Shukla, Aseem R

    2014-09-01

    Abnormalities of the external genitalia span the spectrum from subtle findings of limited clinical significance to profound anomalies that call into question such essential questions as sex determination. In addition, missing a diagnosis of congenital adrenal hyperplasia in a newborn female child with virilized external genitalia can result in near-term mortality, whereas a large inguinal hernia could present rapidly with incarceration if undetected. To that end, this article seeks to present a survey of commonly encountered genital abnormalities while highlighting those scenarios that require multidisciplinary interventions. PMID:25155737

  17. The European disorder of sex development registry: a virtual research environment.

    PubMed

    Ahmed, S F; Rodie, M; Jiang, J; Sinnott, R O

    2010-09-01

    Disorders of sex development (DSD) are a rare group of conditions which require further research. Effective research into understanding the aetiology, as well as long-term outcome of these rare conditions, requires multicentre collaboration often across national boundaries. The EU-funded EuroDSD programme (www.eurodsd.eu) is one such collaboration involving clinical centres and clinical and genetic experts across Europe. At the heart of the EuroDSD collaboration is a European DSD registry and a targeted virtual research environment (VRE) that supports the sharing of DSD data. Security, ethics and information governance are cornerstones of this infrastructure. This paper describes the infrastructure that has been developed, the inherent challenges in security, availability and dependability that must be overcome for the enterprise to succeed and provides a sample of the data that are stored in the registry along with a summary analysis of the current data sets. PMID:20501980

  18. Body image and sexuality in Indonesian adults with a disorder of sex development (DSD).

    PubMed

    Ediati, Annastasia; Juniarto, Achmad Zulfa; Birnie, Erwin; Drop, Stenvert L S; Faradz, Sultana M H; Dessens, Arianne B

    2015-01-01

    In Indonesia, disorders of sex development (DSDs) are not well recognized and medical care for affected individuals is scarce. Consequently, many patients live with ambiguous genitalia and appearance. We compared reported outcomes on body image, sexual functioning, and sexual orientation of 39 adults with DSDs (aged 18 to 41) and 39 healthy controls matched for gender, age, and residential setting (urban, suburban, rural). Differences in gender and treatment status (treated or untreated) were also explored. On body image, adults with DSDs reported dissatisfaction with sex-related body parts. Compared to the matched controls, women with DSDs reported greater sexual distress, and men with DSDs reported lower erectile and ejaculation frequencies, and more dissatisfaction with sexual life but not with sexual desire and activities. Men with DSDs who had undergone genital surgery reported higher erectile and ejaculation frequencies than untreated men. More women than men in the DSDs group reported a nonexclusive heterosexual orientation. DSDs and infertility had a great impact on sexuality. Fear of ostracism complicated DSD acceptance. Findings were compared to those of Western studies. Based on these results, education about DSDs and their psychosexual consequences may help reduce the sexual distress and problems in adults with DSDs and improve quality of life. PMID:24144298

  19. Role of Environment and Sex Differences in the Development of Autoimmune Diseases: A Roundtable Meeting Report

    PubMed Central

    Mallampalli, Monica P.; Davies, Erika; Wood, Debra; Robertson, Hillary; Polato, Federica

    2013-01-01

    Abstract Autoimmune diseases (ADs) impose substantial health and financial burdens in the United States and in many parts of the world. Women are disproportionately affected by many of these disorders, which often contribute to lifelong disabilities. While the number of patients with some ADs appears to be rising, the complexities of conducting epidemiological studies prevent a thorough understanding of the prevalence and incidence of these various conditions. Research on environmental influences of these illnesses is limited, although they are generally hypothesized to result from the interaction of environmental agents in genetically susceptible individuals. Further, there is little known regarding the role of sex and gender in the environmentally influenced mechanisms leading to the development of AD. To address these issues, particularly the roles of environment and sex and gender in ADs and the factors that contribute to the rise in ADs, the Society for Women's Health Research convened an interdisciplinary roundtable of experts from academia, medicine, and government agencies to share their expertise, address knowledge gaps in research, and propose future research recommendations. PMID:23829184

  20. Sex differences in the development of airway epithelial tolerance to naphthalene

    PubMed Central

    Sutherland, K. M.; Edwards, P. C.; Combs, T. J.

    2012-01-01

    Exposure to air pollution has been linked to pulmonary diseases. Naphthalene (NA), an abundant polycyclic aromatic hydrocarbon in tobacco smoke and urban air, is a model toxicant for air pollution effects in the lung. Repeated exposures to NA in male mice result in tolerance, defined as the emergence of a resistant cell phenotype after prior exposure. Tolerance has not been studied in females. Females have sex differences in airway epithelial responses and in the prevalence of certain airway diseases. Male and female mice were exposed to a tolerance-inducing regimen of NA, and lungs were examined by airway level to characterize the cellular changes associated with repeated NA exposure and to assess the expression of genes and proteins involved in NA bioactivation and detoxification. The airway epithelium in treated males resembled that of controls. Females in the tolerant state were characterized by dense populations of ciliated cells in midlevel, distal, and bifurcating airways and a lower abundance of Clara cells at all airway levels. Cytotoxicity following a secondary challenge dose was also greater in females than males. Furthermore, females had decreased gene/protein expression of CYP2F2, a P-450 that metabolizes NA to a toxic epoxide, and glutamate-cysteine ligase, the rate-limiting enzyme in glutathione synthesis, than NA-tolerant males at all airway levels examined. We conclude that, while females develop tolerance, sex differences exist in the tolerant state by airway level, and females remain more susceptible than males to repeated exposures to NA. PMID:22003090

  1. An Autopsied Case of Malignant Sarcomatoid Pleural Mesothelioma in Which Chest Pain Developed Several Months Earlier without Abnormality on Imaging

    PubMed Central

    Yaguchi, Daizo; Ichikawa, Motoshi; Inoue, Noriko; Kobayashi, Daisuke; Matsuura, Akinobu; Shizu, Masato; Imai, Naoyuki; Watanabe, Kazuko

    2015-01-01

    The patient experienced chest pain for about 7 months, but a diagnosis could not be made until after death. He was diagnosed with malignant sarcomatoid pleural mesothelioma on autopsy. In this case report, difficult aspects of the diagnosis are discussed. The 70-year-old Japanese man was a driver who transported ceramic-related products. Right chest pain developed in July 2013, but no abnormality was detected on a chest computed tomography (CT) performed in September 2013, and the pain was managed as right intercostal neuralgia. A chest CT performed in late October 2013 revealed a right pleural effusion, and the patient was referred to our hospital in early November 2013. Thoracentesis was performed, but the cytology was negative, and no diagnosis could be made. Close examination was postponed because the patient developed a subarachnoid hemorrhage. He underwent 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET) after discharge from the neurosurgery department, and extensive right pleural thickening and 18F-FDG accumulation in this region were observed. Based on these findings, malignant pleural mesothelioma was suspected, and a thoracoscopy was performed under local anesthesia in early December 2013, but no definite diagnosis could be made. The patient selected best supportive care and died about 7 months after the initial development of right chest pain. The disease was definitively diagnosed as malignant sarcomatoid pleural mesothelioma by a pathological autopsy. When chronic chest pain of unknown cause is observed and past exposure to asbestos is suspected, actions to prevent delay in diagnosis should be taken, including testing for suspicion of malignant pleural mesothelioma. PMID:26600776

  2. The role of sexually explicit material in the sexual development of same-sex-attracted Black adolescent males.

    PubMed

    Arrington-Sanders, Renata; Harper, Gary W; Morgan, Anthony; Ogunbajo, Adedotun; Trent, Maria; Fortenberry, J Dennis

    2015-04-01

    Sexually explicit material (SEM) (including Internet, video, and print) may play a key role in the lives of Black same-sex sexually active youth by providing the only information to learn about sexual development. There is limited school- and/or family-based sex education to serve as models for sexual behaviors for Black youth. We describe the role SEM plays in the sexual development of a sample of Black same-sex attracted (SSA) young adolescent males ages 15-19. Adolescents recruited from clinics, social networking sites, and through snowball sampling were invited to participate in a 90-min, semi-structured qualitative interview. Most participants described using SEM prior to their first same-sex sexual experience. Participants described using SEM primarily for sexual development, including learning about sexual organs and function, the mechanics of same-gender sex, and to negotiate one's sexual identity. Secondary functions were to determine readiness for sex; to learn about sexual performance, including understanding sexual roles and responsibilities (e.g., "top" or "bottom"); to introduce sexual performance scripts; and to develop models for how sex should feel (e.g., pleasure and pain). Youth also described engaging in sexual behaviors (including condom non-use and/or swallowing ejaculate) that were modeled on SEM. Comprehensive sexuality education programs should be designed to address the unmet needs of young, Black SSA men, with explicit focus on sexual roles and behaviors that may be inaccurately portrayed and/or involve sexual risk-taking (such as unprotected anal intercourse and swallowing ejaculate) in SEM. This work also calls for development of Internet-based HIV/STI prevention strategies targeting young Black SSA men who may be accessing SEM. PMID:25677334

  3. The Role of Sexually Explicit Material (SEM) in the Sexual Development of Black Young Same-Sex-Attracted Men

    PubMed Central

    Morgan, Anthony; Ogunbajo, Adedotun; Trent, Maria; Harper, Gary W.; Fortenberry, J. Dennis

    2015-01-01

    Sexually explicit material (SEM) (including Internet, video, and print) may play a key role in the lives of Black same-sex sexually active youth by providing the only information to learn about sexual development. There is limited school-and/or family-based sex education to serve as models for sexual behaviors for Black youth. We describe the role SEM plays in the sexual development of a sample of Black same-sex attracted (SSA) young adolescent men ages 15–19. Adolescents recruited from clinics, social networking sites, and through snowball sampling were invited to participate in a 90-min, semi-structured qualitative interview. Most participants described using SEM prior to their first same-sex sexual experience. Participants described using SEM primarily for sexual development, including learning about sexual organs and function, the mechanics of same-gender sex, and to negotiate one’s sexual identity. Secondary functions were to determine readiness for sex; to learn about sexual performance, including understanding sexual roles and responsibilities (e.g., “top” or “bottom”); to introduce sexual performance scripts; and to develop models for how sex should feel (e.g., pleasure and pain). Youth also described engaging in sexual behaviors (including condom non-use and/or swallowing ejaculate) that were modeled on SEM. Comprehensive sexuality education programs should be designed to address the unmet needs of young, Black SSA young men, with explicit focus on sexual roles and behaviors that may be inaccurately portrayed and/or involve sexual risk-taking (such as unprotected anal intercourse and swallowing ejaculate) in SEM. This work also calls for development of Internet-based HIV/STI prevention strategies targeting young Black SSA men who maybe accessing SEM. PMID:25677334

  4. Foxl2 functions in sex determination and histogenesis throughout mouse ovary development

    PubMed Central

    Garcia-Ortiz, José Elias; Pelosi, Emanuele; Omari, Shakib; Nedorezov, Timur; Piao, Yulan; Karmazin, Jesse; Uda, Manuela; Cao, Antonio; Cole, Steve W; Forabosco, Antonino; Schlessinger, David; Ottolenghi, Chris

    2009-01-01

    Background Partial loss of function of the transcription factor FOXL2 leads to premature ovarian failure in women. In animal models, Foxl2 is required for maintenance, and possibly induction, of female sex determination independently of other critical genes, e.g., Rspo1. Here we report expression profiling of mouse ovaries that lack Foxl2 alone or in combination with Wnt4 or Kit/c-Kit. Results Following Foxl2 loss, early testis genes (including Inhbb, Dhh, and Sox9) and several novel ovarian genes were consistently dysregulated during embryonic development. In the absence of Foxl2, expression changes affecting a large fraction of pathways were opposite those observed in Wnt4-null ovaries, reinforcing the notion that these genes have complementary actions in ovary development. Loss of one copy of Foxl2 revealed strong gene dosage sensitivity, with molecular anomalies that were milder but resembled ovaries lacking both Foxl2 alleles. Furthermore, a Foxl2 transgene disrupted embryonic testis differentiation and increased the levels of key female markers. Conclusion The results, including a comprehensive principal component analysis, 1) support the proposal of dose-dependent Foxl2 function and anti-testis action throughout ovary differentiation; and 2) identify candidate genes for roles in sex determination independent of FOXL2 (e.g., the transcription factors IRX3 and ZBTB7C) and in the generation of the ovarian reserve downstream of FOXL2 (e.g., the cadherin-domain protein CLSTN2 and the sphingomyelin synthase SGMS2). The gene inventory is a first step toward the identification of the full range of pathways with partly autonomous roles in ovary development, and thus provides a framework to analyze the genetic bases of female fertility. PMID:19538736

  5. Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.

    PubMed

    Reid, Shaina N; Ziermann, Janine M; Gondré-Lewis, Marjorie C

    2015-07-01

    Craniofacial malformations are common congenital defects caused by failed midline inductive signals. These midline defects are associated with exposure of the fetus to exogenous teratogens and with inborn genetic errors such as those found in Down, Patau, Edwards' and Smith-Lemli-Opitz syndromes. Yet, there are no studies that analyze contributions of synchronous neurocranial and neural development in these disorders. Here we present the first in-depth analysis of malformations of the basicranium of a holoprosencephalic (HPE) trisomy 18 (T18; Edwards' syndrome) fetus with synophthalmic cyclopia and alobar HPE. With a combination of traditional gross dissection and state-of-the-art computed tomography, we demonstrate the deleterious effects of T18 caused by a translocation at 18p11.31. Bony features included a single developmentally unseparated frontal bone, and complete dual absence of the anterior cranial fossa and ethmoid bone. From a superior view with the calvarium plates removed, there was direct visual access to the orbital foramen and hard palate. Both the eyes and the pituitary gland, normally protected by bony structures, were exposed in the cranial cavity and in direct contact with the brain. The middle cranial fossa was shifted anteriorly, and foramina were either missing or displaced to an abnormal location due to the absence or misplacement of its respective cranial nerve (CN). When CN development was conserved in its induction and placement, the respective foramen developed in its normal location albeit with abnormal gross anatomical features, as seen in the facial nerve (CNVII) and the internal acoustic meatus. More anteriorly localized CNs and their foramina were absent or heavily disrupted compared with posterior ones. The severe malformations exhibited in the cranial fossae, orbital region, pituitary gland and sella turcica highlight the crucial involvement of transcription factors such as TGIF, which is located on chromosome 18 and contributes to neural patterning, in the proper development of neural and cranial structures. Our study of a T18 specimen emphasizes the intricate interplay between bone and brain development in midline craniofacial abnormalities in general. PMID:26018729

  6. The trajectory of gray matter development in Broca’s area is abnormal in people who stutter

    PubMed Central

    Beal, Deryk S.; Lerch, Jason P.; Cameron, Brodie; Henderson, Rhaeling; Gracco, Vincent L.; De Nil, Luc F.

    2015-01-01

    The acquisition and mastery of speech-motor control requires years of practice spanning the course of development. People who stutter often perform poorly on speech-motor tasks thereby calling into question their ability to establish the stable neural motor programs required for masterful speech-motor control. There is evidence to support the assertion that these neural motor programs are represented in the posterior part of Broca’s area, specifically the left pars opercularis. Consequently, various theories of stuttering causation posit that the disorder is related to a breakdown in the formation of the neural motor programs for speech early in development and that this breakdown is maintained throughout life. To date, no study has examined the potential neurodevelopmental signatures of the disorder across pediatric and adult populations. The current study aimed to fill this gap in our knowledge. We hypothesized that the developmental trajectory of cortical thickness in people who stutter would differ across the lifespan in the left pars opercularis relative to a group of control participants. We collected structural magnetic resonance images from 116 males (55 people who stutter) ranging in age from 6 to 48 years old. Differences in cortical thickness across ages and between patients and controls were investigated in 30 brain regions previously implicated in speech-motor control. An interaction between age and group was found for the left pars opercularis only. In people who stutter, the pars opercularis did not demonstrate the typical maturational pattern of gradual gray matter thinning with age across the lifespan that we observed in control participants. In contrast, the developmental trajectory of gray matter thickness in other regions of interest within the neural network for speech-motor control was similar for both groups. Our findings indicate that the developmental trajectory of gray matter in left pars opercularis is abnormal in people who stutter. PMID:25784869

  7. Absence of the lysophosphatidic acid receptor LPA1 results in abnormal bone development and decreased bone mass?,??

    PubMed Central

    Gennero, Isabelle; Laurencin-Dalicieux, Sara; Conte-Auriol, Françoise; Briand-Mésange, Fabienne; Laurencin, Danielle; Rue, Jackie; Beton, Nicolas; Malet, Nicole; Mus, Marianne; Tokumura, Akira; Bourin, Philippe; Vico, Laurence; Brunel, Gérard; Oreffo, Richard O. C.; Chun, Jerold; Salles, Jean Pierre

    2013-01-01

    Lysophosphatidic acid (LPA) is a lipid mediator that acts in paracrine systems via interaction with a subset of G protein-coupled receptors (GPCRs). LPA promotes cell growth and differentiation, and has been shown to be implicated in a variety of developmental and pathophysiological processes. At least 6 LPA GPCRs have been identified to date: LPA1–LPA6. Several studies have suggested that local production of LPA by tissues and cells contributes to paracrine regulation, and a complex interplay between LPA and its receptors, LPA1 and LPA4, is believed to be involved in the regulation of bone cell activity. In particular, LPA1may activate both osteoblasts and osteoclasts. However, its role has not as yet been examined with regard to the overall status of bone in vivo. We attempted to clarify this role by defining the bone phenotype of LPA1(?/?) mice. These mice demonstrated significant bone defects and low bone mass, indicating that LPA1 plays an important role in osteogenesis. The LPA1(?/?) mice also presented growth and sternal and costal abnormalities, which highlights the specific roles of LPA1 during bone development. Microcomputed tomography and histological analysis demonstrated osteoporosis in the trabecular and cortical bone of LPA1(?/?) mice. Finally, bone marrow mesenchymal progenitors from these mice displayed decreased osteoblastic differentiation. These results suggest that LPA1 strongly influences bone development both qualitatively and quantitatively and that, in vivo, its absence results in decreased osteogenesis with no clear modification of osteoclasis. They open perspectives for a better understanding of the role of the LPA/LPA1 paracrine pathway in bone pathophysiology. PMID:21569876

  8. Development of a genetic sexing strain in Bactrocera carambolae (Diptera: Tephritidae) by introgression of sex sorting components from B. dorsalis, Salaya1 strain

    PubMed Central

    2014-01-01

    Background The carambola fruit fly, Bactrocera carambolae Drew & Hancock is a high profile key pest that is widely distributed in the southwestern ASEAN region. In addition, it has trans-continentally invaded Suriname, where it has been expanding east and southward since 1975. This fruit fly belongs to Bactrocera dorsalis species complex. The development and application of a genetic sexing strain (Salaya1) of B. dorsalis sensu stricto (s.s.) (Hendel) for the sterile insect technique (SIT) has improved the fruit fly control. However, matings between B. dorsalis s.s. and B. carambolae are incompatible, which hinder the application of the Salaya1 strain to control the carambola fruit fly. To solve this problem, we introduced genetic sexing components from the Salaya1 strain into the B. carambolae genome by interspecific hybridization. Results Morphological characteristics, mating competitiveness, male pheromone profiles, and genetic relationships revealed consistencies that helped to distinguish Salaya1 and B. carambolae strains. A Y-autosome translocation linking the dominant wild-type allele of white pupae gene and a free autosome carrying a recessive white pupae homologue from the Salaya1 strain were introgressed into the gene pool of B. carambolae. A panel of Y-pseudo-linked microsatellite loci of the Salaya1 strain served as markers for the introgression experiments. This resulted in a newly derived genetic sexing strain called Salaya5, with morphological characteristics corresponding to B. carambolae. The rectal gland pheromone profile of Salaya5 males also contained a distinctive component of B. carambolae. Microsatellite DNA analyses confirmed the close genetic relationships between the Salaya5 strain and wild B. carambolae populations. Further experiments showed that the sterile males of Salaya5 can compete with wild males for mating with wild females in field cage conditions. Conclusions Introgression of sex sorting components from the Salaya1 strain to a closely related B. carambolae strain generated a new genetic sexing strain, Salaya5. Morphology-based taxonomic characteristics, distinctive pheromone components, microsatellite DNA markers, genetic relationships, and mating competitiveness provided parental baseline data and validation tools for the new strain. The Salaya5 strain shows a close similarity with those features in the wild B. carambolae strain. In addition, mating competitiveness tests suggested that Salaya5 has a potential to be used in B. carambolae SIT programs based on male-only releases. PMID:25471905

  9. The Relationship between Personality Dimensions and Resiliency to Environmental Stress in Orange-Winged Amazon Parrots (Amazona amazonica), as Indicated by the Development of Abnormal Behaviors

    PubMed Central

    Cussen, Victoria A.; Mench, Joy A.

    2015-01-01

    Parrots are popular companion animals, but are frequently relinquished because of behavioral problems, including abnormal repetitive behaviors like feather damaging behavior and stereotypy. In addition to contributing to pet relinquishment, these behaviors are important as potential indicators of diminished psychological well-being. While abnormal behaviors are common in captive animals, their presence and/or severity varies between animals of the same species that are experiencing the same environmental conditions. Personality differences could contribute to this observed individual variation, as they are known risk factors for stress sensitivity and affective disorders in humans. The goal of this study was to assess the relationship between personality and the development and severity of abnormal behaviors in captive-bred orange-winged Amazon parrots (Amazona amazonica). We monitored between-individual behavioral differences in enrichment-reared parrots of known personality types before, during, and after enrichment deprivation. We predicted that parrots with higher scores for neurotic-like personality traits would be more susceptible to enrichment deprivation and develop more abnormal behaviors. Our results partially supported this hypothesis, but also showed that distinct personality dimensions were related to different forms of abnormal behavior. While neuroticism-like traits were linked to feather damaging behavior, extraversion-like traits were negatively related to stereotypic behavior. More extraverted birds showed resiliency to environmental stress, developing fewer stereotypies during enrichment deprivation and showing lower levels of these behaviors following re-enrichment. Our data, together with the results of the few studies conducted on other species, suggest that, as in humans, certain personality types render individual animals more susceptible or resilient to environmental stress. Further, this susceptibility/resiliency can have a long-term effect on behavior, as evidenced by behavioral changes that persisted despite re-enrichment. Ours is the first study evaluating the relationship between personality dimensions, environment, and abnormal behaviors in an avian species. PMID:26114423

  10. The Relationship between Personality Dimensions and Resiliency to Environmental Stress in Orange-Winged Amazon Parrots (Amazona amazonica), as Indicated by the Development of Abnormal Behaviors.

    PubMed

    Cussen, Victoria A; Mench, Joy A

    2015-01-01

    Parrots are popular companion animals, but are frequently relinquished because of behavioral problems, including abnormal repetitive behaviors like feather damaging behavior and stereotypy. In addition to contributing to pet relinquishment, these behaviors are important as potential indicators of diminished psychological well-being. While abnormal behaviors are common in captive animals, their presence and/or severity varies between animals of the same species that are experiencing the same environmental conditions. Personality differences could contribute to this observed individual variation, as they are known risk factors for stress sensitivity and affective disorders in humans. The goal of this study was to assess the relationship between personality and the development and severity of abnormal behaviors in captive-bred orange-winged Amazon parrots (Amazona amazonica). We monitored between-individual behavioral differences in enrichment-reared parrots of known personality types before, during, and after enrichment deprivation. We predicted that parrots with higher scores for neurotic-like personality traits would be more susceptible to enrichment deprivation and develop more abnormal behaviors. Our results partially supported this hypothesis, but also showed that distinct personality dimensions were related to different forms of abnormal behavior. While neuroticism-like traits were linked to feather damaging behavior, extraversion-like traits were negatively related to stereotypic behavior. More extraverted birds showed resiliency to environmental stress, developing fewer stereotypies during enrichment deprivation and showing lower levels of these behaviors following re-enrichment. Our data, together with the results of the few studies conducted on other species, suggest that, as in humans, certain personality types render individual animals more susceptible or resilient to environmental stress. Further, this susceptibility/resiliency can have a long-term effect on behavior, as evidenced by behavioral changes that persisted despite re-enrichment. Ours is the first study evaluating the relationship between personality dimensions, environment, and abnormal behaviors in an avian species. PMID:26114423

  11. Models of Abnormal Scarring

    PubMed Central

    Seo, Bommie F.; Lee, Jun Yong; Jung, Sung-No

    2013-01-01

    Keloids and hypertrophic scars are thick, raised dermal scars, caused by derailing of the normal scarring process. Extensive research on such abnormal scarring has been done; however, these being refractory disorders specific to humans, it has been difficult to establish a universal animal model. A wide variety of animal models have been used. These include the athymic mouse, rats, rabbits, and pigs. Although these models have provided valuable insight into abnormal scarring, there is currently still no ideal model. This paper reviews the models that have been developed. PMID:24078916

  12. Histological Analysis of Early Gonadal Development and Sex Differentiation in Chameleon Goby, Tridentiger trigonocephalus

    PubMed Central

    Cho, Hyun Chul; Hwang, In Joon; Baek, Hea Ja

    2014-01-01

    This study describes the developmental process of gonads in chameleon goby, Tridentiger trigonocephalus from the stage of hatching to 100 days after hatching (DAH). Based on histological observation, the primordial germ cells were observed in mesentery between mesonephric duct and gut at 15 DAH (total length, TL: 6.8±0.2 mm). At 20 DAH (TL: 7.9±0.1 mm), the primordial gonad began to protrude into peritoneal cavity and developed between mesonephric duct and gut. Initial ovarian differentiation was identified by the presence of ovarian cavity and oogonia in the gonads at 55 DAH (TL: 21.1±1.3 mm). Testicular differentiation started at 65 DAH (TL: 23.7±0.9 mm) with appearance of spermatogonial cells in the gonads. These findings indicate that sex differentiation in T. trigonocephalus occurs earlier in females than males, suggesting that this species can be classified as an undifferentiated gonochorist. PMID:25949171

  13. Histological Analysis of Early Gonadal Development and Sex Differentiation in Chameleon Goby, Tridentiger trigonocephalus.

    PubMed

    Cho, Hyun Chul; Hwang, In Joon; Baek, Hea Ja

    2014-03-01

    This study describes the developmental process of gonads in chameleon goby, Tridentiger trigonocephalus from the stage of hatching to 100 days after hatching (DAH). Based on histological observation, the primordial germ cells were observed in mesentery between mesonephric duct and gut at 15 DAH (total length, TL: 6.8±0.2 mm). At 20 DAH (TL: 7.9±0.1 mm), the primordial gonad began to protrude into peritoneal cavity and developed between mesonephric duct and gut. Initial ovarian differentiation was identified by the presence of ovarian cavity and oogonia in the gonads at 55 DAH (TL: 21.1±1.3 mm). Testicular differentiation started at 65 DAH (TL: 23.7±0.9 mm) with appearance of spermatogonial cells in the gonads. These findings indicate that sex differentiation in T. trigonocephalus occurs earlier in females than males, suggesting that this species can be classified as an undifferentiated gonochorist. PMID:25949171

  14. The effects of economic development and world-system on occupational sex segregation.

    PubMed

    Hahm, I

    1991-12-01

    In order to better integrate women's subordinate status into the world system, the author examined how processes of the new international division of labor and consequent underdevelopment affect women's overall economic status and occupational sex segregation (OSS). For the empirical test, panel regression analyses were used with 71 crossnational cases for the periods of 1960-80 and 1970-80. The results of the analyses clearly show that world-system position and economic development proved to have important consequences for OSS. However, the results unexpectedly showed a negative relation for multinational corporation dependency, which is stronger for the longer term period than for the shorter term. Of the intervening variables, the effects of female labor force participation show a negative effect on OSS, and those of the female share of the service sector show a strong positive effect on OSS at either point in time. Fertility did not show any significant effects on OSS. PMID:12285492

  15. Development without germ cells: the role of the germ line in zebrafish sex differentiation.

    PubMed

    Slanchev, Krasimir; Stebler, Jürg; de la Cueva-Méndez, Guillermo; Raz, Erez

    2005-03-15

    The progenitors of the gametes, the primordial germ cells (PGCs) are typically specified early in the development in positions, which are distinct from the gonad. These cells then migrate toward the gonad where they differentiate into sperms and eggs. Here, we study the role of the germ cells in somatic development and particularly the role of the germ line in the sex differentiation in zebrafish. To this end, we ablated the germ cells using two independent methods and followed the development of the experimental fish. First, PGCs were ablated by knocking down the function of dead end, a gene important for the survival of this lineage. Second, a method to eliminate the PGCs using the toxin-antitoxin components of the parD bacterial genetic system was used. Specifically, we expressed a bacterial toxin Kid preferentially in the PGCs and at the same time protected somatic cells by uniformly expressing the specific antidote Kis. Our results demonstrate an unexpected role for the germ line in promoting female development because PGC-ablated fish invariably developed as males. PMID:15728735

  16. Recrystallization and the Development of Abnormally Large Grains After Small Strain Deformation in a Polycrystalline Nickel-Based Superalloy

    NASA Astrophysics Data System (ADS)

    Miller, Victoria M.; Johnson, Anthony E.; Torbet, Chris J.; Pollock, Tresa M.

    2016-04-01

    The formation of abnormally large grains has been investigated in the polycrystalline nickel-based superalloy René 88DT. Cylindrical specimens with a 15 μm grain size were compressed to plastic strains up to 11.0 pct and subsequently rapidly heated to above the γ' solvus at 1423 K (1150° C) and held for 60 seconds. All deformed samples partially recrystallized during the heat treatment, with the recrystallized grain size varying with the degree of deformation. The largest final grain size occurred in samples deformed to approximately 2 pct strain, with isolated grains as large as 700 μm in diameter observed. It is proposed that abnormally large grains appear due to nucleation-limited recrystallization, not abnormal grain growth, based on the high boundary velocities measured and the observed reduction in grain orientation spread.

  17. Gender role behavior in children with XY karyotype and disorders of sex development.

    PubMed

    Jürgensen, Martina; Hiort, Olaf; Holterhus, Paul-Martin; Thyen, Ute

    2007-03-01

    Children exhibit gender-typical preferences in play, toys, activities and interests, and playmates. Several studies suggest that high concentrations of pre- and postnatal androgens contribute to male-typical behavior development, whereas female-typical behavior develops in the absence of high androgens levels. This study aims to explore the consequences of hypoandrogenization on gender-typical behavior in children who have an XY karyotype and disorder of sex development (DSD). Participants included 33 children (ages 2-12 years) with an XY karyotype and DSD; 21 reared as girls and 12 reared as boys. Children's preferred activities and interests and playmate preferences were assessed with parent report questionnaires, a structured free-play task, and choice of a toy to keep as a gift. Participant's responses were compared to those of children recruited in a pre-school and elementary school survey (N=166). In this study, the degree of hypoandrogenization as indicated by genital stage and diagnosis showed a significant relationship to nearly all of the gender-related behaviors assessed, supporting the hypothesis that masculinization of gender role behavior is a function of prenatal androgen exposure. Despite the fact that children with partial androgen effects reared as girls showed increased "boyish" behaviors, they did not show increased signs of gender identity confusion or instability on a group level. We conclude that androgen exposure plays a decisive role in the development of gender-typical behavior in children with XY karyotype and DSD conditions. PMID:17306800

  18. Anticipation of the sexual and gender development of children adopted by same-sex couples.

    PubMed

    Gato, Jorge; Fontaine, Anne Marie

    2013-01-01

    The present study aimed to characterize beliefs surrounding the sexual and gender development of children adopted by lesbian and gay couples. Participants were 768 Portuguese university students. Using a quasiexperimental design, participants were presented with identical descriptions of a couple interested in adopting a child, manipulating couple sexual orientation and child gender. Participants were then asked to anticipate three aspects of the sexual and gender development of the adopted child: sexual orientation, gender role behavior, and gender identity. MANOVAs and follow-up ANOVAs were conducted in order to analyze the data. Results indicated that participants, particularly males, considered children adopted by either lesbian or gay couples to have a lower probability of developing a normative sexual and gender identity than children adopted by heterosexual couples. Both men and women considered that children would emulate the sexual orientation of their same-sex parents, and that a boy's gender role behavior was more at risk if he was adopted by a lesbian couple. Moreover, men were apprehensive about the gender role behavior of a boy adopted by a gay male couple. Overall, these results indicate persistence of biased evaluations of the sexual and gender development of children adopted by lesbian and gay parents. Furthermore, both gender of the participant and gender of the child play an important role in these evaluations. Results are discussed and interpreted as a way of "doing gender" in the context of hegemonic masculinity. PMID:23837556

  19. Psychiatric Approaches for Disorders of Sex Development: Experience of a Multidisciplinary Team

    PubMed Central

    Özbaran, Burcu; Özen, Samim; Gök?en, Damla; Korkmaz, Özlem; Onay, Hüseyin; Özk?nay, Ferda; Ço?ulu, Özgür; Erermi?, Serpil; Köse, Sezen; Avano?lu, Ali; Ulman, ?brahim; Darcan, ?ükran

    2013-01-01

    Objective: Disorders of sex development (DSD) are a group of congenital medical conditions that affect life as a whole. In this study, we aimed to reflect the experience of a multidisciplinary team in the clinical/psychiatric follow-up of a group of children and adolescents with DSD. Methods: The study group consisted of 51 patients diagnosed with DSD. The Kiddie-Schedule for Affective Disorders and Schizophrenia, Wechsler Intelligence Scale for Children-Revised, Draw a Person Test and Children’s Apperception Test, and the Clinical Global Impression Scale (CGIS) were used for psychiatric evaluations. Results: The mean age of the patients was 7.8 years (median: 7.8; min: 1.0; max: 18.0). Genetic evaluation showed 46,XX configuration in 15 patients (29.4%) and 46,XY in 35 (68.6%). One patient (2.0%) was diagnosed to have a sex chromosome disorder. Forty patients (78.4%) had no problems with their given gender identity and gender role. Thirty-four (66.7%) patients had normal intellectual capacity. Twenty-eight (54.9%) patients did not have any psychiatric problem. Depression, anxiety disorders, attention deficit/hyperactivity disorder, and adjustment disorders were the common diagnoses. The mean score of symptom severity on CGIS-severity-baseline was 6.15±0.68 and after one year, it was 1.46±0.51 (Z=-3.236 p=0.001). The mean score of CGI–Improvement was 1.23±0.44. Conclusion: It is important to identify and treat the psychiatric disorders encountered in patients with DSD. A psychiatrist needs to be included in the professional team following these patients. Examination and observation results need to be shared by holding periodic team meetings to establish a wholesome point of view for every unique child. Conflict of interest:None declared. PMID:24379031

  20. Effects of Sex Chromosome Aneuploidies on Brain Development: Evidence from Neuroimaging Studies

    ERIC Educational Resources Information Center

    Lenroot, Rhoshel K.; Lee, Nancy Raitano; Giedd, Jay N.

    2009-01-01

    Variation in the number of sex chromosomes is a relatively common genetic condition, affecting as many as 1/400 individuals. The sex chromosome aneuploidies (SCAs) are associated with characteristic behavioral and cognitive phenotypes, although the degree to which specific individuals are affected can fall within a wide range. Understanding the…

  1. Moral Development in Single-Sex Schools: A Review of the Research

    ERIC Educational Resources Information Center

    Murphy, Madonna M.

    2008-01-01

    This paper is a systematic review of the research studies on single-sex schools conducted in the last decade. It concludes that there is empirical support to the hypothesis that single-sex schools may be advantageous for both boys and girls in terms of promoting academic achievement with a greater degree of order and control in the classroom and…

  2. Adolescents' Lifetime Experience of Selling Sex: Development over Five Years

    ERIC Educational Resources Information Center

    Fredlund, Cecilia; Svensson, Frida; Svedin, Carl Goran; Priebe, Gisela; Wadsby, Marie

    2013-01-01

    Lifetime experience of selling sex among adolescents was investigated together with sociodemographic correlates, parent-child relationship, and the existence of people to confide in. Changes over time regarding the selling of sex were investigated through a comparison of data from 2004 and 2009. This study was carried out using 3,498 adolescents…

  3. Sex Role Development: Origins from Birth through Primiparous Parents' Buying Habits and Gifts Received.

    ERIC Educational Resources Information Center

    Hillman, Carol A.

    This study investigated the construction of sexual identity and sex stereotypes. A total of 32 mainly Caucasian, married primiparous parents attending birthing classes participated in a study of their buying habits and gifts they received prior to and after the birth of their child, and hence, before and after the child's sex was known. Under both…

  4. Effects of Sex Chromosome Aneuploidies on Brain Development: Evidence from Neuroimaging Studies

    ERIC Educational Resources Information Center

    Lenroot, Rhoshel K.; Lee, Nancy Raitano; Giedd, Jay N.

    2009-01-01

    Variation in the number of sex chromosomes is a relatively common genetic condition, affecting as many as 1/400 individuals. The sex chromosome aneuploidies (SCAs) are associated with characteristic behavioral and cognitive phenotypes, although the degree to which specific individuals are affected can fall within a wide range. Understanding the…

  5. Developing human rights-based strategies to improve health among female sex workers in Rwanda.

    PubMed

    Binagwaho, Agnès; Agbonyitor, Mawuena; Mwananawe, Aimable; Mugwaneza, Placidie; Irwin, Alec; Karema, Corine

    2010-01-01

    How governments should address sex work is a topic of current debate in Rwanda and other countries. Some constituencies propose harsher punishment of sex workers as the cornerstone of an improved policy. We argue that an adequate policy response to sex work in the Rwandan context must prioritize public health and reflect current knowledge of the social determinants of health. This does not imply intensified repression, but a comprehensive agenda of medical and social support to improve sex workers' access to health care, reduce their social isolation, and expand their economic options. Evidence from social epidemiology converges with rights-based arguments in this approach. Recent field interviews with current and former sex workers strengthen the case, while highlighting the need for further social scientific and epidemiological analysis of sex work in Rwanda. Rwanda has implemented some measures that reflect a rights-based perspective in addressing sex work. For example, recent policies seek to expand access to education for girls and support sex workers in the transition to alternative livelihoods. These policies reinforce the model of solidarity-based public health action for which Rwanda has been recognized. Whether such measures can maintain traction in the face of economic austerity and ideological resistance remains to be seen. PMID:21178192

  6. First description of scrotal testicles in a dog affected by 78, XX testicular disorder of sex development.

    PubMed

    Del Carro, A P; Rosset, E; Josson-Schramme, A; Lambert, V; Buff, S

    2014-10-01

    An eight-month-old female dog presented with ambiguous external genitalia. A thorough clinical examination together with various imaging techniques and a histology examination showed the presence of two testicles linked to both the Mullerian and Wolffian ducts. The discovery of the 78,XX SRY-negative karyotype led to the diagnosis of incoherence between the chromosomal and gonadal sex, which is typical for a 78,XX testicular disorder of sex development. Our case was unique because the testicles were still located in their normal scrotal position, whereas the literature contains reports of the presence of cryptorchid testicles in this karyotype setting. To our knowledge, this is the first case that describes an SRY-negative 78,XX testicular disorder of sex development with bilateral scrotal testicles. PMID:25131568

  7. Effects of gamma radiation on development, sterility, fecundity, and sex ratio of Dermanyssus gallinae (DeGeer) (Acari: Dermanyssidae)

    SciTech Connect

    Entrekin, D.L.; Oliver, J.H. Jr.; Pound, J.M.

    1987-06-01

    Protonymphal Dermanyssus gallinae were irradiated with 0.50, 0.75, 1.0, 3.0, and 6.0 krad of gamma radiation and subsequently monitored regarding their developmental, feeding, and mating success. Also, sex ratios of adults treated as protonymphs were recorded as were sex ratios of embryos and F1 adults produced by these adults. Doses up to 1.0 krad did not prevent development of treated protonymphs to the adult stage or stop mating. Three krad reduced the number of treated protonymphs attaining adulthood and 6.0-krad treatment prevented all mites from developing to the adult stage. Egg (embryo) production was normal for mites treated with 0.50 krad, but significantly curtailed by doses of 0.75 krad and greater. Radiation doses used in this study did not appear to affect the normal variable sex ratios observed in untreated mites.

  8. A Proposed Role for VEGF Isoforms in Sex-Specific Vasculature Development in the Gonad

    PubMed Central

    Bott, RC; Clopton, DT; Cupp, AS

    2009-01-01

    Many scientists have expended efforts to determine what regulates development of an indifferent gonad into either a testis or ovary. Expression of Sry and upregulation of Sox9 are factors that initiate formation of the testis-specific pathway to allow for both sex-specific vasculature and seminiferous cord formation. Migration of mesonephric precursors of peritubular myoid cells and endothelial cells into the differentiating testis is a critical step in formation of both of these structures. Furthermore, these events appear to be initiated downstream from Sry expression. Sertoli cell secretion of growth factors acts to attract these mesonephric cells. One hypothesis is that a growth factor specific for these cell linages act in concert to coordinate migration of both peritubular and endothelial cells. A second hypothesis is that several growth factors stimulate migration and differentiation of mesonephric “stem-like” cells to result in migration and differentiation into several different cell lineages. While the specific mechanism is unclear, several growth factors have been implicated in the initiation of mesonephric cell migration. This review will focus on the proposed mechanisms of a growth factor, Vascular Endothelial Growth Factor, and how different angiogenic and inhibitory isoforms from this single gene may aid in development of testis-specific vascular development. PMID:18638140

  9. Cognitive and Neuropsychological Test Performance of Persons with Abnormalities of Adolescent Development: A Test of Waber's Hypothesis.

    ERIC Educational Resources Information Center

    Rovet, Joanne

    1983-01-01

    A total of 20 children with idiopathic precocious puberty; 27 adolescents with clinically delayed puberty; and an equivalent number of controls matched for sex, age, and IQ were given a battery of tests including measures of verbal and spatial abilities and a task using a dichotic listening procedure to assess hemispheric lateralization.…

  10. Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype.

    PubMed

    Becker, Russell E N; Akhavan, Ardavan

    2016-03-01

    Ovotesticular disorder of sex development is historically thought to confer a relatively low risk of germ cell malignancy relative to other disorders of sex development. This is likely due in part to the high prevalence of a normal 46,XX karyotype in these patients. However, disorders of sex development represent a broad phenotypic spectrum, and often patients cannot be neatly categorized with a single diagnosis. We report an atypical case of ovotesticular disorder of sex development in a child with ambiguous genitalia and 45,X/46,XY mosaic karyotype. Prophylactic bilateral gonadectomy was performed at age 14 months. PMID:26793590

  11. Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype

    PubMed Central

    Becker, Russell E.N.; Akhavan, Ardavan

    2016-01-01

    Ovotesticular disorder of sex development is historically thought to confer a relatively low risk of germ cell malignancy relative to other disorders of sex development. This is likely due in part to the high prevalence of a normal 46,XX karyotype in these patients. However, disorders of sex development represent a broad phenotypic spectrum, and often patients cannot be neatly categorized with a single diagnosis. We report an atypical case of ovotesticular disorder of sex development in a child with ambiguous genitalia and 45,X/46,XY mosaic karyotype. Prophylactic bilateral gonadectomy was performed at age 14 months. PMID:26793590

  12. Expression of putative sex-determining genes during the thermosensitive period of gonad development in the snapping turtle, Chelydra serpentina.

    PubMed

    Rhen, T; Metzger, K; Schroeder, A; Woodward, R

    2007-01-01

    Modes of sex determination are quite variable in vertebrates. The developmental decision to form a testis or an ovary can be influenced by one gene, several genes, environmental variables, or a combination of these factors. Nevertheless, certain morphogenetic aspects of sex determination appear to be conserved in amniotes. Here we clone fragments of nine candidate sex-determining genes from the snapping turtle Chelydra serpentina, a species with temperature-dependent sex determination (TSD). We then analyze expression of these genes during the thermosensitive period of gonad development. In particular, we compare gene expression profiles in gonads from embryos incubated at a male-producing temperature to those from embryos at a female-producing temperature. Expression of Dmrt1 and Sox9 mRNA increased gradually at the male-producing temperature, but was suppressed at the female-producing temperature. This finding suggests that Dmrt1 and Sox9 play a role in testis development. In contrast, expression of aromatase, androgen receptor (Ar), and Foxl2 mRNA was constant at the male-producing temperature, but increased several-fold in embryos at the female-producing temperature. Aromatase, Ar, and Foxl2 may therefore play a role in ovary development. In addition, there was a small temperature effect on ER alpha expression with lower mRNA levels found in embryos at the female-producing temperature. Finally, Dax1, Fgf9, and SF-1 were not differentially expressed during the sex-determining period, suggesting these genes are not involved in sex determination in the snapping turtle. Comparison of gene expression profiles among amniotes indicates that Dmrt1 and Sox9 are part of a core testis-determining pathway and that Ar, aromatase, ER alpha, and Foxl2 are part of a core ovary-determining pathway. PMID:18391536

  13. Carol Gilligan's theory of sex differences in the development of moral reasoning during adolescence.

    PubMed

    Muuss, R E

    1988-01-01

    Gilligan's work, which focuses on sex differences in moral reasoning, the perception of violence, the resolution of sexual dilemmas and abortion decisions, poses a major challenge to Kohlberg's theory by introducing a feminist perspective of moral development. Kohlberg had shown that the average female attained a moral judgment rating of stage three (good boy-nice girl), while adolescent males score at level four (law and order) and are more likely to move on to postconventional levels. Gilligan suggests that these findings reveal a gender bias, not that females are less mature than boys. Men and women follow different voices. Men tend to organize social relationships in a hierarchical order and subscribe to a morality of rights. Females value interpersonal connectedness, care, sensitivity, and responsibility to people. Kohlberg's scoring criteria give the interpersonal care orientations of females lower ratings than the principled justice orientation. Hence, Gilligan identifies different developmental stages for females. However, she does not claim that one system is better; both are equally valid. Only by integrating these complementary male (justice) and female (care) orientations will we be able to realize our full human potential in moral development. PMID:3381683

  14. The Sex Check: The Development of an HIV-Prevention Service to Address the Needs of Latino MSM

    PubMed Central

    Katz, Jennifer L.; Orellana, E. Roberto; Walker, Denise D.; Viquez, Luis; Picciano, Joseph F.; Roffman, Roger A.

    2012-01-01

    The Sex Check is a brief, telephone-delivered, HIV-prevention intervention tailored for individuals who are at high risk of HIV infection or transmission but who are neither reducing their risk on their own nor seeking support for this purpose. Because the intervention is delivered on a one-to-one basis, permits anonymity, is marketed to “men who have sex with men,” and is brief, it may be particularly responsive to cultural, structural, and attitudinal barriers to serving Latino MSM. Because many Latino MSM continue to engage in high risk sexual behaviors, developing and testing prevention interventions with this population is a public health priority. PMID:22605913

  15. Sex differences in the development of diabetes in mice with deleted wolframin (Wfs1) gene.

    PubMed

    Noormets, K; Kõks, S; Muldmaa, M; Mauring, L; Vasar, E; Tillmann, V

    2011-05-01

    Wolfram syndrome, caused by mutations in the wolframin (Wfs1) gene, is characterised by juvenile-onset diabetes mellitus, progressive optic atrophy, diabetes insipidus and deafness. Diabetes tend to start earlier in boys. This study investigated sex differences in longitudinal changes in blood glucose concentration (BGC) in wolframin-deficient mice (Wfs1KO) and compared their plasma proinsulin and insulin levels with those of wild-type (wt) mice. Non-fasting BGC was measured weekly in 42 (21 males) mice from both groups at nine weeks of age. An intraperitoneal glucose tolerance test (IPGTT) was conducted at the 30 (th) week and plasma insulin, c-peptide and proinsulin levels were measured at the 32 (nd) week. At the 32 (nd) week, Wfs1KO males had increased BGC compared to wt males (9.40±0.60 mmol/l vs. 7.91±0.20 mmol/l; p<0.05). The opposite tendency was seen in females. Both male and female Wfs1KO mice had impaired glucose tolerance on IPGTT. Wfs1KO males had significantly lower mean plasma insulin levels than wt males (57.78±1.80 ng/ml vs. 69.42±3.06 ng/ml; p<0.01) and Wfs1KO females (70.30±4.42 ng/ml; p<0.05). Wfs1KO males had a higher proinsulin/insulin ratio than wt males (0.09±0.02 vs. 0.05±0.01; p=0.05) and Wfs1KO females (0.04±0.01; p<0.05). Plasma c-peptide levels in males were lower in Wfs1KO males (mean 55.3±14.0 pg/ml vs. 112.7±21.9 pg/ml; p<0.05). Male Wfs1KO mice had a greater risk of developing diabetes than female Wfs1KO mice. Low plasma insulin concentration with an increased proinsulin/insulin ratio in Wfs1KO males indicates possible disturbances in converting proinsulin to insulin which in long-term may lead to insulin deficiency. Further investigation is needed to clarify the mechanism for the sex differences in the development of diabetes in Wolfram syndrome. PMID:21031341

  16. Development of a Sex Education Syllabus for Health Science at American River College. Emergence of Higher Education in America.

    ERIC Educational Resources Information Center

    Rasler, Michael L.

    This practicum paper discusses the development, evaluation, and revision of a student sex education syllabus at American River College (California). The syllabus is intended to provide an alternative learning format to the traditional lecture format. After a review of the literature, it was decided to use a fill-in or sentence completion format…

  17. Development of a transgenic sexing system based on female-specific embryonic lethality in Ceratitis capitata (Diptera: Tephritidae)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The Sterile Insect Technique (SIT) is more efficient and cost-effective when only sterile males are released. A female-specific lethality system based on a female-specifically spliced intron was developed for transgenic sexing in Ceratitis capitata (Fu et al., 2007) possibly to overcome the fitness ...

  18. Development and Field Release of a Genetic Sexing Strain of the Melon Fly, Bactrocera Cucurbitae in Hawaii

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The first practical genetic sexing strain for the melon fly, Bactrocera cucurbitae, developed in Hawaii was mass-reared and released as sterile males into wild fly populations. Significant improvements in the field quality of sterile males were made with the pupal color strain in which males can be ...

  19. Sex-Biased miRNAs in Gonad and Their Potential Roles for Testis Development in Yellow Catfish

    PubMed Central

    Jing, Jing; Wu, Junjie; Liu, Wei; Xiong, Shuting; Ma, Wenge; Zhang, Jin; Wang, Weimin; Gui, Jian-Fang; Mei, Jie

    2014-01-01

    Recently, YY super-male yellow catfish had been created by hormonal-induced sex reversal and sex-linked markers, which provides a promising research model for fish sex differentiation and gonad development, especially for testis development. MicroRNAs (miRNAs) have been revealed to play crucial roles in the gene regulation and gonad development in vertebrates. In this study, three small RNA libraries constructed from gonad tissues of XX female, XY male and YY super-male yellow catfish were sequenced. The sequencing data generated a total of 384 conserved miRNAs and 113 potential novel miRNAs, among which 23, 30 and 14 miRNAs were specifically detected in XX ovary, XY testis, and YY testis, respectively. We observed relative lower expression of several miR-200 family members, including miR-141 and miR-429 in YY testis compared with XY testis. Histological analysis indicated a higher degree of testis maturity in YY super-males compared with XY males, as shown by larger spermatogenic cyst, more spermatids and fewer spermatocytes in the spermatogenic cyst. Moreover, five miR-200 family members were significantly up-regulated in testis when treated by 17?-ethinylestradiol (EE2), high dose of which will impair testis development and cell proliferation. The down-regulation of miR-141 and 429 coincides with the progression of testis development in both yellow catfish and human. At last, the expression pattern of nine arbitrarily selected miRNAs detected by quantitative RT-PCR was consistent with the Solexa sequencing results. Our study provides a comprehensive miRNA transcriptome analysis for gonad of yellow catfish with different sex genotypes, and identifies a number of sex-biased miRNAs, some of that are potentially involved in testis development and spermatogenesis. PMID:25229553

  20. Sex difference in cell proliferation in developing rat amygdala mediated by endocannabinoids has implications for social behavior

    PubMed Central

    Krebs-Kraft, Desiree L.; Hill, Matthew N.; Hillard, Cecilia J.; McCarthy, Margaret M.

    2010-01-01

    The amygdala is a sexually dimorphic brain region critical for the regulation of social, cognitive, and emotional behaviors, but both the nature and the source of sex differences in the amygdala are largely unknown. We have identified a unique sex difference in the developing rat medial amygdala (MeA) that is regulated by cannabinoids. Newborn females had higher rates of cell proliferation than males. Treatment of neonates with the cannabinoid receptor agonist, WIN 55,212–2 (WIN), reduced cell proliferation in females to that of males and a wide range of WIN doses had no effect on cell proliferation in males. The effect of WIN on cell proliferation in the MeA was prevented by coinfusions of a CB2 but not CB1 receptor antagonist. Females had higher amygdala content of the endocannabinoid degradation enzymes, fatty acid amid hydrolase, and monoacylglycerol lipase than males, and lower amounts of the endocannabinoids 2-arachidonoylglycerol and N-arachidonylethanolamide (anandamide). Inhibition of the degradation of 2-arachidonoylglycerol in females occluded the sex difference in cell proliferation. Analyses of cell fate revealed that females had significantly more newly generated glial cells but not more newly generated neurons than males, and treatment with WIN significantly decreased glial cell genesis in females but not males. Finally, early exposure to cannabinoids masculinized juvenile play behavior in females but did not alter this behavior in males. Collectively, our findings suggest that sex differences in endocannabinoids mediate a sex difference in glial cell genesis in the developing MeA that impacts sex-specific behaviors in adolescence. PMID:21059913

  1. Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations

    PubMed Central

    Knower, Kevin C.; Kelly, Sabine; Ludbrook, Louisa M.; Bagheri-Fam, Stefan; Sim, Helena; Bernard, Pascal; Sekido, Ryohei; Lovell-Badge, Robin; Harley, Vincent R.

    2011-01-01

    Background In human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD). A defining event of vertebrate sex determination is male-specific upregulation and maintenance of SOX9 expression in gonadal pre-Sertoli cells, which is preceded by transient SRY expression in mammals. In mice, Sox9 regulation is under the transcriptional control of SRY, SF1 and SOX9 via a conserved testis-specific enhancer of Sox9 (TES). Regulation of SOX9 in human sex determination is however poorly understood. Methodology/Principal Findings We show that a human embryonal carcinoma cell line (NT2/D1) can model events in presumptive Sertoli cells that initiate human sex determination. SRY associates with transcriptionally active chromatin in NT2/D1 cells and over-expression increases endogenous SOX9 expression. SRY and SF1 co-operate to activate the human SOX9 homologous TES (hTES), a process dependent on phosphorylated SF1. SOX9 also activates hTES, augmented by SF1, suggesting a mechanism for maintenance of SOX9 expression by auto-regulation. Analysis of mutant SRY, SF1 and SOX9 proteins encoded by thirteen separate 46,XY DSD gonadal dysgenesis individuals reveals a reduced ability to activate hTES. Conclusions/Significance We demonstrate how three human sex-determining factors are likely to function during gonadal development around SOX9 as a hub gene, with different genetic causes of 46,XY DSD due a common failure to upregulate SOX9 transcription. PMID:21412441

  2. Effects of Age and Sex on the Development of Personal Space Schemata Towards Body Build

    ERIC Educational Resources Information Center

    Lerner, Richard M.; And Others

    1975-01-01

    This study assessed personal space schemata of children towards stimulus figures representing male and female body build stereotypes. Greater spatial distances were used towards the Endomorph than other physique types and significant sex differences were found. (GO)

  3. EVALUATING MULTIPLE STRESSORS IN LOGGERHEAD SEA TURTLES: DEVELOPING A TWO-SEX SPATIALLY EXPLICIT MODEL

    EPA Science Inventory

    North Atlantic loggerhead sea turtle (Caretta caretta L.) populations respond to the integrated effects of multiple environmental stressors. Environmental stressors often occur in spatially distinct frameworks and affect distinct age classes, sexes, and subpopulations differentia...

  4. Development of a Nondestructive Method for Sexing Live Adult Sternoplax souvorowiana (Coleoptera: Tenebrionidae)

    PubMed Central

    Wang, Yan; Ma, Ji; Mao, Xinfang

    2015-01-01

    The darkling beetle, Sternoplax souvorowiana (Reitter) (Coleoptera: Tenebrionidae), is flightless and lives in the Guerbantonggut desert in northwestern China. Its special eggshell structure, day-active habit, large body size, short life cycle, and ease of rearing under laboratory conditions make it an excellent model for advanced studies on desert adaptation. Determining the sex of this beetle is usually complicated by the lack of a discreet, externally visible gender-specific character. To date, dissection has been used for sex identification in this species, whereas a nondestructive means is needed for further studies of sexual dimorphism. Here, a new method based on the difference of the pigmentation pattern on the eighth tergite of each sex is described and illustrated. This method can be quickly learned, is nondestructive, is 100% accurate, and is fast enough for most applications in both the field and the laboratory. Experienced users in our laboratory routinely sex 8–10 beetles per minute. PMID:25934924

  5. Development of a nondestructive method for sexing live adult Sternoplax souvorowiana (Coleoptera: Tenebrionidae).

    PubMed

    Wang, Yan; Ma, Ji; Mao, Xinfang

    2015-01-01

    The darkling beetle, Sternoplax souvorowiana (Reitter) (Coleoptera: Tenebrionidae), is flightless and lives in the Guerbantonggut desert in northwestern China. Its special eggshell structure, day-active habit, large body size, short life cycle, and ease of rearing under laboratory conditions make it an excellent model for advanced studies on desert adaptation. Determining the sex of this beetle is usually complicated by the lack of a discreet, externally visible gender-specific character. To date, dissection has been used for sex identification in this species, whereas a nondestructive means is needed for further studies of sexual dimorphism. Here, a new method based on the difference of the pigmentation pattern on the eighth tergite of each sex is described and illustrated. This method can be quickly learned, is nondestructive, is 100% accurate, and is fast enough for most applications in both the field and the laboratory. Experienced users in our laboratory routinely sex 8-10 beetles per minute. PMID:25934924

  6. Evolution and development of sex differences in cooperative behavior in meerkats.

    PubMed

    Clutton-Brock, T H; Russell, A F; Sharpe, L L; Young, A J; Balmforth, Z; McIlrath, G M

    2002-07-12

    In cooperatively breeding birds, where helpers of both sexes assist with the provisioning and upbringing of offspring who are not their own, males tend to contribute more than females to rearing young. This sex difference has been attributed to paternity uncertainty, but could also occur because males contribute more where they are likely to remain and breed in their group of origin. In contrast to most birds, female meerkats (Suricata suricatta) are more likely to breed in their natal group than males. We show that female meerkat helpers contribute more to rearing young than males and that female helpers feed female pups more frequently than males. Our results suggest that sex differences in cooperative behavior are generated by sex differences in philopatry and occur because females derive greater direct benefits than males from raising recruits to their natal group. These findings support the view that direct, mutualistic benefits are important in the evolution of specialized cooperative behavior. PMID:12114627

  7. The sex chromosomes in evolution and in medicine.

    TOXLINE Toxicology Bibliographic Information

    Barr ML

    1966-11-26

    The recent emergence of human cytogenetics has a firm foundation in studies on other forms of life. Historical highlights are Mendel's studies on the garden pea (published in 1865 but lost in an obscure journal until 1900); formulation of cytogenic postulates by Sutton and Boveri (1902-1903); Bridges' discovery of chromosome abnormalities in Drosophila (1916), followed by numerous similar studies in plants; and demonstration of the chromosomal basis of the syndromes of Down, Klinefelter and Turner in man (1959).The sex chromosomes (XX and XY) evolved from a pair of undifferentiated autosomes of a premammalian ancestor, the X chromosome changing less than the Y as they evolved. Eleven numerical abnormalities of the sex chromosomes are known in man, and knowledge of their effects on development is accumulating. The abnormal complexes range in size from the XO error of Turner's syndrome to the XXXXY error of a variant of Klinefelter's syndrome.

  8. The sex chromosomes in evolution and in medicine.

    PubMed

    Barr, M L

    1966-11-26

    The recent emergence of human cytogenetics has a firm foundation in studies on other forms of life. Historical highlights are Mendel's studies on the garden pea (published in 1865 but lost in an obscure journal until 1900); formulation of cytogenic postulates by Sutton and Boveri (1902-1903); Bridges' discovery of chromosome abnormalities in Drosophila (1916), followed by numerous similar studies in plants; and demonstration of the chromosomal basis of the syndromes of Down, Klinefelter and Turner in man (1959).The sex chromosomes (XX and XY) evolved from a pair of undifferentiated autosomes of a premammalian ancestor, the X chromosome changing less than the Y as they evolved. Eleven numerical abnormalities of the sex chromosomes are known in man, and knowledge of their effects on development is accumulating. The abnormal complexes range in size from the XO error of Turner's syndrome to the XXXXY error of a variant of Klinefelter's syndrome. PMID:4224254

  9. The Investigation of Quality of Life in 87 Chinese Patients with Disorders of Sex Development

    PubMed Central

    Wang, Chunqing; Tian, Qinjie

    2015-01-01

    Objective. In the process of care for disorders of sex development (DSD), clinical decisions should focus on the long-term quality of life (QOL). We sought to investigate the QOL of patients with DSD in China. Design. Case-control study was carried out. Patients. 90 patients of DSD participated in the study. Finally, 87 patients were analyzed including Turner's syndrome (23), Noonan syndrome (2), androgen insensitivity syndrome (22), testicular regression syndrome (2), congenital adrenal hyperplasia (16), and pure gonadal dysgenesis (22). Measurements. The WHOQOL-BREF questionnaire was chosen for the present investigation. Four domain scores were analyzed independently including physical, psychological, and social relationship and environmental domains. Results. The average age of the DSD group is 22.34 ± 4.97 years, and only 13.79% patients ever had sexual life. The scores of psychological and environmental domains were lower than that of the physical and social relationship domains, but the difference was not significant (P > 0.05). Compared with the Chinese urban population, the QOL scores of DSD patients in China were not significantly lower. Conclusions. With proper treatment, including the follow-up and psychological support, the QOL of DSD patients cannot be significantly reduced. For DSD patients, more attention should be paid to the potential psychological and sexual problems. PMID:26075230

  10. Ethical issues in decision-making for infants with disorders of sex development.

    PubMed

    Kon, A A

    2015-05-01

    Medical decisions for infants and children should generally be based on the best interests of the child. When there is legitimate controversy over the child's best interests, the right of the child to an open future should generally determine the course of treatment. In the case of infants born with disorders of sex development (DSD), early cosmetic genitoplasty was long believed to be in the child's best interest and was therefore the standard of care. New data suggest that early genitoplasty may be more harmful than helpful, therefore the best interest standard is no longer determinative in such cases. Because children born with DSD have a right to an open future, and because the openness of their future is clearly enhanced by delaying cosmetic genitoplasty until they themselves can participate meaningfully in decision-making, early genitoplasty is ethically supportable only when medically indicated (e.g., when the child is unable to urinate without surgical intervention). Further research is needed to clarify the benefits and burdens of early and delayed genitoplasty. In parallel with further research, efforts should focus on educating society broadly to decrease stigmatization of persons with DSD. PMID:25970711

  11. Phalloplasty: A panacea for 46,XY disorder of sex development conditions with penile deficiency?

    PubMed

    Callens, Nina; Hoebeke, Piet

    2014-01-01

    In cases of severe penile inadequacy, such as in pathological conditions involving penile amputation (e.g. penile cancer), or in 46,XY disorders of sex development with severe undervirilization or maldevelopment of the penis (e.g. idiopathic micropenis, cloacal exstrophy), standard (surgical) penile lengthening techniques do not provide patients with a phallus suitable for sexual intercourse. Genital dissatisfaction can lead to low self-esteem and psychosexual dysfunction. Therefore, phalloplasty, the gold standard in transgender surgery, may provide a possibility to achieve a satisfactory genital appearance and sexual function. Small series have reported cosmetically acceptable and erogenous sensate neophalli with incorporation of a neourethra to allow voiding in a standing position and with enough bulk to allow penile prosthesis insertion for pleasurable intercourse. Although early results seem promising, further publication of series with large numbers and longer follow-up is needed to evaluate to what extent phalloplasty improves physical and sexual outcomes. Complications are of particular concern because of associated scarring and loss of sensitive tissue. Without full preoperative workups assessing patients' expectations and reasons for undergoing surgery, they may still struggle with self/penile image and with psychological barriers for engaging in sexual activity. Recommendations for the psychosocial management of boys and men with penile deficiency are suggested. PMID:25247659

  12. Vocal development in captive harbor seal pups, Phoca vitulina richardii: age, sex, and individual differences.

    PubMed

    Khan, Christin B; Markowitz, Hal; McCowan, Brenda

    2006-09-01

    The goal of this research was to determine when harbor seal pup vocalizations become sufficiently distinctive to allow individual recognition. A total of 4593 calls were analyzed from 15 captive pups. Nineteen were harsh, broadband, staccato calls used in an aggressive context. The rest were tonal "mother attraction calls," having an inverted "v"- or "u"-shaped spectrogram with harmonics and a fundamental frequency around 200-600 Hz. Calls were individually distinctive even in pups less than 2 weeks old, suggesting that mothers may be able to recognize pup vocalizations at this early age. Classification rates from discriminant function analysis were generally comparable to those of other phocids and less than in otariids, supporting the theory that recognition is more highly developed in otariids. Significant differences were found between male and female pup calls, and there were significant interactions between pup sex and age. The results of this study should be interpreted with caution until the findings are verified in wild harbor seal pups. PMID:17004489

  13. SEX-SPECIFIC ENVIRONMENTAL INFLUENCES ON THE DEVELOPMENT OF AUTOIMMUNE DISEASES

    PubMed Central

    Tiniakou, Eleni; Costenbader, Karen H.; Kriegel, Martin A.

    2013-01-01

    Sex differences in autoimmune diseases are evolutionarily tied to the fact that the female immune system is confronted with intense alterations during menstrual cycles, pregnancy and childbirth. These events may be associated with breaches in the mucosal epithelial layers that are shielding us from environmental factors. Associations between environmental agents and autoimmune diseases have been described extensively in prior studies. Little evidence, however, exists for sex-specific environmental effects on autoimmune diseases. In this review, we summarize studies involving this often-neglected aspect. We give examples of environmental factors that may influence the sex bias in autoimmunity. We conclude that most studies do not give insight into sex-specific environmental effects due to the influence of gender-selective social, occupational or other exposures. Prospective studies are needed in order to determine true sex-biased environmental influences. Finally, humanized murine models might aid in better understanding the mechanisms involved in sex-specific environmental effects on autoimmune diseases. PMID:23507400

  14. Non-autonomous sex determination controls sexually dimorphic development of the Drosophila gonad

    PubMed Central

    DeFalco, Tony; Camara, Nicole; Le Bras, Stéphanie; Van Doren, Mark

    2008-01-01

    SUMMARY Sex determination in Drosophila is commonly thought to be a cell-autonomous process, where each cell decides its own sexual fate based on its sex chromosome constitution (XX vs. XY). This is in contrast to sex determination in mammals, which largely acts non-autonomously through cell-cell signaling. Here we examine how sexual dimorphism is created in the Drosophila gonad. We have identified a novel male-specific cell type in the embryonic gonad, the pigment cell precursors. Surprisingly, using sexually mosaic embryos, we find that sex determination in both the pigment cell precursors and the male-specific somatic gonadal precursors is non-cell autonomous. Male-specific expression of Wnt2 in the embryonic gonad is necessary and sufficient for pigment cell precursor formation. Our results indicate that non-autonomous sex determination is important for creating sexual dimorphism in the Drosophila gonad, similar to the manner in which sex-specific gonad formation is controlled in mammals. PMID:18267095

  15. Pregnancy Distress Gets Under Fetal Skin: Maternal Ambulatory Assessment & Sex Differences in Prenatal Development

    PubMed Central

    Doyle, Colleen; Werner, Elizabeth; Feng, Tianshu; Lee, Seonjoo; Altemus, Margaret; Isler, Joseph R.

    2015-01-01

    Prenatal maternal distress is associated with an at-risk developmental profile, yet there is little fetal evidence of this putative in utero process. Moreover, the biological transmission for these maternal effects remains uncertain. In a study of n = 125 pregnant adolescents (ages 14–19), ambulatory assessments of daily negative mood (anger, frustration, irritation, stress), physical activity, blood pressure, heart rate (every 30 min over 24 hr), and salivary cortisol (six samples) were collected at 13–16, 24–27, 34–37 gestational weeks. Corticotropin-releasing hormone, C-reactive protein, and interleukin 6 from blood draws and 20 min assessments of fetal heart rate (FHR) and movement were acquired at the latter two sessions. On average, fetuses showed development in the expected direction (decrease in FHR, increase in SD of FHR and in the correlation of movement and FHR (“coupling”)). Maternal distress characteristics were associated with variations in the level and trajectory of fetal measures, and results often differed by sex. For males, greater maternal 1st and 2nd session negative mood and 2nd session physical activity were associated with lower overall FHR (p <.01), while 1st session cortisol was associated with a smaller increase in coupling (p <.01), and overall higher levels (p = .05)—findings suggesting accelerated development. For females, negative mood, cortisol, and diastolic blood pressure were associated with indications of relatively less advanced and accelerated outcomes. There were no associations between negative mood and biological variables. These data indicate that maternal psychobiological status influences fetal development, with females possibly more variously responsive to different exposures. PMID:25945698

  16. Pregnancy distress gets under fetal skin: Maternal ambulatory assessment & sex differences in prenatal development.

    PubMed

    Doyle, Colleen; Werner, Elizabeth; Feng, Tianshu; Lee, Seonjoo; Altemus, Margaret; Isler, Joseph R; Monk, Catherine

    2015-07-01

    Prenatal maternal distress is associated with an at-risk developmental profile, yet there is little fetal evidence of this putative in utero process. Moreover, the biological transmission for these maternal effects remains uncertain. In a study of n?=?125 pregnant adolescents (ages 14-19), ambulatory assessments of daily negative mood (anger, frustration, irritation, stress), physical activity, blood pressure, heart rate (every 30?min over 24?hr), and salivary cortisol (six samples) were collected at 13-16, 24-27, 34-37 gestational weeks. Corticotropin-releasing hormone, C-reactive protein, and interleukin 6 from blood draws and 20?min assessments of fetal heart rate (FHR) and movement were acquired at the latter two sessions. On average, fetuses showed development in the expected direction (decrease in FHR, increase in SD of FHR and in the correlation of movement and FHR ("coupling")). Maternal distress characteristics were associated with variations in the level and trajectory of fetal measures, and results often differed by sex. For males, greater maternal 1st and 2nd session negative mood and 2nd session physical activity were associated with lower overall FHR (p?development. For females, negative mood, cortisol, and diastolic blood pressure were associated with indications of relatively less advanced and accelerated outcomes. There were no associations between negative mood and biological variables. These data indicate that maternal psychobiological status influences fetal development, with females possibly more variously responsive to different exposures. PMID:25945698

  17. Sex ratio evolution under probabilistic sex determination.

    PubMed

    Paixão, Tiago; Phadke, Sujal S; Azevedo, Ricardo B R; Zufall, Rebecca A

    2011-07-01

    Sex allocation theory has been remarkably successful at explaining the prevalence of even sex ratios in natural populations and at identifying specific conditions that can result in biased sex ratios. Much of this theory focuses on parental sex determination (SD) strategies. Here, we consider instead the evolutionary causes and consequences of mixed offspring SD strategies, in which the genotype of an individual determines not its sex, but the probability of developing one of multiple sexes. We find that alleles specifying mixed offspring SD strategies can generally outcompete alleles that specify pure strategies, but generate constraints that may prevent a population from reaching an even sex ratio. We use our model to analyze sex ratios in natural populations of Tetrahymena thermophila, a ciliate with seven sexes determined by mixed SD alleles. We show that probabilistic SD is sufficient to account for the occurrence of skewed sex ratios in natural populations of T. thermophila, provided that their effective population sizes are small. Our results highlight the importance of genetic drift in sex ratio evolution and suggest that mixed offspring SD strategies should be more common than currently thought. PMID:21729059

  18. Androgen modulation of Foxp1 and Foxp2 in the developing rat brain: impact on sex specific vocalization.

    PubMed

    Bowers, J Michael; Perez-Pouchoulen, Miguel; Roby, Clinton R; Ryan, Timothy E; McCarthy, Margaret M

    2014-12-01

    Sex differences in vocal communication are prevalent in both the animals and humans. The mechanism(s) mediating gender differences in human language are unknown, although, sex hormones, principally androgens, play a central role in the development of vocalizations in a wide variety of animal species. The discovery of FOXP2 has added an additional avenue for exploring the origins of language and animal communication. The FOXP2 gene is a member of the forkhead box P (FOXP) family of transcription factors. Prior to the prenatal androgen surge in male fetuses, we observed no sex difference for Foxp2 protein levels in cultured cells. In contrast, 24 hours after the onset of the androgen surge, we found a sex difference for Foxp2 protein levels in cultured cortical cells with males having higher levels than females. Furthermore, we observed the potent nonaromatizable androgen dihydrotestosterone altered not only Foxp2 mRNA and protein levels but also Foxp1. Androgen effects on both Foxp2 and Foxp1 were found to occur in the striatum, cerebellar vermis, and cortex. Immunofluorescence microscopy and coimmunoprecipitation demonstrate Foxp2 and the androgen receptor protein interact. Databases for transcription factor binding sites predict a consensus binding motif for androgen receptor on the Foxp2 promoter regions. We also observed a sex difference in rat pup vocalization with males vocalizing more than females and treatment of females with dihydrotestosterone eliminated the sex difference. We propose that androgens might be an upstream regulator of both Foxp2 and Foxp1 expression and signaling. This has important implications for language and communication as well as neuropsychiatric developmental disorders involving impairments in communication. PMID:25247470

  19. Androgen Modulation of Foxp1 and Foxp2 in the Developing Rat Brain: Impact on Sex Specific Vocalization

    PubMed Central

    Perez-Pouchoulen, Miguel; Roby, Clinton R.; Ryan, Timothy E.; McCarthy, Margaret M.

    2014-01-01

    Sex differences in vocal communication are prevalent in both the animals and humans. The mechanism(s) mediating gender differences in human language are unknown, although, sex hormones, principally androgens, play a central role in the development of vocalizations in a wide variety of animal species. The discovery of FOXP2 has added an additional avenue for exploring the origins of language and animal communication. The FOXP2 gene is a member of the forkhead box P (FOXP) family of transcription factors. Prior to the prenatal androgen surge in male fetuses, we observed no sex difference for Foxp2 protein levels in cultured cells. In contrast, 24 hours after the onset of the androgen surge, we found a sex difference for Foxp2 protein levels in cultured cortical cells with males having higher levels than females. Furthermore, we observed the potent nonaromatizable androgen dihydrotestosterone altered not only Foxp2 mRNA and protein levels but also Foxp1. Androgen effects on both Foxp2 and Foxp1 were found to occur in the striatum, cerebellar vermis, and cortex. Immunofluorescence microscopy and coimmunoprecipitation demonstrate Foxp2 and the androgen receptor protein interact. Databases for transcription factor binding sites predict a consensus binding motif for androgen receptor on the Foxp2 promoter regions. We also observed a sex difference in rat pup vocalization with males vocalizing more than females and treatment of females with dihydrotestosterone eliminated the sex difference. We propose that androgens might be an upstream regulator of both Foxp2 and Foxp1 expression and signaling. This has important implications for language and communication as well as neuropsychiatric developmental disorders involving impairments in communication. PMID:25247470

  20. MicroRNA-122 Influences the Development of Sperm Abnormalities from Human Induced Pluripotent Stem Cells by Regulating TNP2 Expression

    PubMed Central

    Huang, Yongyi; Liu, Jianjun; Zhao, Yanhui; Jiang, Lizhen; Huang, Qin

    2013-01-01

    Sperm abnormalities are one of the main factors responsible for male infertility; however, their pathogenesis remains unclear. The role of microRNAs in the development of sperm abnormalities in infertile men has not yet been investigated. Here, we used human induced pluripotent stem cells to investigate the influence of miR-122 expression on the differentiation of these cells into spermatozoa-like cells in vitro. After induction, mutant miR-122-transfected cells formed spermatozoa-like cells. Flow cytometry of DNA content revealed a significant increase in the haploid cell population in spermatozoa-like cells derived from mutant miR-122-transfected cells as compared to those derived from miR-122-transfected cells. During induction, TNP2 and protamine mRNA and protein levels were significantly higher in mutant miR-122-transfected cells than in miR-122-transfected cells. High-throughput isobaric tags for relative and absolute quantification were used to identify and quantify the different protein expression levels in miR-122- and mutant miR-122-transfected cells. Among all the proteins analyzed, the expression of lipoproteins, for example, APOB and APOA1, showed the most significant difference between the two groups. This study illustrates that miR-122 expression is associated with abnormal sperm development. MiR-122 may influence spermatozoa-like cells by suppressing TNP2 expression and inhibiting the expression of proteins associated with sperm development. PMID:23327642

  1. Age- and Sex-Dependent Changes in Androgen Receptor Expression in the Developing Mouse Cortex and Hippocampus

    PubMed Central

    Ridder, Aaron

    2015-01-01

    During the perinatal period, male mice are exposed to higher levels of testosterone (T) than females, which promotes sexual dimorphism in their brain structures and behaviors. In addition to acting via estrogen receptors after being locally converted into estradiol by aromatase, T also acts directly through androgen receptor (AR) in the brain. Therefore, we hypothesized that AR expression in the developing mouse cortex and hippocampus was sexually dimorphic. To test our hypothesis, we measured and determined AR mRNA and protein levels in mouse cortex/hippocampus collected on the day of birth (PN0) and 7 (PN7), 14 (PN14), and 21 (PN21) days after birth. We demonstrated that, as age advanced, AR mRNA levels increased in the cortex/hippocampus of both sexes but showed no sex difference. Two AR proteins, the full-length (110 kDa) and a smaller isoform (70 kDa), were detected in the developing mouse cortex/hippocampus with an age-dependent increase in protein levels of both AR isoforms at PN21 and a transient masculine increase in expression of the full-length AR protein on PN7. Thus, we conclude that the postnatal age and sex differences in AR protein expression in combination with the sex differences in circulating T may cause sexual differentiation of the mouse cortex/hippocampus. PMID:26317111

  2. Robust algorithmic detection of the developed cardiac pathologies and emerging or transient abnormalities from short periods of RR data

    NASA Astrophysics Data System (ADS)

    Gavrishchaka, Valeriy V.; Senyukova, Olga

    2011-06-01

    Numerous research efforts and clinical testing have confirmed validity of heart rate variability (HRV) analysis as one of the cardiac diagnostics modalities. The majority of HRV analysis tools currently used in practice are based on linear indicators. Methods from nonlinear dynamics (NLD) provide more natural modeling framework for adaptive biological systems with multiple feedback loops. Compared to linear indicators, many NLD-based measures are much less sensitive to data artifacts and non-stationarity. However, majority of NLD measures require long time series for stable calculation. Similar restrictions also apply for linear indicators. Such requirements could drastically limit practical usability of HRV analysis in many applications, including express diagnostics, early indication of subtle directional changes during personalization of medical treatment, and robust detection of emerging or transient abnormalities. Recently we have illustrated that these challenges could be overcome by using classification framework based on boosting-like ensemble learning techniques that are capable of discovering robust meta-indicators from existing HRV measures and other incomplete empirical knowledge. In this paper we demonstrate universality of such meta-indicators and discuss operational details of their practical usage. Using such pathology examples as congestive heart failure (CHF) and arrhythmias, we show that classifiers trained on short RR segments (down to several minutes) could achieve reasonable classification accuracy (˜80-85% and higher). These indicators calculated from longer RR segments could be applicable for accurate diagnostics with classification accuracy approaching 100%. In addition, it is feasible to discover single "normal-abnormal" meta-classifier capable of detecting multiple abnormalities.

  3. Regulation of gonadal sex ratios and pubertal development by the thyroid endocrine system in zebrafish (Danio rerio)

    USGS Publications Warehouse

    Sharma, Prakash; Patino, Reynaldo

    2013-01-01

    We examined associations between thyroid condition, gonadal sex and pubertal development in zebrafish. Seventy-two-hour postfertilization larvae were reared in untreated medium or in the presence of goitrogens (sodium perchlorate, 0.82 mM; methimazole, 0.15 and 0.3 mM) or thyroxine (1 and 10 nM) for 30 days. Thyrocyte height, gonadal sex and gonadal development were histologically determined at 45 and 60 days postfertilization (dpf). Thyrocyte hypertrophy, an index of hypothyroidism, was observed at 45 and 60 dpf in perchlorate-treated but only at 45 dpf in methimazole-treated fish. Similarly, gonadal sex ratios were biased toward ovaries relative to control animals at 45 and 60 dpf in perchlorate-treated fish but only at 45 dpf in methimazole-treated fish. Gonadal sex ratios were biased toward testes at 45 and 60 dpf in thyroxine-treated fish. Spermatogenesis was delayed in testes from goitrogen-treated fish at 60 dpf relative to control values, but was unaffected in testes from thyroxine-treated individuals. Oogenesis seemed to be nonspecifically delayed in all treatments relative to control at 60 dpf. This study confirmed the previously reported association between hypothyroid condition and ovarian-skewed ratios, and hyperthyroid condition and testicular-skewed ratios, and also showed that male pubertal development is specifically delayed by experimental hypothyroidism. The simultaneous recovery from the hypothyroid and ovary-inducing effects of methimazole by 60 dpf (27 days post-treatment) suggests that the ovary-skewing effect of goitrogens is reversible when thyroid conditions return to basal levels before developmental commitment of gonadal sex. Conversely, the masculinizing effect of hyperthyroidism seems to be stable and perhaps permanent.

  4. Abnormal tau phosphorylation at Ser396 in Alzheimer's disease recapitulates development and contributes to reduced microtubule binding.

    PubMed

    Bramblett, G T; Goedert, M; Jakes, R; Merrick, S E; Trojanowski, J Q; Lee, V M

    1993-06-01

    Abnormally phosphorylated tau proteins (A68) are the building blocks of Alzheimer's disease (AD) paired helical filaments. The biological consequences of the conversion of normal adult tau to A68 remain unknown. Here we demonstrate that native A68 does not bind to microtubules (MTs), yet dephosphorylated A68 regains the ability to bind to MTs. Ser396 is phosphorylated in A68, but not in normal adult tau, whereas fetal tau is phosphorylated transiently at this site. Phosphorylation of tau at Ser396 by protein kinases in CHO cells and rat brain produces an electrophoretic mobility similar to that of A68. Using CHO cells transfected with an Ala396 mutant, we show that the phosphorylation of tau at Ser396 reduces its affinity for MTs and its ability to stabilize MTs against nocodazole-induced depolymerization. Our results demonstrate that the abnormal phosphorylation of tau in AD involves Ser396, and we suggest that this may be mediated by the inappropriate activation of fetal kinases or the reduced activity of tau protein phosphatases. Thus, phosphorylation of Ser396 may destabilize MTs in AD, resulting in the degeneration of affected cells. PMID:8318230

  5. COLLAPSED ABNORMAL POLLEN1 Gene Encoding the Arabinokinase-Like Protein Is Involved in Pollen Development in Rice1[C][W][OA

    PubMed Central

    Ueda, Kenji; Yoshimura, Fumiaki; Miyao, Akio; Hirochika, Hirohiko; Nonomura, Ken-Ichi; Wabiko, Hiroetsu

    2013-01-01

    We isolated a pollen-defective mutant, collapsed abnormal pollen1 (cap1), from Tos17 insertional mutant lines of rice (Oryza sativa). The cap1 heterozygous plant produced equal numbers of normal and collapsed abnormal grains. The abnormal pollen grains lacked almost all cytoplasmic materials, nuclei, and intine cell walls and did not germinate. Genetic analysis of crosses revealed that the cap1 mutation did not affect female reproduction or vegetative growth. CAP1 encodes a protein consisting of 996 amino acids that showed high similarity to Arabidopsis (Arabidopsis thaliana) l-arabinokinase, which catalyzes the conversion of l-arabinose to l-arabinose 1-phosphate. A wild-type genomic DNA segment containing CAP1 restored mutants to normal pollen grains. During rice pollen development, CAP1 was preferentially expressed in anthers at the bicellular pollen stage, and the effects of the cap1 mutation were mainly detected at this stage. Based on the metabolic pathway of l-arabinose, cap1 pollen phenotype may have been caused by toxic accumulation of l-arabinose or by inhibition of cell wall metabolism due to the lack of UDP-l-arabinose derived from l-arabinose 1-phosphate. The expression pattern of CAP1 was very similar to that of another Arabidopsis homolog that showed 71% amino acid identity with CAP1. Our results suggested that CAP1 and related genes are critical for pollen development in both monocotyledonous and dicotyledonous plants. PMID:23629836

  6. Chromosomal abnormalities in women with breast cancer after autologous stem cell transplantation are infrequent and may not predict development of therapy-related leukemia or myelodysplastic syndrome.

    PubMed

    Martínez-Climent, J A; Comes, A M; Vizcarra, E; Benet, I; Arbona, C; Prósper, F; Solano, C; García Clavel, B; Marugán, I; Lluch, A; García-Conde, J

    2000-06-01

    We determined prospectively the incidence of chromosomal abnormalities in patients with high-risk breast cancer (HRBC) after high-dose chemotherapy (HDCT) and autologous stem cell transplantation (ASCT), and correlated the cytogenetic abnormalities with the development of post-transplant myelodysplastic syndrome or acute myeloid leukemia (MDS/AML). From 1990 to 1999, 229 women with HRBC underwent ASCT. Cytogenetic analysis of bone marrow (BM) cells was performed 12-59 months after ASCT in 60 consecutive women uniformly treated with six courses of FAC/FEC followed by HDCT and ASCT. With a median follow-up of 36 months after ASCT, there were no cases of MDS/AML among the 229 patients. In the selected cohort of 60 patients, three (5%) showed clonal chromosomal abnormalities (two single trisomy X and one t(1;6)), whereas two additional patients showed non-clonal reciprocal translocations. Two of the patients with clonal aberrations had blood cytopenias as well as subtle dysplastic pictures in BM which were not classifiable as MDS according to the FAB criteria. Similar dysplastic features were also observed in four patients with normal karyotypes. All cytogenetic aberrations were transient and disappeared, except a +X detected by FISH in a residual cell population in one of the patients. Retrospective cytogenetic and FISH studies of samples obtained after six cycles of FAC/FEC and before transplant demonstrated no chromosomal abnormalities in any of the five patients with post-ASCT karyotypic changes. Early changes in karyotype detected in breast cancer patients following ASCT are transient and do not correlate with or predict development of MDS/AML. As these aberrations were not present before ASCT, they may be related to the HDCT regimen or transplant procedure rather than to the prior adjuvant therapy. Our results suggest that ASCT may be less likely to cause MDS or AML in breast cancer patients as compared to other malignancies. Bone Marrow Transplantation (2000) 25, 1203-1208. PMID:10849534

  7. Development of a PubMed Based Search Tool for Identifying Sex and Gender Specific Health Literature

    PubMed Central

    Song, Michael M.; Simonsen, Cheryl K.; Wilson, Joanna D.

    2016-01-01

    Abstract Background: An effective literature search strategy is critical to achieving the aims of Sex and Gender Specific Health (SGSH): to understand sex and gender differences through research and to effectively incorporate the new knowledge into the clinical decision making process to benefit both male and female patients. The goal of this project was to develop and validate an SGSH literature search tool that is readily and freely available to clinical researchers and practitioners. Methods: PubMed, a freely available search engine for the Medline database, was selected as the platform to build the SGSH literature search tool. Combinations of Medical Subject Heading terms, text words, and title words were evaluated for optimal specificity and sensitivity. The search tool was then validated against reference bases compiled for two disease states, diabetes and stroke. Results: Key sex and gender terms and limits were bundled to create a search tool to facilitate PubMed SGSH literature searches. During validation, the search tool retrieved 50 of 94 (53.2%) stroke and 62 of 95 (65.3%) diabetes reference articles selected for validation. A general keyword search of stroke or diabetes combined with sex difference retrieved 33 of 94 (35.1%) stroke and 22 of 95 (23.2%) diabetes reference base articles, with lower sensitivity and specificity for SGSH content. Conclusions: The Texas Tech University Health Sciences Center SGSH PubMed Search Tool provides higher sensitivity and specificity to sex and gender specific health literature. The tool will facilitate research, clinical decision-making, and guideline development relevant to SGSH. PMID:26555409

  8. Safe-sex belief and sexual risk behaviours among adolescents from three developing countries: a cross-sectional study

    PubMed Central

    Osorio, Alfonso; Lopez-del Burgo, Cristina; Ruiz-Canela, Miguel; Carlos, Silvia; de Irala, Jokin

    2015-01-01

    Objectives This study intends to evaluate whether the belief that condoms are 100% effective in protecting against HIV infection is associated with sexual risk behaviours among youth. Methods A cross-sectional study was performed in representative samples of high-school students in the Philippines, El Salvador and Peru. Participants completed a self-administered questionnaire. Students were asked about the risk of HIV transmission if one has sex using condoms. They were also asked to indicate whether they had ever had sexual relations and whether they used a condom in their first sexual relation. The sample was composed of 8994 students, aged 13–18. Results One out of seven adolescents believed condoms are 100% effective (safe-sex believers). Those adolescents were 82% more likely to have had sex than those without such belief, after adjusting for confounders (OR=1.82; 95% CI 1.51 to 2.21). On the contrary, no association was found between risk perception and condom use. Subgroup and sensitivity analyses produced similar results. Conclusions This is, to the best of our knowledge, the first study conducted specifically to evaluate this phenomenon and that has used the same questionnaire and the same data collection protocol in three different developing countries from Asia, Central and South America. These results reasonably suggest that there could be an association between safe sex beliefs and sexual initiation. Longitudinal studies are needed to better understand this possible association as it could influence how to better promote sexual health. PMID:25916489

  9. Safe sex

    MedlinePLUS

    Safe sex means taking steps before and during sex that can prevent you from getting an infection, or from ... the skin around the genital area. Before having sex: Get to know your partner and discuss your ...

  10. Development of systemic lupus erythematosus in a male-to-female transsexual: the role of sex hormones revisited.

    PubMed

    Chan, K L; Mok, C C

    2013-11-01

    Systemic lupus erythematosus (SLE) predominantly affects women of childbearing age. The infrequency of SLE in men and disease onset in prepubertal or postmenopausal women suggests a role of estrogen in the predisposition to the disease. Patients with hypergonadotrophic hypogonadism are prone to the development of SLE, and the use of exogenous estrogens in women increases the relative risk of SLE onset and disease flares. These observations provide indirect evidence for an opposite role of estrogens and androgens in the pathogenesis of SLE. We report on a male-to-female transsexual who developed SLE 20 years after sex-reassignment surgery and prolonged estrogen therapy. The role of sex hormones in SLE is revisited. PMID:23897544

  11. Reimagining Gender through Policy Development: The Case of a "Single-Sex" Educational Organisation

    ERIC Educational Resources Information Center

    Douthirt Cohen, Beth

    2012-01-01

    In 2005, a feminist educational organisation in the USA for young women, ages 14-21, adopted a policy in order to clarify their target constituency of girls and young women. The policy defined "girls and young women" not as a designation associated with fixed biological sex, but instead as a self-determined identity label creating an explicit…

  12. The Impact of Sex-Role Stereotyping on Human Development. Monograph, Volume 3, Number 1.

    ERIC Educational Resources Information Center

    O'Reilly, Patricia

    A stereotype is a standardized mental picture based on a common characteristic of a group of people, representing an oversimplified opinion or an uncritical judgment that is not reality-based. In order to understand the psychological basis of sex-role stereotyping it must be understood that the stereotype of men as strong, independent, and in…

  13. Development of Shyness: Relations with Children's Fearfulness, Sex, and Maternal Behavior

    ERIC Educational Resources Information Center

    Eggum, Natalie D.; Eisenberg, Nancy; Spinrad, Tracy L.; Reiser, Mark; Gaertner, Bridget M.; Sallquist, Julie; Smith, Cynthia L.

    2009-01-01

    The relations of childhood fearfulness (observed and adult reported) and adult-reported shyness at 18 (n = 256) and 30 (n = 230) months of age were assessed. Fear was positively related to shyness concurrently and longitudinally, but slightly more consistently at 18 months. The moderating roles of observed maternal sensitivity and children's sex…

  14. Sex Differential Item Functioning in the Inventory of Early Development III Social-Emotional Skills

    ERIC Educational Resources Information Center

    Beaver, Jessica L.; French, Brian F.; Finch, W. Holmes; Ullrich-French, Sarah C.

    2014-01-01

    Social-emotional (SE) skills in the early developmental years of children influence outcomes in psychological, behavioral, and learning domains. The adult ratings of a child's SE skills can be influenced by sex stereotypes. These rating differences could lead to differential conclusions about developmental progress or risk. To ensure that…

  15. Race and Sex Differences in Occupational Aspirations: Their Development and Consequences for Occupational Segregation.

    ERIC Educational Resources Information Center

    Gottfredson, Linda S.

    A study was conducted to examine race and sex differences in occupational aspirations and the role of these differences in perpetuating under- or overrepresentation of women and blacks in different occupations. The underrepresentation of women, especially blacks, in all levels of entrepreneurial jobs was stressed since these jobs constitute a…

  16. Reimagining Gender through Policy Development: The Case of a "Single-Sex" Educational Organisation

    ERIC Educational Resources Information Center

    Douthirt Cohen, Beth

    2012-01-01

    In 2005, a feminist educational organisation in the USA for young women, ages 14-21, adopted a policy in order to clarify their target constituency of girls and young women. The policy defined "girls and young women" not as a designation associated with fixed biological sex, but instead as a self-determined identity label creating an explicit…

  17. Expression analysis of sex-determining pathway genes during development in male and female Atlantic salmon (Salmo salar).

    PubMed

    Lubieniecki, Krzysztof P; Botwright, Natasha A; Taylor, Richard S; Evans, Brad S; Cook, Mathew T; Davidson, William S

    2015-12-01

    We studied the expression of 28 genes that are involved in vertebrate sex-determination or sex-differentiation pathways, in male and female Atlantic salmon (Salmo salar) in 11 stages of development from fertilization to after first feeding. Gene expression was measured in half-sibs that shared the same dam. The sire of family 1 was a sex-reversed female (i.e., genetically female but phenotypically male), and so the progeny of this family are all female. The sire of family 2 was a true male, and so the offspring were 50% male and 50% female. Gene expression levels were compared among three groups: 20 female offspring of the cross between a regular female and the sex-reversed female (family 1, first group), ?10 females from the cross between a regular female and a regular male (family 2, second group) and ?10 males from this same family (family 2, third group). Statistically significant differences in expression levels between males and the two groups of females were observed for two genes, gsdf and amh/mis, in the last four developmental stages examined. SdY, the sex-determining gene in rainbow trout, appeared to be expressed in males from 58 days postfertilization (dpf). Starting at 83 dpf, ovarian aromatase, cyp19a, expression appeared to be greater in both groups of females compared with males, but this difference was not statistically significant. The time course of expression suggests that sdY may be involved in the upregulation of gsdf and amh/mis and the subsequent repression of cyp19a in males via the effect of amh/mis. PMID:26330486

  18. Role of Sex Hormones in the Development and Progression of Hepatitis B Virus-Associated Hepatocellular Carcinoma

    PubMed Central

    Montella, Maurizio; D'Arena, Giovanni; Crispo, Anna; Capunzo, Mario; Nocerino, Flavia; Grimaldi, Maria; Barbieri, Antonio; D'Ursi, Anna Maria; Tecce, Mario Felice; Amore, Alfonso; Galdiero, Massimiliano; Ciliberto, Gennaro; Giudice, Aldo

    2015-01-01

    Infection with hepatitis B virus (HBV) is a major risk factor for hepatocellular carcinoma (HCC) in developed countries. Epidemiological reports indicate that the incidence of HBV-related HCC is higher in males and postmenopausal females than other females. Increasing evidence suggests that sex hormones such as androgens and estrogens play an important role in the progression of an HBV infection and in the development of HBV-related HCC. While androgen is supposed to stimulate the androgen signaling pathway and cooperate to the increased transcription and replication of HBV genes, estrogen may play a protecting role against the progression of HBV infections and in the development of HBV-related HCC through decreasing HBV RNA transcription and inflammatory cytokines levels. Additionally, sex hormones can also affect HBV-related hepatocarcinogenesis by inducing epigenetic changes such as the regulation of mRNA levels by microRNAs (miRNAs), DNA methylation, and histone modification in liver tissue. This review describes the molecular mechanisms underlying the gender disparity in HBV-related HCC with the aim of improving the understanding of key factors underneath the sex disparity often observed in HBV infections. Furthermore, the review will propose more effective prevention strategies and treatments of HBV-derived diseases. PMID:26491442

  19. A Review of Sex Differences in Peer Relationship Processes: Potential Trade-Offs for the Emotional and Behavioral Development of Girls and Boys

    ERIC Educational Resources Information Center

    Rose, Amanda J.; Rudolph, Karen D.

    2006-01-01

    Theory and research on sex differences in adjustment focus largely on parental, societal, and biological influences. However, it also is important to consider how peers contribute to girls' and boys' development. This article provides a critical review of sex differences in several peer relationship processes, including behavioral and…

  20. The Use of Sexually Explicit Material in Clinical, Educational and Research Settings in the United Kingdom and Its Relation to the Development of Psychosexual Therapy and Sex Education

    ERIC Educational Resources Information Center

    Brewster, Marnie; Wylie, Kevan R.

    2008-01-01

    The present review describes the development and use of sexually explicit material in sex education within UK psychosexual therapy clinics, medical schools and also in state-maintained secondary schools with reference to interests that have shaped the provision of sex education since the early twentieth century. A short summary of published books…

  1. A Review of Sex Differences in Peer Relationship Processes: Potential Trade-Offs for the Emotional and Behavioral Development of Girls and Boys

    ERIC Educational Resources Information Center

    Rose, Amanda J.; Rudolph, Karen D.

    2006-01-01

    Theory and research on sex differences in adjustment focus largely on parental, societal, and biological influences. However, it also is important to consider how peers contribute to girls' and boys' development. This article provides a critical review of sex differences in several peer relationship processes, including behavioral and…

  2. The influence of sex-linked genetic mechanisms on attention and impulsivity

    PubMed Central

    Trent, Simon; Davies, William

    2012-01-01

    It is now generally agreed that there are inherent sex differences in healthy individuals across a number of neurobiological domains (including brain structure, neurochemistry, and cognition). Moreover, there is a burgeoning body of evidence highlighting sex differences within neuropsychiatric populations (in terms of the rates of incidence, clinical features/progression, neurobiology and pathology). Here, we consider the extent to which attention and impulsivity are sexually dimorphic in healthy populations and the extent to which sex might modulate the expression of disorders characterised by abnormalities in attention and/or impulsivity such as attention deficit hyperactivity disorder (ADHD), autism and addiction. We then discuss general genetic mechanisms that might underlie sex differences in attention and impulsivity before focussing on specific positional and functional candidate sex-linked genes that are likely to influence these cognitive processes. Identifying novel sex-modulated molecular targets should ultimately enable us to develop more effective therapies in disorders associated with attentional/impulsive dysfunction. PMID:21983394

  3. Effects of 17α-ethinylestradiol at different water temperatures on zebrafish sex differentiation and gonad development.

    PubMed

    Luzio, Ana; Santos, Dércia; Fontaínhas-Fernandes, António A; Monteiro, Sandra M; Coimbra, Ana M

    2016-05-01

    In the current climate change scenario, studies combining effects of water contaminants with environmental parameters, such as temperature, are essential to predict potentially harmful impacts on aquatic organisms. In zebrafish (Danio rerio), sex determination seems to have a polygenic genetic basis, which can be secondarily influenced by environmental factors, such as temperature and endocrine disrupting chemicals (EDCs). The present study aimed to evaluate the effects of the EDC 17α-ethinylestradiol (EE2), a potent synthetic estrogen, on zebrafish sex differentiation and gonad development at different water temperatures. Therefore, zebrafish raised at three distinct water temperatures (23, 28 or 33±0.5°C), were exposed to 4ng/L of EE2, from 2hours to 60days post-fertilization (dpf). Subsequently, a quantitative (stereological) assessment of zebrafish gonads was performed, at 35 and 60dpf, to identify alterations on gonadal development and differentiation. The results show that low temperature delayed general growth of zebrafish, as well as gonad differentiation and maturation, while high temperature induced an opposite effect. Moreover, sex ratio was skewed toward males when zebrafish were exposed to the high temperature. In general, EE2 exposure promoted gonad maturation in both genders, independently of the temperature. However, at the high temperature condition, exposure to EE2 induced a delay in the male gonad development, with some individuals still showing differentiating gonads at 60dpf. The findings of this study support the notion that zebrafish has a genetic sex determination mechanism highly sensitive to environmental factors and show that it is essential to study the effects of water contaminants at different climate scenarios in order to understand potential future impacts on organisms. PMID:26897088

  4. Sex and Breed-Dependent Organ Development and Metabolic Responses in Foetuses from Lean and Obese/Leptin Resistant Swine

    PubMed Central

    Torres-Rovira, Laura; Tarrade, Anne; Astiz, Susana; Mourier, Eve; Perez-Solana, Mariluz; de la Cruz, Paloma; Gomez-Fidalgo, Ernesto; Sanchez-Sanchez, Raul; Chavatte-Palmer, Pascale; Gonzalez-Bulnes, Antonio

    2013-01-01

    The present study aimed to determine the effects of breed and sex on growth patterns and metabolic features of advanced-pregnancy foetuses exposed to the same environmental conditions. Thus, at Day 62 of pregnancy, swine foetuses from an obese breed with leptin resistance (Iberian breed) were compared to lean crossbred foetuses (25% Large White ×25% Landrace ×50% Pietrain). There were differential developmental patterns in foetuses with leptin resistance, mainly a higher relative weight of the brain resembling “brain-sparing effect”. Prioritization of brain growth may be protective for the adequate growth and postnatal survival of the Iberian individuals, an ancient breed reared in extensive semi-feral conditions for centuries. There were also clear sex-related differences in foetal development and metabolism in the Iberian breed. Female Iberian foetuses were similar in size and weight to male littermates but had a significantly higher relative liver to body weight ratio resembling “liver-sparing effect” and a trend for a higher relative intestine to body ratio. Moreover, the availability of triglycerides, cholesterol and IL-6 in female Iberian foetuses was similar to that of lean crossbred foetuses. Overall, these features may favour a better postnatal survival and development of females, the sex more critical for the species survival. These findings set the basis for future translational studies aimed at increasing the knowledge on the interaction between genetic and environmental factors in the early programming of the adult phenotype. PMID:23935823

  5. Sexual Dimorphisms of Adrenal Steroids, Sex Hormones, and Immunological Biomarkers and Possible Risk Factors for Developing Rheumatoid Arthritis

    PubMed Central

    Masi, Alfonse T.; Rehman, Azeem A.; Jorgenson, Laura C.; Smith, Jennifer M.; Aldag, Jean C.

    2015-01-01

    Innate immunity and immunological biomarkers are believed to be interrelated with sex hormones and other neuroendocrine factors. Sexual dimorphism mechanisms may be operating in certain rheumatic and inflammatory diseases which occur more frequently in women than men, as rheumatoid arthritis (RA). Less data have been available on altered interrelations of the combined neuroendocrine and immune (NEI) systems as risk factors for development of certain diseases. In this study, serological interrelations of NEI biomarkers are analyzed before symptomatic onset of RA (pre-RA) versus control (CN) subjects, stratified by sex. Sexual dimorphism was found in serum levels of acute serum amyloid A (ASAA), soluble interleukin-2 receptor alpha (sIL-2Rα), and soluble tumor necrosis factor receptor 1 (sTNF-R1). Multiple steroidal and hormonal (neuroendocrine) factors also showed highly (p < 0.001) significant sexual dimorphism in their assayed values, but less for cortisol (p = 0.012), and not for 17-hydroxyprogesterone (p = 0.176). After stratification by sex and risk of developing RA, differential NEI correlational patterns were observed in the interplay of the NEI systems between the pre-RA and CN groups, which deserve further investigation. PMID:26693225

  6. Anti-Müllerian Hormone and Its Clinical Use in Pediatrics with Special Emphasis on Disorders of Sex Development

    PubMed Central

    Hagen, Casper P.; Main, Katharina M.; Picard, Jean-Yves; Jørgensen, Anne; Juul, Anders

    2013-01-01

    Using measurements of circulating anti-Müllerian hormone (AMH) in diagnosing and managing reproductive disorders in pediatric patients requires thorough knowledge on normative values according to age and gender. We provide age- and sex-specific reference ranges for the Immunotech assay and conversion factors for the DSL and Generation II assays. With this tool in hand, the pediatrician can use serum concentrations of AMH when determining the presence of testicular tissue in patients with bilaterally absent testes or more severe Disorders of Sex Development (DSD). Furthermore, AMH can be used as a marker of premature ovarian insufficiency (POI) in both Turner Syndrome patients and in girls with cancer after treatment with alkylating gonadotoxic agents. Lastly, its usefulness has been proposed in the diagnosis of polycystic ovarian syndrome (PCOS) and ovarian granulosa cell tumors and in the evaluation of patients with hypogonadotropic hypogonadism. PMID:24367377

  7. Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring.

    PubMed

    Spinner, Nancy B; Saitta, Sulagna C; Delaney, Daniel P; Colliton, Raymond; Zderic, Stephen A; Ruchelli, Eduardo; Zackai, Elaine; Kolon, Thomas F

    2008-07-15

    We present a newborn infant with ovotesticular disorder of sex development and sex chromosome mosaicism with a supernumerary ring(Y), and a normal female cell line (47,XXr(Y)[10]/46,XX[40]. The ring (Y) was inherited from the child's father, and was transmitted following assisted reproductive technology and intracytoplasmic sperm injection (ICSI). The father presented with infertility and oligospermia, but cytogenetic analysis had not been carried out as part of the infertility workup. The Y containing cell line had not been seen on amniocentesis, which had shown a 46,XX apparently normal female karyotype in all cells studied. Molecular analysis using polymorphic probes from the X chromosome demonstrated that the 47,XXr(Y) cell line in the child was consistent with inheritance from the father, following meiosis I paternal non-disjunction. This report underscores the need to obtain chromosome analysis in couples with infertility who undergo assisted reproduction. PMID:18553511

  8. Sex differences in multisensory speech processing in both typically developing children and those on the autism spectrum

    PubMed Central

    Ross, Lars A.; Del Bene, Victor A.; Molholm, Sophie; Frey, Hans-Peter; Foxe, John J.

    2015-01-01

    Background: Previous work has revealed sizeable deficits in the abilities of children with an autism spectrum disorder (ASD) to integrate auditory and visual speech signals, with clear implications for social communication in this population. There is a strong male preponderance in ASD, with approximately four affected males for every female. The presence of sex differences in ASD symptoms suggests a sexual dimorphism in the ASD phenotype, and raises the question of whether this dimorphism extends to ASD traits in the neurotypical population. Here, we investigated possible sexual dimorphism in multisensory speech integration in both ASD and neurotypical individuals. Methods: We assessed whether males and females differed in their ability to benefit from visual speech when target words were presented under varying levels of signal-to-noise, in samples of neurotypical children and adults, and in children diagnosed with an ASD. Results: In typically developing (TD) children and children with ASD, females (n = 47 and n = 15, respectively) were significantly superior in their ability to recognize words under audiovisual listening conditions compared to males (n = 55 and n = 58, respectively). This sex difference was absent in our sample of neurotypical adults (n = 28 females; n = 28 males). Conclusions: We propose that the development of audiovisual integration is delayed in male relative to female children, a delay that is also observed in ASD. In neurotypicals, these sex differences disappear in early adulthood when females approach their performance maximum and males “catch up.” Our findings underline the importance of considering sex differences in the search for autism endophenotypes and strongly encourage increased efforts to study the underrepresented population of females within ASD. PMID:26074757

  9. Development and Evaluation of ‘Briefing Notes’ as a Novel Knowledge Translation Tool to Aid the Implementation of Sex/Gender Analysis in Systematic Reviews: A Pilot Study

    PubMed Central

    Doull, Marion; Welch, Vivian; Puil, Lorri; Runnels, Vivien; Coen, Stephanie E.; Shea, Beverley; O’Neill, Jennifer; Borkhoff, Cornelia; Tudiver, Sari; Boscoe, Madeline

    2014-01-01

    Background There is increasing recognition of sex/gender differences in health and the importance of identifying differential effects of interventions for men and women. Yet, to whom the research evidence does or does not apply, with regard to sex/gender, is often insufficiently answered. This is also true for systematic reviews which synthesize results of primary studies. A lack of analysis and reporting of evidence on sex/gender raises concerns about the applicability of systematic reviews. To bridge this gap, this pilot study aimed to translate knowledge about sex/gender analysis (SGA) into a user-friendly ‘briefing note’ format and evaluate its potential in aiding the implementation of SGA in systematic reviews. Methods Our Sex/Gender Methods Group used an interactive process to translate knowledge about sex/gender into briefing notes, a concise communication tool used by policy and decision makers. The briefing notes were developed in collaboration with three Cochrane Collaboration review groups (HIV/AIDS, Hypertension, and Musculoskeletal) who were also the target knowledge users of the briefing notes. Briefing note development was informed by existing systematic review checklists, literature on sex/gender, in-person and virtual meetings, and consultation with topic experts. Finally, we held a workshop for potential users to evaluate the notes. Results Each briefing note provides tailored guidance on considering sex/gender to reviewers who are planning or conducting systematic reviews and includes the rationale for considering sex/gender, with examples specific to each review group’s focus. Review authors found that the briefing notes provided welcome guidance on implementing SGA that was clear and concise, but also identified conceptual and implementation challenges. Conclusions Sex/gender briefing notes are a promising knowledge translation tool. By encouraging sex/gender analysis and equity considerations in systematic reviews, the briefing notes can assist systematic reviewers in ensuring the applicability of research evidence, with the goal of improved health outcomes for diverse populations. PMID:25372876

  10. Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.

    PubMed

    Bammens, Riet; Mehta, Nickita; Race, Valérie; Foulquier, François; Jaeken, Jaak; Tiemeyer, Michael; Steet, Richard; Matthijs, Gert; Flanagan-Steet, Heather

    2015-06-01

    The congenital disorders of glycosylation (CDG), a group of inherited diseases characterized by aberrant glycosylation, encompass a wide range of defects, including glycosyltransferases, glycosidases, nucleotide-sugar transporters as well as proteins involved in maintaining Golgi architecture, pH and vesicular trafficking. Mutations in a previously undescribed protein, TMEM165, were recently shown to cause a new form of CDG, termed TMEM165-CDG. TMEM165-CDG patients exhibit cartilage and bone dysplasia and altered glycosylation of serum glycoproteins. We utilized a morpholino knockdown strategy in zebrafish to investigate the physiologic and pathogenic functions of TMEM165. Inhibition of tmem165 expression in developing zebrafish embryos caused craniofacial abnormalities, largely attributable to fewer chondrocytes. Decreased expression of several markers of cartilage and bone development suggests that Tmem165 deficiency alters both chondrocyte and osteoblast differentiation. Glycomic analysis of tmem165 morphants also revealed altered initiation, processing and extension of N-glycans, paralleling some of the glycosylation changes noted in human patients. Collectively, these findings highlight the utility of zebrafish to elucidate pathogenic mechanisms associated with glycosylation disorders and suggest that the cartilage and bone dysplasia manifested in TMEM165-CDG patients may stem from abnormal development of chondrocytes and osteoblasts. PMID:25609749

  11. Potential coverage of circulating HPV types by current and developing vaccines in a group of women in Bosnia and Herzegovina with abnormal Pap smears.

    PubMed

    Salimović-Bešić, I; Hukić, M

    2015-09-01

    The objectives of this study were to identify human papillomavirus (HPV) genotypes in a group of Bosnian-Herzegovinian women with abnormal cytology and to assess their potential coverage by vaccines. HPVs were identified by multiplex real-time PCR test (HPV High Risk Typing Real-TM; Sacace Biotechnologies, Italy) of 105 women with an abnormal cervical Pap smear and positive high-risk (HR) HPV DNA screening test. The most common genotypes in the study were HPV-16 (32·6%, 48/147), HPV-31 (14·3%, 21/147), HPV-51 (9·5%, 14/147) and HPV-18 (7·5%, 11/147). The overall frequency of HR HPV-16 and/or HPV-18, covered by currently available vaccines [Gardasil® (Merck & Co., USA) and Cervarix®; (GlaxoSmithKline, UK)] was lower than the overall frequency of other HPVs detected in the study (40·1%, 59/174, P = 0·017). Group prevalence of HR HPVs targeted by a nine-valent vaccine in development (code-named V503) was higher than total frequency of other HPVs detected (68·0%, 100/147, P < 0·001). Development of cervical cytological abnormalities was independent of the presence of multiple infections (χ 2 = 0·598, P = 0·741). Compared to other HPVs, dependence of cervical diagnosis and HPV-16, -18 (P = 0·008) and HPV-16, -18, -31 (P = 0·008) infections were observed. Vaccines targeting HR HPV-16, -18 and -31 might be an important tool in the prevention of cervical disease in Bosnia and Herzegovina. PMID:25578155

  12. Abnormal Head Position

    MedlinePLUS

    ... cause. Can a longstanding head turn lead to any permanent problems? Yes, a significant abnormal head posture could cause permanent ... occipitocervical synostosis and unilateral hearing loss. Are there any ... postures? Yes. Abnormal head postures can usually be improved depending ...

  13. A Case of ADHD and a Major Y Chromosome Abnormality

    ERIC Educational Resources Information Center

    Mulligan, Aisling; Gill, Michael; Fitzgerald, Michael

    2008-01-01

    Background: ADHD is a common, heritable disorder of childhood. Sex chromosome abnormalities are relatively rare conditions that are sometimes associated with behavioral disorders. Method: The authors present a male child with ADHD and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the short arm.…

  14. Karyotype and identification of sex in two endangered crane species

    USGS Publications Warehouse

    Goodpasture, C.; Seluja, G.; Gee, G.

    1992-01-01

    A laboratory procedure for sex identification of monomorphic birds was developed using modern cytological methods of detecting chromosome abnormalities in human amniotic fluid samples. A pin feather is taken from a pre-fledging bird for tissue culture and karyotype analysis. Through this method, the sex was identified and the karyotype described of the whooping crane (Grus americana) and the Mississippi sandhill crane (G. canadensis pulla). Giemsa-stained karyotypes of these species showed an identical chromosome constitution with 2n = 78 + 2. However, differences in the amount of centromeric heterochromatin were observed in the Mississippi sandhill crane when compared to the whooping crane C-banded karyotype.

  15. Kinetics of fertilization and development, and sex ratio of bovine embryos produced using the semen of different bulls.

    PubMed

    Alomar, M; Tasiaux, H; Remacle, S; George, F; Paul, D; Donnay, I

    2008-08-01

    The between bulls variation in in vitro fertility and the shift of sex ratio towards male embryos are two problems affecting the in vitro production (IVP) of bovine embryos. Our objective was to evaluate the kinetics of fertilization, embryo development and the sex ratio of the resulting embryos using the frozen/thawed semen of four different bulls. In a first experiment, the kinetics of pronucleus (PN) formation was evaluated at 8, 12 and 18 h post-insemination (hpi). Based upon the pronuclei sizes and the distance between the two pronuclei, inseminated oocytes were classified in three PN stages. Differences between bulls were observed at each time point, but were more important at 12 hpi. At 8 and 12 hpi bull III showed a significantly faster PN evolution by comparison with the three other bulls (P<0.05), while at 18 hpi, the proportion of the three PN stages was similar to those of bulls I and IV, bull II being delayed. In a second experiment, the kinetics of in vitro embryo development was compared using time-lapse cinematography. The analysis of embryos reaching the blastocyst stage revealed significant differences in the mean time of first cleavage (range of 22.7-25.6h, P<0.05), while the lengths of the subsequent three cell cycles did not differ between bulls. The early mean time of first cleavage with bull III was associated with an early blastulation and a high blastocyst rate at Day 7, in opposition to what was observed with bull II showing a later timing of first cleavage (first cleavage 22.1 hpi versus 25.5 hpi; blastulation 140.4 hpi versus 152.5 hpi; D7 blastocyst rates: 31.3% versus 21.9%; P<0.05). In a third experiment, 65-76 Day 8 blastocysts per bull were sexed by PCR. Only blastocysts obtained with bull III showed a shift in sex ratio towards male embryos (76% male embryos; P<0.05). Such shift was already observed at the 2-cell and morula stages. In conclusion, the bull influences the kinetics of PN formation, of embryo development and the sex ratio of the embryos. Moreover, those parameters might be related. PMID:17629423

  16. Putting prevention in their pockets: developing mobile phone-based HIV interventions for black men who have sex with men.

    PubMed

    Muessig, Kathryn E; Pike, Emily C; Fowler, Beth; LeGrand, Sara; Parsons, Jeffrey T; Bull, Sheana S; Wilson, Patrick A; Wohl, David A; Hightow-Weidman, Lisa B

    2013-04-01

    Young black men who have sex with men (MSM) bear a disproportionate burden of HIV. Rapid expansion of mobile technologies, including smartphone applications (apps), provides a unique opportunity for outreach and tailored health messaging. We collected electronic daily journals and conducted surveys and focus groups with 22 black MSM (age 18-30) at three sites in North Carolina to inform the development of a mobile phone-based intervention. Qualitative data was analyzed thematically using NVivo. Half of the sample earned under $11,000 annually. All participants owned smartphones and had unlimited texting and many had unlimited data plans. Phones were integral to participants' lives and were a primary means of Internet access. Communication was primarily through text messaging and Internet (on-line chatting, social networking sites) rather than calls. Apps were used daily for entertainment, information, productivity, and social networking. Half of participants used their phones to find sex partners; over half used phones to find health information. For an HIV-related app, participants requested user-friendly content about test site locators, sexually transmitted diseases, symptom evaluation, drug and alcohol risk, safe sex, sexuality and relationships, gay-friendly health providers, and connection to other gay/HIV-positive men. For young black MSM in this qualitative study, mobile technologies were a widely used, acceptable means for HIV intervention. Future research is needed to measure patterns and preferences of mobile technology use among broader samples. PMID:23565925

  17. Sex-specific expression and localization of aromatase and its regulators during embryonic and larval development of Atlantic salmon.

    PubMed

    von Schalburg, Kristian R; Gowen, Brent E; Messmer, Amber M; Davidson, William S; Koop, Ben F

    2014-02-01

    The products of dax1, foxl2a and mis have each been shown to have proliferative and/or differentiative activities during mammalian organogenesis. These factors also play a role in regulating the biosynthesis of estrogen, particularly by modulating the activity of aromatase cyp19a. We demonstrate the transcription and translation of these genes during salmon embryogenesis. We were able to track sex-specific differences in these processes through accurate determination of the sex of each embryo and larva examined from genotyped microsatellites. We detected sex- and stage-specific immunolabeling of the embryonic gut, kidney, gonads, neural cord and skeletal muscle by DAX-1, FOXL2A and MIS. These results indicate the potential of these factors to mediate proliferation and/or differentiation programs during development of these tissues. As well, immunolabeling of skeletal muscle by CYP19B1 throughout the study reveals probable neurogenic activity associated with peripheral radial glial cells and the growing embryonic musculature. PMID:24239679

  18. Sex and the preimplantation embryo: implications of sexual dimorphism in the preimplantation period for maternal programming of embryonic development.

    PubMed

    Hansen, Peter J; Dobbs, Kyle B; Denicol, Anna C; Siqueira, Luiz G B

    2016-01-01

    The developmental program of the embryo displays a plasticity that can result in long-acting effects that extend into postnatal life. In mammals, adult phenotype can be altered by changes in the maternal environment during the preimplantation period. One characteristic of developmental programming during this time is that the change in adult phenotype is often different for female offspring than for male offspring. In this paper, we propose the hypothesis that sexual dimorphism in preimplantation programming is mediated, at least in part, by sex-specific responses of embryos to maternal regulatory molecules whose secretion is dependent on the maternal environment. The strongest evidence for this idea comes from the study of colony-stimulating factor 2 (CSF2). Expression of CSF2 from the oviduct and endometrium is modified by environmental factors of the mother, in particular seminal plasma and obesity. Additionally, CSF2 alters several properties of the preimplantation embryo and has been shown to alleviate negative consequences of culture of mouse embryos on postnatal phenotype in a sex-dependent manner. In cattle, exposure of preimplantation bovine embryos to CSF2 causes sex-specific changes in gene expression, interferon-? secretion and DNA methylation later in pregnancy (day 15 of gestation). It is likely that several embryokines can alter postnatal phenotype through actions directed towards the preimplantation embryo. Identification of these molecules and elucidation of the mechanisms by which sexually-disparate programming is established will lead to new insights into the control and manipulation of embryonic development. PMID:26391275

  19. Putting Prevention in Their Pockets: Developing Mobile Phone-Based HIV Interventions for Black Men Who Have Sex with Men

    PubMed Central

    Pike, Emily C.; Fowler, Beth; LeGrand, Sara; Parsons, Jeffrey T.; Bull, Sheana S.; Wilson, Patrick A.; Wohl, David A.; Hightow-Weidman, Lisa B.

    2013-01-01

    Abstract Young black men who have sex with men (MSM) bear a disproportionate burden of HIV. Rapid expansion of mobile technologies, including smartphone applications (apps), provides a unique opportunity for outreach and tailored health messaging. We collected electronic daily journals and conducted surveys and focus groups with 22 black MSM (age 18–30) at three sites in North Carolina to inform the development of a mobile phone-based intervention. Qualitative data was analyzed thematically using NVivo. Half of the sample earned under $11,000 annually. All participants owned smartphones and had unlimited texting and many had unlimited data plans. Phones were integral to participants' lives and were a primary means of Internet access. Communication was primarily through text messaging and Internet (on-line chatting, social networking sites) rather than calls. Apps were used daily for entertainment, information, productivity, and social networking. Half of participants used their phones to find sex partners; over half used phones to find health information. For an HIV-related app, participants requested user-friendly content about test site locators, sexually transmitted diseases, symptom evaluation, drug and alcohol risk, safe sex, sexuality and relationships, gay-friendly health providers, and connection to other gay/HIV-positive men. For young black MSM in this qualitative study, mobile technologies were a widely used, acceptable means for HIV intervention. Future research is needed to measure patterns and preferences of mobile technology use among broader samples. PMID:23565925

  20. Sexing young snowy owls

    USGS Publications Warehouse

    Seidensticker, M.T.; Holt, D.W.; Detienne, J.; Talbot, S.; Gray, K.

    2011-01-01

    We predicted sex of 140 Snowy Owl (Bubo scandiacus) nestlings out of 34 nests at our Barrow, Alaska, study area to develop a technique for sexing these owls in the field. We primarily sexed young, flightless owls (3844 d old) by quantifying plumage markings on the remiges and tail, predicting sex, and collecting blood samples to test our field predictions using molecular sexing techniques. We categorized and quantified three different plumage markings: two types of bars (defined as markings that touch the rachis) and spots (defined as markings that do not touch the rachis). We predicted sex in the field assuming that males had more spots than bars and females more bars than spots on the remiges and rectrices. Molecular data indicated that we correctly sexed 100% of the nestlings. We modeled the data using random forests and classification trees. Both models indicated that the number and type of markings on the secondary feathers were the most important in classifying nestling sex. The statistical models verified our initial qualitative prediction that males have more spots than bars and females more bars than spots on flight feathers P6P10 for both wings and tail feathers T1 and T2. This study provides researchers with an easily replicable and highly accurate method for sexing young Snowy Owls in the field, which should aid further studies of sex-ratios and sex-related variation in behavior and growth of this circumpolar owl species. ?? 2011 The Raptor Research Foundation, Inc.

  1. Otoacoustic emissions, auditory evoked potentials and self-reported gender in people affected by disorders of sex development (DSD).

    PubMed

    Wisniewski, Amy B; Espinoza-Varas, Blas; Aston, Christopher E; Edmundson, Shelagh; Champlin, Craig A; Pasanen, Edward G; McFadden, Dennis

    2014-08-01

    Both otoacoustic emissions (OAEs) and auditory evoked potentials (AEPs) are sexually dimorphic, and both are believed to be influenced by prenatal androgen exposure. OAEs and AEPs were collected from people affected by 1 of 3 categories of disorders of sex development (DSD) - (1) women with complete androgen insensitivity syndrome (CAIS); (2) women with congenital adrenal hyperplasia (CAH); and (3) individuals with 46,XY DSD including prenatal androgen exposure who developed a male gender despite initial rearing as females (men with DSD). Gender identity (GI) and role (GR) were measured both retrospectively and at the time of study participation, using standardized questionnaires. The main objective of this study was to determine if patterns of OAEs and AEPs correlate with gender in people affected by DSD and in controls. A second objective was to assess if OAE and AEP patterns differed according to degrees of prenatal androgen exposure across groups. Control males, men with DSD, and women with CAH produced fewer spontaneous OAEs (SOAEs) - the male-typical pattern - than control females and women with CAIS. Additionally, the number of SOAEs produced correlated with gender development across all groups tested. Although some sex differences in AEPs were observed between control males and females, AEP measures did not correlate with gender development, nor did they vary according to degrees of prenatal androgen exposure, among people with DSD. Thus, OAEs, but not AEPs, may prove useful as bioassays for assessing early brain exposure to androgens and predicting gender development in people with DSD. PMID:25038289

  2. Otoacoustic Emissions, Auditory Evoked Potentials and Self-Reported Gender in People Affected by Disorders of Sex Development (DSD)

    PubMed Central

    Wisniewski, Amy B.; Espinoza-Varas, Blas; Aston, Christopher E.; Edmundson, Shelagh; Champlin, Craig A.; Pasanen, Edward G.; McFadden, Dennis

    2014-01-01

    Both otoacoustic emissions (OAEs) and auditory evoked potentials (AEPs) are sexually dimorphic, and both are believed to be influenced by prenatal androgen exposure. OAEs and AEPs were collected from people affected by 1 of 3 categories of disorders of sex development (DSD) – (1) women with complete androgen insensitivity syndrome (CAIS); (2) women with congenital adrenal hyperplasia (CAH); and (3) individuals with 46, XY DSD including prenatal androgen exposure who developed a male gender despite initial rearing as females (men with DSD). Gender identity (GI) and role (GR) were measured both retrospectively and at the time of study participation, using standardized questionnaires. The main objective of this study was to determine if patterns of OAEs and AEPs correlate with gender in people affected by DSD and in controls. A second objective was to assess if OAE and AEP patterns differed according to degrees of prenatal androgen exposure across groups. Control males, men with DSD, and women with CAH produced fewer spontaneous OAEs (SOAEs) – the male-typical pattern – than control females and women with CAIS. Additionally, the number of SOAEs produced correlated with gender development across all groups tested. Although some sex differences in AEPs were observed between control males and females, AEP measures did not correlate with gender development, nor did they vary according to degrees of prenatal androgen exposure, among people with DSD. Thus, OAEs, but not AEPs, may prove useful as bioassays for assessing early brain exposure to androgens and predicting gender development in people with DSD. PMID:25038289

  3. Sexual quality of life of individuals with disorders of sex development and a 46,XY karyotype: a review of international research.

    PubMed

    Schonbucher, Verena; Schweizer, Katinka; Richter-Appelt, Hertha

    2010-01-01

    This article summarizes the current state of research on Sexual Quality of Life (SexQoL) of adults with 46,XY Disorders of Sex Development (DSD)/Intersexuality. An extensive literature search yield 21 studies published between 1974-2007, examining sexual aspects in individuals with 46,XY DSD. However, many of them lack methodological quality. The results are inconsistent but overall indicate that SexQoL of individuals with 46,XY DSD is impaired, particular with regard to sexual dysfunctions and sexual satisfaction. Future studies on SexQoL should focus more on qualitative aspects of sexuality and investigate medical and psychosocial risk factors such as sex-corrective surgery and parental bonding. PMID:20432122

  4. Do the Interactions between Glucocorticoids and Sex Hormones Regulate the Development of the Metabolic Syndrome?

    PubMed Central

    Alemany, Marià

    2012-01-01

    The metabolic syndrome is basically a maturity-onset disease. Typically, its manifestations begin to flourish years after the initial dietary or environmental aggression began. Since most hormonal, metabolic, or defense responses are practically immediate, the procrastinated response do not seem justified. Only in childhood, the damages of the metabolic syndrome appear with minimal delay. Sex affects the incidence of the metabolic syndrome, but this is more an effect of timing than absolute gender differences, females holding better than males up to menopause, when the differences between sexes tend to disappear. The metabolic syndrome is related to an immune response, countered by a permanent increase in glucocorticoids, which keep the immune system at bay but also induce insulin resistance, alter the lipid metabolism, favor fat deposition, mobilize protein, and decrease androgen synthesis. Androgens limit the operation of glucocorticoids, which is also partly blocked by estrogens, since they decrease inflammation (which enhances glucocorticoid release). These facts suggest that the appearance of the metabolic syndrome symptoms depends on the strength (i.e., levels) of androgens and estrogens. The predominance of glucocorticoids and the full manifestation of the syndrome in men are favored by decreased androgen activity. Low androgens can be found in infancy, maturity, advanced age, or because of their inhibition by glucocorticoids (inflammation, stress, medical treatment). Estrogens decrease inflammation and reduce the glucocorticoid response. Low estrogen (infancy, menopause) again allow the predominance of glucocorticoids and the manifestation of the metabolic syndrome. It is postulated that the equilibrium between sex hormones and glucocorticoids may be a critical element in the timing of the manifestation of metabolic syndrome-related pathologies. PMID:22649414

  5. Emergence of sex differences in the development of substance use and abuse during adolescence.

    PubMed

    Kuhn, Cynthia

    2015-09-01

    Substance use and abuse begin during adolescence. Male and female adolescent humans initiate use at comparable rates, but males increase use faster. In adulthood, more men than women use and abuse addictive drugs. However, some women progress more rapidly from initiation of use to entry into treatment. In animal models, adolescent males and females consume addictive drugs similarly. However, reproductively mature females acquire self-administration faster, and in some models, escalate use more. Sex/gender differences exist in neurobiologic factors mediating both reinforcement (dopamine, opioids) and aversiveness (CRF, dynorphin), as well as intrinsic factors (personality, psychiatric co-morbidities) and extrinsic factors (history of abuse, environment especially peers and family) which influence the progression from initial use to abuse. Many of these important differences emerge during adolescence, and are moderated by sexual differentiation of the brain. Estradiol effects which enhance both dopaminergic and CRF-mediated processes contribute to the female vulnerability to substance use and abuse. Testosterone enhances impulsivity and sensation seeking in both males and females. Several protective factors in females also influence initiation and progression of substance use including hormonal changes of pregnancy as well as greater capacity for self-regulation and lower peak levels of impulsivity/sensation seeking. Same sex peers represent a risk factor more for males than females during adolescence, while romantic partners increase risk for women during this developmental epoch. In summary, biologic factors, psychiatric co-morbidities as well as personality and environment present sex/gender-specific risks as adolescents begin to initiate substance use. PMID:26049025

  6. A New Primer for Sex Identification of Ducks and a Minimally Invasive Technique for Sampling of Allantoic Fluid to Detect Sex during Bird Embryo Development.

    PubMed

    Li, Huifang; Hu, Yan; Song, Chi; Ji, Gaige; Liu, Hongxiang; Xu, Wenjuan; Ding, Jing

    2015-01-01

    During the early incubation period of the duck, from embryonic day 1 to 13, a precise identification of the sex may be difficult. In a preliminary test, we found a defect in the use of the classical P2/P8, 1237L/1272H, and 2550F/2718R primers for chromo-helicase-DNA-binding 1 gene (CHD1) as a PCR-based test to identify sex in ducks. Therefore, universal PCR primers HPF/HPR for sexing ducks were designed. The PCR product was cloned, sequenced, and analyzed using GenBank. The effectiveness of the primers was compared using samples of blood and feathers from adult birds and chorioallantoic membranes and allantoic fluid (AF) of embryos as a source of DNA. The 495-bp CHD1-Z and the 351-bp CHD1-W PCR amplicons could be easily distinguished on a 3% agarose gel, and females (ZW) displayed 2 visible bands whereas only a single band was found in males (ZZ). The results indicated that HPF/HPR primers were highly efficient and more reliable than the classical primers used for sexing ducks. During the design of the new primers, an AF sampling technique was established to collect a very small amount of AF from free-living birds. This technique, which was minimally invasive, had no adverse effects on either embryos or the post-hatching survival of young ducks and could be used in developmental biology research in birds. PMID:25895514

  7. Adult Romantic Relationships as Contexts of Human Development: A Multimethod Comparison of Same-Sex Couples with Opposite-Sex Dating, Engaged, and Married Dyads

    ERIC Educational Resources Information Center

    Roisman, Glenn I.; Clausell, Eric; Holland, Ashley; Fortuna, Keren; Elieff, Chryle

    2008-01-01

    This article presents a multimethod, multi-informant comparison of community samples of committed gay male (n=30) and lesbian (n=30) couples with both committed (n=50 young engaged and n=40 older married) and noncommitted (n=109 exclusively dating) heterosexual pairs. Specifically, in this study the quality of same- and opposite-sex relationships…

  8. Adult Romantic Relationships as Contexts of Human Development: A Multimethod Comparison of Same-Sex Couples with Opposite-Sex Dating, Engaged, and Married Dyads

    ERIC Educational Resources Information Center

    Roisman, Glenn I.; Clausell, Eric; Holland, Ashley; Fortuna, Keren; Elieff, Chryle

    2008-01-01

    This article presents a multimethod, multi-informant comparison of community samples of committed gay male (n=30) and lesbian (n=30) couples with both committed (n=50 young engaged and n=40 older married) and noncommitted (n=109 exclusively dating) heterosexual pairs. Specifically, in this study the quality of same- and opposite-sex relationships…

  9. Androgen and the Development of Human Sex-Typical Behavior: Rough-and-Tumble Play and Sex of Preferred Playmates in Children with Congenital Adrenal Hyperplasia (CAH).

    ERIC Educational Resources Information Center

    Hines, Melissa; Kaufman, Francine R.

    1994-01-01

    Examined the rough-and-tumble play and gender of preferred playmates in three- to eight-year olds with congenital adrenal hyperplasia (CAH)--hypothesized to masculinize behaviors that show sex differences--and in unaffected three- to eight-year-old relatives. Found that CAH girls did not exhibit increased levels of masculine behavior when compared…

  10. The unintended consequences of sex education: an ethnography of a development intervention in Latin America

    PubMed Central

    Nelson, Erica; Edmonds, Alexander; Ballesteros, Marco; Encalada Soto, Diana; Rodriguez, Octavio

    2014-01-01

    This paper is an ethnography of a four-year, multi-disciplinary adolescent sexual and reproductive health intervention in Bolivia, Nicaragua and Ecuador. An important goal of the intervention – and of the larger global field of adolescent sexual and reproductive health – is to create more open parent-to-teen communication. This paper analyzes the project's efforts to foster such communication and how social actors variously interpreted, responded to, and repurposed the intervention's language and practices. While the intervention emphasized the goal of ‘open communication,’ its participants more often used the term ‘confianza’ (trust). This norm was defined in ways that might – or might not – include revealing information about sexual activity. Questioning public health assumptions about parent–teen communication on sex, in and of itself, is key to healthy sexual behavior, the paper explores a pragmatics of communication on sex that includes silence, implied expectations, gendered conflicts, and temporally delayed knowledge. PMID:25175294

  11. Risk of developing multimorbidity across all ages in an historical cohort study: differences by sex and ethnicity

    PubMed Central

    St Sauver, Jennifer L; Boyd, Cynthia M; Grossardt, Brandon R; Bobo, William V; Finney Rutten, Lila J; Roger, Véronique L; Ebbert, Jon O; Therneau, Terry M; Yawn, Barbara P; Rocca, Walter A

    2015-01-01

    Objective To study the incidence of de novo multimorbidity across all ages in a geographically defined population with an emphasis on sex and ethnic differences. Design Historical cohort study. Setting All persons residing in Olmsted County, Minnesota, USA on 1 January 2000 who had granted permission for their records to be used for research (n=123?716). Participants We used the Rochester Epidemiology Project medical records-linkage system to identify all of the county residents. We identified and removed from the cohort all persons who had developed multimorbidity before 1 January 2000 (baseline date), and we followed the cohort over 14?years (1 January 2000 through 31 December 2013). Main outcome measures Incident multimorbidity was defined as the development of the second of 2 conditions (dyads) from among the 20 chronic conditions selected by the US Department of Health and Human Services. We also studied the incidence of the third of 3 conditions (triads) from among the 20 chronic conditions. Results The incidence of multimorbidity increased steeply with older age; however, the number of people with incident multimorbidity was substantially greater in people younger than 65?years compared to people age 65?years or older (28?378 vs 6214). The overall risk was similar in men and women; however, the combinations of conditions (dyads and triads) differed extensively by age and by sex. Compared to Whites, the incidence of multimorbidity was higher in Blacks and lower in Asians. Conclusions The risk of developing de novo multimorbidity increases steeply with older age, varies by ethnicity and is similar in men and women overall. However, as expected, the combinations of conditions vary extensively by age and sex. These data represent an important first step toward identifying the causes and the consequences of multimorbidity. PMID:25649210

  12. A new computer-tomography-based method of sex estimation: Development of Turkish population-specific standards.

    PubMed

    Gulhan, Oznur; Harrison, Karl; Kiris, Adem

    2015-10-01

    The identification of victims involved in mass fatality incidents has become an increasingly important issue nowadays, and identification of unknown individuals is an important aspect in criminal cases and Disaster Victim Identification scenarios. Therefore, the sex estimation is one of the most important biological attributes towards establishing personal identity. In addition, several studies have demonstrated that metric sex determination methods of the skeleton are population-specific due to variation in size and patterns of sexual dimorphism. Unfortunately, the modern Turkish population still lacks wide and representative population standards for identification. Previous research has shown that modern technologies, such as CT scanning appear to offer promising means for the establishment of new standards for contemporary populations. The main aim of this project is to examine the application of measurements taken from the femur in order to assess sex, as well as to contribute to the establishment of discriminant function equations for the Turkish population for forensic applications. The sample population was composed of CT images taken from 200 adult hospital patients. The images of the femora were segmented from the surrounding bones to ensure correct usage of landmarks as accurately as possible. The 3D reconstructions were then created using the volume-rendering function in OsiriX (v.5.6.). Thirteen measurements were acquired using a 3D viewer and were located and marked on each of the CT reconstructed femora. Thirteen anthropometric parameters were measured and analysed by basic descriptive statistics and discriminant analysis methods using the SPSS 21.0 software package. The intra-observer variation was assessed by obtaining the inter-cross correlation coefficient in order to evaluate the accuracy of the linear measurements taken. The accuracy of sex prediction ranged from 63.5 to 88% with single variables. In stepwise analysis, Epicondylar Breadth, Femur Vertical Diameter of Neck and Medial Lateral Subtrochanteric Diameter were found to be the most discriminating variables providing an accuracy of 91%. Ultimately, it is envisaged that this research study will produce data and interpretations that will inform on and improve standards of sex estimation from postcranial osteometric landmarks. Additionally, this research will consider how this data provides value for a developing discipline of forensic anthropology and how it integrates within the existing systems of criminal investigation and Disaster Victim Identification practices in Turkey. PMID:26250530

  13. The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: a rare case with an abnormal cellular chimerism.

    PubMed

    Demyda-Peyrás, S; Anaya, G; Bugno-Poniewierska, M; Pawlina, K; Membrillo, A; Valera, M; Moreno-Millán, M

    2014-05-01

    Sex chromosome aberrations are known to cause congenital abnormalities and unexplained infertility in horses. Most of these anomalies remain undiagnosed because of the complexity of the horse karyotype and the lack of specialized laboratories that can perform such diagnoses. On the other hand, the utilization of microsatellite markers is a technique widely spread in horse breeding, mostly because of their usage in parentage tests. We studied the usage of a novel combination of diagnostic approaches in the evaluation of a very uncommon case of chromosomal abnormalities in a Spanish purebred colt, primarily detected using a commercial panel of short tandem repeat (STR) makers. Based on these results, we performed a full cytogenetic analysis using conventional and fluorescent in situ hybridization techniques with individual Equus caballus chromosome X and Equus caballus chromosome Y painting probes. We also tested the presence of two genes associated with the sexual development in horses and an extra novel panel of eight microsatellite markers specifically located in the sex chromosome pair. This is the first case report of a leukocyte chimerism between chromosomally normal (64,XY) and abnormal (63,X0) cell lines in horses. Our results indicate that the use of the short tandem repeat markers as a screening technique and as a confirmation utilizing cytogenetic techniques can be used as a very interesting, easy, and nonexpensive diagnostic approach to detect chromosomal abnormalities in the domestic horse. PMID:24612694

  14. Sex Modifies the APOE-Related Risk of Developing Alzheimer's Disease

    PubMed Central

    Altmann, Andre; Tian, Lu; Henderson, Victor W; Greicius, Michael D

    2014-01-01

    Objective The APOE4 allele is the strongest genetic risk factor for sporadic Alzheimer’s disease (AD). Case-control studies suggest the APOE4 link to AD is stronger in women. We examined the APOE4-by-sex interaction in conversion risk (from healthy aging to mild cognitive impairment (MCI)/AD or from MCI to AD) and cerebrospinal fluid (CSF) biomarker levels. Methods Cox proportional hazards analysis was used to compute hazards ratios (HR) for an APOE-by-sex interaction on conversion in controls (N=5,496) and MCI patients (N=2,588). The interaction was also tested in CSF biomarker levels of 980 subjects from the AD Neuroimaging Initiative. Results Among controls, male and female carriers were more likely to convert to MCI/AD, but the effect was stronger in women (HR=1.81 women; HR=1.27 men; interaction P=0.0106). The interaction remained significant in a pre-defined sub-analysis restricted to APOE3/3 and APOE3/4 genotypes. Among MCI patients, male and female carriers were more likely to convert to AD (HR=2.16 women; HR=1.64 men). The effect was nominally stronger in women, but the interaction was not significant (P=0.136). In the sub-analysis restricted to APOE3/3 and APOE 3/4 genotypes, the interaction was significant (P= 0.022; HR=2.17 women; HR=1.51 men). The APOE4-by-sex interaction on biomarker levels was significant for MCI patients in total-tau and the tau-to-Abeta-ratio (P=0.0088 and P=0.020, respectively; more AD-like in women). Interpretation APOE4 confers greater AD risk in women. Biomarker results suggest that increased APOE-related risk in women may be associated with tau pathology. These findings have important clinical implications and suggest novel research approaches into AD pathogenesis. PMID:24623176

  15. Expression patterns of sex-determination genes in single male and female embryos of two Bactrocera fruit fly species during early development.

    PubMed

    Morrow, J L; Riegler, M; Frommer, M; Shearman, D C A

    2014-12-01

    In tephritids, the sex-determination pathway follows the sex-specific splicing of transformer (tra) mRNA, and the cooperation of tra and transformer-2 (tra-2) to effect the sex-specific splicing of doublesex (dsx), the genetic double-switch responsible for male or female somatic development. The Dominant Male Determiner (M) is the primary signal that controls this pathway. M, as yet uncharacterized, is Y-chromosome linked, expressed in the zygote and directly or indirectly diminishes active TRA protein in male embryos. Here we first demonstrated the high conservation of tra, tra-2 and dsx in two Australian tephritids, Bactrocera tryoni and Bactrocera jarvisi. We then used quantitative reverse transcription PCR on single, sexed embryos to examine expression of the key sex-determination genes during early embryogenesis. Individual embryos were sexed using molecular markers located on the B.?jarvisi?Y-chromosome that was also introgressed into a B.?tryoni line. In B.?jarvisi, sex-specific expression of tra transcripts occurred between 3 to 6?h after egg laying, and the dsx isoform was established by 7?h. These milestones were delayed in B.?tryoni lines. The results provide a time frame for transcriptomic analyses to identify M and its direct targets, plus information on genes that may be targeted for the development of male-only lines for pest management. PMID:25116961

  16. Inactivation of ca10a and ca10b Genes Leads to Abnormal Embryonic Development and Alters Movement Pattern in Zebrafish

    PubMed Central

    Aspatwar, Ashok; Barker, Harlan R.; Saralahti, Anni K.; Bäuerlein, Carina A.; Ortutay, Csaba; Pan, Peiwen; Kuuslahti, Marianne; Parikka, Mataleena; Rämet, Mika; Parkkila, Seppo

    2015-01-01

    Carbonic anhydrase related proteins (CARPs) X and XI are highly conserved across species and are predominantly expressed in neural tissues. The biological role of these proteins is still an enigma. Ray-finned fish have lost the CA11 gene, but instead possess two co-orthologs of CA10. We analyzed the expression pattern of zebrafish ca10a and ca10b genes during embryonic development and in different adult tissues, and studied 61 CARP X/XI-like sequences to evaluate their phylogenetic relationship. Sequence analysis of zebrafish ca10a and ca10b reveals strongly predicted signal peptides, N-glycosylation sites, and a potential disulfide, all of which are conserved, suggesting that all of CARP X and XI are secretory proteins and potentially dimeric. RT-qPCR showed that zebrafish ca10a and ca10b genes are expressed in the brain and several other tissues throughout the development of zebrafish. Antisense morpholino mediated knockdown of ca10a and ca10b showed developmental delay with a high rate of mortality in larvae. Zebrafish morphants showed curved body, pericardial edema, and abnormalities in the head and eye, and there was increased apoptotic cell death in the brain region. Swim pattern showed abnormal movement in morphant zebrafish larvae compared to the wild type larvae. The developmental phenotypes of the ca10a and ca10b morphants were confirmed by inactivating these genes with the CRISPR/Cas9 system. In conclusion, we introduce a novel zebrafish model to investigate the mechanisms of CARP Xa and CARP Xb functions. Our data indicate that CARP Xa and CARP Xb have important roles in zebrafish development and suppression of ca10a and ca10b expression in zebrafish larvae leads to a movement disorder. PMID:26218428

  17. BISPHENOL A EXPOSURE DURING EARLY DEVELOPMENT INDUCES SEX-SPECIFIC CHANGES IN ADULT ZEBRAFISH SOCIAL INTERACTIONS

    PubMed Central

    Weber, Daniel N.; Hoffmann, Raymond G.; Hoke, Elizabeth S.; Tanguay, Robert L.

    2014-01-01

    Developmental bisphenol A (BPA) exposure is associated with adverse behavioral effects, although underlying modes of action remain unclear. Because BPA is a suspected xenoestrogen, the objective was to identify sex-based changes in adult zebrafish social behavior developmentally exposed to BPA (0.0, 0.1 or 1 μM) or one of two control compounds (0.1μM 17β-estradiol [E2], and 0.1 μM GSK4716, a synthetic estrogen-related receptor γ ligand). A test chamber was divided lengthwise so each arena held one fish unable to detect the presence of the other fish. A mirror was inserted at one end of each arena; baseline activity levels were determined without mirror. Arenas were divided into 3, computer-generated zones to represent different distances from mirror image. Circadian rhythm patterns were evaluated at 1–3 (= AM) and 5–8 (= PM) hr postprandial. Adult zebrafish were placed into arenas and monitored by digital camera for 5 min. Total distance traveled, % time spent at mirror image, and number of attacks on mirror image were quantified. E2, GSK4716, and all BPA treatments dampened male activity and altered male circadian activity patterns; there was no marked effect on female activity. BPA induced non-monotonic effects (response curve changes direction within range of concentrations examined) on male % time at mirror only in AM. All treatments produced increased % time at the mirror during PM. Male attacks on the mirror were reduced by BPA exposure only during AM. There were sex-specific effects of developmental BPA on social interactions and time-of-day of observation affected results. PMID:25424546

  18. Mitochondria DNA mutations cause sex-dependent development of hypertension and alterations in cardiovascular function

    PubMed Central

    Golob, Mark J.; Tian, Lian; Wang, Zhijie; Zimmerman, Todd A.; Caneba, Christine A.; Hacker, Timothy A.; Song, Guoqing; Chesler, Naomi C.

    2015-01-01

    Aging is associated with conduit artery stiffening that is a risk factor for and can precede hypertension and ventricular dysfunction. Increases in mitochondria DNA (mtDNA) frequency have been correlated with aging. Mice with a mutation in the encoding domain (D257A) of a proof-reading deficient version of mtDNA polymerase-γ (POLG) have musculoskeletal features of premature aging and a shortened lifespan. However, few studies using these mice have investigated the effects of mtDNA mutations on cardiovascular function. We hypothesized that the proof-reading deficient mtDNA POLG leads to arterial stiffening, hypertension, and ventricular hypertrophy. Ten to twelve month-old D257A mice (n=13) and age- and sex-matched wild-type controls (n=13) were catheterized for hemodynamic and ventricular function measurements. Left common carotid arteries (LCCA) were harvested for mechanical tests followed by histology. Male D257A mice had pulmonary and systemic hypertension, arterial stiffening, larger LCCA diameter (701 ± 45 vs. 597 ± 60 μm), shorter LCCA axial length (8.96 ± 0.56 vs. 10.10 ± 0.80 mm), and reduced hematocrit (29.1 ± 6.1 vs. 41.3 ± 8.1; all p<0.05). Male and female D257A mice had biventricular hypertrophy (p<0.05). Female D257A mice did not have significant increases in pressure or arterial stiffening, suggesting that the mechanisms of hypertension or arterial stiffening from mtDNA mutations differ based on sex. Our results lend insight into the mechanisms of age-related cardiovascular disease and may point to novel treatment strategies to address cardiovascular mortality in the elderly. PMID:25582357

  19. Mitochondria DNA mutations cause sex-dependent development of hypertension and alterations in cardiovascular function.

    PubMed

    Golob, Mark J; Tian, Lian; Wang, Zhijie; Zimmerman, Todd A; Caneba, Christine A; Hacker, Timothy A; Song, Guoqing; Chesler, Naomi C

    2015-02-01

    Aging is associated with conduit artery stiffening that is a risk factor for and can precede hypertension and ventricular dysfunction. Increases in mitochondria DNA (mtDNA) frequency have been correlated with aging. Mice with a mutation in the encoding domain (D257A) of a proof-reading deficient version of mtDNA polymerase-? (POLG) have musculoskeletal features of premature aging and a shortened lifespan. However, few studies using these mice have investigated the effects of mtDNA mutations on cardiovascular function. We hypothesized that the proof-reading deficient mtDNA POLG leads to arterial stiffening, hypertension, and ventricular hypertrophy. Ten to twelve month-old D257A mice (n=13) and age- and sex-matched wild-type controls (n=13) were catheterized for hemodynamic and ventricular function measurements. Left common carotid arteries (LCCA) were harvested for mechanical tests followed by histology. Male D257A mice had pulmonary and systemic hypertension, arterial stiffening, larger LCCA diameter (701±45 vs. 597±60?m), shorter LCCA axial length (8.96±0.56 vs. 10.10±0.80mm), and reduced hematocrit (29.1±6.1 vs. 41.3±8.1; all p<0.05). Male and female D257A mice had biventricular hypertrophy (p<0.05). Female D257A mice did not have significant increases in pressure or arterial stiffening, suggesting that the mechanisms of hypertension or arterial stiffening from mtDNA mutations differ based on sex. Our results lend insight into the mechanisms of age-related cardiovascular disease and may point to novel treatment strategies to address cardiovascular mortality in the elderly. PMID:25582357

  20. The Role of Chronic Hypoxia in the Development of Neurocognitive Abnormalities in Preterm Infants with Bronchopulmonary Dysplasia

    ERIC Educational Resources Information Center

    Raman, Lakshmi; Georgieff, Michael K.; Rao, Raghavendra

    2006-01-01

    Bronchopulmonary dysplasia is the most common pulmonary morbidity in preterm infants and is associated with chronic hypoxia. Animal studies have demonstrated structural, neurochemical and functional alterations due to chronic hypoxia in the developing brain. Long-term impairments in visual-motor, gross and fine motor, articulation, reading,…

  1. A review of sex differences in peer relationship processes: potential trade-offs for the emotional and behavioral development of girls and boys.

    PubMed

    Rose, Amanda J; Rudolph, Karen D

    2006-01-01

    Theory and research on sex differences in adjustment focus largely on parental, societal, and biological influences. However, it also is important to consider how peers contribute to girls' and boys' development. This article provides a critical review of sex differences in several peer relationship processes, including behavioral and social-cognitive styles, stress and coping, and relationship provisions. The authors present a speculative peer-socialization model based on this review in which the implications of these sex differences for girls' and boys' emotional and behavioral development are considered. Central to this model is the idea that sex-linked relationship processes have costs and benefits for girls' and boys' adjustment. Finally, the authors present recent research testing certain model components and propose approaches for testing understudied aspects of the model. PMID:16435959

  2. A Review of Sex Differences in Peer Relationship Processes: Potential Trade-offs for the Emotional and Behavioral Development of Girls and Boys

    PubMed Central

    Rose, Amanda J.; Rudolph, Karen D.

    2011-01-01

    Theory and research on sex differences in adjustment focus largely on parental, societal, and biological influences. However, it also is important to consider how peers contribute to girls’ and boys’ development. This paper provides a critical review of sex differences in: several peer-relationship processes, including behavioral and social-cognitive styles, stress and coping, and relationship provisions. Based on this review, a speculative peer-socialization model is presented that considers the implications of these sex differences for girls’ and boys’ emotional and behavioral development. Central to this model is the idea that sex-linked relationship processes have costs and benefits for girls’ and boys’ adjustment. Finally, we present recent research testing certain model components and propose approaches for testing understudied aspects of the model. PMID:16435959

  3. Abnormal hair follicle development and altered cell fate of follicular keratinocytes in transgenic mice expressing ?Np63?

    PubMed Central

    Romano, Rose-Anne; Smalley, Kirsten; Liu, Song; Sinha, Satrajit

    2010-01-01

    The transcription factor p63 plays an essential role in epidermal morphogenesis. Animals lacking p63 fail to form many ectodermal organs, including the skin and hair follicles. Although the indispensable role of p63 in stratified epithelial skin development is well established, relatively little is known about this transcriptional regulator in directing hair follicle morphogenesis. Here, using specific antibodies, we have established the expression pattern of ?Np63 in hair follicle development and cycling. ?Np63 is expressed in the developing hair placode, whereas in mature hair its expression is restricted to the outer root sheath (ORS), matrix cells and to the stem cells of the hair follicle bulge. To investigate the role of ?Np63 in hair follicle morphogenesis and cycling, we have utilized a Tet-inducible mouse model system with targeted expression of this isoform to the ORS of the hair follicle. ?Np63 transgenic animals display dramatic defects in hair follicle development and cycling, eventually leading to severe hair loss. Strikingly, expression of ?Np63 leads to a switch in cell fate of hair follicle keratinocytes, causing them to adopt an interfollicular epidermal (IFE) cell identity. Moreover, ?Np63 transgenic animals exhibit a depleted hair follicle stem-cell niche, which further contributes to the overall cycling defects observed in the mutant animals. Finally, global transcriptome analysis of transgenic skin identified altered expression levels of crucial mediators of hair morphogenesis, including key members of the Wnt/?-catenin signaling pathway, which, in part, account for these effects. Our data provide evidence supporting a role for ?Np63? in actively suppressing hair follicle differentiation and directing IFE cell lineage commitment. PMID:20335364

  4. Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

    PubMed Central

    Vissers, Lisenka E.L.M.; Lausch, Ekkehart; Unger, Sheila; Campos-Xavier, Ana Belinda; Gilissen, Christian; Rossi, Antonio; Del Rosario, Marisol; Venselaar, Hanka; Knoll, Ute; Nampoothiri, Sheela; Nair, Mohandas; Spranger, Jürgen; Brunner, Han G.; Bonafé, Luisa; Veltman, Joris A.; Zabel, Bernhard; Superti-Furga, Andrea

    2011-01-01

    We used whole-exome sequencing to study three individuals with a distinct condition characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. Affected individuals carried homozygous missense mutations in IMPAD1, the gene coding for gPAPP, a Golgi-resident nucleotide phosphatase that hydrolyzes phosphoadenosine phosphate (PAP), the byproduct of sulfotransferase reactions, to AMP. The mutations affected residues in or adjacent to the phosphatase active site and are predicted to impair enzyme activity. A fourth unrelated patient was subsequently found to be homozygous for a premature termination codon in IMPAD1. Impad1 inactivation in mice has previously been shown to produce chondrodysplasia with abnormal joint formation and impaired proteoglycan sulfation. The human chondrodysplasia associated with gPAPP deficiency joins a growing number of skeletoarticular conditions associated with defective synthesis of sulfated proteoglycans, highlighting the importance of proteoglycans in the development of skeletal elements and joints. PMID:21549340

  5. Neurological Soft Signs Predict Abnormal Cerebellar-Thalamic Tract Development and Negative Symptoms in Adolescents at High Risk for Psychosis: A Longitudinal Perspective

    PubMed Central

    Mittal, Vijay A.; Dean, Derek J.; Bernard, Jessica A.; Orr, Joseph M.; Pelletier-Baldelli, Andrea; Carol, Emily E.; Gupta, Tina; Turner, Jessica; Leopold, Daniel R.; Robustelli, Briana L.; Millman, Zachary B.

    2014-01-01

    Introduction: There is an emerging consensus that neurological soft signs (NSS) may not be “soft” at all but rather may reflect neuropathy, particularly in the cerebellum and thalamus. However, our understanding of connective tract abnormalities is limited, and to date, there have been no investigations examining NSS and longitudinal white matter development during the prodrome. Mapping the correlates of NSS in ultrahigh-risk (UHR) youth offers potential for highlighting a viable biomarker as well as for advancing understanding of pathogenic processes during the adolescent risk period. Methods: A total of 68 (33 UHR and 35 healthy control) adolescents were assessed with an NSS inventory, structured interviews, and diffusion tensor imaging. Fractional anisotropy (FA) of theoretically relevant cerebellar-thalamic tracts was calculated (left/right superior cerebellar peduncles [SCPs]). Twelve months later, a subset of 30 (15 UHR and 15 control) participants returned for follow-up diffusion tension imaging/clinical assessments. Results: UHR youth exhibited elevated NSS across domains. While there were no group differences in the integrity of the SCPs at baseline, controls showed a normative increase while the UHR group showed a decrease in FA over 12 months. NSS predicted a longitudinal decrease in cerebellar-thalamic FA and elevations in negative but not positive symptoms 12 months later. Discussion: Findings of abnormal white matter development provide direct empirical evidence to support prominent neurodevelopmental theories. The predictive relationships between NSS and longitudinal cerebellar-thalamic tract integrity and negative symptom course provide insight into the role of cognitive dysmetria in the high-risk period and inform on a unique biomarker tied to core features underlying psychosis. PMID:24375457

  6. Murine BAFF expression is up-regulated by estrogen and interferons: Implications for sex bias in the development of autoimmunity

    PubMed Central

    Panchanathan, Ravichandran; Choubey, Divaker

    2012-01-01

    Systemic lupus erythematosus (SLE) in patients and certain mouse models exhibits a strong sex bias. Additionally, in most patients, increased serum levels of type I interferon (IFN-?) are associated with severity of the disease. Because increased levels of B cell activating factor (BAFF) in SLE patients and mouse models are associated with the development of SLE, we investigated whether the female sex hormone estrogen (E2) and/or IFNs (IFN-? or ?) could regulate the expression of murine BAFF. We found that steady-state levels of BAFF mRNA and protein were measurably higher in immune cells (CD11b+, CD11c+, and CD19+) isolated from C57BL/6 females than the age-matched male mice. Treatment of immune cells with IFN or E2 significantly increased levels of BAFF mRNA and protein and a deficiency of estrogen receptor-?, IRF5, or STAT1 expression in splenic cells decreased expression of BAFF. Moreover, treatment of RAW264.7 macrophage cells with IFN-?, IFN-?, or E2 induced expression of BAFF. Interestingly, increased expression of p202, an IFN and estrogen-inducible protein, in RAW264.7 cells significantly increased the expression levels of BAFF and also stimulated the activity of the BAFF-luc-reporter. Accordingly, the increased expression of the p202 protein in lupus-prone B6.Nba2-ABC than non lupus-prone C57BL/6 and B6.Nba2-C female mice was associated with increased expression levels of BAFF. Together, our observations demonstrated that estrogen and IFN-induced increased levels of the p202 protein in immune cells contribute to sex bias in part through up-regulation of BAFF expression. PMID:22784990

  7. Parasites and steroid hormones: corticosteroid and sex steroid synthesis, their role in the parasite physiology and development

    PubMed Central

    Romano, Marta C.; Jiménez, Pedro; Miranda-Brito, Carolina; Valdez, Ricardo A.

    2015-01-01

    In many cases parasites display highly complex life cycles that include the penetration and permanence of the larva or adults within host organs, but even in those that only have one host, reciprocal, intricate interactions occur. Evidence indicates that steroid hormones have an influence on the development and course of parasitic infections. The host gender's susceptibility to infection, and the related differences in the immune response are good examples of the host-parasite interplay. However, the capacity of these organisms to synthesize their own steroidogenic hormones still has more questions than answers. It is now well-known that many parasites synthesize ecdysteroids, but limited information is available on sex steroid and corticosteroid synthesis. This review intends to summarize some of the existing information in the field. In most, but not all parasitosis the host's hormonal environment determines the susceptibility, the course, and severity of parasite infections. In most cases the infection disturbs the host environment, and activates immune responses that end up affecting the endocrine system. Furthermore, sex steroids and corticosteroids may also directly modify the parasite reproduction and molting. Available information indicates that parasites synthesize some steroid hormones, such as ecdysteroids and sex steroids, and the presence and activity of related enzymes have been demonstrated. More recently, the synthesis of corticosteroid-like compounds has been shown in Taenia solium cysticerci and tapeworms, and in Taenia crassiceps WFU cysticerci. In-depth knowledge of the parasite's endocrine properties will contribute to understand their reproduction and reciprocal interactions with the host, and may also help designing tools to combat the infection in some clinical situations. PMID:26175665

  8. Tooth - abnormal shape

    MedlinePLUS

    Hutchinson incisors; Abnormal tooth shape; Peg teeth; Mulberry teeth; Conical teeth ... The appearance of normal teeth varies, especially the molars. ... conditions. Specific diseases can affect tooth shape, tooth ...

  9. PCB1254 exposure contributes to the abnormalities of optomotor responses and influence of the photoreceptor cell development in zebrafish larvae.

    PubMed

    Zhang, Xin; Hong, Qin; Yang, Lei; Zhang, Min; Guo, Xirong; Chi, Xia; Tong, Meiling

    2015-08-01

    Polychlorinated biphenyls (PCBs), a group of highly toxic environmental pollutants, have been report to influence the visual system development in children. However, the underlying mechanism is unclear. The study was aim to investigate the effects of continuous PCBs exposure on optomotor response (OMR) and retinal photoreceptor cell development-related gene expression in zebrafish larvae. The fertilized zebrafish embryos were exposed to PCBs at concentrations of 0.125, 0.25, 0.5, and 1mg/L until 7 days post-fertilization. Control groups with blank and 0.01% methanol were also prepared. OMR test was used to detect the visual behavior. The mRNA expression of the CRX, RHO, SWS1, and SWS2 was assessed by the Quantitative Real-Time PCR. The OMR test showed that the visual behavior of the larvae was most sensitive when the grating spatial frequency was 0.20LP/mm and the moving speed was 25cm/s. Moreover, the proportion of positively swimming fish was significantly reduced in the 0.5 and 1mg/L PCB1254 treatment group (P<0.05) compared with the controls. In addition, the expression of SWS2 was significantly down-regulated in all PCB1254 treatment groups (P<0.05), whereas the decreased expression of the CRX, RHO and SWS1 was found in the 0.5 and 1mg/L PCB1254 groups (P<0.05). This is the first report to demonstrate that continue exposure of zebrafish larvae to PCBs causes photoreceptor cell development-related gene expression changes that lead to OMR behavioral alterations. Analysis of these visual behavioral paradigms may be useful in predicting the adverse effects of toxicants on visual function in fish. PMID:25938693

  10. Abnormalities of Endocytosis, Phagocytosis, and Development Process in Dictyostelium Cells That Over-Express Acanthamoeba castellanii Metacaspase Protein

    PubMed Central

    SAHEB, Entsar; TRZYNA, Wendy; MARINGER, Katherine; BUSH, John

    2015-01-01

    Background: Acanthamoeba castellanii forms a resistant cyst that protects the parasite against the host’s immune response. Acanthamoeba Type-I metacaspase (Acmcp) is a caspase-like protein that has been found to be expressed during the encystations. Dictyostelium discoideum is an organism closely related to Acanthamoeba useful for studying the molecular function of this protozoan caspase-like protein. Methods: The full length of Acmcp and a mutated version of the same gene, which lacks the proline rich N-terminal region (Acmcp-dpr), were cloned into the pDneo2a-GFP vector separately. The pDneo2a-GFP-Acmcp and pDneo2a-GFPAcmcp-dpr were electro-transfected into wild type D. discoideum cells to create cell lines that over-expressed Acmcp or Acmcp-dpr. Results: Both cell lines that over-expressed Acmcp and Acmcp-dpr showed a significant increase in the fluid phase internalization and phagocytosis rate compared to the control cells. Additionally, the cells expressing the Acmcp-dpr mutant were unable to initiate early development and failed to aggregate or form fruiting bodies under starvation conditions, whereas Acmcp over-expressing cells showed the opposite phenomena. Quantitative cell death analysis provided additional support for these findings. Conclusion: Acmcp is involved in the processes of endocytosis and phagocytosis. In addition, the proline rich region in Acmcp is important for cellular development in Dictyostelium. Given its important role in the development process, metacaspase protein is proposed as a candidate drug target against infections caused by A. castellanii. PMID:26246819

  11. Sex Education with Young Children.

    ERIC Educational Resources Information Center

    Koblinsky, Sally; And Others

    1980-01-01

    Discusses guidelines (developed by the Oregon State University Early Childhood Sex Education Project) for developing teacher-parent cooperation in providing sex education to young children. The guidelines concern how to talk about body differences and body functions; how to deal with masturbation, sex play and obscene language; and how to involve…

  12. Advocating Elementary Sex Education.

    ERIC Educational Resources Information Center

    McNab, Warren L.

    1981-01-01

    Sex education is an important asset to personal growth during the elementary years. Though many parents are opposed to sex education during these early years, sexual knowledge acts as an antidote to fear and does not contribute to promiscuity. New programs in sexuality and family life are presently being developed. (JN)

  13. Sex: Who Cares? Introduction.

    ERIC Educational Resources Information Center

    Liben, Lynn S.

    2000-01-01

    Presents evidence supporting claim that sex and gender are important to the explanatory as well as the descriptive goals of developmental psychology. Maintains that studying psychosocial and biological components of gender and sex helps one to develop hypotheses about causal mechanisms for developmental outcomes more generally. Introduces the…

  14. Sex: Who Cares? Introduction.

    ERIC Educational Resources Information Center

    Liben, Lynn S.

    2000-01-01

    Presents evidence supporting claim that sex and gender are important to the explanatory as well as the descriptive goals of developmental psychology. Maintains that studying psychosocial and biological components of gender and sex helps one to develop hypotheses about causal mechanisms for developmental outcomes more generally. Introduces the…

  15. Vascular endothelial growth factor A: just one of multiple mechanisms for sex-specific vascular development within the testis?

    PubMed

    Sargent, Kevin M; McFee, Renee M; Spuri Gomes, Renata; Cupp, Andrea S

    2015-11-01

    Testis development from an indifferent gonad is a critical step in embryogenesis. A hallmark of testis differentiation is sex-specific vascularization that occurs as endothelial cells migrate from the adjacent mesonephros into the testis to surround Sertoli-germ cell aggregates and induce seminiferous cord formation. Many in vitro experiments have demonstrated that vascular endothelial growth factor A (VEGFA) is a critical regulator of this process. Both inhibitors to VEGFA signal transduction and excess VEGFA isoforms in testis organ cultures impaired vascular development and seminiferous cord formation. However, in vivo models using mice which selectively eliminated all VEGFA isoforms: in Sertoli and germ cells (pDmrt1-Cre;Vegfa(-/-)); Sertoli and Leydig cells (Amhr2-Cre;Vegfa(-/-)) or Sertoli cells (Amh-Cre;Vegfa(-/-) and Sry-Cre;Vegfa(-/-)) displayed testes with observably normal cords and vasculature at postnatal day 0 and onwards. Embryonic testis development may be delayed in these mice; however, the postnatal data indicate that VEGFA isoforms secreted from Sertoli, Leydig or germ cells are not required for testis morphogenesis within the mouse. A Vegfa signal transduction array was employed on postnatal testes from Sry-Cre;Vegfa(-/-) versus controls. Ptgs1 (Cox1) was the only upregulated gene (fivefold). COX1 stimulates angiogenesis and upregulates, VEGFA, Prostaglandin E2 (PGE2) and PGD2. Thus, other gene pathways may compensate for VEGFA loss, similar to multiple independent mechanisms to maintain SOX9 expression. Multiple independent mechanism that induce vascular development in the testis may contribute to and safeguard the sex-specific vasculature development responsible for inducing seminiferous cord formation, thus ensuring appropriate testis morphogenesis in the male. PMID:26562337

  16. Abnormal pituitary development and function in three siblings of a Jamaican family: A new syndrome involving the Pit-1 gene

    SciTech Connect

    Sanchez, J.C.; Schiavi, A.; Parks, J.

    1994-09-01

    In 1967 Mckusick et al. reported three siblings in Canada who had combine pituitary hormone deficiencies (CPHD). Since that report there have been several families with multiple affected members who share the common characteristics of autosomal recessive inheritance and clinical expression of pituitary deficiencies at an early age. We report here a CPHD family of Jamaican origin with three affected and two unaffected siblings. The affected siblings have evidence of severe growth failure, growth hormone deficiency, hypothyroidism and variable prolactin deficiency. Recently, in some families with CPHD a defect has been detected in the Pit-1 gene, which encodes a transcription factor involved in the differentiation of the pituitary and the production of growth hormone, TSH and prolactin. We are studying the Pit-1 gene in this family as a candidate gene that may explain the family phenotype. The Pit-1 gene has been analyzed in DNA extracted from blood. No gross deletion were detected in exons 2, 3, 4, 5 and 6 using exon-specific PCR assay developed in our laboratory. Exon 1 is also currently being analyzed. Single stand conformational polymorphism (SSCP) analysis, a screening technique for point mutations within genes, is being used to identify putative base pair changes in the Pit-1 gene. The exon findings will be confirmed using standard DNA sequencing procedures. If a Pit-1 gene is detected, this family would provide a novel presentation, since gonadotropin deficiency appears to be present. Alternatively, this family may represent a mutation on another yet unknown factor involved in normal pituitary development.

  17. Abnormal differentiation of dopaminergic neurons in zebrafish trpm7 mutant larvae impairs development of the motor pattern

    PubMed Central

    Decker, Amanda R.; McNeill, Matthew S.; Lambert, Aaron M.; Overton, Jeffrey D.; Chen, Yu-Chia; Lorca, Ramón A.; Johnson, Nicolas A.; Brockerhoff, Susan E.; Mohapatra, Durga P.; MacArthur, Heather; Panula, Pertti; Masino, Mark A.; Runnels, Loren W.; Cornell, Robert A.

    2014-01-01

    Transient receptor potential, melastatin-like 7 (Trpm7) is a combined ion channel and kinase implicated in the differentiation or function of many cell types. Early lethality in mice and frogs depleted of the corresponding gene impedes investigation of the functions of this protein particularly during later stages of development. By contrast, zebrafish trpm7 mutant larvae undergo early morphogenesis normally and thus do not have this limitation. The mutant larvae are characterized by multiple defects including melanocyte cell death, transient paralysis, and an ion imbalance that leads to the development of kidney stones. Here we report a requirement for Trpm7 in differentiation or function of dopaminergic neurons in vivo. First, trpm7 mutant larvae are hypomotile and fail to make a dopamine-dependent developmental transition in swim-bout length. Both of these deficits are partially rescued by the application of levodopa or dopamine. Second, histological analysis reveals that in trpm7 mutants a significant fraction of dopaminergic neurons lack expression of tyrosine hydroxylase, the rate-limiting enzyme in dopamine synthesis. Third, trpm7 mutants are unusually sensitive to the neurotoxin 1-methyl-4-phenylpyridinium, an oxidative stressor, and their motility is partially rescued by application of the iron chelator deferoxamine, an anti-oxidant. Finally, in SH-SY5Y cells, which model aspects of human dopaminergic neurons, forced expression of a channel-dead variant of TRPM7 causes cell death. In summary, a forward genetic screen in zebrafish has revealed that both melanocytes and dopaminergic neurons depend on the ion channel Trpm7. The mechanistic underpinning of this dependence requires further investigation. PMID:24291744

  18. Abnormal differentiation of dopaminergic neurons in zebrafish trpm7 mutant larvae impairs development of the motor pattern.

    PubMed

    Decker, Amanda R; McNeill, Matthew S; Lambert, Aaron M; Overton, Jeffrey D; Chen, Yu-Chia; Lorca, Ramón A; Johnson, Nicolas A; Brockerhoff, Susan E; Mohapatra, Durga P; MacArthur, Heather; Panula, Pertti; Masino, Mark A; Runnels, Loren W; Cornell, Robert A

    2014-02-15

    Transient receptor potential, melastatin-like 7 (Trpm7) is a combined ion channel and kinase implicated in the differentiation or function of many cell types. Early lethality in mice and frogs depleted of the corresponding gene impedes investigation of the functions of this protein particularly during later stages of development. By contrast, zebrafish trpm7 mutant larvae undergo early morphogenesis normally and thus do not have this limitation. The mutant larvae are characterized by multiple defects including melanocyte cell death, transient paralysis, and an ion imbalance that leads to the development of kidney stones. Here we report a requirement for Trpm7 in differentiation or function of dopaminergic neurons in vivo. First, trpm7 mutant larvae are hypomotile and fail to make a dopamine-dependent developmental transition in swim-bout length. Both of these deficits are partially rescued by the application of levodopa or dopamine. Second, histological analysis reveals that in trpm7 mutants a significant fraction of dopaminergic neurons lack expression of tyrosine hydroxylase, the rate-limiting enzyme in dopamine synthesis. Third, trpm7 mutants are unusually sensitive to the neurotoxin 1-methyl-4-phenylpyridinium, an oxidative stressor, and their motility is partially rescued by application of the iron chelator deferoxamine, an anti-oxidant. Finally, in SH-SY5Y cells, which model aspects of human dopaminergic neurons, forced expression of a channel-dead variant of TRPM7 causes cell death. In summary, a forward genetic screen in zebrafish has revealed that both melanocytes and dopaminergic neurons depend on the ion channel Trpm7. The mechanistic underpinning of this dependence requires further investigation. PMID:24291744

  19. Abnormalities of sexual development in male rats with in utero and lactational exposure to the antiandrogenic plasticizer Di(2-ethylhexyl) phthalate.

    PubMed Central

    Moore, R W; Rudy, T A; Lin, T M; Ko, K; Peterson, R E

    2001-01-01

    Several members of the phthalate ester family have antiandrogenic properties, yet little is known about how exposure to these ubiquitous environmental contaminants early in development may affect sexual development. We conducted experiments to determine effects of in utero and lactational exposure to the most prevalent phthalate ester, di(2-ethylhexyl) phthalate (DEHP), on male reproductive system development and sexual behavior. Sprague-Dawley rats were dosed with corn oil or DEHP (0, 375, 750, or 1,500 mg/kg/day, per os) from gestation day 3 through postnatal day (PND) 21. Dose-related effects on male offspring included reduced anogenital distance, areola and nipple retention, undescended testes, and permanently incomplete preputial separation. Testis, epididymis, glans penis, ventral prostate, dorsolateral prostate, anterior prostate, and seminal vesicle weights were reduced at PND 21, 63, and/or 105-112. Additional dose-related effects included a high incidence of anterior prostate agenesis, a lower incidence of partial or complete ventral prostate agenesis, occasional dorsolateral prostate and seminal vesicle agenesis, reduced sperm counts, and testicular, epididymal, and penile malformations. Many DEHP-exposed males were sexually inactive in the presence of receptive control females, but sexual inactivity did not correlate with abnormal male reproductive organs. These results suggest that in utero and lactational DEHP exposure also inhibited sexually dimorphic central nervous system development. No major abnormalities were found in any of eight control litters, but DEHP caused severe male reproductive system toxicity in five of eight litters at 375 mg/kg/day, seven of eight litters at 750 mg/kg/day, and five of five litters at 1,500 mg/kg/day. These results demonstrate that the male reproductive system is far more sensitive to DEHP early in development than when animals are exposed as juveniles or adults. The effects of DEHP on male reproductive organs and sexual behaviors and the lack of significant effects on time to vaginal opening and first estrus in their littermates demonstrate that DEHP (and/or its metabolites) affects development of the male reproductive system primarily by acting as an antiandrogen. The pattern of effects of in utero and lactational DEHP exposure differed from patterns caused by other phthalate esters, and the preponderance of anterior prostate agenesis appears to be unique among all chemicals. These results suggest that DEHP acts partly by mechanisms distinct from those of other antiandrogens. PMID:11333183

  20. Assessment of electron beam-induced abnormal development and DNA damage in Spodoptera litura (F.) (Lepidoptera: Noctuidae)

    NASA Astrophysics Data System (ADS)

    Yun, Seung-Hwan; Lee, Seon-Woo; Koo, Hyun-Na; Kim, Gil-Hah

    2014-03-01

    The armyworm, Spodoptera litura (F.) is a polyphagous and important agricultural pest worldwide. In this study, we examined the effect of electron beam irradiation on developmental stages, reproduction, and DNA damage of S. litura. Eggs (0-24 h old), larvae (3rd instar), pupae (3 days old after pupation), and adults (24 h after emergence) were irradiated with electron beam irradiation of six levels between 30 and 250 Gy. When eggs were irradiated with 100 Gy, egg hatching was completely inhibited. When the larvae were irradiated, the larval period was significantly delayed, depending on the doses applied. At 150 Gy, the fecundity of adults that developed from irradiated pupae was entirely inhibited. However, electron beam irradiation did not induce the instantaneous death of S. litura adults. Reciprocal crosses between irradiated and unirradiated moths demonstrated that females were more radiosensitive than males. We also conducted the comet assay immediately after irradiation and over the following 5 days period. Severe DNA fragmentation in S. litura cells was observed just after irradiation and the damage was repaired during the post-irradiation period in a time-dependent manner. However, at more than 100 Gy, DNA damage was not fully recovered.

  1. Complex patterns of abnormal heartbeats

    NASA Technical Reports Server (NTRS)

    Schulte-Frohlinde, Verena; Ashkenazy, Yosef; Goldberger, Ary L.; Ivanov, Plamen Ch; Costa, Madalena; Morley-Davies, Adrian; Stanley, H. Eugene; Glass, Leon

    2002-01-01

    Individuals having frequent abnormal heartbeats interspersed with normal heartbeats may be at an increased risk of sudden cardiac death. However, mechanistic understanding of such cardiac arrhythmias is limited. We present a visual and qualitative method to display statistical properties of abnormal heartbeats. We introduce dynamical "heartprints" which reveal characteristic patterns in long clinical records encompassing approximately 10(5) heartbeats and may provide information about underlying mechanisms. We test if these dynamics can be reproduced by model simulations in which abnormal heartbeats are generated (i) randomly, (ii) at a fixed time interval following a preceding normal heartbeat, or (iii) by an independent oscillator that may or may not interact with the normal heartbeat. We compare the results of these three models and test their limitations to comprehensively simulate the statistical features of selected clinical records. This work introduces methods that can be used to test mathematical models of arrhythmogenesis and to develop a new understanding of underlying electrophysiologic mechanisms of cardiac arrhythmia.

  2. Assessment of abnormal blood flow and efficacy of treatment in patients with systemic sclerosis using a newly developed microwireless laser Doppler flowmeter and arm-raising test.

    PubMed

    Kido, M; Takeuchi, S; Hayashida, S; Urabe, K; Sawada, R; Furue, M

    2007-10-01

    Background Patients with systemic sclerosis (SSc) frequently suffer from recalcitrant digital ulceration because of impaired cutaneous blood flow (CBF). A simple and accurate CBF measurement would be helpful to evaluate the disease status and efficacy of treatment in such patients. Objectives To examine the feasibility of a newly developed, micromachined integrated laser blood flowmeter (MILBF) for evaluation of abnormal CBF responses in patients with SSc. Methods CBF of finger pulp was measured in eight patients with SSc and in six healthy controls using MILBF. CBF in the steady state and the responses to the arm-raising test and cold provocation were assessed. The therapeutic efficacy of a single and an intensive prostaglandin E(1) (PGE(1)) infusion treatment was also evaluated in some of the SSc patients. Results The patients with SSc showed significantly lower steady-state CBF than controls. The rate of blood flow with cold provocation and the velocity of blood flow recovery after cold provocation (VR-CP) tended to be lower in patients with SSc. Augmentation of amplitude of the digital pulse wave by arm raising (AA-AR) was observed in controls, but not in patients with SSc. We also found that VR-CP and AA-AR may be good markers for evaluating the efficacy of vasodilatory treatment. It should be noted that the examined patients did not complain of any pain and/or distress during the arm-raising test, as opposed to during cold provocation. Conclusions CBF assessment using MILBF and an arm-raising test is accurate, noninvasive and well tolerated and thus the combination may be a better alternative method to evaluate abnormal CBF and efficacy of treatment in patients with SSc. PMID:17640308

  3. Changing patterns of binocular visual connections in the intertectal system during development of the frog, Xenopus laevis. II. Abnormalities following early visual deprivation.

    PubMed

    Grant, S; Keating, M J

    1989-01-01

    During normal metamorphic and post-metamorphic growth of the frog, Xenopus laevis, there is a major and orderly remodelling of the pattern of neuronal connections in the intertectal system. These changes preserve the spatial registration of binocular visual inputs to each optic tectum in the face of continuous changes in relative eye alignment (Grant and Keating 1989). We suggested that visual experience might be utilised by the intertectal system to effect the maturational remodelling of its connections, with particular involvement in maintaining binocular visual registration. To investigate this suggestion we studied the development of the intertectal system in animals that had been reared in total darkness from before the onset of function in the system. Visual deprivation did not affect the developmental ocular migration that normally occurs in Xenopus, nor did it affect the maturation of the contralateral visuotectal projection. Abnormalities were, however, observed in the ipsilateral visuotectal projection of all dark-reared animals studied, reflecting perturbation of the underlying intertectal system. The abnormalities included disorder and deficits in the projection, which became more marked with age. Quantitative analyses of the spatial registration of binocular visual inputs to the optic tectum revealed that, in all dark-reared animals studied, registration was both significantly poorer and systematically shifted compared to normal controls. Analysis of maturational changes in the pattern of intertectal connections in visually-deprived animals led to the conclusion that intrinsic developmental processes generate an initially well-organised intertectal system and programme much of its continuous expansion with age. Visual experience, however, is necessary for the large scale and orderly remodelling of the system which, during normal maturation, preserves binocular visual registration despite changes in interocular alignment. PMID:2707345

  4. Urine - abnormal color

    MedlinePLUS

    The usual color of urine is straw-yellow. Abnormally colored urine may be cloudy, dark, or blood-colored. ... Abnormal urine color may be caused by infection, disease, medicines, or food you eat. Cloudy or milky urine is a sign ...

  5. Skeletal limb abnormalities

    MedlinePLUS

    Skeletal limb abnormalities refers to a variety of bone structure problems in the arms or legs (limbs). ... The term skeletal limb abnormalities is most often used to describe defects in the legs or arms that are due to a problem with your ...

  6. Structurally abnormal human autosomes

    SciTech Connect

    1993-12-31

    Chapter 25, discusses structurally abnormal human autosomes. This discussion includes: structurally abnormal chromosomes, chromosomal polymorphisms, pericentric inversions, paracentric inversions, deletions or partial monosomies, cri du chat (cat cry) syndrome, ring chromosomes, insertions, duplication or pure partial trisomy and mosaicism. 71 refs., 8 figs.

  7. Same sex, no sex, and unaware sex in neurotoxicology.

    PubMed

    Weiss, Bernard

    2011-10-01

    Males and females of virtually all species differ in how they respond to their environment. Because such differences exist in almost all biological realms, including disease patterns and therapeutic outcomes, they have evoked calls by various bodies to incorporate their assessment in research. Neurobehavioral indices pose special questions because, unlike outwardly visible markers, they are described by complex functional outcomes or subtle alterations in brain structure. These divergent responses arise because they are inscribed in the genome itself and then by endocrine mechanisms that govern sexual differentiation of the brain during development and operate throughout life. Other organ systems that exhibit sex differences include the liver, an important consideration for neurotoxicology because it may process many toxic chemicals differentially in males and females. Despite the scope and pervasiveness of sex differences, however, they are disregarded by much of neurotoxicology research. Males predominate in behavioral experiments, few such experiments study both sexes, some investigators fail to even describe the sex of their subjects, and in vitro studies tend to wholly ignore sex, even for model systems aimed at neurological disorders that display marked sex differences. The public is acutely aware of sex differences in behavior, as attested by its appetite for books on the topic. It closely follows debates about the proportion of women in professions that feature science and mathematics. Neurotoxicology, especially in the domain of laboratory research, will be hindered in its ability to translate its findings into human health measures if it assigns sex differences to a minor role. It must also be sensitive to how such debates are framed. Often, the differences evoking the most discussion are subtle in scope. They do not lend themselves to the typical analyses conducted by experimenters; that is, reliance on mean differences and null hypothesis testing. PMID:20875453

  8. MeCP2 Modulates Sex Differences in the Postsynaptic Development of the Valproate Animal Model of Autism.

    PubMed

    Kim, Ki Chan; Choi, Chang Soon; Kim, Ji-Woon; Han, Seol-Heui; Cheong, Jae Hoon; Ryu, Jong Hoon; Shin, Chan Young

    2016-01-01

    Males are predominantly affected by autism spectrum disorders (ASD) with a prevalence ratio of 5:1. However, the underlying pathological mechanisms governing the male preponderance of ASD remain unclear. Recent studies suggested that epigenetic aberrations may cause synaptic dysfunctions, which might be related to the pathophysiology of ASD. In this study, we used rat offspring prenatally exposed to valproic acid (VPA) as an animal model of ASD. We found male-selective abnormalities in the kinetic profile of the excitatory glutamatergic synaptic protein expressions linked to N-methyl-D-aspartate receptor (NMDAR), alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) and metabotropic glutamate receptor 5 (mGluR5) pathways in the prefrontal cortex of the VPA-exposed offspring at postnatal weeks 1, 2, and 4. Furthermore, VPA exposure showed a male-specific attenuation of the methyl-CpG-binding protein 2 (MeCP2) expressions both in the prefrontal cortex of offspring and in the gender-isolated neural progenitor cells (NPCs). In the gender-isolated NPCs culture, higher concentration of VPA induced an increased glutamatergic synaptic development along with decreased MeCP2 expression in both genders suggesting the role of MeCP2 in the modulation of synaptic development. In the small interfering RNA (siRNA) knock-down study, 50 pmol of Mecp2 siRNA inhibited the MeCP2 expression in male- but not in female-derived NPCs with concomitant induction of postsynaptic proteins such as PSD95. Taken together, we suggest that the male-inclined reduction of MeCP2 expression is involved in the abnormal development of glutamatergic synapse and male preponderance in the VPA animal models of ASD. PMID:25404090

  9. Ectopic expression of an apple apomixis-related gene MhFIE induces co-suppression and results in abnormal vegetative and reproductive development in tomato.

    PubMed

    Liu, Dan-Dan; Dong, Qing-Long; Fang, Mou-Jing; Chen, Ke-Qin; Hao, Yu-Jin

    2012-12-15

    It has been well documented that FERTILIZATION-INDEPENDENT ENDOSPERM (FIE) plays important regulatory roles in diverse developmental processes in model plant Arabidopsis thaliana. However, it is largely unknown how FIE genes function in economically important crops. In this study, MhFIE gene, which was previously isolated from apomictic tea crabapple (Malus hupehensis Redh. var. pingyiensis), was introduced into tomato. The hemizygous transgenic tomato lines produced curly leaves and decreased in seed germination. In addition, the co-suppression of the transgenic MhFIE and endogenous (SlFIE) genes occurred in homozygous transgenic tomatoes. As a result, FIE silencing brought about abnormal phenotypes during reproductive development in tomato, such as increased sepal and petal numbers in flower, a fused ovule and pistil and parthenocarpic fruit formation. A yeast two-hybrid assay and bimolecular fluorescence complementation (BiFC) demonstrated that MhFIE interacted with a tomato protein, EZ2 (SlEZ2). Its ectopic expression and SlFIE co-suppression notably influenced the expression of genes associated with leaf, flower, and fruit development. Therefore, together with other PcG proteins, FIE was involved in the regulation of vegetative and reproductive development by modulating the expression of related genes in plants. PMID:23000466

  10. [Considerations from a Children's Hospital Bioethics Committee about diagnosis and treatment of the disorders of sex development].

    PubMed

    Del Valle, Miguel; Díaz Zorita, María Isabel; Stepansky, Nuria; García Barthe, Mónica; Rodríguez, María Celeste; Sánchez, María Del Pilar; Garra, María Mabel; Cúneo, María Martha; Coglianese, Cristina; Firenze Aldeghi, Lorena; Jaureguizar, María de la Paz; Muraciole, Beatriz; Selinger, Cecilia; Chamorro, Gabriela

    2015-06-01

    Through history, diagnosis and management of sex development disorders has been very difficult due to the significant impact on affected children, their families and care takers, representing a great challenge to healthcare professionals. Nowadays, there is significant debate regarding these children's care and outcome. This discussion is not only a medical issue, but it also includes legal and ethical matters. The Bioethics Committee of the "Hospital de Niños Ricardo Gutiérrez" has been considering this conflict and discussing its different aspects. Here we share our beliefs and opinions taking into account that they should not be considered the only and whole truth. There is an open debate in which all involved people should participate. PMID:25996326

  11. Development, genetic and cytogenetic analyses of genetic sexing strains of the Mexican fruit fly, Anastrepha ludens Loew (Diptera: Tephritidae)

    PubMed Central

    2014-01-01

    Background Anastrepha ludens is among the pests that have a major impact on México's economy because it attacks fruits as citrus and mangoes. The Mexican Federal government uses integrated pest management to control A. ludens through the Programa Nacional Moscas de la Fruta [National Fruit Fly Program, SAGARPA-SENASICA]. One of the main components of this program is the sterile insect technique (SIT), which is used to control field populations of the pest by releasing sterile flies. Results To increase the efficiency of this technique, we have developed a genetic sexing strain (GSS) in which the sexing mechanism is based on a pupal colour dimorphism (brown-black) and is the result of a reciprocal translocation between the Y chromosome and the autosome bearing the black pupae (bp) locus. Ten strains producing wild-type (brown pupae) males and mutant (black pupae) females were isolated. Subsequent evaluations for several generations were performed in most of these strains. The translocation strain named Tapachula-7 showed minimal effect on survival and the best genetic stability of all ten strains. Genetic and cytogenetic analyses were performed using mitotic and polytene chromosomes and we succeeded to characterize the chromosomal structure of this reciprocal translocation and map the autosome breakpoint, despite the fact that the Y chromosome is not visible in polytene nuclei following standard staining. Conclusions We show that mitotic and polytene chromosomes can be used in cytogenetic analyses towards the development of genetic control methods in this pest species. The present work is the first report of the construction of GSS of Anastrepha ludens, with potential use in a future Moscafrut operational program. PMID:25472896

  12. Abnormal peripubertal development of the rat mammary gland following exposure in utero and during lactation to a mixture of genistein and the food contaminant vinclozolin.

    PubMed

    El Sheikh Saad, H; Meduri, G; Phrakonkham, P; Bergès, R; Vacher, S; Djallali, M; Auger, J; Canivenc-Lavier, M C; Perrot-Applanat, M

    2011-07-01

    The impact of early exposure to endocrine disruptor mixtures on mammary gland development is poorly known. Here, we identify the effects of a conception to weaning exposure of rats to the phytoestrogen genistein (G) and/or the antiandrogen vinclozolin (V) at 1mg/kg-d, alone or in association. Using several approaches, we found that G- and GV-exposed rats displayed significantly greater epithelial branching and proliferation, wider terminal end buds than controls at PND35, as well as ductal hyperplasia and periductal fibrosis. Focal branching defects were present in V-exposed rats. An increased ER and AR expression was observed in G- and GV- as compared to V-exposed rats at PND35. Surprisingly, a significant number of GV- and to a lesser extent, V-exposed animals displayed abnormal hyperplasic alveolar structures at PND50. Thus, gestational and lactational exposure to low doses of genistein plus vinclozolin may seriously affect peripubertal development of the rat mammary gland. PMID:21539910

  13. NEW FRONTIER IN UNDERSTANDING THE MECHANISMS OF DEVELOPMENTAL ABNORMALITIES

    EPA Science Inventory

    Recent advancements in molecular developmental biology afford an opportunity to apply newly developed tools for understanding the mechanisms of both normal and abnormal development. lthough a number of agents have been identified as causing developmental abnormalities, knowledge ...

  14. AKAP13 Rho-GEF and PKD-Binding Domain Deficient Mice Develop Normally but Have an Abnormal Response to ?-Adrenergic-Induced Cardiac Hypertrophy

    PubMed Central

    Spindler, Matthew J.; Burmeister, Brian T.; Huang, Yu; Hsiao, Edward C.; Salomonis, Nathan; Scott, Mark J.; Srivastava, Deepak; Carnegie, Graeme K.; Conklin, Bruce R.

    2013-01-01

    Background A-kinase anchoring proteins (AKAPs) are scaffolding molecules that coordinate and integrate G-protein signaling events to regulate development, physiology, and disease. One family member, AKAP13, encodes for multiple protein isoforms that contain binding sites for protein kinase A (PKA) and D (PKD) and an active Rho-guanine nucleotide exchange factor (Rho-GEF) domain. In mice, AKAP13 is required for development as null embryos die by embryonic day 10.5 with cardiovascular phenotypes. Additionally, the AKAP13 Rho-GEF and PKD-binding domains mediate cardiomyocyte hypertrophy in cell culture. However, the requirements for the Rho-GEF and PKD-binding domains during development and cardiac hypertrophy are unknown. Methodology/Principal Findings To determine if these AKAP13 protein domains are required for development, we used gene-trap events to create mutant mice that lacked the Rho-GEF and/or the protein kinase D-binding domains. Surprisingly, heterozygous matings produced mutant mice at Mendelian ratios that had normal viability and fertility. The adult mutant mice also had normal cardiac structure and electrocardiograms. To determine the role of these domains during ?-adrenergic-induced cardiac hypertrophy, we stressed the mice with isoproterenol. We found that heart size was increased similarly in mice lacking the Rho-GEF and PKD-binding domains and wild-type controls. However, the mutant hearts had abnormal cardiac contractility as measured by fractional shortening and ejection fraction. Conclusions These results indicate that the Rho-GEF and PKD-binding domains of AKAP13 are not required for mouse development, normal cardiac architecture, or ?-adrenergic-induced cardiac hypertrophic remodeling. However, these domains regulate aspects of ?-adrenergic-induced cardiac hypertrophy. PMID:23658642

  15. Mortality from congenital abnormality in Malaysia 1991-1997: the effect of economic development on death due to congenital heart disease.

    PubMed

    Ho, J J

    2001-06-01

    An analysis was done of available data from the Department of Statistics Malaysia, on the type of congenital abnormality contributing to death, to determine whether progress in health care over recent years was associated with any decline in mortality from congenital abnormality. A significant decline in death due to congenital abnormality was observed between 1991 and 1996. This was attributable to a decline in deaths due to congenital heart disease occurring because of improvements in cardiac surgical services for infants. In 1997 death due to congenital heart disease increased significantly. This could be attributed to improvements in the diagnosis of congenital heart disease in the neonate. PMID:11771084

  16. Sex-specific gene expression during asexual development of Neurospora crassa

    PubMed Central

    Wang, Zheng; Kin, Koryu; Lopez-Giraldez, Francesc; Johannesson, Hanna; Townsend, Jeffrey P.

    2012-01-01

    The impact of loci that determine sexual identity upon the asexual, dominant stage of fungal life history has been well studied. To investigate their impact, expression differences between strains of different mating type during asexual development were assayed, with RNA sampled from otherwise largely isogenic mat A and mat a strains of Neurospora crassaat early, middle, and late clonal stages of development. We observed significant differences in overall gene expression between mating types across clonal development, especially at late development stages. The expression levels of mating-type genes and pheromone genes were assayed by reverse transcription and quantitative PCR, revealing expression of pheromone and receptor genes instrains of both mating types in all development stages, and revealing that mating type (mat) genes were increasingly expressed over the course of asexual development. Interestingly, among differentially expressed genes, the mat A genotype more frequently exhibited a higher expression level than mat a, and demonstrated greater transcriptional regulatory dynamism. Significant up-regulation of expression was observed for many late light-responsive genes at late asexual development stages. Further investigation of the impact of light and the roles of light response genes in asexual development of both mating types are warranted. PMID:22626843

  17. Moral Development in Adulthood: Its Relationship to Age, Sex, and Education.

    ERIC Educational Resources Information Center

    Bakken, Linda; Ellsworth, Randy

    1990-01-01

    The relationships of age, gender, and educational level with moral development in 94 middle-class 28- to 55-year-old adults (32 males and 62 females) were studied. Subjects were administered Kohlberg's Moral Judgment Interview (MJI). Males scored higher on the MJI than females. Findings support the continued development of moral judgment through…

  18. Sex differences in stroke

    PubMed Central

    Haast, Roy A M; Gustafson, Deborah R; Kiliaan, Amanda J

    2012-01-01

    Sex differences in stroke are observed across epidemiologic studies, pathophysiology, treatments, and outcomes. These sex differences have profound implications for effective prevention and treatment and are the focus of this review. Epidemiologic studies reveal a clear age-by-sex interaction in stroke prevalence, incidence, and mortality. While premenopausal women experience fewer strokes than men of comparable age, stroke rates increase among postmenopausal women compared with age-matched men. This postmenopausal phenomenon, in combination with living longer, are reasons for women being older at stroke onset and suffering more severe strokes. Thus, a primary focus of stroke prevention has been based on sex steroid hormone-dependent mechanisms. Sex hormones affect different (patho)physiologic functions of the cerebral circulation. Clarifying the impact of sex hormones on cerebral vasculature using suitable animal models is essential to elucidate male–female differences in stroke pathophysiology and development of sex-specific treatments. Much remains to be learned about sex differences in stroke as anatomic and genetic factors may also contribute, revealing its multifactorial nature. In addition, the aftermath of stroke appears to be more adverse in women than in men, again based on older age at stroke onset, longer prehospital delays, and potentially, differences in treatment. PMID:23032484

  19. Abnormal Uterine Bleeding

    MedlinePLUS

    ... Abnormal uterine bleeding is any bleeding from the uterus (through your vagina) other than your normal monthly ... or fibroids (small and large growths) in the uterus can also cause bleeding. Rarely, a thyroid problem, ...

  20. "Jeopardy" in Abnormal Psychology.

    ERIC Educational Resources Information Center

    Keutzer, Carolin S.

    1993-01-01

    Describes the use of the board game, Jeopardy, in a college level abnormal psychology course. Finds increased student interaction and improved application of information. Reports generally favorable student evaluation of the technique. (CFR)

  1. Sex Offenders.

    ERIC Educational Resources Information Center

    Hayes, Susan

    1991-01-01

    This paper on the problem of sex offending among individuals with intellectual disabilities examines the incidence of this problem, characteristics of intellectually disabled sex offenders, determination of whether the behavior is a paraphilia or functional age-related behavior, and treatment options, with emphasis on the situation in New South…

  2. Sex Stereotyping.

    ERIC Educational Resources Information Center

    Rivas, Richard G.

    This article uses findings from several previous studies to define the kinds of sex stereotyping present in our society. The author considers sex roles as dealt with in children's literature, public schools, advertising, and vocational counseling. He describes, in particular, the situation at an unnamed state university, and cites the woman's…

  3. Sex-related long-term behavioral and hippocampal cellular alterations after nociceptive stimulation throughout postnatal development in rats.

    PubMed

    Lima, Márcia; Malheiros, Jackeline; Negrigo, Aline; Tescarollo, Fabio; Medeiros, Magda; Suchecki, Deborah; Tannús, Alberto; Guinsburg, Ruth; Covolan, Luciene

    2014-02-01

    Early noxious stimuli may alter the neurogenesis rate in the dentate gyrus and the behavioral repertoire of adult rats. This study evaluated the long-term effects of noxious stimulation, imposed in different phases of development, on nociceptive and anxiety-like behaviors, hippocampal activation, cell proliferation, hippocampal BDNF and plasma corticosterone levels in 40 day-old male and female adolescents. Noxious stimulation was induced by intra-plantar injection of Complete Freund's adjuvant (CFA), on postnatal days (P) 1 (group P1), 8 (P8) or 21 (P21). Control animals were not stimulated in any way. On P21 a subset of animals from each group received BrdU and was perfused on P40 for identification of proliferating cells in the granule cell layer of the dentate gyrus. Another subset of rats was subjected to behavioral testing on P40 and one week later, to magnetic resonance imaging (MRI) acquisition. Noxious stimulation evoked hypoalgesia in adolescents, mainly in females (P < 0.02), reflected by greater latency to withdraw the paw and less paw lickings in the hot plate test than controls (P < 0.001). It also resulted in more time spent in the open arms, e.g., less anxiety-like behavior than controls (P < 0.01), especially in females (P < 0.01, compared with males). Proliferative cell rate in the dentate gyrus was the highest in P8 males and females (P < 0.001), with males exhibiting more proliferation than females on P1 and P8, which was directly related to the hippocampal levels of BDNF and inversely related to plasma corticosterone. Sex differences were also detected in manganese-enhanced MRI signal, which was more prominent in P1 females than males (P < 0.01). This study represents the first step of investigation on the cellular basis of the sex-dependent long-term consequences of nociceptive stimuli in newborns. PMID:24148811

  4. Sex differences in the ontogeny of CRF receptors during adolescent development in the dorsal raphe nucleus and ventral tegmental area.

    PubMed

    Lukkes, Jodi L; Norman, Kevin J; Meda, Shirisha; Andersen, Susan L

    2016-03-01

    Interactions between corticotropin-releasing factor (CRF) and monoaminergic systems originating from the dorsal raphe nucleus (DR) and ventral tegmental area (VTA) have been implicated in the etiology and pathophysiology of several stress-related neuropsychiatric disorders such as depression and substance abuse. Sub-regions within the DR and VTA give rise to specific projections that have unique roles in limbic- and reward-related behaviors. Given that these disorders typically emerge during adolescence, it is surprising that few studies have examined the age-, sex-, and region-dependent expression of CRF receptors throughout multiple stages of adolescence in these stress-relevant circuits. To determine the ontogeny of CRF receptors during adolescent development, three regions of the DR (dorsal, caudal, and ventrolateral parts) and the posterior VTA were microdissected from Sprague-Dawley male and female rats on postnatal day (P) 25, P35, P42, P56, and P90. Tissue was processed and analyzed with qRT-PCR to measure CRF1 and CRF2 receptors. The serotonin and catecholamine enzymes in the DR and VTA, tryptophan hydroxylase 2 (TPH2) and tyrosine hydroxylase, respectively, were also analyzed for maturational differences. This study identified that CRF1 receptors are lower in males than females within the dorsal, ventrolateral region of the DR (DRVL), which is involved in anxiety-, stress-, and panic-related responses. Females had higher CRF2 receptors compared to males in the DRVL only. Levels of TPH2 mRNA in the DRVL were overproduced transiently in females before declining into adulthood. These fundamental studies suggest that sex differences in CRF receptors should be considered when examining stress-related neuropsychiatric disorders and their treatment. Synapse 70:125-132, 2016. © 2016 Wiley Periodicals, Inc. PMID:26696011

  5. Examination of Sex Differences in a Large Sample of Young Children with Autism Spectrum Disorder and Typical Development

    ERIC Educational Resources Information Center

    Reinhardt, Vanessa P.; Wetherby, Amy M.; Schatschneider, Christopher; Lord, Catherine

    2015-01-01

    Despite consistent and substantive research documenting a large male to female ratio in Autism Spectrum Disorder (ASD), only a modest body of research exists examining sex differences in characteristics. This study examined sex differences in developmental functioning and early social communication in children with ASD as compared to children with…

  6. An Action Research Project to Assess Middle School Educators' Professional Development Needs in Single-Sex Classrooms

    ERIC Educational Resources Information Center

    Simm, Lynnette Marie Gresham

    2010-01-01

    According to the National Association of Single-Sex Public Education (NASSPE, 2010), an increase of 540 public schools offering single-sex classrooms in the United States has occurred since 2001. Educators who understand the gender differences between boys and girls can inspire students to learn to the best of their ability; however, the problem…

  7. Biochemistry and haematology values for the baboon (Papio hamadryas): the effects of sex, growth, development and age.

    PubMed

    Harewood, W J; Gillin, A; Hennessy, A; Armistead, J; Horvath, J S; Tiller, D J

    1999-02-01

    A retrospective study evaluated the influence of sex and age on plasma biochemistry and haematology parameters in a captive-bred colony of baboons. Over 1,140 ETDA and heparin blood samples were obtained from 160 clinically normal baboons between the ages of 11 months and 11 years. Data for these blood tests were analysed for the effects of sex, age and sex age interactions. Sex, age and sex age interactions were detected for many plasma biochemistry and haematological parameters. The reference range values for platelets, white-blood cells and mean corpuscular volume and plasma chloride, glucose, total protein and iron were higher (P < 0.01) and red blood cell, plasma sodium, potassium, total CO2, creatinine, urea, total bilirubin, albumin, alkaline phosphate, gamma glutamyl transpeptidase and phosphate were lower (P < 0.01) in the female compared to the male population. Sex age interactions (P < 0.05) were seen with haemoglobin, white blood cells, haematocrit, mean corpuscular volume, sodium, creatinine, urea, calcium, phosphate, total bilirubin, total protein alkaline phosphatase, the liver enzymes and triglycerides. Plasma alkaline phosphatase was highest ( > 800 micro/l) in young juveniles of both sexes; creatinine was higher in older ( > 4 years) compared to younger baboons of the same sex (P < 0.05). Plasma cholesterol and triglycerides were greater (P < 0.01) in young baboons compared to older animals. PMID:10372537

  8. Examination of Sex Differences in a Large Sample of Young Children with Autism Spectrum Disorder and Typical Development

    ERIC Educational Resources Information Center

    Reinhardt, Vanessa P.; Wetherby, Amy M.; Schatschneider, Christopher; Lord, Catherine

    2015-01-01

    Despite consistent and substantive research documenting a large male to female ratio in Autism Spectrum Disorder (ASD), only a modest body of research exists examining sex differences in characteristics. This study examined sex differences in developmental functioning and early social communication in children with ASD as compared to children with…

  9. Efficiency of responding to unexpected information varies with sex, age, and pubertal development in early adolescence

    PubMed Central

    Brumback, Ty; Arbel, Yael; Donchin, Emanuel; Goldman, Mark S.

    2014-01-01

    Entry into adolescence is marked by dramatic changes resulting from a dynamic interplay among biological and psychosocial processes. Despite the complexity, development is often indexed only by age in ERP studies. To broaden this approach, we address the effects of gender and pubertal development, along with age, in adolescents using a psychophysiological probe of decision making, the P300 component. Overall, females exhibited shorter P300 latencies and smaller P300 amplitudes compared to males, suggesting more efficient information processing. In both genders, P300 latency and amplitude also diminished as age and pubertal status increased, again suggesting increasing efficiency of information processing with development. Our findings highlight the necessity of considering more than age when examining cognitive functioning in adolescents, and in particular, the necessity of considering gender whenever developmental issues are addressed. PMID:22846050

  10. Sex-specific control of flurothyl-induced tonic-clonic seizures by the substantia nigra pars reticulata during development.

    PubMed

    Velísek, Libor; Velísková, Jana; Giorgi, Filippo S; Moshé, Solomon L

    2006-09-01

    The substantia nigra pars reticulata (SNR) plays an important age- and sex-specific role in control of clonic seizures. Its involvement in control of tonic-clonic seizures is contradictory. We investigated the role of the SNR in the tonic-clonic seizures induced in male, female and neonatally castrated male rats using flurothyl. In adult female rats, vaginal impedance determined the changes in progesterone/estrogen ratio. Rats at various postnatal ages received infusions of muscimol or vehicle in the SNRanterior or SNRposterior. Furthermore, in 15-day-old (P15) and adult male rats, ZAPA (a GABA(A) receptor agonist) or AP7 (an NMDA receptor antagonist) was infused. The developmental profile of tonic-clonic seizure threshold differed between male and female rats possibly due to early postnatal testosterone surge in male rats. On the other hand, changing estrogen/progesterone ratio in cycling adult female rats had no effect on seizure threshold. Intranigral muscimol had proconvulsant effects on tonic-clonic seizures only in immature rats, and this effect was dependent on the perinatal testosterone surge. ZAPA had anticonvulsant effects in P15 rats but was not effective in adult rats. Only AP7 had anticonvulsant effects in both adult and P15 rats. Results indicate that thresholds for flurothyl-induced tonic-clonic seizures develop under the control of postnatal testosterone. Although GABAergic inhibition in the SNR affects tonic-clonic seizures in developing rats, only the NMDA antagonist had consistent anticonvulsant effects throughout development. PMID:16730708

  11. Let's Talk about Sex: Development of a Sexual Health Program for Nepali Women

    ERIC Educational Resources Information Center

    Kaufman, Michelle R.; Harman, Jennifer J.; Shrestha, Deepti Khati

    2012-01-01

    The purpose of this study was to develop and test the feasibility of conducting a sexual health intervention for women in Nepal, a country with high political and economic instability and strong patriarchal systems. Of the 88 women enrolled, 100% retention was obtained over three sessions, and 85% completed a 1-month follow-up. Recruitment was so…

  12. Sex, Drugs and STDs: Preliminary Findings from the Belfast Youth Development Study

    ERIC Educational Resources Information Center

    McAloney, Kareena; McCrystal, Patrick; Percy, Andrew

    2010-01-01

    Young people's participation in sexual risk behaviours is commonly linked with participation in a range of other risky behaviours, and in particular with substance use behaviours. This cross-sectional analysis of the sixth sweep of the Belfast Youth Development Study aimed to examine associations between substance use and sexual activity and…

  13. Predictors of Morphosyntactic Growth in Typically Developing Toddlers: Contributions of Parent Input and Child Sex

    ERIC Educational Resources Information Center

    Hadley, Pamela A.; Rispoli, Matthew; Fitzgerald, Colleen; Bahnsen, Alison

    2011-01-01

    Purpose: Theories of morphosyntactic development must account for between-child differences in morphosyntactic growth rates. This study extends Legate and Yang's (2007) theoretically motivated cross-linguistic approach to determine if variation in properties of parent input accounts for differences in the growth of tense productivity. Method:…

  14. Predictors of Morphosyntactic Growth in Typically Developing Toddlers: Contributions of Parent Input and Child Sex

    ERIC Educational Resources Information Center

    Hadley, Pamela A.; Rispoli, Matthew; Fitzgerald, Colleen; Bahnsen, Alison

    2011-01-01

    Purpose: Theories of morphosyntactic development must account for between-child differences in morphosyntactic growth rates. This study extends Legate and Yang's (2007) theoretically motivated cross-linguistic approach to determine if variation in properties of parent input accounts for differences in the growth of tense productivity. Method:…

  15. The Tribolium castaneum ortholog of Sex combs reduced controls dorsal ridge development

    Technology Transfer Automated Retrieval System (TEKTRAN)

    In insects, the boundary between the embryonic head and thorax is formed by the dorsal ridge, a fused structure composed of portions of the maxillary and labial segments. However, the mechanisms that promote development of this unusual structure remain a mystery. In Drosophila, mutations in the Hox ...

  16. Sex, Drugs and STDs: Preliminary Findings from the Belfast Youth Development Study

    ERIC Educational Resources Information Center

    McAloney, Kareena; McCrystal, Patrick; Percy, Andrew

    2010-01-01

    Young people's participation in sexual risk behaviours is commonly linked with participation in a range of other risky behaviours, and in particular with substance use behaviours. This cross-sectional analysis of the sixth sweep of the Belfast Youth Development Study aimed to examine associations between substance use and sexual activity and…

  17. Sex, Literacy and Videotape: Learning, Identity and Language Development through Documentary Production with "Overage" Students

    ERIC Educational Resources Information Center

    Goodman, Steven

    2010-01-01

    This case study examines the learning, identity and language development experienced by "overage" 8th-grade students who have been left behind two or more years in their New York City middle school and are participating in an extended-day video documentary program. The students practise a range of literacy skills naturally embedded in the…

  18. Gonadal Development, Spawning and Plasma Sex Steroid Levels of the Indoor Cultured Grunt, Hapalogenys nitens

    PubMed Central

    Kang, Hee Woong; Cho, Jae-Kwon; Son, Maeng-Hyun; Park, Jong Youn; Hong, Chang Gi; Chung, Jae Seung; Chung, Ee-Yung

    2015-01-01

    The gonadosomatic index (GSI), gonadal development and changes in hormones in plasma level of the indoor cultured grunt (Hapalogenys nitens) were investigated by histological study from August 2011 to October 2012. The GSI showed similar trends with gonad developmental stages during the culture periods. Changes in plasma level of estradiol-17? of female H. nitens reached the highest value before the spawning period, and seasonal changes in plasma level of estradiol-17? were similar in trends of oocyte developments and GSI changes. Testosterone levels of male H. nitens reached the highest value before and after the spent stage. Ovarian developmental stages of H. nitens could be classified into early growing stage, late growing stage, mature stage, ripe and spawning stage, recovery and resting stage. The testicular developmental stages could be divided into growing stage, mature stage, ripe and spent stage, and recovery and resting stage. PMID:25949208

  19. Chromosome abnormalities as a cause of infertility in mares.

    PubMed

    Chandley, A C; Fletcher, J; Rossdale, P D; Peace, C K; Ricketts, S W; McEnery, R J; Thorne, J P; Short, R V; Allen, W R

    1975-10-01

    Chromosomal abnormalities have been detected in seven mares isolated by their poor reproductive performance. All had small or rudimentary gonads and absent or irregular oestrous cycles. Two mares had an XO genotype, one was a 65,XXX female and another a 64,XY sex-reversed female. Two other mares were sex chromosome mosaics of the 63,X/64,XX type. The seventh mare showed a normal female karyotype but a small extra autosomal fragment was found in a few cells. PMID:1060811

  20. AB020. What is advance in molecular diagnosis for 46,XY and 46,XX testicular disorder of sex development?

    PubMed Central

    Dũng, Vũ Chí; Khánh, Nguyễn Ngọc; Thảo, Bùi Phương; Ngọc, Cấn Thị Bích; Đạt, Nguyễn Phú; Dung, Le Anh; Kon, Masafumi; Igarashi, Maki; Fukami, Maki

    2015-01-01

    Background The disorders of sex development (DSD) are defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. It is estimated that genital anomalies occur in 1 in 4,500 births but 1:125 boys has hypospadias. There are three broad groups: 46,XX DSD, 46,XY DSD and sex chromosome aneuploidy DSD. Recently, exome sequencing followed by analysis with a list of all known human DSD-associated genes was used to investigate the underlying genetic etiology of 46,XY DSD patients who had not previously received a genetic diagnosis (E. C. Delot et al. ASHG meeting 2014). The authors identified a likely genetic diagnosis in more than a third of cases, including 22.5% with a pathogenic finding and an additional 12.5% with likely pathogenic findings. In addition, 15% had variants of uncertain clinical significance that may be reclassified as literature evolves. Objective To identify mutations in causative/candidate/susceptibility genes in patients with 46,XY DSD and 46,XX testicular DSD including AR, ATF3, BMP4, BMP7, BNC2, CTGF, CYP1A1, CYR61, DGKK, EGF, ESR1, ESR2, FGF8, FGFR2, GSTM1, GSTT1, HOXA4, HOXB6, HSD3B2, HSD17B3, MAMLD1, MID1, NR5A1 (alias SF1), SRD5A2, and WT1 genes. And to clarify the role of cryptic rearrangements in the development of 46,XY DSD in Vietnamese patients. Patients and methods A total of 61 cases with 46, XY were performed mutation analysis using PCR, next generation sequencing. Eight patients with 46, XX testicular DSD were analysed using whole genome and exome sequencing and 6 cases with 46, XY DSD associated with mental retardation and/or other congenital malformations were diagnosed molecular using CGH. Genomic DNA was extracted from lymphocytes of peripheral blood. Results and conclusions Two cases with primary adrenal insufficiency and 46,XY DSD from two unrelated families were identified novel homozygous mutation in HSD3B2 [c.481G>C (p.A161P)]. One case with simple hypospadias without adrenal insufficiency was identified mutation in HSD3B2 (p.A10T) gene. Six different causative mutations including 3 novel ones of AR gene were identified in 9 patients with androgen insensitivity syndrome [p.L701F (c.2103G>T); p.L705F (c.2113C>T); p. W752S (c. 2256 G>T); p.V747M (c.2239 G>A); p.V867M (c.2599 G>A) and p.Q28X (c.82C>T)]. Three causative mutations of SRD5A gene (coding for 5-alpha reductase) (p.S220L; p.R237G and p.R227Q) were identified in three patients from three unrelated families. Six cases with 46,XY DSD associated with mental retardation and/or other congenital malformation were identified cryptic rearrangements; 2 cases with 46,XX testicular DSD were identified duplication in SOX9. Advances in identification of molecular genetic causes of DSD will help confirmation of diagnosis, appropriate treatment and genetic counseling.

  1. The course of thyroid abnormalities during lithium treatment: a two-year follow-up study.

    PubMed

    Bocchetta, A; Bernardi, F; Burrai, C; Pedditzi, M; Loviselli, A; Velluzzi, F; Martino, E; Del Zompo, M

    1992-07-01

    A total of 116 patients on lithium treatment were followed up for 2 years to determine the course and the clinical relevance of thyroid abnormalities. Elevated thyroid-stimulating hormone (TSH) concentrations were transitory in most patients, except those with serum antithyroid antibodies. The patients who initially had microsomal antibodies remained positive, with an increase in titre in two-thirds of cases. Three young patients of both sexes developed thyroid autoimmunity early in the treatment. The risk of developing hypothyroidism was higher in women, especially in the presence of antibodies. TSH concentrations were significantly lower when carbamazepine was combined with lithium. PMID:1414397

  2. Multifinality in the Development of Personality Disorders: A Biology × Sex × Environment Interaction Model of Antisocial and Borderline Traits

    PubMed Central

    Beauchaine, Theodore P.; Klein, Daniel N.; Crowell, Sheila E.; Derbidge, Christina; Gatzke-Kopp, Lisa

    2009-01-01

    Although antisocial personality disorder (ASPD) is more common among males and borderline personality disorder (BPD) is more common among females, some (e.g., Paris, 1997) have suggested that the two disorders reflect multifinal outcomes of a single etiology. This assertion is based on several overlapping symptoms and features, including trait impulsivity, emotional lability, high rates of depression and suicide, and a high likelihood of childhood abuse and/or neglect. Furthermore, rates of ASPD are elevated in the first degree relatives of those with BPD, and concurrent comorbidity rates for the two disorders are high. In this article, we present a common model of antisocial and borderline personality development. We begin by reviewing issues and problems with diagnosing and studying personality disorders in children and adolescents. Next, we discuss dopaminergic and serotonergic mechanisms of trait impulsivity as predisposing vulnerabilities to ASPD and BPD. Finally, we extend shared risk models for ASPD and BPD by specifying genetic loci that may confer differential vulnerability to impulsive aggression and mood dysregulation among males and impulsive self-injury and mood dysregulation among females. Although the precise mechanisms of these sex-moderated genetic vulnerabilities remain poorly understood, they appear to interact with environmental risk factors including adverse rearing environments to potentiate the development of ASPD and BPD. PMID:19583882

  3. Congenital bronchial abnormalities revisited.

    PubMed

    Ghaye, B; Szapiro, D; Fanchamps, J M; Dondelinger, R F

    2001-01-01

    Bronchial anatomy is adequately demonstrated with the appropriate spiral computed tomographic technique on cross-sectional images, multiplanar reconstruction images, and three-dimensional reconstruction images. Contrary to the numerous variations of lobar or segmental bronchial subdivisions, abnormal bronchi originating from the trachea or main bronchi are rare. Major bronchial abnormalities include accessory cardiac bronchus (ACB) and "tracheal" bronchus. An ACB is a supernumerary bronchus from the inner wall of the right main bronchus or intermediate bronchus that progresses toward the pericardium. Fourteen ACBs were found in 17,500 consecutive patients (frequency, 0.08%). The term tracheal bronchus encompasses a variety of bronchial anomalies originating from the trachea or main bronchus and directed to the upper lobe. In a series of 35 tracheal bronchi, only eight originated from the trachea, three originated from the carina, and 24 originated from the bronchi. Displaced tracheal bronchi (27 of 35) are more frequent than supernumerary tracheal bronchi (eight of 35). Minor bronchial abnormalities include variants of tracheal bronchus, displaced segmental bronchi, and bronchial agenesis. The main embryogenic hypotheses for congenital bronchial abnormalities are the reduction, migration, and selection theories. Knowledge and understanding of congenital bronchial abnormalities may have important implications for diagnosis, bronchoscopy, surgery, brachytherapy, and intubation. PMID:11158647

  4. Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

    PubMed Central

    Marcinkowska-Swojak, Malgorzata; Szczerbal, Izabela; Pausch, Hubert; Nowacka-Woszuk, Joanna; Flisikowski, Krzysztof; Dzimira, Stanislaw; Nizanski, Wojciech; Payan-Carreira, Rita; Fries, Ruedi; Kozlowski, Piotr; Switonski, Marek

    2015-01-01

    Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1. PMID:26423656

  5. Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative).

    PubMed

    Marcinkowska-Swojak, Malgorzata; Szczerbal, Izabela; Pausch, Hubert; Nowacka-Woszuk, Joanna; Flisikowski, Krzysztof; Dzimira, Stanislaw; Nizanski, Wojciech; Payan-Carreira, Rita; Fries, Ruedi; Kozlowski, Piotr; Switonski, Marek

    2015-01-01

    Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1. PMID:26423656

  6. Sex moderates associations between prenatal glucocorticoid exposure and human fetal neurological development.

    PubMed

    Glynn, Laura M; Sandman, Curt A

    2012-09-01

    Maternal cortisol levels (at 15, 19, 25, 31 and 37 weeks' gestation) and fetal movement response to vibroacoustic stimulation (VAS; at 25, 31 and 37 weeks) were assessed in 190 mother-fetus pairs. Fetuses showed a response to the VAS at 25 weeks and there was evidence of increasing maturation in the response at 31 and 37 weeks. Early elevations in cortisol predicted a failure to respond to the VAS at 25 weeks and later elevations in cortisol were associated with a larger response among fetuses when assessed near term. The associations between cortisol and VAS emerged earlier and were more apparent among female fetuses than among the males. The findings provide support for the role of prenatal glucocorticoids in shaping human fetal CNS development. PMID:22925508

  7. Multimodal Sex-Related Differences in Infant and in Infant-Directed Maternal Behaviors during Months Three through Twelve of Development

    ERIC Educational Resources Information Center

    Fausto-Sterling, Anne; Crews, David; Sung, Jihyun; García-Coll, Cynthia; Seifer, Ronald

    2015-01-01

    Using the concepts of sensory and affective experience, this work relates the concepts of socialization and cognitive development to the embodiment of gender in the human infant. Evidence obtained from biweekly observations from 30 children and their mothers observed from age 3 months to age 12 months revealed measurable sex-related differences in…

  8. The Development and Feasibility of a Brief Risk Reduction Intervention for Newly HIV-Diagnosed Men Who Have Sex with Men

    ERIC Educational Resources Information Center

    Sikkema, Kathleen J.; Hansen, Nathan B.; Kochman, Arlene; Santos, Jonathan; Watt, Melissa H.; Wilson, Patrick A.; DeLorenzo, Allyson; Laudato, Jay; Mayer, Gal

    2011-01-01

    Men who have sex with men (MSM) represent more than half of all new HIV infections in the United States. Utilizing a collaborative, community-based approach, a brief risk reduction intervention was developed and pilot tested among newly HIV-diagnosed MSM receiving HIV care in a primary care setting. Sixty-five men, within 3 months of diagnosis,…

  9. The Effects of Depression and Stressful Life Events on the Development and Maintenance of Syndromal Social Anxiety: Sex and Age Differences

    ERIC Educational Resources Information Center

    Aune, Tore; Stiles, Tore C.

    2009-01-01

    This study assessed age and sex differences in the prevalence and incidence rates of syndromal social anxiety (SSA), as well as the predictive role of depressive symptoms and stressful life events on the development and persistence of SSA. A sample of 1,439 young people, between 11 and 14 years of age, was assessed twice within a 12-month…

  10. The Effects of Depression and Stressful Life Events on the Development and Maintenance of Syndromal Social Anxiety: Sex and Age Differences

    ERIC Educational Resources Information Center

    Aune, Tore; Stiles, Tore C.

    2009-01-01

    This study assessed age and sex differences in the prevalence and incidence rates of syndromal social anxiety (SSA), as well as the predictive role of depressive symptoms and stressful life events on the development and persistence of SSA. A sample of 1,439 young people, between 11 and 14 years of age, was assessed twice within a 12-month…

  11. The gene CmACS-7 provides sequence variation for the development of DNA markers associated with monoecious sex expresion in melon (Cucumis melo L.)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Most melon (Cucumis melo L.) breeding lines in South Korea display andromonoecious sex expression (i.e., possessing both bisexual and male flowers on the same plant), which, in turn, necessitates laborious hand emasculation during F1 hybrid seed production. Thus, there is a need to develop monoecio...

  12. Multimodal Sex-Related Differences in Infant and in Infant-Directed Maternal Behaviors during Months Three through Twelve of Development

    ERIC Educational Resources Information Center

    Fausto-Sterling, Anne; Crews, David; Sung, Jihyun; García-Coll, Cynthia; Seifer, Ronald

    2015-01-01

    Using the concepts of sensory and affective experience, this work relates the concepts of socialization and cognitive development to the embodiment of gender in the human infant. Evidence obtained from biweekly observations from 30 children and their mothers observed from age 3 months to age 12 months revealed measurable sex-related differences in…

  13. Sex Stereotyping.

    ERIC Educational Resources Information Center

    Western European Education, 1982

    1982-01-01

    Presents the Norwegian Ministry of Education's recommendations to the Council of Europe for reforming European education to prevent sex discrimination against women at the elementary and secondary levels. (AM)

  14. Chromosome abnormalities in Indonesian patients with short stature

    PubMed Central

    2012-01-01

    Background Short stature is associated with several disorders including wide variations of chromosomal disorders and single gene disorders. The objective of this report is to present the cytogenetic findings in Indonesian patients with short stature. Methods G-banding and interphase/metaphase FISH were performed on short stature patients with and without other clinical features who were referred by clinicians all over Indonesia to our laboratory during the year 2003–2009. Results The results of chromosomal analysis of ninety seven patients (mean age: 10.7 years old) were collected. The group of patients with other clinical features showed sex chromosome abnormalities in 45% (18/40) and autosomal abnormalities in 10% (4/40), whereas those with short stature only, 42.1% (24/57) had sex chromosome abnormalities and 1.75% (1/57) had autosomal abnormalities. The autosomal chromosomal abnormalities involved mostly subtelomeric regions. Results discrepancies between karyotype and FISH were found in 10 patients, including detection of low-level monosomy X mosaicism in 6 patients with normal karyotype, and detection of mosaic aneuploidy chromosome 18 in 1 patient with 45,XX,rob(13;14)(q10;q10). Statistical analysis showed no significant association between the groups and the type of chromosomal abnormalities. Conclusion Chromosome abnormalities account for about 50% of the short stature patients. Wide variations of both sex and autosomal chromosomes abnormalities were detected in the study. Since three out of five patients had autosomal structural abnormalities involving the subtelomeric regions, thus in the future, subtelomeric FISH or even a more sensitive method such as genomic/SNP microarray is needed to confirm deletions of subtelomeric regions of chromosome 9, 11 and 18. Low-level mosaicism in normal karyotype patients indicates interphase FISH need to be routinely carried out in short stature patients as an adjunct to karyotyping. PMID:22863325

  15. Gene Abnormality May Be Key to Down Syndrome, Scientists Say

    MedlinePLUS

    ... 157468.html Gene Abnormality May Be Key to Down Syndrome, Scientists Say Results might eventually lead to new ... abnormality that affects brain development in people with Down Syndrome, and they say this finding might lead to ...

  16. The Effect of Resistant Soybean on Male and Female Development and Adult Sex Ratios of Heterodera glycines.

    PubMed

    Colgrove, A L; Niblack, T L

    2005-06-01

    To determine whether currently used sources of resistance (soybean Plant Introductions [PI] 548402, 88788, 90763, 437654, 209332, 89772, and 548316) influence sex ratios in H. glycines, four inbred lines of the nematode characterized by zero or high numbers of females on resistant soybean were used to observe the number of adult males produced. Nematodes were allowed to infect soybean roots for 5 days in pasteurized sand. Infected plants were washed and transferred to hydroponic culture tubes. Males were collected every 2 to 3 days up to 30 days after infestation (DAI), and females were collected at 30 DAI. Resistance that suppressed adult females also altered adult male numbers. On PI 548402, 90763, and 437654, male numbers were low and close to zero, whereas on PI 88788, male numbers were higher (alpha = 0.05). In a separate experiment, the same PIs were infected by an inbred line that tested as an HG Type 0 (i.e., the numbers of females that developed on each PI were less than 10% of the number that developed on the standard susceptible soybean cultivar Lee). In this experiment, male numbers were similar to female numbers on PI 548402, 90763, 437654, and 89772, whereas male numbers on PI 88788, 209332, and 548316 were higher than those of females (alpha = 0.05). In all experiments, the total number of adults that developed to maturity relative to the number of second-stage juveniles that initially penetrated the root was less on resistant than on susceptible soybean (P development. PMID:19262856

  17. Long-term recovery from hippocampal-related behavioral and biochemical abnormalities induced by noise exposure during brain development. Evaluation of auditory pathway integrity.

    PubMed

    Uran, S L; Gómez-Casati, M E; Guelman, L R

    2014-10-01

    Sound is an important part of man's contact with the environment and has served as critical means for survival throughout his evolution. As a result of exposure to noise, physiological functions such as those involving structures of the auditory and non-auditory systems might be damaged. We have previously reported that noise-exposed developing rats elicited hippocampal-related histological, biochemical and behavioral changes. However, no data about the time lapse of these changes were reported. Moreover, measurements of auditory pathway function were not performed in exposed animals. Therefore, with the present work, we aim to test the onset and the persistence of the different extra-auditory abnormalities observed in noise-exposed rats and to evaluate auditory pathway integrity. Male Wistar rats of 15 days were exposed to moderate noise levels (95-97 dB SPL, 2 h a day) during one day (acute noise exposure, ANE) or during 15 days (sub-acute noise exposure, SANE). Hippocampal biochemical determinations as well as short (ST) and long term (LT) behavioral assessments were performed. In addition, histological and functional evaluations of the auditory pathway were carried out in exposed animals. Our results show that hippocampal-related behavioral and biochemical changes (impairments in habituation, recognition and associative memories as well as distortion of anxiety-related behavior, decreases in reactive oxygen species (ROS) levels and increases in antioxidant enzymes activities) induced by noise exposure were almost completely restored by PND 90. In addition, auditory evaluation shows that increased cochlear thresholds observed in exposed rats were re-established at PND 90, although with a remarkable supra-threshold amplitude reduction. These data suggest that noise-induced hippocampal and auditory-related alterations are mostly transient and that the effects of noise on the hippocampus might be, at least in part, mediated by the damage on the auditory pathway. However, we cannot exclude that a different mechanism might be responsible for the observed hippocampal-related changes. PMID:24911434

  18. X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.

    PubMed

    Sikora, Jakub; Leddy, Jennifer; Gulinello, Maria; Walkley, Steven U

    2016-01-01

    Christianson syndrome (CS) is an X-linked neurodevelopmental and neurological disorder characterized in males by core symptoms that include non-verbal status, intellectual disability, epilepsy, truncal ataxia, postnatal microcephaly and hyperkinesis. CS is caused by mutations in the SLC9A6 gene, which encodes a multipass transmembrane sodium (potassium)-hydrogen exchanger 6 (NHE6) protein, functional in early recycling endosomes. The extent and variability of the CS phenotype in female heterozygotes, who presumably express the wild-type and mutant SLC9A6 alleles mosaically as a result of X-chromosome inactivation (XCI), have not yet been systematically characterized. Slc9a6 knockout mice (Slc9a6 KO) were generated by insertion of the bacterial lacZ/?-galactosidase (?-Gal) reporter into exon 6 of the X-linked gene. Mutant Slc9a6 KO male mice have been shown to develop late endosomal/lysosomal dysfunction associated with glycolipid accumulation in selected neuronal populations and patterned degeneration of Purkinje cells (PCs). In heterozygous female Slc9a6 KO mice, ?-Gal serves as a transcriptional/XCI reporter and thus facilitates testing of effects of mosaic expression of the mutant allele on penetrance of the abnormal phenotype. Using ?-Gal, we demonstrated mosaic expression of the mutant Slc9a6 allele and mosaically distributed lysosomal glycolipid accumulation and PC pathology in the brains of heterozygous Slc9a6 KO female mice. At the behavioral level, we showed that heterozygous female mice suffer from visuospatial memory and motor coordination deficits similar to but less severe than those observed in X-chromosome hemizygous mutant males. Our studies in heterozygous Slc9a6 KO female mice provide important clues for understanding the likely phenotypic range of Christianson syndrome among females heterozygous for SLC9A6 mutations and might improve diagnostic practice and genetic counseling by helping to characterize this presumably underappreciated patient/carrier group. PMID:26515654

  19. Development and validation of an high-performance liquid chromatography-diode array detector method for the simultaneous determination of six phenolic compounds in abnormal savda munziq decoction

    PubMed Central

    Tian, Shuge; Liu, Wenxian; Liu, Feng; Zhang, Xuejia; Upur, Halmuart

    2015-01-01

    Aims: Given the high-effectiveness and low-toxicity of abnormal savda munziq (ASMQ), its herbal formulation has long been used in traditional Uyghur medicine to treat complex diseases, such as cancer, diabetes, and cardiovascular diseases. Settings and Design: ASMQ decoction by reversed-phase high-performance liquid chromatography coupled with a diode array detector was successfully developed for the simultaneous quality assessment of gallic acid, protocatechuic acid, caffeic acid, rutin, rosmarinic acid, and luteolin. The six phenolic compounds were separated on an Agilent TC-C18 reversed-phase analytical column (4.6 × 250 mm, 5 μm) by gradient elution using 0.3% aqueous formic acid (v/v) and 0.3% methanol formic acid (v/v) at 1.0 mL/min. Materials and Methods: The plant material was separately ground and mixed at the following ratios (10): Cordia dichotoma (10.6), Anchusa italic (10.6), Euphorbia humifusa (4.9), Adiantum capillus-veneris (4.9), Ziziphus jujube (4.9), Glycyrrhiza uralensis (7.1), Foeniculum vulgare (4.9), Lavandula angustifolia (4.9), Dracocephalum moldavica L. (4.9), and Alhagi pseudoalhagi (42.3). Statistical Analysis Used: The precisions of all six compounds were <0.60%, and the average recoveries ranged from 99.39% to 104.85%. Highly significant linear correlations were found between component concentrations and specific chromatographic peak areas (R2 > 0.999). Results: The proposed method was successfully applied to determine the levels of six active components in ASMQ. Conclusions: Given the simplicity, precision, specificity, and sensitivity of the method, it can be utilized as a quality control approach to simultaneously determining the six phenolic compounds in AMSQ. PMID:25709227

  20. Epiphyseal abnormalities, trabecular bone loss and articular chondrocyte hypertrophy develop in the long bones of postnatal Ext1-deficient mice1

    PubMed Central

    Sgariglia, Federica; Candela, Maria Elena; Huegel, Julianne; Jacenko, Olena; Koyama, Eiki; Yamaguchi, Yu; Pacifici, Maurizio; Enomoto-Iwamoto, Motomi

    2014-01-01

    Long bones are integral components of the limb skeleton. Recent studies have indicated that embryonic long bone development is altered by mutations in Ext genes and consequent heparan sulfate (HS) deficiency, possibly due to changes in activity and distribution of HS-binding/growth plate-associated signaling proteins. Here we asked whether Ext function is continuously required after birth to sustain growth plate function and long bone growth and organization. Compound transgenic Ext1f/f;Col2CreERT mice were injected with tamoxifen at postnatal day 5 (P5) to ablate Ext1 in cartilage and monitored over time. The Ext1-deficient mice exhibited growth retardation already by 2 weeks post-injection, as did their long bones. Mutant growth plates displayed a severe disorganization of chondrocyte columnar organization, a shortened hypertrophic zone with low expression of collagen X and MMP-13, and reduced primary spongiosa accompanied, however, by increased numbers of TRAP-positive osteoclasts at the chondro-osseous border. The mutant epiphyses were abnormal as well. Formation of a secondary ossification center was significantly delayed but interestingly, hypertrophic-like chondrocytes emerged within articular cartilage, similar to those often seen in osteoarthritic joints. Indeed, the cells displayed a large size and round shape, expressed collagen X and MMP-13 and were surrounded by an abundant Perlecan-rich pericellular matrix not seen in control articular chondrocytes. In addition, ectopic cartilaginous by EXT mutations and HS deficiency. In sum, the data do show that Ext1 is continuously required for postnatal growth and organization of long bones as well as their adjacent joints. Ext1 deficiency elicits defects that can occur in human skeletal conditions including trabecular bone loss, osteoarthritis and HME. PMID:23958822

  1. Sex education in Portugal.

    PubMed

    Frade, A; Vilar, D

    1991-05-01

    The article on sex education in Portugal covers background, the educational system, the clashes of the 1960's over sex education, the Committee for the Study of Sexuality and Education (CSSE), the policies, politics and social movements during the period 1974 - 1984, the discussions in Parliament, the 1988 Reform of the Educational System, the Family Planning Association (FPA) and sex education, and the future role of the FPA. It was not until the institution of the multiparity parliamentary system in 1974 that discussing social and political changes was possible, culminating in 1984 with new legislation on abortion, family planning, and sex education. School reform came in 1987/8 with the Ministry of Education primarily responsible for curricula. The 1960's brought with it the influence of the Catholic Church. Change came in the form of progressivism among Catholics who replaced dogma with dialogue and listening. Sex education was considered as preparation for marriage, but masturbation, contraception, and prostitution were also discussed. In addition, the founder of FPA chaired the CSSE in 1971 and opened up debate on sex issues and drafted a bill to establish co-education in Portuguese schools. The revolution of 1974 brought an end to censorship and brought forth a policy of developing family planning. Changed in the Family Code gave women greater equality. UNFPA supported teacher training in non-sexist education. With human reproduction included in the natural sciences, there was still no school sex education policy and contraception was only sometimes represented in the biology curriculum. The focus of FPA was on contraception and abortion. Finally in the 1980's, the first sex education programs were developed for out-of-school youth. Even though in the 1970's there were leftists groups promoting sex education, it took leftist parliamentary power to get legislation on sex education in the schools adopted. The Ministry of Education however was pressured by the Catholic Church. As in 1973, committees were formed but no action was taken. Sex education activity increased nonetheless - the first FPA document on school education prepared. In 1986 Personal and Social Education was approved by parliament providing an alternative (due to the Catholic Church) to Religious Education, but even with FPA support documents, the implementation did not begin until the end of 1990. In brief the FPA's emphasis was on the body, sexuality, sex and interpersonal relationships, and sexual reproduction. The role of FPA continues at the grass roots level in stimulating discussion; cooperating with schools, students and parents; and acting as a resource center. PMID:12343180

  2. Analysis of the multiple roles of gld-1 in germline development: Interactions with the sex determination cascade and the glp-1 signaling pathway

    SciTech Connect

    Francis, R.; Schedl, T.; Maine, E.

    1995-02-01

    The Caenorhabditis elegans gene gld-1 is essential for oocyte development; in gld-1 (null) hermaphrodites, a tumor forms where oogenesis would normally occur. We use genetic epistasis analysis to demonstrate that tumor formation is dependent on the sexual fate of the germline. When the germline sex determination pathway is set in the female mode (terminal fem/fog genes inactive), gld-1 (null) germ cells exit meiotic prophase and proliferate to form a tumor, but when the pathway is et in the male mode, they develop into sperm. We conclude that the gld-1 (null) phenotype is cell-type specific and that gld-1(+) acts at the end of the cascade to direct oogenesis. We also use cell ablation and epistasis analysis to examine the dependence of tumor formation on the glp-1 signaling pathway. Although glp-1 activity promotes tumor growth, it is not essential for tumor formation by gld-1 (null) germ cells. These data also reveal that gld-1(+) plays a nonessential (and sex nonspecific) role in regulating germ cell proliferation before their entry into meiosis. Thus gld-1(+) may negatively regulate proliferation at two distinct points in germ cell development: before entry into meiotic prophase in both sexes (nonessential premeiotic gld-1 function) and during meiotic prophase when the sex determination pathway is set in the female mode (essential meiotic gld-1 function). 46 refs., 9 figs., 4 tabs.

  3. Attitudes about Sex Selection and Sex Preference in Iranian Couples Referred for Sex Selection Technology

    PubMed Central

    Ahmadi, Seyedeh Fatemeh; Shirzad, Mahdi; Kamali, Koorosh; Ranjbar, Fahimeh; Behjati-Ardakani, Zohreh; Akhondi, Mohammad Mehdi

    2015-01-01

    Background Gender preference is prevalent in some communities and using medical techniques to choose the baby's sex may cause the gender discrimination and gender imbalance in communities. Therefore, evaluating the gender preferences and attitudes towards using sex selection technologies seems to be necessary. Methods This cross-sectional study was conducted in Avicenna Fertility Center. Participants were 100 women with one child who were referred for sex selection. Data were collected through self-developed questionnaires. The questions were designed by the researchers at the experts’ panel. To determine the validity of the questionnaire, the viewpoints of professors specialized in these issues were obtained. The statistical analysis of the data was performed using SPSS software (Version 11.5), and p < 0.05 was considered significant. Results Tendency toward the male was more than female sex (55.5% male, 15.5% female and 28.5% no tendency). Majority of participants agreed with sex selection with medical reason and sex selection in order to balance the family. Women's level of education had positive effect on agreements to fetal sex selection with medical and non-medical reasons (p < 0.001). Conclusion Although gender preferences were toward the male sex but this preference was not very strong. Most participants agreed with non-medical sex selection for balancing the sex composition of their children. It doesn't seem that non-medical sex selection for family balancing causes severe sex imbalance in Iran. PMID:25717434

  4. Developing a Conceptual Framework of Seroadaptive Behaviors in HIV-Diagnosed Men Who Have Sex With Men

    PubMed Central

    Rönn, Minttu; White, Peter J.; Hughes, Gwenda; Ward, Helen

    2014-01-01

    Background. Seroadaptive behaviors are strategies employed by men who have sex with men (MSM) to reduce the transmission risk for human immunodeficiency virus (HIV). It has been suggested that they contribute to the increasing diagnoses of sexually transmitted infections in HIV-diagnosed MSM. To understand the context in which the reemerging sexually transmitted infections appear, we developed a social epidemiological model incorporating the multiple factors influencing seroadaptive behaviors. Methods. A literature review of seroadaptive behaviors in HIV-diagnosed MSM was conducted. The literature was synthesized using a social epidemiological perspective. Results. Seroadaptive behaviors are adopted by MSM in high-income countries and are a way for HIV-diagnosed men to manage and enjoy their sexual lives. Influences are apparent at structural, community, interpersonal, and intrapersonal levels. There is little evidence of whether and when the behavior forms part of a premeditated strategy; it seems dependent on the social context and on time since HIV diagnosis. Social rules of HIV disclosure and perception of risk depend on the setting where partners are encountered. Conclusions. Seroadaptive behaviors are strongly context dependent and can reduce or increase transmission risk for different infectious diseases. Further data collection and mathematical modeling can help us explore the specific conditions in more detail. PMID:25381379

  5. Role of sex steroids and their receptors in human preterm infants: Impacts on future treatment strategies for cerebral development.

    PubMed

    Hübner, Stephanie; Reich, Bettina; Heckmann, Matthias

    2015-12-15

    Preterm birth is a major risk factor for cerebral complications, such as hemorrhage or periventricular leukomalacia, which lead to lifelong neurodevelopmental deficits. Hypoxia/ischemia, inflammation, hyperoxia, and prematurity itself contribute to the extent of impaired neurodevelopment. Preterm birth leads to disruption of the placental supply of estrogens and progesterone. Postnatally, the plasma levels of estrogens and progesterone drop 100-fold. Preterm infants are deprived of the placental supply of these hormones for up to sixteen weeks. Thus, supplementation of estradiol and progesterone to mimic intrauterine conditions may potentially improve a premature infant?s extrauterine development and help protect the brain against neurological complications. However, preliminary clinical studies did not find improved outcomes except for a trend towards less cerebral palsy. The decrease in estrogen and progesterone concentrations is accompanied by persistent, high postnatal production of fetal zone steroids, mainly dehydroepiandrosterone, which serve as precursors for maternal estrogen synthesis during pregnancy. This commentary will combine knowledge from endocrinology, pharmacology, and neonatology to explain the discrepancies between promising animal models and clinical findings. Most important targets will be classical and non-classical estrogen receptors, which interact differently-not only with estrogens but also with fetal zone steroids. The fetal zone is unique among humans and higher primates. Therefore, a clearly defined model is required to study the role of sex steroids and their receptors before further clinical studies begin. PMID:26300058

  6. Evaluating and Refining the Construct of Sexual Quality With Item Response Theory: Development of the Quality of Sex Inventory.

    PubMed

    Shaw, Amanda M; Rogge, Ronald D

    2016-02-01

    This study took a critical look at the construct of sexual quality. The 65 items of four well-validated self-report measures of sexual satisfaction (the Index of Sexual Satisfaction [ISS], Hudson, Harrison, & Crosscup, 1981; the Global Measure of Sexual Satisfaction [GMSEX], Lawrance & Byers, 1995; the Pinney Sexual Satisfaction Inventory [PSSI], Pinney, Gerrard, & Denney, 1987; the Young Sexual Satisfaction Scale [YSSS], Young, Denny, Luquis, & Young, 1998) and an additional 74 potential sexual quality items were given to 3060 online participants. Using Item Response Theory (IRT), we demonstrated that the ISS, YSSS, and PSSI scales provided suboptimal levels of precision in assessing sexual quality, particularly given the length of those scales. Exploratory factor analyses, IRT, differential item functioning analyses, and longitudinal responsiveness analyses were used to develop and evaluate the Quality of Sex Inventory. Results suggested that, in comparison to existing scales, the QSI (1) offers investigators and clinicians more theoretically focused scales, (2) distinguishes sexual satisfaction from sexual dissatisfaction, and (3) offers greater precision and power for detecting differences with (4) comparably high levels of responsiveness for detecting change over time despite being notably shorter than most of the existing scales. The QSI-satisfaction subscales demonstrated strong convergent validity with other measures of sexual satisfaction and excellent construct validity with anchor scales from the nomological net surrounding that construct, suggesting that they continue to assess the same theoretical construct as prior scales. Implications for research are discussed. PMID:26728053

  7. Fatigue-enhanced hyperalgesia in response to muscle insult: induction and development occur in a sex-dependent manner

    PubMed Central

    Gregory, N. S.; Gibson-Corley, K.; Frey-Law, L.; Sluka, K. A.

    2014-01-01

    Chronic muscle pain affects 20–50% of the population, is more common in women than men, and is associated with increased pain during physical activity and exercise. Muscle fatigue is common in people with chronic muscle pain, occurs in response to exercise and is associated with release of fatigue metabolites. Fatigue metabolites can sensitize muscle nociceptors which could enhance pain with exercise. Using a mouse model we tested whether fatigue of a single muscle, induced by electrical stimulation, resulted in enhanced muscle hyperalgesia and if the enhanced hyperalgesia was more pronounced in female mice. Muscle fatigue was induced in combination with a sub-threshold muscle insult (2 injections of pH 5.0 saline) in male and female mice. We show that male and female mice, fatigued immediately prior to muscle insult in the same muscle, develop similar muscle hyperalgesia 24h later. However, female mice also develop hyperalgesia when muscle fatigue and muscle insult occur in different muscles, and when muscle insult is administered 24 hours after fatigue in the same muscle. Further, hyperalgesia lasts significantly longer in females. Finally, muscle insult with or without muscle fatigue results in minimal inflammatory changes in the muscle itself, and sex differences are not related to estradiol (ovariectomy) or changes in brainstem activity (pNR1). Thus, the current model mimics muscle fatigue-induced enhancement of pain observed in chronic muscle pain conditions in the human population. Interactions between fatigue and muscle insult may underlie the development of chronic widespread pain with an associated female predominance observed in human subjects. PMID:23906552

  8. Transcriptomic Analysis for Different Sex Types of Ricinus communis L. during Development from Apical Buds to Inflorescences by Digital Gene Expression Profiling

    PubMed Central

    Tan, Meilian; Xue, Jianfeng; Wang, Lei; Huang, Jiaxiang; Fu, Chunling; Yan, Xingchu

    2016-01-01

    The castor plant (Ricinus communis L.) is a versatile industrial oilseed crop with a diversity of sex patterns, its hybrid breeding for improving yield and high purity is still hampered by genetic instability of female and poor knowledge of sex expression mechanisms. To obtain some hints involved in sex expression and provide the basis for further insight into the molecular mechanisms of castor plant sex determination, we performed DGE analysis to investigate differences between the transcriptomes of apices and racemes derived from female (JXBM0705P) and monoecious (JXBM0705M) lines. A total of 18 DGE libraries were constructed from the apices and racemes of a wild monoecious line and its isogenic female derivative at three stages of apex development, in triplicate. Approximately 5.7 million clean tags per library were generated and mapped to the reference castor genome. Transcriptomic analysis showed that identical dynamic changes of gene expression were indicated in monoecious and female apical bud during its development from vegetation to reproduction, with more genes expressed at the raceme formation and infant raceme stages compare to the early leaf bud stage. More than 3000 of differentially expressed genes (DEGs) were detected in Ricinus apices at three developmental stages between two different sex types. A number of DEGs involved in hormone response and biosynthesis, such as auxin response and transport, transcription factors, signal transduction, histone demethylation/methylation, programmed cell death, and pollination, putatively associated with sex expression and reproduction were discovered, and the selected DEGs showed consistent expression between qRT-PCR validation and the DGE patterns. Most of those DEGs were suppressed at the early leaf stage in buds of the mutant, but then activated at the following transition stage (5-7-leaf stage) of buds in the mutant, and ultimately, the number of up-regulated DEGs was equal to that of down-regulation in the small raceme of the mutant. In this study, a large number of DEGs and some suggestions involved in sex expression and reproduction were discovered using DGE analysis, which provides large information and valuable hints for next insights into the molecular mechanism of sex determination. It is useful for other further studies in Ricinus. PMID:26904031

  9. Transcriptomic Analysis for Different Sex Types of Ricinus communis L. during Development from Apical Buds to Inflorescences by Digital Gene Expression Profiling.

    PubMed

    Tan, Meilian; Xue, Jianfeng; Wang, Lei; Huang, Jiaxiang; Fu, Chunling; Yan, Xingchu

    2015-01-01

    The castor plant (Ricinus communis L.) is a versatile industrial oilseed crop with a diversity of sex patterns, its hybrid breeding for improving yield and high purity is still hampered by genetic instability of female and poor knowledge of sex expression mechanisms. To obtain some hints involved in sex expression and provide the basis for further insight into the molecular mechanisms of castor plant sex determination, we performed DGE analysis to investigate differences between the transcriptomes of apices and racemes derived from female (JXBM0705P) and monoecious (JXBM0705M) lines. A total of 18 DGE libraries were constructed from the apices and racemes of a wild monoecious line and its isogenic female derivative at three stages of apex development, in triplicate. Approximately 5.7 million clean tags per library were generated and mapped to the reference castor genome. Transcriptomic analysis showed that identical dynamic changes of gene expression were indicated in monoecious and female apical bud during its development from vegetation to reproduction, with more genes expressed at the raceme formation and infant raceme stages compare to the early leaf bud stage. More than 3000 of differentially expressed genes (DEGs) were detected in Ricinus apices at three developmental stages between two different sex types. A number of DEGs involved in hormone response and biosynthesis, such as auxin response and transport, transcription factors, signal transduction, histone demethylation/methylation, programmed cell death, and pollination, putatively associated with sex expression and reproduction were discovered, and the selected DEGs showed consistent expression between qRT-PCR validation and the DGE patterns. Most of those DEGs were suppressed at the early leaf stage in buds of the mutant, but then activated at the following transition stage (5-7-leaf stage) of buds in the mutant, and ultimately, the number of up-regulated DEGs was equal to that of down-regulation in the small raceme of the mutant. In this study, a large number of DEGs and some suggestions involved in sex expression and reproduction were discovered using DGE analysis, which provides large information and valuable hints for next insights into the molecular mechanism of sex determination. It is useful for other further studies in Ricinus. PMID:26904031

  10. Congenital midface abnormalities.

    PubMed

    Baxter, Daniel J G; Shroff, Manohar

    2011-08-01

    There are a wide variety of congenital midface abnormalities that originate during transformation of the first pair of pharyngeal arches into adult structures. Computed tomography and magnetic resonance imaging are important components in the comprehensive evaluation of these lesions. A detailed understanding of midface embryogenesis and developmental anatomy is important in directing appropriate patient management. PMID:21807312

  11. Are There Gender-Specific Pathways from Early Adolescence Psychological Distress Symptoms toward the Development of Substance Use and Abnormal Eating Behavior?

    ERIC Educational Resources Information Center

    Beato-Fernandez, Luis; Rodriguez-Cano, Teresa; Pelayo-Delgado, Esther; Calaf, Myralys

    2007-01-01

    The aim of the present longitudinal community study was to test whether psychological distress at 13 years of age predicted reported substance use problems in boys and abnormal eating behavior in girls 2 years later. The sample consisted of 500 male and 576 female students. The use of substances was evaluated using a semi-structured interview,…

  12. Are There Gender-Specific Pathways from Early Adolescence Psychological Distress Symptoms toward the Development of Substance Use and Abnormal Eating Behavior?

    ERIC Educational Resources Information Center

    Beato-Fernandez, Luis; Rodriguez-Cano, Teresa; Pelayo-Delgado, Esther; Calaf, Myralys

    2007-01-01

    The aim of the present longitudinal community study was to test whether psychological distress at 13 years of age predicted reported substance use problems in boys and abnormal eating behavior in girls 2 years later. The sample consisted of 500 male and 576 female students. The use of substances was evaluated using a semi-structured interview,…

  13. Relational development in children with cleft lip and palate: influence of the waiting period prior to the first surgical intervention and parental psychological perceptions of the abnormality

    PubMed Central

    2012-01-01

    Background The birth of a child with a cleft lip, whether or not in association with a cleft palate, is a traumatic event for parents. This prospective, multidisciplinary and multi-centre study aims to explore the perceptions and feelings of parents in the year following the birth of their child, and to analyse parent–child relationships. Four inclusion centres have been selected, differing as to the date of the first surgical intervention, between birth and six months. The aim is to compare results, also distinguishing the subgroups of parents who were given the diagnosis in utero and those who were not. Methods/Design The main hypothesis is that the longer the time-lapse before the first surgical intervention, the more likely are the psychological perceptions of the parents to affect the harmonious development of their child. Parents and children are seen twice, when the child is 4 months (T0) and when the child is one year old (T1). At these two times, the psychological state of the child and his/her relational abilities are assessed by a specially trained professional, and self-administered questionnaires measuring factors liable to affect child–parent relationships are issued to the parents. The Alarme Détresse BéBé score for the child and the Parenting Stress Index score for the parents, measured when the child reaches one year, will be used as the main criteria to compare children with early surgery to children with late surgery, and those where the diagnosis was obtained prior to birth with those receiving it at birth. Discussion The mental and psychological dimensions relating to the abnormality and its correction will be analysed for the parents (the importance of prenatal diagnosis, relational development with the child, self-image, quality of life) and also, for the first time, for the child (distress, withdrawal). In an ethical perspective, the different time lapses until surgery in the different protocols and their effects will be analysed, so as to serve as a reference for improving the quality of information during the waiting period, and the quality of support provided for parents and children by the healthcare team before the first surgical intervention. Trial Registration ClinicalTrials.gov Identifier: NCT00993993. PMID:22682069

  14. Sex differences in effects on sexual development in rat offspring after pre- and postnatal exposure to triphenyltin chloride.

    PubMed

    Grote, Konstanze; Hobler, Carolin; Andrade, Anderson J M; Grande, Simone Wichert; Gericke, Christine; Talsness, Chris E; Appel, Klaus E; Chahoud, Ibrahim

    2009-06-16

    Consumers are exposed to organotin compounds (OTCs) via contaminated fish and seafood due to the accumulation of these compounds in marine organisms. Certain OTCs are immunotoxic and may also have endocrine disrupting properties resulting in adverse effects on the reproductive tract in mollusks and mammals. Since effects of in utero exposure to endocrine disrupting chemicals on the reproductive system are dependent on the critical window of exposure during its development, we conducted a comprehensive study with the aim to identify the most sensitive window of exposure to TPTCl and to investigate the effects of pre- and postnatal treatment on sexual development in rats. Male and female offspring rats were exposed to 2 or 6 mg TPTCl/kg b.w. and day either in utero and during lactation (gestation day 6 until weaning on PND 21) or from gestation day 6 until termination. As previously reported, offspring in the 6 mg TPTCl dose group exhibited high perinatal mortality and therefore no further evaluation was carried out at this dose level (Grote, K., Hobler, C, Andrade, A.J.M., Wichert Grande, S., Gericke, C., Talsness, C.E., Appel, K.E., Chahoud, I., 2007. Effects of in utero and lactational exposure to triphenyltin chloride on pregnancy outcome and postnatal development in rat offspring. Toxicology 238, 177-185). In the present paper, results on postnatal development obtained from surviving offspring of dams exposed to 2mg TPTCl/kg b.w. are reported. Male offspring were sacrificed on PND 64 or 65 and female offspring at first estrus after PND 58. A clear sex difference in response to treatment was observed. Male postnatal development was severely affected with decreases in body weight gain, reproductive organ weights and testosterone concentration as well as a significant delay in the age at preputial separation. In contrast, females exhibited a precocious completion of vaginal opening while all other endpoints were unaffected. Most of these effects were already present in animals that were only exposed until weaning indicating that these effects may be irreversible and continued treatment until termination had contributed less than expected to the severity of the observed effects. The results of the present study suggest that the sensitive window for the evaluated endpoints seems to be the period of prenatal development and that male offspring rats were more susceptible to treatment. PMID:19464569

  15. An implicit test of the associations between children and sex in pedophiles.

    PubMed

    Gray, Nicola S; Brown, Anthony S; MacCulloch, Malcolm J; Smith, Jennifer; Snowden, Robert J

    2005-05-01

    Pedophiles are motivated to disguise their thoughts and feelings about their sexual beliefs and attraction toward children. New developments using implicit measures of associations have been successful in accessing socially stigmatic beliefs, even in cases in which the participant is resistant to this disclosure. Using an implicit measure, the authors show that pedophiles have an association between children and sex, whereas nonpedophilic offenders have an association between adults and sex. The task can therefore identify a core cognitive abnormality that may underpin some pedophilic deviant sexual behavior. PMID:15869360

  16. Molecular characterization of the gene feminizer in the stingless bee Melipona interrupta (Hymenoptera: Apidae) reveals association to sex and caste development.

    PubMed

    Brito, Diana V; Silva, Carlos Gustavo N; Hasselmann, Martin; Viana, Luciana S; Astolfi-Filho, Spartaco; Carvalho-Zilse, Gislene A

    2015-11-01

    In highly eusocial insects, development of reproductive traits are regulated not only by sex determination pathway, but it also depends on caste fate. The molecular basis of both mechanisms in stingless bees and possible interaction with each other is still obscure. Here, we investigate sex determination in Melipona interrupta, focusing on characterization and expression analysis of the feminizer gene (Mi-fem), and its association to a major component of caste determination, the juvenile hormone (JH). We present evidence that Mi-fem mRNA is sex-specifically spliced in which only the female splice variant encodes the full length protein, following the same principle known for other bee species. We quantified Mi-fem expression among developmental stages, sexes and castes. Mi-fem expression varies considerably throughout development, with higher expression levels in embryos. Also, fem levels in pupae and newly emerged adults were significantly higher in queens than workers and males. Finally, we ectopically applied JH in cocoon spinning larvae, which correspond to the time window where queen/worker phenotypes diverge. We observed a significantly increase in Mi-fem expression compared to control groups. Since up to 100% of females turn into queens when treated with JH (while control groups are composed mainly of workers), we propose that fem might act to regulate queens' development. Our findings provide support for the conserved regulatory function of fem in Melipona bees and demonstrate a significant correlation between key elements of sex and caste determination pathways, opening the avenue to further investigate the molecular basis of these complex traits. PMID:26393998

  17. Development, Sex Steroid Regulation, and Phenotypic Characterization of RFamide-Related Peptide (Rfrp) Gene Expression and RFamide Receptors in the Mouse Hypothalamus

    PubMed Central

    Poling, Matthew C.; Kim, Joshua; Dhamija, Sangeeta

    2012-01-01

    Arginine-phenylalanine-amide (RFamide)-related peptide 3 (RFRP-3, encoded by the Rfrp gene) is the mammalian ortholog of gonadotropin-inhibiting hormone and can inhibit GnRH neuronal activity and LH release. However, the development and regulation of the RFRP-3 system in both sexes is poorly understood. Using in situ hybridization, we examined changes in Rfrp-expressing neurons in mice of both sexes during development and under different adulthood hormonal milieus. We found no sex differences in Rfrp expression or cell number in adult mice. Interestingly, we identified two interspersed subpopulations of Rfrp cells (high Rfrp-expressing, HE; low Rfrp-expressing, LE), which have unique developmental and steroidal regulation characteristics. The number of LE cells robustly decreases during postnatal development, whereas HE cell number increases significantly before puberty. Using Bax knockout mice, we determined that the dramatic developmental decrease in LE Rfrp cells is not due primarily to BAX-dependent apoptosis. In adults, we found that estradiol and testosterone moderately repress Rfrp expression in both HE and LE cells, whereas the nonaromatizable androgen dihydrotestosterone has no effect. Using double-label in situ hybridization, we determined that approximately 25% of Rfrp neurons coexpress estrogen receptor-? in each sex, whereas Rfrp cells do not readily express androgen receptor in either sex, regardless of hormonal milieu. Lastly, when we looked at RFRP-3 receptors, we detected some coexpression of Gpr147 but no coexpression of Gpr74 in GnRH neurons of both intact and gonadectomized males and females. Thus, RFRP-3 may exert its effects on reproduction either directly, via Gpr147 in a subset of GnRH neurons, and/or indirectly, via upstream regulators of GnRH. PMID:22355072

  18. MMPI Profiles of Males with Abnormal Sex Chromosome Complements

    ERIC Educational Resources Information Center

    Rosen, M.; And Others

    1971-01-01

    Nine males with Klinefelter's syndrome (XXY) and seven XYY males, located primarily in prisons and psychiatric hospitals, were administered the Minnesota Multiphasic Personality Inventory. (Author/KW)

  19. The Image of Women in Abnormal Psychology: Professionalism versus Psychopathology.

    ERIC Educational Resources Information Center

    Harris, Ben; Lightner, Jean

    1980-01-01

    A survey of sex stereotyping in photographs was made of major current-edition textbooks of abnormal psychology published in the United States. In photographs of contributors to the field women were significantly underrepresented, amounting to less that 5 percent of the contributors pictured. (Author)

  20. Personality and Examination Score Correlates of Abnormal Psychology Course Ratings.

    ERIC Educational Resources Information Center

    Pauker, Jerome D.

    The relationship between the ratings students assigned to an evening undergraduate abnormal psychology class and their scores on objective personality tests and course examinations was investigated. Students (N=70) completed the MMPI and made global ratings of the course; these scores were correlated separately by sex with the T scores of 13 MMPI…

  1. The effects of 2,4-dinitrophenol and d-glucose concentration on the development, sex ratio, and interferon-tau (IFNT) production of bovine blastocysts.

    PubMed

    Green, Mark P; Harvey, Alexandra J; Spate, Lee D; Kimura, Koji; Thompson, Jeremy G; Roberts, R Michael

    2016-01-01

    The preimplantation bovine embryo displays sexual dimorphism in glucose sensitivity and interferon-tau (IFNT) secretion that are negated by inhibition of the pentose phosphate pathway, suggesting that the association between glucose metabolism and IFNT likely underpins the selective loss of female embryos. The aim of this study was to determine if altered glucose metabolism, through glucose supplementation and/or uncoupling oxidative phosphorylation with 2,4-dinitrophenol (DNP), affected embryo development. Bovine blastocyst development, sex, and IFNT production were examined in embryos cultured in the presence or absence of glucose (0, 1.5, 4?mM) with or without exposure to DNP (0, 10, 100??M) between Days 5 and 8 post-fertilization. The absence or presence of high (4?mM) glucose reduced blastocyst development and favored the development of male embryos (P?development. Notably, in the presence or even absence of glucose, supplementation with 10??M DNP further skewed the sex ratio toward males (P?sex. These data suggest that the pentose phosphate pathway can modulate embryonic sex ratio and development. Therefore, bovine embryo culture should be undertaken in a low glucose (<2.5?mM) medium to minimize potential embryonic stress, as higher concentrations have sexually dimorphic effects on development and an embryo's ability to signal to the maternal reproductive tract. Mol. Reprod. Dev. 83: 50-60, 2016. © 2015 Wiley Periodicals, Inc. PMID:26465354

  2. The Sex Chromosomes in Evolution and in Medicine

    PubMed Central

    Barr, Murray L.

    1966-01-01

    The recent emergence of human cytogenetics has a firm foundation in studies on other forms of life. Historical highlights are Mendel's studies on the garden pea (published in 1865 but lost in an obscure journal until 1900); formulation of cytogenic postulates by Sutton and Boveri (1902-1903); Bridges' discovery of chromosome abnormalities in Drosophila (1916), followed by numerous similar studies in plants; and demonstration of the chromosomal basis of the syndromes of Down, Klinefelter and Turner in man (1959). The sex chromosomes (XX and XY) evolved from a pair of undifferentiated autosomes of a premammalian ancestor, the X chromosome changing less than the Y as they evolved. Eleven numerical abnormalities of the sex chromosomes are known in man, and knowledge of their effects on development is accumulating. The abnormal complexes range in size from the XO error of Turner's syndrome to the XXXXY error of a variant of Klinefelter's syndrome. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8 PMID:4224254

  3. X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities

    PubMed Central

    Sikora, Jakub; Leddy, Jennifer; Gulinello, Maria; Walkley, Steven U.

    2016-01-01

    ABSTRACT Christianson syndrome (CS) is an X-linked neurodevelopmental and neurological disorder characterized in males by core symptoms that include non-verbal status, intellectual disability, epilepsy, truncal ataxia, postnatal microcephaly and hyperkinesis. CS is caused by mutations in the SLC9A6 gene, which encodes a multipass transmembrane sodium (potassium)-hydrogen exchanger 6 (NHE6) protein, functional in early recycling endosomes. The extent and variability of the CS phenotype in female heterozygotes, who presumably express the wild-type and mutant SLC9A6 alleles mosaically as a result of X-chromosome inactivation (XCI), have not yet been systematically characterized. Slc9a6 knockout mice (Slc9a6 KO) were generated by insertion of the bacterial lacZ/β-galactosidase (β-Gal) reporter into exon 6 of the X-linked gene. Mutant Slc9a6 KO male mice have been shown to develop late endosomal/lysosomal dysfunction associated with glycolipid accumulation in selected neuronal populations and patterned degeneration of Purkinje cells (PCs). In heterozygous female Slc9a6 KO mice, β-Gal serves as a transcriptional/XCI reporter and thus facilitates testing of effects of mosaic expression of the mutant allele on penetrance of the abnormal phenotype. Using β-Gal, we demonstrated mosaic expression of the mutant Slc9a6 allele and mosaically distributed lysosomal glycolipid accumulation and PC pathology in the brains of heterozygous Slc9a6 KO female mice. At the behavioral level, we showed that heterozygous female mice suffer from visuospatial memory and motor coordination deficits similar to but less severe than those observed in X-chromosome hemizygous mutant males. Our studies in heterozygous Slc9a6 KO female mice provide important clues for understanding the likely phenotypic range of Christianson syndrome among females heterozygous for SLC9A6 mutations and might improve diagnostic practice and genetic counseling by helping to characterize this presumably underappreciated patient/carrier group. PMID:26515654

  4. Abnormal Behavior in Relation to Cage Size in Rhesus Monkeys

    ERIC Educational Resources Information Center

    Paulk, H. H.; And Others

    1977-01-01

    Examines the effects of cage size on stereotyped and normal locomotion and on other abnormal behaviors in singly caged animals, whether observed abnormal behaviors tend to co-occur, and if the development of an abnormal behavior repertoire leads to reduction in the number of normal behavior categories. (Author/RK)

  5. Caffeine exposure during rat brain development causes memory impairment in a sex selective manner that is offset by caffeine consumption throughout life.

    PubMed

    Ardais, Ana Paula; Rocha, Andréia S; Borges, Maurício Felisberto; Fioreze, Gabriela T; Sallaberry, Cássia; Mioranzza, Sabrina; Nunes, Fernanda; Pagnussat, Natália; Botton, Paulo Henrique S; Cunha, Rodrigo A; Porciúncula, Lisiane de Oliveira

    2016-04-15

    Caffeine is the psychostimulant most consumed worldwide. In moderate doses, it affords a beneficial effect in adults and upon aging, but has a deleterious effect during brain development. We now tested if caffeine consumption by rats (0.1, 0.3, 1.0g/L in the drinking water, only during active cycle and weekdays) during adulthood could revert the potentially negative effects of caffeine during early life. Thus, we compared caffeine intake starting 15 days before mating and lasting either up to weaning (development) or up to adulthood, on behavior and synaptic proteins in male and female rats. Recognition memory was impaired only in female rats receiving caffeine (0.3 and 1.0g/L) during development, coincident with increased proBDNF and unchanged BDNF levels in the hippocampus. Caffeine in both treatment regimens caused hyperlocomotion only in male rats, whereas anxiety-related behavior was attenuated in both sexes by caffeine (1.0g/L) throughout life. Both caffeine treatment regimens decreased GFAP (as an astrocyte marker) and SNAP-25 (as a nerve terminals marker) in the hippocampus from male rats. TrkB receptor was decreased in the hippocampus from both sexes and treatment regimens. These findings revealed that caffeine intake during a specific time window of brain development promotes sex-dependent behavioral outcomes related to modification in BDNF signaling. Furthermore, caffeine throughout life can overcome the deleterious effects of caffeine on recognition memory during brain development in female rats. PMID:26774980

  6. Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality

    PubMed Central

    Lux, Anke; Kropf, Siegfried; Kleinemeier, Eva; Jürgensen, Martina; Thyen, Ute

    2009-01-01

    Background The German Network of Disorders of Sex Development (DSD)/Intersexuality carried out a large scale clinical evaluation study on quality of life, gender identity, treatment satisfaction, coping, and problems associated with diagnoses and therapies in individuals with disorders of sex development (DSD). DSD are a heterogeneous group of various genetic disorders of sex determination or sex differentiation, all of which are rare conditions. In about half of all cases the molecular genetic diagnosis is unknown and diagnosis rests on clinical features. Methods and design The multi-centre clinical evaluation study includes short-term follow-up in some and cross-sectional assessments in all age and diagnostic groups fitting the criteria of DSD. Recruitment was from January 2005 until December 2007 in whole Germany and, additionally, in 2007 in Austria and German-speaking Switzerland. The study consists of a psychosocial inquiry for children, adolescents and their parents, and adults with standardized instruments and the collection of DSD-specific medical data by the attending physician. The main goal was the description of clinical outcomes and the health-care situation of individuals with DSD using a broad generic definition of DSD including all conditions with a mismatch of chromosomal, gonadal and phenotypical sex. 439 children and adolescents, their parents and adults with DSD participated. Discussion The clinical evaluation study represents the most comprehensive study in this clinical field. The paper discusses the study protocol, the data management and data quality as well as the classification used, and it describes the study population. Given the lack of large datasets in rare conditions such as DSD and often biased results from small scale clinical case series, the study aims to generate concrete hypotheses for evidence-based guidelines, which should be tested in further studies. PMID:19383134

  7. Young women with a disorder of sex development: learning to share information with health professionals, friends and intimate partners about bodily differences and infertility

    PubMed Central

    Sanders, Caroline; Carter, Bernie; Lwin, Rebekah

    2015-01-01

    Aim To understand the experiences of young women with a disorder of sex development when sharing information about their body with healthcare professionals, friends and intimate partners. Background Disorders of sex development are lifelong conditions that create bodily difference such as absence of reproductive organs which can impact on young women’s fertility and sexual experiences. Design Interpretive phenomenological analysis with thirteen young women (14-19 years old) with a disorder of sex development. Methods The young women chose to participate in either a face-to-face semi-structured interview or to complete a paper diary between 2011–2012. Results A superordinate theme focusing on the meaning bodily differences held for these young women is presented through three themes: self-awareness and communicating this to others; actualizing intimacy; and expressing meaning of altered fertility to self or professionals or partners. During early adolescence, the young women were guarded and reticent about sharing personal information about their disorder of sex development but as they moved towards adulthood, some of the young women learnt to engage in conversations with more confidence. Frustrations about their bodily differences and the limitations of their bodies were talked about as factors which limited physical spontaneity, impacted on their perceived sexual fulfilment and challenged the development or sustainability of close friendships or intimate partnerships. The young women wanted empathic, sensitive support from knowledgeable health professionals to help them understand their bodies. Conclusion Attachment and a ‘sense of being’ were the concepts that were closely linked to the young women’s development of a secure identity. PMID:25893820

  8. Angiotensin Converting Enzyme 2 Contributes to Sex Differences in the Development of Obesity Hypertension in C57BL/6 Mice

    PubMed Central

    Gupte, Manisha; Thatcher, Sean E.; Boustany-Kari, Carine M.; Shoemaker, Robin; Yiannikouris, Frederique; Zhang, Xuan; Karounos, Michael; Cassis, Lisa A.

    2012-01-01

    Objective Obesity promotes hypertension, but it is unclear if sex differences exist in obesity-related hypertension. Angiotensin converting enzyme 2 (ACE2) converts angiotensin II (AngII) to angiotensin-(1–7) (Ang-[1–7]), controlling peptide balance. We hypothesized that tissue-specific regulation of ACE2 by high-fat (HF) feeding and sex hormones contributes to sex differences in obesity-hypertension. Methods and Results HF-fed females gained more body weight and fat mass than males. HF-fed males exhibiting reduced kidney ACE2 activity had increased plasma angiotensin II levels and decreased plasma Ang-(1–7) levels. In contrast, HF-fed females exhibiting elevated adipose ACE2 activity had increased plasma Ang-(1–7) levels. HF-fed males had elevated systolic and diastolic blood pressure that were abolished by losartan. In contrast, HF-fed females did not exhibit increased systolic blood pressure until females were administered the Ang-(1–7) receptor antagonist, D-Ala-Ang-(1–7). Deficiency of ACE2 increased systolic blood pressure in HF-fed males and females, which was abolished by losartan. Ovariectomy of HF-fed female mice reduced adipose ACE2 activity and plasma Ang-(1–7) levels, and promoted obesity-hypertension. Finally, estrogen, but not other sex hormones, increased adipocyte ACE2 mRNA abundance. Conclusions These results demonstrate that tissue-specific regulation of ACE2 by diet and sex hormones contributes to sex differences in obesity-hypertension. PMID:22460555

  9. Morphological abnormalities in elasmobranchs.

    PubMed

    Moore, A B M

    2015-08-01

    A total of 10 abnormal free-swimming (i.e., post-birth) elasmobranchs are reported from The (Persian-Arabian) Gulf, encompassing five species and including deformed heads, snouts, caudal fins and claspers. The complete absence of pelvic fins in a milk shark Rhizoprionodon acutus may be the first record in any elasmobranch. Possible causes, including the extreme environmental conditions and the high level of anthropogenic pollution particular to The Gulf, are briefly discussed. PMID:25903257

  10. [Congenital foot abnormalities].

    PubMed

    Delpont, M; Lafosse, T; Bachy, M; Mary, P; Alves, A; Vialle, R

    2015-03-01

    The foot may be the site of birth defects. These abnormalities are sometimes suspected prenatally. Final diagnosis depends on clinical examination at birth. These deformations can be simple malpositions: metatarsus adductus, talipes calcaneovalgus and pes supinatus. The prognosis is excellent spontaneously or with a simple orthopedic treatment. Surgery remains outstanding. The use of a pediatric orthopedist will be considered if malposition does not relax after several weeks. Malformations (clubfoot, vertical talus and skew foot) require specialized care early. Clubfoot is characterized by an equine and varus hindfoot, an adducted and supine forefoot, not reducible. Vertical talus combines equine hindfoot and dorsiflexion of the forefoot, which is performed in the midfoot instead of the ankle. Skew foot is suspected when a metatarsus adductus is resistant to conservative treatment. Early treatment is primarily orthopedic at birth. Surgical treatment begins to be considered after walking age. Keep in mind that an abnormality of the foot may be associated with other conditions: malposition with congenital hip, malformations with syndromes, neurological and genetic abnormalities. PMID:25524290

  11. Chromosome abnormalities in glioma

    SciTech Connect

    Li, Y.S.; Ramsay, D.A.; Fan, Y.S.

    1994-09-01

    Cytogenetic studies were performed in 25 patients with gliomas. An interesting finding was a seemingly identical abnormality, an extra band on the tip of the short arm of chromosome 1, add(1)(p36), in two cases. The abnormality was present in all cells from a patient with a glioblastoma and in 27% of the tumor cells from a patient with a recurrent irradiated anaplastic astrocytoma; in the latter case, 7 unrelated abnormal clones were identified except 4 of those clones shared a common change, -Y. Three similar cases have been described previously. In a patient with pleomorphic astrocytoma, the band 1q42 in both homologues of chromosome 1 was involved in two different rearrangements. A review of the literature revealed that deletion of the long arm of chromosome 1 including 1q42 often occurs in glioma. This may indicate a possible tumor suppressor gene in this region. Cytogenetic follow-up studies were carried out in two patients and emergence of unrelated clones were noted in both. A total of 124 clonal breakpoints were identified in the 25 patients. The breakpoints which occurred three times or more were: 1p36, 1p22, 1q21, 1q25, 3q21, 7q32, 8q22, 9q22, 16q22, and 22q13.

  12. Anatomical Abnormalities in Autism?

    PubMed

    Haar, Shlomi; Berman, Sigal; Behrmann, Marlene; Dinstein, Ilan

    2016-04-01

    Substantial controversy exists regarding the presence and significance of anatomical abnormalities in autism spectrum disorders (ASD). The release of the Autism Brain Imaging Data Exchange (∼1000 participants, age 6-65 years) offers an unprecedented opportunity to conduct large-scale comparisons of anatomical MRI scans across groups and to resolve many of the outstanding questions. Comprehensive univariate analyses using volumetric, thickness, and surface area measures of over 180 anatomically defined brain areas, revealed significantly larger ventricular volumes, smaller corpus callosum volume (central segment only), and several cortical areas with increased thickness in the ASD group. Previously reported anatomical abnormalities in ASD including larger intracranial volumes, smaller cerebellar volumes, and larger amygdala volumes were not substantiated by the current study. In addition, multivariate classification analyses yielded modest decoding accuracies of individuals' group identity (<60%), suggesting that the examined anatomical measures are of limited diagnostic utility for ASD. While anatomical abnormalities may be present in distinct subgroups of ASD individuals, the current findings show that many previously reported anatomical measures are likely to be of low clinical and scientific significance for understanding ASD neuropathology as a whole in individuals 6-35 years old. PMID:25316335

  13. Learning Disabilities in Children with Sex Chromosome Anomalies.

    ERIC Educational Resources Information Center

    Pennington, Bruce F.; And Others

    1982-01-01

    Results obtained from 44 children (ages 7 through 16) with sex chromosome abnormalities and from 17 chromosomally normal siblings demonstrated that children in the former group have an increased risk of encountering learning problems. (MP)

  14. Sex Education.

    ERIC Educational Resources Information Center

    Williams, Sue

    1991-01-01

    This discussion of sex education for individuals with intellectual disabilities outlines Delys Sergeant's "coat hanger theory," which involves three coats or phases of sexuality: a physiological stimulus response coat; a reproductive coat; and a coat of attitudes, values, and self-esteem. Influences acting on individuals' sexuality include family,…

  15. Bmp7 and Lef1 are the downstream effectors of androgen signaling in androgen-induced sex characteristics development in medaka.

    PubMed

    Ogino, Yukiko; Hirakawa, Ikumi; Inohaya, Keiji; Sumiya, Eri; Miyagawa, Shinichi; Denslow, Nancy; Yamada, Gen; Tatarazako, Norihisa; Iguchi, Taisen

    2014-02-01

    Androgens play key roles in the morphological specification of male type sex attractive and reproductive organs, whereas little is known about the developmental mechanisms of such secondary sex characters. Medaka offers a clue about sexual differentiation. They show a prominent masculine sexual character for appendage development, the formation of papillary processes in the anal fin, which has been induced in females by exogenous androgen exposure. This current study shows that the development of papillary processes is promoted by androgen-dependent augmentation of bone morphogenic protein 7 (Bmp7) and lymphoid enhancer-binding factor-1 (Lef1). Androgen receptor (AR) subtypes, AR? and AR?, are expressed in the distal region of outgrowing bone nodules of developing papillary processes. Development of papillary processes concomitant with the induction of Bmp7 and Lef1 in the distal bone nodules by exposure to methyltestosterone was significantly suppressed by an antiandrogen, flutamide, in female medaka. When Bmp signaling was inhibited in methyltestosterone-exposed females by its inhibitor, dorsomorphin, Lef1 expression was suppressed accompanied by reduced proliferation in the distal bone nodules and retarded bone deposition. These observations indicate that androgen-dependent expressions of Bmp7 and Lef1 are required for the bone nodule outgrowth leading to the formation of these secondary sex characteristics in medaka. The formation of androgen-induced papillary processes may provide insights into the mechanisms regulating the specification of sexual features in vertebrates. PMID:24248458

  16. Does economic development contribute to sex differences in ischaemic heart disease mortality? Hong Kong as a natural experiment using a case-control study

    PubMed Central

    Schooling, C Mary; Lam, Tai Hing; Ho, Sai Yin; Mak, Kwok Hang; Leung, Gabriel M

    2008-01-01

    Background The male excess risk of premature ischemic heart disease (IHD) mortality may be partially due to an unknown macro-environmental influence associated with economic development. We examined whether excess male risk of IHD mortality was higher with birth in an economically developed environment. Methods We used multivariable logistic regression in a population-based case-control study of all adult deaths in Hong Kong Chinese in 1998 to compare sex differences in IHD mortality (1,189 deaths in men, 1,035 deaths in women and 20,842 controls) between Hong Kong residents born in economically developed Hong Kong or in contemporaneously undeveloped Guangdong province in China. Results Younger (35–64 years) native-born Hong Kong men had a higher risk of IHD death than such women (odds ratio 2.91, 95% confidence interval 1.66 to 5.13), adjusted for age, socio-economic status and lifestyle. There was no such sex difference in Hong Kong residents who had migrated from Guangdong. There were no sex differences in pneumonia deaths by birth place. Conclusion Most of these people migrated as young adults; we speculate that environmentally mediated differences in pubertal maturation (when the male disadvantage in lipids and fat patterning emerges) may contribute to excess male premature IHD mortality in developed environments. PMID:18221504

  17. Chromosome Imbalance as a Driver of Sex Disparity in Disease

    PubMed Central

    Abramowitz, Lara K.; Olivier-Van Stichelen, Stéphanie; Hanover, John A.

    2014-01-01

    It has long been recognized that men and women exhibit different risks for diverse disorders ranging from metabolic to autoimmune diseases. However, the underlying causes of these disparities remain obscure. Analysis of patients with chromosomal abnormalities, including Turner syndrome (45X) and Klinefelter syndrome (47XXY), has highlighted the importance of X-linked gene dosage as a contributing factor for disease susceptibility. Escape from X-inactivation and X-linked imprinting can result in transcriptional differences between normal men and women as well as in patients with sex chromosome abnormalities. Animal models support a role for X-linked gene dosage in disease with O-linked N-acetylglucosamine transferase (OGT) emerging as a prime candidate for a pleiotropic effector. OGT encodes a highly regulated nutrient-sensing epigenetic modifier with established links to immunity, metabolism and development. PMID:25031659

  18. "Saving Sex for Later": Developing a Parent-Child Communication Intervention to Delay Sexual Initiation among Young Adolescents

    ERIC Educational Resources Information Center

    O'Donnell, Lydia; Wilson-Simmons, Renee; Dash, Kim; Jeanbaptiste, Varzi; Myint-U, Athi; Moss, Jesse; Stueve, Ann

    2007-01-01

    Young adolescents in communities with high rates of early sexual initiation are at risk of multiple negative health outcomes. Although sex education programs for this age group are often controversial, surveys document that many mothers and fathers would appreciate guidance about how to discuss sexuality with their children. This paper presents an…

  19. The Role of Maternal Control in the Development of Sex Differences in Child Self-Evaluative Factors.

    ERIC Educational Resources Information Center

    Pomerantz, Eva M.; Ruble, Diane N.

    1998-01-01

    Examined relationship of maternal control and sex differences in children taking responsibility for failure and possessing strong standards. Found that, in using control, mothers were more likely to grant autonomy to boys than to girls. This socialization pattern partially mediated girls' tendency to take greater responsibility for failure than…

  20. "Saving Sex for Later": Developing a Parent-Child Communication Intervention to Delay Sexual Initiation among Young Adolescents

    ERIC Educational Resources Information Center

    O'Donnell, Lydia; Wilson-Simmons, Renee; Dash, Kim; Jeanbaptiste, Varzi; Myint-U, Athi; Moss, Jesse; Stueve, Ann

    2007-01-01

    Young adolescents in communities with high rates of early sexual initiation are at risk of multiple negative health outcomes. Although sex education programs for this age group are often controversial, surveys document that many mothers and fathers would appreciate guidance about how to discuss sexuality with their children. This paper presents an…