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1

Abnormal human sex chromosome constitutions  

SciTech Connect

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.

NONE

1993-12-31

2

Abnormalities of Sex Differentiation  

Microsoft Academic Search

Sex differentiation is determined by a cascade of events proceeding from chromosomal sex to the completion of sexual maturation at puberty. Many factors involved in this cascade have been identified. Here we focus on DAX-1, androgen receptor and cytochrome P450cl7, and discuss their functions in sex differentiation. We analyzed the DAX-1 genes of two unrelated Japanese patients with congenital adrenal

Hajime Nawata; Ryoichi Takayanagi; Toshihiko Yanase; Shoichiro Ikuyama; Taijirou Okabe

1996-01-01

3

Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency  

Microsoft Academic Search

Background  Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development\\u000a (DSD) in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations of below-optimal\\u000a final height in both males and females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, prompted us to\\u000a investigate prenatal growth in

Laura J Chalmers; Paul Doherty; Claude J Migeon; Kenneth C Copeland; Brianna C Bright; Amy B Wisniewski

2011-01-01

4

Comments on some genetic abnormalities of sex determination and sex differentiation in Homo sapiens  

Microsoft Academic Search

Man is a gonochoristic species with male hetero- and female homogamety. The basic plan of gonadal and genital development in both sexes is female unless testes are induced by H-Y antigen which is usually specified by the Y chromosome. Genitalia can develop in either direction in both sexes. In males testosterone produced by testicular Leydig cells causes Wolffian duct differentiation,

John M. Opitz

1980-01-01

5

Sex Chromosome Abnormalities in Two State Hospitals for Patients requiring Special Security  

Microsoft Academic Search

THE association between sex chromatin abnormality and mental sub-normality is well established. The incidence of sex chromatin abnormality in the new-born male and female population is about 0.2 per cent and 0.08 per cent respectively; in institutionalized mentally sub-normal male and female populations about 1 per cent and 0.4 per cent respectively. Court Brown1 reported that a high proportion of

M. D. Casey

1966-01-01

6

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

ERIC Educational Resources Information Center

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…

Walzer, Stanley

1985-01-01

7

How Sex Attitudes Develop  

ERIC Educational Resources Information Center

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.

Arnstein, Helene S.

1976-01-01

8

Ethical considerations regarding parental decisions for termination following prenatal diagnosis of sex chromosome abnormalities.  

PubMed

Termination rates following prenatal diagnosis of sex chromosome abnormalities have been reported to be in a very wide spectrum (12.7-86.5%) in various studies. The different attitudes in management of prenatal diagnosed sex chromosome abnormalities may depend on several factors as the type of the abnormality, the indication for prenatal testing, the number of previous healthy children and whether the pregnancy was assisted or spontaneous. In the current study, we look at prenatal diagnostic procedures carried out in our department over a period of 5 years (2002-2007). We did not detect sex chromosome abnormalities in the 43 cordocenteses and the 26 chorionic villus samples. Among the 1130 amniocentesis patients, 12 cases (1.06%) were diagnosed as having sex chromosome abnormalities. Five (41.67%) of 12 pregnancies with sex chromosome abnormalities were terminated (one case with 47,XXY, one case with 46,X,del(X), and three cases with 45,X karyotype); whereas seven pregnancies (58.33%) continued. Among the factors influencing parents' decision-making, the attitude of the health-care professional giving the post-diagnosis counseling seems to be the most important, next to the socio-economic and educational status of the parents. PMID:18990991

Yilmaz, Z; Sahin, F I; Bulakbasi, T; Yüregir, O O; Tarim, E; Yanik, F

2008-01-01

9

Non-invasive prenatal testing for sex chromosome abnormalities: a source of confusion.  

PubMed

Cell-free fetal DNA has received significant attention for the purposes of prenatal genetic testing in the past decade. Fetal DNA testing is a new method and promising for many applications such as aneuploidy screening, prenatal diagnosis, prediction of preeclampsia and more. A 37-year-old primigravida, with a pregnancy conceived by intracytoplasmic sperm injection (ICSI), was offered non-invasive prenatal testing (NIPT) due to advanced maternal age. NIPT performed at 23?weeks' gestation reported a diagnosis of monosomy X. She was offered an amniocentesis, which revealed a euploid fetus with no sex chromosome abnormalities. Even with single nucleotide polymorphism-based NIPT, positive predictive value for detection of sex chromosome abnormalities is around 50%. Positive results of NIPT should be heeded with caution and an invasive diagnostic procedure should be performed, especially for rare chromosomal abnormalities and sex chromosome abnormalities where NIPT performs subpar compared to its performance for detection of trisomy 21. PMID:25631759

Kalafat, Erkan; Seval, Mehmet Murat; Turgay, Batuhan; Koç, Acar

2015-01-01

10

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

PubMed Central

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

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

1994-01-01

11

Gonadal and Sex Differentiation Abnormalities of Dogs and Cats  

PubMed Central

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

Meyers-Wallen, V.N.

2012-01-01

12

Abnormal Cingulum Bundle Development in Autism: A Probabilistic Tractography Study  

PubMed Central

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

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

2014-01-01

13

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

PubMed

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

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

2014-01-30

14

Sex hormone replacement in disorders of sex development.  

PubMed

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

Birnbaum, Wiebke; Bertelloni, Silvano

2014-01-01

15

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

MedlinePLUS

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

16

Gross Motor Development, Movement Abnormalities, and Early Identification of Autism  

PubMed Central

Gross motor development (supine, prone, rolling, sitting, crawling, walking) and movement abnormalities were examined in the home videos of infants later diagnosed with autism (regression and no regression subgroups), developmental delays (DD), or typical development. Group differences in maturity were found for walking, prone, and supine, with the DD and Autism-No Regression groups both showing later developing motor maturity than typical children. The only statistically significant differences in movement abnormalities were in the DD group; the two autism groups did not differ from the typical group in rates of movement abnormalities or lack of protective responses. These findings do not replicate previous investigations suggesting that early motor abnormalities seen on home video can assist in early identification of autism. PMID:17805956

Young, Gregory S.; Goldring, Stacy; Greiss-Hess, Laura; Herrera, Adriana M.; Steele, Joel; Macari, Suzanne; Hepburn, Susan; Rogers, Sally J.

2015-01-01

17

Sex ratio of congenital abnormalities in the function of maternal age: A population-based study.  

PubMed

Maternal age effect is well-known in the origin of numerical chromosomal aberrations and some isolated congenital abnormalities (CAs). The sex ratio (SR), i.e. number of males divided by the number of males and females together, of most CAs deviates from the SR of newborn population (0.51). The objective of this analysis was to evaluate the possible association of maternal age with the SR of isolated CAs in a population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996. First, SR of 24 CA entities/groups was estimated in 21?494 patients with isolated CA. In the next step SR of different maternal age groups was compared to the mean SR of the given CA-groups. The SR of four CA-groups showed some deviation in certain maternal age groups. Cases with anencephaly had female excess in young mothers (<25 years). Cases with skull's CAs particularly craniosynostosis had a male excess in cases born to women over 30 years. Two other CA groups (cleft lip?±?palate and valvar pulmonic stenosis within the group of right-sided obstructive defect of heart) had significant deviation in SR of certain maternal age groups from the mean SR, but these deviations were not harmonized with joining age groups and thus were considered as a chance effect due to multiple testing. In conclusion, our study did not suggest that in general SR of isolated CAs might be modified by certain maternal age groups with some exception such as anencephaly and craniosynostosis. PMID:25354028

Csermely, Gyula; Urbán, Robert; Czeizel, Andrew E; Veszprémi, Béla

2015-05-01

18

Gross Motor Development, Movement Abnormalities, and Early Identification of Autism  

ERIC Educational Resources Information Center

Gross motor development (supine, prone, rolling, sitting, crawling, walking) and movement abnormalities were examined in the home videos of infants later diagnosed with autism (regression and no regression subgroups), developmental delays (DD), or typical development. Group differences in maturity were found for walking, prone, and supine, with…

Ozonoff, Sally; Young, Gregory S.; Goldring, Stacy; Greiss-Hess, Laura; Herrera, Adriana M.; Steele, Joel; Macari, Suzanne; Hepburn, Susan; Rogers, Sally J.

2008-01-01

19

Moral Development of Solo Juvenile Sex Offenders  

ERIC Educational Resources Information Center

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…

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

2008-01-01

20

Management of disorders of sex development.  

PubMed

The medical term disorders of sex development (DSDs) is used to describe individuals with an atypical composition of chromosomal, gonadal and phenotypic sex, which leads to differences in the development of the urogenital tract and reproductive system. A variety of genetic factors have been identified that affect sex development during gonadal differentiation or in specific disorders associated with altered androgen biosynthesis or action. The diagnosis of DSDs in individuals and the subsequent management of patients and their families requires a targeted and structured approach, involving a multidisciplinary team with effective communication between the disciplines. This approach includes distinct clinical, imaging, laboratory and genetic evaluations of patients with DSDs. Although treatment of patients with DSDs can include endocrine and surgical options, many patients have concerns that arise from past incorrect treatments that were founded on the traditional binary concept of the sexes. To dispel these concerns, it is necessary to create centres of expertise for DSDs that include physicians, surgeons, psychologists and specialists in diagnostic procedures to manage patients and their families. Additionally, the inclusion of trained peer support in the multidisciplinary DSD team seems to be integral to the supportive management of patients with DSDs. Most importantly, dealing with DSDs requires acceptance of the fact that deviation from the traditional definitions of gender is not necessarily pathologic. PMID:25022812

Hiort, Olaf; Birnbaum, Wiebke; Marshall, Louise; Wünsch, Lutz; Werner, Ralf; Schröder, Tatjana; Döhnert, Ulla; Holterhus, Paul-Martin

2014-09-01

21

Early motor development is abnormal in complexin 1 knockout mice  

Microsoft Academic Search

Complexin I expression is dysregulated in a number of neurological diseases including schizophrenia and depression. Adult complexin 1 knockout (Cplx1?\\/?) mice are severely ataxic and show deficits in exploration and emotional reactivity. Here, we evaluated early behavioural development of Cplx1?\\/? mice. Cplx1?\\/? mice showed marked abnormalities. They develop ataxia by post-natal day 7 (P7), and by P21 show marked deficits

Dervila Glynn; Rachel J. Sizemore; A. Jennifer Morton

2007-01-01

22

Abnormal retinal development associated with FRMD7 mutations  

PubMed Central

Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder, often associated with FRMD7 mutations. As the appearance of the retina is reported to be normal based on conventional fundus photography, IIN is postulated to arise from abnormal cortical development. To determine whether the afferent visual system is involved in FRMD7 mutations, we performed in situ hybridization studies in human embryonic and fetal stages (35 days post-ovulation to 9 weeks post-conception). We show a dynamic retinal expression pattern of FRMD7 during development. We observe expression within the outer neuroblastic layer, then in the inner neuroblastic layer and at 9 weeks post-conception a bilaminar expression pattern. Expression was also noted within the developing optic stalk and optic disk. We identified a large cohort of IIN patients (n = 100), and performed sequence analysis which revealed 45 patients with FRMD7 mutations. Patients with FRMD7 mutations underwent detailed retinal imaging studies using ultrahigh-resolution optical coherence tomography. The tomograms were compared with a control cohort (n = 60). The foveal pit was significantly shallower in FRMD7 patients (P < 0.0001). The optic nerve head morphology was abnormal with significantly decreased optic disk area, retinal nerve fiber layer thickness, cup area and cup depth in FRMD7 patients (P < 0.0001). This study shows for the first time that abnormal afferent system development is associated with FRMD7 mutations and could be an important etiological factor in the development of nystagmus. PMID:24688117

Thomas, Mervyn G.; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Araki, Masasuke; Leroy, Bart P.; McLean, Rebecca J.; Sheth, Viral; Maconachie, Gail; Thomas, Shery; Moore, Anthony T.; Gottlob, Irene

2014-01-01

23

Abnormal retinal development associated with FRMD7 mutations.  

PubMed

Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder, often associated with FRMD7 mutations. As the appearance of the retina is reported to be normal based on conventional fundus photography, IIN is postulated to arise from abnormal cortical development. To determine whether the afferent visual system is involved in FRMD7 mutations, we performed in situ hybridization studies in human embryonic and fetal stages (35 days post-ovulation to 9 weeks post-conception). We show a dynamic retinal expression pattern of FRMD7 during development. We observe expression within the outer neuroblastic layer, then in the inner neuroblastic layer and at 9 weeks post-conception a bilaminar expression pattern. Expression was also noted within the developing optic stalk and optic disk. We identified a large cohort of IIN patients (n = 100), and performed sequence analysis which revealed 45 patients with FRMD7 mutations. Patients with FRMD7 mutations underwent detailed retinal imaging studies using ultrahigh-resolution optical coherence tomography. The tomograms were compared with a control cohort (n = 60). The foveal pit was significantly shallower in FRMD7 patients (P < 0.0001). The optic nerve head morphology was abnormal with significantly decreased optic disk area, retinal nerve fiber layer thickness, cup area and cup depth in FRMD7 patients (P < 0.0001). This study shows for the first time that abnormal afferent system development is associated with FRMD7 mutations and could be an important etiological factor in the development of nystagmus. PMID:24688117

Thomas, Mervyn G; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Araki, Masasuke; Leroy, Bart P; McLean, Rebecca J; Sheth, Viral; Maconachie, Gail; Thomas, Shery; Moore, Anthony T; Gottlob, Irene

2014-08-01

24

Offspring sex ratio of subfertile men and men with abnormal sperm characteristics.  

PubMed

Previous work has suggested an association between male subfertility and a female-biased offspring sex ratio. This study of the reproduction of men who had a semen analysis at the Sperm Analysis Laboratory in Copenhagen in the period 1963-1993 showed that the subfertile men had an offspring sex ratio as expected (51.0% boys versus 51.3%, P: = 0.56), and within the cohort, the offspring sex ratio had no material association with particular semen characteristics. Our results thus suggest that no important association exists between general male subfertility and a female-biased offspring sex ratio. PMID:11056134

Jacobsen, R; Bostofte, E; Skakkebaek, N E; Hansen, J; Moller, H

2000-11-01

25

Moral development of solo juvenile sex offenders  

Microsoft Academic Search

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 judgement was assessed with the Sociomoral Reflection Measure –

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

2008-01-01

26

BETA-ENDORPHIN LEVELS IN LONGTAILED AND PIGTAILED MACAQUES VARY BY ABNORMAL BEHAVIOR RATING AND SEX  

PubMed Central

Frequent or severe abnormal behavior may be associated with the release of endorphins that positively reinforce the behavior with an opiate euphoria or analgesia. One line of research exploring this association involves the superhormone, proopiomelanocortin (POMC). The products of POMC appear to be dysregulated in some human subjects who exhibit self-injurious behavior (SIB). Macaque monkeys have POMC very similar to humans, and some laboratory macaques display SIB or frequent stereotypies. We investigated associations between plasma levels of three immunoreactive POMC fragments with possible opioid action and abnormal behavior ratings in macaques. In 58 adult male and female macaques (24 Macaca fascicularis and 34 M. nemestrina), plasma levels of intact beta-endorphin (?E) and the N-terminal fragment (BEN) were significantly higher in animals with higher levels of abnormal behavior. The C-terminal fragment (BEC) was significantly higher in males but unrelated to ratings of abnormal behavior. Levels of ACTH, cortisol, and (?E-ACTH)/?E dysregulation index were unrelated to abnormal behavior. None of the POMC products differed significantly by subjects' species, age, or weight. The finding that intact beta-endorphin is positively related to abnormal behavior in two species of macaque is consistent with some previous research on human subjects and nonprimates. The positive relation of the N-terminal fragment of ?E to abnormal behavior is a new finding. PMID:17719139

Crockett, Carolyn M.; Sackett, Gene P.; Sandman, Curt A.; Chicz-DeMet, Aleksandra; Bentson, Kathleen L.

2007-01-01

27

The Influence of Abnormal Sex Differences in Life Expectancy on National Happiness  

Microsoft Academic Search

Countries with better health, as indexed by life expectancy, score higher on subjective well-being (SWB). It was predicted\\u000a that deviations from the average sex difference in life expectancy (reflecting reproductive competition among males and discrimination\\u000a against females) would be inversely related to happiness. Regression analysis of SWB for 178 countries found that deviations\\u000a from the average sex difference in life

Nigel Barber

2009-01-01

28

Mammalian sex determination and gonad development.  

PubMed

From a developmental biology perspective, gonadogenesis is of particular interest because it provides a unique example of how distinct organs, the testis and ovary, can arise from a common bipotential primordium. Gonadogenesis is also highly relevant from a clinical perspective, as congenital disorders of sex development (DSDs) are not uncommon, occurring in approximately 1 in 4500 live births. In recent years, there has been significant progress in our understanding of the genes and pathways that control important aspects of gonadogenesis including the initial decision to develop as a testis or ovary (sex determination), elaboration and cross-repression of the testis and ovary developmental pathways, and maintenance of the gonadal phenotype after birth. In this chapter, we provide an overview of gonadal morphogenesis and cell lineage specification, focusing primarily on these processes in mice and humans. We also provide an update on the genetic mechanisms that control murine gonadogenesis and maintenance and, where possible, discuss new insights into the pathological mechanisms of DSDs associated with mutation of orthologous genes in mice and humans. PMID:24290348

Wilhelm, Dagmar; Yang, Jennifer X; Thomas, Paul

2013-01-01

29

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

ERIC Educational Resources Information Center

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…

Black, Kathryn Norcross; Campbell, Kathleen M.

30

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

PubMed

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

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

2014-07-01

31

Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X  

PubMed Central

Background Monosomy × or 45,X is a cytogenetic characteristic for Turner syndrome. This chromosome anomaly is encountered in around 50% of cases, but wide variations of other anomalies have been found. This report is to describe the cytogenetic characteristics of 45,X individuals. To the best of our knowledge, there were no large series of 45,X cases has been reported from Indonesia. Results Ninety five cases with 45,X cell line found, of which 60 were detected by karyotyping, 4 by FISH for sex chromosomes, and 31 by both karyotyping and FISH. Using karyotyping 37 out of 91 cases(40.6%) were identified as 45,X individuals, while cases who underwent FISH only 4 out of 35 cases (11.4%) showed 45,X result, resulting in total of 39 45,X cases (41.1%), and the rest 56 (58.9%) cases are mosaic. Among these cases, 21 out of 95 (22.1%) have Y or part of Y as the second or third sex chromosome in their additional cell lines. Result discrepancies revealed in 22 out of 31 cases who underwent both FISH and karyotyping, of which 7 showed normal 46,XX or 46,XY karyotypes, but by FISH, additional monosomy × cell line was found. Most of the cases were referred at the age of puberty (8-13 years old) or after that (14-18 years old), 31 and 21 cases respectively, and there were 14 cases were sent in adulthood. Conclusion Wide variations of sex chromosome aberrations have been detected using the combination of conventional cytogenetic and FISH, including detection of low level of mosaicism and Y-chromosome fragments. Result discrepancies using both techniques were found in 22/31 cases, and in order to obtain a more details of sex chromosome constitution of individuals with 45,X cell line both FISH and karyotyping should be carried out simultaneously. PMID:21992692

2011-01-01

32

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

PubMed

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

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

33

Meiotic abnormalities  

SciTech Connect

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.

NONE

1993-12-31

34

Another Look at Parental Antecedents of Sex Role Development.  

ERIC Educational Resources Information Center

Social learning theory maintains that parents incluence sex development by modeling and reinforcing masculinity and femininity. To further examine the effects of parental modeling and reinforcement antecedents on sex role development, 103 college students (52 female, 51 male) who had been previously categorized as masculine, feminine, or…

Jackson, Linda A.; And Others

35

Sex differences in intellectual and ego development in late adolescence  

Microsoft Academic Search

Perry's scheme of intellectual and ethical development was examined for sex differences with respect to areas of identity concern for which sex differences have been suggested: occupational choice, interpersonal relationships, and sexual identity. The content area of religion and ego development, as measured by Loevinger's sentence completion test (SCT), were also examined. Thirty-one females and 29 males participated. An interview

Kip C. Alishio; Karen Maitland Schilling

1984-01-01

36

Development of a Sex Anxiety Inventory.  

ERIC Educational Resources Information Center

Results indicate that the scale is psychometrically sound and has discriminant validity in relation to the Mosher Forced-Choice Guilt Inventory Sex Guilt subscale. The clinical implications of distinguishing between sexual anxiety and sexual guilt are discussed. (Author)

Janda, Louis H.; O'Grady, Kevin E.

1980-01-01

37

Techniques and Materials for Developing Positive Sex Role Identification.  

ERIC Educational Resources Information Center

The premise of this paper is that teacher behavior and attitudes which uphold traditional sex stereotypes of masculinity and femininity, in which the male is always aggressive and unfeeling and the female is always passive and sensitive, are harmful to the psychological development of children. A positive sex role identification would include a…

Sheridan, E. Marcia

38

Development of Sex-Typed Play Behavior in Toddlers  

Microsoft Academic Search

Preference for and play with same-sex-stereotyped toys is one of the earliest manifestations of sex role development in young children. In this study, naturalistic observations of the play of 52 toddlers with a set of socially stereotyped masculine, feminine, and neutral toys were made in a day care setting over 14 months. In addition, two potential influences on toy choice

Marion OBrien; Aletha C. Huston

1985-01-01

39

Abnormal Canine Bone Development Associated with Hypergravity Exposure  

NASA Technical Reports Server (NTRS)

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.

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

1979-01-01

40

The Development of Sex-Role Identity in Children from Father-Absent Families.  

ERIC Educational Resources Information Center

Research investigating the development of sex-role identity in children from father-absent families was reviewed using Biller and Borstelmann's (1967) three-fold conceptualization of sex-role identity as sex-role orientation, sex-role preference, and sex-role adoption as an organizational framework. The review revealed that sex-role orientation…

Beachy, Robert James

41

Prenatal craniofacial development: new insights on normal and abnormal mechanisms.  

PubMed

Technical advances are radically altering our concepts of normal prenatal craniofacial development. These include concepts of germ layer formation, the establishment of the initial head plan in the neural plate, and the manner in which head segmentation is controlled by regulatory (homeobox) gene activity in neuromeres and their derived neural crest cells. There is also a much better appreciation of ways in which new cell associations are established. For example, the associations are achieved by neural crest cells primarily through cell migration and subsequent cell interactions that regulate induction, growth, programmed cell death, etc. These interactions are mediated primarily by two groups of regulatory molecules: "growth factors" (e.g., FGF and TGFalpha) and the so-called steroid/thyroid/retinoic acid superfamily. Considerable advances have been made with respect to our understanding of mechanisms involved in primary and secondary palate formation, such as growth, morphogenetic movements, and the fusion/merging phenomenon. Much progress has been made on the mechanisms involved in the final differentiation of skeletal tissues. Molecular genetics and animal models for human malformations are providing many insights into abnormal development. A mouse model for the fetal alcohol syndrome(FAS), a mild form of holoprosencephaly, demonstrates a mid-line anterior neural plate deficiency which leads to olfactory placodes being positioned too close to the mid-line, and other secondary changes. Work on animal models for the retinoic acid syndrome (RAS) shows that there is major involvement of neural crest cells. There is also major crest cell involvement in similar syndromes, apparently including hemifacial microsomia. Later administration of retinoic acid prematurely and excessively kills ganglionic placodal cells and leads to a malformation complex virtually identical to the Treacher Collins syndrome. Most clefts of the lip and/or palate appear to have a multifactorial etiology. Genetic variations in TGF alpha s, RAR alpha s, NADH dehydrogenase, an enzyme involved in oxidative metabolism, and cytochrome P-450, a detoxifying enzyme, have been implicated as contributing genetic factors. Cigarette smoking, with the attendant hypoxia, is a probable contributing environmental factor. It seems likely that few clefts involve single major genes. In most cases, the pathogenesis appears to involve inadequate contact and/or fusion of the facial prominences or palatal shelves. Specific mutations in genes for different FGF receptor molecules have been identified for achondroplasia and Crouzon's syndrome, and in a regulatory gene (Msx2) for one type of craniosynostosis.(ABSTRACT TRUNCATED AT 400 WORDS) PMID:7632866

Johnston, M C; Bronsky, P T

1995-01-01

42

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes  

Microsoft Academic Search

BACKGROUND: Gender appears to be determined by independent programs controlled by the sex-chromosomes and by androgen-dependent programming during embryonic development. To enable experimental dissection of these components in the human, we performed genome-wide profiling of the transcriptomes of peripheral blood mononuclear cells (PBMC) in patients with rare defined \\

Paul-Martin Holterhus; Jan-Hendrik Bebermeier; Ralf Werner; Janos Demeter; Annette Richter-Unruh; Gunnar Cario; Mahesh Appari; Reiner Siebert; Felix Riepe; James D Brooks; Olaf Hiort

2009-01-01

43

The growth arrest specific gene ( gas6 ) protein is expressed in abnormal embryos sired by male golden hamsters with accessory sex glands removed  

Microsoft Academic Search

Expression of growth arrest specific gene (gas6) and its receptors in embryonic and uterine tissues in normal pregnancy and pregnancy that produces abnormal embryos sired by hamsters with partial or total deletion of male accessory sex glands was studied by in situ hybridization, immunohistochemistry, reverse-transcription polymerization reaction and enzyme-linked immunoabsorbant assay. At oestrus, very strong gas6 mRNA and Gas6 expression

H. Y. Jiang; K. H. Lee; C. Schneider; W. S. O; P. L. Tang; P. H. Chow

2001-01-01

44

Sex determination of duck embryos: observations on syrinx development  

USGS Publications Warehouse

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.

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

2013-01-01

45

Minor Abnormalities of Testis Development in Mice Lacking the Gene Encoding the MAPK Signalling Component, MAP3K1  

PubMed Central

In mammals, the Y chromosome is a dominant male determinant, causing the bipotential gonad to develop as a testis. Recently, cases of familial and spontaneous 46,XY disorders of sex development (DSD) have been attributed to mutations in the human gene encoding mitogen-activated protein kinase kinase kinase 1, MAP3K1, a component of the mitogen-activated protein kinase (MAPK) signal transduction pathway. In individuals harbouring heterozygous mutations in MAP3K1, dysregulation of MAPK signalling was observed in lymphoblastoid cell lines, suggesting a causal role for these mutations in disrupting XY sexual development. Mice lacking the cognate gene, Map3k1, are viable and exhibit the eyes open at birth (EOB) phenotype on a mixed genetic background, but on the C57BL/6J genetic background most mice die at around 14.5 dpc due to a failure of erythropoiesis in the fetal liver. However, no systematic examination of sexual development in Map3k1-deficient mice has been described, an omission that is especially relevant in the case of C57BL/6J, a genetic background that is sensitized to disruptions to testis determination. Here, we report that on a mixed genetic background mice lacking Map3k1 are fertile and exhibit no overt abnormalities of testis development. On C57BL/6J, significant non-viability is observed with very few animals surviving to adulthood. However, an examination of development in Map3k1-deficient XY embryos on this genetic background revealed no significant defects in testis determination, although minor abnormalities were observed, including an increase in gonadal length. Based on these observations, we conclude that MAP3K1 is not required for mouse testis determination. We discuss the significance of these data for the functional interpretation of sex-reversing MAP3K1 mutations in humans. PMID:21559298

Warr, Nick; Brixey, Rachel; Tateossian, Hilda; Dopplapudi, Asha; Wells, Sara; Cheeseman, Michael; Xia, Ying; Ostrer, Harry; Greenfield, Andy

2011-01-01

46

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

NASA Astrophysics Data System (ADS)

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.

Vashchenko, M. A.

1980-03-01

47

Sex differences in identity and intimacy development in college youth  

Microsoft Academic Search

This study examined sex differences in the processes of identity and intimacy development among college youth. Fifty males, and 50 females were given measures of identity status, intimacy status, and self-esteem. Males were found to focus on intrapersonal aspects of identity status, intimacy status, and self-esteem. Males were found to focus on intrapersonal aspects of identity, females on interpersonal aspects.

James W. Hodgson; Judith L. Fischer

1979-01-01

48

Same-Sex Attraction and Successful Adolescent Development  

ERIC Educational Resources Information Center

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;…

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

2006-01-01

49

The Molecular Basis for Abnormal Human Lung Development  

Microsoft Academic Search

Our understanding of lung development in the past two decades has moved from an anatomical to a histological basis and, most recently, to a molecular basis. Tissue interactions specify tracheal and lung primordia formation, program branching morphogenesis of the airway epithelium and regulate epithelial differentiation. In addition, lung development is influenced by mechanical and humoral factors. The regulatory molecules involved

Frederick Groenman; Sharon Unger; Martin Post

2005-01-01

50

Abnormal Sympathoadrenal Development and Systemic Hypotension in PHD3?/? Mice?  

PubMed Central

Cell culture studies have implicated the oxygen-sensitive hypoxia-inducible factor (HIF) prolyl hydroxylase PHD3 in the regulation of neuronal apoptosis. To better understand this function in vivo, we have created PHD3?/? mice and analyzed the neuronal phenotype. Reduced apoptosis in superior cervical ganglion (SCG) neurons cultured from PHD3?/? mice is associated with an increase in the number of cells in the SCG, as well as in the adrenal medulla and carotid body. Genetic analysis by intercrossing PHD3?/? mice with HIF-1a+/? and HIF-2a+/? mice demonstrated an interaction with HIF-2? but not HIF-1?, supporting the nonredundant involvement of a PHD3-HIF-2? pathway in the regulation of sympathoadrenal development. Despite the increased number of cells, the sympathoadrenal system appeared hypofunctional in PHD3?/? mice, with reduced target tissue innervation, adrenal medullary secretory capacity, sympathoadrenal responses, and systemic blood pressure. These observations suggest that the role of PHD3 in sympathoadrenal development extends beyond simple control of cell survival and organ mass, with functional PHD3 being required for proper anatomical and physiological integrity of the system. Perturbation of this interface between developmental and adaptive signaling by hypoxic, metabolic, or other stresses could have important effects on key sympathoadrenal functions, such as blood pressure regulation. PMID:18332118

Bishop, Tammie; Gallagher, Denis; Pascual, Alberto; Lygate, Craig A.; de Bono, Joseph P.; Nicholls, Lynn G.; Ortega-Saenz, Patricia; Oster, Henrik; Wijeyekoon, Bhathiya; Sutherland, Andrew I.; Grosfeld, Alexandra; Aragones, Julian; Schneider, Martin; van Geyte, Katie; Teixeira, Dania; Diez-Juan, Antonio; Lopez-Barneo, Jose; Channon, Keith M.; Maxwell, Patrick H.; Pugh, Christopher W.; Davies, Alun M.; Carmeliet, Peter; Ratcliffe, Peter J.

2008-01-01

51

Adolescents and Sex Erin Morgan, Research Associate, Human Development, Virginia Tech, Virginia Tech  

E-print Network

Adolescents and Sex Erin Morgan, Research Associate, Human Development, Virginia Tech, Virginia any parents, teachers, and others who work with teens wonder how to address the topic of teens and sex. More teens have sex now than in the 1970s. Teens are also younger, on average, when they have sex

Liskiewicz, Maciej

52

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

PubMed

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. © 2015 International Parkinson and Movement Disorder Society. PMID:25820811

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

2015-04-15

53

The obese patient. A statistical study and analysis of symptoms, diagnosis and metabolic abnormalities. Sex differences—Treatment  

Microsoft Academic Search

Obesity itself is not a disease and should not be treated as such. Man)' obese subjects are healthy; most of them are not. However, in spite of the absence of any demonstrable anatomic changes or abnormal dynamics in many of these individuals, we consider obesity an undesirable state. This is so, not only from the standpoint of the unaesthetic factors

Henry M. Ray

1947-01-01

54

MAMLD1 and 46,XY disorders of sex development.  

PubMed

MAMLD1 (mastermind-like domain containing 1) is a recently discovered causative gene for 46,XY disorders of sex development (DSD), with hypospadias as the salient clinical phenotype. To date, microdeletions involving MAMLD1 have been identified in six patients, and definitive mutations (nonsense and frameshift mutations that are predicted to undergo nonsense mediated mRNA decay [NMD]) have been found in six patients. In addition, specific MAMLD1 cSNP(s) and haplotype may constitute a susceptibility factor for hypospadias. Furthermore, in vitro studies have revealed that (1) the mouse homolog is expressed in fetal Sertoli and Leydig cells around the critical period for sex development; (2) transient Mamld1 knockdown results in significantly reduced testosterone production primarily because of compromised 17?-hydroxylation and Cyp17a1 expression in Murine Leydig tumor cells; (3) MAMLD1 localizes to the nuclear bodies and transactivates the promoter activity of a non-canonical Notch target gene hairy/enhancer of split 3, without demonstrable DNA-binding capacity; and (4) MAMLD1 is regulated by steroidogenic factor 1 (SF1). These findings suggest that the MAMLD1 mutations cause 46,XY DSD primarily because of compromised testosterone production around the critical period for sex development. Further studies will provide useful information for the molecular network involved in fetal testosterone production. PMID:23044878

Ogata, Tsutomu; Sano, Shinichirou; Nagata, Eiko; Kato, Fumiko; Fukami, Maki

2012-10-01

55

Sex roles as social conventions: The development of children's conceptions of sex-role stereotypes  

Microsoft Academic Search

97 kindergartners and 2nd, 4th, 6th, and 8th graders were interviewed about their conceptions of 4 rule topics: sex-role stereotypes of toys, sex-role stereotypes of adult occupations, conventional table manners, and a natural law. Results indicate that Ss' knowledge of sex-role stereotypes and beliefs in the flexibility and cultural relativity of both sex-role stereotypes and a social convention significantly increased

D. Bruce Carter; Charlotte J. Patterson

1982-01-01

56

Sex, Glia, and Development: interactions in health and disease  

PubMed Central

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 be 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

Schwarz, Jaclyn M.; Bilbo, Staci D.

2012-01-01

57

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

ERIC Educational Resources Information Center

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…

Etaugh, Claire; Duits, Terri L.

58

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...

59

Abnormality as a Positive Characteristic: The Development and Validation of a Scale Measuring Need for Uniqueness  

ERIC Educational Resources Information Center

This research espouses the term "uniqueness" to circumvent the connotative qualities of abnormality and deviance, i.e., to convey a positive striving for being different relative to other people. The theoretical underpinning of the uniqueness motivation construct and the development and validation of a scale measuring desire for uniqueness are…

Snyder, C. R.; Fromkin, Howard L.

1977-01-01

60

Human placental development is impaired by abnormal hCG signaling in trisomy 21 pregnancies  

E-print Network

1 Human placental development is impaired by abnormal hCG signaling in trisomy 21 pregnancies in trisomy 21 pregnancies. Key words: LH/CG-receptor, trophoblast, Down syndrome, cell-cell fusion, maternal a fetus with trisomy 21, with defective syncytiotrophoblast (ST) formation and function. The ST arises

Boyer, Edmond

61

Gender differences in adolescents' identity development in the domain of sex role concepts  

Microsoft Academic Search

This study presents descriptive analysis of gender differences in the content of adolescents' responses on a measure of identity development in the domain of sex role concepts. Subjects included 66 white, middle-class, high school seniors. Responses on the sex roles section of the Ego Identity Interview were coded to reflect Block's (1973) theory of the stages of development of sex

Gail B. Werrbach; Harold D. Grotevant; Catherine R. Cooper

1990-01-01

62

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

PubMed

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

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

63

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

PubMed Central

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

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

64

The differential role of androgens in early human sex development  

PubMed Central

Sexual development in humans is only partly understood at the molecular level. It is dependent on genetic control primarily induced by the sex chromosomal differences between males and females. This leads to the development of the gonads, whereby afterwards the differentiation of the apparent phenotype is controlled by hormone action. Sex steroids may exert permanent and temporary effects. Their organizational features of inducing permanent changes in phenotype occur through genetic control of downstream genes. In this, androgens are the key elements for the differentiation of male internal and external genitalia as well as other sexual organs and general body composition, acting through a single androgen receptor. The androgen receptor is a nuclear transcription factor modulating DNA transcription of respective target genes and thereby driving development and growth in a stringent manner. The specificity of androgen action seems to be a strictly time-controlled process with the androgen receptor acting in concert with different metabolites and an array of cofactors modulating the cellular response and thereby permanently altering the phenotype of any given individual. For every cell programmed by androgens, a specific ‘androgen response index’ must be proposed. PMID:23800242

2013-01-01

65

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans  

Microsoft Academic Search

Male embryonic mice with mutations in the X-linked aristaless-related homeobox gene (Arx) developed with small brains due to suppressed proliferation and regional deficiencies in the forebrain. These mice also showed aberrant migration and differentiation of interneurons containing ?-aminobutyric acid (GABAergic interneurons) in the ganglionic eminence and neocortex as well as abnormal testicular differentiation. These characteristics recapitulate some of the clinical

Masako Yanazawa; Noriyuki Sugiyama; Hirohito Miura; Akiko Iizuka-Kogo; Masatomo Kusaka; Kayo Omichi; Rika Suzuki; Yuko Kato-Fukui; Kyoko Kamiirisa; Mina Matsuo; Shin-ichi Kamijo; Megumi Kasahara; Hidefumi Yoshioka; Tsutomu Ogata; Takayuki Fukuda; Ikuko Kondo; Mitsuhiro Kato; William B. Dobyns; Minesuke Yokoyama; Ken-ichirou Morohashi; Kunio Kitamura

2002-01-01

66

Cranial index of children with normal and abnormal brain development in Sokoto, Nigeria: A comparative study  

PubMed Central

Background: Abnormal brain development due to neurodevelopmental disorders in children has always been an important concern, but yet has to be considered as a significant public health problem, especially in the low- and middle-income countries including Nigeria. Aims: The aim of this study is to determine whether abnormal brain development in the form of neurodevelopmental disorders causes any deviation in the cranial index of affected children. Materials and Methods: This is a comparative study on the head length, head width, and cranial index of 112 children (72 males and 40 females) diagnosed with at least one abnormal problem in brain development, in the form of a neurodevelopmental disorder (NDD), in comparison with that of 218 normal growing children without any form of NDD (121 males and 97 females), aged 0-18 years old seen at the Usmanu Danfodiyo University Teaching Hospital, Sokoto, over a period of six months, June to December, 2012. The head length and head width of the children was measured using standard anatomical landmarks and cranial index calculated. The data obtained was entered into the Microsoft excel worksheet and analyzed using SPSS version 17. Results: The mean Cephalic Index for normal growing children with normal brain development was 79.82 ± 3.35 and that of the children with abnormal brain development was 77.78 ± 2.95 and the difference between the two groups was not statistically significant (P > 0.05). Conclusion: It can be deduced from this present study that the cranial index does not change in children with neurodevelopmental disorders. PMID:24966551

Musa, Muhammad Awwal; Zagga, Abdullahi Daudu; Danfulani, Mohammed; Tadros, Aziz Abdo; Ahmed, Hamid

2014-01-01

67

Measuring Sex Role Development: A Comparison of Two Methods.  

ERIC Educational Resources Information Center

Two basic problems are confronted in this research: (1) What is sex role differentiation?, and (2) How does one go about measuring it? Both questions revolve around construct validity and the adequacy of sex role measures. Most investigators have used dependent "objective-verbal" tests to measure sex role differentiation. These either involve…

Seegmiller, Bonni R.

68

mTOR signaling and its roles in normal and abnormal brain development  

PubMed Central

Target of rapamycin (TOR) was first identified in yeast as a target molecule of rapamycin, an anti-fugal and immunosuppressant macrolide compound. In mammals, its orthologue is called mammalian TOR (mTOR). mTOR is a serine/threonine kinase that converges different extracellular stimuli, such as nutrients and growth factors, and diverges into several biochemical reactions, including translation, autophagy, transcription, and lipid synthesis among others. These biochemical reactions govern cell growth and cause cells to attain an anabolic state. Thus, the disruption of mTOR signaling is implicated in a wide array of diseases such as cancer, diabetes, and obesity. In the central nervous system, the mTOR signaling cascade is activated by nutrients, neurotrophic factors, and neurotransmitters that enhances protein (and possibly lipid) synthesis and suppresses autophagy. These processes contribute to normal neuronal growth by promoting their differentiation, neurite elongation and branching, and synaptic formation during development. Therefore, disruption of mTOR signaling may cause neuronal degeneration and abnormal neural development. While reduced mTOR signaling is associated with neurodegeneration, excess activation of mTOR signaling causes abnormal development of neurons and glia, leading to brain malformation. In this review, we first introduce the current state of molecular knowledge of mTOR complexes and signaling in general. We then describe mTOR activation in neurons, which leads to translational enhancement, and finally discuss the link between mTOR and normal/abnormal neuronal growth during development. PMID:24795562

Takei, Nobuyuki; Nawa, Hiroyuki

2014-01-01

69

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...

70

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

ERIC Educational Resources Information Center

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…

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

2004-01-01

71

Minireview: Sex Differences in Adult and Developing Brains: Compensation, Compensation, Compensation  

E-print Network

Minireview: Sex Differences in Adult and Developing Brains: Compensation, Compensation, Massachusetts 01003 Despite decades of research, we do not know the functional significance of most sex differences in the brain. We are heavily invested in the idea that sex differences in brain struc- ture cause

de Vries, Geert J.

72

A study of same sex touching attitudes: Scale development and personality predictors  

Microsoft Academic Search

Attitudes toward same sex touching is an area of considerable importance to understanding sex?role rigidity and heterosexual intimacy, and are thought to be significant to sexual adjustment and well?being. A reliable and valid scale is needed for research on same sex touching. In this article, seven phases in the development of a Likert?type scale measuring attitudes toward same sex touching

Knud S. Larsen; Jeff LeRoux

1984-01-01

73

Sex Role Development as a Function of Parent Models and Oedipal Fixation  

Microsoft Academic Search

Sex role development is analyzed from the psychoanalytic and social learning perspectives. The process according to Freudian theory is seen as deriving from an internalization of characteristics of the same-sex parent, coupled with an effort to contrast oneself from the opposite-sex parent. These dynamics for sex-role differentiation are prominent mainly during the oedipal phase and are effected through the mechanism

Samuel Juni; Eileen Lazaroff Rahamim; Robert Brannon

1985-01-01

74

Abnormality as a positive characteristic: The development and validation of a scale measuring need for uniqueness  

Microsoft Academic Search

Defines need for uniqueness as a positive striving for abnormality relative to other people. Recent research regarding situational determinants of uniqueness motivation is described, and a dispositional individual-differences measure of need for uniqueness is presented. The development of the Uniqueness Scale aims at insuring construct validity as a guide for the item selection. The internal reliabilities, item-remainder coefficients, test–retest reliabilities,

C. R. Snyder; Howard L. Fromkin

1977-01-01

75

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

PubMed Central

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

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

2015-01-01

76

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

PubMed

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

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

2015-01-01

77

Development of Reproductive Anatomy I. Development of sex organs: overview  

E-print Network

by appropriate development of the ducts, glands and associated genitalia. In the absence of testis the epithelium and glands of the uterus. The fallopian tubes form from the unfused portions of Mullerian inhibitor, and therefore Congenital adrenal hyperplasia · The androgen from the adrenal causes

Dever, Jennifer A.

78

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

PubMed

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

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

2013-01-01

79

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

PubMed Central

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

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

2007-01-01

80

Anti-Müllerian hormone and androgens: regulation of receptors during sex differentiation and gonadal development  

Microsoft Academic Search

This chapter gives an outline of sex determination, sex differentiation, and gonadal\\u000adevelopment in mammalian species. In most studies described herein, rats and mice\\u000awere used.\\u000aDuring embryonal development in mammals, sex differentiation is preceded by a\\u000abipotential stage. Indifferent gonads are formed that can develop into eilher testes or\\u000aovaries. The anlagen of the male and female intemal genitalia,

W. M. Baarends

1995-01-01

81

A mechanical model predicts morphological abnormalities in the developing human brain  

PubMed Central

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

Budday, Silvia; Raybaud, Charles; Kuhl, Ellen

2014-01-01

82

A mechanical model predicts morphological abnormalities in the developing human brain  

NASA Astrophysics Data System (ADS)

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.

Budday, Silvia; Raybaud, Charles; Kuhl, Ellen

2014-07-01

83

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

Microsoft Academic Search

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 years). In annual home interviews, children rated their self-esteem, gender

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

2004-01-01

84

Sex chromosomes and their abnormalities  

E-print Network

of some X-linked diseases #12;X-linked mental retardation Estimated incidence of 1 in 500-1000 Mutations with mental retardation 20-40% excess males among persons with mental retardation Cytogenetic analysis Infertile May be slow learners, but rarely mentally retarded 1 Barr body 1/500 male births #12;Triplo

Dellaire, Graham

85

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

NASA Astrophysics Data System (ADS)

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.

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

86

Ectopic expression of FGF-3 results in abnormal prostate and Wolffian duct development.  

PubMed

To evaluate the effects of FGF-3 expression in the prostate and male reproductive tract, we employed a bitransgenic system to target FGF-3 to these organs. We present a first study that ectopic FGF-3 expression resulted in exuberant hyperplasia of all bigenic prostatic lobes typified by epithelial stratification, cribiform structures and papillary tufts. These cells displayed increased nuclear-to-cytoplasmic ratios and bromodeoxyuridine (BrdU) proliferative index but retained relatively uniform nuclear androgen receptor (AR) and the tumor suppressor C-CAM1 staining. Furthermore, the dysmorphogenic prostatic cells also resembled PIN (prostatic intraepithelial neoplasia)-like lesions but did not appear to have invaded the basal lamina. In addition to these phenotypes, profound disorders of the bigenic Wolffian duct derivatives were observed. The bigenic ampullary glands and vas deferens were extremely cystic, hypertrophic and hyperplastic; the enlarged epididymi showed a reduction of spermatozoa and the seminal vesicles exhibited a dramatic reduction of seminal secretions. Because of these severe abnormalities, these infertile males presented with diaphragmatic hernias, hemoperitoneum and many secondary abnormalities at sacrifice. Taken together, we show that ectopic FGF-3 expression severely perturbs normal prostate development and our system should be useful for the analyses of early changes in prostatic hyperplasia. PMID:11896623

Chua, Steven S; Ma, Zhi-Qing; Gong, Lei; Lin, Sue-Hwa; DeMayo, Francesco J; Tsai, Sophia Y

2002-03-14

87

Unbiased Identification of Patients with Disorders of Sex Development  

PubMed Central

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

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

2014-01-01

88

Development and evolution of insect polyphenisms: novel insights through the study of sex determination mechanisms  

E-print Network

-region and tissue-specific differentiation as a function of sex across insects. Recent work on Onthophagus hornedDevelopment and evolution of insect polyphenisms: novel insights through the study of sex juvenile hormone. Here we review recent finding that suggest additional and previously overlooked

Moczek, Armin P.

89

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

ERIC Educational Resources Information Center

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…

Scott, Brigitte C.

2013-01-01

90

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...

91

Sleep spindling and fluid intelligence across adolescent development: sex matters  

PubMed Central

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

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

2014-01-01

92

Islet ?-Cells Deficient in Bcl-xL Develop but Are Abnormally Sensitive to Apoptotic Stimuli  

PubMed Central

OBJECTIVE Bcl-xL is an antiapoptotic member of the Bcl-2 family of proteins and a potent regulator of cell death. We investigated the importance of Bcl-xL for ?-cells by deleting the Bcl-x gene specifically in ?-cells and analyzing their survival in vivo and in culture. RESEARCH DESIGN AND METHODS Islets with ?-cells lacking the Bcl-x gene were assessed in vivo by histology and by treatment of mice with low-dose streptozotocin (STZ). Islets were isolated by collagenase digestion and treated in culture with the apoptosis inducers staurosporine, thapsigargin, ?-irradiation, proinflammatory cytokines, or Fas ligand. Cell death was assessed by flow cytometric analysis of subgenomic DNA. RESULTS Bcl-xL–deficient ?-cells developed but were abnormally sensitive to apoptosis induced in vivo by low-dose STZ. Although a small proportion of ?-cells still expressed Bcl-xL, these did not have a survival advantage over their Bcl-xL–deficient neighbors. Islets appeared normal after collagenase isolation and whole-islet culture. They were, however, abnormally sensitive in culture to a number of different apoptotic stimuli including cytotoxic drugs, proinflammatory cytokines, and Fas ligand. CONCLUSIONS Bcl-xL expression in ?-cells is dispensible during islet development in the mouse. Bcl-xL is, however, an important regulator of ?-cell death under conditions of synchronous stress. Bcl-xL expression at physiological levels may partially protect ?-cells from apoptotic stimuli, including apoptosis because of mediators implicated in type 1 diabetes and death or degeneration of transplanted islets. PMID:19581414

Carrington, Emma M.; McKenzie, Mark D.; Jansen, Elisa; Myers, Michelle; Fynch, Stacey; Kos, Cameron; Strasser, Andreas; Kay, Thomas W.; Scott, Clare L.; Allison, Janette

2009-01-01

93

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

ERIC Educational Resources Information Center

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…

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

2009-01-01

94

Rice ORMDL Controls Sphingolipid Homeostasis Affecting Fertility Resulting from Abnormal Pollen Development  

PubMed Central

The orosomucoids (ORM) are ER-resisdent polypeptides encoded by ORM and ORMDL (ORM-like) genes. In humans, ORMDL3 was reported as genetic risk factor associated to asthma. In yeast, ORM proteins act as negative regulators of sphingolipid synthesis. Sphingolipids are important molecules regulating several processes including stress responses and apoptosis. However, the function of ORM/ORMDL genes in plants has not yet been reported. Previously, we found that temperature sensitive genetic male sterility (TGMS) rice lines controlled by tms2 contain a deletion of about 70 kb in chromosome 7. We identified four genes expressed in panicles, including an ORMDL ortholog, as candidates for tms2. In this report, we quantified expression of the only two candidate genes normally expressed in anthers of wild type plants grown in controlled growth rooms for fertile and sterile conditions. We found that only the ORMDL gene (LOC_Os07g26940) showed differential expression under these conditions. To better understand the function of rice ORMDL genes, we generated RNAi transgenic rice plants suppressing either LOC_Os07g26940, or all three ORMDL genes present in rice. We found that the RNAi transgenic plants with low expression of either LOC_Os07g26940 alone or all three ORMDL genes were sterile, having abnormal pollen morphology and staining. In addition, we found that both sphingolipid metabolism and expression of genes involved in sphingolipid synthesis were perturbed in the tms2 mutant, analogous to the role of ORMs in yeast. Our results indicated that plant ORMDL proteins influence sphingolipid homeostasis, and deletion of this gene affected fertility resulting from abnormal pollen development. PMID:25192280

Chueasiri, Chutharat; Chunthong, Ketsuwan; Pitnjam, Keasinee; Chakhonkaen, Sriprapai; Sangarwut, Numphet; Sangsawang, Kanidta; Suksangpanomrung, Malinee; Michaelson, Louise V.; Napier, Johnathan A.; Muangprom, Amorntip

2014-01-01

95

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

Microsoft Academic Search

Contrary to other genetic disorders, the genetic study of sex determination anomalies in humans stumbles over the difficulty\\u000a in observing large pedigrees. In goats, abnormalities in sex determination are intimately linked to a dominant Mendelian gene\\u000a coding for the “polled” (hornless) character, which could render this species an interesting animal model for the rare human\\u000a cases of SRY-negative XX males.

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

1996-01-01

96

Abnormal Development of Tapetum and Microspores Induced by Chemical Hybridization Agent SQ-1 in Wheat  

PubMed Central

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

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

2015-01-01

97

Tannic acid label indicates abnormal cell development coinciding with regeneration of renal tubules  

PubMed Central

Background Stem/progenitor cells are in the focus of research as a future therapeutic option to stimulate regeneration in diseased renal parenchyma. However, current data indicate that successful seeding of implanted stem/progenitor cells is prevented by harmful interstitial fluid and altered extracellular matrix. To find out possible parameters for cell adaptation, the present investigation was performed. Methods Renal stem/progenitor cells were mounted in an artificial interstitium for perfusion culture. Exposure to chemically defined but CO2-independent culture media was tested during 13 days. Cell biological features were then analyzed by histochemistry, while structural details were investigated by transmission electron microscopy after conventional and improved fixation of specimens. Results Culture of renal stem/progenitor cells as well in Leibovitz’s L-15 Medium as CO2 Independent Medium shows in fluorescence microscopy spatial development of numerous tubules. Specimens of both media fixed by conventional glutaraldehyde exhibit in electron microscopy a homogeneous cell population in developed tubules. In contrast, fixation by glutaraldehyde including tannic acid illuminates that dispersed dark marked cells of unknown function are present. The screening further demonstrates that the dark cell type does not comply with cells found in embryonic, maturing or matured renal parenchyma. Conclusions The actual data show that development of abnormal cell features must be taken into account, when regeneration of renal tubules is simulated under in vitro conditions. PMID:25071418

2014-01-01

98

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

ERIC Educational Resources Information Center

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.)

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

2009-01-01

99

Development of sex-trait stereotypes among young children in the United Staes, England, and Ireland.  

PubMed

The Sex Stereotype Measure II (SSM II), a 32-item revision of the Williams, Bennett, and Best Sex Stereotype Measure, was developed to assess children's knowledge of conventional, sex-trait stereotypes defined by American university students. The procedure employed brief stories and human figure silhouettes which were individually administered to 5- and 8-year-old children in the United States, England, and Ireland and group administered to 11-year-olds in the United States. In the United States, knowledge of sex-trait stereotypes was found to develop in a linear fashion between the ages of 5 and 11, with more male traits than female traits being known at each age level. Cross-nationally, there was a high degree of similarity in the nature of the sex stereotypes being learned by the children in the 3 countries, although the rate of learning appeared slower among the Irish children. In all countries there was a clear progression in sex-stereotype learning from age 5 to age 8. English boys had greater knowledge of stereotypes than English girls, but this was not true in Ireland and the United States. Generally, knowledge of male stereotype traits appeared to develop earlier while knowledge of the female traits increased more rapidly between ages 5 and 8. The similarity in sex-stereotype learning in the 3 countries is discussed, and studies in progress in other countries of greater cultural diversity are noted. PMID:608361

Best, D L; Williams, J E; Cloud, J M; Davis, S W; Robertson, L S; Edwards, J R; Giles, H; Fowles, J

1977-12-01

100

Deficiency of the chromatin regulator brpf1 causes abnormal brain development.  

PubMed

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

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

2015-03-13

101

Selected Results of a Cross-Sectional/Longitudinal Research on Sex-Role Development in German Children.  

ERIC Educational Resources Information Center

Following an outline of the theoretical approach and method of a study of components of sex role development among German children, results which concern ontogenetic changes in sex role stereotypes preferences are presented. In addition, interrelations of different components of sex role development and cognitive variables are analyzed. The…

Trautner, Hanns Martin

102

Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations.  

PubMed

In the past two decades, significant progress in neuroimaging and genetic techniques has allowed for advances in the correct definition/classification of congenital brain abnormalities, which have resulted in a better understanding of their pathogenesis. In addition, new groups of diseases, such as axonal guidance disorders or tubulinopathies, are increasingly reported. Well-defined neuroimaging diagnostic criteria have been suggested for the majority of congenital brain abnormalities. Accurate diagnoses of these complex abnormalities, including distinction between malformations and disruptions, are of paramount significance for management, prognosis, and family counseling. In the next decade, these advances will hopefully be translated into deeper understanding of these disorders and more specific treatments. PMID:25192502

Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

2014-07-01

103

Abnormal Sperm Development in pcd3J-/- Mice: the Importance of Agtpbp1 in Spermatogenesis  

PubMed Central

Homozygous Purkinje cell degeneration (pcd) mutant males exhibit abnormal sperm development. Microscopic examination of the testes from pcd3J-/- mice at postnatal days 12, 15, 18 and 60 revealed histological differences, in comparison to wild-type mice, which were evident by day 18. Greatly reduced numbers of spermatocytes and spermatids were found in the adult testes, and apoptotic cells were identified among the differentiating germ cells after day 15. Our immunohistological analysis using an antihuman AGTPBP1 antibody showed that AGTPBP1 was expressed in spermatogenic cells between late stage primary spermatocytes and round spermatids. A global gene expression analysis from the testes of pcd3J-/- mice showed that expression of cyclin B3 and de-ubiquitinating enzymes USP2 and USP9y was altered by >1.5-fold compared to the expression levels in the wild-type. Our results suggest that the pcd mutant mice have defects in spermatogenesis that begin with the pachytene spermatocyte stage and continue through subsequent stages. Thus, Agtpbp1, the gene responsible for the pcd phenotype, plays an important role in spermatogenesis and is important for survival of germ cells at spermatocytes stage onward. PMID:21110128

Kim, Nameun; Xiao, Rui; Choi, Hojun; Kim, Jin-Hoi; Sang-Jun, Uhm; Chankyu, Park

2011-01-01

104

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

PubMed

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

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

105

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

PubMed

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

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

106

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

Microsoft Academic Search

The late 1960s through the 1970s marked an important turning point in the field of gender research, including theory and research\\u000a 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\\u000a anniversary of Sex Roles and, in particular, its contributions

Kristina M. Zosuls; Cindy Faith Miller; Diane N. Ruble; Carol Lynn Martin; Richard A. Fabes

2011-01-01

107

Should Disorders of Sex Development be an Exclusion Criterion for Gender Identity Disorder in DSM 5?  

Microsoft Academic Search

The DSM-IV-TR category of Gender Identity Disorder (GID; American Psychiatric Association, 2000) is limited to persons with typical somatosexual development who experience “strong and persistent cross-gender identification” as well as a “persistent discomfort with his or her sex or sense of inappropriateness in the gender role of that sex.” The presence of a concurrent “physical intersex condition” rules out the

Hertha Richter-Appelt; David E. Sandberg

2010-01-01

108

Development of a sex-specific molecular marker for Japanese hop Humulus Japonicus Siebold & Zucc  

Microsoft Academic Search

Japanese hop (Humulus japonicus Siebold & Zucc.) is a dioecious plant and a suitable model for studying the XX\\/XY1Y2 system of sex chromosomes. To develop a sex-specific marker, 12 RAPD and 36 ISSR markers were analyzed on the basis of pools\\u000a of male and female plants identified after flowering. We were the first to identify ISSR marker K-16, which manifested

O. S. Aleksandrov; M. G. Divashuk; G. I. Karlov

2011-01-01

109

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

PubMed

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

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

2015-01-01

110

Constitutively activated NLRP3 inflammasome causes inflammation and abnormal skeletal development in mice.  

PubMed

The NLRP3 inflammasome complex is responsible for maturation of the pro-inflammatory cytokine, IL-1?. Mutations in NLRP3 are responsible for the cryopyrinopathies, a spectrum of conditions including neonatal-onset multisystem inflammatory disease (NOMID). While excessive production of IL-1? and systemic inflammation are common to all cryopyrinopathy disorders, skeletal abnormalities, prominently in the knees, and low bone mass are unique features of patients with NOMID. To gain insights into the mechanisms underlying skeletal abnormalities in NOMID, we generated knock-in mice globally expressing the D301N NLRP3 mutation (ortholog of D303N in human NLRP3). NOMID mice exhibit neutrophilia in blood and many tissues, including knee joints, and high levels of serum inflammatory mediators. They also exhibit growth retardation and severe postnatal osteopenia stemming at least in part from abnormally accelerated bone resorption, attended by increased osteoclastogenesis. Histologic analysis of knee joints revealed abnormal growth plates, with loss of chondrocytes and growth arrest in the central region of the epiphyses. Most strikingly, a tissue "spike" was observed in the mid-region of the growth plate in the long bones of all NOMID mice that may be the precursor to more severe deformations analogous to those observed in NOMID patients. These findings provide direct evidence linking a NOMID-associated NLRP3-activating mutation to abnormalities of postnatal skeletal growth and bone remodeling. PMID:22558291

Bonar, Sheri L; Brydges, Susannah D; Mueller, James L; McGeough, Matthew D; Pena, Carla; Chen, Debbie; Grimston, Susan K; Hickman-Brecks, Cynthia L; Ravindran, Soumya; McAlinden, Audrey; Novack, Deborah V; Kastner, Daniel L; Civitelli, Roberto; Hoffman, Hal M; Mbalaviele, Gabriel

2012-01-01

111

Abnormal development of placenta in HtrA1-deficient mice.  

PubMed

Abnormal levels of High temperature requirement A1 (HtrA1) protein have been repeatedly observed in sera and placentas of preeclampsia patients. To understand the functions of HtrA1 in placentation and in the etiology of preeclampsia, we established HtrA1(-/-) mice. HtrA1(-/-) mice show intrauterine growth retardation, and their placentas are small due to a reduced size of the junctional zone and aberrant vascularization in the labyrinth at the mid-gestation stage. HtrA1 is expressed by Tpbpa-positive trophoblast precursors in the outer ectoplacental cone and junctional zone from embryonic day 7.5 to 10.5. In the HtrA1(-/-) placenta, Tpbpa-positive cell precursors are decreased in the early stage. Spongiotrophoblasts and glycogen trophoblast cells, both of which differentiate from Tpbpa-positive precursors, are consequently decreased in the junctional zone. Fewer spiral artery-associated trophoblast giant cells, another cell type derived from Tpbpa-positive precursors, invade the decidua and associate with maternal arteries in the HtrA1(-/-) placenta than in the wild type placenta. Maternal arteries in the HtrA1(-/-) decidua have narrower lumens, thicker arterial walls, and more vascular smooth muscle cells remaining in the walls than those in the wild type decidua, indicating impaired remodeling of maternal arteries. These results indicate that HtrA1 plays important roles in the differentiation of trophoblasts from Tpbpa-positive precursors in the ectoplacental cone. Insufficient levels of HtrA1 cause poor placental development and intrauterine growth retardation, due to aberrant trophoblast differentiation and consequent defects in maternal artery remodeling, and may contribute to the onset of preeclampsia. PMID:25446274

Hasan, Md Zobaer; Ikawati, Muthi; Tocharus, Jiraporn; Kawaichi, Masashi; Oka, Chio

2015-01-01

112

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic  

PubMed Central

Sex development is a process under genetic control directing both the bi-potential gonads to become either a testis or an ovary, and the consequent differentiation of internal ducts and external genitalia. This complex series of events can be altered by a large number of genetic and non-genetic factors. Disorders of sex development (DSD) are all the medical conditions characterized by an atypical chromosomal, gonadal, or phenotypical sex. Incomplete knowledge of the genetic mechanisms involved in sex development results in a low probability of determining the molecular definition of the genetic defect in many of the patients. In this study, we describe the clinical, cytogenetic, and molecular study of 88 cases with DSD, including 29 patients with 46,XY and disorders in androgen synthesis or action, 18 with 46,XX and disorders in androgen excess, 17 with 46,XY and disorders of gonadal (testicular) development, 11 classified as 46,XX other, eight with 46,XX and disorders of gonadal (ovarian) development, and five with sex chromosome anomalies. In total, we found a genetic variant in 56 out of 88 of them, leading to the clinical classification of every patient, and we outline the different steps required for a coherent genetic testing approach. In conclusion, our results highlight the fact that each category of DSD is related to a large number of different DNA alterations, thus requiring multiple genetic studies to achieve a precise etiological diagnosis for each patient. PMID:25248670

Laino, Luigi; Majore, Silvia; Preziosi, Nicoletta; Grammatico, Barbara; De Bernardo, Carmelilia; Scommegna, Salvatore; Rapone, Anna Maria; Marrocco, Giacinto; Bottillo, Irene; Grammatico, Paola

2014-01-01

113

Fetal alcohol exposure leads to abnormal olfactory bulb development and impaired odor discrimination in adult mice  

Microsoft Academic Search

Background  Children whose mothers consumed alcohol during pregnancy exhibit widespread brain abnormalities and a complex array of behavioral\\u000a disturbances. Here, we used a mouse model of fetal alcohol exposure to investigate relationships between brain abnormalities\\u000a and specific behavioral alterations during adulthood.\\u000a \\u000a \\u000a \\u000a \\u000a Results  Mice drank a 10% ethanol solution throughout pregnancy. When fetal alcohol-exposed offspring reached adulthood, we used high\\u000a resolution MRI to

Katherine G Akers; Steven A Kushner; Ana T Leslie; Laura Clarke; Derek van der Kooy; Jason P Lerch; Paul W Frankland

2011-01-01

114

Abnormal development of cultured rat embryos in rat and human sera prepared after vitamin A ingestion  

Microsoft Academic Search

Summary Human and rat sera were assayed for teratogenic activity using a whole rat embryo culture technique. Sera prepared from blood withdrawn 1–5 h after the ingestion of vitamin A capsules caused developmental retardation and craniofacial abnormalities. Control sera permitted normal growth and differentiation.

C. E. Steele; J. D. Plenefisch; N. W. Klein

1982-01-01

115

Development and experimental validation of computational methods to simulate abnormal thermal and structural environments  

SciTech Connect

Over the past 40 years, Sandia National Laboratories (SNL) has been actively engaged in research to improve the ability to accurately predict the response of engineered systems to abnormal thermal and structural environments. These engineered systems contain very hazardous materials. Assessing the degree of safety/risk afforded the public and environment by these engineered systems, therefore, is of upmost importance. The ability to accurately predict the response of these systems to accidents (to abnormal environments) is required to assess the degree of safety. Before the effect of the abnormal environment on these systems can be determined, it is necessary to ascertain the nature of the environment. Ascertaining the nature of the environment, in turn, requires the ability to physically characterize and numerically simulate the abnormal environment. Historically, SNL has demonstrated the level of safety provided by these engineered systems by either of two approaches: (1) a purely regulatory approach, or (2) by a Probabilistic Risk Assessment (PRA). This paper will address the latter of the two approaches.

Moya, J.L.; Skocypec, R.D.; Thomas, R.K.

1993-10-01

116

Steroid receptor coactivator-1 (SRC-1) mediates the development of sex-specific brain morphology  

E-print Network

sensitive target organ for steroid hormones, which differentiate the neural substrate and thereby exertSteroid receptor coactivator-1 (SRC-1) mediates the development of sex-specific brain morphology March 1, 2000) Steroid hormone action during brain development exerts profound effects on reproductive

117

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

ERIC Educational Resources Information Center

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…

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

2011-01-01

118

Anal sex, vaginal practices, and HIV incidence in female sex workers in urban Kenya: implications for the development of intravaginal HIV prevention methods.  

PubMed

Multiple intravaginal HIV prevention methods, including microbicide gels, barriers, and intravaginal rings, are in clinical development in Africa. Development of intravaginal HIV prevention products requires an understanding of sexual behavior, sexually transmitted infection (STI), and vaginitis prevalences, and sexual and vaginal practices in potential target populations. We assessed these factors in a cohort of Kenyan female sex workers (FSW). Women who reported exchanging sex for money/gifts at least three times in the past month and who were HIV uninfected were enrolled and followed for 6 months. STI prevalence and HIV incidence were analyzed by multivariate logistic regression analysis, controlling for demographic and behavioral factors. Thirty-seven percent (74/200) reported having had anal sex. Frequency of anal sex was higher with regular and casual partners than with primary partners. Women were less likely to use condoms for anal sex than for vaginal sex with regular or casual partners. Vaginal washing was universal (100%). HIV incidence was 5.6 per 100 person-years (95% CI 1.62, 11.67). HIV incidence was not associated with any demographic or risk behavior. The relatively high rate of anal sex and universal vaginal washing may complicate both safety and efficacy evaluation of intravaginal products and should be taken into account in trial design. This FSW population had significant HIV incidence and needs continued HIV prevention interventions. PMID:21406032

Priddy, Frances H; Wakasiaka, Sabina; Hoang, Tina D; Smith, Donna J; Farah, Bashir; del Rio, Carlos; Ndinya-Achola, Jeckoniah

2011-10-01

119

Father rearing: its effects on sex-role and personality development  

E-print Network

FATNER RFARING: ITS EFFECTS O'I SEX-ROLE AND PERSONALITV DEVELOPMENT A Thesis by Peggy Love Clark Submitted to the Graduate College of Texas ARM University in partial fulfillment of the requirements for the degree of MASTER OF SCIENCE...) (t1eaber ) , ~ir5' (Iiea(! oi P, parboenb) Au(~oat lUG1 ABSTRACT Father Rearing: Its Effects on Personality and Sex-Role Development. (August 1981) Peggy Love Clark, B. S. , Texas A8? University Chairman of Advisory Committee: Dr. William S...

Clark, Peggy Love

1981-01-01

120

Sea Urchin Sex: Ideal Conditions for Fertilization and Development  

NSDL National Science Digital Library

This lesson is an inquiry based activity for high school students that allows for hands-on exploration of sea urchin development and the environmental parameters that best suit this process. The students will research the sea urchin, its habitat, and the ideal living and mating conditions for this organism. The lesson lends itself to the study of the effects of pollution on sea urchin development. Upon completion of this activity, students will be able to explain the ideal conditions for fertilization and development and the importnace of these conditions and compare and contrast sea urchin development and human development. Students should have some knowledge of cell structure and function, cell division, reproduction, and development. This teaching resource was developed by a K-12 science teacher in the American Physiological SocietyÂ?s 2007 Frontiers in Physiology Program. For more information on this program, please visit www.frontiersinphys.org.

Kathleen Caslow (Episcopal High School)

2007-08-01

121

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

PubMed Central

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

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

2014-01-01

122

Sex Differentiation and Early Gonadal Development in Brook Trout  

Microsoft Academic Search

Gonadal differentiation in brook trout Salvelinus fontinalis, as determined from samples collected weekly from 42 to 1,572 degree-days (°C) posthatch, occurs between 393 and 464 degree-days posthatch. During this interval, the gonad transforms from a structure containing several developing primordial germ cells into either a gonad with well-developed perinucleolar oocytes or a gonad with cavities that ultimately develop into sperm

Charles F. D. Sacobie; Tillmann J. Benfey

2005-01-01

123

Sex Differences in Attitudes Toward New Energy Resource Developments.  

ERIC Educational Resources Information Center

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…

Stout-Wiegand, Nancy; Trent, Roger B.

124

WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour  

Microsoft Academic Search

WILMS' tumour (WT), aniridia, genitourinary abnormalities and mental retardation form a symptom group (WAGR syndrome) associated with hemizygous deletions of DNA in chromosome band 11p13 (refs 1,2). However, it has not been clear whether hemizygosity at a single locus contributes to more than one phenotype. The tumour suppressor gene for Wilms' tumour, WT1, has been characterized3,4: it is expressed at

Jerry Pelletier; Wendy Bruening; Frederick P. Li; Daniel A. Haber; Tom Glaser; David E. Housman

1991-01-01

125

Presynaptic proteins in the prefrontal cortex of patients with schizophrenia and rats with abnormal prefrontal development  

Microsoft Academic Search

Dysfunction of the prefrontal cortex in schizophrenia may be associated with abnormalities in synaptic structure and\\/or function and reflected in altered concentrations of proteins in presynaptic terminals and involved in synaptic plasticity (synaptobrevin\\/ vesicle-associated membrane protein (VAMP), synaptosomal-associated protein-25 (SNAP-25), syntaxin, synaptophysin and growth-associated protein-43 (GAP-43)). We examined the immunoreactivity of these synapse-associated proteins via quantitative immunoblotting in the prefrontal

N D Halim; C S Weickert; B W McClintock; T M Hyde; D R Weinberger; J E Kleinman; B K Lipska

2003-01-01

126

Testosterone content of developing eggs and sex reversal in the medaka (Oryzias latipes).  

PubMed

To understand the effect of testosterone on sex differentiation, the quantities of testosterone (T) and estradiol-17beta (E2) in developing eggs of medaka (Oryzias latipes) were measured by radioimmunoassay, and the influence on sex differentiation of treating embryos with exogenous androgens was also examined. Endogenous T of eggs dispersed into the environmental water at spawning, and precipitously declined to a minimum level during incubation for 2 days post-fertilization (dpf). It did not significantly increase during development. The E2 content of fertilized eggs increased when eggs were incubated in medium containing exogenous T at the concentrations of 100 and 500 ng/ml, but not in low concentrations of 10 ng/ml or less. The presence of 500 ng/ml 17alpha-methyltestosterone (MT) in the incubation medium also induced an increase in the E2 content of embryos. Exposure of embryos to exogenous 1 ng/ml T that corresponded with the level of T in eggs shortly after fertilization was enough to induce sex reversal of genotypic females to functional males. The co-existence of T and aromatase inhibitor in incubation medium inhibited not only the T-induced increase in the embryonic E2 content, but also the estrogenic effect of T in causing the paradoxical sex reversal from genotypic males to phenotypic females. However, treatment of embryos with the non-aromatizable androgen, 17alpha-methyldihydrotestosterone, induced no detectable increase in the E2 content of embryos, but still brought about sex reversal of genotypic males into females. This contradictory result suggests that the conversion of androgens to E2 may not always be the cause for induction of paradoxical sex reversal by T treatment. Consequently, these results on sex reversal induced by treatment of embryos with exogenous androgens suggest that endogenous T of developing medaka embryos may not act as the natural andro-inducer, and that genotypic sex can be modified by exogenous sex steroids at early developmental stages long before gonadal differentiation in the medaka. PMID:16137690

Iwamatsu, Takashi; Kobayashi, Hirokuni; Sagegami, Reiko; Shuo, Takuya

2006-01-01

127

Human Behavioral Sex Differences: A Role for Gonadal Hormones During Early Development?  

Microsoft Academic Search

Evidence that gonadal hormones during prenatal and neonatal development influence behavior is reviewed. Several theoretical models of hormonal influences, derived from research in other species, are described. These models are evaluated on the basis of data from humans with either normal or abnormal hormonal exposure. It is concluded that the evidence is insufficient to determine which model best explains the

Marcia L. Collaer; Melissa Hines

1995-01-01

128

Tribolium castaneum Transformer-2 regulates sex determination and development in both males and females.  

PubMed

Tribolium castaneum Transformer (TcTra) is essential for female sex determination and maintenance through the regulation of sex-specific splicing of doublesex (dsx) pre-mRNA. In females, TcTra also regulates the sex-specific splicing of its own pre-mRNA to ensure continuous production of functional Tra protein. Transformer protein is absent in males and hence dsx pre-mRNA is spliced in a default mode. The mechanisms by which males inhibit the production of functional Tra protein are not known. Here, we report on functional characterization of transformer-2 (tra-2) gene (an ortholog of Drosophila transformer-2) in T. castaneum. RNA interference-mediated knockdown in the expression of gene coding for tra-2 in female pupae or adults resulted in the production of male-specific isoform of dsx and both female and male isoforms of tra suggesting that Tra-2 is essential for the female-specific splicing of tra and dsx pre-mRNAs. Interestingly, knockdown of tra-2 in males did not affect the splicing of dsx but resulted in the production of both female and male isoforms of tra suggesting that Tra-2 suppresses female-specific splicing of tra pre-mRNA in males. This dual regulation of sex-specific splicing of tra pre-mRNA ensures a tight regulation of sex determination and maintenance. These data suggest a critical role for Tra-2 in suppression of female sex determination cascade in males. In addition, RNAi studies showed that Tra-2 is also required for successful embryonic and larval development in both sexes. PMID:24056158

Shukla, Jayendra Nath; Palli, Subba Reddy

2013-12-01

129

Sex-Role Development and Father-Absence: Comparing Meta-Analyses.  

ERIC Educational Resources Information Center

This paper reports the results of meta-analysis of the literature addressing the effects of father-absence on both male and female sex-role development. Considering both published and unpublished papers, the analysis involved 33 studies of males and 16 studies of females which become available between 1958 and 1982 and which studied father-absence…

Stevenson, Michael R.; Black, Kathryn N.

130

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

ERIC Educational Resources Information Center

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…

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

2011-01-01

131

2011 ODU Game Development Summer Camp Registration Form Child's Name Date of Birth Sex  

E-print Network

2011 ODU Game Development Summer Camp Registration Form M F Child's Name Date of Birth Sex Parent is authorized to pick up your child at the end of the day? (Those picking up the child will be required to come into the VMASC building, with a valid I.D., to sign out the child.) The summer camp will provide lunch. However

132

Other-Sex Friendship Networks and the Development of Romantic Relationships in Adolescence  

Microsoft Academic Search

This longitudinal study examines 92 white middle-class participants' descriptions of their friendship networks from childhood to late adolescence, and their romantic relationships from middle to late adolescence. As expected, having larger other-sex friendship networks in early adolescence is related to the development of affiliative qualities in romantic relationships in middle adolescence and the maintenance of longer relationships in middle and

Candice Feiring

1999-01-01

133

The human sex ratio from conception to birth.  

PubMed

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

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

2015-04-21

134

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

PubMed

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

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

2009-01-01

135

The Internet, Sex, and Youths: Implications for Sexual Development  

Microsoft Academic Search

This article summarizes the research to date on youths' online sexual activities pertaining to socialization, education, and entertainment. It presents how these activities relate to the overall sexuality and mental health of adolescents and young adults, while situating the findings within a perspective of psychosocial and sexual development. It also provides information relevant to the prevention and treatment of problematic

SYLVAIN C. BOIES; GAIL KNUDSON; JULIAN YOUNG

2004-01-01

136

Examination of sex differences in a large sample of young children with autism spectrum disorder and typical development.  

PubMed

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 typical development. Sex differences in adaptive behavior and autism symptoms were also examined in children with ASD. Participants (n = 511) were recruited from the Florida State University FIRST WORDS(®) Project and University of Michigan Autism and Communication Disorders Center. Analyses did not reveal significant effects of sex or a diagnostic group by sex interaction, suggesting a similar phenotype in males and females early in development. Further research is needed to examine sex differences across development. PMID:25189824

Reinhardt, Vanessa P; Wetherby, Amy M; Schatschneider, Christopher; Lord, Catherine

2015-03-01

137

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

PubMed Central

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

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

2013-01-01

138

Survey of breeders’ management of horses in Europe, North America and Australia: Comparison of factors associated with the development of abnormal behaviour  

Microsoft Academic Search

An online survey of domestic horse breeders in the USA, UK, Australia, Canada and mainland Europe was carried out in order to examine management risk factors associated with the development of abnormal behaviour patterns. One hundred and forty breeders responded, and epidemiological results suggested that the overall number of horses showing abnormal behaviours may be declining (5.2% of the sample).

Matthew Parker; Deborah Goodwin; Edward S. Redhead

2008-01-01

139

Homeoproteins Six1 and Six4 regulate male sex determination and mouse gonadal development.  

PubMed

The Y-linked gene Sry regulates mammalian sex determination in bipotential embryonic gonads. Here, we report that the transcription factors Six1 and Six4 are required for male gonadal differentiation. Loss of Six1 and Six4 together, but neither alone, resulted in a male-to-female sex-reversal phenotype in XY mutant gonads accompanied by a failure in Sry activation. Decreased gonadal precursor cell formation at the onset of Sry expression and a gonadal size reduction in both sexes were also found in mutant embryos. Forced Sry transgene expression in XY mutant gonads rescued testicular development but not the initial disruption to precursor growth. Furthermore, we identified two downstream targets of Six1/Six4 in gonadal development, Fog2 (Zfpm2) and Nr5a1 (Ad4BP/Sf1). These two distinct Six1/Six4-regulated pathways are considered to be crucial for gonadal development. The regulation of Fog2 induces Sry expression in male sex determination, and the regulation of Nr5a1 in gonadal precursor formation determines gonadal size. PMID:23987514

Fujimoto, Yuka; Tanaka, Satomi S; Yamaguchi, Yasuka L; Kobayashi, Hiroki; Kuroki, Shunsuke; Tachibana, Makoto; Shinomura, Mai; Kanai, Yoshiakira; Morohashi, Ken-Ichirou; Kawakami, Kiyoshi; Nishinakamura, Ryuichi

2013-08-26

140

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

ERIC Educational Resources Information Center

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…

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

2013-01-01

141

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

ERIC Educational Resources Information Center

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…

Cok, Figen; Gray, Lizbeth Ann

2007-01-01

142

Disorders of sex development: clinically relevant genes involved in gonadal differentiation.  

PubMed

After the characterization of the sex-determining region of Y (SRY) in 1990, there have been an increasing number of genes recognized to play a role in sex development. The most common disorders of sex development (DSD) result from disruption of androgen levels and activity that affect later embryonal development, such as congenital adrenal hyperplasia and androgen insensitivity syndrome. However, genetic diagnosis of mutations affecting early gonadal development is becoming increasingly accessible to clinicians. More powerful genetic techniques are allowing for interrogation of the entire genome for causative changes and it is important to be able to critically assess the flood of genetic data for meaningful information. Recent discoveries have clarified the role of a variety of transcription factors in DSD such as SOX9, SF1, and WT1. Additionally, disruptions of signaling molecules such as hedgehog, WNT, cyclin-dependent kinase, and Ras/MAP kinase are now known to cause DSD. The dosage-dependence of genes involved in gonadal development is a recurrent theme, and genetic changes in promoter and repressor regions are being revealed by chromosomal microarray analysis and other techniques. In some cases, there are multiple different phenotypes caused by deletion, duplication, homozygous, heterozygous, and regulatory-region changes in the same gene. We aim to provide a concise and clinically-applicable overview of recent developments in the understanding of DSD caused by genetic changes affecting gonadal development. PMID:23200061

Larson, Austin; Nokoff, Natalie J; Travers, Sharon

2012-11-01

143

Feminizing Surgery for Disorders of Sex Development: Evolution, Complications, and Outcomes  

Microsoft Academic Search

Since the first part of the 20th century, when physicians and surgeons were struggling to understand disorders of sex development\\u000a (DSD) and the variety of associated anomalies they produced, there have been great strides in feminizing surgery for patients\\u000a with DSD. Surgical techniques were devised and concepts about how best to manage these complicated patients were developed.\\u000a In this article,

Richard S. Hurwitz

2011-01-01

144

Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development  

PubMed Central

Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and outcomes in affected patients. We created a novel DSD-genetic diagnostic tool, in which sex development genes are captured using RNA probes and undergo massively parallel sequencing. In the pilot group of 14 patients, we determined sex chromosome dosage, copy number variation, and gene mutations. In the patients with a known genetic diagnosis (obtained either on a clinical or research basis), this test identified the molecular cause in 100% (7/7) of patients. In patients in whom no molecular diagnosis had been made, this tool identified a genetic diagnosis in two of seven patients. Targeted sequencing of genes representing a specific spectrum of disorders can result in a higher rate of genetic diagnoses than current diagnostic approaches. Our DSD diagnostic tool provides for first time, in a single blood test, a comprehensive genetic diagnosis in patients presenting with a wide range of urogenital anomalies. PMID:22435390

Arboleda, VA; Lee, H; Sánchez, FJ; Délot, EC; Sandberg, DE; Grody, WW; Nelson, SF; Vilain, E

2013-01-01

145

Arsenic-induced alterations in embryonic transcription factor gene expression: implications for abnormal neural development.  

PubMed

We examined the morphological and molecular consequences of acute in utero exposure to teratogenic concentrations of arsenate. The treatment produced a dose-related increase in neural tube defects, along with a significant alteration in the pattern of gene expression for several transcription factors (creb, Hox 3.1, Pax3, and Emx-1) that were examined using in situ transcription and antisense RNA amplification procedures. On gestational day 9:0, there was a significant delay in the embryos progression through neural tube closure, accompanied by a significant downregulation of Hox 3.1 expression and a significant upregulation of Pax3, Emx-1, and creb. As both Hox 3.1 and Pax3 serve to regulate N-CAM expression, it is possible that abnormalities associated with N-CAM may compromise neural crest cell migration and normal neural tube closure. PMID:8754282

Wlodraczyk, B; Bennett, G D; Calvin, J A; Craig, J C; Finnell, R H

1996-01-01

146

Psychological Aspects of the Treatment of Patients with Disorders of Sex Development  

PubMed Central

Research on the psychological development of persons with Disorders of Sex Development (DSD) has focused on understanding the influence of atypical sex hormone exposure during steroid-sensitive periods of prenatal brain development on the process of psychosexual differentiation (i.e., gender identity, gender role, and sexual orientation). In contrast, analysis of clinical management strategies has focused on gender assignment and the desirability and timing of genital surgery. This review focuses on the psychological issues that confront clinicians managing the care of persons born with DSD and their families. Particular attention is paid to processes and factors that potentially mediate or moderate psychosocial and psychosexual outcomes within and across developmental stages. PMID:23044882

Sandberg, David E.; Gardner, Melissa; Cohen-Kettenis, Peggy T.

2013-01-01

147

Abnormal P-selectin localization during megakaryocyte development determines thrombosis in the gata1low model of myelofibrosis  

PubMed Central

Patients with primary myelofibrosis have increased risk for bleeding and thrombosis. It is debated whether propensity to thrombosis is due to increased numbers of platelet microparticles and/or to pathological platelet-neutrophil interactions. Platelet neutrophil interactions are mediated by P-selectin and even though the megakaryocytes of myelofibrosis patients express normal levels of P-selectin, it remains abnormally localized to the demarcation membrane system rather than being assembled into the ?-granules in platelets. Mice carrying the hypomorphic Gata1low mutation express the same megakaryocyte abnormalities presented by primary myelofibrosis patients, including abnormal P-selectin localization to the DMS and develop with age myelofibrosis, a disease that closely resembles human primary myelofibrosis. Whether these mice would also develop thrombosis has not been investigated as yet. The aim of this study was to determine whether Gata1low mice would develop thrombosis with age and, in this case, the role played by P-selectin in the development of the trait. To this aim, Gata1low mice were crossed with P-selnull mice according to standard genetic protocols and Gata1lowP-selwt, Gata1lowP-selnull and Gata1WTP-selnull or Gata1wtP-selwt (as controls) littermates obtained. It was shown that platelet counts, but not hematocrit, are reduced in Gata1low mice. Moreover, platelet microparticles are reduced in Gata1low mice and P-selectin positive platelet microparticles were not found. To determine the phenotypic implications of the different mutations, bleeding time was estimated by a tail cut procedure. Mutant mice were sacrificed and presence of thrombosis was determined by immunohistological staining of organs. Gata1low mice with or without the P-selectin null trait had a prolonged bleeding time compared to wild type mice. However, in Gata1low mice significantly higher frequency of thrombotic events was seen in adult and old Gata1low mice compared to Gata1lowP-selnull mice. Thus, presence of the P-selectin null trait rescued Gata1low mice from the thrombotic phenotype, but did not change the level of platelet microparticles. Taken together these data indicate that abnormal localization of P-selectin, induced by the Gata1low mutation, and thus, increased pathological interactions with leucocytes, is responsible for the increased presence of thrombosis seen in these mice. PMID:24176039

Zetterberg, Eva; Verrucci, Maria; Martelli, Fabrizio; Zingariello, Maria; Sancillo, Laura; D’Amore, Emanuela; Rana, Rosa Alba; Migliaccio, Anna Rita

2014-01-01

148

Nail abnormalities  

MedlinePLUS

Nail abnormalities are problems with the color, shape, texture, or thickness of the fingernails or toenails. ... Infection: Fungus or yeast cause changes in the color, texture, and shape of the nails. Bacterial infection may cause a ...

149

Chromosomal abnormalities  

Microsoft Academic Search

Cytogenetic studies from the peripheral blood of a patient with malignant lymphoma and rhematoid arthritis who was treated with intra-articular gold Au 198 revealed mosaicism with a normal female metaphase and a 43-chromosome metaphase. The abnormal cell line showed six missing normal chromosomes and three morphologically abnormal chromosomes. The trypsin-digested G-banding metaphases showed that the marker chromosomes were an isochromosome

K. Goh; R. F. Jacox; F. W. Anderson

1980-01-01

150

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

ERIC Educational Resources Information Center

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…

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

151

Does childhood meat eating contribute to sex differences in risk factors for ischaemic heart disease in a developing population?  

Microsoft Academic Search

BackgroundA male epidemic of ischaemic heart disease (IHD) emerges with economic development. It has previously been hypothesised that this epidemic is due to nutritionally driven levels of pubertal sex steroids, which lead to a more atherogenic body shape and lipid profile in boys but not girls, without any sex-specific effects on glucose metabolism. This study tests this hypothesis by examining

Michelle Heys; Chaoqiang Jiang; Kar Keung Cheng; WeiSen Zhang; Tai Hing Lam; Gabriel M Leung; C Mary Schooling

2010-01-01

152

DEVELOPMENT OF A PUPAL COLOR-BASED GENETIC SEXING STRAIN OF THE MELON FLY, BACTROCERA CUCURBITAE (DIPTERA: TEPHRITIDAE)  

Technology Transfer Automated Retrieval System (TEKTRAN)

The first genetic sexing system for the melon fly, Bactrocera cucurbitae (Coquillett) based on pupal color was developed. The recessive white pupae mutant, wh, was used in a putative chromosome translocation linking the wild type allele to the male sex. This system permits the separation of males (w...

153

Sex differences in biparental care as offspring develop: a field study of convict cichlids ( Amatitlania siquia )  

Microsoft Academic Search

Parental investment theory states that parents should contribute more to older offspring. Differences between the sexes also\\u000a influence how each parent contributes to offspring in biparental species. Here, we examined a naturally occurring population\\u000a of biparental convict cichlids in Costa Rica to determine how each parent cared for offspring during two distinct offspring\\u000a development stages. Consistent with the predictions of

Jennifer L. Snekser; Nicholas Santangelo; John Nyby; Murray Itzkowitz

2011-01-01

154

The sex killer  

Microsoft Academic Search

Thirteen sex killers were compared to 13 nonsex killers and 13 nonhomicidal sexually aggressive men on sexual history, substance abuse, history of violence, mental illness and personality, brain pathology and endocrine abnormalities. There were more similarities among the three groups than differences. Among the findings, the presence of transvestism and the early appearance of sadism differentiated the sex killers from

R. Langevin; M. H. Ben-Aron; P. Wright; V. Marchese; L. Handy

1988-01-01

155

Abnormal pressures as hydrodynamic phenomena  

USGS Publications Warehouse

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

Neuzil, C.E.

1995-01-01

156

Substance Abuse and Risky Sex in Young People: The Development and Validation of the Risky Sex Scale  

Microsoft Academic Search

Young people continue to be at considerable risk for HIV infection, and risky sexual practices that sometimes lead to infection are often precipitated by the abuse of alcohol. In the current study of three hundred and sixty one sexually active undergraduates cited their first time for university substance abuse violations, confirmatory factor analysis was employed to validate the Risky Sex

Thomas O'Hare

2001-01-01

157

Sex-specific development of spatial orientation is independent of peripubertal gonadal steroids.  

PubMed

Prenatal exposure to androgens has been shown to modulate brain development, resulting in changed behavioral attitudes, sexual orientation and cognitive functions, including processing of spatial information. Whether later changes in gonadotropic hormones during puberty induce further organizational effects within the brain is still insufficiently understood. The purpose of this study was to assess development of spatial orientation before and after the time of normal pubertal development, in an ovine model where half of the animals did not undergo typical reproductive maturation due to the pharmacological blockade of gonadotropin releasing hormone receptor (GnRHR) signaling. The study formed part of a larger trial and utilized 46 pairs of same sex Scottish Mule Texel Cross twins (22 female and 24 male). One twin remained untreated throughout (control) while the other received a subcutaneous GnRH agonist (GnRHa: Goserelin-Acetate) implant every fourth week. GnRHa treatment began at eight and 28 weeks of age, in males and females respectively, because the timing of the pubertal transition is sexually differentiated in sheep as it is in humans. Spatial orientation was assessed at three different time points: eight weeks of age, before puberty and treatment in both sexes; 28 weeks of age, after 20 weeks GnRHa treatment in males and before puberty and GnRHa treatment in females; and at 48 weeks of age, which is after the normal time of the pubertal transition in both sexes. Spatial orientation was tested in a spatial maze with traverse time as the main outcome measure. GnRHa treatment did not affect spatial maze performance as no significant differences in traverse time between treated and untreated animals were observed at any time-point. Adolescent females (48 weeks of age) traversed the maze significantly faster than adolescent males, whereas no sex differences in traverse time were seen at earlier developmental stages (eight and 28 weeks). Development of sex differences in spatial orientation was independent of exposure to pubertal hormones since puberty-blocked and control animals both showed the same pattern of spatial maze performance. This result demonstrates the prenatal nature of spatial orientation development. Furthermore, the unexpected finding that female animals outperformed males in the spatial orientation task, underscores the importance of the testing context in spatial orientation experiments. PMID:23477973

Wojniusz, Slawomir; Ropstad, Erik; Evans, Neil; Robinson, Jane; Solbakk, Anne-Kristin; Endestad, Tor; Haraldsen, Ira Ronit Hebold

2013-09-01

158

Sexually dimorphic white matter geometry abnormalities in adolescent onset schizophrenia.  

PubMed

The normal human brain is characterized by a pattern of gross anatomical asymmetry. This pattern, known as the "torque", is associated with a sexual dimorphism: The male brain tends to be more asymmetric than that of the female. This fact, along with well-known sex differences in brain development (faster in females) and onset of psychosis (earlier with worse outcome in males), has led to the theory that schizophrenia is a disorder in which sex-dependent abnormalities in the development of brain torque, the correlate of the capacity for language, cause alterations in interhemispheric connectivity, which are causally related to psychosis (Crow TJ, Paez P, Chance SE. 2007. Callosal misconnectivity and the sex difference in psychosis. Int Rev Psychiatry. 19(4):449-457.). To provide evidence toward this theory, we analyze the geometry of interhemispheric white matter connections in adolescent-onset schizophrenia, with a particular focus on sex, using a recently introduced framework for white matter geometry computation in diffusion tensor imaging data (Savadjiev P, Kindlmann GL, Bouix S, Shenton ME, Westin CF. 2010. Local white geometry from diffusion tensor gradients. Neuroimage. 49(4):3175-3186.). Our results reveal a pattern of sex-dependent white matter geometry abnormalities that conform to the predictions of Crow's torque theory and correlate with the severity of patients' symptoms. To the best of our knowledge, this is the first study to associate geometrical differences in white matter connectivity with torque in schizophrenia. PMID:23307635

Savadjiev, P; Whitford, T J; Hough, M E; Clemm von Hohenberg, C; Bouix, S; Westin, C-F; Shenton, M E; Crow, T J; James, A C; Kubicki, M

2014-05-01

159

Neuronal Nitric Oxide Synthase and Calbindin Delineate Sex Differences in the Developing Hypothalamus and Preoptic Area  

PubMed Central

Throughout the hypothalamus there are several regions known to contain sex differences in specific cellular, neurochemical, or cell grouping characteristics. The current study examined the potential origin of sex differences in calbindin expression in the preoptic area and hypothalamus as related to sources of nitric oxide. Specific cell populations were defined by immunoreactive (ir) calbindin and neuronal nitric oxide synthase (nNOS) in the preoptic area/anterior hypothalamus (POA/AH), anteroventral periventricular nucleus (AVPv), and ventromedial nucleus of the hypothalamus (VMN). The POA/AH of adult mice was characterized by a striking sex difference in the distribution of cells with ir-calbindin. Examination of the POA/AH of androgen receptor deficient Tfm mice suggests that this pattern was in part androgen receptor dependent, since Tfm males had reduced ir-calbindin compared with wild-type males and more similar to wild-type females. At P0 ir-calbindin was more prevalent than in adulthood, with males having significantly more ir-calbindin and nNOS than have females. Cells that contained either ir-calbindin or ir-nNOS in the POA/AH were in adjacent cell groups, suggesting that NO derived from the enzymatic activity of nNOS may influence the development of ir-calbindin cells. In the region of AVPv, at P0, there was a sex difference with males having more ir-nNOS fibers than have females while ir-calbindin was not detected. In the VMN, at P0, ir-nNOS was greater in females than in males, with no significant difference in ir-calbindin. We suggest that NO as an effector molecule and calbindin as a molecular biomarker illuminate key aspects of sexual differentiation in the developing mouse brain. PMID:17638388

Edelmann, Michelle; Wolfe, Cory; Scordalakes, Elka M.; Rissman, Emilie F.; Tobet, Stuart

2011-01-01

160

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

PubMed Central

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

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

2015-01-01

161

Chromosomal abnormalities  

SciTech Connect

Cytogenetic studies from the peripheral blood of a patient with malignant lymphoma and rhematoid arthritis who was treated with intra-articular gold Au 198 revealed mosaicism with a normal female metaphase and a 43-chromosome metaphase. The abnormal cell line showed six missing normal chromosomes and three morphologically abnormal chromosomes. The trypsin-digested G-banding metaphases showed that the marker chromosomes were an isochromosome of the long arm of chromosome 17, a translocated chromosome that involved the long arm of chromosome 4 and a chromosome 16, and a translocated chromosome that involved the long arm of chromosome 4 and a chromosome 5. It is tempting to conclude that these abnormalities were due to the gold Au 198 treatment, but we cannot exclude other possibilities.

Goh, K.; Jacox, R.F.; Anderson, F.W.

1980-09-01

162

Organizational and activational effects of sex steroids on kisspeptin neuron development  

PubMed Central

Kisspeptin, encoded by the Kiss1 gene, is a neuropeptide required for puberty and adult reproductive function. Understanding the regulation and development of the kisspeptin system provides valuable knowledge about the physiology of puberty and adult fertility, and may provide insights into human pubertal or reproductive disorders. Recent studies, particularly in rodent models, have assessed how kisspeptin neurons develop and how hormonal and non-hormonal factors regulate this developmental process. Exposure to sex steroids (testosterone and estradiol) during critical periods of development can induce organizational (permanent) effects on kisspeptin neuron development, with respect to both sexually dimorphic and non-sexually dimorphic aspects of kisspeptin biology. In addition, sex steroids can also impart activational (temporary) effects on kisspeptin neurons and Kiss1 gene expression at various times during neonatal and peripubertal development, as they do in adulthood. Here, we discuss the current knowledge—and in some cases, lack thereof—of the influence of hormones and other factors on kisspeptin neuronal development. PMID:22728025

Poling, Matthew C.; Kauffman, Alexander S.

2012-01-01

163

Yolk-albumen testosterone in a lizard with temperature-dependent sex determination: Relation with development  

E-print Network

hormones in the yolk might influence sex determination and sex- ual differentiation. From captive leopard, 1987; Bull et al., 1988). The influence of exogenous steroid hormones on gonadal sex has been studiedYolk-albumen testosterone in a lizard with temperature-dependent sex determination: Relation

Crews, David

164

Abnormal Cortical Development after Premature Birth Shown by Altered Allometric Scaling of Brain Growth  

Microsoft Academic Search

BackgroundWe postulated that during ontogenesis cortical surface area and cerebral volume are related by a scaling law whose exponent gives a quantitative measure of cortical development. We used this approach to investigate the hypothesis that premature termination of the intrauterine environment by preterm birth reduces cortical development in a dose-dependent manner, providing a neural substrate for functional impairment.Methods and FindingsWe

Olga Kapellou; Serena J. Counsell; Nigel Kennea; Leigh Dyet; Nadeem Saeed; Jaroslav Stark; Elia Maalouf; Philip Duggan; Morenike Ajayi-Obe; Jo Hajnal; Joanna M. Allsop; James Boardman; Mary A. Rutherford; Frances Cowan; A. David Edwards

2006-01-01

165

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

USGS Publications Warehouse

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.

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

1999-01-01

166

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

USGS Publications Warehouse

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.

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

1999-01-01

167

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

PubMed

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

Mohamed, Mohd Salim; Noor, Siti Nurani Mohd

2015-04-01

168

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

PubMed Central

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

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

2014-01-01

169

Fluctuating water temperatures affect development, physiological responses and cause sex reversal in fathead minnows.  

PubMed

Natural and human activities can result in both high temporal and spatial variability in water temperature. Rapid temperature changes have the potential to dramatically affect physiological processes in aquatic organisms and, due to their limited mobility, fish early life stages are particularly vulnerable to ambient temperature fluctuations. In this study, we examined how the magnitude and frequency of temperature fluctuations affect survival, growth, development, expression of thermoresponsive genes, and gonadal differentiation in fathead minnows, Pimephales promelas. We exposed individuals (0 to 4 days post fertilization) of known genotypic sex to fluctuations of ?4 °C over 12-h, ?8 °C over 12- and 24-h, and three stable temperatures (21, 25, and 29 °C) for up to 45 d. Expression of hsp70 in fish exposed to the highest-magnitude, highest-frequency fluctuating treatment cycled in concert with temperature and was upregulated initially during exposure, and may have contributed to temperature fluctuations having little effect on time to and size at hatching (whole-organism responses). This treatment also caused fish to undergo nondirectional sex reversal. These results indicate that hsp70 may be involved in mediating thermal stress from subdaily temperature fluctuations and that sex determination in fathead minnows can be influenced by cycling temperatures. PMID:25587805

Coulter, David P; Höök, Tomas O; Mahapatra, Cecon T; Guffey, Samuel C; Sepúlveda, Maria S

2015-02-01

170

Sex specific retinoic acid signaling is required for the initiation of urogenital sinus bud development.  

PubMed

The mammalian urogenital sinus (UGS) develops in a sex specific manner, giving rise to the prostate in the male and the sinus vagina in the embryonic female. Androgens, produced by the embryonic testis, have been shown to be crucial to this process. In this study we show that retinoic acid signaling is required for the initial stages of bud development from the male UGS. Enzymes involved in retinoic acid synthesis are expressed in the UGS mesenchyme in a sex specific manner and addition of ligand to female tissue is able to induce prostate-like bud formation in the absence of androgens, albeit at reduced potency. Functional studies in mouse organ cultures that faithfully reproduce the initiation of prostate development indicate that one of the roles of retinoic acid signaling in the male is to inhibit the expression of Inhba, which encodes the ?A subunit of Activin, in the UGS mesenchyme. Through in vivo genetic analysis and culture studies we show that inhibition of Activin signaling in the female UGS leads to a similar phenotype to that of retinoic acid treatment, namely bud formation in the absence of androgens. Our data also reveals that both androgens and retinoic acid have extra independent roles to that of repressing Activin signaling in the development of the prostate during fetal stages. This study identifies a novel role for retinoic acid as a mesenchymal factor that acts together with androgens to determine the position and initiation of bud development in the male UGS epithelia. PMID:25261715

Bryant, Sarah L; Francis, Jeffrey C; Lokody, Isabel B; Wang, Hong; Risbridger, Gail P; Loveland, Kate L; Swain, Amanda

2014-11-15

171

Sex specific retinoic acid signaling is required for the initiation of urogenital sinus bud development  

PubMed Central

The mammalian urogenital sinus (UGS) develops in a sex specific manner, giving rise to the prostate in the male and the sinus vagina in the embryonic female. Androgens, produced by the embryonic testis, have been shown to be crucial to this process. In this study we show that retinoic acid signaling is required for the initial stages of bud development from the male UGS. Enzymes involved in retinoic acid synthesis are expressed in the UGS mesenchyme in a sex specific manner and addition of ligand to female tissue is able to induce prostate-like bud formation in the absence of androgens, albeit at reduced potency. Functional studies in mouse organ cultures that faithfully reproduce the initiation of prostate development indicate that one of the roles of retinoic acid signaling in the male is to inhibit the expression of Inhba, which encodes the ?A subunit of Activin, in the UGS mesenchyme. Through in vivo genetic analysis and culture studies we show that inhibition of Activin signaling in the female UGS leads to a similar phenotype to that of retinoic acid treatment, namely bud formation in the absence of androgens. Our data also reveals that both androgens and retinoic acid have extra independent roles to that of repressing Activin signaling in the development of the prostate during fetal stages. This study identifies a novel role for retinoic acid as a mesenchymal factor that acts together with androgens to determine the position and initiation of bud development in the male UGS epithelia. PMID:25261715

Bryant, Sarah L.; Francis, Jeffrey C.; Lokody, Isabel B.; Wang, Hong; Risbridger, Gail P.; Loveland, Kate L.; Swain, Amanda

2014-01-01

172

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

PubMed

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 (?22.1 mm Hg males versus ?18 mm : Hg females). After adoptive transfer of male T cells, Ang II significantly increased systolic blood pressure in males (?37.7 mm : Hg; P<0.05) when compared with females (?13.7 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

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

2014-08-01

173

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

Microsoft Academic Search

Background  Genetic and environmental risk factors and gene-environment interactions are linked to higher likelihood of developing schizophrenia\\u000a in accordance with the neurodevelopmental model of disease; little is known about risk factors and early development in early-onset\\u000a schizophrenia (EOS) and very early-onset schizophrenia (VEOS).\\u000a \\u000a \\u000a \\u000a \\u000a Methods  We present a case-control study of a sample of 21 patients with EOS\\/VEOS and a control group of

Francesco Margari; Maria G Petruzzelli; Paola A Lecce; Orlando Todarello; Andrea De Giacomo; Elisabetta Lucarelli; Domenico Martinelli; Lucia Margari

2011-01-01

174

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

PubMed Central

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

Vértes, Petra E; Bullmore, Edward T

2015-01-01

175

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

PubMed

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

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

2015-01-01

176

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

PubMed

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

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

2014-11-01

177

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

PubMed Central

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

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

2015-01-01

178

Abnormal Development of Peripheral Lymphoid Organs in Mice Deficient in Lymphotoxin  

Microsoft Academic Search

Mice rendered deficient in lymphotoxin (LT) by gene targeting in embryonic stem cells have no morphologically detectable lymph nodes or Peyer's patches, although development of the thymus appears normal. Within the white pulp of the spleen, there is failure of normal segregation of B and T cells. Spleen and peripheral blood contain CD4^+CD8^- and CD4^-CD8^+ T cells in a normal

Pietro de Togni; Joseph Goellner; Nancy H. Ruddle; Philip R. Streeter; Andrea Fick; Sanjeev Mariathasan; Stacy C. Smith; Rebecca Carlson; Laurie P. Shornick; Jena Strauss-Schoenberger; John H. Russell; Robert Karr; David D. Chaplin

1994-01-01

179

Abnormal development of the hippocampal dentate gyrus in mice lacking the CXCR4 chemokine receptor  

Microsoft Academic Search

We investigated the role of the CXCR4 chemokine receptor in development of the mouse hippocampus. CXCR4 mRNA is expressed at sites of neuronal and progenitor cell migration in the hippocampus at late embryonic and early postnatal ages. mRNA for stromal cell-derived factor 1 (SDF-1), the only known ligand for the CXCR4 receptor, is expressed close to these migration sites, in

Meiling Lu; Elizabeth A. Grove; Richard J. Miller

2002-01-01

180

Abnormal development of pacinian corpuscles in double trkB;trkC knockout mice  

Microsoft Academic Search

Pacinian corpuscles depend on either A? or A? nerve fibers of the large- and intermediate-sized sensory neurons for the development and maintenance of the structural integrity. These neurons express TrkB and TrkC, two members of the family of signal transducing neurotrophin receptors, and mice lacking TrkB and TrkC lost specific neurons and the sensory corpuscles connected to them. The impact

F. de Carlos; J. Cobo; G. Germanà; I. Silos-Santiago; R. Laurà; J. J. Haro; I. Fariñas; J. A. Vega

2006-01-01

181

Abnormal development of the diaphragm in mdx:MyoD-/-(9th) embryos leads to pulmonary hypoplasia.  

PubMed

In vitro studies have shown that mechanical factors play an important role in cell cycle kinetics and cell differentiation of the lung through an unknown mechanochemical signal transduction pathway. In this study we evaluated the in vivo role of mechanical factors due to fetal breathing movements (primarily executed by the diaphragm, which is the main respiratory muscle) on lung growth and development by using genetically engineered embryos. Lung growth and development of wild-type, mdx:MyoD+/-(9th) (in which the diaphragm develops normally) and mdx:MyoD-/-(9th) (in which the diaphragm muscle is significantly thinned and not functional) embryos were compared at embryonic day 18.5 using immunohistochemistry, in vivo TUNEL detection and morphometry. No abnormalities in lung organogenesis were observed in mdx:MyoD+/-(9th) term embryos, whereas lung hypoplasia was detected in mdx:MyoD-/-(9th) embryos. In the hypoplastic lung, the number of proliferating lung cells was lower in comparison to the wild-type and mdx:MyoD+/-(9th) embryos, while the gradient of thyroid transcription factor-1 (TTF-1) was not maintained. Surprisingly, no difference was observed in distribution and occurrence of apoptotic lung cells in mdx:MyoD-/-(9th) embryos. Together, it appears that mechanical forces generated by contractile activity of the diaphragm muscle play an important role in normal lung growth and development by affecting cell proliferation and TTF-1 expression. PMID:12895031

Inanlou, Mohammad-Reza; Kablar, Boris

2003-06-01

182

Two Cases of Late-Diagnosed Ovotesticular Disorder of Sex Development  

PubMed Central

Ovotesticular disorder of sex development (ovotesticular DSD) is defined as the presence of testicular and ovarian tissue in the same individual. Both external and internal genitalia of patients with ovotesticular DSD display a spectrum of phenotypes. Most children present with ambiguous genitalia in combination with unilateral or bilateral undescended gonads. We experienced two late-diagnosed children who presented with proximal hypospadias and bilateral scrotal gonads. One should consider the possibility of ovotesticular DSD when managing patients with proximal hypospadias even if both gonads are palpable in the scrotum. PMID:24381836

Nakagawa, Yoshikiyo; Sugita, Yoshifumi

2013-01-01

183

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

PubMed Central

Id2 is a helix-loop-helix (HLH) 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 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 over-expressing 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 over-expression 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

Park, H.J.; Hong, M.; Bronson, R.T.; Israel, M.A.; Frankel, W. N.; Yun, K.

2013-01-01

184

Abnormal development of pacinian corpuscles in double trkB;trkC knockout mice.  

PubMed

Pacinian corpuscles depend on either Aalpha or Abeta nerve fibers of the large- and intermediate-sized sensory neurons for the development and maintenance of the structural integrity. These neurons express TrkB and TrkC, two members of the family of signal transducing neurotrophin receptors, and mice lacking TrkB and TrkC lost specific neurons and the sensory corpuscles connected to them. The impact of single or double targeted mutations in trkB and trkC genes in the development of Pacinian corpuscles was investigated in 25-day-old mice using immunohistochemistry and ultrastructural techniques. Single mutations on trkB or trkC genes were without effect on the structure and S100 protein expression, and caused a slight reduction in the number of corpuscles. In mice carrying a double mutation on trkB;trkC genes most of the corpuscles were normal with a reduction of 17% in trkB-/-;trkC+/- mice, and 8% in trkB +/-;trkC -/- mice. Furthermore, a subset of the remaining Pacinian corpuscles (23% in trkB-/-;trkC+/- mice; 3% in trkB+/-;trkC-/- mice) were hypoplasic or atrophic. Present results strongly suggest that the development of a subset of murine Pacinian corpuscles is regulated by the Trk-neurotrophin system, especially TrkB, acting both at neuronal and/or peripheral level. The precise function of each member of this complex in the corpuscular morphogenesis remains to be elucidated, though. PMID:17101216

de Carlos, F; Cobo, J; Germanà, G; Silos-Santiago, I; Laurà, R; Haro, J J; Fariñas, I; Vega, J A

2006-12-27

185

Sex-related differences in maximal rate of isometric torque development.  

PubMed

Sex-differences in the maximum rate of torque development (d?/dt(max)) may be due to differences in maximum muscle strength, because higher torque values mathematically lead to higher values for the rate of change in torque. The rate of change in the isometric torque-time curve is often normalized to the isometric maximum voluntary contraction (MVC) to evaluate males and females on a relative scale. Normalization eliminates sex-differences in d?/dt(max) in the lower limbs because males and females are more comparable (i.e., differences between the sexes are relatively small) with respect to both muscle size and strength. However, normalization fails to result in parody in d?/dt(max) of the upper limb, leading to the idea that other factors may be involved. This study determined if sex-differences in d?/dt(max) in the upper limb can be attributed to differences in isometric MVC and/or a neural variable related to rate of increase in muscle activation (Q(30)). Forty-six participants (23 males, 23 females) performed maximal isometric elbow flexion contractions, "as hard and as fast as possible". Maximum torque (?(max)), d?/dt(max), and the rate of increase in surface electromyographic (sEMG) activity (Q(30)) were assessed. Muscle plus bone cross-sectional area (M+B CSA) of the upper arm was calculated to estimate differences in muscle size, only for comparative purposes. Maximum strength (55.5%) and muscle size (41.9%) of the elbow flexors in males were much greater than that of females (p < 0.05). There was a large difference (61.2%) between males and females with respect to d?/dt(max) that was reduced by statistical correction using an analysis of covariance (ANCOVA). The percent differences were reduced to 36.7% (p < 0.05) for ?(max) and 54.4% (p < 0.05) for Q30, but was nearly eliminated to 13.8% (p > 0.05) when both variables were used simultaneously as covariates. Since sex-differences in the upper limb d?/dt(max) persist, additional neural or biomechanical factors may be involved. PMID:24148962

Inglis, J Greig; Vandenboom, Rene; Gabriel, David A

2013-12-01

186

Functional validation of GWAS gene candidates for abnormal liver function during zebrafish liver development  

PubMed Central

SUMMARY Genome-wide association studies (GWAS) have revealed numerous associations between many phenotypes and gene candidates. Frequently, however, further elucidation of gene function has not been achieved. A recent GWAS identified 69 candidate genes associated with elevated liver enzyme concentrations, which are clinical markers of liver disease. To investigate the role of these genes in liver homeostasis, we narrowed down this list to 12 genes based on zebrafish orthology, zebrafish liver expression and disease correlation. To assess the function of gene candidates during liver development, we assayed hepatic progenitors at 48 hours post fertilization (hpf) and hepatocytes at 72 hpf using in situ hybridization following morpholino knockdown in zebrafish embryos. Knockdown of three genes (pnpla3, pklr and mapk10) decreased expression of hepatic progenitor cells, whereas knockdown of eight genes (pnpla3, cpn1, trib1, fads2, slc2a2, pklr, mapk10 and samm50) decreased cell-specific hepatocyte expression. We then induced liver injury in zebrafish embryos using acetaminophen exposure and observed changes in liver toxicity incidence in morphants. Prioritization of GWAS candidates and morpholino knockdown expedites the study of newly identified genes impacting liver development and represents a feasible method for initial assessment of candidate genes to instruct further mechanistic analyses. Our analysis can be extended to GWAS for additional disease-associated phenotypes. PMID:23813869

Liu, Leah Y.; Fox, Caroline S.; North, Trista E.; Goessling, Wolfram

2013-01-01

187

Functional validation of GWAS gene candidates for abnormal liver function during zebrafish liver development.  

PubMed

Genome-wide association studies (GWAS) have revealed numerous associations between many phenotypes and gene candidates. Frequently, however, further elucidation of gene function has not been achieved. A recent GWAS identified 69 candidate genes associated with elevated liver enzyme concentrations, which are clinical markers of liver disease. To investigate the role of these genes in liver homeostasis, we narrowed down this list to 12 genes based on zebrafish orthology, zebrafish liver expression and disease correlation. To assess the function of gene candidates during liver development, we assayed hepatic progenitors at 48 hours post fertilization (hpf) and hepatocytes at 72 hpf using in situ hybridization following morpholino knockdown in zebrafish embryos. Knockdown of three genes (pnpla3, pklr and mapk10) decreased expression of hepatic progenitor cells, whereas knockdown of eight genes (pnpla3, cpn1, trib1, fads2, slc2a2, pklr, mapk10 and samm50) decreased cell-specific hepatocyte expression. We then induced liver injury in zebrafish embryos using acetaminophen exposure and observed changes in liver toxicity incidence in morphants. Prioritization of GWAS candidates and morpholino knockdown expedites the study of newly identified genes impacting liver development and represents a feasible method for initial assessment of candidate genes to instruct further mechanistic analyses. Our analysis can be extended to GWAS for additional disease-associated phenotypes. PMID:23813869

Liu, Leah Y; Fox, Caroline S; North, Trista E; Goessling, Wolfram

2013-09-01

188

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

PubMed Central

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

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

189

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

PubMed

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

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

2011-12-01

190

R6/2 Huntington’s disease Mice Develop Early and Progressive Abnormal Brain Metabolism and Seizures  

PubMed Central

A hallmark feature of Huntington's disease pathology is the atrophy of brain regions including, but not limited to, the striatum. Though MRI studies have identified structural CNS changes in several HD mouse models, the functional consequences of HD pathology during the progression of the disease have yet to be investigated using in vivo functional magnetic resonance imaging (fMRI). To address this issue, we first established the structural and functional MRI phenotype of juvenile HD mouse model R6/2 at early and advanced stages of disease. Significantly higher fMRI-signals (relative cerebral blood volumes-rCBV) and atrophy were observed in both age groups in specific brain regions. Next, fMRI results were correlated with electrophysiological analysis, which showed abnormal increases in neuronal activity in affected brain regions- thus identifying a mechanism accounting for the abnormal fMRI findings. [14C] deoxyglucose (2DG) maps to investigate patterns of glucose utilization were also generated. An interesting mismatch between increases in rCBV and decreases in glucose uptake was observed. Finally, we evaluated the sensitivity of this mouse line to audiogenic seizures early in the disease course. We found that R6/2 mice had an increased susceptibility to develop seizures. Together, these findings identified seizure activity in R6/2 mice, and show that neuroimaging measures sensitive to oxygen metabolism can be used as in vivo biomarkers, preceding the onset of an overt behavioral phenotype. Since fMRI-rCBV can also be obtained in patients, we propose that it may serve as a translational tool to evaluate therapeutic responses in humans and HD mouse models. PMID:22573668

Cepeda-Prado, E; Popp, S; Khan, U; Stefanov, D; Rodriguez, J; Menalled, L; Dow-Edwards, D; Small, SA; Moreno, H

2012-01-01

191

Sex differences in white matter development during adolescence: A DTI study  

PubMed Central

Adolescence is a complex transitional period in human development, composing physical maturation, cognitive and social behavioral changes. The objective of this study is to investigate sex differences in white matter development and the associations between intelligence and white matter microstructure in the adolescent brain using diffusion tensor imaging (DTI) and tract-based spatial statistics (TBSS). In a cohort of 16 typically-developing adolescents aged 13 to 17 years, longitudinal DTI data were recorded from each subject at two time points that were one year apart. We used TBSS to analyze the diffusion indices including fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD). Our results suggest that boys (13–18 years) continued to demonstrate white matter maturation, whereas girls appeared to reach mature levels earlier. In addition, we identified significant positive correlations between FA and full-scale intelligence quotient (IQ) in the right inferior fronto-occipital fasciculus when both sexes were looked at together. Only girls showed significant positive correlations between FA and verbal IQ in the left cortico-spinal tract and superior longitudinal fasciculus. The preliminary evidence presented in this study supports that boys and girls have different developmental trajectories in white matter microstructure. PMID:22954903

Wang, Yingying; Adamson, Chris; Yuan, Weihong; Altaye, Mekibib; Rajagopal, Akila; Byars, Anna W.; Holland, Scott K.

2012-01-01

192

Genome-Wide Identification of CBX2 Targets: Insights in the Human Sex Development Network.  

PubMed

Chromobox homolog 2 (CBX2) is a chromatin modifier that plays an important role in sexual development and its disorders (disorders of sex development [DSD]), yet the exact rank and function of human CBX2 in this pathway remains unclear. Here, we performed large-scale mapping and analysis of in vivo target loci of the protein CBX2 in Sertoli-like NT-2D1 cells, using the DNA adenine methyltransferase identification technique. We identified close to 1600 direct targets for CBX2. Intriguingly, validation of selected candidate genes using qRT-PCR in cells overexpressing CBX2 or in which CBX2 has been knocked down indicated that several CBX2-responsive genes encode proteins that are involved in DSD. We further validated these effects on the candidate genes using a mutated CBX2 causing DSD in human patient. Overall, our findings suggest that CBX2 role in the sex development cascade is to stimulate the male pathway and concurrently inhibit the female pathway. These data provide fundamental insights into potential etiology of DSD. PMID:25569159

Eid, Wassim; Opitz, Lennart; Biason-Lauber, Anna

2015-02-01

193

Coming of Age in the Kisspeptin Era: Sex differences, Development, and Puberty  

PubMed Central

The status of the neuroendocrine reproductive axis differs dramatically between early development, puberty, and various stages of adulthood, and also differs in several critical ways between the sexes, including its earlier pubertal activation in females than males and the presence of neural circuitry that generates preovulatory hormone surges in females but not males. The reproductive axis is controlled by various hormonal and neural pathways that converge upon forebrain gonadotropin-releasing hormone (GnRH) neurons, and many of the critical age and sex differences in the reproductive axis likely reflect differences in the “upstream” circuits and factors that regulate the GnRH system. Recently, the neural kisspeptin system has been implicated as an important regulator of GnRH neurons. Here I discuss the evidence supporting a critical role of kisspeptin signaling at different stages of life, including early postnatal and pubertal development, as well as in adulthood, focusing primarily on information gleaned from mammalian studies. I also evaluate key aspects of sexual differentiation and development of the brain as it relates to the Kiss1 system, with special emphasis on rodents. In addition to discussing recent advances in the field of kisspeptin biology, this paper will highlight a number of unanswered questions and future challenges for kisspeptin investigators, and will stress the importance of studying the kisspeptin system in both males and females, as well as in multiple species. PMID:20083160

Kauffman, Alexander S.

2010-01-01

194

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

PubMed

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

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

2015-03-01

195

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

NASA Astrophysics Data System (ADS)

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.

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

2012-01-01

196

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

PubMed Central

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

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

2013-01-01

197

Silencing abnormal wing disc gene of the Asian citrus psyllid, Diaphorina citri disrupts adult wing development and increases nymph mortality.  

PubMed

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 (5(th)) of the nymphal stage. Micro-application (topical application) of dsRNA to 5(th) 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

El-Shesheny, Ibrahim; Hajeri, Subhas; El-Hawary, Ibrahim; Gowda, Siddarame; Killiny, Nabil

2013-01-01

198

Developing and testing a multi-probe resonance electrical impedance spectroscopy system for detecting breast abnormalities  

NASA Astrophysics Data System (ADS)

In our previous study, we reported on the development and preliminary testing of a prototype resonance electrical impedance spectroscopy (REIS) system with a pair of probes. Although our pilot study on 150 young women ranging from 30 to 50 years old indicated the feasibility of using REIS output sweep signals to classify between the women who had negative examinations and those who would ultimately be recommended for biopsy, the detection sensitivity was relatively low. To improve performance when using REIS technology, we recently developed a new multi-probe based REIS system. The system consists of a sensor module box that can be easily lifted along a vertical support device to fit women of different height. Two user selectable breast placement "cups" with different curvatures are included in the system. Seven probes are mounted on each of the cups on opposing sides of the sensor box. By rotating the sensor box, the technologist can select the detection sensor cup that better fits the breast size of the woman being examined. One probe is mounted in the cup center for direct contact with the nipple and the other six probes are uniformly distributed along an outside circle to enable contact with six points on the outer and inner breast skin surfaces. The outer probes are located at a distance of 60mm away from the center (nipple) probe. The system automatically monitors the quality of the contact between the breast surface and each of the seven probes and data acquisition can only be initiated when adequate contact is confirmed. The measurement time for each breast is approximately 15 seconds during which time the system records 121 REIS signal sweep outputs generated from 200 KHz to 800 KHz at 5 KHz increments for all preselected probe pairs. Currently we are measuring 6 pairs between the center probe and each of six probes located on the outer circle as well as two pairs between probe pairs on the outer circle. This new REIS system has been installed in our clinical breast imaging facility. We are conducting a prospective study to assess performance when using this REIS system under an approved IRB protocol. Over 200 examinations have been conducted to date. Our experience showed that this new REIS system was easy to operate and the REIS examination was fast and considered "comfortable" by examinees since the women presses her breast into the cup herself without any need for forced breast compression, and all but a few highly sensitive women have any sensation of an electrical current during the measurement.

Gur, David; Zheng, Bin; Dhurjaty, Sreeram; Wolfe, Gene; Fradin, Mary; Weil, Richard; Sumkin, Jules; Zuley, Margarita

2009-02-01

199

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

PubMed Central

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

Swierczynski, Julian; Hebanowska, Areta; Sledzinski, Tomasz

2014-01-01

200

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...

201

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

PubMed Central

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

2011-01-01

202

Sex differentials in survivorship in the developing world: levels, regional patterns and demographic determinants.  

PubMed

This study analyses patterns of sex differentials in survivorship in less developed countries (LDCs) and compares the findings to the historical (1850s to present) experience of the more developed world (MDCs). On average, the sex differential in life expectancy at birth (SDLE) increases by about 1/5 of a year, in favor of females, for each 1 year improvement in life expectancy at birth. At current average levels of life expectancy in the LDCs (59 years), the SDLE is estimated to be 3.2 years. Even after controlling for differences in mortality level, strong regional variation exists in sex differentials. Within-continent variations in the Americas and Asia are mainly due to differences in female life expectancy. Within Africa, however, the variation in sex differentials is due to a combination of low female life expectancy and high male life expectancy. Within-continent variation is due to mortality differentials among all age groups. However, different age groups play greater or lesser roles within the different continents. At high mortality levels, SDLEs on average are smaller in the LDCs than those historically found in the MDCs, but by the later stage of the mortality transition, the SDLEs in LDCs are, on average, similar to those found in the MDCs. The widening of the female-male differential in life expectancy at birth does not appear to be a concomitant consequence of mortality decline, and may, in fact, prove to be a post 2nd World War phenomenon related to post-War changes in areas of personal behavior, societal modernization and economic structure. That women live longer than men is one of those few demographic facts known to lay persons and demographers alike. Only in a few countries, concentrated in South Asia and Northern Africa, do women, on average, die at earlier ages than men and in most of those countries this female disadvantage is minimal by the time of marriage and has disappeared by the end of the childbearing period. Size of female advantage in life expectancy varies among population and is systematically associated with geographical region and overall mortality levels and within societies to interrelationships with habits of culture and with modernization. Of less importance but also associated is genetic traits and ecology of the land. PMID:12342008

1988-01-01

203

SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development  

Microsoft Academic Search

SRY, SOX9, and DAX1 are key genes in human sex determination, by virtue of their associated male-to-female sex reversal phenotypes when mutated (SRY, SOX9) or over-expressed (DAX1). During human sex determination, SRY is expressed in 46,XY gonads coincident with sex cord formation, but also persists as nuclear protein within Sertoli cells at 18 weeks gestation. High-level SOX9 expression in the

N. A Hanley; D. M Hagan; M Clement-Jones; S. G Ball; T Strachan; L Salas-Cortés; K McElreavey; S Lindsay; S Robson; P Bullen; H Ostrer; D. I Wilson

2000-01-01

204

Development and Refinement of a Measure of Attitudes toward Sex Offender Treatment  

ERIC Educational Resources Information Center

In recent years public attitudes toward sex offenders have become increasingly punitive. Consequently, new legislation pertaining to the sentencing and treatment of convicted sex offenders has been focused on containment and monitoring rather than rehabilitation. However, research suggests that treatment programs for sex offenders are effective in…

Wnuk, Dorota; Chapman, Jason E; Jeglic, Elizabeth L.

2006-01-01

205

The anterior tooth development of cattle presented for slaughter: an analysis of age, sex and breed.  

PubMed

In a cross-sectional study, data from records of cattle slaughtered over a 1-year period at a large abattoir in South West England were analysed using an ordered category response model to investigate the inter-relationships between age, sex and breed on development of the permanent anterior (PA) teeth. Using the model, transition points at which there was a 50% probability of membership of each category of paired PA teeth were identified. Data from ?60,000 animals were initially analysed for age and sex effect. The age transition was found to be ?23 months moving from zero to two teeth; 30 months for two to four teeth; 37 months for four to six teeth and 42 months for six to eight teeth. Males were found to develop, on average, ?22 days earlier than females across all stages. A reduced data set of ?23,000 animals registered as pure-bred only was used to compare breed and type interactions and to investigate sex effects within the sub-categories. Breeds were grouped into dairy and beef-type and beef breeds split into native and continental. It was found that dairy-types moved through the transition points earlier than beef-types across all stages (interval varying between ?8 and 12 weeks) and that collectively, native beef breeds moved through the transition points by up to 3 weeks earlier than the continental beef breeds. Interestingly, in contrast to beef animals, dairy females matured before dairy males. However, the magnitude of the difference between dairy females and males diminished at the later stages of development. Differences were found between breeds. Across the first three stages, Ayrshires and Guernseys developed between 3 and 6 weeks later than Friesian/Holsteins and Simmental, Limousin and Blonde Aquitaine 6 and 8 weeks later than Aberdeen Angus. Herefords, Charolais and South Devon developed later but by a smaller interval and Red Devon and Galloway showed the largest individual effect with transition delayed by 8 to 12 weeks. PMID:23552220

Whiting, K J; Brown, S N; Browne, W J; Hadley, P J; Knowles, T G

2013-08-01

206

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

PubMed

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

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

2015-04-01

207

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

PubMed Central

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

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

2015-01-01

208

Sex differences in the development of airway epithelial tolerance to naphthalene  

PubMed Central

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

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

2012-01-01

209

Multiple renal cyst development but not situs abnormalities in transgenic RNAi mice against Inv::GFP rescue gene.  

PubMed

In this study we generated RNA interference (RNAi)-mediated gene knockdown transgenic mice (transgenic RNAi mice) against the functional Inv gene. Inv mutant mice show consistently reversed internal organs (situs inversus), multiple renal cysts and neonatal lethality. The Inv::GFP-rescue mice, which introduced the Inv::GFP fusion gene, can rescue inv mutant mice phenotypes. This indicates that the Inv::GFP gene is functional in vivo. To analyze the physiological functions of the Inv gene, and to demonstrate the availability of transgenic RNAi mice, we introduced a short hairpin RNA expression vector against GFP mRNA into Inv::GFP-rescue mice and analyzed the gene silencing effects and Inv functions by examining phenotypes. Transgenic RNAi mice with the Inv::GFP-rescue gene (Inv-KD mice) down-regulated Inv::GFP fusion protein and showed hypomorphic phenotypes of inv mutant mice, such as renal cyst development, but not situs abnormalities or postnatal lethality. This indicates that shRNAi-mediated gene silencing systems that target the tag sequence of the fusion gene work properly in vivo, and suggests that a relatively high level of Inv protein is required for kidney development in contrast to left/right axis determination. Inv::GFP protein was significantly down-regulated in the germ cells of Inv-KD mice testis compared with somatic cells, suggesting the existence of a testicular germ cell-specific enhanced RNAi system that regulates germ cell development. The Inv-KD mouse is useful for studying Inv gene functions in adult tissue that are unable to be analyzed in inv mutant mice showing postnatal lethality. In addition, the shRNA-based gene silencing system against the tag sequence of the fusion gene can be utilized as a new technique to regulate gene expression in either in vitro or in vivo experiments. PMID:24586938

Kamijho, Yuki; Shiozaki, Yayoi; Sakurai, Eiki; Hanaoka, Kazunori; Watanabe, Daisuke

2014-01-01

210

Exogenous application of estradiol to eggs unexpectedly induces male development in two turtle species with temperature-dependent sex determination.  

PubMed

Steroid hormones affect sex determination in a variety of vertebrates. The feminizing effects of exposure to estradiol and the masculinizing effects of aromatase inhibition during development are well established in a broad range of vertebrate taxa, but paradoxical findings are occasionally reported. Four independent experiments were conducted on two turtle species with temperature-dependent sex determination (Chrysemys picta and Chelydra serpentina) to quantify the effects of egg incubation temperature, estradiol, and an aromatase inhibitor on offspring sex ratios. As expected, the warmer incubation temperatures induced female development and the cooler temperatures produced primarily males. However, application of an aromatase inhibitor had no effect on offspring sex ratios, and exogenous applications of estradiol to eggs produced male offspring across all incubation temperatures. These unexpected results were remarkably consistent across all four experiments and both study species. Elevated concentrations of estradiol could interact with androgen receptors or inhibit aromatase expression, which might result in relatively high testosterone concentrations that lead to testis development. These findings add to a short list of studies that report paradoxical effects of steroid hormones, which addresses the need for a more comprehensive understanding of the role of sex steroids in sexual development. PMID:24954686

Warner, Daniel A; Addis, Elizabeth; Du, Wei-guo; Wibbels, Thane; Janzen, Fredric J

2014-09-15

211

Clinicopathological spectrum of ovarian sex cord-stromal tumors; 20 years’ retrospective study in a developing country  

PubMed Central

Background Ovarian sex cord stromal tumors are rare neoplasms as compared to epithelial tumors. No large study has been done in Pakistan to find out the frequencies of various sex cord stromal tumors and their clinicopathological behavior in our region. The purpose of our study was to determine the various histological patterns and clinical features of ovarian sex cord stromal tumors along with follow-up in our set-up. Methods It is a retrospective observational study. The study was conducted in section of Histopathology, Aga Khan University Hospital, Karachi, Pakistan. All reported cases of sex cord stromal tumors of ovary during 1992 to 2012 were retrieved. The retrieved slides were reviewed and patient demographics, clinical and pathological features were noted on proforma. SPSS Statistics Version 19 was used for all analyses. Data is expressed as absolute values and percentage or as mean ± standard deviation (SD). Results A total of 480 cases of sex cord stromal tumors were retrieved. The median age was 45 years. Bilaterality was observed in 4 cases. Of the different subtypes of sex-cord stromal tumors, most common was adult granulosa cell tumor 211(43.9%). 24 Juvenile granulosa cell tumors were retrieved (5%). Other types were fibromas 98 (20.4%) fibrothecomas 47(9.8%), thecomas 26(5.4%), sertoli-leydig cell tumors 34(7%), sclerosing stromal tumors 26 (5.4%), steroid cell tumors (10) and 4 cases of sex cord tumor with annular tubules. Of various immunohistochemical stains applied, Inhibin was frequently positive in all subtypes and focal cytokeratins were also seen commonly. Follow up information was available in 305 cases and out of these only 16 (5%) developed recurrence or metastasis. Conclusions Sex cord stromal tumors are uncommon ovarian tumors in Pakistani population, with wide age range and diverse histological types having good prognosis. Immunohistochemical markers overlap with epithelial tumors so there is need to distinguish these two. PMID:24304499

2013-01-01

212

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

PubMed Central

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

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

2015-01-01

213

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

PubMed Central

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

2014-01-01

214

Sex differences and the development of the rabbit brain: effects of vinclozolin.  

PubMed

The preoptic/anterior hypothalamic area (POA/AH) is one of the most sexually dimorphic areas of the vertebrate brain and plays a pivotal role in regulating male sexual behavior. Vinclozolin is a fungicide thought to be an environmental antiandrogen, which disrupts masculine sexual behavior when administered to rabbits during development. In this study, we examined several characteristics of the rabbit POA/AH for sexual dimorphism and endocrine disruption by vinclozolin. Pregnant rabbits were dosed orally with vinclozolin (10 mg/kg body weight) or carrot paste vehicle once daily for 6 wk beginning at midgestation and continuing through nursing until Postpartum Week 4. At 6 wk, offspring were perfused with 4% paraformaldehyde and brains processed for immunocytochemical localization of tyrosine hydroxylase, calbindin, gonadotropin-releasing hormone (GnRH), or Nissl stain. There were significant sex differences in the distribution of calbindin in the POA/AH and the size of cells in the dorsal POA/AH (values greater in females than in males), but not in the number or distribution of tyrosine hydroxylase or GnRH neurons. In both sexes, exposure to vinclozolin significantly increased calbindin expression in the ventral POA/AH and significantly decreased number of GnRH neurons selectively in the region of the organum vasculosum of the lamina terminalis (OVLT) but not more caudally in the POA/AH. This is the first documentation of a sexually dimorphic region in the rabbit brain, and further supports the use of this species as a model for studying the influence of vinclozolin on reproductive development with potential application to human systems. PMID:16738224

Bisenius, Erin S; Veeramachaneni, D N Rao; Sammonds, Ginger E; Tobet, Stuart

2006-09-01

215

Temperature Sex Reversal Implies Sex Gene Dosage in a Reptile  

E-print Network

Temperature Sex Reversal Implies Sex Gene Dosage in a Reptile Alexander E. Quinn,1 * Arthur Georges by genes on sex chromo- somes in many vertebrates [genotypic sex determination (GSD)], but may also be determined by temperature during embryonic development [temperature-dependent sex de- termination (TSD)] (1

Canberra, University of

216

Abnormal Cats' Paws  

Microsoft Academic Search

ABNORMITIES in cats' paws occur rather frequently in Massachusetts. They are called mitten cats, and are much in demand because they are considered to be good mousers. The first I ever saw was a male yellow tiger, whose four paws had two extra toes strongly developed. A little stray female kitten which was brought up at my house had two

H. A. Hagen

1887-01-01

217

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

Microsoft Academic Search

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 (E2) and

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

2002-01-01

218

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

PubMed

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

Gato, Jorge; Fontaine, Anne Marie

2013-01-01

219

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

PubMed Central

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

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

220

Sex-dependent role of the amygdala in the development of emotional and neuroendocrine reactivity to threatening stimuli in infant and juvenile rhesus monkeys  

PubMed Central

Amygdala dysfunction and abnormal fear and stress reactivity are common features of several developmental neuropsychiatric disorders. Yet, little is known about the exact role the amygdala plays in the development of threat detection and emotional modulation. The current study examined the effects of neonatal amygdala lesions on defensive, emotional, and neuroendocrine reactivity of infant rhesus monkeys reared with their mothers in large species-typical social groups. Monkeys received either bilateral MRI-guided ibotenic acid amygdala (Neo-A; n = 16) or sham (Neo-C; n = 12) lesions at 24.8 ± 1.2 days of age, or served as behavioral control (Neo-BC; n = 3). Defensive and emotional responses were assessed using the Human Intruder Paradigm as infants and as juveniles (2.5 and 12 months of age, respectively), whereas neuroendocrine reactivity was only examined during the juvenile period. As infants, Neo-A animals expressed similar levels of freezing and hostile behaviors as compared to controls, whereas during the juvenile period Neo-A animals expressed significantly less freezing compared to controls. Interestingly, the sex of the infant modulated the behavioral effects of neonatal amygdalectomy, leading to different patterns of behavior depending on the sex and lesion status of the infant. Unlike controls, Neo-A infants did not modulate their behavioral responses based on the salience of the threat. The impact of neonatal amygdalectomy increased with age, such that Neo-A juveniles exhibited fewer emotional behaviors and increased cortisol response to the stressor as compared to controls. These data indicate that the amygdala plays a critical role in the development of both emotional and neuroendocrine reactivity as well as the expression of sexually dimorphic emotional expression. PMID:23380162

Raper, Jessica; Wallen, Kim; Sanchez, Mar M.; Stephens, Shannon B. Z.; Henry, Amy; Villareal, Trina; Bachevalier, Jocelyne

2013-01-01

221

Sex-dependent role of the amygdala in the development of emotional and neuroendocrine reactivity to threatening stimuli in infant and juvenile rhesus monkeys.  

PubMed

Amygdala dysfunction and abnormal fear and stress reactivity are common features of several developmental neuropsychiatric disorders. Yet, little is known about the exact role the amygdala plays in the development of threat detection and emotional modulation. The current study examined the effects of neonatal amygdala lesions on defensive, emotional, and neuroendocrine reactivity of infant rhesus monkeys reared with their mothers in large species-typical social groups. Monkeys received either bilateral MRI-guided ibotenic acid amygdala (Neo-A; n = 16) or sham (Neo-C; n = 12) lesions at 24.8 ± 1.2 days of age, or served as behavioral control (Neo-BC; n = 3). Defensive and emotional responses were assessed using the Human Intruder paradigm as infants and as juveniles (2.5 and 12 months of age, respectively), whereas neuroendocrine reactivity was only examined during the juvenile period. As infants, Neo-A animals expressed similar levels of freezing and hostile behaviors as compared to controls, whereas during the juvenile period Neo-A animals expressed significantly less freezing compared to controls. Interestingly, the sex of the infant modulated the behavioral effects of neonatal amygdalectomy, leading to different patterns of behavior depending on the sex and lesion status of the infant. Unlike controls, Neo-A infants did not modulate their behavioral responses based on the salience of the threat. The impact of neonatal amygdalectomy increased with age, such that Neo-A juveniles exhibited fewer emotional behaviors and increased cortisol response to the stressor as compared to controls. These data indicate that the amygdala plays a critical role in the development of both emotional and neuroendocrine reactivity as well as the expression of sexually dimorphic emotional expression. PMID:23380162

Raper, Jessica; Wallen, Kim; Sanchez, Mar M; Stephens, Shannon B Z; Henry, Amy; Villareal, Trina; Bachevalier, Jocelyne

2013-04-01

222

Gender equality, development, and cross-national sex gaps in life expectancy  

Microsoft Academic Search

Female life expectancy exceeds male life expectancy in almost every country throughout the world. Nevertheless, cross-national variation in the sex gap suggests that social factors, such as gender equality, may directly affect or mediate an underlying biological component. In this article, we examine the association between gender equality and the sex gap in mortality. Previous research has not addressed this

Carla Medalia; Virginia W Chang

2011-01-01

223

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

ERIC Educational Resources Information Center

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…

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

2009-01-01

224

Same-sex Couples and the Law: Recent Developments in the British Isles  

Microsoft Academic Search

This article chronicles the treatment of same-sex couples in England and the Republic of Ireland in recent years in order to ascertain (i) the impact that incorporation of the European Convention into the domestic law of each State has had on the rights of same-sex couples, (ii) what the introduction of civil partnership legislation might mean for the future of

Brian Tobin

2009-01-01

225

Internet Sex AddictionRisk Factors, Stages of Development, and Treatment  

Microsoft Academic Search

Internet sex addiction typically involves viewing, downloading, and trading online pornography or engagement in adult fantasy role-play rooms. Adult Web sites comprise the largest segment of electronic commerce catering to a wide variety of sexual interests. Given the widespread availability of sexually explicit material online, Internet sex addiction is the most common form of problem online behavior among users. Using

Kimberly S. Young

2008-01-01

226

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

ERIC Educational Resources Information Center

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…

Hillman, Carol A.

227

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

PubMed

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

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

2007-01-01

228

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

Microsoft Academic Search

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

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

2011-01-01

229

Prevalence of Electrocardiographic Abnormalities in a Middle-Aged, Biracial Population: Coronary Artery Risk Development in Young Adults (CARDIA) Study  

PubMed Central

Background Few studies to date have described the prevalence of electrocardiographic (ECG) abnormalities in a biracial middle-aged cohort. Methods and Results Participants underwent measurement of traditional risk factors and 12-lead ECGs coded using both Minnesota Code (MC) and Novacode (NC) criteria. Among 2585 participants, of whom 57% were women and 44% were black (mean age 45 years), the prevalence of major and minor abnormalities were significantly higher (all P<0.001) among black men and women compared to whites. These differences were primarily due to higher QRS voltage and ST/T wave abnormalities among blacks. There was also a higher prevalence of Q waves (MC 1-1, 1-2, 1-3) than described by previous studies. These racial differences remained after multivariate adjustment for traditional cardiovascular (CV) risk factors. Conclusions Black men and women have a significantly higher prevalence of ECG abnormalities, independent of traditional CV risk factors, than whites in a contemporary cohort middle-aged participants. PMID:20374967

Walsh, Joseph A; Prineas, Ronald; Daviglus, Martha L.; Ning, Hongyan; Liu, Kiang; Lewis, Cora E.; Sidney, Steven; Schreiner, Pamela J.; Iribarren, Carlos; Lloyd-Jones, Donald M.

2013-01-01

230

Testing homology with morphology, development and gene expression: sex-specific thoracic appendages of the ant Diacamma  

E-print Network

Testing homology with morphology, development and gene expression: sex-specific thoracic appendages'Ecologie, UMR 7625 CNRS et Universite´ Pierre et Marie Curie, 7 quai St Bernard, 75005 Paris, France b Bernard, Paris 75005, France ÃAuthor for correspondence (email: jean.deutsch@snv.jussieu.fr) SUMMARY

Danchin, Etienne

231

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 ...

232

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 ...

233

Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features  

Microsoft Academic Search

Although clinical features in Turner syndrome have been well defined, underlying genetic factors have not been clarified. To deduce the factors leading to the development of clinical features, we took the following four steps: (1) assessment of clinical features in classic 45,X Turner syndrome; (2) review of clinical features in various female sex chromosome aberrations (karyotype-phenotype correlations); (3) assessment of

Tsutomu Ogata; Nobutake Matsuo

1995-01-01

234

DEVELOPMENT AND FIELD EVALUATION OF A PUPAL-COLOR BASED GENETIC SEXING STRAIN OF THE MELON FRUIT FLY, BACTROCERA CUCURBITAE  

Technology Transfer Automated Retrieval System (TEKTRAN)

The first genetic sexing system for the melon fly, Bactrocera cucurbitae (Coquillett), based on pupal color was developed. This system permits the separation of males (wild-type brown pupae) from females (mutant white pupae). Egg hatch averaged 42% for flies 2-5 weeks old, with higher rates (ca. 50%...

235

Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia  

PubMed Central

Disorder of sex development (DSD) patients in Indonesia most often do not receive a proper diagnostic evaluation and treatment. This study intended to categorize 88 Indonesian patients in accordance with the new consensus DSD algorithm. Diagnostic evaluation including clinical, hormonal, genetic, imaging, surgical, and histological parameters was performed. Fifty-three patients were raised as males, and 34 as females. Of 22 patients with 46, XX DSD, 15 had congenital adrenal hyperplasia, while in one patient, an ovarian Leydig cell tumor was found. In all 58 46, XY DSD patients, 29 were suspected of a disorder of androgen action (12 with an androgen receptor mutation), and in 9, gonadal dysgenesis was found and, in 20, severe hypospadias e.c.i. Implementation of the current consensus statement in a resource-poor environment is very difficult. The aim of the diagnostic workup in developing countries should be to end up with an evidence-based diagnosis. This is essential to improve treatment and thereby to improve the patients' quality of life. PMID:22253624

Juniarto, A. Zulfa; van der Zwan, Yvonne G.; Santosa, Ardy; Hersmus, Remko; de Jong, Frank H.; Olmer, Renske; Bruggenwirth, Hennie T.; Themmen, Axel P. N.; Wolffenbuttel, Katja P.; Looijenga, Leendert H. J.; Faradz, Sultana M. H.; Drop, Stenvert L. S.

2012-01-01

236

Severity of liver disease predicts the development of glucose abnormalities in patients with chronic hepatitis B or C following achievement of sustained virological response to antiviral therapy.  

PubMed

A higher prevalence of glucose abnormalities has been reported in patients with hepatitis C virus (HCV) infection compared to patients with hepatitis B virus (HBV) infection. However, previous studies considered some confounding factors and ignored others, which might influence the comparative risk assessment between HBV and HCV infections. Fasting plasma glucose concentration, severity of liver disease and viral load were determined in 220 patients with HCV genotype 4 infection, and 200 patients with HBV infection. Patients completing antiviral therapy were followed-up, and the fasting plasma glucose levels were determined in patients with and without sustained virological response. The prevalence of glucose abnormalities in HCV infection (41%) was significantly higher than that in HBV infection (16%). However, when controlling the severity of liver disease and other risk factors, the prevalence of glucose abnormalities in patients with HCV infection was comparable to that in patients with HBV infection. After attaining of sustained virological response, a decrease of the median fasting plasma glucose value was observed only in chronic hepatitis C. In the group of patients with normal fasting plasma glucose levels, an association of nonsustained virological response with the development of impaired fasting glucose was only observed in chronic hepatitis C. The severity of liver disease was a common predictor of impaired fasting glucose in hepatitis B and C infections. These results indicate that high prevalence of glucose abnormalities can be associated with HBV- and HCV-related liver disease, and that clearance of HCV, but not HBV, may improve glucose metabolism. PMID:19235842

Chehadeh, Wassim; Al-Nakib, Widad

2009-04-01

237

Adenotonsillar hypertrophy as a risk factor of dentofacial abnormality in Korean children.  

PubMed

No studies for the role of adenotonsillar hypertrophy in development of dentofacial abnormalities have been performed in Asian pediatric population. Thus, we aimed to investigate the relationship between adenotonsillar hypertrophy and dentofacial abnormalities in Korean children. The present study included consecutive children who visited a pediatric clinic for sleep-disordered breathing due to habitual mouth breathing, snoring or sleep apnea. Their palatine tonsils and adenoids were graded by oropharyngeal endoscopy and lateral cephalometry. Anterior open bite, posterior crossbite, and Angle's class malocclusions were evaluated for dentofacial abnormality. The receiver-operating characteristic curve analysis was used to identify age cutoffs to predict dentofacial abnormality. A total of 1,083 children were included. The presence of adenotonsillar hypertrophy was significantly correlated with the prevalence of dentofacial abnormality [adjusted odds ratio = 4.587, 95 % CI (2.747-7.658)] after adjusting age, sex, body mass index, allergy, and Korean version of obstructive sleep apnea-18 score. The cutoff age associated with dentofacial abnormality was 5.5 years (sensitivity = 75.5 %, specificity = 67 %) in the children with adenotonsillar hypertrophy and 6.5 years (sensitivity = 70.6 %, specificity = 57 %) in those without adenotonsillar hypertrophy. In conclusion, adenotonsillar hypertrophy may be a risk factor for dentofacial abnormalities in Korean children and early surgical intervention could be considered with regards to dentofacial abnormality. PMID:25490975

Kim, Dong-Kyu; Rhee, Chae Seo; Yun, Pil-Young; Kim, Jeong-Whun

2014-12-10

238

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

PubMed

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

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

2002-07-12

239

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...

240

Tumors of bilateral streak gonads in patients with disorders of sex development containing y chromosome material.  

PubMed

The presence of Y chromosome material in patients with disorders of sex development (DSD) has been associated with a high risk of gonadoblastoma. Therefore, gonadectomy is recommended in females with bilateral streak gonads and Y chromosome material. The aim of this study was to present our experience with prophylactic gonadectomy in those patients and evaluate their risk of gonadal tumors. We reviewed the charts of 11 female patients who had bilateral gonadectomy (by laparoscopically in 9 patients, by laparotomy in 2 patients) between 1991 and 2012 at our hospital. Seven patients with Turner syndrome (TS) who carry a Y mosaic karyotype in peripheral blood, 3 patients with Swyer syndrome and one patient with Frasier syndrome were included. All patients had an unambiguous female phenotype. Age at surgery and follow-up ranged from 2 to 23 (mean 11) and 0.5 to 20 (mean 8) yr, respectively. Pathologic examination revealed gonadal tumors in 6 of 11 patients (56%), including 4 with TS, the youngest of which was 2 yr old, one with Swyer syndrome and one with Frasier syndrome. A gonadoblastoma was detected in 8 gonads, and an association of dysgerminoma with gonadoblastoma was detected in 2 gonads. Imaging studies showed no metastasis, and the postoperative course was uneventful in all patients. In our series of DSD patients with bilateral streak gonads and Y chromosome material, the risk of gonadal tumor was high. Considering the early occurrence of gonadoblastoma and its high potential for malignant transformation, early prophylactic gonadectomy is strongly recommended. PMID:25110393

Matsumoto, Fumi; Shimada, Kenji; Ida, Shinobu

2014-07-01

241

Tumors of Bilateral Streak Gonads in Patients with Disorders of Sex Development Containing Y Chromosome Material  

PubMed Central

Abstract The presence of Y chromosome material in patients with disorders of sex development (DSD) has been associated with a high risk of gonadoblastoma. Therefore, gonadectomy is recommended in females with bilateral streak gonads and Y chromosome material. The aim of this study was to present our experience with prophylactic gonadectomy in those patients and evaluate their risk of gonadal tumors. We reviewed the charts of 11 female patients who had bilateral gonadectomy (by laparoscopically in 9 patients, by laparotomy in 2 patients) between 1991 and 2012 at our hospital. Seven patients with Turner syndrome (TS) who carry a Y mosaic karyotype in peripheral blood, 3 patients with Swyer syndrome and one patient with Frasier syndrome were included. All patients had an unambiguous female phenotype. Age at surgery and follow-up ranged from 2 to 23 (mean 11) and 0.5 to 20 (mean 8) yr, respectively. Pathologic examination revealed gonadal tumors in 6 of 11 patients (56%), including 4 with TS, the youngest of which was 2 yr old, one with Swyer syndrome and one with Frasier syndrome. A gonadoblastoma was detected in 8 gonads, and an association of dysgerminoma with gonadoblastoma was detected in 2 gonads. Imaging studies showed no metastasis, and the postoperative course was uneventful in all patients. In our series of DSD patients with bilateral streak gonads and Y chromosome material, the risk of gonadal tumor was high. Considering the early occurrence of gonadoblastoma and its high potential for malignant transformation, early prophylactic gonadectomy is strongly recommended. PMID:25110393

Matsumoto, Fumi; Shimada, Kenji; Ida, Shinobu

2014-01-01

242

MicroRNA-122 Influences the Development of Sperm Abnormalities from Human Induced Pluripotent Stem Cells by Regulating TNP2 Expression  

PubMed Central

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

Huang, Yongyi; Liu, Jianjun; Zhao, Yanhui; Jiang, Lizhen; Huang, Qin

2013-01-01

243

Using sex differences in the developing brain to identify nodes of influence for seizure susceptibility and epileptogenesis.  

PubMed

Sexual differentiation of the developing brain organizes the neural architecture differently between males and females, and the main influence on this process is exposure to gonadal steroids during sensitive periods of prenatal and early postnatal development. Many molecular and cellular processes are influenced by steroid hormones in the developing brain, including gene expression, cell birth and death, neurite outgrowth and synaptogenesis, and synaptic activity. Perturbations in these processes can alter neuronal excitability and circuit activity, leading to increased seizure susceptibility and the promotion of pathological processes that constitute epileptogenesis. In this review, we will provide a general overview of sex differences in the early developing brain that may be relevant for altered seizure susceptibility in early life, focusing on limbic areas of the brain. Sex differences that have the potential to alter the progress of epileptogenesis are evident at molecular and cellular levels in the developing brain, and include differences in neuronal excitability, response to environmental insult, and epigenetic control of gene expression. Knowing how these processes differ between the sexes can help us understand fundamental mechanisms underlying gender differences in seizure susceptibility and epileptogenesis. PMID:24892888

Kight, Katherine E; McCarthy, Margaret M

2014-12-01

244

COLLAPSED ABNORMAL POLLEN1 Gene Encoding the Arabinokinase-Like Protein Is Involved in Pollen Development in Rice1[C][W][OA  

PubMed Central

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

Ueda, Kenji; Yoshimura, Fumiaki; Miyao, Akio; Hirochika, Hirohiko; Nonomura, Ken-Ichi; Wabiko, Hiroetsu

2013-01-01

245

The influence of sex-linked genetic mechanisms on attention and impulsivity  

PubMed Central

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

Trent, Simon; Davies, William

2012-01-01

246

Neuroprotection of Sex Steroids  

PubMed Central

Sex steroids are essential for reproduction and development in animals and humans, and sex steroids also play an important role in neuroprotection following brain injury. New data indicate that sex-specific responses to brain injury occur at the cellular and molecular levels. This review summarizes the current understanding of neuroprotection by sex steroids, particularly estrogen, androgen, and progesterone, based on both in vitro and in vivo studies. Better understanding of the role of sex steroids under physiological and pathological conditions will help us to develop novel effective therapeutic strategies for brain injury. PMID:20595940

Liu, Mingyue; Kelley, Melissa H.; Herson, Paco S.; Hurn, Patricia D.

2011-01-01

247

Skeletal limb abnormalities  

MedlinePLUS

Skeletal limb abnormalities may be due to: Cancer Genetic diseases and chromosomal abnormalities, including Marfan syndrome , Down syndrome, Apert syndrome , Basal cell nevus syndrome Improper position ...

248

Robust algorithmic detection of the developed cardiac pathologies and emerging or transient abnormalities from short periods of RR data  

NASA Astrophysics Data System (ADS)

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.

Gavrishchaka, Valeriy V.; Senyukova, Olga

2011-06-01

249

Development of systemic lupus erythematosus in a male-to-female transsexual: the role of sex hormones revisited.  

PubMed

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

Chan, K L; Mok, C C

2013-11-01

250

Molecular Studies in Horses with SRY-Positive XY Sex Reversal  

E-print Network

determination genes lead to various abnormal sexual phenotypes, including sex reversal syndrome in which the genetic and phenotypic sex do not match. Sex reversal syndrome has been reported in humans, mouse, and several domestic species. In horses, SRY...

Fang, Erica

2012-02-14

251

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive  

PubMed Central

Background To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene. Methods Five untreated 46, XX patients with SRY-positive were referred for infertility. Clinical data were collected, and Karyotype analysis of G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) were performed. Genomic DNA from peripheral blood of the patients using QIAamp DNA Blood Kits was extracted. The three discrete regions, AZFa, AZFb and AZFc, located on the long arm of the Y chromosome, were performed by multiplex PCRs(Polymerase Chain Reaction) amplification. The set of PCR primers for the diagnosis of microdeletion of the AZFa, AZFb and AZFc region included: sY84, sY86, sY127, sY134, sY254, sY255, SRY and ZFX/ZFY. Results Our five patients had a lower body height. Physical examination revealed that their testes were small in volume, soft in texture and normal penis. Semen analyses showed azoospermia. All patients had a higher follicle-stimulating hormone(FSH), Luteinizing Hormone(LH) level, lower free testosterone, testosterone level and normal Estradiol, Prolactin level. Karyotype analysis of all patients confirmed 46, XX karyotype, and FISH analysis showed that SRY gene were positive and translocated to Xp. Molecular analysis revealed that the SRY gene were present, and the AZFa, AZFb and AZFc region were absent. Conclusions This study adds cases on the five new 46, XX male individuals with SRY-positive and further verifies the view that the presence of SRY gene and the absence of major regions in Y chromosome should lead to the expectance of a completely masculinised phenotype, abnormal hormone levels and infertility. PMID:25169080

2014-01-01

252

Karyotype and identification of sex in two endangered crane species  

USGS Publications Warehouse

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.

Goodpasture, C.; Seluja, G.; Gee, G.

1992-01-01

253

Celebrating the Achievements of Sex and Relationship Peer Educators: The Development of an Assessment Process  

ERIC Educational Resources Information Center

Young people engaged as peer educators are increasingly important in sex and relationship education (SRE) programmes in a variety of settings and are particularly valued in the APAUSE programme (Rees et al., 1997). The increase in popularity of peer education raises a need to value the inputs of young people and to give formal recognition to…

Morgan, Debbie; Robbins, Jonathan; Tripp, John

2004-01-01

254

Reimagining Gender through Policy Development: The Case of a "Single-Sex" Educational Organisation  

ERIC Educational Resources Information Center

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…

Douthirt Cohen, Beth

2012-01-01

255

The Development of Classificatory Skills and Sex-Trait Stereotypes in Children.  

ERIC Educational Resources Information Center

Children of four, six, and eight years of age were tested for knowledge of sex-trait stereotypes. Findings suggest that at first, traits are classified as stereotypical of a gender category; but with increasing cognitive level, these traits become less stereotypical of gender. (Author/CJM)

Leahy, Robert L.; Shirk, Stephen R.

1984-01-01

256

Accrediting Success: Evaluation of a Pilot Professional Development Scheme for Teachers of Sex and Relationship Education  

ERIC Educational Resources Information Center

This paper reports on findings from an evaluation of a pilot accreditation scheme for teachers of sex and relationships education (SRE) in England. The scheme was introduced as part of national measures to reduce rates of teenage conception. Illuminative and participatory methods were used to elicit stakeholder accounts from primary, secondary and…

Warwick, Ian; Aggleton, Peter; Rivers, Kim

2005-01-01

257

The Impact of Sex-Role Stereotyping on Human Development. Monograph, Volume 3, Number 1.  

ERIC Educational Resources Information Center

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…

O'Reilly, Patricia

258

Development of Shyness: Relations with Children's Fearfulness, Sex, and Maternal Behavior  

ERIC Educational Resources Information Center

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

Eggum, Natalie D.; Eisenberg, Nancy; Spinrad, Tracy L.; Reiser, Mark; Gaertner, Bridget M.; Sallquist, Julie; Smith, Cynthia L.

2009-01-01

259

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 ...

260

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

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

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

261

Sex-specific development of cell-mediated immunity under experimentally altered rearing conditions in blue tit nestlings  

PubMed Central

In birds, poor rearing conditions usually have negative effects on T-cell-mediated immune response. However, earlier studies demonstrate that fitness-related traits such as body mass may show sex-specific patterns when subject to alteration of rearing conditions. Therefore, to investigate whether deterioration of rearing conditions influences the development of immune function differently in male and female nestlings, we performed brood size manipulation experiments on blue tit (Parus caeruleus) nestlings. To alter rearing conditions, some broods were increased by three nestlings soon after hatching, while other broods were left non-manipulated. Immune response was assessed as a hypersensitivity reaction to phytohaemagglutinin in 11-day-old nestlings. Additionally, we studied the consequences of brood size manipulation for fledgling body mass and tarsus length. The enlargement of brood size had different effects on the cellular immune responses of male and female nestlings, with males being more negatively affected than their female nest-mates. Sex-specific effects of poor rearing conditions were also recorded for tarsus length, such that tarsus growth was more retarded in female than in male nestlings. We discuss the effects of deterioration of rearing conditions on sex-specific development of cell-mediated immunity with respect to sexual dimorphism of size and developmental strategies in male and female nestlings. PMID:16790408

Dubiec, Anna; Cicho?, Mariusz; Deptuch, Kinga

2006-01-01

262

Sex and breed-dependent organ development and metabolic responses in foetuses from lean and obese/leptin resistant swine.  

PubMed

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

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

263

A Case of ADHD and a Major Y Chromosome Abnormality  

ERIC Educational Resources Information Center

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.…

Mulligan, Aisling; Gill, Michael; Fitzgerald, Michael

2008-01-01

264

Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study???  

PubMed Central

As a group, people with the sex chromosome aneuploidy 49,XXXXY have characteristic physical and cognitive/behavioral tendencies, although there is high individual variation. In this study we use magnetic resonance imaging (MRI) to examine brain morphometry in 14 youth with 49,XXXXY compared to 42 age-matched healthy controls. Total brain size was significantly smaller (t = 9.0, p < .001), and rates of brain abnormalities such as colpocephaly, plagiocephaly, periventricular cysts, and minor craniofacial abnormalities were significantly increased. White matter lesions were identified in 50% of subjects, supporting the inclusion of 49,XXXXY in the differential diagnosis of small multifocal white matter lesions. Further evidence of abnormal development of white matter was provided by the smaller cross sectional area of the corpus callosum. These results suggest that increased dosage of genes on the X chromosome has adverse effects on white matter development. PMID:23667827

Blumenthal, Jonathan D.; Baker, Eva H.; Lee, Nancy Raitano; Wade, Benjamin; Clasen, Liv S.; Lenroot, Rhoshel K.; Giedd, Jay N.

2013-01-01

265

46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.  

PubMed

Steroidogenic factor 1 (SF1) is a nuclear receptor encoded by the NR5A1 gene. SF1 affects both sexual and adrenal development through the regulation of target gene expression. Genotypic male and female SF1 knockout mice have adrenal and gonadal agenesis with persistent Müllerian structures and early lethality. There have been several reports of NR5A1 mutations in individuals with 46,XY complete gonadal dysgenesis (CGD) or other disorders of sex development (DSD) with or without an adrenal phenotype. To date microdeletions involving NR5A1 have been reported in only two patients with DSDs. We report a novel microdeletion encompassing NR5A1 in a patient with 46,XY DSD and developmental delay. The phenotypically female patient initially presented with mild developmental delay and dysmorphisms. Chromosome analysis revealed a 46,XY karyotype. A 1.54 Mb microdeletion of chromosome 9q33.3 including NR5A1 was detected by array CGH and confirmed by FISH. Normal maternal FISH results indicated that this was most likely a de novo event. Since most NR5A1 mutations have been ascertained through gonadal or adrenal abnormalities, the additional findings of developmental delay and minor facial dysmorphisms are possibly related to haploinsufficiency of other genes within the 1.54 Mb deleted region. This report further confirms the role of NR5A1 deletions in 46,XY DSD and reinforces the utility of aCGH in the work up of DSDs of unclear etiology. PMID:24056159

Brandt, Tracy; Blanchard, Leah; Desai, Khyati; Nimkarn, Saroj; Cohen, Ninette; Edelmann, Lisa; Mehta, Lakshmi

2013-11-01

266

The unintended consequences of sex education: an ethnography of a development intervention in Latin America  

PubMed Central

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

Nelson, Erica; Edmonds, Alexander; Ballesteros, Marco; Encalada Soto, Diana; Rodriguez, Octavio

2014-01-01

267

Diffusion MRI of the Developing Cerebral Cortical Gray Matter can be Used to Detect Abnormalities in Tissue Microstructure Associated with Fetal Ethanol Exposure  

PubMed Central

Fetal alcohol spectrum disorders (FASDs) comprise a wide range of neurological deficits that result from fetal exposure to ethanol (EtOH), and are the leading cause of environmentally related birth defects and mental retardation in the western world. One aspect of diagnostic and therapeutic intervention strategies that could substantially improve our ability to combat this significant problem would be to facilitate earlier detection of the disorders within individuals. Light microscopy-based investigations performed by several laboratories have previously shown that morphological development of neurons within the early-developing cerebral cortex is abnormal within the brains of animals exposed to EtOH during fetal development. We and others have recently demonstrated that diffusion MRI can be of utility for detecting abnormal cellular morphological development in the developing cerebral cortex. We therefore assessed whether diffusion tensor imaging (DTI) could be used to distinguish the developing cerebral cortices of ex vivo rat pup brains born from dams treated with EtOH (EtOH; 4.5 g/kg, 25%) or calorie-matched quantities of maltose/dextrin (M/D) throughout gestation. Water diffusion and tissue microstructure were investigated using DTI (fractional anisotropy, FA) and histology (anisotropy index, AI), respectively. Both FA and AI decreased with age, and were higher in the EtOH than the M/D group at postnatal ages (P)0, P3, and P6. Additionally, there was a significant correlation between FA and AI measurements. These findings provide evidence that disruptions in cerebral cortical development induced by EtOH exposure can be revealed by water diffusion anisotropy patterns, and that these disruptions are directly related to cerebral cortical differentiation. PMID:23921100

Leigland, Lindsey A.; Budde, Matthew D.; Cornea, Anda; Kroenke, Christopher D.

2013-01-01

268

Diffusion MRI of the developing cerebral cortical gray matter can be used to detect abnormalities in tissue microstructure associated with fetal ethanol exposure.  

PubMed

Fetal alcohol spectrum disorders (FASDs) comprise a wide range of neurological deficits that result from fetal exposure to ethanol (EtOH), and are the leading cause of environmentally related birth defects and mental retardation in the western world. One aspect of diagnostic and therapeutic intervention strategies that could substantially improve our ability to combat this significant problem would be to facilitate earlier detection of the disorders within individuals. Light microscopy-based investigations performed by several laboratories have previously shown that morphological development of neurons within the early-developing cerebral cortex is abnormal within the brains of animals exposed to EtOH during fetal development. We and others have recently demonstrated that diffusion MRI can be of utility for detecting abnormal cellular morphological development in the developing cerebral cortex. We therefore assessed whether diffusion tensor imaging (DTI) could be used to distinguish the developing cerebral cortices of ex vivo rat pup brains born from dams treated with EtOH (EtOH; 4.5 g/kg, 25%) or calorie-matched quantities of maltose/dextrin (M/D) throughout gestation. Water diffusion and tissue microstructure were investigated using DTI (fractional anisotropy, FA) and histology (anisotropy index, AI), respectively. Both FA and AI decreased with age, and were higher in the EtOH than the M/D group at postnatal ages (P)0, P3, and P6. Additionally, there was a significant correlation between FA and AI measurements. These findings provide evidence that disruptions in cerebral cortical development induced by EtOH exposure can be revealed by water diffusion anisotropy patterns, and that these disruptions are directly related to cerebral cortical differentiation. PMID:23921100

Leigland, Lindsey A; Budde, Matthew D; Cornea, Anda; Kroenke, Christopher D

2013-12-01

269

Minor Components in the Sex Pheromone of Legume Podborer: Maruca vitrata Development of an Attractive Blend  

Microsoft Academic Search

The legume podborer, Maruca vitrata (syn. M. testulalis) (F.) (Lepidoptera: Pyralidae) is a pantropical pest of legume crops. Sex pheromone was collected by gland extraction or trapping of volatiles from virgin female moths originating in India, West Africa, or Taiwan. Analysis by GC-EAG and GC-MS confirmed previously published findings that (E,E)-10,12- hexadecadienal is the most abundant EAG-active component with 2–5%

M. C. A. Downham; D. R. Hall; D. J. Chamberlain; A. Cork; D. I. Farman; M. Tamò; D. Dahounto; B. Datinon; S. Adetonah

2003-01-01

270

A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse  

PubMed Central

Human cortical malformations, including lissencephaly, polymicrogyria and other diseases of neurodevelopment, have been associated with mutations in microtubule subunits and microtubule-associated proteins. Here we report our cloning of the brain dimple (brdp) mouse mutation, which we recovered from an ENU screen for recessive perinatal phenotypes affecting neurodevelopment. We identify the causal mutation in the tubulin, beta-2b (Tubb2b) gene as a missense mutation at a highly conserved residue (N247S). Brdp/brdp homozygous mutants have significant thinning of the cortical epithelium, which is markedly more severe in the caudo-lateral portion of the telencephalon, and do not survive past birth. The cortical defects are largely due to a major increase in apoptosis and we note abnormal proliferation of the basal progenitors. Adult brdp/+ mice are viable and fertile but exhibit behavioral phenotypes. This allele of Tubb2b represents the most severely affected mouse tubulin phenotype reported to date and this is the first report of a tubulin mutation affecting neuronal proliferation and survival. PMID:23727838

Stottmann, R.W.; Donlin, M.; Hafner, A.; Bernard, A.; Sinclair, D.A.; Beier, D.R.

2013-01-01

271

Sex-dimorphic behaviour development in the human: prenatal hormone administration and postnatal socialization.  

PubMed

An interdisciplinary integrative approach must be utilized in the study of psychosexual differentiation. The approach must capitalize on data derived from non-human models, from experiments of nature, and from experiments of nurture. Studies from non-human primates strongly suggest the influence of prenatal sex hormone levels on postnatal sexually dimorphic behaviours. Starting from this basis we have studied sixty young adult men whose mothers received, during pregnancy, diethylstilboestrol, diethylstilboestrol and natural progesterone, natural progesterone, or synthetic progesterone. They have been compared with matched controls not exposed in utero to exogenous hormones. Studies of socialization patterns must document the differential developmental experiences, if any, of children with atypical and typical sex-typed behaviours. To this end, we are studying 60 boys whose behaviour before puberty was decidedly feminine, and their parents, and contrasting them with masculine boys and their parents. We are also studying 50 girls whose behaviour before puberty was 'masculine', and contrasting them with 'feminine' girls. Additionally, we are studying the sexually dimorphic behaviour of children of sexually atypical parents. The parents have either undergone sex-change surgery (male-to-female or female-to-male) or are homosexual. Data from the three studies are presented. A call is made to researchers working with non-human primates to test and extend these findings. PMID:256835

Green, R

272

Putting Prevention in Their Pockets: Developing Mobile Phone-Based HIV Interventions for Black Men Who Have Sex with Men  

PubMed Central

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

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

273

Sex-specific expression and localization of aromatase and its regulators during embryonic and larval development of Atlantic salmon.  

PubMed

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

von Schalburg, Kristian R; Gowen, Brent E; Messmer, Amber M; Davidson, William S; Koop, Ben F

2014-02-01

274

An Instrument to Measure Safer Sex Strategies Used by Male Sex Workers  

Microsoft Academic Search

Several studies have related safe sex in the commercial sex encounter to the ability of sex workers to apply specific safer sex strategies. However, no instrument has been previously available to measure these skills. The Safer-Sex Strategy Scale (SSS) was developed for such purposes. The psychometric properties (reliability and validity) were evaluated with a sample of sex workers recruited from

Rodrigo Mariño; Jan Browne; Victor Minichiello

2000-01-01

275

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

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

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

2014-05-01

276

Abnormal Uterine Bleeding  

MedlinePLUS

... abnormal uterine bleeding is caused by a hormone imbalance. When hormones are the problem, doctors call the ... bleeding, or DUB. Abnormal bleeding caused by hormone imbalance is more common in teenagers or in women ...

277

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 ...

278

Risk of developing multimorbidity across all ages in an historical cohort study: differences by sex and ethnicity  

PubMed Central

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

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

279

Expression patterns of sex-determination genes in single male and female embryos of two Bactrocera fruit fly species during early development.  

PubMed

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

Morrow, J L; Riegler, M; Frommer, M; Shearman, D C A

2014-12-01

280

Long-Term Evaluation of Patients Undergoing Genitoplasty due to Disorders of Sex Development: Results from a 14-Year Follow-Up  

PubMed Central

Purpose. To summarize the experience in treating patients with genitoplasty due to disorders of sex development in China. Methods. The operative procedures, gender of rearing, surgical outcome, and psychosocial and family adjustments of 262 patients were reviewed retrospectively. Results. At initial diagnosis, the mean age was 14.3 ± 2.8 years (range: 2–38 years). There were 96 children, 133 adolescents, and 33 adults. Follow-up was done every 6 months. Patients with female sex assignment had no urinary incontinence or voiding difficulty. Five patients underwent the second surgery (3%); vaginal dilation was performed in 35 patients with postoperative vaginal stenosis; 12 patients (7.4%) were unsatisfactory with the outcome. For patients with male sex assignment, the median length of penis was 2.2?cm in prepubertal patients, 4.2?cm in pubertal patients, and 5.0?cm in adults; 39 patients developed postvoid dribbling (39%); 21 patients underwent a second surgery (21%); urethral dilation was done in 28 patients (28%) due to urethral stricture; 38 patients were unsatisfactory with the outcome (38%). In addition, 136 patients (83%) with female sex assignment and 54 (54%) with male sex assignment had favorable psychosocial adjustment. Conclusions. Patients with male sex assignment have more surgical complications and difficulties in psychosocial adjustment as compared to those with female sex assignment. PMID:24376381

Zhang, Heng; Pan, Jinhong; Ji, Huixiang; Wang, Yongquan; Shen, Wenhao; Liu, Limei; Lu, Gensheng; Zhou, Zhansong

2013-01-01

281

The Development of Aggression During Adolescence: Sex Differences in Trajectories of Physical and Social Aggression Among Youth in Rural Areas  

Microsoft Academic Search

To describe trajectories of aggressive behaviors for adolescents living in rural areas, we compared the patterns, timing and\\u000a sex differences in development of physical and social aggression using five waves of data collected from youth in school surveys\\u000a administered over 2.5 years. The sample (N?=?5,151) was 50.0% female, 52.1% Caucasian and 38.2% African-American. Multilevel growth curve models showed that physical\\u000a and

Katherine J. Karriker-Jaffe; Vangie A. Foshee; Susan T. Ennett; Chirayath Suchindran

2008-01-01

282

Neurodevelopmental Abnormalities in ADHD  

PubMed Central

Structural and functional imaging studies in subjects with attention deficit hyperactivity disorder (ADHD) are reviewed with the goal of gleaning information about neurodevelopmental abnormalities characterizing the disorder. Structural imaging studies, particularly those with longitudinal designs, suggest that brain maturation is delayed by a few years in ADHD. However, a maturational delay model alone is incomplete: alternate courses are suggested by differences associated with phenotypic factors, such as symptom remission/persistence and exposure to stimulant treatment. Findings from functional imaging studies point to multiple loci of abnormalities that are not limited to frontal–striatal circuitry, which is important for executive and motivational function, but also include parietal, temporal and motor cortices, and the cerebellum. However, a definitive conclusion about maturational delays or alternate trajectories cannot be drawn from this work as activation patterns are influenced by task-specific factors that may induce variable performance levels and strategies across development. In addition, no studies have implemented cross-sectional or longitudinal designs, without which the developmental origin of differences in activation cannot be inferred. Thus, current task-evoked functional imaging provides information about dynamic or state-dependent differences rather than fixed or trait-related differences. In the future, task-free functional imaging holds promise for revealing neurodevelopmental information that is minimally influenced by performance/strategic differences. Further, studies using longitudinal designs that identify sources of phenotypic heterogeneity in brain maturation and characterize the relationship between brain function and underlying structural properties are needed to provide a comprehensive view of neurodevelopmental abnormalities in ADHD. PMID:21541845

Vaidya, Chandan J.

2012-01-01

283

Effects of bisphenol A on the development, growth, and sex ratio of the housefly Musca domestica.  

PubMed

The effects of bisphenol A (BPA) on the life cycle of the housefly Musca domestica were examined. The sex ratio of the imago shifted in favor of males when eggs and larvae were exposed to BPA in culture media at concentrations of 1,000 microg kg(-1) for five generations and 100 microg kg(-1) for seven generations. Notably, at an initial concentration of 100 microg kg(-1), BPA levels in the growth medium decreased 61% at 4 h after egg inoculation, and no BPA was detected after 24 h. Pupal weight increased upon exposure to 100 microg kg(-1) BPA but decreased after exposure to 1,000 microg kg(-1), suggesting highly variable concentration-dependent toxicity. Both the survival ratio of eggs to the third instar larval stage and the ratio of pupae to larvae decreased, indicating that BPA affected both eggs and larvae. A delay in the timing of emergence typically was observed in insects exposed to >100 microg kg(-1) BPA. Compared to the control group, juvenile hormones II and III levels were elevated significantly in larvae between days 4 and 7 in medium spiked with 100 microg kg(-1) BPA. These results suggest that exposure to environmentally relevant concentrations of BPA during the early stages of the housefly life cycle can result in various disorders (pupal weight and sex ratio) that may be a consequence of endocrine disruption. PMID:18211122

Izumi, Nanae; Yanagibori, Ryoko; Shigeno, Seiichi; Sajiki, Junko

2008-06-01

284

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

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…

Roisman, Glenn I.; Clausell, Eric; Holland, Ashley; Fortuna, Keren; Elieff, Chryle

2008-01-01

285

Sex Education with Young Children.  

ERIC Educational Resources Information Center

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…

Koblinsky, Sally; And Others

1980-01-01

286

Developmental stages and sex differences of white matter and behavioral development through adolescence: a longitudinal diffusion tensor imaging (DTI) study.  

PubMed

White matter (WM) continues to mature through adolescence in parallel with gains in cognitive ability. To date, developmental changes in human WM microstructure have been inferred using analyses of cross-sectional or two time-point follow-up studies, limiting our understanding of individual developmental trajectories. The aims of the present longitudinal study were to characterize the timing of WM growth and investigate how sex and behavior are associated with different developmental trajectories. We utilized diffusion tensor imaging (DTI) in 128 individuals aged 8-28, who received annual scans for up to 5 years and completed motor and cognitive tasks. Flexible nonlinear growth curves indicated a hierarchical pattern of WM development. By late childhood, posterior cortical-subcortical connections were similar to adults. During adolescence, WM microstructure reached adult levels, including frontocortical, frontosubcortical and cerebellar connections. Later to mature in adulthood were major corticolimbic association tracts and connections at terminal gray matter sites in cortical and basal ganglia regions. These patterns may reflect adolescent maturation of frontal connectivity supporting cognitive abilities, particularly the protracted refinement of corticolimbic connectivity underlying cognition-emotion interactions. Sex and behavior also played a large role. Males showed continuous WM growth from childhood through early adulthood, whereas females mainly showed growth during mid-adolescence. Further, earlier WM growth in adolescence was associated with faster and more efficient responding and better inhibitory control whereas later growth in adulthood was associated with poorer performance, suggesting that the timing of WM growth is important for cognitive development. PMID:24384150

Simmonds, Daniel J; Hallquist, Michael N; Asato, Miya; Luna, Beatriz

2014-05-15

287

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP  

PubMed Central

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

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

288

Mitochondria DNA mutations cause sex-dependent development of hypertension and alterations in cardiovascular function.  

PubMed

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

Golob, Mark J; Tian, Lian; Wang, Zhijie; Zimmerman, Todd A; Caneba, Christine A; Hacker, Timothy A; Song, Guoqing; Chesler, Naomi C

2015-02-01

289

Expression of Putative Sex-Determining Genes during the Thermosensitive Period of Gonad Development in the Snapping Turtle, Chelydra serpentina  

Microsoft Academic Search

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

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

2007-01-01

290

Cytological sexing of cetacea  

Microsoft Academic Search

A biopsy dart, that can be shot from a gun or crossbow, was developed to obtain skin of whales at sea. Determination of sex was found possible by staining and locating sex chromatin bodies in the nuclei of female skin cells. This procedure will be useful in many types of field studies on whales.

H. E. Winn; W. L. Bischoff; A. G. Taruski

1973-01-01

291

The Role of Chronic Hypoxia in the Development of Neurocognitive Abnormalities in Preterm Infants with Bronchopulmonary Dysplasia  

ERIC Educational Resources Information Center

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,…

Raman, Lakshmi; Georgieff, Michael K.; Rao, Raghavendra

2006-01-01

292

Middle-aged Japanese women are resistant to obesity-related metabolic abnormalities  

Microsoft Academic Search

We attempted to determine sex differences in obesity-related metabolic abnormalities in a relatively large middle-aged Japanese population. The study population consisted of 2935 men and 1622 women who were 35 to 59 years old. Metabolic abnormalities were determined using the Japanese criteria for metabolic syndrome, and we evaluated the number of metabolic abnormalities discriminated by waist circumference. In men, the

Masaru Sakurai; Toshinari Takamura; Katsuyuki Miura; Shuichi Kaneko; Hideaki Nakagawa

2009-01-01

293

Sex Hormones and Immune Dimorphism  

PubMed Central

The functioning of the immune system of the body is regulated by many factors. The abnormal regulation of the immune system may result in some pathological conditions. Sex hormones of reproductive system are one of the major factors that regulate immune system due to the presence of hormone receptors on immune cells. The interaction of sex hormones and immune cells through the receptors on these cells effect the release of cytokines which determines the proliferation, differentiation, and maturation of different types of immunocytes and as a result the outcome of inflammatory or autoimmune diseases. The different regulations of sex hormones in both sexes result in immune dimorphism. In this review article the mechanism of regulation of immune system in different sexes and its impact are discussed. PMID:25478584

Bhatia, Aruna; Sekhon, Harmandeep Kaur; Kaur, Gurpreet

2014-01-01

294

Abnormalities of sexual development in male rats with in utero and lactational exposure to the antiandrogenic plasticizer Di(2-ethylhexyl) phthalate.  

PubMed Central

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

Moore, R W; Rudy, T A; Lin, T M; Ko, K; Peterson, R E

2001-01-01

295

Developmental Genetics of the Drosophila Egg I. Identification of 59 Sex-Linked Cistrons with Maternal Effects on Embryonic Development  

PubMed Central

Sex-linked mutations to recessive female sterility were induced, sorted for egg-laying, mapped within broad regions and grouped by complementation tests into cistrons. The mutations have also been partially characterized for their temperature sensitivity and pleiotropic effects. Altogether 59 cistrons have been identified, including five allelic with previously known loci: cin, fs(1)N, mk, sn, and r. All of the genes make maternal contributions to developing embryos. In some instances mutant defects are recognized in the egg envelopes; in the remainder the defects are presumably in the egg cytoplasm. For mutations in twenty-two genes, including cin, mk, and r alleles, the lethality of the maternal effect is reversed and the embryo is "rescued" by the action of a wild-type, paternal allele. The mutant strains are potentially important for the study of developing egg envelopes and for furthering the analysis of causation in embryogenesis and its origins in oogenesis. PMID:405273

Mohler, J. Dawson

1977-01-01

296

Transgenic mice overexpressing the mouse homoeobox-containing gene Hox-1.4 exhibit abnormal gut development  

Microsoft Academic Search

The mouse homoeobox-containing genes exhibit temporally and spatially specific patterns of expression in embryonic and adult tissues and are thought to be important in regulation of development and cellular differentiation, perhaps by mechanisms analogous to homoeotic genes in Drosophila melanogaster 1-4. There has been no direct demonstration that expression of these mammalian genes can affect developmental processes, however. Hox-1.4, like

Debra J. Wolgemuth; Richard R. Behringer; Margaret P. Mostoller; Ralph L. Brinster; Richard D. Palmiter

1989-01-01

297

A theoretical approach for assessing the role of rock and fluid properties in the development of abnormal fluid pressures  

E-print Network

to show the potential role that rock properties play in the development of aquathermal pressures. It was found that thermal pressures can be significantly reduced in sot't rocks such as shales which expand both elastical ly and thermally to accomodate... of the fluid properties. An analytical excess pressure basin model modified from a model first set forth by Bredehoeft and Hanshaw (196B) was used to show that aquathermal pressures can be maintained under conditions of fluid flow in both sandstones...

Hastings, Thomas Worcester

1985-01-01

298

Sex Chromosome  

NSDL National Science Digital Library

A sex chromosome is one of the two chromosomes that specify an organism's genetic sex. Humans have two kinds of sex chromosomes, one called X and the other Y. Normal females possess two X chromosomes and normal males one X and one Y.

Darryl Leja (National Human Genome Research Institute REV)

2005-04-14

299

Forebrain-specific CRF overproduction during development is sufficient to induce enduring anxiety and startle abnormalities in adult mice.  

PubMed

Corticotropin releasing factor (CRF) regulates physiological and behavioral responses to stress. Trauma in early life or adulthood is associated with increased CRF in the cerebrospinal fluid and heightened anxiety. Genetic variance in CRF receptors is linked to altered risk for stress disorders. Thus, both heritable differences and environmentally induced changes in CRF neurotransmission across the lifespan may modulate anxiety traits. To test the hypothesis that CRF hypersignaling is sufficient to modify anxiety-related phenotypes (avoidance, startle, and conditioned fear), we induced transient forebrain-specific overexpression of CRF (CRFOE) in mice (1) during development to model early-life stress, (2) in adulthood to model adult-onset stress, or (3) across the entire postnatal lifespan to model heritable increases in CRF signaling. The consequences of these manipulations on CRF peptide levels and behavioral responses were examined in adulthood. We found that transient CRFOE during development decreased startle habituation and prepulse inhibition, and increased avoidance (particularly in females) recapitulating the behavioral effects of lifetime CRFOE despite lower CRF peptide levels at testing. In contrast, CRFOE limited to adulthood reduced contextual fear learning in females and increased startle reactivity in males but did not change avoidance or startle plasticity. These findings suggest that forebrain CRFOE limited to development is sufficient to induce enduring alterations in startle plasticity and anxiety, while forebrain CRFOE during adulthood results in a different phenotype profile. These findings suggest that startle circuits are particularly sensitive to forebrain CRFOE, and that the impact of CRFOE may be dependent on the time of exposure. PMID:24326400

Toth, Mate; Gresack, Jodi E; Bangasser, Debra A; Plona, Zach; Valentino, Rita J; Flandreau, Elizabeth I; Mansuy, Isabelle M; Merlo-Pich, Emilio; Geyer, Mark A; Risbrough, Victoria B

2014-05-01

300

[A boy with nail abnormalities].  

PubMed

A 12-year-old boy consulted the dermatologist for nail abnormalities. Three weeks earlier, he was treated with doxycycline 100 mg BID for 10 days because of erythema chronicum migrans. Following sun exposure, the patient had developed distal onycholysis surrounded by a hyperpigmented zone. He was diagnosed with doxycycline-induced photo-onycholysis. PMID:23838405

Atiq, Nasirah; van Meurs, Tim

2013-01-01

301

Abnormalities of the optic disc  

Microsoft Academic Search

The optic disc represents the anterior end of the optic nerve, the most forward extension of the central nervous system (CNS). The optic disc gives a rare glimpse into the CNS. Hence, diseases of the CNS are often manifested on fundus examination. Abnormalities of the optic disc may reflect eye disease (such as glaucoma), problems in development (as in various

Alfredo A. Sadun; Michelle Y. Wang

2011-01-01

302

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 ...

303

Conditional ablation of Tbr2 results in abnormal development of the olfactory bulbs and subventricular zone-rostral migratory stream  

PubMed Central

Background Development of the olfactory bulb (OB) is a complex process that requires contributions from several progenitor cell niches to generate neuronal diversity. Previous studies showed that Tbr2 is expressed during the generation of glutamatergic OB neurons in rodents. However, relatively little is known about the role of Tbr2 in the developing OB or in the subventricular zone-rostral migratory stream (SVZ-RMS) germinal niche that gives rise to many OB neurons. Results Here, we use conditional gene ablation strategies to knockout Tbr2 during embryonic mouse olfactory bulb morphogenesis, as well as during perinatal and adult neurogenesis from the SVZ-RMS niche, and describe the resulting phenotypes. We find that Tbr2 is important for the generation of mitral cells in the OB, and that the olfactory bulbs themselves are hypoplastic and disorganized in Tbr2 mutant mice. Furthermore, we show that the SVZ-RMS niche is expanded and disordered following loss of Tbr2, which leads to ectopic accumulation of neuroblasts in the RMS. Lastly, we show that adult glutamatergic neurogenesis from the SVZ is impaired by loss of Tbr2. Conclusions Tbr2 is essential for proper morphogenesis of the OB and SVZ-RMS, and is important for the generation of multiple lineages of glutamatergic olfactory bulb neurons. PMID:24550175

Kahoud, Robert J.; Elsen, Gina E.; Hevner, Robert F.; Hodge, Rebecca D.

2014-01-01

304

Complex patterns of abnormal heartbeats  

NASA Technical Reports Server (NTRS)

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.

Schulte-Frohlinde, Verena; Ashkenazy, Yosef; Goldberger, Ary L.; Ivanov, Plamen Ch; Costa, Madalena; Morley-Davies, Adrian; Stanley, H. Eugene; Glass, Leon

2002-01-01

305

Abnormal development of NG2+PDGFR?+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model  

PubMed Central

Hydrocephalus is a common neurological disorder leading to expansion of the cerebral ventricles and is associated with significant morbidity and mortality. Most neonatal cases are of unknown etiology and are likely to display complex inheritance involving multiple genes and environmental factors. Identifying molecular mechanisms for neonatal hydrocephalus and developing non-invasive treatment modalities are high priorities. Here we employ a hydrocephalic mouse model of the human ciliopathy Bardet-Biedl Syndrome (BBS) and identify a role for neural progenitors in the pathogenesis of neonatal hydrocephalus. We found that hydrocephalus in this mouse model is caused by aberrant PDGFR? signaling, resulting in increased apoptosis and impaired proliferation of NG2+PDGFR?+ neural progenitors. Targeting this pathway with lithium treatment rescued NG2+PDGFR?+ progenitor cell proliferation in BBS mutant mice, reducing ventricular volume. Our findings demonstrate that neural progenitors are critical in the pathogenesis of neonatal hydrocephalus and we identify novel therapeutic targets for this common neurological disorder. PMID:23160237

Carter, Calvin S.; Vogel, Timothy W.; Zhang, Qihong; Seo, Seongjin; Swiderski, Ruth E.; Moninger, Thomas O.; Cassell, Martin D.; Thedens, Daniel R.; Keppler-Noreuil, Kim M.; Nopoulos, Peggy; Nishimura, Darryl Y.; Searby, Charles C.; Bugge, Kevin; Sheffield, Val C.

2012-01-01

306

Abnormal pituitary development and function in three siblings of a Jamaican family: A new syndrome involving the Pit-1 gene  

SciTech Connect

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.

Sanchez, J.C.; Schiavi, A. [Univ. of Miami, FL (United States); Parks, J. [Emory Univ., Atlanta, GA (United States)] [and others

1994-09-01

307

Abnormal differentiation of dopaminergic neurons in zebrafish trpm7 mutant larvae impairs development of the motor pattern  

PubMed Central

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

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

308

Abnormal differentiation of dopaminergic neurons in zebrafish trpm7 mutant larvae impairs development of the motor pattern.  

PubMed

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

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

309

Ectopic expression of an apple apomixis-related gene MhFIE induces co-suppression and results in abnormal vegetative and reproductive development in tomato.  

PubMed

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

Liu, Dan-Dan; Dong, Qing-Long; Fang, Mou-Jing; Chen, Ke-Qin; Hao, Yu-Jin

2012-12-15

310

Abnormal mineralization of the Ts65Dn Down syndrome mouse appendicular skeleton begins during embryonic development in a Dyrk1a-independent manner.  

PubMed

The relationship between gene dosage imbalance and phenotypes associated with Trisomy 21, including the etiology of abnormal bone phenotypes linked to Down syndrome (DS), is not well understood. The Ts65Dn mouse model for DS exhibits appendicular skeletal defects during adolescence and adulthood but the developmental and genetic origin of these phenotypes remains unclear. It is hypothesized that the postnatal Ts65Dn skeletal phenotype originates during embryonic development and results from an increased Dyrk1a gene copy number, a gene hypothesized to play a critical role in many DS phenotypes. Ts65Dn embryos exhibit a lower percent bone volume in the E17.5 femur when compared to euploid embryos. Concomitant with gene copy number, qPCR analysis revealed a ?~1.5 fold increase in Dyrk1a transcript levels in the Ts65Dn E17.5 embryonic femur as compared to euploid. Returning Dyrk1a copy number to euploid levels in Ts65Dn, Dyrk1a(+/-) embryos did not correct the trisomic skeletal phenotype but did return Dyrk1a gene transcript levels to normal. The size and protein expression patterns of the cartilage template during embryonic bone development appear to be unaffected at E14.5 and E17.5 in trisomic embryos. Taken together, these data suggest that the dosage imbalance of genes other than Dyrk1a is involved in the development of the prenatal bone phenotype in Ts65Dn embryos. PMID:25556111

Blazek, Joshua D; Malik, Ahmed M; Tischbein, Maeve; Arbones, Maria L; Moore, Clara S; Roper, Randall J

2015-05-01

311

Abnormal development of the intercostal muscles and the rib cage in Myf5-/- embryos leads to pulmonary hypoplasia.  

PubMed

The aim of our study was to investigate the importance of pulmonary distension and fetal breathing-like movements executed by the contractile activity of the intercostal respiratory muscles for proper lung growth and maturation. Lung development in Myf5-/- embryos, lacking the rib cage and functional intercostal musculature, was compared with wild-type controls at embryonic days 14.5, 16.5, and 18.5. Our data revealed that Myf5-/- embryos suffered from pulmonary hypoplasia in part due to the decreased number of proliferating lung cells and in part due to the increased number of terminal deoxynucleotidyl transferase mediated dUTP nick end labeling (TUNEL) -positive cells. In addition, the proximal-to-distal expression gradient of thyroid transcription factor-1 observed in wild-type embryos was not maintained in Myf5-/- embryos. The number of lung cells expressing platelet-derived growth factor-BB, its receptor and insulin growth factor-I was significantly decreased in the hypoplastic lung. By contrast, no difference in the expression pattern of surfactant associated proteins or Clara cells marker was detected between wild-type and Myf5-/- embryos. Collectively, our data suggest that the mechanochemical signal transduction pathway used in vitro is also effective in vivo influencing lung growth but not lung cell maturation and resulting in lung hypoplasia. These data affirm the role of fetal breathing-like movements in lung organogenesis. PMID:15580568

Inanlou, Mohammad Reza; Kablar, Boris

2005-01-01

312

Defective Peripheral Nerve Development Is Linked to Abnormal Architecture and Metabolic Activity of Adipose Tissue in Nscl-2 Mutant Mice  

PubMed Central

Background In mammals the interplay between the peripheral nervous system (PNS) and adipose tissue is widely unexplored. We have employed mice, which develop an adult onset of obesity due to the lack the neuronal specific transcription factor Nscl-2 to investigate the interplay between the nervous system and white adipose tissue (WAT). Methodology Changes in the architecture and innervation of WAT were compared between wildtype, Nscl2?/?, ob/ob and Nscl2?/?//ob/ob mice using morphological methods, immunohistochemistry and flow cytometry. Metabolic alterations in mutant mice and in isolated cells were investigated under basal and stimulated conditions. Principal Findings We found that Nscl-2 mutant mice show a massive reduction of innervation of white epididymal and paired subcutaneous inguinal fat tissue including sensory and autonomic nerves as demonstrated by peripherin and neurofilament staining. Reduction of innervation went along with defects in the formation of the microvasculature, accumulation of cells of the macrophage/preadipocyte lineage, a bimodal distribution of the size of fat cells, and metabolic defects of isolated adipocytes. Despite a relative insulin resistance of white adipose tissue and isolated Nscl-2 mutant adipocytes the serum level of insulin in Nscl-2 mutant mice was only slightly increased. Conclusions We conclude that the reduction of the innervation and vascularization of WAT in Nscl-2 mutant mice leads to the increase of preadipocyte/macrophage-like cells, a bimodal distribution of the size of adipocytes in WAT and an altered metabolic activity of adipocytes. PMID:19436734

Ruschke, Karen; Ebelt, Henning; Klöting, Nora; Boettger, Thomas; Raum, Kay; Blüher, Matthias; Braun, Thomas

2009-01-01

313

Abnormal development of NG2+PDGFR-?+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model.  

PubMed

Hydrocephalus is a common neurological disorder that leads to expansion of the cerebral ventricles and is associated with a high rate of morbidity and mortality. Most neonatal cases are of unknown etiology and are likely to have complex inheritance involving multiple genes and environmental factors. Identifying molecular mechanisms for neonatal hydrocephalus and developing noninvasive treatment modalities are high priorities. Here we use a hydrocephalic mouse model of the human ciliopathy Bardet-Biedl Syndrome (BBS) and identify a role for neural progenitors in the pathogenesis of neonatal hydrocephalus. We found that hydrocephalus in this mouse model is caused by aberrant platelet-derived growth factor receptor ? (PDGFR-?) signaling, resulting in increased apoptosis and impaired proliferation of chondroitin sulfate proteoglycan 4 (also known as neuron-glial antigen 2 or NG2)(+)PDGFR-?(+) neural progenitors. Targeting this pathway with lithium treatment rescued NG2(+)PDGFR-?(+) progenitor cell proliferation in BBS mutant mice, reducing their ventricular volume. Our findings demonstrate that neural progenitors are crucial in the pathogenesis of neonatal hydrocephalus, and we identify new therapeutic targets for this common neurological disorder. PMID:23160237

Carter, Calvin S; Vogel, Timothy W; Zhang, Qihong; Seo, Seongjin; Swiderski, Ruth E; Moninger, Thomas O; Cassell, Martin D; Thedens, Daniel R; Keppler-Noreuil, Kim M; Nopoulos, Peggy; Nishimura, Darryl Y; Searby, Charles C; Bugge, Kevin; Sheffield, Val C

2012-12-01

314

Assessment of electron beam-induced abnormal development and DNA damage in Spodoptera litura (F.) (Lepidoptera: Noctuidae)  

NASA Astrophysics Data System (ADS)

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.

Yun, Seung-Hwan; Lee, Seon-Woo; Koo, Hyun-Na; Kim, Gil-Hah

2014-03-01

315

Girls' sexual development in the inner city: from compelled childhood sexual contact to sex-for-things exchanges.  

PubMed

Child Sexual Abuse (CSA) has been linked to a wide variety of adverse psychological and behavioral outcomes. This paper describes girls' sexual development in the inner city based on qualitative material from a long-term ethnographic (observational) study. For many inner-city girls, early and then continued experiences of being compelled to have sex were found to be part of a pathway leading to independent sexuality that often involved prostitution, teen pregnancy, early motherhood, school dropout, limited involvement with jobs, drug abuse, multiple children by different fathers and single-parent families. Quotes from respondents illustrate the mechanics of this process and how it is sustained by the deprivations of structural disadvantage, prevailing subcultural norms, violence and illicit drug use. PMID:15105084

Dunlap, Eloise; Golub, Andrew; Johnson, Bruce D

2003-01-01

316

Minor components in the sex pheromone of legume podborer: Maruca vitrata development of an attractive blend.  

PubMed

The legume podborer, Maruca vitrata (syn. M. testulalis) (F.) (Lepidoptera: Pyralidae) is a pantropical pest of legume crops. Sex pheromone was collected by gland extraction or trapping of volatiles from virgin female moths originating in India, West Africa, or Taiwan. Analysis by GC-EAG and GC-MS confirmed previously published findings that (E,E)-10,12-hexadecadienal is the most abundant EAG-active component with 2-5% of (E,E)-10,12-hexadecadienol also present. At least one other EAG response was detected at retention times typical of monounsaturated hexadecenals or tetradecenyl acetates, but neither could be detected by GC-MS. Laboratory wind-tunnel bioassays and a field bioassay of blends of (E,E)-10,12-hexadecadienal with (E,E )-10,12-hexadecadienol and a range of monounsaturated hexadecenal and tetradecenyl acetate isomers indicated greatest attraction of males was to those including (E,E)-10,12-hexadecadienol and (E)-10-hexadecenal as minor components. In subsequent trapping experiments in cowpea fields in Benin, traps baited with a three-component blend of (E,E)-10,12-hexadecadienal and these two minor components in a 100:5:5 ratio caught significantly more males than traps baited with the major component alone, either two-component blend, or virgin female moths. Further blend optimization experiments did not produce a more attractive blend. No significant differences in catches were found between traps baited with polyethylene vials or rubber septa, or between lures containing 0.01 and 0.1 mg of synthetic pheromone. Significant numbers of female M. vitrata moths, up to 50% of total catches, were trapped with synthetic blends but not with virgin females. At present there is no clear explanation for this almost unprecedented finding, but the phenomenon may improve the predictive power of traps for population monitoring. PMID:12775157

Downham, M C A; Hall, D R; Chamberlain, D J; Cork, A; Farman, D I; Tamò, M; Dahounto, D; Datinon, B; Adetonah, S

2003-04-01

317

Development, genetic and cytogenetic analyses of genetic sexing strains of the Mexican fruit fly, Anastrepha ludens Loew (Diptera: Tephritidae)  

PubMed Central

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

2014-01-01

318

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 ...

319

Disruption of the gene encoding the latent transforming growth factor-? binding protein 4 (LTBP-4) causes abnormal lung development, cardiomyopathy, and colorectal cancer  

PubMed Central

Transforming growth factor-?s (TGF-?s) are multifunctional growth factors that are secreted as inactive (latent) precursors in large protein complexes. These complexes include the latency-associated propeptide (LAP) and a latent transforming growth factor-? binding protein (LTBP). Four isoforms of LTBPs (LTBP-1–LTBP-4) have been cloned and are believed to be structural components of connective tissue microfibrils and local regulators of TGF-? tissue deposition and signaling. By using a gene trap strategy that selects for integrations into genes induced transiently during early mouse development, we have disrupted the mouse homolog of the human LTBP-4 gene. Mice homozygous for the disrupted allele develop severe pulmonary emphysema, cardiomyopathy, and colorectal cancer. These highly tissue-specific abnormalities are associated with profound defects in the elastic fiber structure and with a reduced deposition of TGF-? in the extracellular space. As a consequence, epithelial cells have reduced levels of phosphorylated Smad2 proteins, overexpress c-myc, and undergo uncontrolled proliferation. This phenotype supports the predicted dual role of LTBP-4 as a structural component of the extracellular matrix and as a local regulator of TGF-? tissue deposition and signaling. PMID:12208849

Sterner-Kock, Anja; Thorey, Irmgard S.; Koli, Katri; Wempe, Frank; Otte, Jürgen; Bangsow, Thorsten; Kuhlmeier, Katharina; Kirchner, Thomas; Jin, Shenchu; Keski-Oja, Jorma; von Melchner, Harald

2002-01-01

320

Lipid abnormalities in uremia, dialysis, and transplantation  

Microsoft Academic Search

The institution of renal replacement therapy has sustained the lives of many patients with end-stage renal failure and has made it possible to study in depth the metabolic abnormalities associated with the uremic state. An important consequence of chronic uremia is the development of lipid abnormalities [1, 2], which continue to affect many patients on dialysis [1, 3, 4] and

Man Kam Chan; Zachariah Varghese; John F Moorhead

1981-01-01

321

Renal abnormalities and their developmental origin  

Microsoft Academic Search

Congenital abnormalities of the kidney and urinary tract (CAKUT) occur in 1 out of 500 newborns, and constitute approximately 20–30% of all anomalies identified in the prenatal period. CAKUT has a major role in renal failure, and there is increasing evidence that certain abnormalities predispose to the development of hypertension and cardiovascular disease in adult life. Moreover, defects in nephron

Andreas Schedl

2007-01-01

322

Male gametophyte development and two different DNA classes of pollen grains in Rumex acetosa L., a plant with an XX\\/XY 1 Y 2 sex chromosome system and a female-biased sex ratio  

Microsoft Academic Search

Female-biased sex ratio is an interesting phenomenon observed in Rumex acetosa, a dioecious plant with an XX\\/XY1Y2 sex chromosome system. Previous authors have suggested that the biased sex ratio in this species is conditioned not only\\u000a postzygotically (sex-differential sporophytic mortality) but also prezygotically, because the sex ratio of seeds is also female-biased,\\u000a although to a lesser extent than the sex

Magdalena B?ocka-Wandas; Elwira Sliwinska; Aleksandra Grabowska-Joachimiak; Krystyna Musial; Andrzej J. Joachimiak

2007-01-01

323

An unbiased approach to identify genes involved in development in a turtle with temperature-dependent sex determination  

PubMed Central

Background Many reptiles exhibit temperature-dependent sex determination (TSD). The initial cue in TSD is incubation temperature, unlike genotypic sex determination (GSD) where it is determined by the presence of specific alleles (or genetic loci). We used patterns of gene expression to identify candidates for genes with a role in TSD and other developmental processes without making a priori assumptions about the identity of these genes (ortholog-based approach). We identified genes with sexually dimorphic mRNA accumulation during the temperature sensitive period of development in the Red-eared slider turtle (Trachemys scripta), a turtle with TSD. Genes with differential mRNA accumulation in response to estrogen (estradiol-17?; E2) exposure and developmental stages were also identified. Results Sequencing 767 clones from three suppression-subtractive hybridization libraries yielded a total of 581 unique sequences. Screening a macroarray with a subset of those sequences revealed a total of 26 genes that exhibited differential mRNA accumulation: 16 female biased and 10 male biased. Additional analyses revealed that C16ORF62 (an unknown gene) and MALAT1 (a long noncoding RNA) exhibited increased mRNA accumulation at the male producing temperature relative to the female producing temperature during embryonic sexual development. Finally, we identified four genes (C16ORF62, CCT3, MMP2, and NFIB) that exhibited a stage effect and five genes (C16ORF62, CCT3, MMP2, NFIB and NOTCH2) showed a response to E2 exposure. Conclusions Here we report a survey of genes identified using patterns of mRNA accumulation during embryonic development in a turtle with TSD. Many previous studies have focused on examining the turtle orthologs of genes involved in mammalian development. Although valuable, the limitations of this approach are exemplified by our identification of two genes (MALAT1 and C16ORF62) that are sexually dimorphic during embryonic development. MALAT1 is a noncoding RNA that has not been implicated in sexual differentiation in other vertebrates and C16ORF62 has an unknown function. Our results revealed genes that are candidates for having roles in turtle embryonic development, including TSD, and highlight the need to expand our search parameters beyond protein-coding genes. PMID:22793670

2012-01-01

324

Sex-related long-term behavioral and hippocampal cellular alterations after nociceptive stimulation throughout postnatal development in rats.  

PubMed

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

Lima, Márcia; Malheiros, Jackeline; Negrigo, Aline; Tescarollo, Fabio; Medeiros, Magda; Suchecki, Deborah; Tannús, Alberto; Guinsburg, Ruth; Covolan, Luciene

2014-02-01

325

Maintenance of ancestral sex chromosomes in Palearctic tree frogs: direct evidence from Hyla orientalis.  

PubMed

Contrasting with the situation found in birds and mammals, sex chromosomes are generally homomorphic in poikilothermic vertebrates. This homomorphy was recently shown to result from occasional X-Y recombinations (not from turnovers) in several European species of tree frogs (Hyla arborea, H. intermedia and H. molleri). Because of recombination, however, alleles at sex-linked loci were rarely diagnostic at the population level; support for sex linkage had to rely on multilocus associations, combined with occasional sex differences in allelic frequencies. Here, we use direct evidence, obtained from anatomical and histological analyses of offspring with known pedigrees, to show that the Eastern tree frog (H. orientalis) shares the same pair of sex chromosomes, with identical patterns of male heterogamety and complete absence of X-Y recombination in males. Conservation of an ancestral pair of sex chromosomes, regularly rejuvenated via occasional X-Y recombination, seems thus a widespread pattern among Hyla species. Sibship analyses also identified discrepancies between genotypic and phenotypic sex among offspring, associated with abnormal gonadal development, suggesting a role for sexually antagonistic genes on the sex chromosomes. PMID:23735903

Stöck, M; Savary, R; Zaborowska, A; Górecki, G; Brelsford, A; Rozenblut-Ko?cisty, B; Ogielska, M; Perrin, N

2013-01-01

326

Dual roles of cyp19a1a in gonadal sex differentiation and development in the protandrous black porgy, Acanthopagrus schlegeli.  

PubMed

Protandrous black porgy fish, Acanthopagrus schlegeli, have a striking life cycle, with male sex differentiation at the juvenile stage, a bisexual gonad during first 2 yr of life, and a male-to-female sex change (with vitellogenic oocytes) at 3 yr of age. The present study investigated the role of aromatase (cyp19a1a/Cyp19a1a) in gonadal development in this species, especially in relation to sexual differentiation and sex change. Fish of various ages were treated with estradiol (E2) or aromatase inhibitor (AI) to determine whether manipulation of the hormonal environment has an impact on these processes. We report an integrative immunohistochemical, cellular, and molecular data set describing these interesting phenomena. During male sex differentiation, high levels of cyp19a1a/Cyp19a1a expression were observed in the undifferentiated gonad (4 mo of age), in marked contrast to the low cyp19a1a/Cyp19a1a levels detected in the differentiated testis at the age of 5-6 mo. A low dose of E2 (0.25 mg/kg feed) stimulated testicular growth and function in sexually differentiated fish, whereas a high dose of E2 (6 mg/kg feed) induced female development. Furthermore, administration of AI suppressed male development and promoted female sexual differentiation. An increased number of figla transcripts (an oocyte-specific gene) were observed prior to cyp19a1a expression, concomitant with the development of oogonia and early primary oocytes in the ovaries of both E2- and AI-treated groups. Immunohistochemical Pcna staining showed that the regression of testicular tissue occurred prior to the development of ovarian tissue in both E2- and AI-induced females. The importance of cyp19a1a in female development was further demonstrated by the increase in cyp19a1a transcripts during the naturally occurring sex change. Transcripts of foxl2 increased in the gonads of 2- to 3-yr-old black porgy during the early stages of the natural sex change, followed by a gradual elevation of cyp19a1a levels. The levels of both genes peaked in the resulting ovarian tissue. Thus, cyp19a1a/Cyp19a1a plays dual roles in the gonadal development, namely, in testicular development during the initial period of sexual differentiation and later in ovarian development during the natural sex change. PMID:18667752

Wu, Guan-Chung; Tomy, Sherly; Nakamura, Masaru; Chang, Ching-Fong

2008-12-01

327

Examination of Sex Differences in a Large Sample of Young Children with Autism Spectrum Disorder and Typical Development  

ERIC Educational Resources Information Center

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…

Reinhardt, Vanessa P.; Wetherby, Amy M.; Schatschneider, Christopher; Lord, Catherine

2015-01-01

328

New developments in osteoarthritis. Sex differences in magnetic resonance imaging-based biomarkers and in those of joint metabolism  

Microsoft Academic Search

ABSTRACT: Sex differences in the prevalence, incidence, and severity of osteoarthritis (OA) have long been known. Some differences in the evaluation of this issue across studies may be related to differences in study design, sampling, study size, study populations, targeted joint sites, and definitions of OA. This report highlights recent studies of sex differences in individual joint components imaged by

Mehrnaz Maleki-Fischbach; Joanne M Jordan

2010-01-01

329

An Action Research Project to Assess Middle School Educators' Professional Development Needs in Single-Sex Classrooms  

ERIC Educational Resources Information Center

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…

Simm, Lynnette Marie Gresham

2010-01-01

330

Focus on sex differences in grant applications submitted to the Netherlands Organization for Health Research and Development  

Microsoft Academic Search

BACKGROUND: Several measures have been implemented at international level to ensure that there is a greater focus on sex differences in health research. This study evaluates the effect of various formal incentives that were introduced by a Dutch financer of health research to encourage applicants to include sex differences in research proposals. METHODS: We sampled 213 health research proposals submitted

Debby G Keuken; Joke A Haafkens; Niek S Klazinga

2007-01-01

331

Partial Deletion of the NR5A1 (SF1) Gene Detected by Synthetic Probe MLPA in a Patient with XY Gonadal Disorder of Sex Development  

Microsoft Academic Search

Steroidogenic factor 1 (SF1, officially NR5A1) is a nuclear receptor involved in adrenal and gonadal development. NR5A1 mutations have been identified in patients with various forms of 46,XY disorders of sex development (DSD), including complete gonadal dysgenesis with or without adrenal insufficiency, mild testicular dysgenesis with ambiguous external genitalia or female external genitalia with clitoromegaly, and penoscrotal hypospadias. We developed

M. Barbaro; M. Cools; L. H. J. Looijenga; S. L. S. Drop; A. Wedell

2011-01-01

332

DEVELOPING ACTION THRESHOLDS FOR CODLING MOTH (LEPIDOPTERA: TORTRICIDAE) WITH PEAR ESTER AND CODLEMONE-BAITED TRAPS IN APPLE ORCHARDS TREATED WITH SEX PHEROMONE MATING DISRUPTION  

Technology Transfer Automated Retrieval System (TEKTRAN)

Traps baited with either ethyl (E, Z)-2, 4-decadienoate (pear ester) or (E, E)-8,10-dodecadienol (codlemone) were used to develop action thresholds for codling moth, Cydia pomonella (L.) (Lepidoptera: Tortricidae) in apple, Malus domestica Borkhausen (Rosaceae), orchards treated with sex pheromones....

333

The Effects of Depression and Stressful Life Events on the Development and Maintenance of Syndromal Social Anxiety: Sex and Age Differences  

Microsoft Academic Search

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 interval. No age

Tore Aune; Tore C. Stiles

2009-01-01

334

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

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,…

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

335

A cervical abnormalities risk prediction model: can we use clinical information to predict which patients with ASCUS/LSIL Pap tests will develop CIN2/3 or AIS?  

PubMed Central

Objective HPV infections and abnormal Pap tests are common, and most do not progress to cervical cancer. Since it is difficult to predict which mild Pap abnormalities will develop into precancerous lesions, many women undergo painful and costly evaluations, and even unnecessary treatment. The objective of this study was to develop a risk prediction model based on clinical and demographic information to identify women most likely to develop significant precancerous lesions (CIN2/3 or AIS) among women with mild Pap abnormalities (ASCUS/LSIL). Materials and Methods The Abnormal Pap Smear Registry includes women who received treatment at the Brigham and Women’s Hospital/Dana Farber Cancer Institute Pap Smear Evaluation Center beginning in 2006. It includes 1,072 women with mild cervical dysplasia (ASCUS or LSIL Pap tests) on their referral Pap test. We derived a clinical prediction model to predict the probability of developing CIN2/3 or AIS using multivariate logistic regression with a split-sample approach. Results By the end of follow-up, 93 of the 1,072 women developed CIN2/3 or AIS (8.7%). There were several differences between women who developed CIN2/3 or AIS and women who did not. However, once we put these into the regression model, the only variable that was significantly associated with CIN2/3 or AIS was having a prior history of an abnormal Pap or biopsy [OR=2.44, 95% CI (1.03 to 5.76)]. The resulting prediction model had poor discriminative ability and was poorly calibrated. Conclusions Despite accounting for known risk factors, we were unable to predict individual patients’ probability for progression on the basis of available data. PMID:23486071

Charlton, Brittany M.; Carwile, Jenny L.; Michels, Karin B.; Feldman, Sarah

2012-01-01

336

Predictors of Morphosyntactic Growth in Typically Developing Toddlers: Contributions of Parent Input and Child Sex  

ERIC Educational Resources Information Center

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:…

Hadley, Pamela A.; Rispoli, Matthew; Fitzgerald, Colleen; Bahnsen, Alison

2011-01-01

337

Let's Talk about Sex: Development of a Sexual Health Program for Nepali Women  

ERIC Educational Resources Information Center

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…

Kaufman, Michelle R.; Harman, Jennifer J.; Shrestha, Deepti Khati

2012-01-01

338

Sex, Literacy and Videotape: Learning, Identity and Language Development through Documentary Production with "Overage" Students  

ERIC Educational Resources Information Center

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…

Goodman, Steven

2010-01-01

339

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 ...

340

Sex, Drugs and STDs: Preliminary Findings from the Belfast Youth Development Study  

ERIC Educational Resources Information Center

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…

McAloney, Kareena; McCrystal, Patrick; Percy, Andrew

2010-01-01

341

Tooth - abnormal shape  

MedlinePLUS

... many different conditions. Specific diseases can affect tooth shape, tooth color, time of appearance, or absence of teeth. ... any medical conditions that may cause abnormal tooth shape? At what age ... spacing)? What other symptoms are also present? Fillings, ...

342

Abnormal Uterine Bleeding  

MedlinePLUS

... as cancer of the uterus, cervix, or vagina • Polycystic ovary syndrome How is abnormal bleeding diagnosed? Your health care ... before the fetus can survive outside the uterus. Polycystic Ovary Syndrome: A condition characterized by two of the following ...

343

Comparison of the effect of 'metabolically healthy but obese' and 'metabolically abnormal but not obese' phenotypes on development of diabetes and cardiovascular disease in Chinese.  

PubMed

The present study was designed to determine the prevalence of 'metabolically healthy but obese' (MHO) and 'metabolically abnormal but not obese' (MANO) phenotypes in Chinese population, and to investigate the association of these two phenotypes with the risk of diabetes and cardiovascular disease (CVD). A total of 2,764 subjects aged 30-90 were followed up over a mean period of 43.80 ± 11.25 months. The metabolic syndrome was defined according to the joint committee for developing Chinese guidelines on prevention and treatment of dyslipidemia in adults. Subjects with body fat percentage (BF %) >25 % for men or BF % >35 % for women were defined as being obese. The proportion of MHO and MANO phenotypes were 22.9, 7.6 % in men, and 26.2, 6.0 % in women, respectively. The MANO phenotype was associated with increased risk for diabetes both in men [hazard ratios (HR): 4.44 (1.21-16.26)] and women [HR: 8.68 (2.87-24.96)] after adjustment of age, serum total cholesterol (TC), triglycerides (TG), and family history of diabetes. This association held for CVD in women [HR: 2.87 (1.44-5.73)], but not in men after adjustment of age, serum TC, TG, and family history of CVD. No association was observed between the MHO phenotype and incident diabetes or CVD. MHO and MANO phenotypes are common in Chinese population. Metabolic risk factors appeared to play a more important role in the development of diabetes and CVD than body fat alone. PMID:25312689

Luo, Deng; Liu, Fang; Li, Xiaowen; Yin, Dechao; Lin, Ziwei; Liu, Hui; Hou, Xuhong; Wang, Chen; Jia, Weiping

2015-05-01

344

Multifinality in the Development of Personality Disorders: A Biology × Sex × Environment Interaction Model of Antisocial and Borderline Traits  

PubMed Central

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

Beauchaine, Theodore P.; Klein, Daniel N.; Crowell, Sheila E.; Derbidge, Christina; Gatzke-Kopp, Lisa

2009-01-01

345

Additional sex combs-like family genes are required for normal cardiovascular development.  

PubMed

Congenital heart disease (CHD) is the most common birth defect. However, the majority of CHD cases have unknown etiology. Here we report the identification of ASXL2 and ASXL1, two homologous chromatin factors, as novel regulators of heart development. Asxl2(-/-) fetuses have reduced body weight and display congenital heart malformations including thickened compact myocardium in the left ventricle, membranous ventricular septal defect, and atrioventricular valval stenosis. Although most Asxl2(-/-) animals survive to term, the neonates have patent ductus arteriosus and consequent lung hemorrhage and die soon after birth. Asxl1(-/-) fetuses have reduced body weight and display cleft palate, anophthalmia as well as ventricular septal defects and a failure in lung maturation. From these results, we conclude that normal heart development requires both ASXL proteins. In particular, ASXL2 plays an important role in heart morphogenesis and the transition from fetal to postnatal circulation. PMID:24860998

McGinley, Andrea L; Li, Yanyang; Deliu, Zane; Wang, Q Tian

2014-07-01

346

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

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.

Francis, R.; Schedl, T. [Washington Univ. School of Medicine, St. Louis, MO (United States); Maine, E. [Syracuse Univ., NY (United States)

1995-02-01

347

Sex moderates associations between prenatal glucocorticoid exposure and human fetal neurological development.  

PubMed

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

Glynn, Laura M; Sandman, Curt A

2012-09-01

348

Attitudes about Sex Selection and Sex Preference in Iranian Couples Referred for Sex Selection Technology  

PubMed Central

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

Ahmadi, Seyedeh Fatemeh; Shirzad, Mahdi; Kamali, Koorosh; Ranjbar, Fahimeh; Behjati-Ardakani, Zohreh; Akhondi, Mohammad Mehdi

2015-01-01

349

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

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 ?m) 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

Tian, Shuge; Liu, Wenxian; Liu, Feng; Zhang, Xuejia; Upur, Halmuart

2015-01-01

350

Sex education in Portugal.  

PubMed

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

Frade, A; Vilar, D

1991-05-01

351

UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development  

PubMed Central

It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional DSD team acts as the first point of contact. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be performed should be discussed with the parents and affected young person and tests undertaken in a timely fashion. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents are as fully informed as possible and have access to specialist psychological support. Finally, in the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration. PMID:21521344

Ahmed, S Faisal; Achermann, John C; Arlt, Wiebke; Balen, Adam H; Conway, Gerry; Edwards, Zoe L; Elford, Sue; Hughes, Ieuan A; Izatt, Louise; Krone, Nils; Miles, Harriet L; O'Toole, Stuart; Perry, Les; Sanders, Caroline; Simmonds, Margaret; Wallace, A Michael; Watt, Andrew; Willis, Debbie

2011-01-01

352

Developing a Conceptual Framework of Seroadaptive Behaviors in HIV-Diagnosed Men Who Have Sex With Men  

PubMed Central

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

Rönn, Minttu; White, Peter J.; Hughes, Gwenda; Ward, Helen

2014-01-01

353

Effect of temperature decrease on oocyte development, sex steroids, and gonadotropin ?-subunit mRNA expression levels in female Japanese eel Anguilla japonica  

Microsoft Academic Search

To improve understanding of the mechanism of early ovarian development in eels, the effects of water temperature decrease\\u000a on oocyte development, plasma levels of sex steroids [estradiol 17? (E2), testosterone (T), 11-ketotestosterone (11-KT)],\\u000a and gonadotropin ?-subunit [follicle-stimulating hormone (FSH?), luteinizing hormone (LH?)] messenger RNA (mRNA) expression\\u000a levels were investigated. A total of 27 female Japanese eels Anguilla japonica were divided

Ryusuke SudoRyota; Ryota Tosaka; Shigeho Ijiri; Shinji Adachi; Hiroaki Suetake; Yuzuru Suzuki; Noriyuki Horie; Satoru Tanaka; Jun Aoyama; Katsumi Tsukamoto

354

Biological assessment of abnormal genitalia.  

PubMed

Biological assessment of abnormal genitalia is based on an ordered sequence of endocrine and genetic investigations that are predicated on knowledge obtained from a suitable history and detailed examination of the external genital anatomy. Investigations are particularly relevant in 46,XY DSD where the diagnostic yield is less successful than in the 46,XX counterpart. Advantage should be taken of spontaneous activity of the pituitary-gonadal axis in early infancy rendering measurements of gonadotrophins and sex steroids by sensitive, validated assays key to assessing testicular function. Allied measurement of serum anti-Müllerian hormone completes a comprehensive testis profile of Leydig and Sertoli cell function. Genetic assessment is dominated by analysis of a plethora of genes that attempts to delineate a cause for gonadal dysgenesis. In essence, this is successful in up to 20% of cases from analysis of SRY and SF1 (NR5A1) genes. In contrast, gene mutation analysis is highly successful in 46,XY DSD due to defects in androgen synthesis or action. The era of next generation sequencing is increasingly being applied to investigate complex medical conditions of unknown cause, including DSD. The challenge for health professionals will lie in integrating vast amounts of genetic information with phenotypes and counselling families appropriately. How tissues respond to hormones is apposite to assessing the range of genital phenotypes that characterise DSD, particularly for syndromes associated with androgen resistance. In vitro methods are available to undertake quantitative and qualitative analysis of hormone action. The in vivo equivalent is some assessment of the degree of under-masculinisation in the male, such as an external masculinisation score, and measurement of the ano-genital distance. This anthropometric marker is effectively a postnatal readout of the effects of prenatal androgens acting during the masculinisation programming window. For investigation of the newborn with abnormal genitalia, a pragmatic approach can be taken to guide the clinician using appropriate algorithms. PMID:23168057

Hughes, I A; Morel, Y; McElreavey, K; Rogol, A

2012-12-01

355

Sex Offender Registration Information Sex Offender Registration  

E-print Network

Sex Offender Registration Information Sex Offender Registration In accordance to the "Campus Sex Police Sex Offender Registry. This act requires institutions of higher education to issue a statement sex offenders may be obtained. It also requires sex offenders already required to register in a State

Escher, Christine

356

Development, Sex Steroid Regulation, and Phenotypic Characterization of RFamide-Related Peptide (Rfrp) Gene Expression and RFamide Receptors in the Mouse Hypothalamus  

PubMed Central

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

Poling, Matthew C.; Kim, Joshua; Dhamija, Sangeeta

2012-01-01

357

Safe sex  

NSDL National Science Digital Library

There are many diseases that humans can contract through sexual contact with each other. Humans can lower their risk of contracting these diseases by practicing safe sex techniques if they choose to participate in those kinds of actions.

Olivia Worland (Purdue University; Biological Sciences)

2008-07-09

358

Sex work and sex trafficking.  

PubMed

Preventing HIV infection and other sexually transmitted diseases (STDs), as well as sexual and physical violence, are major occupational health and safety concerns for prostitutes. Considerable evidence shows that anti-prostitution laws facilitate violence and abuse against prostitutes and may increase their risk of contracting HIV/STDs. For example, police often take advantage of existing laws against prostitution to demand money or sex. In general, the strict enforcement of anti-prostitution laws marginalizes prostitutes from services which could help them avoid abuse and promotes an environment in which prostitutes must take risks to avoid detection and arrest. One strategy to improve prostitutes' lives would therefore be to remove laws which prevent them from working safely and from travelling abroad to work legally. Projects in which prostitutes are actively involved have helped break down stereotypes against prostitutes, while police-sex worker liaison projects in Scotland and Australia have led to higher levels of reporting of crimes against prostitutes. The Network of Sex Work Projects (NSWP), an organization which links sex worker health programs around the world, has found that the incidence of HIV/STDs among prostitutes is lowest when they have control over their work conditions; access to condoms, lubricants, and other safe sex materials; and respect of their basic human and legal rights. People need to understand that consensual involvement in sex work is different from forced sex trafficking. PMID:12348692

Ditmore, M; Saunders, P

1998-01-01

359

Does inbreeding distort sex-ratios?  

Microsoft Academic Search

Inbreeding is reputed to distort sex-ratios by reducing the proportion of the homogametic sex. However, many data sets do not show such an effect, and there is a known selective publication bias. To resolve the issue, we (a) developed detailed theoretical expectations for the effects of inbreeding on sex-ratios for autosomal and sex-linked loci with sex-limited effects or with equal

Richard Frankham; Jonathan Wilcken

2006-01-01

360

Specific Chromosomal Abnormalities in Malignant Human Gliomas1  

Microsoft Academic Search

Karyotypic analysis of 54 malignant human gliomas (5 anaplastic asina-)tomas, 43 glioblastoma multiformes, 3 gliosarcomas, 2 giant cell glioblastomas, 1 anaplastic mixed glioma) has demonstrated that 12 tumors contained normal stemlines or only lacked one sex chromosome. The 42 tumors with abnormal karyotypes included 38 tumors which could be completely analyzed. Six of these 38 cases had near-triploid or near-

Sandra H. Bigner; Joachim Mark; Peter C. Burger; M. Stephen; Dennis E. Bullan; Lawrence H. Muhlbaier; Dareil D. Bigner

1988-01-01

361

Radiological abnormalities in infants with urinary tract infections  

Microsoft Academic Search

An intravenous urogram and micturating cystourethrogram were carried out in 100 infants presenting with documented urinary tract infections. Ninety three cases were identified by suprapubic aspiration and 7 by culture of two voided urine samples containing greater than 100 X 10(6) organisms per litre. The urinary tract abnormalities were analysed in respect of their clinical importance, patient's age, sex, and

D Bourchier; G D Abbott; T M Maling

1984-01-01

362

Possible effects of polychlorinated biphenyls on sex determination in rainbow trout  

SciTech Connect

Aqueous exposure of newly hatched rainbow trout (Oncorhynchus mykiss) larvae to PCBs resulted in altered sex ratios and severe gonadal abnormalities in juvenile females. The proportion of females decreased from 41.9% in combined controls to 31.6 to 36.1% in groups that accumulated 2.5 {micro}g/g PCBs after 3-h immersions, although this decrease was not statistically significant. A total of 18.2% of the females in the treatment group that accumulated 2.1 {micro}g/g PCBs had abnormal gonads as compared to 2.7% in combined controls. Abnormalities were characterized by inconsistent or extremely limited development of oocytes. Although further work is required to validate these results, this study suggests that environmentally realistic tissue concentrations of PCBs may disrupt sexual development in female trout.

Matta, M.B.; Cairncross, C. [National Oceanic and Atmospheric Administration, Seattle, WA (United States). Coastal Resources Coordination Branch; Kocan, R.M. [Univ. of Washington, Seattle, WA (United States). School of Fisheries

1998-01-01

363

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

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,…

Beato-Fernandez, Luis; Rodriguez-Cano, Teresa; Pelayo-Delgado, Esther; Calaf, Myralys

2007-01-01

364

Chromosome Imbalance as a Driver of Sex Disparity in Disease  

PubMed Central

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

Abramowitz, Lara K.; Olivier-Van Stichelen, Stéphanie; Hanover, John A.

2014-01-01

365

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

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

Lux, Anke; Kropf, Siegfried; Kleinemeier, Eva; Jürgensen, Martina; Thyen, Ute

2009-01-01

366

Health of tree swallows (Tachycineta bicolor) nesting in pesticide-sprayed apple orchards in Ontario, Canada. II. Sex and thyroid hormone concentrations and testes development.  

PubMed

To investigate the effects of pesticides on wild birds, sex (17beta-estradiol; testosterone) and thyroid (triiodothyronine (T3) hormone concentrations, body mass, and testes mass were measured and the development of testes was evaluated in wild tree swallows (Tachycineta bicolor) nesting in four sprayed apple orchards and three nonsprayed sites in southern Ontario, Canada, in 1995-1996. In orchards, birds were exposed to asmany as 11 individual spray events and five sprays of mixtures of chemicals. Residues of organochlorine pesticides, PCBs, lead, and arsenic concentrations were low and not variable among sites except p,p'-DDE concentrations, which ranged from 0.36 to 2.23 microg/g wet weight in eggs. These persistent compounds were not correlated with any endocrine response measured in tree swallows. In 16-d-old male tree swallow chicks, body mass and concentrations of 17beta-estradiol (estradiol), testosterone, and T3 in plasma showed no significant differences between sprayed and nonsprayed groups and among sites within those groups. However, T3 concentrations were slightly elevated in the sprayed group compared to the nonsprayed group, and there was a significant and positive correlation between T3 and the number of mixtures of sprays applied during egg incubation through chick rearing. In 16-d-old female chicks, there were no significant differences among spray treatments or sites and no correlations with spray exposure for testosterone, estradiol, or T3 in plasma. Body mass was correlated positively with T3 and negatively with estradiol but showed no differences among spray exposure groups or sites. Histology of testes of 16-d-old male chicks indicated there were no significant differences among sprayed and nonsprayed birds in testes mass, area, or diameter, or the presence of Leydig cells in the interstitium, the distribution of the Sertoli cells, or the occurrence of heterophils in the testicular interstitium. For the percentage of spermatogonia present on the basement membrane, there were significant differences among sites, but these differences were not specifically associated with spray exposure. However, there was a marginally significant trend between increasing occurrence of a disrupted Sertoli cell population on the seminiferous tubular basement membranes as the number of mixtures of pesticides sprayed during chick rearing increased. In adult male and female parent tree swallows, there were no differences in hormone concentrations between birds from sprayed and nonsprayed sites. Nor were there any significant correlations between the concentration of any hormone and collection date, body mass, or any type of spray exposure for adults. The correlations between increasing pesticide exposure and abnormal thyroid hormone and testes development in male chicks indicate that further reductions of pesticide use in orchards may benefit the health of birds that nest there. However, it is unclear which of these pesticides or spray mixtures are responsible for these effects, and this needs to be examined in future studies. PMID:9885998

Bishop, C A; Van Der Kraak, G J; Ng, P; Smits, J E; Hontela, A

1998-12-25

367

Abnormal Psychology Psychology 280  

E-print Network

1 Abnormal Psychology Psychology 280 1st Summer Session 2013 May 13June 27, 2013 Tuesday" Kalibatseva, M.A. Office: 127B Psychology Building Email: kalibats@msu.edu Phone Psychology PhD program at Michigan State University. I completed my bachelor's dual degree in psychology

Liu, Taosheng

368

Abnormal Morphology Within Individuals  

Microsoft Academic Search

Semen from 15 healthy volunteers was assessed for basic semen measures every 2 weeks over a 6-month period to determine the relative stability of these factors. The parameters were: sperm count, semen volume, sperm motility, and normal morphology, along with the type of abnormal morphologic forms. Basic semen measures were generally more stable than the morphologic forms. Using three samples,

MARILYN L. POLAND; KAMRAN S. MOGHISSI; PAUL T. GIBLIN; JOEL W. AGER; JANE M. OLSON

369

Identification and transcriptional modulation of the largemouth bass, Micropterus salmoides, vitellogenin receptor during oocyte development by insulin and sex steroids.  

PubMed

Fish vitellogenin synthesized and released from the liver of oviparous animals is taken up into oocytes by the vitellogenin receptor. This is an essential process in providing nutrient yolk to developing embryos to ensure successful reproduction. Here we disclose the full length vtgr cDNA sequence for largemouth bass (LMB) that reveals greater than 90% sequence homology with other fish vtgr sequences. We classify LMB Vtgr as a member of the low density lipoprotein receptor superfamily based on conserved domains and categorize as the short variant that is devoid of the O-glycan segment. Phylogenetic analysis places LMB Vtgr sequence into a well-supported monophyletic group of fish Vtgr. Real-time PCR showed that the greatest levels of LMB vtgr mRNA expression occurred in previtellogenic ovarian tissues. In addition, we reveal the effects of insulin, 17beta-estradiol (E(2)), and 11-ketotestosterone (11-KT) in modulation of vtgr, esr, and ar mRNAs in previtellogenic oocytes. Insulin increased vtgr expression levels in follicles ex vivo while exposure to E(2) or 11-KT did not result in modulation of expression. However, both steroids were able to repress insulin-induced vtgr transcript levels. Coexposure with insulin and E(2) or of insulin and 11-KT increased ovarian esr2b and ar mRNA levels, respectively, which suggest a role for these nuclear receptors in insulin-mediated signaling pathways. These data provide the first evidence for the ordered stage-specific expression of LMB vtgr during the normal reproductive process and the hormonal influence of insulin and sex steroids on controlling vtgr transcript levels in ovarian tissues. PMID:22786822

Dominguez, Gustavo A; Quattro, Joseph M; Denslow, Nancy D; Kroll, Kevin J; Prucha, Melinda S; Porak, Wesley F; Grier, Harry J; Sabo-Attwood, Tara L

2012-09-01

370

Sex education in Czechoslovakia.  

PubMed

The Czechoslovak FPA (SPRVR) established in 1979 as a separate agency intends to maintain contact with the Ministry of Education in order to strengthen the position of parenthood education and influence the preparation of guidelines. The compulsory school system includes 6 to 15 year olds. After 1948, the head of the school determined the role of sex education and had the option of inviting a guest lecturer. In 1956, the Ministry of Education ruled that 1 sex education lecture was required for 14 year olds. In 1972, Government decision N137 required family life education at all school levels: pre-school stage, basic grades, secondary and higher education, and universities in preparation for harmonious, stable family life, parentship, and parenthood. In 1987, the new Minister of Education changed the prior policy of a separate secondary school subject to integration in other subjects. Due to this policy, there is great variation among schools, regions and teachers. Some emphasize the negative consequences of sex; personal experience and shame are also involved. Textbooks and materials are not uniform, and SPRVR is attempting to develop the resources to prepare sex materials and train unknowledgeable teachers. The Institute of Sexology since 1921 with its small staff has prepared texts and lecture notes and has a teaching staff but cannot meet the needs of the entire school population. New trends in sex education has emphasized the positive side of sex, behavior, and health, but have been met with parent and teacher apprehension and disagreement because of the mortality or the promotion of sex and a liberal attitude toward abortion. SPRVR holds scientific meetings on parenthood education with an interdisciplinary approach. There has been little consensus or uniformity of action, and inadequate sexual knowledge of teachers attitudes. The parenthood program also faces the influence of the Catholic Church which would like to abolish sex education. PMID:12343169

Buresova, A

1991-05-01

371

The master switch gene Sex-lethal promotes female development by negatively regulating the N signaling pathway  

PubMed Central

Summary Notch (N) signaling is used for cell fate determination in many different developmental contexts. Here we show that the master control gene for sex determination in Drosophila melanogaster, Sex-lethal (Sxl), negatively regulates the N signaling pathway in females. In genetic assays, reducing Sxl activity suppresses the phenotypic effects of N mutations while increasing Sxl activity enhances the effects. Sxl appears to negatively regulate the pathway by reducing N protein accumulation and higher levels of N are found in Sxl?clones than in adjacent wild type cells. The inhibition of N expression does not depend on the known downstream targets of Sxl; however we find that Sxl protein can bind to N mRNAs. Finally our results indicate that downregulation of the N pathway by Sxl contributes to sex specific differences in morphology and suggest that it may also play an important role in follicle cell specification during oogenesis. PMID:17276344

Penn, Jill K M; Schedl, Paul

2011-01-01

372

Sex-role orientation and attachment styles of sex offenders.  

PubMed

Given the increase of individuals who have a history of sexual offenses, there has been an increase in research on the etiology of sex-offending behavior. The present purpose was to evaluate the relationship between sex-role orientation and attachment styles of males who were sex offenders. Analysis yielded statistically significant differences between comparison (n = 22) and clinical groups (n = 21) in gender roles, with little sign of the androgynous gender type for sex offenders. The offender group showed significantly lower frequency of androgyny scores and significantly higher scores on feminine and undifferentiated orientations, supporting the theoretical view of sex offenders as being "cross-sex-typed." In addition, the sex offender group had a significantly higher mean score on anxious-avoidant relationship attachment. Based on the present findings, there appears to be a need to help sex offenders explore how their gender roles may relate to their sex-offending behavior and assist sex offenders in the development of adaptive relationships with reduced anxiety and ambivalence. PMID:22662415

Schneck, Mary M; Bowers, Thomas G; Turkson, Maria A

2012-04-01

373

Understanding glial abnormalities associated with myelin deficiency in the jimpy mutant mouse.  

PubMed

Jimpy is a shortened life-span murine mutant showing recessive sex-linked inheritance. The genetic defect consists of a point mutation in the PLP gene and produces a severe CNS myelin deficiency that is associated with a variety of complex abnormalities affecting all glial populations. The myelin deficiency is primarily due to a failure to produce the normal amount of myelin during development. However, myelin destruction and oligodendrocyte death also account for the drastic myelin deficit observed in jimpy. The oligodendroglial cell line shows complex abnormalities in its differentiation pattern, including the degeneration of oligodendrocytes through an apoptotic mechanism. Oligodendrocytes seem to be the most likely candidate to be primarily altered in a disorder affecting myelination, but disturbances affecting astrocytes and microglia are also remarkable and may have a crucial significance in the development of the jimpy disorder. In fact, the jimpy phenotype may not be attributed to a defect in a single cell but rather to a deficiency in the normal relations between glial cells. Evidences from a variety of sources indicate that the jimpy mutant could be a model for disturbed glial development in the CNS. The accurate knowledge of the significance of PLP and its regulation during development must be of vital importance in order to understand glial abnormalities in jimpy. PMID:9600623

Vela, J M; González, B; Castellano, B

1998-03-01

374

Development of sex control techniques for European sea bass ( Dicentrarchus labrax L.) aquaculture: effects of dietary 17 ?-methyltestosterone prior to sex differentiation  

Microsoft Academic Search

The purpose of this study was to develop a method for the hormonal masculinization of sea bass (Dicentrarchus labrax L.) reared under natural conditions of photoperiod and temperature. Sexually undifferentiated sea bass were fed 17?-methyltestosterone (MT) at 10 mg kg?1 food during three distinct periods of 100 days each: Period I, 126–226 days post fertilization (DPF) (July–November); Period II, 226–326

Mercedes Blázquez; Francesc Piferrer; Silvia Zanuy; Manuel Carrillo; Edward M. Donaldson

1995-01-01

375

Sexing sperm of domestic animals.  

PubMed

The ability to preselect or predetermine the sex of offspring prior to conception is a highly desired technological tool for assisted female breeding programs specifically for milk production, and in males, for meat production and increasing livestock numbers. The current technology is based on the well-known differences in X- and Y-sperm in the amount of DNA. The technology uses modified flow cytometric instrumentation for sorting X- and Y-bearing sperm. The method can be validated on the basis of live births, laboratory reanalysis of sorted sperm for DNA content, and embryo biopsy for sex determination. Currently, the sex of animals has been predetermined with 90 % accuracy by sexing spermatozoa. In the bovine breeding industry, flow cytometric sperm sexing has not fulfilled its original promise. Sexed sperm doses are too expensive for widespread application while the fertility of sexed sperm doses is lower than unsexed ones. Essentially all bovine sexed semen is frozen and then applied through artificial insemination (AI) or in vitro fertilization. There is still a need in the animal breeding industry to develop a technique for sperm sexing that provides sufficient spermatozoa for AI doses, does not compromise sperm fertility, and is widely applicable to a range of species. In this review, we will summarize the current state-of-the-art in sex preselection in domestic animals and some wildlife species using flow cytometric sperm-sorting of X from Y sperm based on DNA differences. PMID:22829354

Espinosa-Cervantes, Román; Córdova-Izquierdo, Alejandro

2013-01-01

376

Nature Needs Nurture: The Interaction of Hormonal and Social Influences on the Development of Behavioral Sex Differences in Rhesus Monkeys  

Microsoft Academic Search

Thirty years of research on early social and hormonal environments and their relationship to the expression of behavioral sex differences in rhesus monkeys are reviewed. These studies demonstrate that whether aggressive and submissive behaviors are sexually dimorphic depends primarily on the social and not the hormonal environment. Early rearing environments without mothers or allowing brief periods of peer interaction produced

Kim Wallen

1996-01-01

377

[Congenital foot abnormalities].  

PubMed

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

Delpont, M; Lafosse, T; Bachy, M; Mary, P; Alves, A; Vialle, R

2015-03-01

378

Cytogenetic abnormalities in Tunisian women with premature ovarian failure.  

PubMed

To identify the distribution of chromosome abnormalities among Tunisian women with premature ovarian failure (POF) referred to the department of Cytogenetic at the Pasteur Institute of Tunis (Tunisia), standard cytogenetic analysis was carried out in a total of 100 women younger than 40 affected with premature ovarian failure. We identified 18 chromosomal abnormalities, including seven X-numerical anomalies in mosaic and non-mosaic state (45,X; 47,XXX), four sex reversal, three X-structural abnormalities (terminal deletion and isochromosomes), one autosomal translocation and one supernumerary marker. The overall prevalence of chromosomal abnormalities was 18% in our cohort. X chromosome aneuploidy was the most frequent aberration. This finding confirms the essential role of X chromosome in ovarian function and underlies the importance of cytogenetic investigations in the routine management of POF. PMID:25433561

Ayed, Wiem; Amouri, Ahlem; Hammami, Wajih; Kilani, Olfa; Turki, Zinet; Harzallah, Fatma; Bouayed-Abdelmoula, Nouha; Chemkhi, Imen; Zhioua, Fethi; Slama, Claude Ben

2014-12-01

379

Sex research and social change  

Microsoft Academic Search

The history of scientific sex research which emerged at the turn of the century with the exemplary work of Sigmund Freud and Havelock Ellis has been complexly interactive with changing general social conditions, specific trends in sexual conduct, the content of sexual ideologies, and the developing techniques of scientific inquiry. The earliest sex researchers, although serving to bring sexuality out

John H. Gagnon

1975-01-01

380

Endocrine abnormalities of obesity.  

PubMed

Studies have shown that patients with central obesity have increased cortisol secretion, probably because they have increased activity of the hypothalamic-pituitary-adrenal (HPA) axis. A high waist-to-hip ratio (WHR) is associated with low production of sex steroids, such as testosterone in men, and a low rate of secretion of growth hormone. High levels of cortisol and insulin combined with low levels of growth hormone and sex steroid can cause lipid accumulation. These hormonal changes probably produce more deposition of visceral than subcutaneous fat. Patients who are deficient in either testosterone or growth hormone show a reduction in visceral adiposity when their hormone levels are normalized. Stress has been shown to activate the HPA axis and may cause the hormonal changes associated with obesity. Individuals with elevated WHR have indications of high levels of stress and anxiety. Monkeys that were stressed by social disruption were found to have increased cortisol levels and low sex steroid levels. Many of these animals had insulin resistance and visceral adiposity. Stimulants, such as alcohol and smoking, also increase the activity of the HPA axis. PMID:7674912

Björntorp, P

1995-09-01

381

Dosage Compensation of the Sex Chromosomes  

PubMed Central

Differentiated sex chromosomes evolved because of suppressed recombination once sex became genetically controlled. In XX/XY and ZZ/ZW systems, the heterogametic sex became partially aneuploid after degeneration of the Y or W. Often, aneuploidy causes abnormal levels of gene expression throughout the entire genome. Dosage compensation mechanisms evolved to restore balanced expression of the genome. These mechanisms include upregulation of the heterogametic chromosome as well as repression in the homogametic sex. Remarkably, strategies for dosage compensation differ between species. In organisms where more is known about molecular mechanisms of dosage compensation, specific protein complexes containing noncoding RNAs are targeted to the X chromosome. In addition, the dosage-regulated chromosome often occupies a specific nuclear compartment. Some genes escape dosage compensation, potentially resulting in sex-specific differences in gene expression. This review focuses on dosage compensation in mammals, with comparisons to fruit flies, nematodes, and birds. PMID:22974302

Disteche, Christine M.

2013-01-01

382

Microbiome, sex hormones, and immune responses in the reproductive tract: challenges for vaccine development against sexually transmitted infections.  

PubMed

The female and male reproductive tracts are complex eco-systems where immune cells, hormones, and microorganisms interact. The characteristics of the reproductive tract mucosa are distinct from other mucosal sites. Reproductive tract mucosal immune responses are compartmentalized, unique, and affected by resident bacterial communities and sex hormones. The female and male genital microbiomes are complex environments that fluctuate in response to external and host-associated stimuli. The female vaginal microbiota play an important role in preventing colonization by pathogenic organisms. Sex hormones and their duration of exposure affect the composition and stability of the microbiome as well as systemic and mucosal immune responses. In addition to the characteristics of the pathogen they are targeting, successful vaccines against sexually transmitted pathogens must take into account the differences between the systemic and mucosal immune responses, the compartmentalization of the mucosal immune responses, the unique characteristics of the reproductive tract mucosa, the role of the mucosal bacterial communities, the impact of sex hormones, and the interactions among all of these factors. PMID:24135572

Brotman, Rebecca M; Ravel, Jacques; Bavoil, Patrik M; Gravitt, Patti E; Ghanem, Khalil G

2014-03-20

383

Sex differences in fear conditioning in posttraumatic stress disorder  

PubMed Central

Background Women are twice as likely as men to develop Posttraumatic Stress Disorder (PTSD). Abnormal acquisition of conditioned fear has been suggested as a mechanism for the development of PTSD. While some studies of healthy humans suggest that women are either no different or express less conditioned fear responses during conditioning relative to men, differences in the acquisition of conditioned fear between men and women diagnosed with PTSD has not been examined. Methods Thirty-one participants (18 men; 13 women) with full or subsyndromal PTSD completed a fear conditioning task. Participants were shown computer-generated colored circles that were paired (CS+) or unpaired (CS?) with an aversive electrical stimulus and skin conductance levels were assessed throughout the task. Results Repeated measures ANOVA indicated a significant sex by stimulus interaction during acquisition. Women had greater differential conditioned skin conductance responses (CS + trials compared to CS? trials) than did men, suggesting greater acquisition of conditioned fear in women with PTSD. Conclusions In contrast to studies of healthy individuals, we found enhanced acquisition of conditioned fear in women with PTSD. Greater fear conditioning in women may either be a pre-existing vulnerability trait or an acquired phenomenon that emerges in a sex-dependent manner after the development of PTSD. Characterizing the underlying mechanisms of these differences is needed to clarify sex-related differences in the pathophysiology of PTSD. PMID:23107307

Inslicht, Sabra S.; Metzler, Thomas J.; Garcia, Natalia M.; Pineles, Suzanne L.; Milad, Mohammed R.; Orr, Scott P.; Marmar, Charles R.; Neylan, Thomas C.

2013-01-01

384

The effects of sertraline administration from adolescence to adulthood on physiological and emotional development in prenatally stressed rats of both sexes  

PubMed Central

Sertraline (SERT) is a clinically effective Selective Serotonin Reuptake Inhibitor (SSRI) known to increase and stabilize serotonin levels. This neurotransmitter plays an important role in adolescent brain development in both rodents and humans, and its dysregulation has been correlated with deficits in behavior and emotional regulation. Since prenatal stress may disturb serotoninergic homeostasis, the aim of this study was to examine the long-lasting effects of exposure to SERT throughout adolescence on behavioral and physiological developmental parameters in prenatally stressed Wistar rats. SERT was administered (5 mg/kg/day p.o.) from the age of 1–3 months to half of the progeny, of both sexes, of gestating dams stressed by use of a restraint (PS) or not stressed. Our data reveal that long-term SERT treatment slightly reduced weight gain in both sexes, but reversed the developmental disturbed “catch-up” growth found in PS females. Neither prenatal stress nor SERT treatment induced remarkable alterations in behavior and had no effects on mean startle reflex values. However, a sex-dependent effects of PS was found: in males the PS paradigm slightly increased anxiety-like behavior in the open field, while in females, it impaired startle habituation. In both cases, SERT treatment reversed the phenomena. Additionally, the PS animals exhibited a disturbed leukocyte profile in both sexes, which was reversed by SERT. The present findings are evidence that continuous SERT administration from adolescence through adulthood is safe in rodents and lessens the impact of prenatal stress in rats. PMID:25147514

Pereira-Figueiredo, Inês; Sancho, Consuelo; Carro, Juan; Castellano, Orlando; López, Dolores E.

2014-01-01

385

Sex and stripping  

PubMed Central

Wolbachia pipientis is known to infect only arthropods and nematodes (mainly filarial worms). A unique feature shared by the two Phyla is the ability to replace the exoskeleton, a process known as ecdysis. This shared characteristic is thought to reflect a common ancestry. Arthropod moulting is induced by the steroid hormone 20-hydroxyecdysone (20E) and a role for ecdysteroids in nematode ecdysis has also been suggested. Removing Wolbachia from filarial worms impairs the host’s development. From analyses of the genome of Wolbachia harbored by the filarial nematode Brugia malayi and that of its host, the bacterium may provide a source of heme, an essential component of cytochrome P450’s that are necessary for steroid hormone biosynthetic pathways. In arthropods, Wolbachia is a reproductive manipulator, inducing various phenotypic effects that may be due to differences in host physiology, in particular, endocrine-related processes governing development and reproduction. Insect steroids have well-defined roles in the coordination of multiple developmental processes, and in adults they control important aspects of reproduction, including ovarian development, oogenesis, sexual behavior, and in some taxa vitellogenin biosynthesis. According to some authors ecdysteroids may also act as sex hormones. In insects sex differentiation is generally thought to be a strictly genetic process, in which each cell decides its own sexual fate based on its sex chromosome constitution, but, surprisingly, recent data demonstrate that in Drosophila sex determination is not cell-autonomous, as it happens in mammals. Thus the presence of signals coordinating the development of a gender-specific phenotype cannot be excluded. This could explain why Wolbachia interferes with insect reproduction; and also could explain why Wolbachia interferes with insect development. Thus, is “sex (=reproduction) and stripping (=ecdysis)” the key to the intimate relationship between Wolbachia and its host? PMID:20585501

Pellecchia, Marco; Grève, Pierre; Daffonchio, Daniele; Bandi, Claudio; Alma, Alberto

2010-01-01

386

Phone Sex  

E-print Network

Phone Se by Flamingo art by KOZ PrmtedinUSA $SJ fS wv) p?l iSI PHCNE %t\\ By flamingo Illustrated by KOZ Editors: Tosya Stohn La Gavia Text & Titles: Jazz Printer: Kinko's ofGrand Rapids, MI Authorized Distributor TbGavia Flamingo Layout & Binding: Tosya Stohn Publisher: Bodacious Press PHONE SEX by Flamingo Copyright? May 1995. All rights reserved. No part of this publication may be reproduced without...

Flamingo

1995-01-01

387

The sensitivity of the child to sex steroids: possible impact of exogenous estrogens  

Microsoft Academic Search

The current trends of increasing incidences of testis, breast and prostate cancers are poorly understood, although it is assumed that sex hormones play a role. Disrupted sex hormone action is also believed to be involved in the increased occurrence of genital abnormalities among newborn boys and precocious puberty in girls. In this article, recent litera- ture on sex steroid levels

Lise Aksglaede; Anders Juul; Henrik Leffers; Niels E. Skakkebæk; Anna-Maria Andersson

2006-01-01

388

Spirometric abnormalities among welders  

SciTech Connect

A group of manual welders age group 13-60 years having a mean exposure period of 12.4 {plus minus} 1.12 years were subjected to spirometry to evaluate the prevalence of spirometric abnormalities. The welders showed a significantly higher prevalence of respiratory impairment than that observed among the unexposed controls as a result of exposure to welding gases which comprised fine particles of lead, zinc, chromium, and manganese. This occurred despite the lower concentration of the pollutants at the work place. In the expose group, the smoking welders showed a prevalence of respiratory impairment significantly higher than that observed in the nonsmoking welders. The results of the pulmonary function tests showed a predominantly restrictive type of pulmonary impairment followed by a mixed ventilatory defect among the welders. The effect of age on pulmonary impairment was not discernible. Welders exposed for over 10 years showed a prevalence of respiratory abnormalities significantly higher than those exposed for less than 10 years. Smoking also had a contributory role.

Rastogi, S.K.; Gupta, B.N.; Husain, T.; Mathur, N.; Srivastava, S. (Industrial Toxicology Research Centre, Lucknow (India))

1991-10-01

389

Epilepsy and chromosomal abnormalities  

PubMed Central

Background Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders. Methods Detailed clinical assessment, electrophysiological studies, survey of the literature. Results In some of these congenital syndromes the clinical presentation and EEG anomalies seems to be quite typical, in others the manifestations appear aspecific and no strictly linked with the chromosomal imbalance. The onset of seizures is often during the neonatal period of the infancy. Conclusions A better characterization of the electro clinical patterns associated with specific chromosomal aberrations could give us a valuable key in the identification of epilepsy susceptibility of some chromosomal loci, using the new advances in molecular cytogenetics techniques - such as fluorescent in situ hybridization (FISH), subtelomeric analysis and CGH (comparative genomic hybridization) microarray. However further studies are needed to understand the mechanism of epilepsy associated with chromosomal abnormalities. PMID:20438626

2010-01-01

390

INTRODUCTION Sex determination and differentiation in Drosophila  

E-print Network

INTRODUCTION Sex determination and differentiation in Drosophila melanogaster is controlled whether a fly becomes a female or a male is the on/off state of the Sex-lethal (Sxl) gene (reviewed of embryonic development, Sxl is sex-specifically controlled at the level of transcription by the relative

Baker, Bruce S.

391

Nuclear receptor action involved with sex differentiation  

Microsoft Academic Search

Sex determination and differentiation in the male is an orderly sequence of events coordinated by genetic and hormonal factors operating in a time- and concentration-depend- ent manner. The constitutive sex in mammals is female. Disorders of fetal sex development have provided the means to identify testis-determining genes and the molecular mechanisms of hormone action. Thus, the androgen receptor, a nuclear

Ieuan A. Hughes; Howard Martin; Jarmo Jääskeläinen; Carlo L. Acerini

2003-01-01

392

Sex and the Education of Our Children.  

ERIC Educational Resources Information Center

Schools, teachers, and principals must help develop good character by putting children in the presence of adults of good character who live the difference between right and wrong. Sex education is about character; in a sex education course issues of right and wrong should occupy center stage. In too may cases, however, sex education in American…

Bennett, William J.

393

Seeking the optimal development of Kikuyu women: A qualitative examination of traditional sex roles in Maai Mahiu, Kenya  

E-print Network

of papers and articles, always willing to edit my work with a smile on his face, and talking me through every stress or self-doubt I had through this process (and there were many)! I am so grateful to have so many people that believe in me in my corner... instead of raise their own children. Choices men and women have for dealing with society’s prescribed sex roles are numerous. The degree of importance placed on each of the roles within marital, familial, and 19 occupational realms determines...

Gripka, Abbey Alyssa Campbell

2014-08-31

394

A rare stapes abnormality.  

PubMed

The aim of this study is to increase awareness of rare presentations, diagnostic difficulties alongside management of conductive hearing loss and ossicular abnormalities. We report the case of a 13-year-old female reporting progressive left-sided hearing loss and high resolution computed tomography was initially reported as normal. Exploratory tympanotomy revealed an absent stapedius tendon and lack of connection between the stapes superstructure and footplate. The footplate was fixed. Stapedotomy and stapes prosthesis insertion resulted in closure of the air-bone gap by 50?dB. A review of world literature was performed using MedLine. Middle ear ossicular discontinuity can result in significant conductive hearing loss. This can be managed effectively with surgery to help restore hearing. However, some patients may not be suitable or decline surgical intervention and can be managed safely conservatively. PMID:25628909

Kanona, Hala; Virk, Jagdeep Singh; Kumar, Gaurav; Chawda, Sanjiv; Khalil, Sherif

2015-01-01

395

A Rare Stapes Abnormality  

PubMed Central

The aim of this study is to increase awareness of rare presentations, diagnostic difficulties alongside management of conductive hearing loss and ossicular abnormalities. We report the case of a 13-year-old female reporting progressive left-sided hearing loss and high resolution computed tomography was initially reported as normal. Exploratory tympanotomy revealed an absent stapedius tendon and lack of connection between the stapes superstructure and footplate. The footplate was fixed. Stapedotomy and stapes prosthesis insertion resulted in closure of the air-bone gap by 50?dB. A review of world literature was performed using MedLine. Middle ear ossicular discontinuity can result in significant conductive hearing loss. This can be managed effectively with surgery to help restore hearing. However, some patients may not be suitable or decline surgical intervention and can be managed safely conservatively. PMID:25628909

Kanona, Hala; Virk, Jagdeep Singh; Kumar, Gaurav; Chawda, Sanjiv; Khalil, Sherif

2015-01-01

396

Eye movement abnormalities.  

PubMed

Generation and control of eye movements requires the participation of the cortex, basal ganglia, cerebellum and brainstem. The signals of this complex neural network finally converge on the ocular motoneurons of the brainstem. Infarct or hemorrhage at any level of the oculomotor system (though more frequent in the brain-stem) may give rise to a broad spectrum of eye movement abnormalities (EMAs). Consequently, neurologists and particularly stroke neurologists are routinely confronted with EMAs, some of which may be overlooked in the acute stroke setting and others that, when recognized, may have a high localizing value. The most complex EMAs are due to midbrain stroke. Horizontal gaze disorders, some of them manifesting unusual patterns, may occur in pontine stroke. Distinct varieties of nystagmus occur in cerebellar and medullary stroke. This review summarizes the most representative EMAs from the supratentorial level to the brainstem. PMID:22377853

Moncayo, Jorge; Bogousslavsky, Julien

2012-01-01

397

The influence of photoperiod and sex on lipopolysaccharide-induced hypoactivity and behavioral tolerance development in meadow voles (Microtus pennsylvanicus).  

PubMed

Lipopolysaccharide (LPS), the minimal immunogenic component of Gram-negative bacteria, is released during infection and causes a variety of sickness behaviors including decreased locomotor activity. This study considered how photoperiod and sex influence the effects of LPS in the meadow vole, Microtus pennsylvanicus. Male and female voles were housed under either reproductively stimulatory (long day: 16 h) or inhibitory (short day: 8 h) photoperiods. On Days 1 and 8, voles were injected with LPS (200 microg/kg, i.p.) or saline vehicle and locomotor activity was assessed 2 h later in an automated open field for 1 h. The first exposure to LPS caused significant decrements in locomotor activity in all LPS-treated groups, regardless of photoperiod or sex. On Day 8, both short day males and females exhibited behavioral tolerance to LPS, no longer displaying significant activity decrements. In contrast, long day females reinjected with LPS on Day 8 still exhibited significant hypoactivity on all locomotor measures. Similarly, long day males also appeared to exhibit a sustained expression of sickness behaviors on Day 8. In long day females, higher circulating progesterone levels were associated with an attenuated rate of tolerance formation to LPS. The present findings support the winter immunoenhancement hypothesis, which states that small mammals which undergo severe seasonal fluctuations undergo compromised immune functioning during the breeding season, and further indicate a potential role for progesterone in modulating these seasonal immune fluctuations in females. PMID:14529703

Engeland, Christopher G; Kavaliers, Martin; Ossenkopp, Klaus Peter

2003-11-01

398

Perspective on the combined use of an independent transgenic sexing and a multifactorial reproductive sterility system to avoid resistance development against transgenic Sterile Insect Technique approaches  

PubMed Central

Background The Sterile Insect Technique (SIT) is an accepted species-specific genetic control approach that acts as an insect birth control measure, which can be improved by biotechnological engineering to facilitate its use and widen its applicability. First transgenic insects carrying a single killing system have already been released in small scale trials. However, to evade resistance development to such transgenic approaches, completely independent ways of transgenic killing should be established and combined. Perspective Most established transgenic sexing and reproductive sterility systems are based on the binary tTA expression system that can be suppressed by adding tetracycline to the food. However, to create 'redundant killing' an additional independent conditional expression system is required. Here we present a perspective on the use of a second food-controllable binary expression system - the inducible Q system - that could be used in combination with site-specific recombinases to generate independent transgenic killing systems. We propose the combination of an already established transgenic embryonic sexing system to meet the SIT requirement of male-only releases based on the repressible tTA system together with a redundant male-specific reproductive sterility system, which is activated by Q-system controlled site-specific recombination and is based on a spermatogenesis-specifically expressed endonuclease acting on several species-specific target sites leading to chromosome shredding. Conclusion A combination of a completely independent transgenic sexing and a redundant reproductive male sterility system, which do not share any active components and mediate the induced lethality by completely independent processes, would meet the 'redundant killing' criteria for suppression of resistance development and could therefore be employed in large scale long-term suppression programs using biotechnologically enhanced SIT. PMID:25471733

2014-01-01

399

Coexistence of Genotypic and Temperature-Dependent Sex Determination in Pejerrey Odontesthes bonariensis  

PubMed Central

In this study, we examined whether a homolog of the master sex-determining gene amhy of Odontesthes hatcheri is present and plays any role in testis determination of pejerrey O. bonariensis, a species otherwise known for its strong temperature-dependent sex determination (TSD). Screening of wild and laboratory-reared pejerrey for amhy revealed a high, although not complete linkage with phenotypic sex. The sex ratio in an amhy+/?/amhy?/? full sibling progeny reared during the thermolabile period of sex determination at an intermediate temperature of 25°C was 68.7% male:31.3% female; all amhy+/? fish developed as males whereas about 2/3 and 1/3 of the amhy?/? were female and male, respectively. Expression analyses revealed that amhy transcription began during embryo stage and decreased by the end of sex determination period. The autosomal amha was present in all individuals regardless of amhy genotype; its expression increased significantly from the end of the same period in the gonads of all amhy+/? but only in part of the amhy?/? animals. After histological gonadal differentiation, all gonads of amhy?/? animals with amha ISH signals were testes and those without it were ovaries. These results suggest that amhy is important for testicular differentiation in pejerrey, at least at intermediate temperatures. Thus, we hypothesize that amhy+/? animals differentiate as males by expression of either amhy alone or amhy and amha together whereas the amhy?/? probably rely solely on amha expression. These findings represent the first clear genomic evidence that genotypic and environmental sex determinants can coexist in species with marked TSD such as the pejerrey. The finding of amhy will make possible to monitor wild pejerrey populations for mismatches between genotypic and phenotypic sex and may prove instrumental for field studies addressing the effects of endocrine disruptors or abnormal temperatures on reproduction and the ecological relevance of TSD for this species. PMID:25036903

Sarida, Munti; Hattori, Ricardo S.; Strüssmann, Carlos A.

2014-01-01

400

Development of novel real-time TaqMan(®) PCR assays for the species and sex identification of otter (Lutra lutra) and their application to noninvasive genetic monitoring.  

PubMed

Developing strategies to maintain biodiversity requires baseline information on the current status of each individual species. The development of genetic techniques and their application to noninvasively collected samples have the potential to yield information on the structure of elusive animal populations and so are important tools in conservation management. Using DNA isolated from faecal samples can be challenging owing to low quantity and quality. This study, however, presents the development of novel real-time polymerase chain reaction assays using fluorescently labelled TaqMan(®) MGB probes enabling species and sex identification of Eurasian otter (Lutra lutra) spraints (faeces). These assays can also be used in determining an optimum microsatellite panel and can be employed as cost-saving screening tools for downstream genetic testing including microsatellite genotyping and haplotype analysis. The techniques are shown to work efficiently with L. lutra DNA isolated from tissue, hair, spraint, blood and anal jelly samples. PMID:23870402

O'Neill, David; Turner, Peter D; O'Meara, Denise B; Chadwick, Elizabeth A; Coffey, Lee; O'Reilly, Catherine

2013-09-01

401

[Dental abnormalities after treatment for childhood cancer].  

PubMed

Childhood cancer therapy often increases the risk of dental complications, such as tooth and roots agenesis, microdontia, abnormal development of tooth enamel, increased risk of cavity and other abnormalities. In a comparison with other late adverse effects of chemotherapy, radiotherapy and hematopoietic stem cell transplantion, a relative small number of clinical stud-ies observing patients for more than two years after completion of anticancer treatment was published. In this article, we review the incidence of dental abnormalities caused by commonly used anticancer treatment modalities as well as discuss their risk factors. Early identification of high-risk patients, early detection and management of dental abnormalities and better education of patients or their guardians, may have an impact on quality of life of cancer survivors.Key words: chemotherapy - radiotherapy - late effects - tooth abnormalities - childhood cancer The authors declare they have no potential conflicts of interest concerning drugs, products, or?services used in the study. The Editorial Board declares that the manuscript met the ICMJE "uniform requirements" for biomedical papers.Submitted: 3. 3. 2014Accepted: 4. 12. 2014. PMID:25692751

Mladosievi?ová, B; Jurkovi?, R; Izakovi?ová Hollá, L

2015-01-01

402

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23  

PubMed Central

Background Microdeletions of 14q22q23 have been associated with eye abnormalities and pituitary defects. Other phenotypic features in deletion carriers including hearing loss and response to growth hormone therapy are less well recognized. We studied genotype and phenotype of three newly identified children with 14q22q23 deletions, two girls and one boy with bilateral anophthalmia, and compared them with previously published deletion patients and individuals with intragenic defects in genes residing in the region. Results The three deletions were de novo and ranged in size between 5.8 and 8.9 Mb. All three children lacked one copy of the OTX2 gene and in one of them the deletion involved also the BMP4 gene. All three patients presented partial conductive hearing loss which tended to improve with age. Analysis of endocrine and growth phenotypes showed undetectable anterior pituitary, growth hormone deficiency and progressive growth retardation in all three patients. Growth hormone therapy led to partial catch-up growth in two of the three patients but just prevented further height loss in the third. Conclusions The pituitary hypoplasia, growth hormone deficiency and growth retardation associated with 14q22q23 microdeletions are very remarkable, and the latter appears to have an atypical response to growth hormone therapy in some of the cases. PMID:24581273

2014-01-01

403

X-linked H3K27me3 demethylase Utx is required for embryonic development in a sex-specific manner.  

PubMed

Embryogenesis requires the timely and coordinated activation of developmental regulators. It has been suggested that the recently discovered class of histone demethylases (UTX and JMJD3) that specifically target the repressive H3K27me3 modification play an important role in the activation of "bivalent" genes in response to specific developmental cues. To determine the requirements for UTX in pluripotency and development, we have generated Utx-null ES cells and mutant mice. The loss of UTX had a profound effect during embryogenesis. Utx-null embryos had reduced somite counts, neural tube closure defects and heart malformation that presented between E9.5 and E13.5. Unexpectedly, homozygous mutant female embryos were more severely affected than hemizygous mutant male embryos. In fact, we observed the survival of a subset of UTX-deficient males that were smaller in size and had reduced lifespan. Interestingly, these animals were fertile with normal spermatogenesis. Consistent with a midgestation lethality, UTX-null male and female ES cells gave rise to all three germ layers in teratoma assays, though sex-specific differences could be observed in the activation of developmental regulators in embryoid body assays. Lastly, ChIP-seq analysis revealed an increase in H3K27me3 in Utx-null male ES cells. In summary, our data demonstrate sex-specific requirements for this X-linked gene while suggesting a role for UTY during development. PMID:22826230

Welstead, G Grant; Creyghton, Menno P; Bilodeau, Steve; Cheng, Albert W; Markoulaki, Styliani; Young, Richard A; Jaenisch, Rudolf

2012-08-01

404

FORCED ADMINISTRATION OF SEX-DRIVE REDUCING MEDICATIONS TO SEX OFFENDERS: Treatment or Punishment?  

Microsoft Academic Search

Growing public intolerance for sexual crimes has led to a number of legislative measures, including chemical castration, the use of medications that, when used appropriately, reduce abnormally high sexual arousal or fantasy patterns. Four legislatures have recently passed laws requiring sex-drive-reducing medication as a condition of parole, and 23 others have considered similar bills. This article discusses the moral, ethical,

Robert D. Miller

1998-01-01

405

Change in offspring sex ratio over a very short season in Lincoln’s Sparrows: the potential role of bill development  

Microsoft Academic Search

The sex ratios of offspring are targets of natural selection that can affect parental energy\\u000aexpenditure and fitness, adult sex ratios, and population dynamics. Parents may manipulate offspring sex ratios\\u000abased on sex differences in potential reproductive success. In Lincoln’s Sparrows (Melospiza lincolnii), male bill shape\\u000ais associated with the quality of songs, and song quality predicts female preferences in

E. B. Graham; S. P. Caro; K. W. Sockman

2011-01-01

406

Prostitution & Sex Trafficking  

E-print Network

Prostitution & Sex Trafficking in Spain BY: Brittany Rittenberry Political Science & International purchased sex There are 1.5 Million sex transactions everyday #12;Argument: Sex trafficking in Spain would/3 #12;What was concluded... Terminology Demand Supply Sex Trafficking Prostitution #12;#12;For more

New Hampshire, University of

407

Development and optimization of methods for using sex pheromone for monitoring the mealybug Planococcus ficus (Homoptera: Pseudococcidae) in California vineyards.  

PubMed

The sex pheromone of the vine mealybug Planococcus ficus Signoret has been identified as a single component, lavandulyl senecioate. Racemic lavandulyl senecioate was as attractive to male mealybugs as the insect-produced (S)-enantiomer, indicating that the unnatural enantiomer is not inhibitory. Lavandulol, which also was found in extracts from virgin females, antagonized attraction of males at higher doses. Rubber septum lures loaded with 10- to 1,000-microg doses of the pheromone were equally attractive, and lures loaded with 100 microg of racemic pheromone remained attractive for at least 12 wk under field conditions. Delta traps were more effective than double-sided sticky cards and minimized captures of nontarget insects. Pheromone-baited traps had an effective range of at least 50 m. Comparison of visual sampling methods and sampling of males with pheromone-baited traps revealed that trap catches were significantly correlated with the results from visual sampling methods, and with economic damage. PMID:12216810

Millar, Jocelyn G; Daane, Kent M; McElfresh, J Steven; Moreira, Jardel A; Malakar-Kuenen, Raksha; Guillén, Marta; Bentley, Walt J

2002-08-01

408

A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency  

PubMed Central

Context: Isolated 17,20 lyase deficiency is commonly defined by apparently normal 17?-hydroxylase activity but severely reduced 17,20 lyase activity of the bifunctional enzyme cytochrome P450 (CYP) enzyme 17A1 (CYP17A1), resulting in sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve. Cytochrome b5 (CYB5A) is thought to selectively enhance 17,20 lyase activity by facilitating the allosteric interaction of CYP17A1 with its electron donor P450 oxidoreductase (POR). Objective: We investigated a large consanguineous family including three siblings with 46,XY disorder of sex development (DSD) presenting with isolated 17,20 lyase deficiency. Design: We investigated the clinical and biochemical phenotype, conducted genetic analyses, and functionally characterized the identified CYB5A mutation in cell-based CYP17A1 coexpression assays. Results: All three siblings presented with 46,XY DSD, sex steroid deficiency, normal mineralocorticoids and glucocorticoids, and a urine steroid metabolome suggestive of isolated 17,20 lyase deficiency. CYP17A1 and POR sequences were normal, but we detected a homozygous CYB5A missense mutation (g.28,400A?T; p.H44L). Functional in vitro analysis revealed normal CYP17A1 17?-hydroxylase activity but severely impaired 17,20 lyase activity. In silico analysis suggested the disruption of CYB5A heme binding by p.H44L. Conclusion: We have identified the first human CYB5A missense mutation as the cause of isolated 17,20 lyase deficiency in three individuals with 46,XY DSD. Detailed review of previously reported cases with apparently isolated 17,20 lyase deficiency due to mutant CYP17A1 and POR reveals impaired 17?-hydroxylase activity as assessed by steroid metabolome analysis and short cosyntropin testing. This suggests that truly isolated 17,20 lyase deficiency is observed only in individuals with inactivating CYB5A mutations. PMID:22170710

Idkowiak, Jan; Randell, Tabitha; Dhir, Vivek; Patel, Pushpa; Shackleton, Cedric H. L.; Taylor, Norman F.; Krone, Nils

2012-01-01

409

Childhood physical abnormalities following paternal exposure to sulfur mustard gas in Iran: a case-control study  

PubMed Central

Background Mustard gas, a known chemical weapon, was used during the Iran-Iraq war of 1980-1988. We aimed to determine if exposure to mustard gas among men was significantly associated with abnormalities and disorders among progenies. Methods Using a case-control design, we identified all progenies of Sardasht men (exposed group, n = 498), who were born at least nine months after the exposure, compared to age-matched controls in Rabat, a nearby city (non-exposed group, n = 689). We conducted a thorough medical history, physical examination, and appropriate paraclinical studies to detect any physical abnormality and/or disorder. Given the presence of correlated data, we applied Generalized Estimating Equation (GEE) multivariable models to determine associations. Results The overall frequency of detected physical abnormalities and disorders was significantly higher in the exposed group (19% vs. 11%, Odds Ratio [OR] 1.93, 95% Confidence Interval [CI], 1.37-2.72, P = 0.0002). This was consistent across sexes. Congenital anomalies (OR 3.54, 95% CI, 1.58-7.93, P = 0.002) and asthma (OR, 3.12, 95% CI, 1.43-6.80, P = 0.004) were most commonly associated with exposure. No single abnormality was associated with paternal exposure to mustard gas. Conclusion Our study demonstrates a generational effect of exposure to mustard gas. The lasting effects of mustard gas exposure in parents effects fertility and may impact child health and development in the long-term. PMID:20630096

2010-01-01

410

Variable Association between Components of the Metabolic Syndrome and Electrocardiographic Abnormalities in Korean Adults  

PubMed Central

Background/Aims Resting electrocardiogram (ECG) abnormalities have been strongly associated with cardiovascular disease mortality. Little is known, however, about the association between individual components of metabolic syndrome and ECG abnormalities, especially in Asian populations. Methods We examined clinical and laboratory data from 31,399 subjects (age 20 to 89 years) who underwent medical check-ups. ECG abnormalities were divided into minor and major abnormalities based on Novacode criteria. Ischemic ECG findings were separately identified and analyzed. Results The overall prevalence rates of ECG abnormalities were significantly higher in subjects with than in those without metabolic syndrome (p < 0.01). Ischemic ECG was strongly associated with metabolic syndrome in all age groups of both sexes, except for younger women. In multiple logistic regression analysis, metabolic syndrome was independently associated with ischemic ECG (odds ratio, 2.30 [2.04 to 2.62]; p < 0.01), after adjusting for sex, age, smoking, and family history of cardiovascular disease. Of the metabolic syndrome components, hyperglycemia in younger subjects and hypertension in elderly subjects were major factors for ischemic ECG changes, whereas hypertriglyceridemia was not an independent risk factor in any age group. The association between ischemic ECG findings and central obesity was weaker in women than in men. Conclusions Metabolic syndrome was strongly associated with ECG abnormalities, especially ischemic ECG findings, in Koreans. The association between each component of metabolic syndrome and ECG abnormalities varied according to age and sex. PMID:20526391

Kim, Chul-Hee; Ko, Kwan-Ho; Park, Seong-Wook; Park, Joong-Yeol; Lee, Ki-Up

2010-01-01

411

Abnormal T cell development in CD3-zeta-/- mutant mice and identification of a novel T cell population in the intestine.  

PubMed Central

The T cell antigen receptor (TCR)-associated invariable membrane proteins (CD3-gamma, -delta, -epsilon and -zeta) are critical to the assembly and cell surface expression of the TCR/CD3 complex and to signal transduction upon engagement of TCR with antigen. Disruption of the CD3-zeta gene by homologous recombination resulted in a structurally abnormal thymus which primarily contained CD4- CD8- and TCR/CD3very lowCD4+CD8+ cells. Spleen and lymph nodes of CD3-zeta-/- mutant mice contained a normal number and ratio of CD4+ and CD8+ single positive cells that were TCR/CD3very low. These splenocytes did not respond to antibody cross-linking or mitogenic triggering. The V beta genes of CD4-CD8- and CD4+CD8+ thymocytes and splenic T cells were productively rearranged. These data demonstrated that (i) in the absence of the CD3-zeta chain, the CD4- CD8- thymocytes could differentiate to CD4+CD8+ TCR/CD3very low thymocytes, (ii) that thymic selection might have occurred, (iii) but that the transition to CD4+CD8- and CD4-CD8+ cells took place at a very low rate. Most strikingly, intraepithelial lymphocytes (IELs) isolated from the small intestine or the colon expressed normal levels of TCR/CD3 complexes on their surface which contained Fc epsilon RI gamma homodimers. In contrast to CD3-zeta containing IELs, these cells failed to proliferate after triggering with antibody cross-linking or mitogen. In comparison to thymus-derived peripheral T cells in the spleen and lymph nodes, the preferential expression of normal levels of TCR/CD3 in intestinal IELs suggested they mature via an independent extrathymic pathway. Images PMID:8223495

Liu, C P; Ueda, R; She, J; Sancho, J; Wang, B; Weddell, G; Loring, J; Kurahara, C; Dudley, E C; Hayday, A

1993-01-01

412

Mammalian sex hormones in plants.  

PubMed

The occurrence of mammalian sex hormones and their physiological role in plants is reviewed. These hormones, such as 17beta-estradiol, androsterone, testosterone or progesterone, were present in 60-80% of the plant species investigated. Enzymes responsible for their biosynthesis and conversion were also found in plants. Treatment of the plants with sex hormones or their precursors influenced plant development: cell divisions, root and shoot growth, embryo growth, flowering, pollen tube growth and callus proliferation. The regulatory abilities of mammalian sex hormones in plants makes possible their use in practice, especially in plant in vitro culture. PMID:16044944

Janeczko, Anna; Skoczowski, Andrzej

2005-01-01

413

Abnormalities of Sexual Development in Male Rats with in Utero and Lactational Exposure to the Antiandrogenic Plasticizer Di(2-ethylhexyl) Phthalate  

Microsoft Academic Search

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 lacta- tional exposure to the most prevalent phthalate ester, di(2-ethylhexyl) phthalate (DEHP), on male reproductive system development and sexual behavior. Sprague-Dawley

Robert W. Moore; Thomas A. Rudy; Tien-Min Lin; Kinarm Ko; Richard E. Peterson

414

Sex and Arthritis  

MedlinePLUS

... Pain Pregnancy and Rheumatic Disease Sex and Arthritis Sex and Arthritis PRINT Download PDF Description Sexuality is ... sensation Erectile dysfunction or impotence Begin overcoming barriers Sex is not simply about reaching rapid orgasm with ...

415

Sex-linked dominant  

MedlinePLUS

Inheritance - sex-linked dominant; Genetics - sex-linked dominant; X-linked dominant; Y-linked dominant ... type of chromosome that is affected (autosomal or sex chromosome). It also depends on whether the trait ...

416

Parental care and adaptive brood sex ratio manipulation in birds  

Microsoft Academic Search

Under many circumstances, it might be adaptive for parents to bias the investment in offspring in relation to sex. Recently developed molecular techniques that allow sex determination of newly hatched offspring have caused a surge in studies of avian sex allocation. Whether females bias the primary brood sex ratio in relation to factors such as environmental and parental quality is

Dennis Hasselquist; Bart Kempenaers

2002-01-01

417

Multivariate expression analysis of the gene network underlying sexual development in turtle embryos with temperature-dependent and genotypic sex determination.  

PubMed

Sexual development has long been the target of study and despite great advances in our understanding of the composition and regulation of the gene network underlying gonadogenesis, our knowledge remains incomplete. Of particular interest is the relative role that the environment and the genome play in directing gonadal formation, especially the effect of environmental temperature in directing this process in vertebrates. Comparative analyses in closely related taxa with contrasting sex-determining mechanisms should help fill this gap. Here I present a multivariate study of the regulation of the gene network underlying sexual development in turtles with temperature-dependent (TSD; Chrysemys picta) and genotypic sex determination (GSD; Apalone mutica). I combine novel data on SOX9 and DMRT1 from these species with contrasting sex-determining mechanisms for the first time with previously reported data on DAX1, SF-1 (NR5A1), WT1, and aromatase (CYP19A1) from these same taxa. Comparative expression analyses of SOX9 and DMRT1 from these and other species indicate additional elements whose expression has diverged among TSD taxa, further supporting the notion that significant evolutionary changes have accrued in the regulation of the TSD gene network in reptiles. A non-parametric MANOVA revealed that temperature had a significant effect in multivariate gene expression in C. picta that varied during embryonic development, whereas the covariation of gene expression in A. mutica was insensitive to temperature. A phenotypic trajectory analysis (PTA) of gene expression comparing both species directly indicated that the relative covariation in gene expression varied between temperatures in C. picta. Furthermore, the 25 degrees C trajectory of C. picta differed from that of A. mutica in the magnitude of gene expression change. Additional analyses revealed a stronger covariation in gene expression and a more interconnected regulatory network in A. mutica, consistent with the hypothesis that sexual development is a more canalized process in A. mutica, as would be expected if GSD evolved in this lineage through directional selection from its TSD ancestor. PMID:20110645

Valenzuela, N

2010-01-01

418

abnormalities in infants and toddlers  

E-print Network

Cerebellar abnormalities in infants and toddlers with Williams syndrome Wendy Jones* PhD, The Salk-mail: jones@crl.ucsd.edu One commonly observed neuroanatomical abnormality in adults with Williams syndrome children with Williams syndrome. Clinical brain MRI was examined in nine young children with Williams

Bellugi, Ursula

419

Chromosomal abnormalities and mental illness  

Microsoft Academic Search

Linkage studies of mental illness have provided suggestive evidence of susceptibility loci over many broad chromosomal regions. Pinpointing causative gene mutations by conventional linkage strategies alone is problematic. The breakpoints of chromosomal abnormalities occurring in patients with mental illness may be more direct pointers to the relevant gene locus. Publications that describe patients where chromosomal abnormalities co-exist with mental illness

D J MacIntyre; D H R Blackwood; D J Porteous; B S Pickard; W J Muir

2003-01-01

420

Students' reactions to abnormal psychology  

Microsoft Academic Search

As a result of some concern about the effect of courses in abnormal psychology on students, a questionnaire was presented to several classes at the close of the course. The majority answering the questionnaire felt the course to be beneficial, giving evidence that the study of abnormal psychology need not be generally harmful, and may have a significant place in

W. S. Taylor

1932-01-01

421

Systemic abnormalities in liver disease  

PubMed Central

Systemic abnormalities often occur in patients with liver disease. In particular, cardiopulmonary or renal diseases accompanied by advanced liver disease can be serious and may determine the quality of life and prognosis of patients. Therefore, both hepatologists and non-hepatologists should pay attention to such abnormalities in the management of patients with liver diseases. PMID:19554648

Minemura, Masami; Tajiri, Kazuto; Shimizu, Yukihiro

2009-01-01

422

Abnormal pressure in hydrocarbon environments  

USGS Publications Warehouse

Abnormal pressures, pressures above or below hydrostatic pressures, occur on all continents in a wide range of geological conditions. According to a survey of published literature on abnormal pressures, compaction disequilibrium and hydrocarbon generation are the two most commonly cited causes of abnormally high pressure in petroleum provinces. In young (Tertiary) deltaic sequences, compaction disequilibrium is the dominant cause of abnormal pressure. In older (pre-Tertiary) lithified rocks, hydrocarbon generation, aquathermal expansion, and tectonics are most often cited as the causes of abnormal pressure. The association of abnormal pressures with hydrocarbon accumulations is statistically significant. Within abnormally pressured reservoirs, empirical evidence indicates that the bulk of economically recoverable oil and gas occurs in reservoirs with pressure gradients less than 0.75 psi/ft (17.4 kPa/m) and there is very little production potential from reservoirs that exceed 0.85 psi/ft (19.6 kPa/m). Abnormally pressured rocks are also commonly associated with unconventional gas accumulations where the pressuring phase is gas of either a thermal or microbial origin. In underpressured, thermally mature rocks, the affected reservoirs have most often experienced a significant cooling history and probably evolved from an originally overpressured system.

Law, B.E.; Spencer, C.W.

1998-01-01

423

SYSTEM FOR DETECTION OF ABNORMALITIES AND FRAUD IN CUSTOMER CONSUMPTION  

Microsoft Academic Search

This paper presents a general methodology to obtain a list of abnormal users using only the general customer databases as input. The abnormalities are oriented to fraud detection, customer consultancy purposes, and error correction (e.g. meter malfunction). This methodology allows the development of a system which can increase the success of the inspection campaigns by means of a systematic guidance

J. R. Galván; A. Elices; Iberdrola Ingeniería; Consultoría S. A. Avda de Burgos; A. Muñoz; T. Czernichow; M. A. Sanz-Bobi

424

Synaptic Reorganization in the Hippocampus Induced by Abnormal Functional Activity  

Microsoft Academic Search

Abnormal functional activity induces long-lasting physiological alterations in neural pathways that may play a role in the development of epilepsy. The cellular mechanisms of these alterations are not well understood. One hypothesis is that abnormal activity causes structural reorganization of neural pathways and promotes epileptogenesis. This report provides morphological evidence that synchronous perforant path activation and kindling of limbic pathways

Thomas Sutula; He Xiao-Xian; Jose Cavazos; Grayson Scott

1988-01-01

425

Sex-determination and sex-preselection tests in India: Modern techniques for femicide  

Microsoft Academic Search

In India during recent years techniques that were developed to detect genetic deformities in fetuses have been increasingly used mainly for determining the sex of fetuses so that female fetuses can be exterminated. This paper explores the factors underlying this practice and the related practice of preselecting the sex of offspring, examining both the widespread availability and use of sex-determination

Vibhuti Patel

1989-01-01

426

Prenatal sex hormone effects on child and adult sex-typed behavior: methods and findings  

Microsoft Academic Search

There is now good evidence that human sex-typed behavior is influenced by sex hormones that are present during prenatal development, confirming studies in other mammalian species. Most of the evidence comes from clinical populations, in which prenatal hormone exposure is atypical for a person's sex, but there is increasing evidence from the normal population for the importance of prenatal hormones.

Celina C. C. Cohen-Bendahan; Cornelieke van de Beek; Sheri A. Berenbaum

2005-01-01