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1

Chromosomal abnormalities and embryo development in recurrent miscarriage couples  

Microsoft Academic Search

BACKGROUND: Chromosomal abnormalities are an important cause of spontaneous abortion and recurrent mis- carriage (RM). Therefore, we have analysed the incidence of chromosomal abnormalities and embryo development in patients with RM. METHODS: Preimplantation genetic diagnosis (PGD) was performed on 71 couples with RM and 28 couples undergoing PGD for sex-linked diseases (control group). Chromosomes 13, 16, 18, 21, 22, X

C. Rubio; C. Simon; F. Vidal; L. Rodrigo; T. Pehlivan; J. Remohi; A. Pellicer

2003-01-01

2

Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities  

Microsoft Academic Search

The most common type of karyotype abnormality detected in infertile subjects is represented by Klinefelter’s syndrome, and the most frequent non-chromosomal alteration is represented by Y chromosome long arm microdeletions. Here we report our experience and a review of the literature on sperm sex chromosome aneuploidies in these two conditions. Non mosaic 47,XXY Klinefelter patients (12 subjects) show a significantly

A. Ferlin; A. Garolla; C. Foresta

2005-01-01

3

Disorders of Sexual Development and Abnormal Early Development in Domestic Food-Producing Mammals: The Role of Chromosome Abnormalities, Environment and Stress Factors  

Microsoft Academic Search

The management of disorders of sexual development (DSD) in humans and domestic animals has been the subject of intense interest for decades. The association between abnormal chromosome constitutions and DSDs in domestic animals has been recorded since the beginnings of conventional cytogenetic analysis. Deviated karyotypes consisting of abnormal sex chromosome sets and\\/or the coexistence of cells with different sex chromosome

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

2012-01-01

4

Limb malformations and abnormal sex hormone concentrations in frogs.  

PubMed Central

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

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

2000-01-01

5

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

6

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

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

1994-01-01

7

Sex Differences in Human Development  

ERIC Educational Resources Information Center

Sex differences in many aspects of early human development are reviewed: in physical growth and maturation, in motor activity and sensory capacities in infancy, in mother-infant interaction, in the onset of fear, in the social behaviour of pre-school children, in exploration, play and creativity, and in intellectual functions. (Author)

Hutt, Corinne

1972-01-01

8

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

9

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.

Meyers-Wallen, V.N.

2012-01-01

10

Classical and Molecular Cytogenetics of Disorders of Sex Development in Domestic Animals  

Microsoft Academic Search

The association of abnormal chromosome constitutions and disorders of sex development in domestic animals has been recorded since the beginnings of conventional cytogenetic analysis. Deviated karyotypes consisting of abnormal sex chromosome sets (e.g. aneuploidy) and\\/or the coexistence of cells with different sex chromosome constitutions (e.g. mosaicism or chimerism) in an individual seem to be the main causes of anomalies of

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

2009-01-01

11

[Multiple sex drive abnormalities in a patient with Klinefelter's syndrome].  

PubMed

The authors report various sexual instinct disturbances and, more specifically, exhibitionism and pedophilia of a 25-year-old patient with Klinefelter's syndrome. The patient had committed several punishable offenses and was referred to our specialty clinic for psychologic and psychiatric examinations. Aspects of psychopathology and causal etiopathogenetic relationships of the authors' own observations are discussed and compared with those reported in the literature. Environmental factors are considered to be primarily responsible for the development of sexual perversions. The Klinefelter syndrome as such may be regarded as being of predispositional importance only. PMID:877168

Lahl, R; Thomas, B; Zernahle, K

1977-03-01

12

Gender Specific Sex Role Development.  

ERIC Educational Resources Information Center

Research has indicated that gender constancy and categorization are achieved in childhood and that autonomous sex-role integration occurs during adulthood, well after a secure sense of gender identity is established. To examine developmental sex-role identification, college students rated themselves on a "current" Bem Sex Role Inventory (BSRI) and…

Urbonas-Bendikas, Irena

13

Prenatal Diagnosis of Sex Chromosome Abnormalities: The 8Year Experience of a Single Medical Center  

Microsoft Academic Search

Objective: To assess the indications for prenatal karyotyping of sex chromosomal abnormalities (SCAs) during pregnancy. Methods: All singleton pregnancies interrupted in our institute because of SCAs (1998–2005) were categorized into subgroups of 45,XO (Turner syndrome), 47,XXY (Klinefelter syndrome), 47,XXX and 47,XYY. The indications for prenatal diagnostic testing were recorded. Results: There were 67 SCAs pregnancies: 33% Turner syndrome, 28% Klinefelter

Zvi Vaknin; Orit Reish; Ido Ben-Ami; Eli Heyman; Arie Herman; Ron Maymon

2008-01-01

14

Prenatal diagnosis of sex chromosome aneuploidies and disorders of sex development - a retrospective analysis of 11-year data.  

PubMed

Abstract Objective: Analysis of prenatally diagnosed sex chromosome aneuploidies and disorders of sex development (DSDs). Methods: This study includes a retrospective data analysis of 46 prenatally detected sex chromosome aneuploidies and one case of 46,XY DSD diagnosed during an 11-year period (2002-2012) at our department. Results: Of the 46 sex chromosome aneuploidies, 29 cases (63.0%) were in the group of a selected population of women according to abnormal first-/second-trimester ultrasound and 17 (37.0%) cases in an unselected population of women who underwent fetal karyotyping because of advanced maternal age. The most common aneuploidy was Turner syndrome in full and mosaic form (50%). Complete androgen insensitivity syndrome was diagnosed in the case of 46,XY DSD. Conclusions: Sex chromosome aneuploidies must be taken into consideration if, in the first or second trimester, abnormalities are revealed on ultrasound, mainly Turner syndrome in full or mosaic form and 47,XYY. PMID:24445234

Vlatkovic, Ivanka Bekavac; Hafner, Tomislav; Miskovic, Berivoj; Vicic, Ana; Poljak, Borna; Stipoljev, Feodora

2014-07-01

15

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

PubMed

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

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

2012-01-01

16

XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.  

PubMed

Differentiation of the bipotential gonad into testis is initiated by the Y chromosome-linked gene SRY (Sex-determining Region Y) through upregulation of its autosomal direct target gene SOX9 (Sry-related HMG box-containing gene 9). Sequence and chromosome homology studies have shown that SRY most probably evolved from SOX3, which in humans is located at Xq27.1. Mutations causing SOX3 loss-of-function do not affect the sex determination in mice or humans. However, transgenic mouse studies have shown that ectopic expression of Sox3 in the bipotential gonad results in upregulation of Sox9, resulting in testicular induction and XX male sex reversal. However, the mechanism by which these rearrangements cause sex reversal and the frequency with which they are associated with disorders of sex development remains unclear. Rearrangements of the SOX3 locus were identified recently in three cases of human XX male sex reversal. We report on a case of XX male sex reversal associated with a novel de novo duplication of the SOX3 gene. These data provide additional evidence that SOX3 gain-of-function in the XX bipotential gonad causes XX male sex reversal and further support the hypothesis that SOX3 is the evolutionary antecedent of SRY. PMID:22678921

Moalem, Sharon; Babul-Hirji, Riyana; Stavropolous, Dmitri J; Wherrett, Diane; Bägli, Darius J; Thomas, Paul; Chitayat, David

2012-07-01

17

A Cytogenetic Study of Abnormal Sexual Development.  

National Technical Information Service (NTIS)

Nineteen patients associated with sexual anomalies were studied for chromosome abnormalities. Five cases (26.3 per cent) were found to be chromosomally abnormal. They were one case of mixed gonadal dysgenesis with an XY/XO mosaicism, two cases of Klinefel...

C. C. Lin K. S. W. Kim P. Y. Wei

1969-01-01

18

Development of Sex Differences in Spatial Ability.  

National Technical Information Service (NTIS)

The development of sex differences in spatial ability were studied. Results of the research conclude that both males and females use the same algorithms for mentally transforming stimuli. Men generate internal representations more rapidly than women, rota...

R. V. Kail

1980-01-01

19

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

MedlinePLUS

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

20

Sex-specific chromosome instability in early human development.  

PubMed

The predominance of females segregating chromosome aberrations to their offspring has been explained mostly by selection disadvantage of unbalanced products of spermatogenesis. However, analysis of data from the literature supports the idea that somatic cells of early female embryos are similar to female germ cells in that they are prone to malsegregation. The goal of this study was to compare the sex ratio (male to female ratio) of carriers of presumably mitotic-occurring chromosome abnormalities to identify any sex biases. In examining the literature, we found a female prevalence in cases of mosaicism associated with uniparental disomy (UPD) (26 male individuals/conceptions and 45 female individuals/conceptions, sex ratio is 0.58, significantly different from 1.06 in newborn population, P = 0.0292). This predominance was highest at gestational age <16 week (8 male and 22 female conceptuses, sex ratio is 0.36, significantly different from expected figure of 1.28, P = 0.0025), which diminished at later stages of fetal development indicating potential correction of trisomies predominantly in females. There is a threefold prevalence of 46,XX/45,X mosaics over 46,XY/45,X mosaics in prenatally diagnosed cases, which also suggests a gender-specific postzygotic chromosome loss. The male prevalence in Prader-Willi syndrome with maternal UPD of chromosome 15 also can be explained by sex-specific trisomy correction, with predominant loss of a maternal chromosome causing biparental inheritance and therefore, complete correction of trisomy in females (without UPD). Finally, there is a female predominance in carriers of chromosome rearrangement with pericentromere break (mosaicism for Robertsonian translocation/isochromosome, centric fission, nonacrocentric isochromosome, and whole arm rearrangement), in both prenatal (21 males and 36 females, sex ratio is 0.58, P < 0.0184) and postnatal ill-defined cases (14 males and 35 females, sex ratio is 0.40, P = 0.001). Thus, the findings presented in this paper suggest that, in addition to reduction in male fertility, and to probable selection against abnormal cell line(s), there are two mechanisms that contribute to female preponderance among carriers of mosaicism: sex-specific chromosome loss and sex-specific centromere instability. The data obtained suggest that females may have gonadal mosaicism for aneuploidies and structural rearrangements more often than males. This may lead to the maternal origin bias in offspring with trisomies or structural rearrangements. PMID:16001445

Kovaleva, Natalia V

2005-08-01

21

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

22

CYTOGENETIC ABNORMALITY IN MAN--Wider Implications of Theories of Sex Chromatin Origin  

PubMed Central

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

Miles, Charles P.

1962-01-01

23

Offense related characteristics and psychosexual development of juvenile sex offenders  

Microsoft Academic Search

OBJECTIVE:: This article reports on offense related characteristics and the psychosexual development in subgroups of juvenile sex offenders as measured by the Global Assessment Instrument for Juvenile Sex Offenders (GAIJSO). The predictive validity of these characteristics for persistent (sexual) offensive behavior in subgroups of juvenile sex offenders was investigated. METHODS:: One hundred seventy four sex offenders (mean age 14.9 SD

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

2009-01-01

24

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

25

Abnormal development of the human cerebral cortex  

PubMed Central

This review presents an overview of human cortical malformation based on the insights gained from examination of human fetal brains. Examination at early stages of fetal brain development allows the identification of the specific pathways which are disrupted in human cortical malformation. Detailed examination of human fetal brains in parallel with studies of genetics and animal models is leading to new concepts of cortical malformations. Here we review a range of human cortical malformations based on a simple classification according to the developmental process thought to be disrupted: neuroblast proliferation, undermigration, overmigration, cortical maturation and destructive lesions. A single case example of a dated intrauterine injury illustrates the spectrum of malformations which may result at a single period in development. The recommended methods of examination of human fetal brain are described together with some of their pitfalls. Detailed neuropathological observations indicate the need for caution in the classification of malformations; radiological findings and pathology of the mature brain do not reflect the specific disruptive pathways of cortical malformations. While many insults may lead to the same pattern of malformation, a single insult can lead to multiple patterns of malformation. Our detailed studies of the human fetal brain suggest that the interface between the meninges and the radial glial end feet may be an intriguing new focus of interest in understanding cortical development.

Squier, Waney; Jansen, Anna

2010-01-01

26

Analysis of sex chromosome abnormalities using X and Y chromosome DNA tiling path arrays  

PubMed Central

Background: Array comparative genomic hybridisation is a powerful tool for the detection of copy number changes in the genome. Methods: A human X and Y chromosome tiling path array was developed for the analysis of sex chromosome aberrations. Results: Normal X and Y chromosome profiles were established by analysis with DNA from normal fertile males and females. Detection of infertile males with known Y deletions confirmed the competence of the array to detect AZFa, AZFb and AZFc deletions and to distinguish between different AZFc lesions. Examples of terminal and interstitial deletions of Xp (previously characterised through cytogenetic and microsatellite analysis) have been assessed using the arrays, thus both confirming and refining the established deletion breakpoints. Breakpoints in iso?Yq, iso?Yp and X–Y translocation chromosomes and X–Y interchanges in XX males are also amenable to analysis. Discussion: The resolution of the tiling path clone set used allows breakpoints to be placed within 100–200?kb, permitting more precise genotype/phenotype correlations. These data indicate that the combined X and Y tiling path arrays provide an effective tool for the investigation and diagnosis of sex chromosome copy number aberrations and rearrangements.

Karcanias, A C; Ichimura, K; Mitchell, M J; Sargent, C A; Affara, N A

2007-01-01

27

Review and management of 46,XY disorders of sex development.  

PubMed

Disorders of sex development (DSD) among 46,XY individuals are rare and challenging conditions. Abnormalities of karyotype, gonadal formation, androgen synthesis, and androgen action are responsible for the multiple disorders that result in undervirilization during development. Phenotypic appearance and timing of presentation are quite variable. The focus of treatment has shifted from early gender assignment and corrective surgery to careful diagnosis, proper education of patients and their families, and individualized treatment by a multi-disciplinary team. The modern management of these patients is difficult and controversial. Conflicting data on long-term outcomes of these individuals have been reported in the literature. The various etiologies of 46,XY DSD, current approaches to diagnosis and treatment, and reported long-term results are reviewed. PMID:23276787

Massanyi, Eric Z; Dicarlo, Heather N; Migeon, Claude J; Gearhart, John P

2013-06-01

28

Cardiac malformations and myocardial abnormalities in podoplanin knockout mouse embryos: Correlation with abnormal epicardial development.  

PubMed

Epicardium and epicardium-derived cells have been shown to be necessary for myocardial differentiation. To elucidate the function of podoplanin in epicardial development and myocardial differentiation, we analyzed podoplanin knockout mouse embryos between embryonic day (E) 9.5 and E15.5 using immunohistochemical differentiation markers, morphometry, and three-dimensional reconstructions. Podoplanin null mice have an increased embryonic lethality, possibly of cardiac origin. Our study reveals impairment in the development of the proepicardial organ, epicardial adhesion, and spreading and migration of the epicardium-derived cells. Mutant embryos show a hypoplastic and perforated compact and septal myocardium, hypoplastic atrioventricular cushions resulting in atrioventricular valve abnormalities, as well as coronary artery abnormalities. The epicardial pathology is correlated with reduced epithelial-mesenchymal transformation caused by up-regulation of E-cadherin, normally down-regulated by podoplanin. Our results demonstrate a role for podoplanin in normal cardiac development based on epicardial-myocardial interaction. Abnormal epicardial differentiation and reduced epithelial-mesenchymal transformation result in deficient epicardium-derived cells leading to myocardial pathology and cardiac anomalies. PMID:18265012

Mahtab, Edris A F; Wijffels, Maurits C E F; Van Den Akker, Nynke M S; Hahurij, Nathan D; Lie-Venema, Heleen; Wisse, Lambertus J; Deruiter, Marco C; Uhrin, Pavel; Zaujec, Jan; Binder, Bernd R; Schalij, Martin J; Poelmann, Robert E; Gittenberger-De Groot, Adriana C

2008-03-01

29

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

30

Consanguinity and disorders of sex development.  

PubMed

Disorders of sex development (DSD) are defined as 'congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical' [Lee et al., Pediatrics 2006;118:e488-e500]. Studies conducted in Western countries, with low rates of consanguinity, show that truly ambiguous genitalia have an estimated incidence of 1:5,000 births. There are indications that the prevalence of DSD is higher in endogamous communities. The incidence of ambiguous genitalia in Saudi Arabia has been estimated at 1:2,500 live births; whilst in Egypt, it has been estimated at 1:3,000 live births. This may be due in part to an increase in disorders of androgen synthesis associated with 46,XX DSD. There is clearly a need for further studies to address the frequency of DSD in communities with high levels of consanguinity. This will be challenging, as an accurate diagnosis is difficult and expensive even in specialized centres. In developing countries with high levels of consanguinity, these limitations can be compounded by cultural, social and religious factors. Overall there is an indication that consanguinity may lead to an increase in incidences of both 46,XY and 46,XX DSD, and a co-ordinated study of populations with higher incidences of consanguinity/endogamy is needed to resolve this. © 2014 S. Karger AG, Basel. PMID:25060274

Bashamboo, Anu; McElreavey, Ken

2014-01-01

31

The measurement of abnormal movement: methods developed for Huntington's disease.  

PubMed

Clinical and laboratory methods were developed to detect motor abnormalities in patients with Huntington Disease. For clinical evaluation a quantitated neurological examination was used which factor analyzed into 2 scales: a chorea scale (a measure of involuntary movement) and a motor impairment scale (a measure of abnormalities of voluntary movement). Mechanized methods of measuring involuntary movement (accelerometer) and voluntary movement (reaction time, tapping speed, and movement time) were also developed. The motor abnormalities detected on the clinical and mechanical tests were not specific to HD but were also present in persons at 50% risk for HD and in patients with a variety of neurological disorders. The mechanized tests may be useful for screening for motor disorders in the population: they are non-specific, portable and do not require the services of an experienced clinician. PMID:6230541

Folstein, S E; Jensen, B; Leigh, R J; Folstein, M F

1983-01-01

32

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.

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

2007-01-01

33

Abnormal Enamel Development in a Cystic Fibrosis Transgenic Mouse Model  

Microsoft Academic Search

Cystic fibrosis (CF) is a hereditary condition that affects cAMP-regulated chloride channels in epithelial tissues due to a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Recently, a transgenic CF mouse model was developed at UNC that exhibits no CFTR expression. Interestingly, the CF mouse demonstrates abnormal incisor enamel. Therefore, the purpose of this investigation was to characterize

J. T. Wright; C. L. Kiefer; K. I. Hall; B. R. Grubb

1996-01-01

34

Genetics of normal and abnormal thyroid development in humans.  

PubMed

The most frequent cause of congenital hypothyroidism is thyroid dysgenesis. Thyroid dysgenesis summarizes a spectrum of developmental abnormalities of the embryonic thyroid ranging from complete absence of the thyroid gland (athyreosis), to a normally located but too small thyroid (hypoplasia), or an abnormally located thyroid gland (ectopy). Although considered a sporadic disease, distinct genetic forms of isolated or syndromic thyroid dysgenesis have been described in recent years. However, genetics of thyroid dysgenesis (TD) are mostly not following simple Mendelian patterns, and beside monogenic, multigenic and epigenetic mechanisms need to be considered. The review will highlight the molecular mechanisms of thyroid organogenesis, clinical and genetic features of the different monogenetic forms of thyroid dysgenesis, the aspects relevant for diagnosis and counseling of affected families and current research strategies to get more insight into the non-Medelian mechanisms of normal and abnormal thyroid development. PMID:24629857

Szinnai, Gabor

2014-03-01

35

Risking a Relation: Sex Education and Adolescent Development  

ERIC Educational Resources Information Center

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

Gilbert, Jen

2007-01-01

36

Development and Validation of the Sex Education Confidence Scale (SECS)  

Microsoft Academic Search

Sex education is a highly discussed, controversial topic in the literature. Instruments measuring knowledge about sexual health exist, but none measure how comfortable educators are teaching sex education. The purpose of this study was the development and validation of items for the Sex Education Confidence Scale (SECS). This Scale was intended for use with teacher preparation students and practicing teachers

Tara Tietjen-Smith; Rick Balkin; Sandy Kimbrough

2008-01-01

37

Sex Differences and Sex Role Development in Young Children: An Abstract Bibliography.  

ERIC Educational Resources Information Center

This selective abstract bibliography cites recent ERIC documents on behavioral differences between preschool and elementary school girls and boys in such areas as moral judgment, school readiness, self esteem, motor performance, aggression, locus of control, and social development. Other documents cited examined sex role development and sex role…

Howard, Norma K., Comp.

38

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

39

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

Microsoft Academic Search

This review covers the relationship between chromosome abnormalities, morphological abnormalities and embryonic development. The baseline of chromosome abnormalities in human embryos produced by assisted reproduction is higher than 50%, regardless of maternal age. While aneuploidy increases with maternal age, abnormalities arising post-meiotically, such as mosaicism, chaoticism, polyploidy and haploidy, have similar incidence in all age groups (about 33%). Post-meiotic abnormalities

Santiago Munné

2006-01-01

40

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.

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

41

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

42

Neurogenin 3 mediates sex chromosome effects on the generation of sex differences in hypothalamic neuronal development  

PubMed Central

The organizational action of testosterone during critical periods of development is the cause of numerous sex differences in the brain. However, sex differences in neuritogenesis have been detected in primary neuronal hypothalamic cultures prepared before the peak of testosterone production by fetal testis. In the present study we assessed the hypothesis of that cell-autonomous action of sex chromosomes can differentially regulate the expression of the neuritogenic gene neurogenin 3 (Ngn3) in male and female hypothalamic neurons, generating sex differences in neuronal development. Neuronal cultures were prepared from male and female E14 mouse hypothalami, before the fetal peak of testosterone. Female neurons showed enhanced neuritogenesis and higher expression of Ngn3 than male neurons. The silencing of Ngn3 abolished sex differences in neuritogenesis, decreasing the differentiation of female neurons. The sex difference in Ngn3 expression was determined by sex chromosomes, as demonstrated using the four core genotypes mouse model, in which a spontaneous deletion of the testis-determining gene Sry from the Y chromosome was combined with the insertion of the Sry gene onto an autosome. In addition, the expression of Ngn3, which is also known to mediate the neuritogenic actions of estradiol, was increased in the cultures treated with the hormone, but only in those from male embryos. Furthermore, the hormone reversed the sex differences in neuritogenesis promoting the differentiation of male neurons. These findings indicate that Ngn3 mediates both cell-autonomous actions of sex chromosomes and hormonal effects on neuritogenesis.

Scerbo, Maria J.; Freire-Regatillo, Alejandra; Cisternas, Carla D.; Brunotto, Mabel; Arevalo, Maria A.; Garcia-Segura, Luis M.; Cambiasso, Maria J.

2014-01-01

43

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

44

Development of Sex-Trait Stereotype Awareness among Korean Children.  

ERIC Educational Resources Information Center

Assumptions regarding the development of Korean children's awareness of sex-trait stereotypes derived with the SSM II, a measurement device developed on the basis of American stereotypes, were tested using a Korean Sex-Trait Stereotype Measure (KSSM), developed on the basis of Korean stereotypes. Results indicated Korean children's awareness of…

Lee, Jae Yeon; Sugawara, Alan I.

1994-01-01

45

Sex as Development: Curriculum, Pedagogy and Critical Inquiry  

ERIC Educational Resources Information Center

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

Janssen, Diederik Floris

2009-01-01

46

Recent Developments in Sex Discrimination Litigation.  

ERIC Educational Resources Information Center

This paper discusses sex discrimination as a judicial issue. Cases addressing differential treatment of men and women in the following areas are explored: student admissions practices, student athletic programs, employee pregnancy benefits and maternity leave policies, employee retirement benefits programs, and prerequisites to employment. Also…

McCarthy, Martha M.

47

CHRONIC PERCHLORATE EXPOSURE CAUSES MORPHOLOGICAL ABNORMALITIES IN DEVELOPING STICKLEBACK  

PubMed Central

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

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

2011-01-01

48

Offense related characteristics and psychosexual development of juvenile sex offenders  

PubMed Central

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

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

2009-01-01

49

Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish.  

PubMed

Congenital ataxia and mental retardation are mainly caused by variations in the genes that affect brain development. Recent reports have shown that mutations in the CA8 gene are associated with mental retardation and ataxia in humans and ataxia in mice. The gene product, carbonic anhydrase-related protein VIII (CARP VIII), is predominantly present in cerebellar Purkinje cells, where it interacts with the inositol 1,4,5-trisphosphate receptor type 1, a calcium channel. In this study, we investigated the effects of the loss of function of CARP VIII during embryonic development in zebrafish using antisense morpholino oligonucleotides against the CA8 gene. Knockdown of CA8 in zebrafish larvae resulted in a curved body axis, pericardial edema and abnormal movement patterns. Histologic examination revealed gross morphologic defects in the cerebellar region and in the muscle. Electron microscopy studies showed increased neuronal cell death in developing larvae injected with CA8 antisense morpholinos. These data suggest a pivotal role for CARP VIII during embryonic development. Furthermore, suppression of CA8 expression leads to defects in motor and coordination functions, mimicking the ataxic human phenotype. This work reveals an evolutionarily conserved function of CARP VIII in brain development and introduces a novel zebrafish model in which to investigate the mechanisms of CARP VIII-related ataxia and mental retardation in humans. PMID:23087022

Aspatwar, Ashok; Tolvanen, Martti E E; Jokitalo, Eija; Parikka, Mataleena; Ortutay, Csaba; Harjula, Sanna-Kaisa E; Rämet, Mika; Vihinen, Mauno; Parkkila, Seppo

2013-02-01

50

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

51

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

Kunio Kitamura; Masako Yanazawa; Noriyuki Sugiyama; Hirohito Miura; Akiko Iizuka-Kogo; Masatomo Kusak; 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

52

Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage  

Microsoft Academic Search

BACKGROUND: A correlation between morphology, developmental competence and chromosome abnormalities is established. However, since absolute correlations are rare, embryo selection remains one of the most arduous tasks in assisted reproduction. This study was undertaken in order to determine which chromosomal abnormalities are compatible with development to the blastocyst stage. METHODS: Embryos diagnosed by preimplantation genetic diagnosis (PGD) as chromosomally abnormal

M. Sandalinas; S. Sadowy; M. Alikani; G. Calderon; J. Cohen

2001-01-01

53

Characterisation of subjects with early abnormalities of glucose tolerance in the Stockholm Diabetes Prevention Programme: the impact of sex and type 2 diabetes heredity  

Microsoft Academic Search

Aims\\/hypothesis  We evaluated the impact of sex and type 2 diabetes heredity on the prevalence and pathogenesis of early abnormalities of glucose homeostasis in subjects participating in the Stockholm Diabetes Prevention Programme.Methods  A sample of 3,128 men and 4,821 women, of whom approximately half had a family history of type 2 diabetes (FHD) was categorised according to an OGTT: NGT, IFG, IGT,

J. Kuhl; A. Hilding; C. G. Östenson; V. Grill; S. Efendic; P. Båvenholm

2005-01-01

54

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

55

Sex Hormones, Brain Development and Brain Function.  

National Technical Information Service (NTIS)

The view that gonadal hormones exert a double action on the central nervous system--inductive during development and excitatory in the adult--allows a direct comparison between the brain and genital tract as target organs for these hormones. In both cases...

G. W. Harris

1964-01-01

56

Whither Sex Education? Excellence in Comprehensive Program Development.  

ERIC Educational Resources Information Center

A review of recent sex education literature is presented in an attempt to integrate observations and recommendations related to both program development and innovation acceptance. A Developmental Research and Utilization Model is employed to systematically guide planning, implementation, evaluation, advocacy, and institutionalization. Curriculum…

Southern, Stephen

57

Assessing Sex Role Development of Kindergarten Mexican-American Boys.  

ERIC Educational Resources Information Center

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

Sultemeier, Barbara

58

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

59

Vaginoplasty for Disorders of Sex Development  

PubMed Central

One of the most common problem found in patients with Disorders of Sexual Developments is the absence or extreme hypoplasia of the vagina. The type of patients presenting this anomaly may belong to completely different groups: (1) Patients with a urogenital sinus with urethra and vagina fusing together to form a common channel. (2) Patients with absent Müllerian structures and different degrees of external virilization. (3) Complex malformations. Treatment options: treatment of these patients is under discussion and may consist, basically, in non-operative dilation methods or surgical creation of a neovagina. Consensus is far to be reached among the various surgical subspecialties regarding the optimal method of vaginal replacement. Adequate number of long-term follow up patients are still non-available so that most conclusions are based on small number series. The authors describe the different treatment options in detail.

Guarino, Nino; Scommegna, Salvatore; Majore, Silvia; Rapone, Anna Maria; Ungaro, Luciana; Morrone, Aldo; Grammatico, Paola; Marrocco, Giacinto A.

2013-01-01

60

Vaginoplasty for disorders of sex development.  

PubMed

One of the most common problem found in patients with Disorders of Sexual Developments is the absence or extreme hypoplasia of the vagina. The type of patients presenting this anomaly may belong to completely different groups: (1) Patients with a urogenital sinus with urethra and vagina fusing together to form a common channel. (2) Patients with absent Müllerian structures and different degrees of external virilization. (3) Complex malformations. Treatment options: treatment of these patients is under discussion and may consist, basically, in non-operative dilation methods or surgical creation of a neovagina. Consensus is far to be reached among the various surgical subspecialties regarding the optimal method of vaginal replacement. Adequate number of long-term follow up patients are still non-available so that most conclusions are based on small number series. The authors describe the different treatment options in detail. PMID:23483838

Guarino, Nino; Scommegna, Salvatore; Majore, Silvia; Rapone, Anna Maria; Ungaro, Luciana; Morrone, Aldo; Grammatico, Paola; Marrocco, Giacinto A

2013-01-01

61

Effects of Sex and Birth Order on Sex Role Development and Intelligence in Kindergarten Children.  

ERIC Educational Resources Information Center

The authors investigate MacDonald's (1969) hypothesis that a sex by birth order interaction should be observed in measures related to sex typing. Since first borns are more thoroughly socialized, MacDonald reasons, and since parental expectations differ according to the child's sex, then first born boys and girls on sex typed variables.…

Laosa, Luis M.; Brophy, Jere E.

62

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

PubMed Central

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

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

2014-01-01

63

Disorders of sex development in the dog-Adoption of a new nomenclature and reclassification of reported cases.  

PubMed

Intersexuality is a rare congenital abnormality in domestic animals. It is reported in numerous species including the swine, goat, horse, cat, and dog. The present work provides an overview of the variety of intersexual conditions known in different dog breeds. Each case was reclassified based on the described gonadal constitution, reproductive tract abnormalities and karyogram, and categorised according to the stages normal sex development is undergoing resulting in three main categories: (1) sex chromosome disorders, (2) disorders of gonadal sex development, and (3) disorders of phenotypic sex development. Reclassification disclosed that the current classification scheme and terminology are inconsistently used in literature masking the real occurrence and frequency of various intersex conditions in dogs. For establishment of an individual, precise and definite diagnosis, introduction of a new nomenclature is proposed as recently recommended for humans. The new terminology is based on the gonosomal constellation and gonadal constitution, contributes to a systematic classification of canine intersex cases, and replaces the common but confusing diagnoses "true hermaphrodite" and "pseudohermaphrodite". The literature survey was supplemented by adding the results from own investigations in a German Pinscher and Berger Picard dog with bilateral ovotestes and ambiguous external genitalia. The diagnostic approach and clinical, pathomorphological and cytogenetic findings were described in detail. PMID:20537823

Poth, T; Breuer, W; Walter, B; Hecht, W; Hermanns, W

2010-09-01

64

Toddlers’ Language Development: Sex Differences Within Social Risk  

Microsoft Academic Search

Sex differences in the association between environmental risk and language development were examined in a longitudinal study of 54 high-social-risk families. Measures of the environment included information about family stress and coping, opportunities for cognitive and linguistic stimulation, the nature of learning experiences, and the affective quality of the infant–mother relationship. Despite apparently similar family conditions and early experiences, there

Colleen E. Morisset; Kathryn E. Barnard; Cathryn L. Booth

1995-01-01

65

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

66

Long-term management of patients with disorders of sex development (DSD).  

PubMed

Differences or disorders of sex development (DSD) describe a biological discrepancy between chromosomal, gonadal, and phenotypical sex, often affecting the morphology of the genito-reproductive organs. DSD is most often due to genetic abnormalities affecting chromosomal composition or single genes. Most children with 46,XX karyotype and DSD have congenital adrenal hyperplasia due to 21-hydroxylase deficiency and should be regarded as unchallenged females. For children with 46,XY DSD, the situation is even much more complicated since indeed an exact genetic diagnosis is still missing. Depending on the phenotype, this may be true for more than 80% of children with severe hypospadias, in contrast in post-pubertal patients with clinical evidence of complete androgen insensitivity, whom 95% show an underlying mutation within the androgen receptor gene. DSD and numerical aberrations of sex chromosomes, especially 45,X/46,XY mosaicism depends essentially on the assessment of the exact clinical morphology with a focus of the external and internal genital structures and of the endocrine and reproductive function of the gonads with the aim for a best prognosis of the child. This assessment should be done in a center of expertise. PMID:24746403

Hiort, Olaf

2014-05-01

67

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.

68

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.

Schwarz, Jaclyn M.; Bilbo, Staci D.

2012-01-01

69

The influence of brain abnormalities on psychosocial development, criminal history and paraphilias in sexual murderers.  

PubMed

The aim of this study was to investigate the number and type of brain abnormalities and their influence on psychosocial development, criminal history and paraphilias in sexual murderers. We analyzed psychiatric court reports of 166 sexual murderers and compared a group with notable signs of brain abnormalities (N = 50) with those without any signs (N = 116). Sexual murderers with brain abnormalities suffered more from early behavior problems. They were less likely to cohabitate with the victim at the time of the homicide and had more victims at the age of six years or younger. Psychiatric diagnoses revealed a higher total number of paraphilias: Transvestic fetishism and paraphilias not otherwise specified were more frequent in offenders with brain abnormalities. A binary logistic regression identified five predictors that accounted for 46.8% of the variance explaining the presence of brain abnormalities. Our results suggest the importance of a comprehensive neurological and psychological examination of this special offender group. PMID:16225232

Briken, Peer; Habermann, Niels; Berner, Wolfgang; Hill, Andreas

2005-09-01

70

The influence of variation in obesity in the sex difference in the prevalence of abnormal glucose tolerance in Tuvalu.  

PubMed

The prevalence of abnormal glucose tolerance in the Polynesian population of Funafuti, Tuvalu (formerly the Ellice Islands) is much higher in females than males. However, the women are more obese than the men. Adjusting for obesity reduced the relative risk of abnormal glucose tolerance between males and females but the differences remained statistically significant. It is concluded that differences in the extent of obesity in the male and female population of Tuvalu explain part (but not all) of the differences in prevalence of impaired glucose tolerance in Funafutians. PMID:6945509

Taylor, R; Zimmet, P

1981-09-01

71

Disorders of sex development: new genes, new concepts.  

PubMed

Formerly known as 'intersex' conditions, disorders of sex development (DSDs) are congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. A complete revision of the nomenclature and classification of DSDs has been undertaken, which emphasizes the genetic aetiology of these disorders and discards pejorative terms. Uptake of the new terminology is widespread. DSDs affecting gonadal development are perhaps the least well understood. Unravelling the molecular mechanisms underlying gonadal development has revealed new causes of DSDs, although a specific molecular diagnosis is made in only ?20% of patients. Conversely, identification of the molecular causes of DSDs has provided insight into the mechanisms of gonadal development. Studies of N-ethyl-N-nitrosourea mutagenesis in the mouse, and multigene diagnostic screening and genome-wide approaches, such as array-comparative genomic hybridization and next-generation sequencing, in patients with DSDs are accelerating the discovery of genes involved in gonadal development and DSDs. Furthermore, long-range gene regulatory mutations and multiple gene mutations are emerging as new causes of DSDs. Patients with DSDs, their parents and medical staff are confronted with challenging decisions regarding gender assignment, genital surgery and lifelong care. These advances are refining prognostic prediction and systematically improving the diagnosis and long-term management of children with DSDs. PMID:23296159

Ono, Makoto; Harley, Vincent R

2013-02-01

72

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

PubMed Central

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

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

2013-01-01

73

Effects of sex and birth order on sex-role development and intelligence among kindergarten children  

Microsoft Academic Search

Tested A. MacDonald's hypothesis of a Sex * Birth Order interaction in measures related to sex typing. 93 5-6 yr. olds were observed and given a battery of tests (e.g., the Draw-A-Person Test and It Scale for Children). Results were clearly negative for measures of sex-role orientation, adoption, and preferences. However, the hypothesis was partially supported for variables not usually

Luis M. Laosa; Jere E. Brophy

1972-01-01

74

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.

2013-01-01

75

CELLULAR AND MOLECULAR MECHANISMS OF ABNORMAL REPRODUCTIVE DEVELOPMENT  

EPA Science Inventory

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

76

The Development of Sex-Related Differences in Achievement.  

ERIC Educational Resources Information Center

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

Petersen, Anne C.

77

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.

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

78

Abnormalities of somite development in the absence of retinoic acid.  

PubMed

We describe the effects of an absence of retinoic acid (RA) on the development of somites in the quail embryo. RA was removed by generating vitamin A deficient quail embryos whereupon the resulting defects in the embryos can be analysed. The effect on the somites is threefold. Firstly, they are half the size of normal, but the total number of somites is the same as normal. There has therefore been some global regulation event. Secondly, by TUNEL staining and TEM we show that the lateral halves of all of the somites undergo apoptosis between stages 11 and 14. This effect is confined to the sclerotome of the somites. Thirdly, some of the genes involved in somite differentiation are down-regulated such as fgf-4, fgf-8, engrailed and myogenin whereas others we examined such as cek-8, Delta, follistatin and myf5 are not affected. These studies reveal remarkably specific effects of RA on developmental gene pathways in the embryo. PMID:10761860

Maden, M; Graham, A; Zile, M; Gale, E

2000-01-01

79

Malformation syndromes associated with disorders of sex development.  

PubMed

When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had a DSD. This Review summarises these malformation syndromes and discusses the recent research into their aetiology. The genetic causes of these malformation syndromes, when they are known, will also be described. Many specific genetic mutations are now known in malformation syndromes with a defect in hormonal function. By contrast, the genetic causes remain unknown in many nonhormonal morphological anomalies that affect the genitalia. PMID:24913517

Hutson, John M; Grover, Sonia R; O'Connell, Michele; Pennell, Samuel D

2014-08-01

80

Transition of care for adolescents with disorders of sex development.  

PubMed

Disorders of sex development (DSDs) continue to present many challenges. A clear consensus among clinicians has emerged in paediatric care; however, the same cannot be said of adult care services. Moreover, transition to adult care is a process that takes many years. Although evidence-based models of transitional care do exist in other medical specialities, few studies have been conducted in adolescents with DSDs, and a clear and pressing need exists for further research to guide the care of these patients. A general move towards independence and self-responsibility is common to all transition programmes, but specific issues for those with a DSD include disclosure, genital examinations and potential vaginal treatments. Psychological support underpins the whole transition process for patients with a DSD and encourages an individual approach to develop. In this Perspectives article, we describe the barriers to successful transition in this setting and outline suggestions to overcome them. PMID:24840319

Crouch, Naomi S; Creighton, Sarah M

2014-07-01

81

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...

82

Development of Sex-Trait Stereotypes Among Young Children in the United States, England, and Ireland.  

ERIC Educational Resources Information Center

The Sex Stereotype Measure II (SSM II), a 32-item picture-story technique, was developed to assess children's knowledge of conventional, adult-defined, sex-trait stereotypes. The procedure was based on stereotype characteristics identified by college students using the Adjective Check List item pool. A second procedure, the Sex Attitude Measure…

Best, Deborah L.; And Others

83

Development and Standardization of Instruments Measuring Four Aspects of Sex-Roles in Primary Grade Children  

ERIC Educational Resources Information Center

Two instruments were developed and standardized on first-, second-, and third-grade boys and girls. The Toy Preference Test (TPT) measures sex-role preference, and/or Stereotypic Sex-Role Concepts of masculinity (SRCm) and femininity (SCRf), depending upon the instructions used for administration. The Rating Scale for Children (RSC) taps sex-role…

Newman, Robert C., II

1977-01-01

84

Recent trends in sex mortality ratios for adults in developed countries  

Microsoft Academic Search

This paper analyzes changes in sex mortality ratios between 1979 and 1987 for adults in 23 developed countries. (A sex mortality ratio is the ratio of male to female death rates.) Previous analyses have shown that during the mid-twentieth century sex mortality ratios increased for all adult age groups. During the 1980s sex mortality ratios continued to increase for 25-34

Ingrid Waldron

1993-01-01

85

Steroid abnormalities and the developing brain: Declarative memory for emotionally arousing and neutral material in children with congenital adrenal hyperplasia  

PubMed Central

Summary Steroid hormones modulate memory in animals and human adults. Little is known on the developmental effect of these hormones on the neural networks underlying memory. Using Congenital Adrenal Hyperplasia (CAH) as a naturalistic model of early steroid abnormalities, this study examines the consequences of CAH on memory and its neural correlates for emotionally arousing and neutral material in children. Seventeen patients with CAH and 17 age- and sex-matched healthy children (ages 12 to 14 years) completed the study. Subjects were presented positive, negative and neutral pictures. Memory recall occurred about 30 minutes after viewing the pictures. Children with CAH showed memory deficits for negative pictures compared to healthy children (p < 0.01). There were no group differences on memory performance for either positive or neutral pictures (p’s >0.1). In patients, 24h urinary-free cortisol levels (reflecting glucocorticoid replacement therapy) and testosterone levels were not associated with memory performance. These findings suggest that early steroid imbalances affect memory for negative material in children with CAH. Such memory impairments may result from abnormal brain organization and function following hormonal dysfunction during critical periods of development.

Maheu, Francoise S.; Merke, Deborah P.; Schroth, Elizabeth A.; Keil, Margaret F.; Hardin, Julie; Poeth, Kaitlin; Pine, Daniel S.; Ernst, Monique

2008-01-01

86

Identification of new susceptibility regions for X;Y translocations in patients with testicular disorder of sex development.  

PubMed

Testicular disorder of sex development in the presence of a 46,XX karyotype is a rare condition. In most instances, it is caused by an X;Y translocation in the paternal gametes, causing SRY to be transferred on the X chromosome. An abnormal recombination event between homologous genes PRKX and PRKY is implicated in approximately one third of the cases. In this study, we report the characterization by fluorescence in situ hybridization of four patients with a 46,X,der(X)t(X;Y) constitution: two monozygotic adult twins, one adult male and a young boy. Molecular cytogenetic analyses using BAC clones specific to the X and Y chromosomes revealed that the translocation is not mediated by an abnormal PRKX-PRKY recombination event in any of our patients. On the other hand, the twins and the adult male have similar breakpoints, having almost the entire short arm of the Y chromosome translocated on their der(X). On their der(X) chromosome, breakpoints are located close to PRKX, in an interval of less than 200 kb. As for the young boy, his breakpoints are located approximately 300 kb proximal to SRY, in Yp11.31, and at the beginning of the pseudoautosomal region in Xp22.33. Our data suggest that some regions are prone to breakage on the sex chromosomes and that these regions represent possible hot spots for X;Y translocations that are not mediated by abnormal recombination. PMID:21088380

Beaulieu Bergeron, M; Lemyre, E; Lemieux, N

2011-01-01

87

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

ERIC Educational Resources Information Center

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

Phelps, William R.

88

Measuring Sex-Role Stereotypes: Attitudes Among Hong Kong Chinese Adolescents and the Development of the Chinese Sex-Role Inventory.  

ERIC Educational Resources Information Center

A study with Chinese adolescents in Hong Kong was used to develop the Chinese Sex-Role Inventory (CSRI). The CSRI was constructed following Bem's procedures in his creation of the Bem Sex Role Inventory. (Author/ML)

Keyes, Susan

1984-01-01

89

Disorders of sex development presenting as unilateral cryptorchidism.  

PubMed

Disorders of sex development (DSD) present in different forms but, in most cases, with visible anomalies of the external genitalia. The diagnosis of DSD can have a vast impact on an individual; in addition to concerns about fertility and a higher risk of neoplasia, it may have severe psychosocial impact on the patient. This report presents two apparently healthy cases referred for operation because of unilateral undescended testis. In these two patients, uterine remnants were found during the operation, and underlying DSD conditions were unexpectedly diagnosed. One patient had a 45,X/46,XY mosaic karyotype, while the second patient had persistent müllerian duct syndrome, probably due to an anti-müllerian hormone receptor defect. Both conditions are extremely rare, but the findings reinforce that DSD should be considered in patients with cryptorchidism, especially if other clinical signs are present. PMID:23373508

Østergren, Peter; Juul, Anders; Azawi, Nessn H

2013-10-01

90

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

PubMed

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

Holterhus, P-M

2013-12-01

91

Haploinsufficiency of Parathyroid Hormone-Related Peptide (PTHrP) Results in Abnormal Postnatal Bone Development  

Microsoft Academic Search

Although apparently phenotypically normal at birth, mice heterozygous for inactivation of the gene encoding parathyroid hormone-related peptide (PTHrP) develop haplotype insufficiency by 3 months of age. In addition to histologic and morphologic abnormalities similar to those seen in homozygous mutants, heterozygous animals demonstrated alterations in trabecular bone and bone marrow. These included metaphyseal bone spicules which were diminished in volume,

Norio Amizuka; Andrew C. Karaplis; Janet E. Henderson; Hershey Warshawsky; Mark L. Lipman; Yutaka Matsuki; Sadakazu Ejiri; Mikako Tanaka; Naoya Izumi; Hidehiro Ozawa; David Goltzman

1996-01-01

92

Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency  

PubMed Central

Nuclear lamins are components of the nuclear lamina, a structural scaffolding for the cell nucleus. Defects in lamins A and C cause an array of human diseases, including muscular dystrophy, lipodystrophy, and progeria, but no diseases have been linked to the loss of lamins B1 or B2. To explore the functional relevance of lamin B2, we generated lamin B2-deficient mice and found that they have severe brain abnormalities resembling lissencephaly, with abnormal layering of neurons in the cerebral cortex and cerebellum. This neuronal layering abnormality is due to defective neuronal migration, a process that is dependent on the organized movement of the nucleus within the cell. These studies establish an essential function for lamin B2 in neuronal migration and brain development.

Coffinier, Catherine; Chang, Sandy Y.; Nobumori, Chika; Tu, Yiping; Farber, Emily A.; Toth, Julia I.; Fong, Loren G.; Young, Stephen G.

2010-01-01

93

pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish  

PubMed Central

Human PITX2 mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental disorder that involves ocular anterior segment defects, dental hypoplasia, craniofacial dysmorphism and umbilical abnormalities. Characterization of the PITX2 pathway and identification of the mechanisms underlying the anomalies associated with PITX2 deficiency is important for better understanding of normal development and disease; studies of pitx2 function in animal models can facilitate these analyses. A knockdown of pitx2 in zebrafish was generated using a morpholino that targeted all known alternative transcripts of the pitx2 gene; morphant embryos generated with the pitx2ex4/5 splicing-blocking oligomer produced abnormal transcripts predicted to encode truncated pitx2 proteins lacking the third (recognition) helix of the DNA-binding homeodomain. The morphological phenotype of pitx2ex4/5 morphants included small head and eyes, jaw abnormalities and pericardial edema; lethality was observed at ?6–8-dpf. Cartilage staining revealed a reduction in size and an abnormal shape/position of the elements of the mandibular and hyoid pharyngeal arches; the ceratobranchial arches were also decreased in size. Histological and marker analyses of the misshapen eyes of the pitx2ex4/5 morphants identified anterior segment dysgenesis and disordered hyaloid vasculature. In summary, we demonstrate that pitx2 is essential for proper eye and craniofacial development in zebrafish and, therefore, that PITX2/pitx2 function is conserved in vertebrates.

Liu, Yi; Semina, Elena V.

2012-01-01

94

Patterns of development and abnormalities among tadpoles in a constructed wetland receiving treated wastewater.  

PubMed

Constructed wetlands are promoted for effectiveness at treating wastewater and potential value as wildlife habitat; however, wildlife performance studies in treated wastewater wetlands are limited. We used repeated surveys of larval amphibians along three wetland systems and four reference sites to test the hypothesis that bullfrog tadpoles exposed to direct inputs of treated wastewater develop slower, show a higher frequency of abnormalities, and are smaller at metamorphosis compared to tadpoles from reference ponds. Bullfrog tadpoles from wastewater wetlands were similar in size at metamorphosis compared to tadpoles from reference sites; however, they did show a much higher frequency of abnormalities including severe edema, scoliosis, and extreme calcinosis of soft tissues. Calcinosis was novel to the literature on amphibian abnormalities, the most frequent abnormality, and restricted exclusively to treatment wetlands. Within the constructed wetlands, tadpole development was slower and the frequency of scoliosis and calcinosis was higher in those cells receiving direct inputs of treated wastewater. Our results suggest that portions of constructed wetlands that directly receive treated wastewater may be poor amphibian habitat. PMID:20540544

Ruiz, Alina M; Maerz, John C; Davis, Andrew K; Keel, M Kevin; Ferreira, Andrew R; Conroy, Michael J; Morris, Lawrence A; Fisk, Aaron T

2010-07-01

95

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

96

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

97

Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD).  

PubMed

Isodicentric chromosome formation is the most common structural abnormality of the Y chromosome. As dicentrics are mitotically unstable, they are subsequently lost during cell division resulting in mosaicism with a 45,X cell line. We report on six patients with variable signs of disorders of sex development (DSD) including ambiguous genitalia, short stature, primary amenorrhea, and male infertility with azoospermia. Cytogenetic studies showed the presence of a sex chromosome marker in all patients; associated with a 45,X cell line in five of them. Fluorescence in situ hybridization (FISH) technique was used to determine the structure and the breakage sites of the markers that all proved to be isodicentric Y chromosomes. Three patients, were found to have similar breakpoints: idic Y(qter? p11.32:: p11.32? qter), two of them presented with ambiguous genitalia and were found to have ovotesticular DSD, while the third presented with short stature and hypomelanosis of Ito. One female patient presenting with primary amenorrhea, Turner manifestations and ambiguous genitalia revealed the breakpoint: idic Y (pter?q11.1::q11.1?pter). The same breakpoint was detected in a male with azoospermia but in non-mosaic form. An infant with ambiguous genitalia and mixed gonadal dysgenesis (MGD) had the breakpoint at Yq11.2: idic Y(pter?q11.2::q11.2?pter). SRY signals were detected in all patients. Sequencing of the SRY gene was carried out for three patients with normal results. This study emphasizes the importance of FISH analysis in the diagnosis of patients with DSD as well as the establishment of the relationship between phenotype and karyotype. PMID:22628100

Mekkawy, Mona; Kamel, Alaa; El-Ruby, Mona; Mohamed, Amal; Essawi, Mona; Soliman, Hala; Dessouky, Nabil; Shehab, Marwa; Mazen, Inas

2012-07-01

98

Incidences of menstrual cycle abnormalities in adolescence, and matches between the age at menarche and the development of menstrual cycle abnormalities.  

PubMed

In this study the clinical data of all girls who visited the ambulance for paediatric and adolescent gynaecology at the university clinic for gynaecology and obstetrics in Vienna between 2001 and 2008 because of menstrual cycle abnormalities were used (n = 255). Most frequently, the girls suffered from dysmenorrhoea (29%), tempoanomaly (24%) and metrorrhagia (19%). For 57%, it was possible to find an underlying cause, mainly (24%) a hormonal one. The therapy was in 54% of all cases hormonal. In a second step, the study analyses matches between the age at menarche and the development of menstrual cycle abnormalities. Girls with primary amenorrhoea were excluded (n = 219). The study shows that every age of menarche has its special kind of menstrual cycle abnormality. Only if the menarche had set in at the age of 16, two kinds were named with equal frequency. PMID:20812052

Art, Mercedes Juliana; Doerfler, Daniela

2010-08-01

99

Chronic Exposure of Mutant DISC1 Mice to Lead Produces Sex-Dependent Abnormalities Consistent With Schizophrenia and Related Mental Disorders: A Gene-Environment Interaction Study.  

PubMed

The glutamatergic hypothesis of schizophrenia suggests that hypoactivity of the N-methyl-d-aspartate receptor (NMDAR) is an important factor in the pathophysiology of schizophrenia and related mental disorders. The environmental neurotoxicant, lead (Pb(2+)), is a potent and selective antagonist of the NMDAR. Recent human studies have suggested an association between prenatal Pb(2+) exposure and the increased likelihood of schizophrenia later in life, possibly via interacting with genetic risk factors. In order to test this hypothesis, we examined the neurobehavioral consequences of interaction between Pb(2+) exposure and mutant disrupted in schizophrenia 1 (mDISC1), a risk factor for major psychiatric disorders. Mutant DISC1 and control mice born by the same dams were raised and maintained on a regular diet or a diet containing moderate levels of Pb(2+). Chronic, lifelong exposure of mDISC1 mice to Pb(2+) was not associated with gross developmental abnormalities but produced sex-dependent hyperactivity, exaggerated responses to the NMDAR antagonist, MK-801, mildly impaired prepulse inhibition of the acoustic startle, and enlarged lateral ventricles. Together, these findings support the hypothesis that environmental toxins could contribute to the pathogenesis of mental disease in susceptible individuals. PMID:23716713

Abazyan, Bagrat; Dziedzic, Jenifer; Hua, Kegang; Abazyan, Sofya; Yang, Chunxia; Mori, Susumu; Pletnikov, Mikhail V; Guilarte, Tomas R

2014-05-01

100

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.

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

2014-01-01

101

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.

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

2007-01-01

102

Abnormal endosperm development causes female sterility in rice insertional mutant OsAPC6.  

PubMed

A T-DNA insertional mutant OsAPC6 of rice, with gibberellic acid insensitivity and reduced height, had up to 45% reduced seed set. The insertion occurred on chromosome 3 of rice in the gene encoding one of the subunits of anaphase promoting complex/Cyclosome APC6. The primary mother cells of the mutant plants had normal meiosis, male gametophyte development and pollen viability. Confocal laser scanning microscopic (CLSM) studies of megagametophyte development showed abnormal mitotic divisions with reduced number or total absence of polar nuclei in about 30-35% megagametophytes of OsAPC6 mutant leading to failure of endosperm and hence embryo and seed development. Abnormal female gametophyte development, high sterility and segregation of tall and gibberellic acid sensitive plants without selectable marker Hpt in the selfed progeny of OsAPC6 mutant plants indicate that the mutant could be maintained in heterozygous condition. The abnormal mitotic divisions during megagametogenesis could be attributed to the inactivation of the APC6/CDC16 of anaphase promoting complex of rice responsible for cell cycle progression during megagametogenesis. Functional validation of the candidate gene through transcriptome profiling and RNAi is in progress. PMID:22195590

Awasthi, Anjali; Paul, Priyanka; Kumar, Satish; Verma, Shailendra Kumar; Prasad, R; Dhaliwal, H S

2012-02-01

103

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.

Takei, Nobuyuki; Nawa, Hiroyuki

2014-01-01

104

Assessing attitude toward same-sex marriage: scale development and validation.  

PubMed

This paper reports the results of three studies conducted to develop, refine, and validate a scale which assessed heterosexual adults' attitudes toward same-sex marriage, the Attitude Toward Same-Sex Marriage Scale (ASSMS). The need for such a scale is evidenced in the increasing importance of same-sex marriage in the political arena of the United States and other nations, as well as the growing body of empirical research examining same-sex marriage and related issues (e.g., Lannutti, 2005; Solomon, Rothblum, & Balsam, 2004). The results demonstrate strong reliability, convergent validity, and predictive validity for the ASSMS and suggest that the ASSMS may be adapted to measure attitudes toward civil unions and other forms of relational recognition for same-sex couples. Gender comparisons using the validated scale showed that in college and non-college samples, women had a significantly more positive attitude toward same-sex marriage than did men. PMID:18689194

Lannutti, Pamela J; Lachlan, Kenneth A

2007-01-01

105

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

PubMed

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

Seidel, George E

2013-11-01

106

Professional Development Programs for Sex Equity in Vocational Education. Information Series No. 148.  

ERIC Educational Resources Information Center

One of a series of sixteen knowledge transformation papers, this paper reviews that state-of-the-art of professional development as it relates to sex equity in vocational education. First, the problem of sex discrimination is presented with statistics showing the number of women currently working and the number who are heads of their households.…

Verheyden-Hilliard, Mary Ellen

107

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

ERIC Educational Resources Information Center

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

Butcher, Janice E.

1989-01-01

108

Son Preference, Sex Selection and Economic Development: Theory and Evidence from South Korea  

Microsoft Academic Search

Motivated by high and rising sex ratios in countries such as India and China, we formulate a theoretical framework for analyzing the impact of economic development on parental sex choice when sons are culturally prized and children provide old age support. Two key assumptions drive our model. First, the cultural valuation of children vary not only with gender but also

Lena Edlund; Chulhee Lee

2009-01-01

109

Traditional sex role development and amount of time spent watching television  

Microsoft Academic Search

Tested the hypothesis that the amount of time spent watching TV is significantly related to the strength of traditional sex-role development. Data from 80 kindergartners and 2nd, 4th, and 6th graders support the hypothesis and suggest that this relationship holds equally for both sexes and does not change with increasing age.

Terry Frueh; Paul E. McGhee

1975-01-01

110

The Community Attitudes toward Sex Offenders Scale: The Development of a Psychometric Assessment Instrument  

ERIC Educational Resources Information Center

Objectives: The objective of this study was to examine the nature of individual attitudes toward sex offenders. Because the term "sex offender" tends to evoke strong emotions, and given that open-ended self reports tend to be highly subjective, particularly in the context of such pointed terminology, this study sought to develop an attitude…

Church, Wesley T., II; Wakeman, Emily E.; Miller, Sarah L.; Clements, Carl B.; Sun, Fei

2008-01-01

111

Adolescent girls' sex role development: Relationship with sports participation, self-esteem, and age at menarche  

Microsoft Academic Search

This study investigated the development of sex role orientation among adolescent girls, and explored its relationship with sports participation, self-esteem, and age at menarche. The instruments were administered to 134 girls yearly from Grades 6 to 10 (ages 11 to 15). The results obtained with the Bem Sex Role Inventory showed group mean increases in the masculine and feminine scale

Janice E. Butcher

1989-01-01

112

Sex Differences in the Development of Verbal and Mathematics Constructs: The High School and Beyond Study  

Microsoft Academic Search

Sex differences in the development of verbal and mathematics constructs (achievement, attitudes, and course selection) were examined with the High School and Beyond (HS&B) data. Longitudinal path models were tested using both multiple regression and structural equation modeling. Sex differences were typically small and determinants of the verbal and mathematics constructs were similar for boys and for girls. Because the

Herbert W. Marsh

1989-01-01

113

Issues on Self-Concept and Sex-Role Development in Japan.  

ERIC Educational Resources Information Center

Discussed are aspects of sex-role development in Japanese adolescents and some related problems, such as self-concept and socialization processes. Various studies on Japanese adolescents have revealed substantial sex differences in self-esteem, which is significantly low in girls. In addition to differences in self-esteem, greater discrepancy…

Kashiwagi, Keiko

114

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...

115

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

116

New guidance\\/old problems: recent developments in sex education  

Microsoft Academic Search

Sex education is a controversial area of public policy and over the last 20 years it has also been highly politicized. The election of the Labour government in 1997 raised the hopes of children's rights and health campaigners for a move away from the traditional moralistic approach adopted by the previous administration in favour of a more progressive and pragmatic

Daniel Monk

2001-01-01

117

Sex hormone-binding globulin and male sexual development  

Microsoft Academic Search

The masculinization of the brain, reproductive tract and many other structures is critically dependent on the testicular hormone, testosterone (T). In many species, T circulates bound with high affinity to sex hormone-binding globulin (SHBG). This protein has a wide phylogenetic distribution and SHBG or SHBG-like proteins are produced by the liver, testes, placenta, brain and other tissues. SHBG activity is

D. A. Damassa; J. M. Cates

1995-01-01

118

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

PubMed Central

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

2011-01-01

119

Impact of sex and hormones on new cells in the developing rat hippocampus: a novel source of sex dimorphism?  

PubMed Central

The hippocampus is a key brain region regulating complex cognitive and emotional responses, and is implicated in the etiology of depressive and anxiety disorders, many of which exhibit some degree of sex difference. The male rat hippocampus is consistently reported to be slightly but significantly larger than the female. The majority of studies on the development of volumetric sex differences have focused on the effects of estradiol (E2), with relatively few focusing on androgens. We examined the impact of both E2 and androgens on newly born cells in the developing rat hippocampus, and report that neonatal males have significantly more 5-bromo-2?-deoxyuridine-5?-monophosphate (BrdU)+ cells than females. Both testosterone (T) and dihydrotestosterone treatment of females significantly increased the number of BrdU+ cells, an effect blocked by the androgen receptor antagonist, flutamide. However, only T significantly increased the number of neuronal nuclear antigen+ neurons in the female rat hippocampus. Interestingly, E2 treatment also increased BrdU+ cells in females, but had no effect on neuron number. Instead, E2 and T significantly increased the number of newly born glial fibrillary acidic protein or glutamine synthetase+ glial cells in females, indicating that androgens and E2 may act independently to achieve distinct endpoints. Quantification of pyknotic cells at two different developmental time points indicates no sex difference in the number of cells dying, suggesting, but not proving, that gonadal steroids are promoting cell genesis.

Zhang, Jian-Min; Konkle, Anne T. M.; Zup, Susan L.; McCarthy, Margaret M.

2009-01-01

120

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

PubMed Central

Background Children whose mothers consumed alcohol during pregnancy exhibit widespread brain abnormalities and a complex array of behavioral disturbances. Here, we used a mouse model of fetal alcohol exposure to investigate relationships between brain abnormalities and specific behavioral alterations during adulthood. Results Mice drank a 10% ethanol solution throughout pregnancy. When fetal alcohol-exposed offspring reached adulthood, we used high resolution MRI to conduct a brain-wide screen for structural changes and found that the largest reduction in volume occurred in the olfactory bulbs. Next, we tested adult mice in an associative olfactory task and found that fetal alcohol exposure impaired discrimination between similar odors but left odor memory intact. Finally, we investigated olfactory bulb neurogenesis as a potential mechanism by performing an in vitro neurosphere assay, in vivo labeling of new cells using BrdU, and in vivo labeling of new cells using a transgenic reporter system. We found that fetal alcohol exposure decreased the number of neural precursor cells in the subependymal zone and the number of new cells in the olfactory bulbs during the first few postnatal weeks. Conclusions Using a combination of techniques, including structural brain imaging, in vitro and in vivo cell detection methods, and behavioral testing, we found that fetal alcohol exposure results in smaller olfactory bulbs and impairments in odor discrimination that persist into adulthood. Furthermore, we found that these abnormalities in olfactory bulb structure and function may arise from deficits in the generation of new olfactory bulb neurons during early postnatal development.

2011-01-01

121

Isolation and development of a molecular sex marker for Bassiana duperreyi, a lizard with XX/XY sex chromosomes and temperature-induced sex reversal.  

PubMed

Sex determination in the endemic Australian lizard Bassiana duperreyi (Scincidae) is influenced by sex chromosomes and incubation temperature, challenging the traditional dichotomy in reptilian sex determination. Analysis of those interactions requires sex chromosome markers to identify temperature-induced sex reversal. Here, we report the isolation of Y chromosome DNA sequence from B. duperreyi using amplified fragment length polymorphism PCR, the conversion of that sequence to a single-locus assay, and its combination with a single-copy nuclear gene (C-mos) to form a duplex PCR test for chromosomal sex. The accuracy of the assay was tested on an independent panel of individuals with known phenotypic sex. When used on offspring from field nests, our test identified the likely occurrence of a low rate of natural sex reversal in this species. This work represents the first report of Y chromosome sequence from a reptile and one of the few reptile sex tests. PMID:19277717

Quinn, Alexander E; Radder, Rajkumar S; Sarre, Stephen D; Georges, Arthur; Ezaz, Tariq; Shine, Richard

2009-06-01

122

Differentiating between parthenogenetic and "positive development" embryos in turkeys by molecular sexing.  

PubMed

In mated or inseminated turkeys, 5 to 15% of eggs set for incubation show only rudimentary development. Most of these embryos die during the first 24 to 48 h of incubation and contain only unorganized sheets of tissue. This abnormal development is termed "positive development" (PD). Turkey eggs also show incidence of parthenogenesis and the resulting progeny is believed to be always male. As both types of embryos are morphologically similar at the early stage of incubation, it has been speculated that PD embryos may in fact be parthenogens. By identifying the sex at the blastodermal stage with the help of DNA markers, we have differentiated between the PD embryos and parthenogens. Parthenogenetic embryos were obtained from eggs laid by uninseminated or virgin Beltsville Small White (BSW) hens, and the PD embryos were obtained from eggs of inseminated Nicholas and British United Turkeys of America (BUTA) hens. DNA was extracted from blastoderms of parthenogenetic and PD embryos. Turkey W-chromosome specific DNA probe and primers were used to detect females in all samples by Southern blot and polymerase chain reaction (PCR), respectively. No female was detected among the 35 parthenogens examined, whereas there were 3 females among the 11 PD embryos. The presence of both males and females among PD embryos suggests that they are products of fertilization, and that at least these 3 female embryos, if not all the 11 PD embryos, are not of parthenogenetic origin. It is concluded, therefore, that PD embryos result from errors in fertilization or from early embryonic mortality following successful fertilization, and that they are unlikely to be of parthenogenetic origin. PMID:9776051

Cassar, G; Mohammed, M; John, T M; Gazdzinski, P; Etches, R J

1998-10-01

123

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.

Budday, Silvia; Raybaud, Charles; Kuhl, Ellen

2014-01-01

124

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

PubMed

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

125

The Development of a Psycho-Educational Group Program for Adolescent Sex Offenders.  

ERIC Educational Resources Information Center

Proposed to develop and evaluate a psychoeducational group program for adolescent male sex offenders. Program participants (n=17) showed increased sexual knowledge, improved psychological attitudes, and improved problem-solving ability, but no improvement in moral judgment. (Author/ABB)

Hains, Anthony A.; And Others

1986-01-01

126

[Disorders of sex chromosome].  

PubMed

Disorders of sex chromosome, X and Y, consist of abnormality of the number or structure of the sex chromosome. Because sex chromosomes have a variety of genes related to sexual differentiation, disorders of sex chromosome induce a variety of disorders of sexual differentiation. At first, in this title, the process of normal sexual differentiation is shown. Classical disorders of sex chromosome are Klinefelter syndrome, XX male, XYY male, Turner syndrome, XXX female, and XY female. True hermphroiditism, mixed gonadal dysgenesis, and pure gonadal dysgenesis are also included, because most of these disorders have abnormal sex chromosome. Molecular analysis of sex chromosome is clarifying disorders with a minute abnormality of sex chromosome. They include male infertility, premature ovarian failure, and fragile X syndrome. Explanations of the above disorders are given briefly. PMID:9396296

Namiki, M; Koh, E

1997-11-01

127

Latrunculin A Treatment Prevents Abnormal Chromosome Segregation for Successful Development of Cloned Embryos  

PubMed Central

Somatic cell nuclear transfer to an enucleated oocyte is used for reprogramming somatic cells with the aim of achieving totipotency, but most cloned embryos die in the uterus after transfer. While modifying epigenetic states of cloned embryos can improve their development, the production rate of cloned embryos can also be enhanced by changing other factors. It has already been shown that abnormal chromosome segregation (ACS) is a major cause of the developmental failure of cloned embryos and that Latrunculin A (LatA), an actin polymerization inhibitor, improves F-actin formation and birth rate of cloned embryos. Since F-actin is important for chromosome congression in embryos, here we examined the relation between ACS and F-actin in cloned embryos. Using LatA treatment, the occurrence of ACS decreased significantly whereas cloned embryo-specific epigenetic abnormalities such as dimethylation of histone H3 at lysine 9 (H3K9me2) could not be corrected. In contrast, when H3K9me2 was normalized using the G9a histone methyltransferase inhibitor BIX-01294, the Magea2 gene—essential for normal development but never before expressed in cloned embryos—was expressed. However, this did not increase the cloning success rate. Thus, non-epigenetic factors also play an important role in determining the efficiency of mouse cloning.

Terashita, Yukari; Yamagata, Kazuo; Tokoro, Mikiko; Itoi, Fumiaki; Wakayama, Sayaka; Li, Chong; Sato, Eimei; Tanemura, Kentaro; Wakayama, Teruhiko

2013-01-01

128

Researching domestic violence in same-sex relationships--a feminist epistemological approach to survey development.  

PubMed

The article draws on recently completed research by the authors, involving a detailed study of love and intimate partner violence in same-sex and heterosexual relationships (funded by the ESRC, award RES-000-23-0650). The research, hitherto the most detailed study of its kind in the United Kingdom, included a national same-sex community survey (n = 800) plus four focus groups and interviews with 67 individuals identifying as lesbian, gay, queer, bisexual, transgender, or heterosexual. The article discusses in particular the development of the same-sex community survey, focusing on the epistemological and methodological implications of using a feminist approach. PMID:19363762

Hester, Marianne; Donovan, Catherine

2009-01-01

129

Gadd45g Is Essential for Primary Sex Determination, Male Fertility and Testis Development  

PubMed Central

In humans and most mammals, differentiation of the embryonic gonad into ovaries or testes is controlled by the Y-linked gene SRY. Here we show a role for the Gadd45g protein in this primary sex differentiation. We characterized mice deficient in Gadd45a, Gadd45b and Gadd45g, as well as double-knockout mice for Gadd45ab, Gadd45ag and Gadd45bg, and found a specific role for Gadd45g in male fertility and testis development. Gadd45g-deficient XY mice on a mixed 129/C57BL/6 background showed varying degrees of disorders of sexual development (DSD), ranging from male infertility to an intersex phenotype or complete gonadal dysgenesis (CGD). On a pure C57BL/6 (B6) background, all Gadd45g?/? XY mice were born as completely sex-reversed XY-females, whereas lack of Gadd45a and/or Gadd45b did not affect primary sex determination or testis development. Gadd45g expression was similar in female and male embryonic gonads, and peaked around the time of sex differentiation at 11.5 days post-coitum (dpc). The molecular cause of the sex reversal was the failure of Gadd45g?/? XY gonads to achieve the SRY expression threshold necessary for testes differentiation, resulting in ovary and Müllerian duct development. These results identify Gadd45g as a candidate gene for male infertility and 46,XY sex reversal in humans.

Johnen, Heiko; Gonzalez-Silva, Laura; Carramolino, Laura; Flores, Juana Maria; Torres, Miguel; Salvador, Jesus M.

2013-01-01

130

In Honor of Sex Roles : Reflections on the History and Development of the Journal  

Microsoft Academic Search

This article celebrates 35 years of Sex Roles’ contributions to research and other scholarship about gender. It begins with a reminder of what academia was like prior to\\u000a the rise of second-wave feminism and shows how Sex Roles contributed to changing that androcentric climate. The article describes the founding of the journal and traces its growth\\u000a and development, including its internationalization.

Joan C. Chrisler

2010-01-01

131

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

132

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

PubMed Central

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

Keil, Margaret F.; Stratakis, Constantine A.

2011-01-01

133

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.

134

Abnormal laminar position and dendrite development of interneurons in the reeler forebrain.  

PubMed

The majority of cortical and hippocampal interneurons originate in the subcortical telencephalon and migrate tangentially into pallial regions before settling in various cortical layers. The molecular cues that regulate final positioning of specific interneurons in cortical structures have not yet been identified. The positioning of radially migrating principal neurons of the cortex and hippocampus depends upon Reelin, an extracellular protein expressed near the pial surface during embryonic development that is absent in reeler mutant mice. To determine whether the layer specification of interneurons, like that of principal neurons, requires Reelin, we crossed reeler with transgenic mice that contain Green Fluorescent Protein (GFP)-expressing Inhibitory Neurons (GINs). These neurons express basal forebrain markers Dlx1/2 in normal and reeler mice. In normal mice, GINs express Reelin and are localized to specific layers of the cortex and hippocampus. In reeler mutant mice, we show that GINs migrate normally into the pallium, but fail to acquire proper layer position. Double labeling experiments indicate that the neurochemical profile of these interneurons is not generally altered in reeler mice. However, the extension of their cellular processes is abnormal. Quantitative analysis of GINs in the cortex revealed that they are hypertrophic, bearing longer neuritic branches than normal. Thus, the lack of Reelin signaling results in abnormal positioning and altered morphology of forebrain interneurons. PMID:16996039

Yabut, Odessa; Renfro, Amy; Niu, Sanyong; Swann, John W; Marín, Oscar; D'Arcangelo, Gabriella

2007-04-01

135

Abnormal cortical development; towards elucidation of the LIS1 gene product function (review).  

PubMed

Lissencephaly is a relatively common brain malformation. Lissencephaly type 1 is characterized by the smooth appearance of the cortex and the presence of four abnormally positioned layers instead of the normal six. Lissencephaly is considered to be an abnormality in neuronal migration. The gene mutated in type 1 lissencephaly was cloned by us and designated LIS1. Recently, several genes involved in cortical development have been cloned in the mouse. In human an additional X-linked lissencephaly gene has been identified. We summarize here our current knowledge on the LIS1 gene and its function. It has been identified as a non-catalytic subunit of PAF-acetylhydrolase, a heterotrimeric enzyme which inactivates the platelet-activating factor (PAF). In addition, we have demonstrated that LIS1 interacts with tubulin, and affects the dynamics properties of microtubles. LIS1 contains seven WD repeats and may structurally resemble the beta-subunit of heterotrimeric G proteins. Interestingly, the catalytic subunit of PAF-acetylhydrolase was found to resemble the alpha subunit of heterotrimeric G proteins. We raise the possibility that LIS1 is part of an intracellular signaling pathway involved in neuronal migration. PMID:9852306

Reiner, O; Sapir, T

1998-05-01

136

Abnormal Placental Development and Early Embryonic Lethality in EpCAM-Null Mice  

PubMed Central

Background EpCAM (CD326) is encoded by the tacstd1 gene and expressed by a variety of normal and malignant epithelial cells and some leukocytes. Results of previous in vitro experiments suggested that EpCAM is an intercellular adhesion molecule. EpCAM has been extensively studied as a potential tumor marker and immunotherapy target, and more recent studies suggest that EpCAM expression may be characteristic of cancer stem cells. Methodology/Principal Findings To gain insights into EpCAM function in vivo, we generated EpCAM ?/? mice utilizing an embryonic stem cell line with a tacstd1 allele that had been disrupted. Gene trapping resulted in a protein comprised of the N-terminus of EpCAM encoded by 2 exons of the tacstd1 gene fused in frame to ?geo. EpCAM +/? mice were viable and fertile and exhibited no obvious abnormalities. Examination of EpCAM +/? embryos revealed that ?geo was expressed in several epithelial structures including developing ears (otocysts), eyes, branchial arches, gut, apical ectodermal ridges, lungs, pancreas, hair follicles and others. All EpCAM ?/? mice died in utero by E12.5, and were small, developmentally delayed, and displayed prominent placental abnormalities. In developing placentas, EpCAM was expressed throughout the labyrinthine layer and by spongiotrophoblasts as well. Placentas of EpCAM ?/? embryos were compact, with thin labyrinthine layers lacking prominent vascularity. Parietal trophoblast giant cells were also dramatically reduced in EpCAM ?/? placentas. Conclusion EpCAM was required for differentiation or survival of parietal trophoblast giant cells, normal development of the placental labyrinth and establishment of a competent maternal-fetal circulation. The findings in EpCAM-reporter mice suggest involvement of this molecule in development of vital organs including the gut, kidneys, pancreas, lungs, eyes, and limbs.

Nagao, Keisuke; Zhu, Jianjian; Heneghan, Mallorie B.; Hanson, Jeffrey C.; Morasso, Maria I.; Tessarollo, Lino; Mackem, Susan; Udey, Mark C.

2009-01-01

137

Sex-related changes in estrogen receptors and aromatase gene expression and enzymatic activity during early development and sex differentiation in the European sea bass (Dicentrarchus labrax).  

PubMed

The present study addresses the role of aromatase and estrogen receptors in sex differentiation and development. With this purpose, a sea bass female- and a male-dominant group were obtained by successive size gradings since in this species females are already larger than males at the time of sex differentiation. Changes in cyp19a and cyp19b gene expression and enzymatic activity were monitored by a validated real-time PCR and a tritiated water assay, respectively, during early development and sex differentiation. Changes in mRNA expression of estrogen receptors, both erb1 and erb2, were also assessed during this period. Results show clear sex-related differences in cyp19a gene expression and enzymatic activity in gonads, with females exhibiting significantly higher levels than males at 150 days post hatching (DPH), when histological signs of sex differentiation were evident. cyp19b gene expression and activity in brain were detectable during early ontogenesis at 50 DPH but no clear sex-related differences were observed. Both erb1 and erb2 showed higher gene expression levels in testis than in ovaries around 200-250 DPH, corresponding with the time of testicular differentiation and precocious male maturation, but no sex-related differences were found in the brain. Together these results indicate that in the European sea bass high expression levels of cyp19a are associated with ovarian differentiation and thus cyp19a can be considered as a suitable molecular marker of ovarian differentiation. However, the involvement of cyp19b in sex differentiation cannot be concluded. In addition, the higher levels of erb1 and erb2 in males versus females during sex differentiation, coinciding with precocious male maturation in the sea bass, suggest an important role for these receptors in testicular development and maturation. PMID:18573255

Blázquez, Mercedes; González, Alicia; Papadaki, Maria; Mylonas, Constantinos; Piferrer, Francesc

2008-08-01

138

Characteristics of Activities That Affect the Development of Women's Same-Sex Relationships.  

PubMed

The author utilized semistructured interviews with 56 women to explore how a wide range of activities affected the development of the participants' same-sex attractions and relationships. The researcher was able to identify and describe some aspects of the process by which eight characteristics of activities that are more or less present in various social contexts have the potential to impact whether these contexts are more or less conducive or hindering to the development of women's same-sex attractions and relationships. Activities were more apt to nurture the development of the participants' same-sex attractions and relationships when the activity (a) included lesbians, (b) was composed primarily of women, (c) affirmed women, (d) facilitated bonding, (e) featured a climate of acceptance of lesbians/gays/bisexuals, (f) did not feature a climate that emphasized heteronormativity, (g) was perceived as gender neutral, and (h) generated or drew participants who were similar to each other. PMID:24885468

Davis-Delano, Laurel R

2014-10-01

139

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 SocietyÃÂs 2007 Frontiers in Physiology Program. For more information on this program, please visit www.frontiersinphys.org.

Kathleen Caslow (Episcopal High School)

2007-08-01

140

The Role of Sex Chromosome Chimerism in Altering Sexual Development of Mammals  

Microsoft Academic Search

Thirteen bovine females, twins to males, were examined in a study of the variability of the freemartin syndrome. The range of intersexuality was from foreshortened uterine horns in the least masculine to complete absence of Müllerian derivatives and development of accessory sex glands in the most masculine. Histological examination revealed no follicular development in the gonads, although juvenile ovarian stroma

M. S. Herschler; N. S. Fechheimer

1967-01-01

141

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

142

Sex-dependent expression of caveolin 1 in response to sex steroid hormones is closely associated with development of obesity in rats.  

PubMed

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

143

Normal and Abnormal Development of Motor Behavior: Lessons From Experiments in Rats  

PubMed Central

In this essay a few relevant aspects of the neural and behavioral development of the brain in the human and in the rat are reviewed and related to the consequences of lesions in the central and peripheral nervous system at early and later age. Movements initially are generated by local circuits in the spinal cord and without the involvement of descending projections. After birth, both in humans and in rats it seems that the devlopment of postural control is the limiting factor for several motor behaviors to mature. Strong indications exist that the cerebellum is significantly involved in this control. Lesions in the CNS at early stages interfere with fundamental processes of neural development, such as the establishment of fiber connections and cell death patterns. Consequently, the functional effects are strongly dependent on the stage of development. The young and undisturbed CNS, on the other hand, has a much greater capacity than the adult nervous system for compensating abnormal reinnervation in the peripheral nervous system. Animal experiments indicated that the cerebellar cortex might play an important part in this compensation. This possibility should be investigated further as it might offer important perspectives for treatment in the human.

Gramsbergen, Albert

2001-01-01

144

Abnormal sympathetic nervous system development and physiologic dysautonomia in Egr3-deficient mice  

PubMed Central

Summary Sympathetic nervous system development depends upon many factors that mediate neuron migration, differentiation and survival. Target tissue-derived nerve growth factor (NGF) signaling-induced gene expression is required for survival, differentiation and target tissue innervation of post-migratory sympathetic neurons. However, the transcriptional regulatory mechanisms mediated by NGF signaling are very poorly defined. Here, we identify Egr3, a member of the early growth response (Egr) family of transcriptional regulators, to have an important role in sympathetic nervous system development. Egr3 is regulated by NGF signaling and it is expressed in sympathetic neurons during development when they depend upon NGF for survival and target tissue innervation. Egr3-deficient mice have severe sympathetic target tissue innervation abnormalities and profound physiologic dysautonomia. Unlike NGF which is essential for sympathetic neuron survival and axon branching within target tissues, Egr3 is required for normal terminal axon extension and branching, but not neuron survival. The results indicate that Egr3 is a novel NGF signaling effector which regulates sympathetic neuron gene expression required for normal target tissue innervation and function. Egr3-deficient mice have a phenotype that is remarkably similar to humans with sympathetic nervous system disease, raising the possibility that it may have a role in some forms of human dysautonomia, most of which have no known cause.

Eldredge, Laurie C.; Gao, Xiaoguang M.; Quach, David; Li, Lin; Han, Xiaoqiang; Lomasney, Jon; Tourtellotte, Warren G.

2008-01-01

145

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.

2014-01-01

146

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

PubMed Central

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

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

2011-01-01

147

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.

148

Development of pulmonary arterial hypertension in women: interplay of sex hormones and pulmonary vascular disease  

PubMed Central

Pulmonary arterial hypertension (PAH) is a progressive disease of the pulmonary vasculature, ultimately resulting in right heart failure and death. This disease is strongly predominant in females, although little is known regarding how sex influences disease development. Recent developments highlighting the importance of estrogen metabolites in both animal models and human disease have substantially increased our understanding of PAH in women. This review will focus on general knowledge of PAH, translational and basic science data regarding sex hormones in the pulmonary vasculature and on clinical issues that are particular to women with PAH. Future directions for study include the influence of sex hormones on right ventricular responses, improving the understanding of the influence of estrogen exposure in human disease and the study of dehydroepiandrosterone in basic science and human disease.

Pugh, Meredith E; Hemnes, Anna R

2010-01-01

149

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

PubMed

Although the development of abnormal myocardial mechanics represents a key step during the transition from hypertension to overt heart failure (HF), the underlying ultrastructural and cellular basis of abnormal myocardial mechanics remains unclear. We therefore investigated how changes in transverse (T)-tubule organization and the resulting altered intracellular Ca(2+) cycling in large cell populations underlie the development of abnormal myocardial mechanics in a model of chronic hypertension. Hearts from spontaneously hypertensive rats (SHRs; n = 72) were studied at different ages and stages of hypertensive heart disease and early HF and were compared with age-matched control (Wistar-Kyoto) rats (n = 34). Echocardiography, including tissue Doppler and speckle-tracking analysis, was performed just before euthanization, after which T-tubule organization and Ca(2+) transients were studied using confocal microscopy. In SHRs, abnormalities in myocardial mechanics occurred early in response to hypertension, before the development of overt systolic dysfunction and HF. Reduced longitudinal, circumferential, and radial strain as well as reduced tissue Doppler early diastolic tissue velocities occurred in concert with T-tubule disorganization and impaired Ca(2+) cycling, all of which preceded the development of cardiac fibrosis. The time to peak of intracellular Ca(2+) transients was slowed due to T-tubule disruption, providing a link between declining cell ultrastructure and abnormal myocardial mechanics. In conclusion, subclinical abnormalities in myocardial mechanics occur early in response to hypertension and coincide with the development of T-tubule disorganization and impaired intracellular Ca(2+) cycling. These changes occur before the development of significant cardiac fibrosis and precede the development of overt cardiac dysfunction and HF. PMID:24186100

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

2014-01-01

150

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

PubMed Central

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

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

2014-01-01

151

A Brief History of the Development of Abnormal Psychology, a Training Guide.  

National Technical Information Service (NTIS)

The material is presented particularly for practitioners, but academicians should find the material of help and value, also, for introductory courses to study of clinical psychology, abnormal psychology, and psychopathology. Areas covered include the foll...

W. R. Phelps

1974-01-01

152

Effects of cohort, sex, and birth date on body development of roe deer ( Capreolus capreolus ) fawns  

Microsoft Academic Search

We investigated the effects of the year of birth (cohort effect), sex and birth date on the variations observed in birth weight and postnatal growth rate in 209 newborn fawns marked during eight consecutive fawning seasons from a highly productive roe deer population under good nutritional conditions. Roe deer exhibited a fast body development with a birth weight of 1628

J. M. Gaillard; D. Delorme; J. M. Jullien

1993-01-01

153

Ego development and sex attitudes in heterosexual and homosexual men and women  

Microsoft Academic Search

A comparison was made of heterosexual and homosexual men and women utilizing Loevinger's concept of ego development and focusing on the relationships among ego levels and attitudes toward homosexuality and on personal sex guilt and other sociosexual variables. Previous comparative studies were critically analyzed with respect to the adequacy of definition and description of sampling procedures, and the appropriateness of

Charles B. Weis; Robert N. Dain

1979-01-01

154

Socialization, Culture and Ecology in the Development of Group and Sex Differences in Cognitive Style  

Microsoft Academic Search

An overview is given of the theory of psychological differentiation and particularly of its field-dependence-independence cognitive-style component. Recent cross-cultural research on the roles of child-rearing, culture and ecology in the development of individual, group and sex differences in cognitive style is reviewed.Copyright © 1979 S. Karger AG, Basel

Herman A. Witkin

1979-01-01

155

Environmental input to the development of sex-related differences in spatial and mathematical ability  

Microsoft Academic Search

This article summarizes the empirical support for two conclusions: (1) environmental input is essential for the development of both spatial and mathematical skill; (2) environmental input of the essential sort is more common in the lives of boys than girls. A causal link between these two facts and the existence of sex-related differences in spatial and mathematical ability is less

Nora Newcombe

1995-01-01

156

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

ERIC Educational Resources Information Center

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

Schaffer, Michael J.

1981-01-01

157

Survey of HBIGDA Membership on Treatment of Disorders of Sex Development (DSD)  

Microsoft Academic Search

HBIGDA members' treatment of persons with disorders of sex development (DSD), was assessed by questionnaire. The response rate was 71%. Ninety-three members (40% of respondents) provided a variety of clinical services to all ages and to parents of children with a DSD condition. The majority of these 93 had seen just a few such individuals but ten HBIGDA members had

Tom Mazur; Peggy T. Cohen-Kettenis; Walter J. Meyer III; Heino F. L. Meyer-Bahlburg; Kenneth J. Zucker

2007-01-01

158

New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)  

Microsoft Academic Search

Although the genetic basis of human sexual determination and differentiation has advanced considerably in recent years, the fact remains that in most subjects with disorders of sex development (DSD) the underlying genetic cause is unknown. Where pathogenic mutations have been identified, the phenotype can be highly variable, even within families, suggesting that other genetic variants are influencing the expression of

A. Bashamboo; S. Ledig; P. Wieacker; J. C. Achermann; K. McElreavey

2010-01-01

159

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

160

Dipyridamole attenuates the development of iminodipropionitrile-induced dyskinetic abnormalities in rats.  

PubMed

The present investigation was undertaken to study the effect of dipyridamole on experimental dyskinesia in rats. The movement disorders were produced by intraperitoneal administration of iminodipropionitrile (IDPN) in the dose of 100 mg/kg per day for 12 days. Dipyridamole was administered orally, daily 30 min before IDPN in the doses of 0.5 g/kg, 1 g/kg, and 1.5 g/kg bodyweight in three different groups of rats. Twenty-four hours after the last dose of IDPN, animals were observed for neurobehavioral changes including vertical and horizontal head weaving, circling, backwalking, grip strength, and righting reflex. Immediately after behavioral studies brain specimens were collected for analysis of vitamin E, conjugated dienes, and lipid hydroperoxides as indices of oxygen-derived free radical (OFR) production. Our results showed that concurrent use of dipyridamole significantly protected rats against IDPN-induced neurobehavioral changes in a dose-dependent manner. Treatment of rats with dipyridamole inhibited IDPN-induced decrease of vitamin E and increase in conjugated dienes and lipid hydroperoxides in brain. These findings suggest the involvement of OFR in dipyridamole induced protection against the development of IDPN dyskinesia. Further studies are warranted to determine the role of dipyridamole as a prophylactic agent against the drug induced dyskinetic abnormalities. PMID:7552372

Tariq, M; al-Deeb, S; al-Moutaery, K; Bruyn, G W; Evans, D A; Arshaduddin, M

1995-01-01

161

Reduction of Mitoferrin Results in Abnormal Development and Extended Lifespan in Caenorhabditis elegans  

PubMed Central

Iron is essential for organisms. It is mainly utilized in mitochondria for biosynthesis of iron-sulfur clusters, hemes and other cofactors. Mitoferrin 1 and mitoferrin 2, two homologues proteins belonging to the mitochondrial solute carrier family, are required for iron delivery into mitochondria. Mitoferrin 1 is highly expressed in developing erythrocytes which consume a large amount of iron during hemoglobinization. Mitoferrin 2 is ubiquitously expressed, whose functions are less known. Zebrafish with mitoferrin 1 mutation show profound hypochromic anaemia and erythroid maturation arrests, and yeast with defects in MRS3/4, the counterparts of mitoferrin 1/2, has low mitochondrial iron levels and grows poorly by iron depletion. Mitoferrin 1 expression is up-regulated in yeast and mouse models of Fiedreich's ataxia disease and in human cell culture models of Parkinson disease, suggesting its involvement in the pathogenesis of diseases with mitochondrial iron accumulation. In this study we found that reduced mitoferrin levels in C. elegans by RNAi treatment causes pleiotropic phenotypes such as small body size, reduced fecundity, slow movement and increased sensitivity to paraquat. Despite these abnormities, lifespan was increased by 50% to 80% in N2 wild type strain, and in further studies using the RNAi sensitive strain eri-1, more than doubled lifespan was observed. The pathways or mechanisms responsible for the lifespan extension and other phenotypes of mitoferrin RNAi worms are worth further study, which may contribute to our understanding of aging mechanisms and the pathogenesis of iron disorder related diseases.

Ren, Yaguang; Yang, Su; Tan, Guoqiang; Ye, Wei; Liu, Danhui; Qian, Xu; Ding, Zhongying; Zhong, Yuhong; Zhang, Jingrui; Jiang, Dandan; Zhao, Yuhong; Lu, Jianxin

2012-01-01

162

The impact of steroid withdrawal on the development of lipid abnormalities and obesity in heart transplant recipients.  

PubMed

Hyperlipidemia and obesity are common problems after heart transplantation, which may increase the risk of chronic graft atherosclerosis. The intent of this study was to (1) determine the impact of a history of hyperlipidemia on the occurrence of lipid abnormalities after transplantation, (2) compare lipid profiles of those patients being treated with triple-drug immunosuppression versus those patients weaned from prednisone therapy, and (3) identify any factors that would predict which patients are at highest risk for the development of hyperlipidemia after transplantation. Of 89 patients who lived for more than 12 months, 35 patients had a history of hyperlipidemia before heart transplantation (cholesterol level of more than 240 mg/dl; low-density lipoprotein cholesterol level of more than 160 mg/dl). The most dramatic rise in cholesterol level was observed in patients with no history of hyperlipidemia who were treated with triple-drug immunosuppression, in whom a 64% increase occurred versus a 24% increase in patients receiving steroid-free immunosuppression (p < 0.001). In patients with a history of hyperlipidemia, cholesterol level increased by 20% with triple-drug immunosuppression versus 14% with steroid-free immunosuppression (p = 0.613); however, 83% of the patients in the triple-drug group and 92% in the steroid-free group had elevated cholesterol levels. Multiple regression analysis revealed that significant independent and additive (p < 0.00001) contributions with respect to percent change in cholesterol level were evident for (1) a negative history of hyperlipidemia (p = 0.005), (2) triple-drug immunosuppression (p = 0.0021), and (3) female sex (p = 0.0113). A negative history of hyperlipidemia was predictive of the percent change in low-density lipoprotein cholesterol level (p = 0.0049), and triple-drug immunosuppression administration predicted the percent change in high-density lipoprotein cholesterol (p = 0.0119). Patients with a positive history of hyperlipidemia had higher lipid values at 12 and 24 months after transplantation; however, patients with no previous history of hyperlipidemia experienced the greatest percent change in both cholesterol and low-density lipoprotein levels. Patients receiving prednisone therapy gained more weight (9.0 +/- 7.0 kg) as compared with those patients tapered from prednisone therapy (5.9 +/- 8.6 kg); however, neither the increase in actual weight (p = 0.120) nor the increase in percent ideal body weight (14% +/- 11% versus 9% +/- 13%, respectively) were significant (p = 0.133). This study identified that postoperative weight gain is best predicted by premorbid habitus, rather than the type of immunosuppression used.(ABSTRACT TRUNCATED AT 400 WORDS) PMID:8369320

Lake, K D; Reutzel, T J; Pritzker, M R; Jorgensen, C R; Emery, R W

1993-01-01

163

Sexual differentiation in the developing mouse brain: contributions of sex chromosome genes  

PubMed Central

Neural sexual differentiation begins during embryogenesis and continues after birth for a variable amount of time depending on the species and brain region. Because gonadal hormones were the first factors identified in neural sexual differentiation, their role in this process has eclipsed investigation of other factors. Here, we use a mouse with a spontaneous translocation that produces four different unique sets of sex chromosomes. Each genotype has one normal X-chromosome, and a unique second sex chromosome, creating the following genotypes: XY*x, XX, XY*, XXY*. This Y* mouse line is used by several laboratories to study two human aneuploid conditions: Turner and Klinefelter syndromes. Since sex chromosome number affects behavior and brain morphology, we surveyed brain gene expression at embryonic days 11.5 and 18.5 to isolate X-chromosome dose effects in the developing brain as possible mechanistic changes underlying the phenotypes. We compared gene expression differences between gonadal males and females as well as individuals with one versus two X-chromosomes. We present data showing, in addition to genes reported to escape X-inactivation, a number of autosomal genes are differentially expressed between the sexes and in mice with different numbers of X-chromosomes. Based on our results, we can now identify the genes present in the region around the chromosomal break point that produces the Y* model. Our results also indicate an interaction between gonadal development and sex chromosome number that could further elucidate the role of sex chromosome genes and hormones in the sexual differentiation of behavior.

Wolstenholme, Jennifer T.; Rissman, Emilie F.; Bekiranov, Stefan

2012-01-01

164

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

PubMed

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

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

2002-03-01

165

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

PubMed

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

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

2014-06-01

166

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

167

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

PubMed Central

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

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

2014-01-01

168

Early diabetes and abnormal postnatal pancreatic islet development in mice lacking Glut-2.  

PubMed

Glut-2 is a low-affinity transporter present in the plasma membrane of pancreatic beta-cells, hepatocytes and intestine and kidney absorptive epithelial cells of mice. In beta-cells, Glut-2 has been proposed to be active in the control of glucose-stimulated insulin secretion (GSIS; ref. 2), and its expression is strongly reduced in glucose-unresponsive islets from different animal models of diabetes. However, recent investigations have yielded conflicting data on the possible role of Glut-2 in GSIS. Whereas some reports have supported a specific role for Glut-2 (refs 5,6), others have suggested that GSIS could proceed normally even in the presence of low or almost undetectable levels of this transporter. Here we show that homozygous, but not heterozygous, mice deficient in Glut-2 are hyperglycaemic and relatively hypo-insulinaemic and have elevated plasma levels of glucagon, free fatty acids and beta-hydroxybutyrate. In vivo, their glucose tolerance is abnormal. In vitro, beta-cells display loss of control of insulin gene expression by glucose and impaired GSIS with a loss of first phase but preserved second phase of secretion, while the secretory response to non-glucidic nutrients or to D-glyceraldehyde is normal. This is accompanied by alterations in the postnatal development of pancreatic islets, evidenced by an inversion of the alpha- to beta-cell ratio. Glut-2 is thus required to maintain normal glucose homeostasis and normal function and development of the endocrine pancreas. Its absence leads to symptoms characteristic of non-insulin-dependent diabetes mellitus. PMID:9354799

Guillam, M T; Hümmler, E; Schaerer, E; Yeh, J I; Birnbaum, M J; Beermann, F; Schmidt, A; Dériaz, N; Thorens, B; Wu, J Y

1997-11-01

169

Clinical evaluation study of the German network of disorders of sex development (DSD)\\/intersexuality: study design, description of the study population, and data quality  

Microsoft Academic Search

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

Anke Lux; Siegfried Kropf; Eva Kleinemeier; Martina Juergensen; Ute Thyen

2009-01-01

170

"Differently normal" and "normally different": negotiations of female embodiment in women's accounts of 'atypical' sex development.  

PubMed

During recent decades numerous feminist scholars have scrutinized the two-sex model and questioned its status in Western societies and medicine. Along the same line, increased attention has been paid to individuals' experiences of atypical sex development, also known as intersex or 'disorders of sex development' (DSD). Yet research on individuals' experiences of finding out about their atypical sex development in adolescence has been scarce. Against this backdrop, the present article analyses 23 in-depth interviews with women who in their teens found out about their atypical sex development. The interviews were conducted during 2009-2012 and the interviewees were all Swedish. Drawing on feminist research on female embodiment and social scientific studies on diagnosis, I examine how the women make sense of their bodies and situations. First, I aim to explore how the women construe normality as they negotiate female embodiment. Second, I aim to investigate how the divergent manners in which these negotiations are expressed can be further understood via the women's different access to a diagnosis. Through a thematic and interpretative analysis, I outline two negotiation strategies: the "differently normal" and the "normally different" strategy. In the former, the women present themselves as just slightly different from 'normal' women. In the latter, they stress that everyone is different in some manner and thereby claim normalcy. The analysis shows that access to diagnosis corresponds to the ways in which the women present themselves as "differently normal" and "normally different", thus shedding light on the complex role of diagnosis in their negotiations of female embodiment. It also reveals that the women make use of what they do have and how alignments with and work on norms interplay as normality is construed. PMID:24331903

Guntram, Lisa

2013-12-01

171

Chromosomal Abnormalities and Schizophrenia  

PubMed Central

Schizophrenia is a common and serious psychiatric illness with strong evidence for genetic causation, but no specific loci yet identified. Chromosomal abnormalities associated with schizophrenia may help to understand the genetic complexity of the illness. This paper reviews the evidence for associations between chromosomal abnormalities and schizophrenia and related disorders. The results indicate that 22q11.2 microdeletions detected by fluorescence in-situ hybridization (FISH) are significantly associated with schizophrenia. Sex chromosome abnormalities seem to be increased in schizophrenia but insufficient data are available to indicate whether schizophrenia or related disorders are increased in patients with sex chromosome aneuploidies. Other reports of chromosomal abnormalities associated with schizophrenia have the potential to be important adjuncts to linkage studies in gene localization. Advances in molecular cytogenetic techniques (i.e., FISH) have produced significant increases in rates of identified abnormalities in schizophrenia, particularly in patients with very early age at onset, learning difficulties or mental retardation, or dysmorphic features. The results emphasize the importance of considering behavioral phenotypes, including adult onset psychiatric illnesses, in genetic syndromes and the need for clinicians to actively consider identifying chromosomal abnormalities and genetic syndromes in selected psychiatric patients.

BASSETT, ANNE S.; CHOW, EVA W.C.; WEKSBERG, ROSANNA

2011-01-01

172

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

173

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

174

Constitutively Activated NLRP3 Inflammasome Causes Inflammation and Abnormal Skeletal Development in Mice  

PubMed Central

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.

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

175

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

176

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.

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

2013-01-01

177

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

PubMed

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

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

2013-01-01

178

Abnormal upregulation of myelin genes underlies the critical period of myelination in undernourished developing rat brain.  

PubMed

Since myelin gene expression is suppressed during active myelination of the undernourished brain, this study was designed to determine the effects of undernourishment on the upregulation of myelin genes and the relationship between upregulation and the 'critical period' associated with permanent hypomyelination of the brain. Long-Evans rat dams were given either ad libitum or restricted access to rat chow to produce two populations of developing offsprings. The food deprivation schedule was designed to produce a degree of growth retardation comparable to our earlier studies of hypomyelination in undernourished brain. The expression of myelin genes, at various developmental ages, was determined in the forebrains from undernourished and normal, well fed controls by Northern analysis. In well nourished forebrain, proteolipid protein (PLP), myelin associated glycoprotein (MAG), and basic protein (BP) messages began to increase polynomially after day 8 post partum, leading to a rapid accumulation of message during the following several days. In undernourished forebrain, PLP, MAG, and BP messages did not show any increase until day 10, and then increased at a diminished rate as compared to well nourished forebrain. Additionally, the two PLP messages (1.6 kb and 3.2 kb) showed different vulnerabilities to protein-calorie undernourishment, which explains the abnormal ratio of the 3.2 and 1.6 kb forms we previously found in undernourished brain. This study shows a pattern of temporal specificity when the myelin PLP, MAG, and BP genes are synchronously upregulated in the normal forebrain to a high rate of transcription between day 7 to 9, which is several days before the onset of rapid myelination of the brain.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7683238

Royland, J E; Konat, G; Wiggins, R C

1993-04-01

179

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

180

Sex-dependent gene expression in early brain development of chicken embryos  

PubMed Central

Background Differentiation of the brain during development leads to sexually dimorphic adult reproductive behavior and other neural sex dimorphisms. Genetic mechanisms independent of steroid hormones produced by the gonads have recently been suggested to partly explain these dimorphisms. Results Using cDNA microarrays and real-time PCR we found gene expression differences between the male and female embryonic brain (or whole head) that may be independent of morphological differentiation of the gonads. Genes located on the sex chromosomes (ZZ in males and ZW in females) were common among the differentially expressed genes, several of which (WPKCI-8, HINT, MHM non-coding RNA) have previously been implicated in avian sex determination. A majority of the identified genes were more highly expressed in males. Three of these genes (CDK7, CCNH and BTF2-P44) encode subunits of the transcription factor IIH complex, indicating a role for this complex in neuronal differentiation. Conclusion In conclusion, this study provides novel insights into sexually dimorphic gene expression in the embryonic chicken brain and its possible involvement in sex differentiation of the nervous system in birds.

Scholz, Birger; Kultima, Kim; Mattsson, Anna; Axelsson, Jeanette; Brunstrom, Bjorn; Halldin, Krister; Stigson, Michael; Dencker, Lennart

2006-01-01

181

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

182

Late Onset Canonical Babbling: A Possible Early Marker of Abnormal Development.  

ERIC Educational Resources Information Center

Onset of canonical babbling was investigated for 1,536 high-risk infants at about 10-months corrected age. Although delays were infrequent, they were often associated with genetic, neurological, anatomical, and/or physiological abnormalities. Over half the cases of late canonical babbling, at the time of discovery, were not associated with prior…

Oller, D. Kimbrough; Eilers, Rebecca E.; Neal, A. Rebecca; Cobo-Lewis, Alan B.

1998-01-01

183

Embryo Sac Development in the Maize indeterminate gametophyte1 Mutant: Abnormal Nuclear Behavior and Defective Microtubule Organization.  

PubMed Central

The indeterminate gametophyte1 mutation in maize has been known to disrupt development of the female gametophyte. Mutant embryo sacs have abnormal numbers and behavior of micropylar and central cell nuclei, which result in polyembryony and elevated ploidy levels in the endosperm of developing kernels. In this study, we confirm abnormal nuclear behavior and present novel findings. In contrast to the normal form, there is no obvious polarity in two-nucleate embryo sacs or in the micropylar cells of eight-nucleate embryo sacs. We show that the second and third mitoses are not fully synchronized and that additional mitoses can occur in all of the nuclei of the mutant embryo sac or in just the micropylar or central regions. After cellularization, individual micropylar cells can undergo mitosis. Abnormal microtubular behavior results in irregular positioning of the nuclei, asynchronous microtubular patterns in different pairs of nuclei, and abnormal phragmoplasts after the third mitotic division. These results indicate that in addition to acting primarily in controlling nuclear divisions, the indeterminate gametophyte1 gene acts secondarily in regulating microtubule behavior. This cytoskeletal activity most likely controls the polarization and nuclear migration underlying the formation and fate of the cells of the normal embryo sac.

Huang, B. Q.; Sheridan, W. F.

1996-01-01

184

Walking abnormalities  

MedlinePLUS

Gait abnormalities ... of how a person walks is called the gait. Different types of walking problems occur without a ... Some walking abnormalities have been given names: Propulsive gait -- a stooped, stiff posture with the head and ...

185

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

186

Development and validation of the attitudes toward same-sex marriage scale.  

PubMed

This research details the development of a new instrument designed to measure attitudes toward same-sex marriage. Participants were 615 heterosexual women and men, drawn from both student and nonstudent adult populations. Four studies were conducted for the purpose of developing the scale and to establish its psychometric properties. The resulting Attitudes Toward Same-Sex Marriage Scale (ATSM) consists of 17 items, has a one-dimensional factor structure, and exhibits a high degree of reliability. Additional analyses established the construct validity of the ATSM where ATSM scores were highly correlated with scores on the Attitudes Toward Lesbians and Gay Men Scale (Herek, 1988). ATSM scores followed predicted correlational patterns with select demographics, including educational attainment, religiosity, and political conservatism. The usefulness of this new measure in survey research is discussed. PMID:18032289

Pearl, Marcia L; Galupo, M Paz

2007-01-01

187

Consequences of the Chicago consensus on disorders of sex development (DSD): current practices in Europe  

Microsoft Academic Search

ObjectiveTo assess clinical management of disorders of sex development (DSD) subsequent to recommendations issued in the 2006 Consensus Statement.DesignOnline questionnaire and audit of DSD literature.SettingInvitation to complete a 28-item online questionnaire and a 12-item follow-up questionnaire, both assessing current clinic statistics and clinical management of DSD.ParticipantsPaediatric endocrinologists from 60 medical centres representing 23 European countries.Main outcome measuresClinic activity, multidisciplinary team

V. Pasterski; P. Prentice; I. A. Hughes

2010-01-01

188

Disorders of sex development (DSDs), their presentation and management in different cultures  

Microsoft Academic Search

The way disorders of sex development (DSD) are viewed and managed in different cultures varies widely. They are complex conditions\\u000a and even well-educated lay people find them difficult to understand, but when families are very poor and lacking in basic\\u000a education, and the health system is starved of resources, traditional beliefs, folk remedies and prejudice combine to make\\u000a the lives

Garry L. Warne; Jamal Raza

2008-01-01

189

The implications of myelodysplastic syndrome - associated chromosomal abnormalities in the development of graft-versus-host disease.  

PubMed

There is a growing body of evidences that acquired chromosomal abnormalities in bone marrow (BM) cells are associated with clinical manifestations of myelodysplastic syndrome (MDS). However, to our knowledge, there are no reports that describe the association between chromosomal abnormalities in MDS and graft-versus-host disease (GVHD) after allogeneic stem cell transplantation (allo-SCT). Here, we describe two MDS cases with trisomy 8 and der(1;7)(q10;p10), who developed severe GVHD after allo-SCT. We analyzed cytokine production and cell survival of monocytes from these patients with MDS before allo-SCT, in comparison with healthy controls or an MDS patient with a different chromosomal abnormality, who has not developed GVHD. The monocytes from MDS patients with trisomy 8 and der(1;7)(q10;p10) produced a larger amount of pro-inflammatory cytokine, tumor necrosis factor-?, and a smaller amount of anti-inflammatory cytokine, interleukin-10, on stimulation with Toll-like receptor (TLR) ligands. In addition, the monocytes from MDS cases with GVHD showed a decrease in apoptotic cell death upon stimulation with TLR ligands. We also detected host-derived pro-inflammatory antigen-presenting cells (APCs) in skin GVHD lesions after allo-SCT. These data suggest that trisomy 8 and der(1;7)(q10;p10) may be associated with the development of severe GVHD, by prolonging survival of pro-inflammatory host-derived APCs in GVHD lesions. PMID:23470132

Arai, Yasuyuki; Yamashita, Kouhei; Mizugishi, Kiyomi; Takaori-Kondo, Akifumi; Chiba, Tsutomu; Watanabe, Tomohiro

2013-06-01

190

Patterns of congenital lower urinary tract obstructive uropathy: relation to abnormal prostate and bladder development and the prune belly syndrome.  

PubMed

The pathogenesis of lower urinary tract obstruction is disputed, particularly its relation to both abnormal prostatic development and the prune belly syndrome (PBS). In an attempt to clarify this issue we examined 11 males (17-38 weeks gestation) with PBS who were autopsied at our institution. The lower urinary tract was embedded intact and prepared as serial histologic sections. Of the 11 cases, 8 demonstrated mechanical obstruction of the lower urinary tract. In five of these eight cases, a "flap-valve" structure was formed by an abnormal angulation between the prostatic and penile portions of the urethra. These had dilated, thin-walled bladders and prostates and moderate to severe renal dysplasia. One of the eight cases had a valve-like obstruction at the level of the mid-prostatic urethra associated with a complex cloacal malformation and a thin-walled bladder, another case had an epithelial plug at the penile meatus, and the last of the eight cases had a posterior urethral valve. The three remaining cases showed no mechanical obstruction. However, each had megacystis with marked thickening, interstitial fibrosis, and disarray of smooth muscle bundles in the bladder wall. In 10 cases, the prostate had no or only sparse, flattened glands. These results suggest that the abnormal development of the prostate in PBS may be explained as a pressure-induced dysplasia rather than a primary maldevelopment. The findings further suggest that abnormal prostatic development and the prune belly syndrome may arise from either anatomic obstruction of various types or functional obstruction from megacystis. PMID:11779049

Volmar, K E; Fritsch, M K; Perlman, E J; Hutchins, G M

2001-01-01

191

Abnormal gonad development in Kit W-2Bao mice caused by a Kit gene missense mutation  

Microsoft Academic Search

Kit\\u000a \\u000a W-2Bao\\u000a mice are single-gene autosomal dominant mutation mice with a B6 background that were bred in our laboratory. Heterozygotes\\u000a had morphological characteristics including albinism of the abdomen, extremities, and tail, whereas the homozygotes had albinism\\u000a of the body, black eyes, and infertility. The homozygous mutants showed small, structurally abnormal gonads, and lacked germ\\u000a cells. Heterozygous male mice lacked germ

BaoJin Wu; LiJing Yin; ZhengLan Lu; YuShu Yin; WeiWei Yang; Rong Yang; XiaoDong Kang; GuiJie Liu; HongPing Yin; LiPing Yu; MeiEr Gu; PeiLin Wu

2010-01-01

192

The development of sex reassignment surgery in Thailand: a social perspective.  

PubMed

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; Selvaggi, Gennaro; Jindarak, Sirachai; Angspatt, Apichai; Pungrasmi, Pornthep; Suwajo, Poonpismai; Tiewtranon, Preecha

2014-01-01

193

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

194

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

195

Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development.  

PubMed

Male development in mammals is normally initiated by the Y-linked gene Sry, which activates expression of Sox9, leading to a cascade of gene activity required for testis formation. Although defects in this genetic cascade lead to human disorders of sex development (DSD), only a dozen DSD genes have been identified, and causes of 46,XX DSD (XX maleness) other than SRY translocation are almost completely unknown. Here, we show that transgenic expression of Sox10, a close relative of Sox9, in gonads of XX mice resulted in development of testes and male physiology. The degree of sex reversal correlated with levels of Sox10 expression in different transgenic lines. Sox10 was expressed at low levels in primordial gonads of both sexes during normal mouse development, becoming male-specific during testis differentiation. SOX10 protein was able to activate transcriptional targets of SOX9, explaining at a mechanistic level its ability to direct male development. Because over-expression of SOX10 alone is able to mimic the XX DSD phenotypes associated with duplication of human chromosome 22q13, and given that human SOX10 maps to 22q13.1, our results functionally implicate SOX10 in the etiology of these DSDs. PMID:19933217

Polanco, Juan Carlos; Wilhelm, Dagmar; Davidson, Tara-Lynne; Knight, Deon; Koopman, Peter

2010-02-01

196

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

197

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.

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

2013-01-01

198

Arrested human embryos are more likely to have abnormal chromosomes than developing embryos from women of advanced maternal age  

PubMed Central

Background Aneuploidy is one of the major factors that result in low efficiency in human infertility treatment by in vitro fertilization (IVF). The development of DNA microarray technology allows for aneuploidy screening by analyzing all 23 pairs of chromosomes in human embryos. All chromosome screening for aneuploidy is more accurate than partial chromosome screening, as errors can occur in any chromosome. Currently, chromosome screening for aneuploidy is performed in developing embryos, mainly blastocysts. It has not been performed in arrested embryos and/or compared between developing embryos and arrested embryos from the same IVF cycle. Methods The present study was designed to examine all chromosomes in blastocysts and arrested embryos from the same cycle in patients of advanced maternal ages. Embryos were produced by routine IVF procedures. A total of 90 embryos (45 blastocysts and 45 arrested embryos) from 17 patients were biopsied and analyzed by the Agilent DNA array platform. Results It was found that 50% of the embryos developed to blastocyst stage; however, only 15.6% of the embryos (both blastocyst and arrested) were euploid, and most (84.4%) of the embryos had chromosomal abnormalities. Further analysis indicated that 28.9% of blastocysts were euploid and 71.1% were aneuploid. By contrast, only one (2.2%) arrested embryo was euploid while others (97.8%) were aneuploid. The prevalence of multiple chromosomal abnormalities in the aneuploid embryos was also higher in the arrested embryos than in the blastocysts. Conclusions These results indicate that high proportions of human embryos from patients of advanced maternal age are aneuploid, and the arrested embryos are more likely to have abnormal chromosomes than developing embryos.

2014-01-01

199

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

200

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

PubMed

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

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

2012-01-01

201

Boys and girls on the playground: sex differences in social development are not stable across early childhood.  

PubMed

Sex differences in human social behaviors and abilities have long been a question of public and scientific interest. Females are usually assumed to be more socially oriented and skillful than males. However, despite an extensive literature, the very existence of sex differences remains a matter of discussion while some studies found no sex differences whereas others reported differences that were either congruent or not with gender stereotypes. Moreover, the magnitude, consistency and stability across time of the differences remain an open question, especially during childhood. As play provides an excellent window into children's social development, we investigated whether and how sex differences change in social play across early childhood. Following a cross-sectional design, 164 children aged from 2 to 6 years old, divided into four age groups, were observed during outdoor free play at nursery school. We showed that sex differences are not stable over time evidencing a developmental gap between girls and boys. Social and structured forms of play emerge systematically earlier in girls than in boys leading to subsequent sex differences in favor of girls at some ages, successively in associative play at 3-4 years, cooperative play at 4-5 years, and social interactions with peers at 5-6 years. Preschool boys also display more solitary play than preschool girls, especially when young. Nevertheless, while boys catch up and girls move on towards more complex play, sex differences in social play patterns are reversed in favor of boys at the following ages, such as in associative play at 4-5 years and cooperative play at 5-6 years. This developmental perspective contributes to resolve apparent discrepancies between single-snapshot studies. A better understanding of the dynamics of sex differences in typical social development should also provide insights into atypical social developments which exhibit sex differences in prevalence, such as autism. PMID:21297987

Barbu, Stéphanie; Cabanes, Guénaël; Le Maner-Idrissi, Gaïd

2011-01-01

202

Boys and Girls on the Playground: Sex Differences in Social Development Are Not Stable across Early Childhood  

PubMed Central

Sex differences in human social behaviors and abilities have long been a question of public and scientific interest. Females are usually assumed to be more socially oriented and skilful than males. However, despite an extensive literature, the very existence of sex differences remains a matter of discussion while some studies found no sex differences whereas others reported differences that were either congruent or not with gender stereotypes. Moreover, the magnitude, consistency and stability across time of the differences remain an open question, especially during childhood. As play provides an excellent window into children's social development, we investigated whether and how sex differences change in social play across early childhood. Following a cross-sectional design, 164 children aged from 2 to 6 years old, divided into four age groups, were observed during outdoor free play at nursery school. We showed that sex differences are not stable over time evidencing a developmental gap between girls and boys. Social and structured forms of play emerge systematically earlier in girls than in boys leading to subsequent sex differences in favor of girls at some ages, successively in associative play at 3–4 years, cooperative play at 4–5 years, and social interactions with peers at 5–6 years. Preschool boys also display more solitary play than preschool girls, especially when young. Nevertheless, while boys catch up and girls move on towards more complex play, sex differences in social play patterns are reversed in favor of boys at the following ages, such as in associative play at 4–5 years and cooperative play at 5–6 years. This developmental perspective contributes to resolve apparent discrepancies between single-snapshot studies. A better understanding of the dynamics of sex differences in typical social development should also provide insights into atypical social developments which exhibit sex differences in prevalence, such as autism.

Barbu, Stephanie; Cabanes, Guenael; Le Maner-Idrissi, Gaid

2011-01-01

203

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...

204

Differential expression of the MHM region and of sex-determining-related genes during gonadal development in chicken embryos.  

PubMed

The chicken (Gallus gallus) embryo has been used as a classic model system for developmental studies because of its easy accessibility for surgical manipulation during embryonic development. Sex determination in birds is chromosomally based (ZZ for males and ZW for females); however, the basic mechanism of sex determination is still unknown. Here, the dynamics of expression of candidate genes implicated in vertebrate sex determination and differentiation were studied during embryonic chicken gonadal development. Gene expression profiles were obtained before, during, and after gonadal sex differentiation in females and males for DMRT1, SOX3, SOX9, DAX1, SCII, HINTZ, HINTW, and the male hypermethylated (MHM) region. Transcripts for the HINTZ, DMRT1, DAX1, SCII, and SOX9 genes were observed in both sexes, but expression was higher in male gonads and may be correlated with testicular differentiation. The expression patterns of HINTW, SOX3, and MHM suggest that they may act in ovary development and may be involved in meiosis entry. MHM was upregulated and DMRT1 was downregulated in females at the same developmental stage. This may indicate a regulation of DMRT1 by MHM ncRNA. Similar dynamics were observed between HINTW and HINTZ. This study reports on the MHM expression profile during gonadal development and its correlation with the expression of genes involved in vertebrate sex determination. PMID:24615048

Caetano, L C; Gennaro, F G O; Coelho, K; Araújo, F M; Vila, R A; Araújo, A; de Melo Bernardo, A; Marcondes, C R; Chuva de Sousa Lopes, S M; Ramos, E S

2014-01-01

205

The development of sex differences in young children's activities at home: The effect of the social context  

Microsoft Academic Search

Randomly scheduled spot observations of 83 zero to six-year-old American middle-class children were used to investigate factors affecting the development of sex differences in young children's activities in and near their home. Sex and age differences in children's typical play and nonplay activities and in the people with whom they did activities were examined. The results showed that there were

Marianne N. Bloch

1987-01-01

206

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.

2011-01-01

207

Health-related quality of life in children with disorders of sex development (DSD).  

PubMed

Disorders of sex development (DSD) are rare genetic conditions resulting in atypical development of the sex organs. While some evidence is available on psychosexual outcomes, much less is known about the quality of life in this population, especially in children. Health-related quality of life (HRQOL) is a widely accepted endpoint for assessment and evaluation of interventions and medical care. Within the German DSD Network study, 86 children aged 8-12 years with several subtypes of DSD were recruited from Germany, Austria and Switzerland. Demographic, medical and psychosocial variables were collected through interviews of the attending physicians, the children and the parents. HRQOL was the primary outcome. It was assessed by the KINDL-R Questionnaire [2001]. Psychosexual determinants included gender identity/gender dysphoria, gender role behaviour, the child's knowledge about the condition and number/timing of genital surgery. A significant reduction of HRQOL was reported in children's self-report (p?

Jürgensen, Martina; Lux, Anke; Wien, Sebastian Benedikt; Kleinemeier, Eva; Hiort, Olaf; Thyen, Ute

2014-07-01

208

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

209

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

ERIC Educational Resources Information Center

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

Munroe, Ruth H.; Munroe, Robert L.

210

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

PubMed Central

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

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

2010-01-01

211

Ponatinib suppresses the development of myeloid and lymphoid malignancies associated with FGFR1 abnormalities.  

PubMed

Myeloid and lymphoid malignancies associated with fibroblast growth factor receptor-1 (FGFR1) abnormalities are characterized by constitutively activated FGFR1 kinase and rapid transformation to acute myeloid leukemia and lymphoblastic lymphoma. Molecular targeted therapies have not been widely used for stem cell leukemia/lymphoma (SCLL). Ponatinib (AP24534), which potently inhibits native and mutant BCR-ABL, also targets the FGFR family. Using murine BaF3 cells, stably transformed with six different FGFR1 fusion genes, as well as human KG1 cells expressing activated chimeric FGFR1 and five newly established murine SCLL cell lines, we show that ponatinib (<50 nM) can effectively inhibit phosphoactivation of the fusion kinases and their downstream effectors, such as PLC?, Stat5 and Src. Ponatinib also significantly extended survival of mice transplanted with different SCLL cell lines. Ponatinib administered at 30 mg/kg daily also significantly delayed, or even prevented, tumorigenesis of KG1 cells in xenotransplanted mice. Furthermore, we demonstrate that ponatinib specifically inhibits cell growth and clonogenicity of normal human CD34+ progenitor cells transformed by chimeric FGFR1 fusion kinases. Overall, our data provide convincing evidence to suggest that pharmacologic inhibition of FGFR1 fusion kinases with ponatinib is likely to be beneficial for patients with SCLL and perhaps for other human disorders associated with dysregulated FGFR1 activity. PMID:22781593

Ren, M; Qin, H; Ren, R; Cowell, J K

2013-01-01

212

Clinical characteristics, cytogenetic and molecular findings in patients with disorders of sex development.  

PubMed

The clinical characteristics of patients with disorders of sex development (DSD), and the diagnostic values of classic cytogenetic and molecular genetic assays for DSD were investigated. In the enrolled 56 cases, there were 9 cases of 46,XY DSD, 6 cases of Turner syndrome (TS), one case of Super female syndrome, 25 cases of Klinefelter syndrome, 14 cases of 46,XX DSD, and one case of autosomal balanced rearrangements with hypospadias. The diagnosis of sex was made through physical examination, cytogenetic assay, ultrasonography, gonadal biopsy and hormonal analysis. PCR was used to detect SRY, ZFX, ZFY, DYZ3 and DYZ1 loci on Y and X chromosomes respectively. The DSD patients with the same category had similar clinical characteristics. The karyotypes in peripheral blood lymphocytes of all patients were identified. PCR-based analysis showed presence or absence of the X/Y-linked loci in several cases. Of the 9 cases of 46,XY DSD, 6 were positive for SRY, 9 for ZFX/ZFY, 9 for DYZ3 and 8 for DYZ1 loci. Of the 6 cases of TS, only 1 case with the karyotype of 45,X,/46,XX/46,XY was positive for all 5 loci. Of the 25 cases of Klinefelter syndrome, all were positive for all 5 loci. In one case of rare Klinefelter syndrome variants azoospermia factor (AZF) gene detection revealed the loss of the AZFa+AZFb region. In 14 cases of 46,XX DSD, 7 cases were positive for SRY, 14 for ZFX, 7 for ZFY, 7 for ZYZ3, and 5 for DYZ1. PCR can complement and also confirm cytogenetic studies in the diagnosis of sex in cases of DSD. PMID:24496683

Tian, Li; Chen, Ming; Peng, Jian-hong; Zhang, Jian-wu; Li, Li

2014-02-01

213

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

PubMed

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

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

2014-02-01

214

An obesogenic diet started before puberty leads to abnormal mammary gland development during pregnancy in the rabbit.  

PubMed

Alterations to the metabolic environment during puberty can impact future lactation efficiency and mammary tumorigenesis. During this study, we used a model of rabbits receiving an obesogenic diet (OD), starting before puberty and extending until mid-pregnancy. Three months later, the body weight of OD animals was significantly higher than that of controls and their mammary glands displayed a precocious and abnormal development at mid-pregnancy. OD mammary ducts were filled with dense products, while alveolar structures invaded most of the fat pad. The proportion of secretory epithelium was significantly higher in OD mammary tissue, which contained an abundant accumulation of milk proteins and lipids. In conclusion, an obesogenic diet started before puberty induced an accelerated development of the rabbit mammary gland, leading to an accumulation of secretory products at mid-pregnancy. These results support the critical influence of nutrition on mammary growth and differentiation, which may be deleterious to mammary development and subsequent lactation. PMID:21246651

Hue-Beauvais, Cathy; Chavatte-Palmer, Pascale; Aujean, Etienne; Dahirel, Michèle; Laigre, Patrice; Péchoux, Christine; Bouet, Stephan; Devinoy, Eve; Charlier, Madia

2011-02-01

215

Characterization of Transcriptional Complexity during Adipose Tissue Development in Bovines of Different Ages and Sexes  

PubMed Central

Background Adipose tissue has long been recognized to play an extremely important role in development. In bovines, it not only serves a fundamental function but also plays a key role in the quality of beef and, consequently, has drawn much public attention. Age and sex are two key factors that affect the development of adipose tissue, and there has not yet been a global study detailing the effects of these two factors on expressional differences of adipose tissues. Results In this study, total RNA from the back fat of fetal bovines, adult bulls, adult heifers and adult steers were used to construct libraries for Illumina next-generation sequencing. We detected the expression levels of 12,233 genes, with over 3,000 differently expressed genes when comparing fetal and adult patterns and an average of 1000 differently expressed genes when comparing adult patterns. Multiple Gene Ontology terms and pathways were found to be significantly enriched for these differentially expressed genes. Of the 12,233 detected genes, a total of 4,753 genes (38.85%) underwent alternative splicing events, and over 50% were specifically expressed in each library. Over 4,000 novel transcript units were discovered for one library, whereas only approximately 30% were considered to have coding ability, which supplied a large amount of information for the lncRNA study. Additionally, we detected 56,564 (fetal bovine), 65,154 (adult bull), 78,061 (adult heifer) and 86,965 (adult steer) putative single nucleotide polymorphisms located in coding regions of the four pooled libraries. Conclusion Here, we present, for the first time, a complete dataset involving the spatial and temporal transcriptome of bovine adipose tissue using RNA-seq. These data will facilitate the understanding of the effects of age and sex on the development of adipose tissue and supply essential information towards further studies on the genomes of beef cattle and other related mammals.

Zhou, Yang; Sun, Jiajie; Li, Congjun; Wang, Yanhong; Li, Lan; Cai, Hanfang; Lan, Xianyong; Lei, Chuzhao; Zhao, Xin; Chen, Hong

2014-01-01

216

Gonad development in Midas cichlids and the evolution of sex change in fishes.  

PubMed

Some fishes mature and function as one sex and later transform to the other sex in response to social interactions. Previous evidence suggested that a change in developmental timing may be involved in the evolution of adult sex change in fishes. The most recent support for this idea came from reports that sex in the Midas cichlid, Amphilophus citrinellus, was determined by social conditions experienced at the juvenile stage. Differentiation as a male was reported to be dependent on large body size relative to group-mates, and thought to be mediated through aggressive interactions. Here I demonstrate that socially controlled sex determination does not occur as was originally reported. Previously, I found that sex was not associated with body size in juveniles either in nature or in captivity. Similarly, I found no association between aggressive behavior and sex in juveniles. I later demonstrated that socially controlled sex determination does not typically occur in the Midas cichlid and closely related species and supported an alternative mechanism to explain large body size in adult males. Finally, in the current study I analyze gonad histology of fish from the same population used by the original authors and lay to rest the idea of socially controlled sex determination in this species. Recent observations of socially controlled sex determination in juveniles of species that typically change sex at the adult stage are examples of phenotypic plasticity, not genetic variation. Therefore, juvenile socially controlled sex determination does not support a theory that a change in developmental timing is involved in the evolution of adult sex change in fishes. PMID:21740508

Oldfield, Ronald G

2011-01-01

217

Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome  

Microsoft Academic Search

Chromosome 22q11 deletion syndrome (22q11DS) is associated with elevated rates of schizophrenia and other psychoses in adulthood. Childhood morphologic brain abnormalities are frequently reported, but the significance of these and their relationship to the development of schizophrenia are unclear. We sought to delineate midline neuroanatomical abnormalities in nonpsychotic children with 22q11DS and their age- and sex-matched controls and compare these

Vandana Shashi; Srirangam Muddasani; Cesar C. Santos; Margaret N. Berry; Thomas R. Kwapil; Eve Lewandowski; Matcheri S Keshavan

2004-01-01

218

Expression of hindlimb abnormalities under rearing temperature effects during the larval development of the salamander Pleurodeles waltl (urodele amphibian).  

PubMed

Anomalie m.p. is a spontaneous and heritable hindlimb abnormality described earlier. Twenty years later, Pleurodeles waltl larvae from the strain bearing anomalie m.p. and reared at room temperature or at 30 degrees C, expressed abnormalities (ectrodactylia, hemimelia, ectromelia). A morphological study of all the hindlimbs and an analysis of the hindlimb skeleton of samples from the experimental animals confirmed that most of the skeletal malformations were identical to those previously reported and affected the disto-proximal and prepostaxial pattern of the hindlimb. Analysis of the effects of rearing temperature on the expression of anomalie m.p. showed that the effects varied according to the developmental period at which the heat treatment was applied; the sooner the heat treatment began, the more numerous and more various were the degrees of severity of the malformations. Moreover, heat treatment induced the expression of two additional malformations not yet described: the first one, named 'reversed knee joint', was characterized by a reversal of the knee joint, and the second one, named 'twisted foot', by a downward twisting of the foot. The epigenetic effects of rearing at 30 degrees C on hindlimb development are discussed with regard to the differentiation or patterning. PMID:9783481

Dournon, C; Bautz, A; Membre, H; Lauthier, M; Collenot, A

1998-10-01

219

New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)  

PubMed Central

Although the genetic basis of human sexual determination and differentiation has advanced considerably in recent years, the fact remains that in most subjects with disorders of sex development (DSD) the underlying genetic cause is unknown. Where pathogenic mutations have been identified, the phenotype can be highly variable, even within families, suggesting that other genetic variants are influencing the expression of the phenotype. This situation is likely to change, as more powerful and affordable tools become widely available for detailed genetic analyses. Here, we describe recent advances in comparative genomic hybridisation, sequencing by hybridisation and next generation sequencing, and we describe how these technologies will have an impact on our understanding of the genetic causes of DSD.

Bashamboo, A.; Ledig, S.; Wieacker, P.; Achermann, J.; McElreavey, K.

2010-01-01

220

Nonautonomous sex determination controls sexually dimorphic development of the Drosophila gonad.  

PubMed

Sex determination in Drosophila is commonly thought to be a cell-autonomous process, where each cell decides its own sexual fate based on its sex chromosome constitution (XX versus XY). This is in contrast to sex determination in mammals, which largely acts nonautonomously through cell-cell signaling. Here we examine how sexual dimorphism is created in the Drosophila gonad by investigating the formation of the pigment cell precursors, a male-specific cell type in the embryonic gonad. Surprisingly, we find that sex determination in the pigment cell precursors, as well as the male-specific somatic gonadal precursors, is non-cell autonomous. Male-specific expression of Wnt2 within the somatic gonad triggers pigment cell precursor formation from surrounding cells. Our results indicate that nonautonomous sex determination is important for creating sexual dimorphism in the Drosophila gonad, similar to the manner in which sex-specific gonad formation is controlled in mammals. PMID:18267095

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

2008-02-01

221

Redox Abnormalities as a Vulnerability Phenotype for Autism and Related Alterations in CNS Development.  

National Technical Information Service (NTIS)

The goals of our work are to develop means of identifying cells, and individuals, that present with a more basal oxidized redox state and to identify molecular mechanisms that functionally integrate such an oxidized state with observations that the multip...

M. D. Noble

2011-01-01

222

Redox Abnormalities as a Vulnerability Phenotype for Autism and Related Alternations in CNS Development.  

National Technical Information Service (NTIS)

The goals of our work are to develop means of identifying cells, and individuals, that present with a more basal oxidized redox state and to identify molecular mechanisms that functionally integrate such an oxidized state with observations that the multip...

M. D. Noble

2012-01-01

223

Redox Abnormalities as a Vulnerability Phenotype for Autism and Related Alterations in CNS Development.  

National Technical Information Service (NTIS)

We hypothesize that low systemic redox potential (GSH/GSSG; cysteine/cystine) reflects a vulnerability phenotype that is associated with regressive autism and is predictive of the risk of developing autism. The redox vulnerability phenotype is associated ...

S. J. James

2009-01-01

224

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

225

Timing of male sex pheromone biosynthesis in a butterfly - different dynamics under direct or diapause development.  

PubMed

The life history traits and behavior of the butterfly Pieris napi are well-known, as the species is often used as a model organism for evolutionary and ecological studies. The species has two or more generations per year in the major part of its temperate distribution, and as different selection pressures affect the different generations, both behavioral and physiological seasonal polyphenisms have been shown previously. Here, we explored the dynamics of male sex pheromone production. The two generations are shown to have significantly different scent compositions early in life; the direct developers--who have shorter time for pupal development--need the first 24 hr of adult life after eclosion to synthesize the sex pheromone citral (geranial and neral 1:1)--whereas the diapausing individuals who have spent several months in the pupal stage eclose with adult scent composition. Resource allocation and biosynthesis also were studied in greater detail by feeding butterflies (13)C labeled glucose either in the larval or adult stage, and recording incorporation into geranial, neral, and other volatiles produced. Results demonstrate that the pheromone synthesized by newly eclosed adult males is based on materials ingested in the larval stage, and that adult butterflies are able to synthesize the pheromone components geranial and neral and the related alcohols also from adult intake of glucose. In summary, our study shows that time-stress changes the timing in biosynthesis of the complete pheromone between generations, and underpins the importance of understanding resource allocation and the physiological basis of life history traits. PMID:22555771

Larsdotter-Mellström, Helena; Murtazina, Rushana; Borg-Karlson, Anna-Karin; Wiklund, Christer

2012-05-01

226

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

227

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

228

[Freckles and dysplasias of the eyebrows as indicators for genetic abnormalities of the development of the teeth and the jaws].  

PubMed

For the first time the frequency of freckles and of dysplasias of the eyebrows was examinated in 756 pupils. The percentage of the freckles was 21, and of the dysplasias of the eyebrows 28.5 in both sexes. The following examination of 287 orthodontic patients (66 males with hypodontia, 60 males with normal number of the teeth; 92 females with hypodontia, 69 females with normal number of the teeth) has demonstrated the high significance of incidence of freckles and of dysplasias of the eyebrows in patient with hypodontia. This phenomenon is important, because extraoral stigmatas can indicate to disturbances of the development of teeth and also to anomalies of the number of the teeth. PMID:2284637

Ulrich, K

1990-02-01

229

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

ERIC Educational Resources Information Center

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

Guzzetta, Francesco; Conti, Guido; Mercuri, Eugenio

2011-01-01

230

Reduction of Mitoferrin Results in Abnormal Development and Extended Lifespan in Caenorhabditis elegans  

Microsoft Academic Search

Iron is essential for organisms. It is mainly utilized in mitochondria for biosynthesis of iron-sulfur clusters, hemes and other cofactors. Mitoferrin 1 and mitoferrin 2, two homologues proteins belonging to the mitochondrial solute carrier family, are required for iron delivery into mitochondria. Mitoferrin 1 is highly expressed in developing erythrocytes which consume a large amount of iron during hemoglobinization. Mitoferrin

Yaguang Ren; Su Yang; Guoqiang Tan; Wei Ye; Danhui Liu; Xu Qian; Zhongying Ding; Yuhong Zhong; Jingrui Zhang; Dandan Jiang; Yuhong Zhao; Jianxin Lu

2012-01-01

231

Acquired, nonrandom chromosomal abnormalities associated with the development of acute promyelocytic leukemia in transgenic mice  

PubMed Central

We previously generated a transgenic mouse model for acute promyelocytic leukemia (APL) by expressing the promyelocytic leukemia (PML)–retinoic acid receptor (RAR?) cDNA in early myeloid cells. This fusion protein causes a myeloproliferative disease in 100% of animals, but only 15–20% of the animals develop acute leukemia after a long latency period (6–13 months). PML-RAR? is therefore necessary, but not sufficient, for APL development. The coexpression of a reciprocal form of the fusion, RAR?-PML, increased the likelihood of APL development (55–60%), but did not shorten latency. Together, these results suggested that additional genetic events are required for the development of APL. We therefore evaluated the splenic tumor cells from 18 transgenic mice with APL for evidence of secondary genetic events, by using spectral karyotyping analysis. Interstitial or terminal deletions of the distal region of one copy of chromosome 2 [del(2)] were found in 1/5 tumors expressing PML-RAR?, but in 11/13 tumors expressing both PML-RAR? and RAR?-PML (P < 0.05). Leukemic cells that contained a deletion on chromosome 2 often contained additional chromosomal gains (especially of 15), chromosomal losses (especially of 11 or X/Y), or were tetraploid (P ? 0.001). These changes did not commonly occur in nontransgenic littermates, nor in aged transgenic mice that did not develop APL. These results suggest that expression of RAR?-PML increases the likelihood of chromosome 2 deletions in APL cells. Deletion 2 appears to predispose APL cells to further chromosomal instability, which may lead to the acquisition of additional changes that provide an advantage to the transformed cells.

Zimonjic, Drazen B.; Pollock, Jessica L.; Westervelt, Peter; Popescu, Nicholas C.; Ley, Timothy J.

2000-01-01

232

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

233

Development of monoclonal antibodies against the abnormal prion protein isoform (PrPres) associated with chronic wasting disease (CWD)  

PubMed Central

Monoclonal antibodies (mAbs) specific for the abnormal prion protein isoform (PrPres) are indispensable for diagnosing chronic wasting disease (CWD). In this study, eight mAbs were developed by immunizing PrP knockout mice with recombinant elk PrP and an immunogenic PrP peptide. The reactivity of the mAbs to recombinant PrP and the PrP peptide was measured, and their isotypes were subsequently determined. Among them, four mAbs (B85-05, B85-08, B85-12, and B77-75) were shown by Western blotting to recognize proteinase K-treated brain homogenate derived from an elk suffering from CWD.

Jeong, Hyun-Jeong; Lee, Nak-Hyung; Lee, Joong-Bok; Park, Seung-Yong; Song, Chang-Seon; Seo, Kun-Ho; Kim, Dong-Woon; Kim, Yong-Sun

2012-01-01

234

Zebrafish embryos exposed to alcohol undergo abnormal development of motor neurons and muscle fibers  

Microsoft Academic Search

Children exposed to alcohol in utero have significantly delayed gross and fine motor skills, as well as deficiencies in reflex development. The reasons that underlie the motor deficits caused by ethanol (EtOH) exposure remain to be fully elucidated. The present study was undertaken to investigate the effects of embryonic alcohol exposure (1.5%, 2% and 2.5% EtOH) on motor neuron and

Nicole J. Sylvain; Daniel L. Brewster; Declan W. Ali

2010-01-01

235

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

PubMed Central

Background We 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 Findings We analyzed 274 magnetic resonance images that recorded brain growth from 23 to 48 wk of gestation in 113 extremely preterm infants born at 22 to 29 wk of gestation, 63 of whom underwent neurodevelopmental assessment at a median age of 2 y. Cortical surface area was related to cerebral volume by a scaling law with an exponent of 1.29 (95% confidence interval, 1.25–1.33), which was proportional to later neurodevelopmental impairment. Increasing prematurity and male gender were associated with a lower scaling exponent (p < 0.0001) independent of intrauterine or postnatal somatic growth. Conclusions Human brain growth obeys an allometric scaling relation that is disrupted by preterm birth in a dose-dependent, sexually dimorphic fashion that directly parallels the incidence of neurodevelopmental impairments in preterm infants. This result focuses attention on brain growth and cortical development during the weeks following preterm delivery as a neural substrate for neurodevelopmental impairment after premature delivery.

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

2006-01-01

236

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

SciTech Connect

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

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

1987-06-01

237

Aftercare services for international sex trafficking survivors: informing U.S. service and program development in an emerging practice area.  

PubMed

International sex trafficking into the United States appears to be a serious and growing problem, although the evidence regarding prevalence, risk, and consequences is incomplete. Nonetheless, human service providers are increasingly being asked to offer services to sex trafficking survivors. Consequently, providers need information to guide services and program development in this emerging practice area. To address this knowledge need, we systematically reviewed and synthesized 20 documents addressing the needs of and services for international survivors of sex trafficking into the United States. The main finding from the review shows the importance of a continuum of aftercare services to address survivors' changing needs as they move from initial freedom to recovery and independence. Based on our synthesis of the reviewed literature, we present a service delivery framework to guide providers' development of services for survivors. PMID:21196435

Macy, Rebecca J; Johns, Natalie

2011-04-01

238

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.

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

2013-01-01

239

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

PubMed

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

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

2013-05-01

240

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.

241

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

PubMed

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

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

2010-01-01

242

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

243

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

244

Expression and Regulation of Human Sex Hormone-Binding Globulin Transgenes in Mice during Development  

Microsoft Academic Search

Human sex hormone-binding globulin (SHBG) is produced by hepatocytes and transports sex steroids in the blood. The rat gene encoding SHBG is expressed transiently in the liver during fetal life, but it is not expressed in the liver postnatally, and the small amounts of SHBG in rat blood are derived from gonadal sources. To study the biosynthesis and function of

MARJA JANNE; KEVIN N. HOGEVEEN; HARMINDER K. DEOL; GEOFFREY L. HAMMOND

1999-01-01

245

Development of a scoring system for the Milani-Comparetti and Gidoni method of assessing neurologic abnormality in infancy.  

PubMed

This article reports the results of using a scoring system designed for the Milani-Comparetti and Gidoni method of neurologic examination of infants. The system was used in the assessment of 999 infants from the neonatal intensive care units affiliated with the Medical College of Wisconsin. The sample included all neonates who spent more than five days in the units from 1975 to 1978. Full assessments were conducted at 6 months and at 15 to 16 months corrected gestational age; additional assessments were scheduled by the physical therapists. For data analyses, the scores from the Milani-Comparetti and Gidoni method were summed; infants were subdivided into normal, transiently abnormal, and abnormal on the basis of the summed scores. Abnormal infants were further categorized on the basis of all information available. Several data analyses were performed to test the contribution of each item in separating normal, transiently abnormal, and abnormal infants and in distinguishing one type of abnormality from another. We conclude that the scoring system is useful in quantifying the degree of abnormality, in separating normality from abnormality, and in distinguishing among types of abnormality. PMID:6611662

Ellison, P H; Browning, C A; Larson, B; Denny, J

1983-09-01

246

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

247

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.

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

2013-01-01

248

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

PubMed

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

Rousseaux, C G; Schiefer, H B

1987-08-01

249

Relationship between abnormal somite development and axial skeletal defects in rats following heat exposure.  

PubMed

The effects of in vivo heat exposure on gestation day (GD) 10 rat embryos were evaluated on GD 11 to determine the relationships between morphological sequelae following in vivo and in vitro exposures and between effects detected on GD 11 and those observed in postnatal day (PND) 3 pups. Anesthetized rats were exposed to 42 degrees C in a warm air incubator until their rectal temperatures reached 41 degrees C or until a rectal temperature of 42-42.5 degrees C had been maintained for 5 minutes. Heat-exposed embryos exhibited a significant decrease in growth parameters including head length, somite number, and protein content/embryo versus controls. These changes correlated well with in vitro effects from an earlier study (G.L. Kimmel et al., '93). Among the morphological endpoints which were slightly delayed in development were the caudal neural tube, branchial bars, forelimb and hindlimb. The only effect on the embryos that could not be explained as a transient delay in development induced by heat was the induction of unsegmented somites. Additional embryos were exposed to 42 degrees C for 15-20 min in vitro and examined specifically for unsegmented somites, which were observed in 47% of embryos exposed to 42 degrees C in vivo or in vitro. This phenomenon was observed in somites 9-20, i.e., those that give rise to cervical and thoracic vertebrae and ribs. These results correlated well with the axial skeletal malformations observed in PND 3 pups exposed to the same heat treatment (C.A. Kimmel et al., '93). PMID:8248863

Cuff, J M; Kimmel, G L; Kimmel, C A; Heredia, D J; Tudor, N; Chen, J

1993-09-01

250

Abnormal neuronal migration changes the fate of developing neurons in the postnatal olfactory bulb.  

PubMed

Neuronal precursors are continuously integrated into the adult olfactory bulb (OB). The vast majority of these precursor cells originates from the subventricular zone and migrates along the rostral migratory stream (RMS) en route to the OB. This process, called postnatal neurogenesis, results from intricate pathways depending both on cell-autonomous factors and extrinsic regulation provided by the local environment. Using electroporation in postnatal mice to label neuronal precursors with green fluorescent protein (GFP) and to reduce the expression levels of doublecortin (DCX) with short-hairpin (Sh) RNA, we investigated the consequences of impairing migration on the fate of postnatal-formed neurons. First, we showed that electroporation of Dcx ShRNA plasmid efficiently knocks down the expression of DCX and disrupts cells migration along the RMS. Second, we found misplaced anomalous migrating cells that displayed defects in polarity and directionality. Third, patch-clamp recordings performed at 5-7 days post-electroporation (dpe) revealed increased density of voltage-dependent Na(+) channels and enhanced responsiveness to GABA(A) receptor agonist. At later time points (i.e., 12 and 30 dpe), most of the Dcx ShRNA(+) cells developed in the core of the OB and displayed aberrant dendritic length and branching. Additional analysis revealed the formation of GABAergic and glutamatergic synaptic inputs on the mispositioned neurons. Finally, quantifying fate determination by numbering the proportion of GFP(+)/calretinin(+) newborn neurons revealed that Dcx ShRNA(+) cells acquire mature phenotype despite their immature location. We conclude that altering the pace of migration at early stages of postnatal neurogenesis profoundly modifies the tightly orchestrated steps of neuronal maturation, and unveils the influence of microenvironment on controlling neuronal development in the postnatal forebrain. PMID:21593340

Belvindrah, Richard; Nissant, Antoine; Lledo, Pierre-Marie

2011-05-18

251

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

252

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

PubMed Central

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

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

2011-01-01

253

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.

Swierczynski, Julian; Hebanowska, Areta; Sledzinski, Tomasz

2014-01-01

254

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.

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

255

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

256

New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD)  

Microsoft Academic Search

Disorders of sex development (DSD), previously known as intersex, refer to congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Patients with specific variants of this disorder have an elevated risk for the development of so-called type II germ cell cancers, i.e., the seminomatous and nonseminatous tumors, referred to as germ cell tumors (GCTs). Specifically DSD

Remko Hersmus; Bertie H. C. G. M. de Leeuw; Katja P. Wolffenbuttel; Stenvert L. S. Drop; J. Wolter Oosterhuis; Martine Cools; Leendert H. J. Looijenga

2008-01-01

257

Mice with Tak1 Deficiency in Neural Crest Lineage Exhibit Cleft Palate Associated with Abnormal Tongue Development*  

PubMed Central

Cleft palate represents one of the most common congenital birth defects in humans. TGF? signaling, which is mediated by Smad-dependent and Smad-independent pathways, plays a crucial role in regulating craniofacial development and patterning, particularly in palate development. However, it remains largely unknown whether the Smad-independent pathway contributes to TGF? signaling function during palatogenesis. In this study, we investigated the function of TGF? activated kinase 1 (Tak1), a key regulator of Smad-independent TGF? signaling in palate development. We show that Tak1 protein is expressed in both the epithelium and mesenchyme of the developing palatal shelves. Whereas deletion of Tak1 in the palatal epithelium or mesenchyme did not give rise to a cleft palate defect, inactivation of Tak1 in the neural crest lineage using the Wnt1-Cre transgenic allele resulted in failed palate elevation and subsequently the cleft palate formation. The failure in palate elevation in Wnt1-Cre;Tak1F/F mice results from a malformed tongue and micrognathia, resembling human Pierre Robin sequence cleft of the secondary palate. We found that the abnormal tongue development is associated with Fgf10 overexpression in the neural crest-derived tongue tissue. The failed palate elevation and cleft palate were recapitulated in an Fgf10-overexpressing mouse model. The repressive effect of the Tak1-mediated noncanonical TGF? signaling on Fgf10 expression was further confirmed by inhibition of p38, a downstream kinase of Tak1, in the primary cell culture of developing tongue. Tak1 thus functions to regulate tongue development by controlling Fgf10 expression and could represent a candidate gene for mutation in human PRS clefting.

Song, Zhongchen; Liu, Chao; Iwata, Junichi; Gu, Shuping; Suzuki, Akiko; Sun, Cheng; He, Wei; Shu, Rong; Li, Lu; Chai, Yang; Chen, YiPing

2013-01-01

258

Mice with Tak1 deficiency in neural crest lineage exhibit cleft palate associated with abnormal tongue development.  

PubMed

Cleft palate represents one of the most common congenital birth defects in humans. TGF? signaling, which is mediated by Smad-dependent and Smad-independent pathways, plays a crucial role in regulating craniofacial development and patterning, particularly in palate development. However, it remains largely unknown whether the Smad-independent pathway contributes to TGF? signaling function during palatogenesis. In this study, we investigated the function of TGF? activated kinase 1 (Tak1), a key regulator of Smad-independent TGF? signaling in palate development. We show that Tak1 protein is expressed in both the epithelium and mesenchyme of the developing palatal shelves. Whereas deletion of Tak1 in the palatal epithelium or mesenchyme did not give rise to a cleft palate defect, inactivation of Tak1 in the neural crest lineage using the Wnt1-Cre transgenic allele resulted in failed palate elevation and subsequently the cleft palate formation. The failure in palate elevation in Wnt1-Cre;Tak1(F/F) mice results from a malformed tongue and micrognathia, resembling human Pierre Robin sequence cleft of the secondary palate. We found that the abnormal tongue development is associated with Fgf10 overexpression in the neural crest-derived tongue tissue. The failed palate elevation and cleft palate were recapitulated in an Fgf10-overexpressing mouse model. The repressive effect of the Tak1-mediated noncanonical TGF? signaling on Fgf10 expression was further confirmed by inhibition of p38, a downstream kinase of Tak1, in the primary cell culture of developing tongue. Tak1 thus functions to regulate tongue development by controlling Fgf10 expression and could represent a candidate gene for mutation in human PRS clefting. PMID:23460641

Song, Zhongchen; Liu, Chao; Iwata, Junichi; Gu, Shuping; Suzuki, Akiko; Sun, Cheng; He, Wei; Shu, Rong; Li, Lu; Chai, Yang; Chen, YiPing

2013-04-12

259

Impact of maternal metabolic abnormalities in pregnancy on human milk and subsequent infant metabolic development: methodology and design  

Microsoft Academic Search

BACKGROUND: Childhood obesity is on the rise and is a major risk factor for type 2 diabetes later in life. Recent evidence indicates that abnormalities that increase risk for diabetes may be initiated early in infancy. Since the offspring of women with diabetes have an increased long-term risk for obesity and type 2 diabetes, the impact of maternal metabolic abnormalities

Sylvia H Ley; Deborah L O'Connor; Ravi Retnakaran; Jill K Hamilton; Mathew Sermer; Bernard Zinman; Anthony J Hanley

2010-01-01

260

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.

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

261

Thoughts on the Nature of Identity: How Disorders of Sex Development Inform Clinical Research about Gender Identity Disorders  

Microsoft Academic Search

Disorders of sex development (DSD), like gender dysphoria, are conditions with major effects on child sexuality and identity, as well as sexual orientation. Each may in some cases lead to change of gender from that assigned neonatally. These similarities—and the conditions’ differences—provide a context for reviewing the articles in this issue about clinical approaches to children with gender dysphoria, in

William G. Reiner; D. Townsend Reiner

2012-01-01

262

Development of a Community-Based Sex Offender Treatment Programme for Adult Male Clients with a Learning Disability  

ERIC Educational Resources Information Center

This article describes the development of a community-based sex offender treatment programme for learning disabled clients (CB-SOTP-LD), the Keep Safe Programme (KSP), by the Learning Disabilities Team of County Durham and Darlington Priority Services (CDDPS) NHS Trust. The aim of this paper, by the treatment lead, is to share experiences of…

Garrett, Helen

2006-01-01

263

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

264

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

265

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.

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

2013-01-01

266

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.

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

2013-01-01

267

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

268

Abnormal haemoglobins: detection & characterization  

PubMed Central

Haemoglobin (Hb) abnormalities though quite frequent, are generally detected in populations during surveys and programmes run for prevention of Hb disorders. Several methods are now available for detection of Hb abnormalities. In this review, the following are discussed: (i) the methods used for characterization of haemoglobin disorders; (ii) the problems linked to diagnosis of thalassaemic trait; (iii) the strategy for detection of common Hb variants; and (iv) the difficulties in identification of rare variants. The differences between developing and industrialized countries for the strategies employed in the diagnosis of abnormal haemoglobins are considered. We mention the limits and pitfalls for each approach and the necessity to characterize the abnormalities using at least two different methods. The recommended strategy is to use a combination of cation-exchange high performance chromatography (CE-HPLC), capillary electrophoresis (CE) and when possible isoelectric focusing (IEF). Difficult cases may demand further investigations requiring specialized protein and/or molecular biology techniques.

Wajcman, Henri; Moradkhani, Kamran

2011-01-01

269

Development and preliminary validation of the MMPI2 scale for same-sex priest child molesters  

Microsoft Academic Search

Priests with the disorder of same-sex ephebophilia were investigated, with the purpose of constructing and validating an MMPI-2 scale. The authors performed an item-level analysis, comparing priests in evaluation for same-sex ephebophilia (N = 100) to priests in evaluation for non-sexual psychiatric disorders (N = 100) and the MMPI-2 normative sample of men (N = 1138). The comparison resulted in

Stephen Rossetti; Patricia Anthony; Peter Cimbolic; Thomas L. Wright

1996-01-01

270

Sex pheromone of hickory shuckworm Cydia caryana Development of an effective field Lure  

Microsoft Academic Search

Extracts of the sex pheromone glands of femaleCydia caryana were evaluated by electroantennography and gas chromatography-mass spectrometry. These studies suggested the following compounds were potential sex pheromone components: (Z)-8- and\\/or (E)-9-dodecenyl acetate (50 pg\\/female), dodecyl acetate (40 pg\\/female), and (E, E)-8,10-dodecadienyl acetate (25 pg\\/female). In field tests only the diene produced trap catch, and when the other components were added

L. M. McDonough; R. D. Eikenbary; M. T. Smith; H. G. Davis; C. L. Smithhisler; G. A. Hedger; R. K. Campbell; J. A. Payne; W. Reid; J. R. McVay

1990-01-01

271

Researching Domestic Violence in Same-Sex Relationships—A Feminist Epistemological Approach to Survey Development  

Microsoft Academic Search

The article draws on recently completed research by the authors, involving a detailed study of love and intimate partner violence in same-sex and heterosexual relationships (funded by the ESRC, award RES-000-23-0650). The research, hitherto the most detailed study of its kind in the United Kingdom, included a national same-sex community survey (n = 800) plus four focus groups and interviews

Marianne Hester; Catherine Donovan

2009-01-01

272

Sex-Dependent Cytoskeletal Changes of the Human Hypothalamus Develop Independently of Alzheimer's Disease  

Microsoft Academic Search

This study examines a sex-dependent variant of neurofibrillary pathology recently identified in the hypothalamus of elderly human males. Here we focus upon the relationship between the sex-dependent hypothalamic changes and Alzheimer's disease (AD)-related neurofibrillary pathology. To this end, autopsy brains of 31 males (mean age 84.1 years) and 26 age-matched females (mean age 86.7 years) were examined. Both the male

Christian Schultz; E. Ghebremedhin; Eva Braak; Heiko Braak

1999-01-01

273

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

PubMed Central

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

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

2008-01-01

274

Influence of selected (pre-)maturational parameters on in vitro development and sex distribution of bovine embryos.  

PubMed

The objectives of this research were to study the influence of a reduced oxygen concentration during in vitro maturation (IVM) and examine the effect of follicular glucose concentration on bovine in vitro development and sex distribution. In the first experiment, abattoir-derived cumulus-oocyte complexes (COC) were matured under 5% O2 or 20% O2. Secondly, COC were isolated and the glucose (G) concentration of each follicle was determined. COC were pooled in groups (G (< 1.1 mMol) or G (? 1.1 mMol)) according to the glucose content before being subjected to in vitro production (IVP). Cleavage and development rates were assessed on days 3, 7 and 8 post insemination. Blastocysts of each group were sexed by polymerase chain reaction (PCR). Expanded blastocysts were stained to assess total cell numbers and live-dead cell ratio. Cleavage and development rates stayed similar after reducing the O2 concentration during IVM. The sex ratio of embryos generated from oocytes matured under 5% O2 was shifted in favour of the female (?: 61.9%), whereas the sex ratio of embryos belonging to the IVM 20% O2 group did not differ significantly from the expected 50:50 ratio. Neither a 'higher' nor a 'lower' intrafollicular glucose concentration influenced cleavage and development rates, cell numbers or live-dead cell ratio. Eighty five per cent (G (<1.1)) and 63.6% (G (? 1.1)) of the analysed embryos were female. In summary, neither a reduced O2 concentration during IVM nor selection based on follicular glucose concentrations affected the morphological quality of embryos. Although the sex distribution was shifted in favour of female embryos in all three experimental groups, more male embryos could be seen in the G (? 1.1) group compared with the G(<1.1) group. PMID:22784675

Abele, Eva; Stinshoff, Hanna; Hanstedt, Ana; Wilkening, Sandra; Meinecke-Tillmann, S; Wrenzycki, Christine

2014-02-01

275

Developing a Multidisciplinary Team for Disorders of Sex Development: Planning, Implementation, and Operation Tools for Care Providers  

PubMed Central

In the treatment of patients with disorders of sex development (DSD), multidisciplinary teams (MDTs) represent a new standard of care. While DSDs are too complex for care to be delivered effectively without specialized team management, these conditions are often considered to be too rare for their medical management to be a hospital priority. Many specialists involved in DSD care want to create a clinic or team, but there is no available guidance that bridges the gap between a group of like-minded DSD providers who want to improve care and the formation of a functional MDT. This is an important dilemma, and one with serious implications for the future of DSD care. If a network of multidisciplinary DSD teams is to be a reality, those directly involved in DSD care must be given the necessary program planning and team implementation tools. This paper offers a protocol and set of tools to meet this need. We present a 6-step process to team formation, and a sample set of tools that can be used to guide, develop, and evaluate a team throughout the course of its operation.

Moran, Mary Elizabeth; Karkazis, Katrina

2012-01-01

276

Absence of PTHrP Nuclear Localization and Carboxyl Terminus Sequences Leads to Abnormal Brain Development and Function  

PubMed Central

We assessed whether the nuclear localization sequences (NLS) and C terminus of parathyroid hormone-related protein (PTHrP) play critical roles in brain development and function. We used histology, immunohistochemistry, histomorphometry, Western blots and electrophysiological recordings to compare the proliferation and differentiation of neural stem cells, neuronal hippocampal synaptic transmission, and brain phenotypes including shape and structures, in Pthrp knock-in mice, which express PTHrP (1–84), a truncated form of the protein that is missing the NLS and the C-terminal region of the protein, and their wild-type littermates. Results showed that Pthrp knock-in mice display abnormal brain shape and structures; decreased neural cell proliferative capacity and increased apoptosis associated with up-regulation of cyclin dependent kinase inhibitors p16, p21, p27 and p53 and down-regulation of the Bmi-1 oncogene; delayed neural cell differentiation; and impaired hippocampal synaptic transmission and plasticity. These findings provide in vivo experimental evidence that the NLS and C-terminus of PTHrP are essential not only for the regulation of neural cell proliferation and differentiation, but also for the maintenance of normal neuronal synaptic transmission and plasticity.

Gu, Zhen; Liu, Yahong; Zhang, Yongjie; Jin, Shulei; Chen, Qi; Goltzman, David; Karaplis, Andrew; Miao, Dengshun

2012-01-01

277

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.

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

2011-01-01

278

Multiple Renal Cyst Development but Not Situs Abnormalities in Transgenic RNAi Mice against Inv::GFP Rescue Gene  

PubMed Central

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.

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

2014-01-01

279

Gender assignment surgery on children with disorders of sex development: a case report and discussion from South Africa.  

PubMed

This case report highlights the dilemma faced by staff with regard to the timing of surgery on a child with a disorder of sex development living in a large, lower socio-economic class, South African, urban township. In this community, children with disorders of sex development can sometimes become an object of interest and ridicule or are thought to be bewitched. Many parents of children with such disorders find it difficult to protect their offspring from the marginalization and rejection that is the consequence of such curiosity and transparency. Current research and theory pertaining to the biological and social bases of gender identity and behaviour are reviewed and their capacity to guide decisions is explored. The absence of a support group to assist these children and their parents, and the paucity of information available in the public domain, compounds an already challenging problem. PMID:18287184

Rebelo, Ethelwyn; Szabo, Christopher P; Pitcher, Graeme

2008-03-01

280

Ethical principles and recommendations for the medical management of differences of sex development (DSD)\\/intersex in children and adolescents  

Microsoft Academic Search

\\u000a Abstract  The medical management of differences of sex development (DSD)\\/intersex in early childhood has been criticized by patients’\\u000a advocates as well as bioethicists from an ethical point of view. Some call for a moratorium of any feminizing or masculinizing\\u000a operations before the age of consent except for medical emergencies. No exhaustive ethical guidelines have been published\\u000a until now. In particular, the

Claudia Wiesemann; Susanne Ude-Koeller; Gernot H. G. Sinnecker; Ute Thyen

2010-01-01

281

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

282

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

283

Accrediting success: evaluation of a pilot professional development scheme for teachers of sex and relationship education  

Microsoft Academic Search

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 special school teachers enrolled in the scheme, their

Ian Warwick; Peter Aggleton; Kim Rivers

2005-01-01

284

Sex chromosomes and brain gender  

Microsoft Academic Search

In birds and mammals, differences in development between the sexes arise from the differential actions of genes that are encoded on the sex chromosomes. These genes are differentially represented in the cells of males and females, and have been selected for sex-specific roles. The brain is a sexually dimorphic organ and is also shaped by sex-specific selection pressures. Genes on

Arthur P. Arnold

2004-01-01

285

Models of Abnormal Scarring  

PubMed Central

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

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

2013-01-01

286

The relationships among parent-adolescent differentiation, sex role orientation and identity development in late adolescence and early adulthood.  

PubMed

This study had three main objectives. The first was an attempt to clarify inconsistencies in research on family characteristics and identity formation. The second was to test a model that has been discussed over the past several years based on Bowen's intergenerational family systems theory. Finally, gender differences were explored within the models hypothesized. The models included family differentiation variables, sex role orientation and adolescent identity development. The path models that included mother/adolescent and father/adolescent differentiation, masculinity and femininity scales, and ideological and interpersonal identity achievement in separate analyses were tested using LISREL VII. The results suggested that interpersonal and ideological identity domains were differentially related to differentiation in the family system and sex role orientation. There were also gender differences. These results are discussed in relation to previous research evidence about family characteristics that best support identity achievement for males and females. PMID:9368132

Bartle-Haring, S

1997-10-01

287

Development of Sex Pheromone Trap for Monitoring Matsumuraeses falcana (Walshingham) (Lepidoptera: Tortricidae)  

Microsoft Academic Search

This study was carried out to find out an effective formulation for monitoring the soybean podborer, Matsumuraeses falcana (Walshingham), using its sex pheromone in Korea. A 1 : 1 : 1 mixture of (E)-8-dodecenyl acetate (E 8–12: Ac), (E,E)-8,10-dodecadienyl acetate (E 8 E 10–12: Ac) and (E,Z)-7,9-dodecadienyl acetate (E 7 Z 9–12: Ac) was an effective composition in monitoring M.

Jum Rae Cho; Kyung San Choi; Jin Kyo Jung; Jong Ho Park; Bo Yoon Seo

2007-01-01

288

Development of the femur--implications for age and sex determination.  

PubMed

Growth of four variables of the femur (diapyseal length, diaphyseal length plus distal epiphysis, maximum length and vertical diameter of the head) was analyzed by polynomial regression for the purpose of evaluating its significance and capacity for age and sex determination throughout the entire life continuum. Materials included in analysis consisted of 346 specimens ranging from birth to 97 years of age from five documented osteological collections of Western European descent. Linear growth was displayed by each of the four variables. Significant sexual dimorphism was identified in two of the femoral measurements, including maximum length and vertical diameter of the head, from age 15 onward. These results indicate that the two variables may be of use in the determination of sex in sex determination from that age onward. Strong correlation coefficients were identified between femoral size and age for each of the four metric variables. These results indicate that any of the femoral measurements is likely to serve as a useful source to estimate sub-adult age in both archaeological and forensic samples. PMID:18692331

Rissech, Carme; Schaefer, Maureen; Malgosa, Assumpció

2008-08-25

289

111. INHERITANCE OF SEX AND CROSSING OVER OF THE SEX CHROMOSOMES IN THE PLATYFISHl  

Microsoft Academic Search

AIDA (1921) has shown in the Japanese ricefield killifish, Aplocheilus, that the X and Y chromosomes of the male occasionally cross over. In 1930 he presented additional data on this, together with some interesting data involving aberrant sex ratios, which he interpreted as due to non- disjunction. In 1936 AIDA re-interpreted the abnormal sex ratios as due to sex reversal,

MYRON GORDON

290

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.

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

291

On the development of abnormally large postsunset upward drift of equatorial F region under quiet geomagnetic conditions  

Microsoft Academic Search

The regular postsunset enhancement of upward drift of the equatorial F region is observed to be abnormally large on certain quiet days (Ap<=5) as manifested by an anomalous dusktime increase of F region height. We explored the origin of this extreme form of the quiet-time variability of postsunset vertical drift\\/height through case studies using data from the ionosonde and magnetometer

J. Hanumath Sastri

1998-01-01

292

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

293

MicroRNA-122 influences the development of sperm abnormalities from human induced pluripotent stem cells by regulating TNP2 expression.  

PubMed

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

Liu, Te; Huang, Yongyi; Liu, Jianjun; Zhao, Yanhui; Jiang, Lizhen; Huang, Qin; Cheng, Weiwei; Guo, Lihe

2013-06-15

294

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

295

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

296

Androgen and the Development of Human Sex-Typical Behavior: Rough-and-Tumble Play and Sex of Preferred Playmates in Children with Congenital Adrenal Hyperplasia (CAH).  

ERIC Educational Resources Information Center

Examined the rough-and-tumble play and gender of preferred playmates in three- to eight-year olds with congenital adrenal hyperplasia (CAH)--hypothesized to masculinize behaviors that show sex differences--and in unaffected three- to eight-year-old relatives. Found that CAH girls did not exhibit increased levels of masculine behavior when compared…

Hines, Melissa; Kaufman, Francine R.

1994-01-01

297

Sex pheromone of hickory shuckwormCydia caryana Development of an effective field Lure.  

PubMed

Extracts of the sex pheromone glands of femaleCydia caryana were evaluated by electroantennography and gas chromatography-mass spectrometry. These studies suggested the following compounds were potential sex pheromone components: (Z)-8- and/or (E)-9-dodecenyl acetate (50 pg/female), dodecyl acetate (40 pg/female), and (E, E)-8,10-dodecadienyl acetate (25 pg/female). In field tests only the diene produced trap catch, and when the other components were added to the diene, trap catch was not increased. When the diene was formulated in red natural rubber septa, only transient and low catches were obtained, but when gray halobutyl isoprene elastomeric septa were used, high and consistent catches were obtained for eight weeks. Catches depended on the ratio of (E, E)-8,10 to (E, Z)-8,10 isomers. High catches were obtained for anEE toEZ ratio of 100 ? 0.6, and insignificant catches were obtained when the ratio was 100 ? 3. Equivalent catches were obtained for dosages of 50, 100, and 200 ?g/septum. PMID:24263492

McDonough, L M; Eikenbary, R D; Smith, M T; Davis, H G; Smithhisler, C L; Hedger, G A; Campbell, R K; Payne, J A; Reid, W; McVay, J R

1990-02-01

298

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

299

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.

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

2013-01-01

300

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

301

Using computer technology for HIV prevention among African-Americans: development of a tailored information program for safer sex (TIPSS).  

PubMed

New prevention options are urgently needed for African-Americans in the United States given the disproportionate impact of HIV/AIDS on this group. This combined with recent evidence supporting the efficacy of computer technology-based interventions in HIV prevention led our research group to pursue the development of a computer-delivered individually tailored intervention for heterosexually active African-Americans--the tailored information program for safer sex (TIPSS). In the current article, we discuss the development of the TIPSS program, including (i) the targeted population and behavior, (ii) theoretical basis for the intervention, (iii) design of the intervention, (iv) formative research, (v) technical development and testing and (vi) intervention delivery and ongoing randomized controlled trial. Given the many advantages of computer-based interventions, including low-cost delivery once developed, they offer much promise for the future of HIV prevention among African-Americans and other at-risk groups. PMID:21257676

Noar, Seth M; Webb, Elizabeth M; Van Stee, Stephanie K; Redding, Colleen A; Feist-Price, Sonja; Crosby, Richard; Troutman, Adewale

2011-06-01

302

Familial (9;11)(p22;p15.5)pat translocation and XX sex reversal in a phenotypic boy with cryptorchidism and delayed development.  

PubMed

We describe a patient with the co-occurrence of a familial 9;11 reciprocal translocation and an XX sex reversal. The patient had cryptorchidism, delayed development, dysmorphic features and attention deficiency hyperactive disorder (ADHD). The proband's karyotype was 46,XX,t(9;11)(p22;p15.5) and he was positive for SRY gene. The father was found to be the carrier of the similar translocation. The co-occurrence of XX sex reversal and autosomal reciprocal translocation has not been described previously. The possible reasons for the manifestation of features other than those found in XX sex reversal is described. PMID:15083697

Prabhakara, K; Angalena, R; Ramadevi, A Radha

2004-01-01

303

Abnormal Uterine Bleeding  

MedlinePLUS

MENU Return to Web version Abnormal Uterine Bleeding Overview What is abnormal uterine bleeding? Abnormal uterine bleeding is any bleeding from the uterus (through your vagina) other than your normal monthly ...

304

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.

BEGIN:VCARD VERSION:2.1 FN:Darryl Leja N:Leja;Darryl ORG:National Human Genome Research Institute REV:2005-04-14 END:VCARD

2005-04-14

305

A Review of Sex Differences in Peer Relationship Processes: Potential Trade-offs for the Emotional and Behavioral Development of Girls and Boys  

PubMed Central

Theory and research on sex differences in adjustment focus largely on parental, societal, and biological influences. However, it also is important to consider how peers contribute to girls’ and boys’ development. This paper provides a critical review of sex differences in: several peer-relationship processes, including behavioral and social-cognitive styles, stress and coping, and relationship provisions. Based on this review, a speculative peer-socialization model is presented that considers the implications of these sex differences for girls’ and boys’ emotional and behavioral development. Central to this model is the idea that sex-linked relationship processes have costs and benefits for girls’ and boys’ adjustment. Finally, we present recent research testing certain model components and propose approaches for testing understudied aspects of the model.

Rose, Amanda J.; Rudolph, Karen D.

2011-01-01

306

Fellatio-associated petechiae of the palate: report of purpuric palatal lesions developing after oral sex.  

PubMed

Fellatio--a sexual act in which the penis is placed into the mouth of another person--can result in submucosal hemorrhage of the palate. A young woman with fellatio-associated palatal petechiae is reported and the features of irrumation-induced oral lesions of the palate are reviewed. Fellatio-associated petechiae and purpura can potentially occur in anyone who engages in receptive penile oral sex. The lesions are asymptomatic and typically appear on the soft palate. Because the fellatrix or fellator may be unaware of the etiology of the lesions or may be reluctant to provide these details of the sexual history, the clinician needs to have a high index of suspicion based on the patient's clinical presentation and collaborating history of preceding fellatio. PMID:24010509

Cohen, Philip R; Miller, Virginia M

2013-07-01

307

Effects of deltamethrin (pyrethroid insecticide) on growth, reproduction, embryonic development and sex differentiation in two strains of Daphnia magna (Crustacea, Cladocera).  

PubMed

Acute and different chronic ecotoxic effects of deltamethrin have been investigated on two strains (coming from two different laboratories) of Daphnia magna. The effective concentrations immobilizing 50% of daphnids (EC50s) after 24 h and 48 h were 9.40 and 0.32 ?g L(-1), 8.86 and 0.63 ?g L(-1) for first strain (strain 1) and second strain (strain 2), respectively. Thus, there was an increase of deltamethrin ecotoxicity with time of exposure as confirmed by chronic studies. After 21 days of exposure to deltamethrin, daphnids have showed significant effects on survival at deltamethrin concentrations of 0.16 ?g L(-1) and 0.31 ?g L(-1) for strains 1 and 2, respectively. Eleven other endpoints were examined: body length, population growth rate and various reproductive parameters (days to first brood, number of broods, number of cumulative molts and number of neonates), embryotoxicity and appearance of males. IC10 values related to the number of juveniles per live adult were 11 and 46 ng L(-1) for strains 1 and 2, respectively. Furthermore, an increase in embryo deformities was observed at the highest concentrations tested for both strains. Following deltamethrin exposure, undeveloped second antennae, curved or unextended shell spines, and curved post abdomen spines were observed in live neonates. The production of male juveniles was only registered with strain 1 at 0.16 ?g L(-1). Results suggest that deltamethrin could act as an endocrine disruptor in D. magna as it interferes with sex determination and development abnormality but there is a difference in sensitivity between the two tested strains. PMID:23639911

Toumi, H; Boumaiza, M; Millet, M; Radetski, C M; Felten, V; Fouque, C; Férard, J F

2013-08-01

308

Tactile stimulation during development attenuates amphetamine sensitization and structurally reorganizes prefrontal cortex and striatum in a sex-dependent manner.  

PubMed

This study investigated the effect of postnatal tactile stimulation (TS) on juvenile behavior, adult amphetamine (AMPH) sensitization, and the interaction of TS and AMPH on prefrontal cortical (PFC) thickness and striatum size. Pups received TS by stroking daily with a feather duster from birth till weaning and were tested, as juveniles, in behavioral tasks including open field locomotion, elevated maze, novel object recognition, and play fighting behavior. Development and persistence of drug-induced behavioral sensitization was tested by chronic AMPH administration and challenge, respectively. PFC thickness and striatum size were assessed from serial brain sections. The findings showed that TS rats spent less time with novel objects on first exposure but open field locomotion and elevated plus maze tasks were not affected substantially. TS reduced the frequency of play fighting and enhanced evasion in response to a playful attack, but only in males. The probability of complete rotation defense, leading to a supine posture during play, was reduced in both sexes. AMPH administration resulted in gradual increase in behavioral sensitization that persisted at least for 2 weeks. However, TS rats exhibited attenuated AMPH sensitization compared to sex-matched controls. Neuroanatomically, AMPH reduced the PFC thickness in control females but enlarged the posterior striatum in control males. TS experience blocked these effects. In summary, TS during development modulated the response to novel objects and altered social behaviors and attenuated AMPH-induced behavioral sensitization by preventing drug-induced structural alteration in the PFC and the striatum, brain regions implicated in drug abuse. PMID:21463020

Muhammad, Arif; Hossain, Shakhawat; Pellis, Sergio M; Kolb, Bryan

2011-04-01

309

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 5years 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

310

Boys and Girls on the Playground: Sex Differences in Social Development Are Not Stable across Early Childhood  

Microsoft Academic Search

Sex differences in human social behaviors and abilities have long been a question of public and scientific interest. Females are usually assumed to be more socially oriented and skilful than males. However, despite an extensive literature, the very existence of sex differences remains a matter of discussion while some studies found no sex differences whereas others reported differences that were

Stéphanie Barbu; Guénaël Cabanes; Gaïd Le Maner-Idrissi

2011-01-01

311

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

312

Advocating Elementary Sex Education.  

ERIC Educational Resources Information Center

Sex education is an important asset to personal growth during the elementary years. Though many parents are opposed to sex education during these early years, sexual knowledge acts as an antidote to fear and does not contribute to promiscuity. New programs in sexuality and family life are presently being developed. (JN)

McNab, Warren L.

1981-01-01

313

Murine BAFF expression is up-regulated by estrogen and interferons: implications for sex bias in the development of autoimmunity.  

PubMed

Systemic lupus erythematosus (SLE) in patients and certain mouse models exhibits a strong sex bias. Additionally, in most patients, increased serum levels of type I interferon (IFN-?) are associated with severity of the disease. Because increased levels of B cell activating factor (BAFF) in SLE patients and mouse models are associated with the development of SLE, we investigated whether the female sex hormone estrogen (E2) and/or IFNs (IFN-? or ?) could regulate the expression of murine BAFF. We found that steady-state levels of BAFF mRNA and protein were measurably higher in immune cells (CD11b(+), CD11c(+), and CD19(+)) isolated from C57BL/6 females than the age-matched male mice. Treatment of immune cells with IFN or E2 significantly increased levels of BAFF mRNA and protein and a deficiency of estrogen receptor-?, IRF5, or STAT1 expression in splenic cells decreased expression of BAFF. Moreover, treatment of RAW264.7 macrophage cells with IFN-?, IFN-?, or E2 induced expression of BAFF. Interestingly, increased expression of p202, an IFN and estrogen-inducible protein, in RAW264.7 cells significantly increased the expression levels of BAFF and also stimulated the activity of the BAFF-luc-reporter. Accordingly, the increased expression of the p202 protein in lupus-prone B6.Nba2-ABC than non lupus-prone C57BL/6 and B6.Nba2-C female mice was associated with increased expression levels of BAFF. Together, our observations demonstrated that estrogen and IFN-induced increased levels of the p202 protein in immune cells contribute to sex bias in part through up-regulation of BAFF expression. PMID:22784990

Panchanathan, Ravichandran; Choubey, Divaker

2013-01-01

314

Development of a decision support tool to facilitate primary care management of patients with abnormal liver function tests without clinically apparent liver disease [HTA03/38/02]. Abnormal Liver Function Investigations Evaluation (ALFIE)  

PubMed Central

Background Liver function tests (LFTs) are routinely performed in primary care, and are often the gateway to further invasive and/or expensive investigations. Little is known of the consequences in people with an initial abnormal liver function (ALF) test in primary care and with no obvious liver disease. Further investigations may be dangerous for the patient and expensive for Health Services. The aims of this study are to determine the natural history of abnormalities in LFTs before overt liver disease presents in the population and identify those who require minimal further investigations with the potential for reduction in NHS costs. Methods/Design A population-based retrospective cohort study will follow up all those who have had an incident liver function test (LFT) in primary care to subsequent liver disease or mortality over a period of 15 years (approx. 2.3 million tests in 99,000 people). The study is set in Primary Care in the region of Tayside, Scotland (pop approx. 429,000) between 1989 and 2003. The target population consists of patients with no recorded clinical signs or symptoms of liver disease and registered with a GP. The health technologies being assessed are LFTs, viral and auto-antibody tests, ultrasound, CT, MRI and liver biopsy. The study will utilise the Epidemiology of Liver Disease In Tayside (ELDIT) database to determine the outcomes of liver disease. These are based on hospital admission data (Scottish Morbidity Record 1), dispensed medication records, death certificates, and examination of medical records from Tayside hospitals. A sample of patients (n = 150) with recent initial ALF tests or invitation to biopsy will complete questionnaires to obtain quality of life data and anxiety measures. Cost-effectiveness and cost utility Markov model analyses will be performed from health service and patient perspectives using standard NHS costs. The findings will also be used to develop a computerised clinical decision support tool. Discussion The results of this study will be widely disseminated to primary care, as well as G.I. hospital specialists through publications and presentations at local and national meetings and the project website. This will facilitate optimal decision-making both for the benefit of the patient and the National Health Service.

Donnan, Peter T; McLernon, David; Steinke, Douglas; Ryder, Stephen; Roderick, Paul; Sullivan, Frank M; Rosenberg, William; Dillon, John F

2007-01-01

315

Same sex, no sex, and unaware sex in neurotoxicology.  

PubMed

Males and females of virtually all species differ in how they respond to their environment. Because such differences exist in almost all biological realms, including disease patterns and therapeutic outcomes, they have evoked calls by various bodies to incorporate their assessment in research. Neurobehavioral indices pose special questions because, unlike outwardly visible markers, they are described by complex functional outcomes or subtle alterations in brain structure. These divergent responses arise because they are inscribed in the genome itself and then by endocrine mechanisms that govern sexual differentiation of the brain during development and operate throughout life. Other organ systems that exhibit sex differences include the liver, an important consideration for neurotoxicology because it may process many toxic chemicals differentially in males and females. Despite the scope and pervasiveness of sex differences, however, they are disregarded by much of neurotoxicology research. Males predominate in behavioral experiments, few such experiments study both sexes, some investigators fail to even describe the sex of their subjects, and in vitro studies tend to wholly ignore sex, even for model systems aimed at neurological disorders that display marked sex differences. The public is acutely aware of sex differences in behavior, as attested by its appetite for books on the topic. It closely follows debates about the proportion of women in professions that feature science and mathematics. Neurotoxicology, especially in the domain of laboratory research, will be hindered in its ability to translate its findings into human health measures if it assigns sex differences to a minor role. It must also be sensitive to how such debates are framed. Often, the differences evoking the most discussion are subtle in scope. They do not lend themselves to the typical analyses conducted by experimenters; that is, reliance on mean differences and null hypothesis testing. PMID:20875453

Weiss, Bernard

2011-10-01

316

Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex development  

PubMed Central

BACKGROUND: Determination of sex is the result of cascade of molecular events that cause undifferentiated bipotential gonad to develop as a testis or an ovary. A series of genes such as SRY, steroidogenic factor-1 (SF1), AR, SRD5 ?, Desert hedgehog (DHH) etc., have been reported to have a significant role in development of sex in the fetus and secondary sexual characteristics at the time of puberty. Recently, mitogen activated protein kinase kinase kinase 1 (MAP3K1) gene was found to be associated with 46, XY disorders of sex development (DSD). AIM: The present study is focused to identify mutations in MAP3K1 gene in the cohort of 10 Indian patients with 46,XY DSD including one family with two affected sisters. These patients were already screened for SRY, SF1 and DHH gene, but no mutation was observed in any of these genes. MATERIALS AND METHODS: The entire coding regions of MAP3K1 were amplified and sequenced using the gene specific primers. RESULTS AND DISCUSSIONS: Sequence analysis of MAP3K1 gene has revealed four variants including one missense, two silent and one deletion mutation. The missense mutation p.D806N was observed in four patients with hypospadias. Two patients showed the presence of silent mutation p.Q1028Q present in exon 14. Another silent mutation p.T428T was observed in a patient with gonadal dysgenesis. We have also observed one deletion mutation p. 942insT present in two patients. The pathogenicity of the missense mutation p.D806N was carried out using in-silico approach. Sequence homology analysis has revealed that the aspartate at 806 was found to be well-conserved across species, indicated the importance of this residue. The score for polyphen analysis of this mutation was found to be 0.999 indicating to be pathogenic mutation. Since, p.D806N mutation was found to be important residue; it might contribute to sexual development. We have reported the presence of mutations/polymorphism in MAP3K1 gene. All the mutations were found to be polymorphism upon comparing to single nucleotide polymorphism database. However, in-silico analysis of the missense mutation revealed to be a pathogenic mutation.

Das, Dhanjit Kumar; Rahate, Subodh G; Mehta, Bhakti P; Gawde, Harshavardhan M; Tamhankar, Parag M

2013-01-01

317

Humeral development from neonatal period to skeletal maturity--application in age and sex assessment.  

PubMed

The goal of the present study is to examine cross-sectional information on the growth of the humerus based on the analysis of four measurements, namely, diaphyseal length, transversal diameter of the proximal (metaphyseal) end of the shaft, epicondylar breadth and vertical diameter of the head. This analysis was performed in 181 individuals (90 ? and 91 ?) ranging from birth to 25 years of age and belonging to three documented Western European skeletal collections (Coimbra, Lisbon and St. Bride). After testing the homogeneity of the sample, the existence of sexual differences (Student's t- and Mann-Whitney U-test) and the growth of the variables (polynomial regression) were evaluated. The results showed the presence of sexual differences in epicondylar breadth above 20 years of age and vertical diameter of the head from 15 years of age, thus indicating that these two variables may be of use in determining sex from that age onward. The growth pattern of the variables showed a continuous increase and followed first- and second-degree polynomials. However, growth of the transversal diameter of the proximal end of the shaft followed a fourth-degree polynomial. Strong correlation coefficients were identified between humeral size and age for each of the four metric variables. These results indicate that any of the humeral measurements studied herein is likely to serve as a useful means of estimating sub-adult age in forensic samples. PMID:22588220

Rissech, Carme; López-Costas, Olalla; Turbón, Daniel

2013-01-01

318

Sex-Selective Abortions in India  

Microsoft Academic Search

Provisional estimates from the 2001 census of India, which showed unusually high sex ratios for young children, have sparked renewed concern about the growing use of sex-selective abortions to satisfy parental preferences for sons. According to the 1998-99 National Family Health Survey (NFHS-2), in recent years the sex ratio at birth in India has been abnormally high (107-121 males per

Fred Arnold; Sunita Kishor; T. K. Roy

2002-01-01

319

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

PubMed

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

2013-10-15

320

Differences in anxiety and depression between male and female caregivers of children with a disorder of sex development.  

PubMed

Abstract Purpose/Background: To examine whether male and female caregivers of children with a disorder of sex development (DSD) differ in levels of anxious and depressive symptoms. Materials/Methods: Participants included 80 caregivers (40 males, 40 females) of 40 children with a DSD. Children were categorized based on illness characteristics including ambiguous genitalia, life-threatening, and life-threatening with ambiguous genitalia. Caregivers completed measures of anxious and depressive symptoms. Results: A significant caregiver×diagnosis interaction for anxious symptoms emerged, with male caregivers of children with both ambiguous genitalia and a life-threatening condition reporting significantly lower levels of anxious symptoms than female caregivers of the same children. Conclusions: The findings are surprising because of the low level of anxious symptoms reported by male caregivers of children with a complex DSD. It is possible that they have disengaged themselves from the child and/or diagnosis, causing their female counterparts to take on more responsibility. PMID:24859514

Wolfe-Christensen, Cortney; Fedele, David A; Mullins, Larry L; Lakshmanan, Yegappan; Wisniewski, Amy B

2014-07-01

321

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

322

Review and update: genomic and molecular advances in sex determination and differentiation in small animals.  

PubMed

Inherited disorders of sexual development are important to identify as a cause of inherited infertility or sterility in humans and animals. Investigation of these disorders in dogs and cats can identify new mutations, allowing us to eliminate inherited disorders from breeding populations, while contributing to the understanding of mammalian sexual development and differentiation. This review updates an overview of normal mammalian sexual development while discussing disorders of sexual development at three consecutive levels, as errors in sex chromosome constitution, gonadal sex determination or phenotypic sexual development. The molecular mechanisms controlling sexual development and current molecular methods to identify causative mutations are illustrated in three specific examples of abnormal sexual development reported in small animals: XX sex reversal, Persistent Mullerian Duct Syndrome and cryptorchidism. Identification of causative mutations and development of practical tests to identify carrier and affected animals will provide effective mechanisms to reduce the prevalence of these disorders in small animals. PMID:19754534

Meyers-Wallen, V N

2009-07-01

323

Sex differences in stroke  

PubMed Central

Sex differences in stroke are observed across epidemiologic studies, pathophysiology, treatments, and outcomes. These sex differences have profound implications for effective prevention and treatment and are the focus of this review. Epidemiologic studies reveal a clear age-by-sex interaction in stroke prevalence, incidence, and mortality. While premenopausal women experience fewer strokes than men of comparable age, stroke rates increase among postmenopausal women compared with age-matched men. This postmenopausal phenomenon, in combination with living longer, are reasons for women being older at stroke onset and suffering more severe strokes. Thus, a primary focus of stroke prevention has been based on sex steroid hormone-dependent mechanisms. Sex hormones affect different (patho)physiologic functions of the cerebral circulation. Clarifying the impact of sex hormones on cerebral vasculature using suitable animal models is essential to elucidate male–female differences in stroke pathophysiology and development of sex-specific treatments. Much remains to be learned about sex differences in stroke as anatomic and genetic factors may also contribute, revealing its multifactorial nature. In addition, the aftermath of stroke appears to be more adverse in women than in men, again based on older age at stroke onset, longer prehospital delays, and potentially, differences in treatment.

Haast, Roy A M; Gustafson, Deborah R; Kiliaan, Amanda J

2012-01-01

324

A theoretical analysis of sex differences in same-sex friendships  

Microsoft Academic Search

An investigation of sex differences in same-sex friendships was conducted in terms of the intersection and social penetration model of relationship development, and Bem's theory of sex role orientation. The results indicated that there were significant sex differences in the nature of the same-sex friendships studied. In the terminology of Levinger's (“Toward the Analysis of Close Relationships,” Journal of Experimental

Robert J. Barth; Bill N. Kinder

1988-01-01

325

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

PubMed

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

326

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.

2012-01-01

327

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

328

Effect of energy source during culture on in vitro embryo development, resistance to cryopreservation and sex ratio.  

PubMed

The aim of this work was to evaluate whether minimizing the glucose concentration during culture or replacing the hexose with other energy substrates and/or embryotrophic compounds would affect the in vitro development, the resistance to cryopreservation and the sex ratio of bovine embryos. In vitro matured and fertilized oocytes were randomly assigned to 4 groups for in vitro culture, that differed in the energy substrates included: group A) 1.5 mM glucose, as in standard SOF; group B) 0.15 mM glucose; group C) 0.125 mM G3P, in the presence of 0.15 mM glucose and group D) 0.34 mM citrate, in combination with 2.77 mM myo-inositol. Blastocysts were evaluated on day 7, then vitrified by cryotop in 16.5% DMSO, 16.5% EG and 0.5 M sucrose and warmed in decreasing concentration of sucrose (0.25 to 0.15 M sucrose). The survival rates were assessed after 24 h in vitro culture. Finally, the blastocysts produced were sexed by PCR. An increased blastocyst rate was recorded in groups B, C and D, i.e., when glucose concentration was reduced, compared to group A (28.2, 41.0, 35.7 and 35.8, respectively in groups A, B, C and D; P < 0.01). However, the embryos cultured in group D showed the slowest developmental speed, indicated by the lowest percentage of advanced stage-embryos (expanded and hatched blastocysts) out of the total blastocysts (56.1, 45.8, 56.9 and 31.8 %, respectively in groups A, B, C and D; P < 0.01). Furthermore, survival rates after 24 h culture of vitrified-warmed blastocysts also decreased in group D (73.3, 73.1, 71.4 and 58.4%, respectively in groups A, B, C and D; P < 0.01). Interestingly, in group D a higher percentage of female embryos was obtained compared to group A, with intermediate values in groups B and C (45.6, 53.4, 50.0 and 61.5%, respectively in groups A, B, C and D; P < 0.05). In conclusion, it was demonstrated that the energy substrate during in vitro culture affects both the production and the viability of blastocysts. Furthermore, manipulating the metabolic profile of embryos during in vitro culture may have an impact on sex ratio. PMID:21820719

Rubessa, Marcello; Boccia, Lucia; Campanile, Giuseppe; Longobardi, Valentina; Albarella, Sara; Tateo, Alessandra; Zicarelli, Luigi; Gasparrini, Bianca

2011-10-15

329

Disorders of sexual development in the domestic horse, Equus caballus.  

PubMed

Abnormalities of sexual development causing infertility in horses have been investigated since the early 1970's. Conventional cytogenetic analysis by karyotyping has been the primary tool used to investigate these horses. Abnormalities have a broad range, from a phenotypically normal mare with gonadal dysgenesis to a horse with ambiguous external genitalia and internal male and female organs. Cytogenetic analysis can determine genetic sex but cannot identify mutations or deletions of genes involved in the sex determination pathway. Molecular technologies have been developed to confirm cytogenetic results and to aid in identifying the genetic causes of abnormal sex determination in horses. In this paper, we review the historical development of methods used to understand abnormal sexual development in the horse as well as summarize cases reported over the last 40-50 years. PMID:22095202

Lear, T L; McGee, R B

2012-01-01

330

Dexamethasone induces apoptosis in the developing rat amygdala in an age-, region-, and sex-specific manner.  

PubMed

Exposure to glucocorticoids (GCs) in early development can lead to long-term changes in brain function and behavior, although little is known about the underlying neural mechanisms. Perinatal exposure to GCs alters adult anxiety and neuroendocrine responses to stress. Therefore, we investigated the effects of either late gestational or neonatal exposure to the GC receptor agonist dexamethasone (DEX), on apoptosis within the amygdala, a region critical for emotional regulation. DEX was administered to timed-pregnant rat dams from gestational day 18 until parturition, or postnatal day 4-6. Offspring were sacrificed the day following the last DEX treatment, and tissue was processed for immunohistochemical detection of cleaved caspase-3, a marker for apoptotic cells. Prenatal DEX treatment significantly increased the number of cleaved caspase-3-positive cells in the amygdala of both sexes, largely due to increases within the medial and basomedial subregions. Postnatal DEX treatment also increased cleaved caspase-3 immunoreactivity within the amygdala, although effects reached significance only in the central nucleus of females. Overall, DEX induction of cleaved caspase-3 in the amygdala was greater following prenatal compared with postnatal treatment, yet in both instances, elevations in cleaved caspase-3 correlated with an increase in pro-apoptotic Bax mRNA expression. Dual-label immunohistochemistry of cleaved caspase-3 and the neuronal marker NeuN confirmed that virtually all cleaved caspase-3-positive cells in the amygdala were neurons, and a subset of these cells (primarily following postnatal treatment) expressed a GABAergic calcium-binding protein phenotype (calbindin or calretinin). Together these results indicate that early developmental GC exposure induces neuronal apoptosis within the amygdala in an age-, sex-, and region-dependent manner. PMID:22008524

Zuloaga, D G; Carbone, D L; Hiroi, R; Chong, D L; Handa, R J

2011-12-29

331

Dach1 Mutant Mice Bear No Gross Abnormalities in Eye, Limb, and Brain Development and Exhibit Postnatal Lethality  

Microsoft Academic Search

Drosophila dachshund is necessary and sufficient for compound eye development and is required for normal leg and brain development. A mouse homologue of dachshund, Dach1, is expressed in the developing retina and limbs, suggesting functional conservation of this gene. We have generated a loss-of-function mutation in Dach1 that results in the abrogation of the wild-type RNA and protein expression pattern

RICHARD J. DAVIS; WEIPING SHEN; YAKOV I. SANDLER; MEHRAN AMOUI; PATRICIA PURCELL; RICHARD MAAS; CHING-NAN OU; HANNES VOGEL; ARTHUR L. BEAUDET; GRAEME MARDON

2001-01-01

332

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

333

Skeletal limb abnormalities  

MedlinePLUS

Skeletal limb abnormalities refer to a variety of bone structure problems in the arms or legs (limbs). ... Skeletal limb abnormalities are most often used to describe defects in the legs or arms that are ...

334

Sex-specific control of flurothyl-induced tonic-clonic seizures by the substantia nigra pars reticulata during development.  

PubMed

The substantia nigra pars reticulata (SNR) plays an important age- and sex-specific role in control of clonic seizures. Its involvement in control of tonic-clonic seizures is contradictory. We investigated the role of the SNR in the tonic-clonic seizures induced in male, female and neonatally castrated male rats using flurothyl. In adult female rats, vaginal impedance determined the changes in progesterone/estrogen ratio. Rats at various postnatal ages received infusions of muscimol or vehicle in the SNRanterior or SNRposterior. Furthermore, in 15-day-old (P15) and adult male rats, ZAPA (a GABA(A) receptor agonist) or AP7 (an NMDA receptor antagonist) was infused. The developmental profile of tonic-clonic seizure threshold differed between male and female rats possibly due to early postnatal testosterone surge in male rats. On the other hand, changing estrogen/progesterone ratio in cycling adult female rats had no effect on seizure threshold. Intranigral muscimol had proconvulsant effects on tonic-clonic seizures only in immature rats, and this effect was dependent on the perinatal testosterone surge. ZAPA had anticonvulsant effects in P15 rats but was not effective in adult rats. Only AP7 had anticonvulsant effects in both adult and P15 rats. Results indicate that thresholds for flurothyl-induced tonic-clonic seizures develop under the control of postnatal testosterone. Although GABAergic inhibition in the SNR affects tonic-clonic seizures in developing rats, only the NMDA antagonist had consistent anticonvulsant effects throughout development. PMID:16730708

Velísek, Libor; Velísková, Jana; Giorgi, Filippo S; Moshé, Solomon L

2006-09-01

335

Maternal diabetes causes abnormal dynamic changes of endoplasmic reticulum during mouse oocyte maturation and early embryo development  

PubMed Central

Background The adverse effects of maternal diabetes on oocyte maturation and embryo development have been reported. Methods In this study, we used time-lapse live cell imaging confocal microscopy to investigate the dynamic changes of ER and the effects of diabetes on the ER’s structural dynamics during oocyte maturation, fertilization and early embryo development. Results We report that the ER first became remodeled into a dense ring around the developing MI spindle, and then surrounded the spindle during migration to the cortex. ER reorganization during mouse early embryo development was characterized by striking localization around the pronuclei in the equatorial section, in addition to larger areas of fluorescence deeper within the cytoplasm. In contrast, in diabetic mice, the ER displayed a significantly higher percentage of homogeneous distribution patterns throughout the entire ooplasm during oocyte maturation and early embryo development. In addition, a higher frequency of large ER aggregations was detected in GV oocytes and two cell embryos from diabetic mice. Conclusions These results suggest that the diabetic condition adversely affects the ER distribution pattern during mouse oocyte maturation and early embryo development.

2013-01-01

336

The Development, Reliability, and Validity of an Inventory for the Multidimensional Assessment of Sex and Aggression  

Microsoft Academic Search

The impetus for developing an inventory that assesses sexual and aggressive thoughts, fantasies, and behaviors evolved from programmatic work on the classification of sexual offenders. To classify rapists in the Massachusetts Treatment Center Rapist Typology, Version 3, detailed information on several dimensions is required, including social competence, expressive aggression, sadism, juvenile and adult general aggression and antisocial behavior, undifferentiated anger,

RAYMOND A. KNIGHT; ROBERT A. PRENTKY; DAVID D. CERCE

1994-01-01

337

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

338

Disorder of sex development (XX male, SRY negative) in a French bulldog  

PubMed Central

A female French bulldog was presented with an enlarged clitoris. Abdominal surgery revealed a normal uterus and gonads resembling testes. Histologically, the gonads contained seminiferous tubules. The karyotype was XX, and the SRY gene was not detected. A diagnosis of XX male, SRY negative disorder of sexual development was made.

Silversides, David W.; Benoit, Jean-Marc; Collard, Fabien; Gilson, Catherine

2011-01-01

339

The role of pre-treatment white matter abnormalities in developing white matter changes following whole brain radiation: a volumetric study.  

PubMed

White matter injury is a known complication of whole brain radiation (WBRT). Little is known about the factors that predispose a patient to such injury. The current study used MR volumetrics to examine risk factors, in particular the influence of pre-treatment white matter health, in developing white matter change (WMC) following WBRT. Thirty-four patients with unilateral metastatic disease underwent FLAIR MRI pre-treatment and at several time points following treatment. The volume of abnormal FLAIR signal in the white matter was measured in the hemisphere contralateral to the diseased hemisphere at each time point. Analyses were restricted to the uninvolved hemisphere to allow for the measurement of WBRT effects without the potential confounding effects of the disease on imaging findings. The relationship between select pre-treatment clinical variables and the degree of WMC following treatment was examined using correlational and regression based analyses. Age when treated and volume of abnormal FLAIR prior to treatment were significantly associated with WMC following WBRT; however, pre-treatment FLAIR volume was the strongest predictor of post-treatment WMCs. Age did not add any predictive value once white matter status was considered. No significant relationships were found between biological equivalent dose and select cerebrovascular risk factors (total glucose, blood pressure, BMI) and development of WMCs. The findings from this study identify pre-treatment white matter health as an important risk factor in developing WMC following WBRT. This information can be used to make more informed decisions and counsel patients on their risk for treatment effects. PMID:23813291

Sabsevitz, David S; Bovi, Joseph A; Leo, Peter D; Laviolette, Peter S; Rand, Scott D; Mueller, Wade M; Schultz, Christopher J

2013-09-01

340

Do Surgical Interventions Influence Psychosexual and Cosmetic Outcomes in Women with Disorders of Sex Development?  

PubMed Central

Clinical practice developed to promote psychosexual well-being in DSD is under scrutiny. Although techniques for genital surgery have much improved lately, long-term studies on psychosexual functioning and cosmetic outcome on which to base treatment and counseling are scarce. We studied 91 women with a DSD. Feminizing surgery was performed in 64% of the women; in 60% of them, resurgery in puberty was needed after a single-stage procedure. Both patients and gynecologists were satisfied with the cosmetic appearance of the genitalia. However, forty percent of these females experienced sexuality-related distress and 66% was at risk for developing a sexual dysfunction, whether they had surgery or not. Recognizing the difficulty of accurate assessment, our data indicate that feminizing surgery does not seem to improve nor hamper psychosexual outcome, especially in patients with severe virilization.

Callens, Nina; van der Zwan, Yvonne G.; Drop, Stenvert L. S.; Cools, Martine; Beerendonk, Catharina M.; Wolffenbuttel, Katja P.; Dessens, Arianne B.

2012-01-01

341

Sex-specific development of avian flight performance under experimentally altered rearing conditions  

Microsoft Academic Search

Numerous studies have examined predation risk resulting from the costs of impaired flight performance associated with many key life-history stages such as reproduction and migration. Interestingly, although avian nestlings experience multiple resource-based physiological trade-offs and undergo considerable morphological and physiological changes during postnatal development, there is no data available on how nestlings manage the competing demands of growth and the

Jan J. Verspoor; Oliver P. Love; Eloise Rowland; Eunice H. Chin; Tony D. Williams

2007-01-01

342

Multifinality in the Development of Personality Disorders: A Biology x Sex x 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.

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

2009-01-01

343

A 5YearOld Boy with Cryptorchidism and Pubic Hair: Investigation and Management of Apparent Male Disorders of Sex Development in Mid-Childhood  

Microsoft Academic Search

Background: Late presentation of congenital adrenal hyperplasia as a 46,XX disorder of sex development due to 11-? hydroxylase deficiency is uncommon. Such a case raises issues regarding appropriate investigation and management. Case History: A 5-year-old boy who had recently moved to the United Kingdom presented at the endocrinology clinic with recurrent abdominal pain. He was normotensive and had a history

L. S. Keir; S. O’Toole; A. L. Robertson; A. M. Wallace; S. F. Ahmed

2009-01-01

344

Sex differences in the combined effect of chronic stress with impaired vascular endothelium functioning and the development of early atherosclerosis: The Cardiovascular Risk in Young Finns study  

Microsoft Academic Search

BACKGROUND: The syndrome of vital exhaustion (VE), characterized by fatigue and irritability, may contribute to an increased risk of atherosclerosis. The aim of the study was to explore sex differences in the interactions of VE with endothelial dysfunction and VE with reduced carotid elasticity, the important contributors to the development of early atherosclerosis, on preclinical atherosclerosis. METHODS: The participants were

Nadja Chumaeva; Mirka Hintsanen; Markus Juonala; Olli T Raitakari; Liisa Keltikangas-Järvinen

2010-01-01

345

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

ERIC Educational Resources Information Center

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…

Aune, Tore; Stiles, Tore C.

2009-01-01

346

EFFECTS OF IN UTERO AND LACTATIONAL AMMONIUM PERCHLORATE EXPOSURE ON THYROID GLAND HISTOLOGY AND THYROID AND SEX HORMONES IN DEVELOPING DEER MICE ( PEROMYSCUS MANICULATUS ) THROUGH POSTNATAL DAY 21  

Microsoft Academic Search

Thyroid gland hormone levels and histology and sex hormone levels in developing deer mice ( Peromyscus maniculatus ) were measured following in utero and lactational exposure to ammonium perchlorate (AP), a component of rocket fuel and a thyroid toxicant. Breeding pairs were dosed continuously with 0, 1 n M , 1 µ M , or 1 m M concentrations of

Kerry A. Thuett; Ellen H. Roots; Lisa P. Mitchell; Burnella A. Gentles; Todd Anderson; Ronald J. Kendall; Ernest E. Smith

2002-01-01

347

Abnormal Mammary Gland Development and Growth Retardation in Female Mice and MCF7 Breast Cancer Cells Lacking Androgen Receptor  

PubMed Central

Phenotype analysis of female mice lacking androgen receptor (AR) deficient (AR?/?) indicates that the development of mammary glands is retarded with reduced ductal branching in the prepubertal stages, and fewer Cap cells in the terminal end buds, as well as decreased lobuloalveolar development in adult females, and fewer milk-producing alveoli in the lactating glands. The defective development of AR?/? mammary glands involves the defects of insulin-like growth factor I–insulin-like growth factor I receptor and mitogen-activated protein kinase (MAPK) signals as well as estrogen receptor (ER) activity. Similar growth retardation and defects in growth factor–mediated Ras/Raf/MAPK cascade and ER signaling are also found in AR?/? MCF7 breast cancer cells. The restoration assays show that AR NH2-terminal/DNA-binding domain, but not the ligand-binding domain, is essential for normal MAPK function in MCF7 cells, and an AR mutant (R608K), found in male breast cancer, is associated with the excessive activation of MAPK. Together, our data provide the first in vivo evidence showing that AR-mediated MAPK and ER activation may play important roles for mammary gland development and MCF7 breast cancer cell proliferation.

Yeh, Shuyuan; Hu, Yueh-Chiang; Wang, Peng-Hui; Xie, Chao; Xu, Qingquan; Tsai, Meng-Yin; Dong, Zhihong; Wang, Ruey-Sheng; Lee, Ting-Hein; Chang, Chawnshang

2003-01-01

348

Impact of lipid abnormalities in development and progression of transplant coronary disease: a serial intravascular ultrasound study  

Microsoft Academic Search

OBJECTIVESWe sought to determine the role of conventional atherosclerosis risk factors in the development and progression of transplant coronary artery disease (CAD) using serial intravascular ultrasound imaging.BACKGROUNDTransplant artery disease is a combination of allograft vasculopathy and donor atherosclerosis. The clinical determinants for each of these disease processes are not well characterized. Intravascular ultrasound imaging is the most sensitive tool to

Samir R Kapadia; Steven E Nissen; Khaled M Ziada; Gustavo Rincon; Timothy D Crowe; Navdeep Boparai; James B Young; E. Murat Tuzcu

2001-01-01

349

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

350

Effect of low dietary lipid on the development of Sj?gren's syndrome and haematological abnormalities in (NZB x NZW)F1 mice.  

PubMed Central

A diet low in fat was found to retard the development of autoimmune disease in (NZB x NZW)F1 mice, whereas diets high in fat content were associated with more severe disease. The ability of a reduced lipid intake to ameliorate the progression of autoimmune disease was indicated by preserved lacrimal gland secretion (measured by a modified Schirmer test), decreased infiltration of inflammatory cells into the exocrine tissue, and decreased severity of immunohaemolytic anaemia as indicated by near-normal packed cell volume and reticulocyte values. These results suggest that nutritional intervention may be of some help in reducing the severity of pathological abnormalities associated with human systemic lupus erythematosus and Sjögren's syndrome. Images

Swanson, C A; Levy, J A; Morrow, W J

1989-01-01

351

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.

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, Jurgen; Brunner, Han G.; Bonafe, Luisa; Veltman, Joris A.; Zabel, Bernhard; Superti-Furga, Andrea

2011-01-01

352

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

353

Disorders of sexual development in the dog and cat.  

PubMed

Normal sexual differentiation occurs in three sequential steps--establishment of chromosomal (genetic) sex, development of gonadal sex, and development of phenotypic sex. Errors in the establishment of chromosomal, gonadal, or phenotypic sex cause abnormal sexual differentiation. Affected individuals are identified with a wide variety of patterns from ambiguous genitalia, to apparently normal genitalia with sterility or infertility. When a patient is suspected of having a disorder of sexual development, analysis of the chromosomal constitution and complete gross and histopathologic description of the gonads, internal and external genitalia are required to correctly categorize the type of disorder. PMID:17482251

Lyle, S K

2007-08-01

354

Abnormal neuronal patterning occurs during early postnatal brain development of Scn1b-null mice and precedes hyperexcitability.  

PubMed

Voltage-gated Na(+) channel (VGSC) ?1 subunits, encoded by SCN1B, are multifunctional channel modulators and cell adhesion molecules (CAMs). Mutations in SCN1B are associated with the genetic epilepsy with febrile seizures plus (GEFS+) spectrum disorders in humans, and Scn1b-null mice display severe spontaneous seizures and ataxia from postnatal day (P)10. The goal of this study was to determine changes in neuronal pathfinding during early postnatal brain development of Scn1b-null mice to test the hypothesis that these CAM-mediated roles of Scn1b may contribute to the development of hyperexcitability. c-Fos, a protein induced in response to seizure activity, was up-regulated in the Scn1b-null brain at P16 but not at P5. Consistent with this, epileptiform activity was observed in hippocampal and cortical slices prepared from the P16 but not from the P5-P7 Scn1b-null brain. On the basis of these results, we investigated neuronal pathfinding at P5. We observed disrupted fasciculation of parallel fibers in the P5 null cerebellum. Further, P5 null mice showed reduced neuron density in the dentate gyrus granule cell layer, increased proliferation of granule cell precursors in the hilus, and defective axonal extension and misorientation of somata and processes of inhibitory neurons in the dentate gyrus and CA1. Thus, Scn1b is critical for neuronal proliferation, migration, and pathfinding during the critical postnatal period of brain development. We propose that defective neuronal proliferation, migration, and pathfinding in response to Scn1b deletion may contribute to the development of hyperexcitability. PMID:23277545

Brackenbury, William J; Yuan, Yukun; O'Malley, Heather A; Parent, Jack M; Isom, Lori L

2013-01-15

355

From genetic abnormality to metastases: murine models of breast cancer and their use in the development of anticancer therapies  

Microsoft Academic Search

Summary  Numerous mouse models of mammary cancer have been developed that mimic selective aspects of human disease. The use of these\\u000a models has enabled preclinical chemotherapeutic, chemoprevention, and genetic therapy studies in vivo, the testing of gene delivery systems, and the identification of tumour and metastasis suppressor and inducer genes. This\\u000a review has discussed the most abundantly used murine models of

P. D. Ottewell; R. E. Coleman; I. Holen

2006-01-01

356

Analysis of the Multiple Roles of Gld-1 in Germline Development: Interactions with the Sex Determination Cascade and the Glp-1 Signaling Pathway  

PubMed Central

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 set 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).

Francis, R.; Maine, E.; Schedl, T.

1995-01-01

357

Mechanisms of action of phthalate esters, individually and in combination, to induce abnormal reproductive development in male laboratory rats.  

PubMed

Phthalate esters are high production volume chemicals used to impart flexibility to polyvinyl chloride products as well as other applications. In the male laboratory rat, the period of sexual differentiation in utero is particularly sensitive to certain phthalate esters, which induce a suite of reproductive malformations, including epididymal and gubernacular agenesis. The fetal rat testes are a main target for phthalate esters as evidenced by a reduction in testosterone production and insulin-like hormone 3 (insl3) expression, a peptide hormone critical for testis descent. Histopathology of fetal and postnatal testes reveals that in utero exposure to phthalate esters disrupts Leydig and Sertoli cell maturation leading to a reduction in germ cells in the malformed seminiferous tubules in adulthood as well as an increased incidence of multinucleated germ cells. There are some strain-specific differences in the target organs in the male reproductive tract in rats affected by phthalate esters. Mixtures of phthalate esters with one another and with other anti-androgenic compounds exhibit cumulative, largely dose-additive effects on male reproductive tract development when administered during sexual differentiation in utero. Since phthalate ester metabolites are detected in maternal and fetal body fluids, and androgen-signaling and insl3 are highly conserved among mammals, phthalates may potentially affect human reproductive development. PMID:18949836

Howdeshell, Kembra L; Rider, Cynthia V; Wilson, Vickie S; Gray, L Earl

2008-10-01

358

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

PubMed

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

2001-03-01

359

Thymidine Kinase 2 Deficiency-Induced Mitochondrial DNA Depletion Causes Abnormal Development of Adipose Tissues and Adipokine Levels in Mice  

PubMed Central

Mammal adipose tissues require mitochondrial activity for proper development and differentiation. The components of the mitochondrial respiratory chain/oxidative phosphorylation system (OXPHOS) are encoded by both mitochondrial and nuclear genomes. The maintenance of mitochondrial DNA (mtDNA) is a key element for a functional mitochondrial oxidative activity in mammalian cells. To ascertain the role of mtDNA levels in adipose tissue, we have analyzed the alterations in white (WAT) and brown (BAT) adipose tissues in thymidine kinase 2 (Tk2) H126N knockin mice, a model of TK2 deficiency-induced mtDNA depletion. We observed respectively severe and moderate mtDNA depletion in TK2-deficient BAT and WAT, showing both tissues moderate hypotrophy and reduced fat accumulation. Electron microscopy revealed altered mitochondrial morphology in brown but not in white adipocytes from TK2-deficient mice. Although significant reduction in mtDNA-encoded transcripts was observed both in WAT and BAT, protein levels from distinct OXPHOS complexes were significantly reduced only in TK2-deficient BAT. Accordingly, the activity of cytochrome c oxidase was significantly lowered only in BAT from TK2-deficient mice. The analysis of transcripts encoding up to fourteen components of specific adipose tissue functions revealed that, in both TK2-deficient WAT and BAT, there was a consistent reduction of thermogenesis related gene expression and a severe reduction in leptin mRNA. Reduced levels of resistin mRNA were found in BAT from TK2-deficient mice. Analysis of serum indicated a dramatic reduction in circulating levels of leptin and resistin. In summary, our present study establishes that mtDNA depletion leads to a moderate impairment in mitochondrial respiratory function, especially in BAT, causes substantial alterations in WAT and BAT development, and has a profound impact in the endocrine properties of adipose tissues.

Villarroya, Joan; Dorado, Beatriz; Vila, Maya R.; Garcia-Arumi, Elena; Domingo, Pere; Giralt, Marta; Hirano, Michio; Villarroya, Francesc

2011-01-01

360

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.

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

361

Gestational stress promotes pathological apneas and sex-specific disruption of respiratory control development in newborn rat.  

PubMed

Recurrent apneas are important causes of hospitalization and morbidity in newborns. Gestational stress (GS) compromises fetal brain development. Maternal stress and anxiety during gestation are linked to respiratory disorders in newborns; however, the mechanisms remain unknown. Here, we tested the hypothesis that repeated activation of the neuroendocrine response to stress during gestation is sufficient to disrupt the development of respiratory control and augment the occurrence of apneas in newborn rats. Pregnant dams were displaced and exposed to predator odor from days 9 to 19 of gestation. Control dams were undisturbed. Experiments were performed on male and female rats aged between 0 and 4 d old. Apnea frequency decreased with age but was consistently higher in stressed pups than controls. At day 4, GS augmented the proportion of apneas with O(2) desaturations by 12%. During acute hypoxia (12% O(2)), the reflexive increase in breathing augmented with age; however, this response was lower in stressed pups. Instability of respiratory rhythm recorded from medullary preparations decreased with age but was higher in stressed pups than controls. GS reduced medullary serotonin (5-HT) levels in newborn pups by 32%. Bath application of 5-HT and injection of 8-OH-DPAT [(±)-8-hydroxy-2-di-(n-propylamino) tetralin hydrobromide; 5-HT(1A) agonist; in vivo] reduced respiratory instability and apneas; these effects were greater in stressed pups than controls. Sex-specific effects were observed. We conclude that activation of the stress response during gestation is sufficient to disrupt respiratory control development and promote pathological apneas in newborn rats. A deficit in medullary 5-HT contributes to these effects. PMID:23303936

Fournier, Stéphanie; Steele, Shelby; Julien, Cécile; Fournier, Sébastien; Gulemetova, Roumiana; Caravagna, Céline; Soliz, Jorge; Bairam, Aida; Kinkead, Richard

2013-01-01

362

Female predisposition to cranial neural tube defects is not because of a difference between the sexes in the rate of embryonic growth or development during neurulation.  

PubMed Central

The susceptibility of females to anencephaly is well established and has been suggested to result from a slower rate of growth and development of female embryos during cranial neurulation. We have tested this hypothesis by measuring the rates of growth and development, both in utero and in vitro, of male and female embryos of the curly tail (ct) mutant mouse strain, in which cranial neural tube defects occur primarily in females. Embryonic growth was assessed by increase in protein content, while development progression was judged from increase in somite number and morphological score. Embryos were sexed by use of the polymerase chain reaction to amplify a DNA sequence specific to the Y chromosome, and by sex chromatin analysis. We find that, during neurulation (between 8.5 and 10.5 days of gestation), males are advanced in growth and development relative to their female litter mates, but that the rates of growth and development do not differ between the sexes during this period. We conclude that rate of embryonic growth and development is unlikely to determine susceptibility to cranial neural tube defects. It seems more likely that male and female embryos differ in some specific aspect(s) of the neurulation process that increases the susceptibility of females to development of anencephaly. Images

Brook, F A; Estibeiro, J P; Copp, A J

1994-01-01

363

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

364

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

365

Electrocardiographic abnormalities in patients with myotonic dystrophy.  

PubMed Central

In examining the incidence and progression of electrocardiographic abnormalities in 45 patients with myotonic dystrophy, 26 (58%) of whom at entry had at least 1 electrocardiographic abnormality, we found conduction abnormalities in 17 (38%). In 21 patients (47%), new abnormalities developed during follow-up (mean, 4.6 years). The overall incidence of electrocardiographic abnormalities increased to 78%, and the incidence of conduction defects increased to 62%. Second-degree or complete atrioventricular block did not develop in any of the patients. Pseudoinfarction patterns were common at entry and during follow-up and were not correlated with evidence of clinical coronary artery disease. There was no correlation between the presence of electrocardiographic abnormalities and apparent disease severity. Images

Florek, R. C.; Triffon, D. W.; Mann, D. E.; Ringel, S. P.; Reiter, M. J.

1990-01-01

366

Ethical principles and recommendations for the medical management of differences of sex development (DSD)/intersex in children and adolescents  

PubMed Central

Abstract The medical management of differences of sex development (DSD)/intersex in early childhood has been criticized by patients’ advocates as well as bioethicists from an ethical point of view. Some call for a moratorium of any feminizing or masculinizing operations before the age of consent except for medical emergencies. No exhaustive ethical guidelines have been published until now. In particular, the role of the parents as legal representatives of the child is controversial. In the article, we develop, discuss, and present ethical principles and recommendations for the medical management of intersex/DSD in children and adolescents. We specify three basic ethical principles that have to be respected and substantiate them. The article includes a critical discussion of the best interest of the child and of family privacy. The argumentation draws upon recommendations by the working group “Bioethics and Intersex” within the German Network DSD/Intersex, which are presented in detail. Unlike other recommendations with regard to intersex, these guidelines represent a comprehensive view of the perspectives of clinicians, patients, and their families. Conclusion The working group identified three leading ethical principles that apply to DSD management: (1) to foster the well-being of the child and the future adult, (2) to uphold the rights of children and adolescents to participate in and/or self-determine decisions that affect them now or later, and (3) to respect the family and parent–child relationships. Nine recommendations for the management of DSD indicate how these ethical principles can spelled out and balanced against each other in the clinical setting.

Ude-Koeller, Susanne; Sinnecker, Gernot H. G.; Thyen, Ute

2009-01-01

367

Complex patterns of abnormal heartbeats  

NASA Astrophysics Data System (ADS)

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 ~105 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

2002-09-01

368

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

369

Splenogonadal fusion and sex reversal.  

PubMed

Splenogonadal fusion is a rare congenital malformation where an abnormal union occurs between the spleen and gonad or mesonephric derivatives. Although it occurs in females it is much less prevalent than in males (male:female ratio, 16:1), but this may partly be because of the inaccessibility of the female gonads leading to under-diagnosis. To our knowledge this is the first case of splenogonadal fusion associated with sex reversal reported in the literature. PMID:22876552

Speare, Ruth; Roberts, Julian; Cohen, Marta; Wales, Jerry

2012-01-01

370

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

371

Divergent expression regulation of gonad development genes in medaka shows incomplete conservation of the downstream regulatory network of vertebrate sex determination.  

PubMed

Genetic control of male or female gonad development displays between different groups of organisms a remarkable diversity of "master sex-determining genes" at the top of the genetic hierarchies, whereas downstream components surprisingly appear to be evolutionarily more conserved. Without much further studies, conservation of sequence has been equalized to conservation of function. We have used the medaka fish to investigate the generality of this paradigm. In medaka, the master male sex-determining gene is dmrt1bY, a highly conserved downstream regulator of sex determination in vertebrates. To understand its function in orchestrating the complex gene regulatory network, we have identified targets genes and regulated pathways of Dmrt1bY. Monitoring gene expression and interactions by transgenic fluorescent reporter fish lines, in vivo tissue-chromatin immunoprecipitation and in vitro gene regulation assays revealed concordance but also major discrepancies between mammals and medaka, notably amongst spatial, temporal expression patterns and regulations of the canonical Hedgehog and R-spondin/Wnt/Follistatin signaling pathways. Examination of Foxl2 protein distribution in the medaka ovary defined a new subpopulation of theca cells, where ovarian-type aromatase transcriptional regulation appears to be independent of Foxl2. In summary, these data show that the regulation of the downstream regulatory network of sex determination is less conserved than previously thought. PMID:23883523

Herpin, Amaury; Adolfi, Mateus C; Nicol, Barbara; Hinzmann, Maria; Schmidt, Cornelia; Klughammer, Johanna; Engel, Mareen; Tanaka, Minoru; Guiguen, Yann; Schartl, Manfred

2013-10-01

372

AKAP13 Rho-GEF and PKD-Binding Domain Deficient Mice Develop Normally but Have an Abnormal Response to ?-Adrenergic-Induced Cardiac Hypertrophy  

PubMed Central

Background A-kinase anchoring proteins (AKAPs) are scaffolding molecules that coordinate and integrate G-protein signaling events to regulate development, physiology, and disease. One family member, AKAP13, encodes for multiple protein isoforms that contain binding sites for protein kinase A (PKA) and D (PKD) and an active Rho-guanine nucleotide exchange factor (Rho-GEF) domain. In mice, AKAP13 is required for development as null embryos die by embryonic day 10.5 with cardiovascular phenotypes. Additionally, the AKAP13 Rho-GEF and PKD-binding domains mediate cardiomyocyte hypertrophy in cell culture. However, the requirements for the Rho-GEF and PKD-binding domains during development and cardiac hypertrophy are unknown. Methodology/Principal Findings To determine if these AKAP13 protein domains are required for development, we used gene-trap events to create mutant mice that lacked the Rho-GEF and/or the protein kinase D-binding domains. Surprisingly, heterozygous matings produced mutant mice at Mendelian ratios that had normal viability and fertility. The adult mutant mice also had normal cardiac structure and electrocardiograms. To determine the role of these domains during ?-adrenergic-induced cardiac hypertrophy, we stressed the mice with isoproterenol. We found that heart size was increased similarly in mice lacking the Rho-GEF and PKD-binding domains and wild-type controls. However, the mutant hearts had abnormal cardiac contractility as measured by fractional shortening and ejection fraction. Conclusions These results indicate that the Rho-GEF and PKD-binding domains of AKAP13 are not required for mouse development, normal cardiac architecture, or ?-adrenergic-induced cardiac hypertrophic remodeling. However, these domains regulate aspects of ?-adrenergic-induced cardiac hypertrophy.

Spindler, Matthew J.; Burmeister, Brian T.; Huang, Yu; Hsiao, Edward C.; Salomonis, Nathan; Scott, Mark J.; Srivastava, Deepak; Carnegie, Graeme K.; Conklin, Bruce R.

2013-01-01

373

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 ...

374

Morphological abnormalities among lampreys  

USGS Publications Warehouse

The experimental control of the sea lamprey (Petromyzon marinus) in the Great Lakes has required the collection of thousands of lampreys. Representatives of each life stage of the four species of the Lake Superior basin were examined for structural abnormalities. The most common aberration was the presence of additional tails. The accessory tails were always postanal and smaller than the normal tail. The point of origin varied; the extra tails occurred on dorsal, ventral, or lateral surfaces. Some of the extra tails were misshaped and curled, but others were normal in shape and pigment pattern. Other abnormalities in larval sea lampreys were malformed or twisted tails and bodies. The cause of the structural abnormalities is unknown. The presence of extra caudal fins could be genetically controlled, or be due to partial amputation or injury followed by abnormal regeneration. Few if any lampreys with structural abnormalities live to sexual maturity.

Manion, Patrick J.

1967-01-01

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

2012-12-01

376

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias  

Microsoft Academic Search

BackgroundMutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including severe forms of hypospadias.Methodology\\/Principal FindingsWe evaluated the frequency of NR5A1 gene mutations in a large series of patients presenting with 46,XY DSD and hypospadias. Based on their clinical presentation 77 patients were classified either

Slimane Allali; Jean-Baptiste Muller; Raja Brauner; Diana Lourenço; Radia Boudjenah; Vasiliki Karageorgou; Christine Trivin; Henri Lottmann; Stephen Lortat-Jacob; Claire Nihoul-Fékété; Olivier de Dreuzy; Ken McElreavey; Anu Bashamboo; Joerg Gromoll

2011-01-01

377

Saving Sex for Later: developing a parent–child communication intervention to delay sexual initiation among young adolescents  

Microsoft Academic Search

Young adolescents in communities with high rates of early sexual initiation are at risk of multiple negative health outcomes. Although sex education programs for this age group are often controversial, surveys document that many mothers and fathers would appreciate guidance about how to discuss sexuality with their children. This paper presents an innovative strategy for reaching inner?city parents and helping

Lydia ODonnell; Kim Dash; Varzi Jeanbaptiste; Jesse Moss; Ann Stueve

2007-01-01

378

The Role of Maternal Control in the Development of Sex Differences in Child Self-Evaluative Factors.  

ERIC Educational Resources Information Center

Examined relationship of maternal control and sex differences in children taking responsibility for failure and possessing strong standards. Found that, in using control, mothers were more likely to grant autonomy to boys than to girls. This socialization pattern partially mediated girls' tendency to take greater responsibility for failure than…

Pomerantz, Eva M.; Ruble, Diane N.

1998-01-01

379

Sex hormone-binding globulin expression in sea bass ( Dicentrarchus labrax L.) throughout development and the reproductive season  

Microsoft Academic Search

Sex hormone-binding globulin (SHBG) transports androgens and estrogens in the blood of vertebrate species, including fish, and regulates the bioavailability and metabolic clearance of these steroids. Liver is the major site of plasma SHBG synthesis, while an SHBG homologue, known as the androgen-binding protein, is produced in testes. When shbg gene expression was examined throughout European sea bass (Dicentrarchus labrax

Solange Miguel-Queralt; Mercedes Blázquez; Francesc Piferrer; Geoffrey L. Hammond

2007-01-01

380

Osteo-Chondroprogenitor-Specific Deletion of the Selenocysteine tRNA Gene, Trsp, Leads to Chondronecrosis and Abnormal Skeletal Development: A Putative Model for Kashin-Beck Disease  

PubMed Central

Kashin-Beck disease, a syndrome characterized by short stature, skeletal deformities, and arthropathy of multiple joints, is highly prevalent in specific regions of Asia. The disease has been postulated to result from a combination of different environmental factors, including contamination of barley by mold mycotoxins, iodine deficiency, presence of humic substances in drinking water, and, importantly, deficiency of selenium. This multifunctional trace element, in the form of selenocysteine, is essential for normal selenoprotein function, including attenuation of excessive oxidative stress, and for the control of redox-sensitive molecules involved in cell growth and differentiation. To investigate the effects of skeletal selenoprotein deficiency, a Cre recombinase transgenic mouse line was used to trigger Trsp gene deletions in osteo-chondroprogenitors. Trsp encodes selenocysteine tRNA[Ser]Sec, required for the incorporation of selenocysteine residues into selenoproteins. The mutant mice exhibited growth retardation, epiphyseal growth plate abnormalities, and delayed skeletal ossification, as well as marked chondronecrosis of articular, auricular, and tracheal cartilages. Phenotypically, the mice thus replicated a number of the pathological features of Kashin-Beck disease, supporting the notion that selenium deficiency is important to the development of this syndrome.

Downey, Charlene M.; Horton, Chelsea R.; Carlson, Bradley A.; Parsons, Trish E.; Hatfield, Dolph L.; Hallgrimsson, Benedikt; Jirik, Frank R.

2009-01-01

381

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

382

Distribution of alpha 1-antitrypsin (PI) phenotypes in chromosome abnormalities.  

PubMed

PI phenotypes (including subtypes) were determined for 168 individuals with chromosomal abnormalities ascertained in Adelaide. These included patients with mosaicism, trisomy 21, trisomy 13, trisomy 18, and various sex chromosome aberrations (45,X, 47,XXX, 47,XXY, 47, XYY, and 48,XXXY). Data did not support an existing proposition that mildly deficient PI phenotypes predispose to abnormal chromosome segregation during mitosis of meiosis. Phenotypic distributions of each group were statistically similar to control populations of cord bloods and bloods donors. PMID:6971795

Mulley, J C; Sutherland, G R

1981-01-01

383

Sources of Sex Inequality: Family, Schools, Personality.  

National Technical Information Service (NTIS)

An empirical base upon which a multidisciplinary theory of sex inequality in America was developed. The relative effects of four sets of factors in explaining sex difference in market achievement were measured; a series of hypotheses about causal sequence...

K. E. Paige

1983-01-01

384

Sex during Pregnancy  

MedlinePLUS

... satisfying and safe sexual relationship during pregnancy. Is Sex During Pregnancy Safe? Sex is considered safe during ... frequently asked questions about sex during pregnancy. Can sex harm my baby? No. Your baby is fully ...

385

Sex and Heart Disease  

MedlinePLUS

Sex and Heart Disease Updated:Mar 2,2012 Is sex safe for heart disease patients? Readjusting to everyday ... disease, also called cardiovascular disease, will affect your sex life — or if it’s safe to have sex ...

386

Brain Dysfunction in Sex Offenders.  

ERIC Educational Resources Information Center

Attempted to establish the connection between disordered sexuality and brain impairment by using newly developed techniques of neuropsychological investigation with sex offenders (n=35). Results indicated a major portion of the sex offenders showed impaired brain functioning on Luria-Nebraska Neuropsychological Battery. (Author/ABL)

Galski, Thomas; And Others

1990-01-01

387

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

388

Excessive Astrocyte-Derived Neurotrophin-3 Contributes to the Abnormal Neuronal Dendritic Development in a Mouse Model of Fragile X Syndrome  

PubMed Central

Fragile X syndrome (FXS) is a form of inherited mental retardation in humans that results from expansion of a CGG repeat in the Fmr1 gene. Recent studies suggest a role of astrocytes in neuronal development. However, the mechanisms involved in the regulation process of astrocytes from FXS remain unclear. In this study, we found that astrocytes derived from a Fragile X model, the Fmr1 knockout (KO) mouse which lacks FMRP expression, inhibited the proper elaboration of dendritic processes of neurons in vitro. Furthermore, astrocytic conditioned medium (ACM) from KO astrocytes inhibited proper dendritic growth of both wild-type (WT) and KO neurons. Inducing expression of FMRP by transfection of FMRP vectors in KO astrocytes restored dendritic morphology and levels of synaptic proteins. Further experiments revealed elevated levels of the neurotrophin-3 (NT-3) in KO ACM and the prefrontal cortex of Fmr1 KO mice. However, the levels of nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), glial cell-derived neurotrophic factor (GDNF), and ciliary neurotrophic factor (CNTF) were normal. FMRP has multiple RNA–binding motifs and is involved in translational regulation. RNA–binding protein immunoprecipitation (RIP) showed the NT-3 mRNA interacted with FMRP in WT astrocytes. Addition of high concentrations of exogenous NT-3 to culture medium reduced the dendrites of neurons and synaptic protein levels, whereas these measures were ameliorated by neutralizing antibody to NT-3 or knockdown of NT-3 expression in KO astrocytes through short hairpin RNAs (shRNAs). Prefrontal cortex microinjection of WT astrocytes or NT-3 shRNA infected KO astrocytes rescued the deficit of trace fear memory in KO mice, concomitantly decreased the NT-3 levels in the prefrontal cortex. This study indicates that excessive NT-3 from astrocytes contributes to the abnormal neuronal dendritic development and that astrocytes could be a potential therapeutic target for FXS.

Guo, Yan-yan; Liu, Shui-bing; Wu, Yu-mei; Li, Xiao-qiang; Zhao, Ming-gao

2012-01-01

389

The division abnormally delayed (dally) gene: a putative integral membrane proteoglycan required for cell division patterning during postembryonic development of the nervous system in Drosophila.  

PubMed

We have devised a genetic screen to obtain mutants affecting cell division patterning in the developing central nervous system of Drosophila. The division abnormally delayed (dally) locus was identified using a combination of "enhancer trap" and behavioral screening methods. The ordered cell cycle progression of lamina precursor cells, which generate synaptic target neurons for photoreceptors, is disrupted in dally mutants. The first of two lamina precursor cell divisions shows a delayed entry into mitosis. The second division, one that is triggered by an intercellular signal from photoreceptor axons, fails to take place. Similar to lamina precursors, cells that generate the ommatidia of the adult eye show two synchronized divisions found along the morphogenetic furrow in the eye disc and the first division cycle in dally mutants displays a delayed progression into M phase like that found in the first lamina precursor cell division. dally mutations also affect viability and produce morphological defects in several adult tissues, including the eye, antenna, wing and genitalia. Sequencing of a dally cDNA reveals a potential open reading frame of 626 amino acids with homology to a family of Glypican-related integral membrane proteoglycans. These heparan sulfate-containing proteins are attached to the external leaflet of the plasma membrane via a glycosylphosphatidylinositol linkage. Heparan sulfate proteoglycans may serve as co-receptors for a variety of secreted proteins including fibroblast growth factor, vascular endothelial growth factor, hepatocyte growth factor and members of the Wnt, TGF-beta and Hedgehog families. The cell division defects found in dally mutants implicate the Glypican group of integral membrane proteoglycans in the control of cell division during development. PMID:8582281

Nakato, H; Futch, T A; Selleck, S B

1995-11-01

390

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.

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

2014-01-01

391

E2A deficiency leads to abnormalities in alphabeta T-cell development and to rapid development of T-cell lymphomas.  

PubMed Central

The E2A gene products, E12 and E47, are critical for proper early B-cell development and commitment to the B-cell lineage. Here we reveal a new role for E2A in T-lymphocyte development. Loss of E2A activity results in a partial block at the earliest stage of T-lineage development. This early T-cell phenotype precedes the development of a T-cell lymphoma which occurs between 3 and 9 months of age. The thymomas are monoclonal and highly malignant and display a cell surface phenotype similar to that of immature thymocytes. In addition, the thymomas generally express high levels of c-myc. As assayed by comparative genomic hybridization, each of the tumor populations analyzed showed a nonrandom gain of chromosome 15, which contains the c-myc gene. Taken together, the data suggest that the E2A gene products play a role early in thymocyte development that is similar to their function in B-lineage determination. Furthermore, the lack of E2A results in development of T-cell malignancies, and we propose that E2A inactivation is a common feature of a wide variety of human T-cell proliferative disorders, including those involving the E2A heterodimeric partners tal-1 and lyl-1.

Bain, G; Engel, I; Robanus Maandag, E C; te Riele, H P; Voland, J R; Sharp, L L; Chun, J; Huey, B; Pinkel, D; Murre, C

1997-01-01

392

Abnormal menstrual periods (image)  

MedlinePLUS

... may have a variety of causes, such as endometrial hyperplasia, endometrial polyps, uterine fibroids, and abnormal thyroid or ... the endometrium becomes unusually thick it is called endometrial ... Hyperplasia may cause profuse or extended menstrual bleeding.

393

Tooth - abnormal colors  

MedlinePLUS

Abnormal tooth color is any color other than the white to yellowish-white of normal teeth. ... things can cause tooth discoloration. The change in color may affect the entire tooth, or just appear ...

394

GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development.  

PubMed

Genetic sex in mammals is determined by the sex chromosomal composition of the zygote. The X and Y chromosomes are responsible for numerous factors that must work in close concert for the proper development of a healthy sexual phenotype. The role of androgens in case of XY chromosomal constitution is crucial for normal male sex differentiation. The intracellular androgenic action is mediated by the androgen receptor (AR), and its impaired function leads to a myriad of syndromes with severe clinical consequences, most notably androgen insensitivity syndrome and prostate cancer. In this paper, we investigated the possibility that an alteration of the equine AR gene explains a recently described familial XY, SRY?+ disorder of sex development. We uncovered a transition in the first nucleotide of the AR start codon (c.1A>G). To our knowledge, this represents the first causative AR mutation described in domestic animals. It is also a rarely observed mutation in eukaryotes and is unique among the >750 entries of the human androgen receptor mutation database. In addition, we found another quiet missense mutation in exon 1 (c.322C>T). Transcription of AR was confirmed by RT-PCR amplification of several exons. Translation of the full-length AR protein from the initiating GTG start codon was confirmed by Western blot using N- and C-terminal-specific antibodies. Two smaller peptides (25 and 14 amino acids long) were identified from the middle of exon 1 and across exons 5 and 6 by mass spectrometry. Based upon our experimental data and the supporting literature, it appears that the AR is expressed as a full-length protein and in a functional form, and the observed phenotype is the result of reduced AR protein expression levels. PMID:22095250

Révay, T; Villagómez, D A F; Brewer, D; Chenier, T; King, W A

2012-01-01

395

Chromosome abnormalities in Indonesian patients with short stature  

PubMed Central

Background Short stature is associated with several disorders including wide variations of chromosomal disorders and single gene disorders. The objective of this report is to present the cytogenetic findings in Indonesian patients with short stature. Methods G-banding and interphase/metaphase FISH were performed on short stature patients with and without other clinical features who were referred by clinicians all over Indonesia to our laboratory during the year 2003–2009. Results The results of chromosomal analysis of ninety seven patients (mean age: 10.7 years old) were collected. The group of patients with other clinical features showed sex chromosome abnormalities in 45% (18/40) and autosomal abnormalities in 10% (4/40), whereas those with short stature only, 42.1% (24/57) had sex chromosome abnormalities and 1.75% (1/57) had autosomal abnormalities. The autosomal chromosomal abnormalities involved mostly subtelomeric regions. Results discrepancies between karyotype and FISH were found in 10 patients, including detection of low-level monosomy X mosaicism in 6 patients with normal karyotype, and detection of mosaic aneuploidy chromosome 18 in 1 patient with 45,XX,rob(13;14)(q10;q10). Statistical analysis showed no significant association between the groups and the type of chromosomal abnormalities. Conclusion Chromosome abnormalities account for about 50% of the short stature patients. Wide variations of both sex and autosomal chromosomes abnormalities were detected in the study. Since three out of five patients had autosomal structural abnormalities involving the subtelomeric regions, thus in the future, subtelomeric FISH or even a more sensitive method such as genomic/SNP microarray is needed to confirm deletions of subtelomeric regions of chromosome 9, 11 and 18. Low-level mosaicism in normal karyotype patients indicates interphase FISH need to be routinely carried out in short stature patients as an adjunct to karyotyping.

2012-01-01

396

[Clone and development of RAPD and SCAR markers linked to sex determination in the dioecious species Humulus scandens L].  

PubMed

In dioecious plants, the important differences of male and female individuals exist in the genome, so it is very significant to do a comparative study on the sex differences with the DNA markers. In this article, Random Amplification Polymorphic DNA (RAPD) technology was used to increase the Humulus scandens female and male genome teams. The results show that two of the 100 primers, S1519 and S2142, respectly produced a sex-linked band only found in tested males, with the length of 1207 bp and 762 bp. These fragments were cloned and sequenced and then aligned with the GenBank database by BLAST, finding that they are abundant in AT (individually 64%, 54.7%), and no sequence was significantly similar. The RAPD markers were then converted into male-linked SCAR (Sequence Characterized Amplified Regions) markers. PMID:19697703

Gao, Wu Jun; Sun, Fu Cong; Yin, Wei Zhi; Ji, Yan Ke; Deng, Chuan Liang; Lu, Long Dou

2009-06-01

397

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

398

Development and characterization of DNA sequence OmyP9 associated with the sex chromosomes in rainbow trout  

Microsoft Academic Search

This work describes the construction and characterization of a sequence characterized amplified DNA region (SCAR DNA), designated OmyP9, that was derived from a RAPD marker associated with the sex chromosomes in rainbow trout. A RsaI restriction fragment length polymorphism in OmyP9 identifies variants A, B and C. We found six OmyP9 variant phenotypes – A, B, C, AB, BC and

Patricia Iturra; Mark Bagley; Nora Vergara; Paula Imbert; Juan F. Medrano

2001-01-01

399

Sex Workers as Safe Sex Advocates: Sex Workers Protect Both Themselves and the Wider Community From HIV.  

PubMed

Since the advent of HIV, significant changes have made the Australian sex industry one of the safest in the world. Creating this safety has been in large part due to the ability of sex workers to act as safe sex advocates through peer-based health promotion; to negotiate with sex business owners; and to inform and participate in the development of government policy. Empowerment of sex workers through legislative reform and government funding of sex worker organizations has been central to the prevention of HV transmission, as has been the development of genuine partnership between sex worker organizations, government departments and those working in public health. The paper describes these responses in some detail and explores some of the current issues facing sex workers in Australia. PMID:24846482

Bates, Julie; Berg, Rigmor

2014-06-01

400

MMPI Profiles of Males with Abnormal Sex Chromosome Complements  

ERIC Educational Resources Information Center

Nine males with Klinefelter's syndrome (XXY) and seven XYY males, located primarily in prisons and psychiatric hospitals, were administered the Minnesota Multiphasic Personality Inventory. (Author/KW)

Rosen, M.; And Others

1971-01-01

401

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

402

Sex Hormones, Insulin Sensitivity, and Diabetes Mellitus  

Microsoft Academic Search

Sex differences and the role of gonadal hormones in modu- lating insulin sensitivity and glucose tolerance are of in- creasing interest and importance because of the increasing prevalence of type 2 diabetes mellitus and the metabolic abnormalities associated with aging. Body composition is closely associated with insulin sensitivity, and increased body fat, particularly in the visceral compartment, is a risk

Cristin M. Bruns; Joseph W. Kemnitz

403

Genomics of sex determination.  

PubMed

Sex determination is a major switch in the evolutionary history of angiosperm, resulting 11% monoecious and dioecious species. The genomic sequences of papaya sex chromosomes unveiled the molecular basis of recombination suppression in the sex determination region, and candidate genes for sex determination. Identification and analyses of sex determination genes in cucurbits and maize demonstrated conservation of sex determination mechanism in one lineage and divergence between the two systems. Epigenetic control and hormonal influence of sex determination were elucidated in both plants and animals. Intensive investigation of potential sex determination genes in model species will improve our understanding of sex determination gene network. Such network will in turn accelerate the identification of sex determination genes in dioecious species with sex chromosomes, which are burdensome due to no recombination in sex determining regions. The sex determination genes in dioecious species are crucial for understanding the origin of dioecy and sex chromosomes, particularly in their early stage of evolution. PMID:24682067

Zhang, Jisen; Boualem, Adnane; Bendahmane, Abdelhafid; Ming, Ray

2014-04-01

404

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

405

Organization and Administration of Sex Education Programs.  

ERIC Educational Resources Information Center

This monograph discusses trends, principles, methods, and techniques for curriculum development in sex education. While sex education in the school curriculum is a controversial issue, many professionals in the field agree that it is important in meeting student's social, psychological, and emotional needs. Recent trends in sex education include…

Whiteside, Patricia W.

406

VEGF, Ang-2 and SRIF associated abnormal postnatal development of the retinal capillary network in the Royal College of Surgeons rat.  

PubMed

To examine retinal angiogenesis in the Royal College of Surgeons rat (RCS) serving as a model for ischemic proliferative retinopathies at morphological, proteomic and mRNA levels in order to evaluate the interplay of morphological and molecular changes in the course of the disease. Photoreceptor degeneration was confirmed by histological cross-sections and optical coherence tomography. The capillary retinal network was visualized in RCS rats aged between 14 and 45 days (P14-P45) by perfusion with high molecular weight fluorescein isothiocyanate-labeled dextran and compared with corresponding Sprague-Dawley rats. Vascular crosstalks within central areas to peripheral retinal eccentricities were analyzed. The expression of vascular growth-associated factors and their receptors in the course of the abnormal vascular development, namely vascular endothelial growth factor (VEGF), VEGF receptor subtype 1 (VEGF-R1) and -2 (VEGF-R2), somatostatin (SRIF), somatostatin receptor subtype 2 (Sstr-2), angiopoietin-2 (Ang-2) and tyrosine kinase with immunoglobulin-like and EGF-like domains 2 (Tie-2), was analyzed by immunohistochemistry, western blotting and quantitative real-time polymerase chain reaction. Underperfused areas without capillarization were found in the middle and peripheral retinal eccentricities of RCS rats until P29. Through the course of vascularization previously low perfused areas became completely perfused, but were characterized by significantly increased neovascularizations. Western blotting revealed specific expression of growth-associated factors and their receptors in the course of capillary development. VEGF was significantly increased until P29 in RCS rats, while SRIF was significantly upregulated at P21 and P29 at proteomic level in SD rats. At mRNA level Ang-2 was significantly upregulated in RCS rats at P29, VEGF-R1 and VEGF-R2 at P36 and SRIF at P36. Initial incomplete perfusion is followed by aberrant vessel formation. VEGF, SRIF, Ang-2 and their receptors are regulated at protein and mRNA levels, providing therapeutic possibilities for treating ischemic proliferative retinopathies in the course of the disease. PMID:21147101

Prokosch, Verena; Fink, Jürgen; Heiduschka, Peter; Melkonyan, Harutyun; Thanos, Solon

2011-02-01

407

Developing understanding of same-sex partner bereavement for older lesbian and gay people: implications for social work practice.  

PubMed

There is little research and literature exploring same-sex partner bereavement in later life or end-of-life experiences of lesbian and gay elders in the United Kingdom. This article considers this often overlooked area of social work practice and explores a range of factors emerging from a small explorative study that considers the experience of loss and bereavement for lesbian and gay elders. Discussion of issues emerging include consideration of the wider psycho-social nature of bereavement and end-of-life experiences for lesbian and gay elders, and the implications this has for social work education and practice. PMID:24006957

Fenge, Lee-Ann

2014-01-01

408

Sex differences in cerebral blood flow following chorioamnionitis in healthy term infants  

PubMed Central

Objective: Sex is an important determinant of neonatal outcomes and may have a significant role in the physiologic response to maternal chorioamnionitis. Our goal was to determine cerebral blood flow (CBF) parameters by sex and subsequent neurodevelopment in healthy term infants exposed to chorioamnionitis. Study Design: CBF by Doppler ultrasound in anterior and middle cerebral (ACA, MCA) and basilar arteries were analyzed for time-averaged maximum velocity (TAMX) and corrected resistive index in 52 term control and chorioamnionitis-exposed infants between 24 and 72?h after birth. Placental pathology confirmed histologic evidence of chorioamnionitis (HC). Bayley Scales of Infant Development-III were administered at 12 months. Result: HC male infants had significantly greater TAMX in the MCA and lower mean MCA and ACA resistance than HC females. Abnormal CBF correlated negatively with neurodevelopmental outcome. Conclusion: CBF is altered in term infants with histologically confirmed chorioamnionitis compared with control infants with sex-specific differences.

Koch, F R; Wagner, C L; Jenkins, D D; Caplan, M J; Perkel, J K; Rollins, L G; Katikaneni, L D; Mulvihill, D M

2014-01-01

409

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.  

PubMed

The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multimerization and long range signaling potency. However, the biological impact of lipid modifications on Hh ligand distribution and signal reception in humans remains unclear. In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. This mutation occurred in the conserved membrane bound O-acyltransferase (MBOAT) domain and experimentally disrupted the ability of HHAT to palmitoylate Hh proteins such as DHH and SHH. Consistent with the patient phenotype, HHAT was found to be expressed in the somatic cells of both XX and XY gonads at the time of sex determination, and Hhat loss of function in mice recapitulates most of the testicular, skeletal, neuronal and growth defects observed in humans. In the developing testis, HHAT is not required for Sertoli cell commitment but plays a role in proper testis cord formation and the differentiation of fetal Leydig cells. Altogether, these results shed new light on the mechanisms of action of Hh proteins. Furthermore, they provide the first clinical evidence of the essential role played by lipid modification of Hh proteins in human testicular organogenesis and embryonic development. PMID:24784881

Callier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; Bernard, Pascal; Kurosaka, Hiroshi; Vannier, Anne; Thauvin-Robinet, Christel; Borel, Christelle; Mazaud-Guittot, Séverine; Rolland, Antoine; Desdoits-Lethimonier, Christèle; Guipponi, Michel; Zimmermann, Céline; Stévant, Isabelle; Kuhne, Françoise; Conne, Béatrice; Santoni, Federico; Lambert, Sandy; Huet, Frederic; Mugneret, Francine; Jaruzelska, Jadwiga; Faivre, Laurence; Wilhelm, Dagmar; Jégou, Bernard; Trainor, Paul A; Resh, Marilyn D; Antonarakis, Stylianos E; Nef, Serge

2014-05-01

410

Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling  

PubMed Central

The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multimerization and long range signaling potency. However, the biological impact of lipid modifications on Hh ligand distribution and signal reception in humans remains unclear. In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. This mutation occurred in the conserved membrane bound O-acyltransferase (MBOAT) domain and experimentally disrupted the ability of HHAT to palmitoylate Hh proteins such as DHH and SHH. Consistent with the patient phenotype, HHAT was found to be expressed in the somatic cells of both XX and XY gonads at the time of sex determination, and Hhat loss of function in mice recapitulates most of the testicular, skeletal, neuronal and growth defects observed in humans. In the developing testis, HHAT is not required for Sertoli cell commitment but plays a role in proper testis cord formation and the differentiation of fetal Leydig cells. Altogether, these results shed new light on the mechanisms of action of Hh proteins. Furthermore, they provide the first clinical evidence of the essential role played by lipid modification of Hh proteins in human testicular organogenesis and embryonic development.

Makrythanasis, Periklis; Bernard, Pascal; Kurosaka, Hiroshi; Vannier, Anne; Thauvin-Robinet, Christel; Borel, Christelle; Mazaud-Guittot, Severine; Rolland, Antoine; Desdoits-Lethimonier, Christele; Guipponi, Michel; Zimmermann, Celine; Stevant, Isabelle; Kuhne, Francoise; Conne, Beatrice; Santoni, Federico; Lambert, Sandy; Huet, Frederic; Mugneret, Francine; Jaruzelska, Jadwiga; Faivre, Laurence; Wilhelm, Dagmar; Jegou, Bernard; Trainor, Paul A.; Resh, Marilyn D.; Antonarakis, Stylianos E.; Nef, Serge

2014-01-01

411

Meiotic chromosome abnormalities in human spermatogenesis.  

PubMed

The last few years have witnessed an explosion in the information about chromosome abnormalities in human sperm and the meiotic events that predispose to these abnormalities. We have determined that all chromosomes are susceptible to nondisjunction, but chromosomes 21 and 22 and, especially, the sex chromosomes have an increased frequency of aneuploidy. Studies are just beginning on the effects of potential mutagens on the chromosomal constitution of human sperm. The effects of pesticides and cancer therapeutic agents have been reviewed. In the last decade, there has been a great impetus to study chromosome abnormalities in sperm from infertile men because the advent of intracytoplasmic sperm injection (ICSI) made it possible for these men to father pregnancies. A large number of studies have demonstrated that infertile men have an increased frequency of chromosomally abnormal sperm and children, even when they have a normal somatic karyotype. Meiotic studies on the pachytene stage of spermatogenesis have demonstrated that infertile men have impaired chromosome synapsis, a significantly decreased frequency of recombination, and an increased frequency of chromosomes completely lacking a recombination site. Such errors make these cells susceptible to meiotic arrest and the production of aneuploid gametes. PMID:16714098

Martin, Renée H

2006-08-01

412

Temporal lobe volume abnormalities precede the prodrome: a study of children presenting antecedents of schizophrenia.  

PubMed

Distributed abnormalities of gray matter (GM) and white matter (WM) volume characterize individuals experiencing their first episode of schizophrenia. Regions of abnormality are present already, albeit less extensively, during the prodromal phase of illness. This study aimed to determine whether putatively at-risk children, aged 9-12 years, who present multiple antecedents of schizophrenia (ASz), display GM and WM volume abnormalities relative to typically developing (TD) children presenting no antecedents. Structural magnetic resonance images were acquired for 20 ASz children and 20 TD children matched on age, sex, and IQ. Whole-brain differences in GM and WM volume were determined using voxel-based morphometry. Relative to the TD group, ASz children showed significantly decreased GM volume in the right middle temporal gyrus (MTG) and increased GM volume in the left superior-middle temporal gyri (P < 0.05, cluster correction). WM volume was significantly increased in ASz children relative to TD children in a cluster encompassing the left inferior parietal lobe, occipital lobe, and superior temporal gyrus. Post-hoc analyses indicated that these abnormalities were not limited to ASz children who self-reported auditory hallucinations on questionnaire. Our findings suggest that children aged 9-12 years who present multiple ASz are characterized by abnormalities of GM and WM volume in the temporal lobes, comprising a subset of the regions affected in first-episode schizophrenia and in the prodromal phase of illness. These preliminary findings indicate that structural brain abnormalities associated with schizophrenia may be detected in putatively at-risk, preprodromal children. Prospective studies following the brain development of at-risk children are needed. PMID:23135906

Cullen, Alexis E; De Brito, Stéphane A; Gregory, Sarah L; Murray, Robin M; Williams, Steven C R; Hodgins, Sheilagh; Laurens, Kristin R

2013-11-01