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1

Abnormalities of human sex determination  

Microsoft Academic Search

Summary Cytogenetic and molecular studies in patients with abnormalities of sex determination have been the key to the isolation and investigation of candidates for the primary testis determining factor (TDF). A gene, SRY, isolated from the sex determining region of the Y chromosome within 5 kilobases of the pairing segment boundary, has been characterized recently which fulfils the expectations of

M. A. Ferguson-Smith

1992-01-01

2

Sex chromosomes and their abnormalities  

E-print Network

to the age of the mother #12;Jacobs syndrome XYY Apparently normal phenotype with possibly increased height is indicated in such patients #12;Sex chromosome anuploidies #12;Klinefelter Syndrome XXY Underdeveloped 2 Barr bodies 1/1000 female births #12;Turner Syndrome XO Missing X chromosome Sexually

Dellaire, Graham

3

Parental Decisions of Prenatally Detected Sex Chromosome Abnormality  

Microsoft Academic Search

Because of the widespread use of amniocentesis, the prenatal recognition of sex chromosome abnormality (SCA) has become increasingly common. Recent lit- erature provided an insight into the understanding of the natural history and prog- nosis for individuals with SCA. Our study was designed to review the parental decision on pregnancy with SCA. Over the last 10 yr, we diagnosed 38

Jung-Yeol Han; Moon-Young Kim; Jae-Hyug Yang; Kyu-Hong Choi; Young-Mi Kim; Jin-Mee Kim; Hyun-Mee Ryu; Samsung Cheil

4

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

Microsoft Academic Search

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

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

2011-01-01

5

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. PMID:11102301

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

2000-01-01

6

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

7

Disorders of Sex Development  

PubMed Central

The birth of a new baby is one of the most dramatic events in a family, and the first question is usually "is it a boy or a girl?" The newborn infant with ambiguous external genitalia often comes as a surprise for the doctors as well as the parents and is sometimes described as an endocrine emergency situation presenting a problem of sex assignment. The nomenclature such as 'intersex', 'hermaphrodite', and 'pseudohermaphrodite' is out of date as well as confusing, and many urologists are concerned that these confusing terms could be perceived to be pejorative by some affected families. In response to concerns regarding outdated and controversial terms, the Chicago Consensus held in 2005 recommended new terminology based on the umbrella term disorders of sex differentiation (DSDs). The term DSD has a comprehensive definition including any problem noted at birth in which the genitalia are atypical in relation to the chromosomes or gonads. The karyotype is used as a prefix defining the classification of DSD. DSDs are rare and complex. The optimal management of patients with DSD must be individualized and multidisciplinary, considering all aspects, including psychological care and full disclosure of alternatives relating to surgery type and timing. Although further studies are necessary to confirm guidelines and recommendations fitting for the individual patients with DSD, this article is an attempt to provide a balanced perspective for new taxonomy, clinical evaluation, and medical, surgical, and psychological management of DSD. PMID:22323966

Kim, Jongwon

2012-01-01

8

Gonadal and Sex Differentiation Abnormalities of Dogs and Cats  

PubMed Central

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

Meyers-Wallen, V.N.

2012-01-01

9

Development of Sex-Role Transcendence  

Microsoft Academic Search

A model of sex-role transcendence is described which emphasizes the dialectical nature of change and the transitions within and between stages of development. Our model conceives of sex-role development as proceeding through three stages: stage I, an undifferentiated conception of sex roles in early childhood; stage II, a polarized, oppositional view of sex roles, and stage III, a dynamic transcendence

Robert Hefner; Meda Rebecca; Barbara Oleshansky

1975-01-01

10

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

11

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

PubMed

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

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

2014-01-30

12

Sex differences in white matter abnormalities after mild traumatic brain injury: localization and correlation with outcome.  

PubMed

Purpose To evaluate sex differences in diffusion-tensor imaging (DTI) white matter abnormalities after mild traumatic brain injury (mTBI) using tract-based spatial statistics (TBSS) and to compare associated clinical outcomes. Materials and Methods The institutional review board approved this study, with waiver of informed consent. DTI in 69 patients with mTBI (47 male and 22 female patients) and 21 control subjects (10 male and 11 female subjects) with normal conventional magnetic resonance (MR) images were retrospectively reviewed. Fractional anisotropy (FA) maps were generated as a measure of white matter integrity. Patients with mTBI underwent serial neurocognitive testing with Immediate Post-Concussion Assessment and Cognitive Testing (ImPACT). Correlation between sex, white matter FA values, ImPACT scores, and time to symptom resolution (TSR) were analyzed with multivariate analysis and TBSS. Results No significant difference in age was seen between males and females (control subjects, P = .3; patients with mTBI, P = .34). No significant difference was seen in initial ImPACT symptom scores (P = .33) between male and female patients with mTBI. Male patients with mTBI had significantly decreased FA values in the uncinate fasciculus (UF) bilaterally (mean FA, 0.425; 95% confidence interval: 0.375, 0.476) compared with female patients with mTBI and control subjects (P < .05), with a significantly longer TSR (P = .04). Multivariate analysis showed sex and UF FA values independently correlated with TSR longer than 3 months (adjusted odds ratios, 2.27 and 2.38; P = .04 and P < .001, respectively), but initial symptom severity did not (adjusted odds ratio, 1.15; P = .35). Conclusion Relative sparing of the UF is seen in female compared with male patients after mTBI, with sex and UF FA values as stronger predictors of TSR than initial symptom severity. © RSNA, 2014. PMID:24802388

Fakhran, Saeed; Yaeger, Karl; Collins, Michael; Alhilali, Lea

2014-09-01

13

Sex Differences in Intellectual and Ego Development.  

ERIC Educational Resources Information Center

Perry's scheme of intellectual and ethical development was examined for sex differences with respect to content areas for which sex differences have elsewhere been suggested: occupational choice, interpersonal relationships, and sexual identity. In addition, the content area religion and ego development, as measured by Loevinger's sentence…

Alishio, Kip C.; Schilling, Karen Maitland

14

Sex, attachment, and the development of reproductive  

E-print Network

, commit- ment in long-term relationships, and higher investment in parenting. Insecure attachmentSex, attachment, and the development of reproductive strategies Marco Del Giudice Center an integrated evolutionary model of the development of attachment and human reproductive strategies

Maestripieri, Dario

15

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature.  

PubMed

We performed a systematic review of factors affecting parental decisions to continue or terminate a pregnancy after prenatal diagnosis of a sex chromosome abnormality, as reported in published studies from 1987 to May 2011. Based on the Matrix Method for systematic reviews, 19 studies were found in five electronic databases, meeting specific inclusion/exclusion criteria. Abstracted data were organized in a matrix. Alongside the search for factors influencing parental decisions, each study was judged on its methodological quality and assigned a methodological quality score. Decisions either to terminate or to continue a sex chromosome abnormality-affected pregnancy shared five similar factors: specific type of sex chromosome abnormality, gestational week at diagnosis, parents' age, providers' genetic expertise, and number of children/desire for (more) children. Factors unique to termination decisions included parents' fear/anxiety and directive counseling. Factors uniquely associated with continuation decisions were parents' socioeconomic status and ethnicity. The studies' average methodological quality score was 10.6 (SD = 1.67; range, 8-14). Findings from this review can be useful in adapting and modifying guidelines for genetic counseling after prenatal diagnosis of a sex chromosome abnormality. Moreover, improving the quality of future studies on this topic may allow clearer understanding of the most influential factors affecting parental decisions. PMID:22237429

Jeon, Kwon Chan; Chen, Lei-Shih; Goodson, Patricia

2012-01-01

16

Mechanisms of Disease: transcription factors in sex determination—relevance to human disorders of sex development  

Microsoft Academic Search

Sex determination is the series of molecular events that direct the undifferentiated bipotential gonad to become either a testis or an ovary. In humans, disruption of this process results in intersexuality, also referred to as disorders of sex development (DSD). Despite the discovery of the sex-determining gene SRY (sex-determining region Y) 15 years ago, the molecular mechanisms of sex determination

Ganka Nikolova; Eric Vilain

2006-01-01

17

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

18

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

19

Using social robots to study abnormal social development  

E-print Network

test that can diagnose autism. Diagnosis relies on the clinician's intuitive feel for the child in their construction, can be unique tools in the study of abnormal social development. Autism is a pervasive evaluations of children for autism per year, this paper discusses how social robots will make an impact

Scassellati, Brian

20

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. PMID:17327287

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

2007-01-01

21

Management of disorders of sex development.  

PubMed

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

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

2014-09-01

22

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

23

Abnormal retinal development associated with FRMD7 mutations  

PubMed Central

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

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

2014-01-01

24

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

Microsoft Academic Search

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

Nigel Barber

2009-01-01

25

The masculinized female and investigation of abnormal sexual development.  

PubMed

The congenital adrenal hyperplasias are the commonest cause of ambiguity of the external genitalia at birth, although sexual differentiation in these disorders is strictly normal. The masculinized genetic female is invariably the result of 21-hydroxylase deficiency. The molecular features are well characterized and the phenotypic correlates are generally concordant. Prenatal treatment by maternal dexamethasone administration can successfully prevent virilization of the external genitalia in an affected female fetus. Placental aromatase is a rare and recently characterized alternative cause of a masculinized female which should be considered in the absence of fetal adrenal hyperplasia and maternal androgen-secreting tumours. The investigation of abnormal sexual development requires an initial karyotype analysis and serum 17OH progesterone measurement to determine whether 21-hydroxylase deficiency is the likeliest cause. Thereafter, the presence of a 46,XY karyotype determines the mode of investigation according to androgen production and action. Obtaining appropriate samples for DNA, biochemical and immunohistochemical analyses is essential if the diagnostic yield for the investigation of abnormal sexual development is to be improved. PMID:9890067

Hughes, I A

1998-04-01

26

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

PubMed Central

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

2011-01-01

27

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 PMID:21465539

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

2011-01-01

28

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

29

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

ERIC Educational Resources Information Center

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

Black, Kathryn Norcross; Campbell, Kathleen M.

30

Meiotic abnormalities  

SciTech Connect

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

NONE

1993-12-31

31

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

PubMed Central

Background Gender appears to be determined by independent programs controlled by the sex-chromosomes and by androgen-dependent programming during embryonic development. To enable experimental dissection of these components in the human, we performed genome-wide profiling of the transcriptomes of peripheral blood mononuclear cells (PBMC) in patients with rare defined "disorders of sex development" (DSD, e.g., 46, XY-females due to defective androgen biosynthesis) compared to normal 46, XY-males and 46, XX-females. Results A discrete set of transcripts was directly correlated with XY or XX genotypes in all individuals independent of male or female phenotype of the external genitalia. However, a significantly larger gene set in the PBMC only reflected the degree of external genital masculinization independent of the sex chromosomes and independent of concurrent post-natal sex steroid hormone levels. Consequently, the architecture of the transcriptional PBMC-"sexes" was either male, female or even "intersex" with a discordant alignment of the DSD individuals' genetic and hormonal sex signatures. Conclusion A significant fraction of gene expression differences between males and females in the human appears to have its roots in early embryogenesis and is not only caused by sex chromosomes but also by long-term sex-specific hormonal programming due to presence or absence of androgen during the time of external genital masculinization. Genetic sex and the androgen milieu during embryonic development might therefore independently modulate functional traits, phenotype and diseases associated with male or female gender as well as with DSD conditions. PMID:19570224

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

2009-01-01

32

HCG stimulation test in children with abnormal sexual development.  

PubMed Central

Plasma testosterone was estimated by radioimmunoassay in 60 children with disorders of sexual development before and after stimulation with human chorionic gonadotrophin (HCG). In 21 children the testosterone levels after 3 and 5 daily injections of 1000 units HCG were compared and good correlation was found between the paired results (r =0-93), suggesting that the 5-day HCG test has no advantage over the 3-day test. In 7 boys with apparently normal genital development the increments in plasma testosterone ranged from 2-0 to 8-5 nmol/1 after 3 injections of HCG. 10 boys with anorchia showed little response to HCG stimulation, but in patients with other disorders, such as micropenis (10), cryptorchidism (8), hermaphroditism (3), male pseudohermaphroditism (13), hypospadias (3), and sex chromosome anomalies (6), there was considerable variation in the plasma testosterone level after HCG. In 2 boys with suspected anorchia the results suggested that testes were present and this was confirmed at operation. PMID:9030

Grant, D B; Laurance, B M; Atherden, S M; Ryness, J

1976-01-01

33

Prenatal Mild Ventriculomegaly Predicts Abnormal Development of the Neonatal Brain  

PubMed Central

Background Many psychiatric and neurodevelopmental disorders are associated with mild enlargement of the lateral ventricles thought to have origins in prenatal brain development. Little is known about development of the lateral ventricles and the relationship of prenatal lateral ventricle enlargement with postnatal brain development. Methods We performed a neonatal MRI on 34 children with isolated mild ventriculomegaly (MVM, width of the atrium of the lateral ventricle ? 1.0 cm) on prenatal ultrasound and 34 age and gender matched controls with normal prenatal ventricle size. Lateral ventricle and cortical gray and white matter volumes were assessed. Fractional anisotropy (FA) and mean diffusivity (MD) in corpus callosum and cortico-spinal white matter tracts were determined obtained using quantitative tractography. Results Neonates with prenatal MVM had significantly larger lateral ventricle volumes than matched controls (286.4%; p < 0.0001). Neonates with MVM also had significantly larger intracranial volumes (ICV; 7.1%, p = 0.0063) and cortical gray matter volumes (10.9%, p = 0.0004) compared to controls. DTI tractography revealed a significantly greater MD in the corpus callosum and cortico-spinal tracts, while FA was significantly smaller in several white matter tract regions. Conclusions Prenatal enlargement of the lateral ventricle is associated with enlargement of the lateral ventricles after birth, as well as greater gray matter volumes and delayed or abnormal maturation of white matter. It is suggested that prenatal ventricle volume is an early structural marker of altered development of the cerebral cortex and may be marker of risk for neuropsychiatric disorders associated with ventricle enlargement. PMID:18835482

Gilmore, John H.; Smith, Lauren C.; Wolfe, Honor M.; Hertzberg, Barbara S.; Smith, J. Keith; Chescheir, Nancy C.; Evans, Dianne D.; Kang, Chaeryon; Hamer, Robert M.; Lin, Weili; Gerig, Guido

2008-01-01

34

Another Look at Parental Antecedents of Sex Role Development.  

ERIC Educational Resources Information Center

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

Jackson, Linda A.; And Others

35

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

36

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.

37

TECHNICAL NOTE Development of a reliable method for determining sex  

E-print Network

TECHNICAL NOTE Development of a reliable method for determining sex for a primitive rodent Science+Business Media B.V. (outside the USA) 2012 Abstract The mountain beaver (Aplodontia rufa sex and age-specific vital rates. Recent studies have employed non-invasive genetic sam- pling

38

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

39

Sex, gender, and pharmaceutical politics: From drug development to marketing  

Microsoft Academic Search

Background: Biological sex differences and sociocultural gender norms affect the provision of health care products and services, but there has been little explicit analysis of the impact of sex differences and gender norms on the regulation of pharmaceutical development and marketing.Objectives: This article provides an overview of the regulation of pharmaceuticals and examines the ways that regulatory agencies account for

Jill A. Fisher; Lorna M. Ronald

2010-01-01

40

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

PubMed

Technical advances are radically altering our concepts of normal prenatal craniofacial development. These include concepts of germ layer formation, the establishment of the initial head plan in the neural plate, and the manner in which head segmentation is controlled by regulatory (homeobox) gene activity in neuromeres and their derived neural crest cells. There is also a much better appreciation of ways in which new cell associations are established. For example, the associations are achieved by neural crest cells primarily through cell migration and subsequent cell interactions that regulate induction, growth, programmed cell death, etc. These interactions are mediated primarily by two groups of regulatory molecules: "growth factors" (e.g., FGF and TGF alpha) and the so-called steroid/thyroid/retinoic acid superfamily. Considerable advances have been made with respect to our understanding of the mechanisms involved in primary and secondary palate formation, such as growth, morphogenetic movements, and the fusion/merging phenomenon. Much progress has been made on the mechanisms involved in the final differentiation of skeletal tissues. Molecular genetics and animal models for human malformations are providing many insights into abnormal development. A mouse model for the fetal alcohol syndrome (FAS), a mild form of holoprosencephaly, demonstrates a mid-line anterior neural plate deficiency which leads to olfactory placodes being positioned too close to the mid-line, and other secondary changes. Work on animal models for the retinoic acid syndrome (RAS) shows that there is major involvement of neural crest cells. There is also major crest cell involvement in similar syndromes, apparently including hemifacial microsomia. Later administration of retinoic acid prematurely and excessively kills ganglionic placodal cells and leads to a malformation complex virtually identical to the Treacher Collins syndrome. Most clefts of the lip and/or palate appear to have a multifactorial etiology. Genetic variations in TGF alpha s, RAR alpha s, NADH dehydrogenase, an enzyme involved in oxidative metabolism, and cytochrome P-450, a detoxifying enzyme, have been implicated as contributing genetic factors. Cigarette smoking, with the attendant hypoxia, is a probable contributing environmental factor. It seems likely that few clefts involve single major genes. In most cases, the pathogenesis appears to involve inadequate contact and/or fusion of the facial prominences or palatal shelves. Specific mutations in genes for different FGF receptor molecules have been identified for achondroplasia and Crouzon's syndrome, and in a regulatory gene (Msx2) for one type of craniosynostosis. Poorly co-ordinated control of form and size of structures, or groups of structures (e.g., teeth and jaws), by regulatory genes should do much to explain the very frequent "mismatches" found in malocclusions and other dentofacial "deformities". Future directions for research, including possibilities for prevention, are discussed. PMID:8664424

Johnston, M C; Bronsky, P T

1995-01-01

41

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

E-print Network

1 Human placental development is impaired by abnormal hCG signaling in trisomy 21 pregnancies a fetus with trisomy 21, with defective syncytiotrophoblast (ST) formation and function. The ST arises, how abnormal endogenous hCG signaling impairs human placental development. HALauthormanuscriptinserm

Boyer, Edmond

42

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

MedlinePLUS

46,XX testicular disorder of sex development Related Chromosome(s) Related Gene(s) References Quick links to this topic ... a condition in which individuals with two X chromosomes in each cell, the pattern normally found in ...

43

Sex Differences in Parietal Lobe Structure and Development  

PubMed Central

Structural MRI studies provide evidence for sex differences in the human brain. Differences in surface area and the proportion of gray to white matter volume are observed, particularly in the parietal lobe. To our knowledge, there are no studies examining sex differences of parietal lobe structure in younger populations or in the context of development. The current study evaluated sex difference in the structure of the parietal lobe in children (7-17 years of age). Also, by adding the cohort of previously studied adults (18-50 years of age), sex differences of parietal lobe morphology were examined across the age span of 7-50 years. In the youth sample, we found that, similar to adults, the ratio of parietal lobe cortex to white matter was greater in females. Unlike the adult sample, there were no sex differences in surface area. When examining effects of age, surface area had a significant sex-by-age interaction. Males had essentially no decrease in surfaces area over time, but females had a significant decrease in surface area over time. These findings support the notion of structural sex differences in the parietal lobe, not only in the context of cross sectional assessment, but also in terms of differences of developmental trajectories. PMID:22333522

Salinas, Joel; Mills, Elizabeth D.; Conrad, Amy L.; Koscik, Timothy; Andreasen, Nancy C.; Nopoulos, Peg

2012-01-01

44

Chromosomal Abnormalities Chromosomal abnormalities  

E-print Network

Lecture 6 Chromosomal Abnormalities #12;Chromosomal abnormalities Numeric Polyploidy- abnormal # of chromosome sets Aneuploidy- abnormal chromosome number Structural Deletion syndromes Duplications Ring chromosomes Centromeric fusions (Robertsonian translocations) Insertion Inversion Paracentric Pericentric

Dellaire, Graham

45

Nineteenth-century European psychiatry on same-sex desires: pathology, abnormality, normality and the blurring of boundaries  

Microsoft Academic Search

By interrogating the intellectual foundations of the normal and pathological within nineteenth-century European psychiatry, this article illustrates the extent to which same-sex desires were located on the borderline between the normal and the pathological. First, this article analyses the early-nineteenth-century French and British medical concepts of folie raisonnante, monomania and moral insanity, and their relationship with medical ideas of same-sex

Chiara Beccalossi

2010-01-01

46

Sex differences in intellectual and ego development in late adolescence.  

PubMed

Perry's scheme of intellectual and ethical development was examined for sex differences with respect to areas of identity concern for which sex differences have been suggested: occupational choice, interpersonal relationships, and sexual identity. The content area of religion and ego development, as measured by Loevinger's sentence completion test (SCT), were also examined. Thirty-one females and 29 males participated. An interview format which applied Perry's unstructured approach to each of the four areas was utilized. Transcribed interviews and SCTs were rated blind. Structural as well as content analyses were performed. Structural analyses revealed no significant sex differences overall or by content area. However, multiple and stepwise regression analyses revealed patterns in which male personality processes consistently focused upon occupational issues while female processes focused upon interpersonal and sexual issues. Ego development was found to be highly correlated with intellectual development for men but unrelated for women. Content analyses suggest that women focus their interpersonal worlds developmentally upon issues of trust while men focus upon issues of rightness. Results are interpreted in the context of recent works by Gilligan concerning sex differences in development. PMID:24306624

Alishio, K C; Schilling, K M

1984-06-01

47

Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly  

Microsoft Academic Search

We report two patients with abnormal development of the lesser wing of the sphenoid bone, globe, optic nerve and cerebral\\u000a hemisphere without stigmata of neurofibromatosis type 1. The lesser wing of the sphenoid bone was abnormally formed and was\\u000a not ossified ipsilateral to the dysmorphic eye and underdeveloped cerebral hemisphere. Maldevelopment of the sphenoid wing\\u000a may interfere with the normal

C. Jacquemin; P. Mullaney; T. M. Bosley

2001-01-01

48

Same-Sex Attraction and Successful Adolescent Development  

ERIC Educational Resources Information Center

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

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

2006-01-01

49

Juvenile sex offenders: development and correction.  

PubMed

This paper addresses the developmental nature of sexually abusive behaviors as they apply to juvenile male sexual offenders. Socialization and sexual victimization are discussed. Three case histories elucidate and support the discussion of the development of victim offending. Significant treatment issues of juvenile male sexual offenders center around the sexual assault cycle which provides a framework for sexual offenders to conceptualize and understand the cognitive, behavioral, psychological, and situational factors which have resulted in their offense(s). Although sexual offenders and sexual offenses are each unique, the sexual assault cycle offers a means of addressing essential commonalities in the treatment of juvenile sexual offenders. Sexual offender specific treatment is viewed as essential for decreasing the risk of further sexual offenses, and thus decreasing the incidence of sexual victimization. PMID:3676895

Ryan, G; Lane, S; Davis, J; Isaac, C

1987-01-01

50

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. PMID:23483838

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

2013-01-01

51

I. Cervical dysplasia = abnormal tissue growth n Cervical cancer develops in the  

E-print Network

11/12/12 1 I. Cervical dysplasia = abnormal tissue growth n Cervical cancer develops in the lining dysplasia to cancer A. Cancerous condition usually develops over time. q Normal cervical cells may gradually undergo changes to become precancerous and then cancerous q Cervical intraepithelial neoplasia (CIN

Dever, Jennifer A.

52

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.

53

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

PubMed

Steroid hormones modulate memory in animals and human adults. Little is known on the developmental effects 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 12-14 years) completed the study. Subjects were presented positive, negative and neutral pictures. Memory recall occurred about 30min 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>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. PMID:18162329

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

2008-02-01

54

Early sex reversal during embryonic development in the Nile tilapia  

Microsoft Academic Search

t he aim of this work was to study the effect of hormonal sex-reversal treatment during embryonic devel - opment of nile tilapia. XX and XY embryos were incubated in 17 ?-methyltestosterone or in 17? -ethynylestradiol during embryonic development. Mean survival rates of embryos 5 days post-hatching ranged from 13.1% to 63.9%. XY embryos incubated in E2 displayed a significant

Carole Rougeot; Christian PRignon; Charles MélaRd

55

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

E-print Network

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

Liskiewicz, Maciej

56

Gilmore et al., Page 1 Prenatal Mild Ventriculomegaly Predicts Abnormal Development of the  

E-print Network

of abnormal prenatal brain development, including schizophrenia (1, 2), autism (3), and attention-deficit/hyperactivity University Medical Center, Durham, NC 4. Department of Radiology, University of North Carolina, Chapel Hill and neurodevelopmental disorders are associated with mild enlargement of the lateral ventricles thought to have origins

Utah, University of

57

Influence of Sex Roles on the Development of Learned Helplessness.  

ERIC Educational Resources Information Center

Examined relationships among sex roles, sex, and learned helplessness. Students were given unsolvable concept-formation problems or solvable concept-formation problems. Feminine-sex-typed and masculine-sex-typed students showed cognitive and motivational deficits as well as dysphoric mood in helpless conditions. Helpless androgynous students…

Baucom, Donald H.; Danker-Brown, Pamela

1979-01-01

58

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. PMID:22303467

Liu, Yi; Semina, Elena V.

2012-01-01

59

Brain imaging in normal and abnormal brain development: new perspectives for child psychiatry  

Microsoft Academic Search

Non-invasive brain imaging permits the study of normal and abnormal brain development in childhood and adolescence. This paper summarizes current knowledge of brain development for healthy adolescents and for patients with childhood-onset schizophrenia (COS), a rare form of the disorder. The implications of these findings are explored. Cross-sectional and longitudinal brain magnetic resonance imaging (MRI) studies are reviewed. The pattern

Nitin Gogate; Jay Giedd; Kristin Janson; Judith L. Rapoport

2001-01-01

60

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

PubMed Central

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

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

2014-01-01

61

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

62

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

63

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...

64

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

ERIC Educational Resources Information Center

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

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

2004-01-01

65

Testing Descriptive Hypotheses Regarding Sex Differences in the Development of Conduct Problems and Delinquency  

Microsoft Academic Search

Accurate descriptions of sex differences in the development of childhood conduct problems and adolescent delinquency will inform theories of their causes in fundamentally important ways. Using data on 4,572 offspring of a national sample of women, we tested descriptive hypotheses regarding sex differences. As predicted, the magnitude of sex differences varied with age, suggesting that multiple processes differentially influence levels

Benjamin B. Lahey; Carol A. Van Hulle; Irwin D. Waldman; Joseph Lee Rodgers; Brian M. D’Onofrio; Steven Pedlow; Paul Rathouz; Kate Keenan

2006-01-01

66

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

E-print Network

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

de Vries, Geert J.

67

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

Microsoft Academic Search

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

Samuel Juni; Eileen Lazaroff Rahamim; Robert Brannon

1985-01-01

68

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

PubMed Central

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

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

2007-01-01

69

A mechanical model predicts morphological abnormalities in the developing human brain  

NASA Astrophysics Data System (ADS)

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

Budday, Silvia; Raybaud, Charles; Kuhl, Ellen

2014-07-01

70

Journal of Abnormal Psychology  

Microsoft Academic Search

This article is reprinted from the Journal of Abnormal Psychology, 1965, 70, 1. The Journal of Abnormal Psychology will give priority to articles on problems related to abnormal behavior, broadly defined. The Journal's interests thus include the following: (a) psychopathology--its development or acquisition, its treatment or remission, and its symptomatology and course; (b) normal processes in abnormal individuals; (c) pathological

Howard F. Hunt; William N. Thetford

1965-01-01

71

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

E-print Network

A THEORETICAL APPROACH FOR ASSESSING THE ROLE OF ROCK AND FLUID PROPERTIES IN THE DEVELOPMENT OF ABNORMAL FLUID PRESSURES A Thesis by THOMAS WORCESTER HASTINGS Submitted to the Graduate College of Texas ASM University in partial fulfillment... of the requirement for the degree of MASTER OF SCIENCE December 1985 Major Subject: Geology A THEORETICAL APPROACH FOR ASSESSING THE ROLE OF ROCK AND FLUID PROPERTIES IN THE DEVELOPMENT OF ABNORMAL FLUID PRESSURES A Thesis by THOMAS MORCESTER HASTINGS...

Hastings, Thomas Worcester

2012-06-07

72

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.

73

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. PMID:20046825

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

2009-01-01

74

Development and Validation of the Attitudes Toward Same-Sex Marriage Scale  

Microsoft Academic Search

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,

Marcia L. Pearl; M. Paz Galupo

2007-01-01

75

Selenoprotein N deficiency in mice is associated with abnormal lung development  

PubMed Central

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

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

2013-01-01

76

Unbiased Identification of Patients with Disorders of Sex Development  

PubMed Central

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

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

2014-01-01

77

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

PubMed Central

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

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

2014-01-01

78

The Development of Girls' Sex-Role Attitudes.  

ERIC Educational Resources Information Center

Investigates girls' perceptions of the adult female role, and the relative impacts of maternal variables, societal stereotypes, and age upon girls' sex-role concepts. Subjects were 150 girls, ages 6-8 and 10-12, from working-class families in rural Ohio. (Author/SS)

Meyer, Buf

1980-01-01

79

Male Psychosexual Development: Role of Sibling Sex and Ordinal Position  

ERIC Educational Resources Information Center

The present study was designed to investigate the hypothesis that in two-sibling families the presence of an older sister is related to the younger brother's subsequent sexual behavior, sexual interests, attitudes, and problems as measured by a self-report sex questionnaire. (Authors)

Kahn, Michael H.; And Others

1972-01-01

80

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

81

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

82

The Relationship of Sex Role Identity to Ego Development and Self Esteem in Adolescence.  

ERIC Educational Resources Information Center

It has been predicted that, if an androgynous identity represents a higher level of psychosocial functioning, there should be a significant relationship between androgynous sex role identity and high self-esteem. To test this hypothesis, 139 male and female high school seniors completed the Sentence Completion Test of Ego Development, the Bem Sex

Hurtig, Anita Landau; Petersen, Anne C.

83

Sex Education: A Source for Promoting Character Development in Young People with Physical Disabilities  

Microsoft Academic Search

It is maintained that the provision of a well-balanced comprehensive sex education for a physically disabled child is an essential part of his or her character formation especially in promoting interpersonal relations and self-assurance. It is further maintained that while knowledge of biological sex is an integral facet of this education, it is also vital for these children to develop

Graham V. Guest

2000-01-01

84

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

85

Normal and abnormal development of the aortic wall and valve: correlation with clinical entities.  

PubMed

Dilation of the wall of the thoracic aorta can be found in patients with a tricuspid (TAV) as well as a bicuspid aortic valve (BAV) with and without a syndromic component. BAV is the most common congenital cardiovascular malformation, with a population prevalence of 0.5-2 %. The clinical course is often characterised by aneurysm formation and in some cases dissection. The non-dilated aortic wall is less well differentiated in all BAV as compared with TAV, thereby conferring inherent developmental susceptibility. Furthermore, a turbulent flow, caused by the inappropriate opening of the bicuspid valve, could accelerate the degenerative process in the aortic wall. However, not all patients with bicuspidy develop clinical complications during their life. We postulate that the increased vulnerability for aortic complications in a subset of patients with BAV is caused by a defect in the early development of the aorta and aortic valve. This review discusses histological and molecular genetic aspects of the normal and abnormal development of the aortic wall and semilunar valves. Aortopathy associated with BAV could be the result of a shared developmental defect during embryogenesis. PMID:25074475

Grewal, N; DeRuiter, M C; Jongbloed, M R M; Goumans, M J; Klautz, R J M; Poelmann, R E; Gittenberger-de Groot, A C

2014-09-01

86

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

PubMed

Although fathead minnows (Pimephales promelas) are commonly used as a model fish in endocrine disruption studies, past studies have not characterized sex-specific baseline expression of genes involved in sex differentiation during development in this species. Using a sex-linked DNA marker to verify gender, we evaluated the expression over time of genes involved in sex differentiation (dmrt1, cyp19a, cyp17, star, esr1, ar) in developing fathead minnows (10-45 days post hatch). Evaluation of these molecular markers in combination with gender identification help us to better understand the mechanisms regulating sex differentiation in fathead minnows and how endocrine-disrupting chemicals may alter these processes. PMID:23948860

Leet, J K; Lesteberg, K E; Schoenfuss, H L; Olmstead, A W; Amberg, J J; Ankley, G T; Sepúlveda, M S

2013-01-01

87

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

Microsoft Academic Search

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

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

1996-01-01

88

Normal and Abnormal Development of the Intrapericardial Arterial Trunks in Man and Mouse  

PubMed Central

Aims The definitive cardiac outflow channels have three components: the intrapericardial arterial trunks; the arterial roots with valves; and the ventricular outflow tracts. We studied the normal and abnormal development of the most distal of these, the arterial trunks, comparing findings in mouse and man. Methods and Results Using lineage tracing and three-dimensional visualization by episcopic reconstruction and scanning electron microscopy, we studied embryonic day 9.5 to 12.5 mouse hearts, clarifying the development of the outflow tracts distal to the primordia of the arterial valves. We characterize a transient aortopulmonary foramen, located between the leading edge of a protrusion from the dorsal wall of the aortic sac and the distal margins of the two outflow cushions. The foramen is closed by fusion of the protrusion, with its cap of neural crest cells, with the neural crest cell-filled cushions; the resulting structure then functioning transiently as an aortopulmonary septum. Only subsequent to this closure is it possible to recognize, more proximally, the previously described aortopulmonary septal complex. The adjacent walls of the intrapericardial trunks are derived from the protrusion and distal parts of the outflow cushions, while the lateral walls are formed from intrapericardial extensions of pharyngeal mesenchyme derived from the second heart field. Conclusions We provide, for the first time, objective evidence of the mechanisms of closure of an aortopulmonary foramen that exists distally between the lumens of the developing intrapericardial arterial trunks. Our findings provide insights into the formation of aortopulmonary windows and the variants of common arterial trunk. PMID:22499773

Anderson, Robert H.; Chaudhry, Bill; Mohun, Timothy J.; Bamforth, Simon D.; Hoyland, Darren; Phillips, Helen M.; Webb, Sandra; Moorman, Antoon F.J.; Brown, Nigel A.; Henderson, Deborah J.

2014-01-01

89

Abnormal cerebellar development and Purkinje cell defects in Lgl1-Pax2 conditional knockout mice.  

PubMed

Lgl1 was initially identified as a tumour suppressor in flies and is characterised as a key regulator of epithelial polarity and asymmetric cell division. A previous study indicated that More-Cre-mediated Lgl1 knockout mice exhibited significant brain dysplasia and died within 24h after birth. To overcome early neonatal lethality, we generated Lgl1 conditional knockout mice mediated by Pax2-Cre, which is expressed in almost all cells in the cerebellum, and we examined the functions of Lgl1 in the cerebellum. Impaired motor coordination was detected in the mutant mice. Consistent with this abnormal behaviour, homozygous mice possessed a smaller cerebellum with fewer lobes, reduced granule precursor cell (GPC) proliferation, decreased Purkinje cell (PC) quantity and dendritic dysplasia. Loss of Lgl1 in the cerebellum led to hyperproliferation and impaired differentiation of neural progenitors in ventricular zone. Based on the TUNEL assay, we observed increased apoptosis in the cerebellum of mutant mice. We proposed that impaired differentiation and increased apoptosis may contribute to decreased PC quantity. To clarify the effect of Lgl1 on cerebellar granule cells, we used Math1-Cre to specifically delete Lgl1 in granule cells. Interestingly, the Lgl1-Math1 conditional knockout mice exhibited normal proliferation of GPCs and cerebellar development. Thus, we speculated that the reduction in the proliferation of GPCs in Lgl1-Pax2 conditional knockout mice may be secondary to the decreased number of PCs, which secrete the mitogenic factor Sonic hedgehog to regulate GPC proliferation. Taken together, these findings suggest that Lgl1 plays a key role in cerebellar development and folia formation by regulating the development of PCs. PMID:25050931

Hou, Congzhe; Ding, Lingcui; Zhang, Jian; Jin, Yecheng; Sun, Chen; Li, Zhenzu; Sun, Xiaoyang; Zhang, Tingting; Zhang, Aizhen; Li, Huashun; Gao, Jiangang

2014-11-01

90

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

ERIC Educational Resources Information Center

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

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

2009-01-01

91

Sex role orientation, level of cognitive development and mathematics performance in late adolescence.  

PubMed

Sex differences in mathematics performance are found in late adolescence. This study investigates the effects of psychological sex role orientation (BSRI: masculine, feminine, undifferentiated, androgynous) and level of cognitive development (concrete, formal) on performance in mathematics. ANOVA analysis (N = 69; 18 males, 51 females) revealed significant effects for level of cognitive development and for masculine by feminine sex role orientation interaction. Subjects whose BSRI masculine and feminine scores were either both low or both high scored significantly lower on the mathematics test than subjects whose scores on either masculine or feminine scales were high. This indicates lower mathematics performance for androgynous and undifferentiated subjects. This result is hypothesized to be a function of the particular age level of these subjects and their concomitant overconcern with appropriate sex role development. PMID:3812067

Plake, B S; Kaplan, B J; Steinbrunn, J

1986-01-01

92

Development of early postnatal peripheral nerve abnormalities in Trembler-J and PMP22 transgenic mice  

PubMed Central

Mutations in the gene for peripheral myelin protein 22 (PMP22) are associated with peripheral neuropathy in mice and humans. Although PMP22 is strongly expressed in peripheral nerves and is localised largely to the myelin sheath, a dual role has been suggested as 2 differentially expressed promoters have been found. In this study we compared the initial stages of postnatal development in transgenic mouse models which have, in addition to the murine pmp22 gene, 7 (C22) and 4 (C61) copies of the human PMP22 gene and in homozygous and heterozygous Trembler-J (TrJ) mice, which have a point mutation in the pmp22 gene. The number of axons that were singly ensheathed by Schwann cells was the same in all groups indicating that PMP22 does not function in the initial ensheathment and separation of axons. At both P4 and P12 all mutants had an increased proportion of fibres that were incompletely surrounded by Schwann cell cytoplasm indicating that this step is disrupted in PMP22 mutants. C22 and homozygous TrJ animals could be distinguished by differences in the Schwann cell morphology at the initiation of myelination. In homozygous TrJ animals the Schwann cell cytoplasm had failed to make a full turn around the axon whereas in the C22 strain most fibres had formed a mesaxon. It is concluded that PMP22 functions in the initiation of myelination and probably involves the ensheathment of the axon by the Schwann cell, and the extension of this cell along the axon. Abnormalities may result from a failure of differentiation but more probably from defective interactions between the axon and the Schwann cell. PMID:10580849

ROBERTSON, A. M.; HUXLEY, C.; KING, R. H. M.; THOMAS, P. K.

1999-01-01

93

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

94

The transcription co-factor CITED2 functions during sex determination and early gonad development.  

PubMed

The early bi-potential mammalian gonad requires the expression of a Y-linked gene, Sry, during a brief window of time to ensure proper testis development. WT1 and its direct target gene Sf1 function during sex determination as well as in the specified testes and ovaries. We have previously shown that the transcription co-factor CITED2 interacts with WT1 to stimulate the expression of Sf1 in the adrenogonadal primordium to ensure adrenal development. We now show through genetic interactions and expression analyses that Cited2 acts in the gonad with Wt1 and Sf1 to increase the expression of Sry levels to attain a critical threshold to efficiently initiate testis development. Reducing the gene dosage of Wt1 or Sf1 in Cited2 mutant gonads was sufficient to produce partial XY sex reversal while full sex reversal was attained in mutants containing a hypomorphic Sry(POS) allele. A direct correlation was observed between XY sex reversal and reduced expression levels of Sry and Sf1 during sex determination, which indicated that Sry is a downstream target of the CITED2/WT1/SF1 regulatory pathway. Our results provide in vivo evidence for the identification of the first transcription co-factor to function during mammalian sex determination, as part of the WT1/SF1 regulatory mechanism. This highlights the gene dosage sensitivity of the pathway's effect on Sry levels and embryonic gonad development. PMID:19457926

Buaas, Frank William; Val, Pierre; Swain, Amanda

2009-08-15

95

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. PMID:23516551

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

2013-01-01

96

Sex role orientation and its relationship to the development of identity and moral thought.  

PubMed

This paper examined the links among sex role orientation, ego identity development and moral reasoning. 76 female and 58 male students were assessed on Bem's sex role inventory, ego identity, care-based and justice-based moral thought. For women, identity was negatively related to femininity and positively related to androgyny. Also, high levels of care-based moral reasoning, i.e., a balanced concern for the welfare of self and others, was related to androgyny for women. There were no significant findings for men. No significant relationships were found between sex role orientation and justice-based moral reasoning. Thus, the results suggested that for women in particular, relinquishing the stereotyped sex role definition and becoming more androgynous is important for their ego identity as well as care-based moral development. PMID:7481596

Skoe, E E

1995-09-01

97

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

98

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

Microsoft Academic Search

The late 1960s through the 1970s marked an important turning point in the field of gender research, including theory and research\\u000a in gender development. The establishment of Sex Roles in 1975 as a forum for this research represented an important milestone in the field. In this article, we celebrate the 35th\\u000a anniversary of Sex Roles and, in particular, its contributions

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

2011-01-01

99

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

NASA Astrophysics Data System (ADS)

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: a purely regulatory approach, or 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.

1993-09-01

100

Abnormal Hippocampal Development in Children with Medulloblastoma Treated with Risk-Adapted Irradiation  

Microsoft Academic Search

BACKGROUND AND PURPOSE: Children with medulloblastoma demonstrate post-treat- ment neurocognitive deficits in a number of areas, including memory performance. However, there is no definitive understanding of the neuropathology underlying these functional deficits. Previous literature has reported that hippocampal integrity is crucial to the acquisition of new episodic memories. Therefore, we hypothesized that longitudinal hippocampal volume mea- surements are abnormal in

Bonnie J. Nagel; Shawna L. Palmer; Wilburn E. Reddick; John O. Glass; Kathleen J. Helton; Shengjie Wu; Xiaoping Xiong; Larry E. Kun; Amar Gajjar; Raymond K. Mulhern

2004-01-01

101

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

PubMed Central

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

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

2013-01-01

102

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

PubMed Central

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

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

2014-01-01

103

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

PubMed

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

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

2014-12-01

104

Abnormalities in cartilage and bone development in the Apert syndrome FGFR2+\\/S252W mouse  

Microsoft Academic Search

Apert syndrome is an autosomal dominant disorder characterized by malformations of the skull, limbs and viscera. Two-thirds of affected individuals have a S252W mutation in fibroblast growth factor receptor 2 (FGFR2). To study the pathogenesis of this condition, we generated a knock-in mouse model with this mutation. The Fgfr2 +\\/S252W mutant mice have abnormalities of the skeleton, as well as

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

2005-01-01

105

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

E-print Network

Steroid receptor coactivator-1 (SRC-1) mediates the development of sex-specific brain morphology March 1, 2000) Steroid hormone action during brain development exerts profound effects on reproductive physiology and behavior that last into adulthood. A variety of in vitro studies indicate that steroid

106

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.

107

Possible Sex Differences in the Developing Human Fetal Brain  

Microsoft Academic Search

Left-right regional volumetric asymmetries in five telencephalic regions were studied in the developing human fetal brain. Complete series of coronal sections of 21 fetal brains were digitized and regional volumes were integrated. Five regional indices of asymmetry and two overall indices of asymmetry were calculated and compared across the fetal sample. The two most asymmetrical regions in the developing fetal

M. C. De Lacoste; D. S. Horvath; D. J. Woodward

1991-01-01

108

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. PMID:21747580

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

2011-01-01

109

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

E-print Network

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

Clark, Peggy Love

2012-06-07

110

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

PubMed Central

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

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

2014-01-01

111

The Influence of Sex and Fly Species on the Development of Trypanosomes in Tsetse Flies  

PubMed Central

Unlike other dipteran disease vectors, tsetse flies of both sexes feed on blood and transmit pathogenic African trypanosomes. During transmission, Trypanosoma brucei undergoes a complex cycle of proliferation and development inside the tsetse vector, culminating in production of infective forms in the saliva. The insect manifests robust immune defences throughout the alimentary tract, which eliminate many trypanosome infections. Previous work has shown that fly sex influences susceptibility to trypanosome infection as males show higher rates of salivary gland (SG) infection with T. brucei than females. To investigate sex-linked differences in the progression of infection, we compared midgut (MG), proventriculus, foregut and SG infections in male and female Glossina morsitans morsitans. Initially, infections developed in the same way in both sexes: no difference was observed in numbers of MG or proventriculus infections, or in the number and type of developmental forms produced. Female flies tended to produce foregut migratory forms later than males, but this had no detectable impact on the number of SG infections. The sex difference was not apparent until the final stage of SG invasion and colonisation, showing that the SG environment differs between male and female flies. Comparison of G. m. morsitans with G. pallidipes showed a similar, though less pronounced, sex difference in susceptibility, but additionally revealed very different levels of trypanosome resistance in the MG and SG. While G. pallidipes was more refractory to MG infection, a very high proportion of MG infections led to SG infection in both sexes. It appears that the two fly species use different strategies to block trypanosome infection: G. pallidipes heavily defends against initial establishment in the MG, while G. m. morsitans has additional measures to prevent trypanosomes colonising the SG, particularly in female flies. We conclude that the tsetse-trypanosome interface works differently in G. m. morsitans and G. pallidipes. PMID:22348165

Peacock, Lori; Ferris, Vanessa; Bailey, Mick; Gibson, Wendy

2012-01-01

112

Sex-dependent cytoskeletal changes of the human hypothalamus develop independently of Alzheimer's disease.  

PubMed

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 and the female subjects exhibited either particularly mild (stage I) or fully developed (stage V) AD-related neurofibrillary brain pathology. Serial 100-micron hypothalamic sections were cut in the frontal plane and stained for hyperphosphorylated tau protein using the monoclonal antibody AT8. Argyrophilic neurofibrillary pathology was demonstrated using a modified Gallyas silver-iodide technique. A conspicuous pathology, characterized by neurofibrillary tangles, a network of dystrophic neurites, and terminal-like vessel-associated processes, was identified in the infundibular nucleus which is located in the mediobasal tuber cinereum. This pathology was noted in 20 males (64.5%), but did not occur in the female group. No statistically significant correlation was noted between the degree of sex-dependent pathology and the presence of AD-related cortical pathology. In particular, the expression of the sex-dependent changes did not differ between males with AD stage I and males with AD stage V. In summary, the existence of a sex-dependent variant of neurofibrillary pathology was confirmed. In addition, our findings strongly suggest that the sex-dependent changes develop independently of the neurofibrillary changes associated with senile dementia of the Alzheimer type. Instead, the sex-dependent hypothalamic pathology probably corresponds to a distinct neurodegenerative entity preferentially affecting elderly males. PMID:10630203

Schultz, C; Ghebremedhin, E; Braak, E; Braak, H

1999-11-01

113

Individual differences in moral development: the relation of sex, gender, and personality to morality.  

PubMed

Individual differences in moral development are examined, with a particular emphasis on sex and gender differences. This examination includes an extensive review of the empirical and theoretical literature in psychology on morality. Based on this review, it is concluded that sex differences occur with less frequency and with a less systematic favoring of males than is predicted by several theories of moral development. In addition, a study is presented which considers the relation of sex, gender, and personality to morality. Two age cohort samples, college sophomores (n = 169) and adults (n = 151), were assessed with the moral judgment scale of the cognitive-developmental model (Kohlberg, 1984) and a newly developed moral character template of the personological model (Lifton, in press). Participants also completed the CPI and MMPI personality inventories. Results of the study indicate (1) the absence of sex differences for either model, (2) the presence of gender differences favoring masculine persons for the cognitive-developmental but not personological model, and (3) that individual differences in moral development parallel individual differences in personality development. The implications of these findings are discussed with regard to Gilligan's (1982) claim that men and women differ in their moral orientations. Finally, it is argued that an individual difference approach, particularly one that emphasizes personality, would prove useful for future research on moral development. PMID:4045680

Lifton, P D

1985-06-01

114

Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development.  

PubMed

Mutations in Patched (PTCH), encoding the Hedgehog (Hh) receptor, underlie Basal Cell Naevus syndrome (BCNS) and, in addition to tumor predisposition, are associated with a wide range of 'patterning' defects. The basis for the underlying patterning problems in Hh-dependent tissues in BCNS and their long-term consequences on tissue homeostasis are, however, not known. Hh signaling is required for normal growth and organization of the mammalian retina and we show that PtchlacZ+/- mice exhibit vitreoretinal abnormalities resembling those found in BCNS patients. The retinas of PtchlacZ+/- mice exhibit abnormal cell cycle regulation, which culminates in photoreceptor dysplasia and Müller cell-derived gliosis. In BCNS, the intraretinal glial response results in epiretinal membrane (ERM) formation, a proliferative and contractile response on the retinal surface. ERMs are a cause of significant visual loss in the general, especially elderly, population. We hypothesize that alteration of Müller cell Hh signaling may play a role in the pathogenesis of such age-related 'idiopathic' ERMs. PMID:14570707

Black, Graeme C M; Mazerolle, Chantal J; Wang, Yaping; Campsall, Katrina D; Petrin, Dino; Leonard, Brian C; Damji, Karim F; Evans, D Gareth; McLeod, David; Wallace, Valerie A

2003-12-15

115

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

Microsoft Academic Search

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

SYLVAIN C. BOIES; GAIL KNUDSON; JULIAN YOUNG

2004-01-01

116

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

ERIC Educational Resources Information Center

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

Fox Valley Technical Coll., Appleton, WI.

117

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

PubMed Central

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

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

2013-01-01

118

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

119

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

120

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

Microsoft Academic Search

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

Candice Feiring

1999-01-01

121

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

122

Early childhood sexual development and sex education: A survey of attitudes of nursery school teachers  

Microsoft Academic Search

This paper describes a research study which aimed to investigate preschool teachers' attitudes and beliefs on certain matters of sexual development and sex education in early years. A questionnaire with closed and open questions was answered by 284 experienced nursery school teachers in Greece, working with children 3+ to 5+ years of age. Answers to closed questions were elaborated by

Alexandros Kakavoulis

1998-01-01

123

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

124

The Effects of Early Parental Divorce on the Sex Role Development of College Students.  

ERIC Educational Resources Information Center

Examined the long-term effects of early parental divorce on sex role development in 219 college students. No significant differences were found between subjects from intact and divorced parents. However, children's age at the time of divorce, siblings, and post-divorce parental conflict were mediating factors. (JAC)

Vess, James D.; And Others

1983-01-01

125

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

E-print Network

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

126

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

Microsoft Academic Search

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)

Birger Scholz; Kim Kultima; Anna Mattsson; Jeanette Axelsson; Björn Brunström; Krister Halldin; Michael Stigson; Lennart Dencker

2006-01-01

127

Development of a sex education programme for 12?year?old to 14?year?old Turkish adolescents  

Microsoft Academic Search

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 contemporary sex education programme for 12?year?old to 14?year?old adolescents, entitled

Figen Cok; Lizbeth Ann Gray

2007-01-01

128

Why Good Job Performance May (Not) Be Rewarded: Sex Factors and Career Development  

ERIC Educational Resources Information Center

Tested effects of three sex variables on managerial career evaluations. The variables were sex of evaluator, sex of manager, and predominate sex of manager's subordinates. Subjects evaluated four managers, in an "in basket" format. Manager's sex and predominate subordinate sex frequently interacted. (Author)

Rose, Gerald L.; Stone, Thomas H.

1978-01-01

129

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

PubMed

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

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

2013-06-01

130

Cardiac development and physiology are modulated by FGF2 in an isoform- and sex-specific manner  

PubMed Central

The low-molecular-weight isoform (Lo) of fibroblast growth factor 2 (FGF2) has distinct functions from the high-molecular-weight isoforms (Hi) of FGF2 in the adult stressed heart. However, the specific roles of these isoforms in the unstressed heart were not examined. We investigated whether the FGF2 isoforms modulate cardiac development and physiology in isoform- and sex-specific manners. Young adult male and female mice that were deficient in either Hi FGF2 (Hi KO) or Lo FGF2 (Lo KO) underwent echocardiographic analysis and were compared to their wild-type (WT) counterparts. By comparison to WT cohorts, female Lo KO hearts display a 33% larger left ventricular (LV) volume and smaller LV mass and wall thickness. Mitral valve flow measurements from these hearts reveal that the early wave to atrial wave ratio (E/A) is higher, the deceleration time is 30% shorter and the mitral valve E-A velocity–time integral is reduced by 20% which is consistent with a restrictive filling pattern. The female Hi KO hearts do not demonstrate any significant abnormality. In male Hi KO mice the cardiac output from the LV is 33% greater and the fractional shortening is 29% greater, indicating enhanced systolic function, while in male Lo KO hearts we observe a smaller E/A ratio and a prolonged isovolumic relaxation time, consistent with an impaired relaxation filling pattern. We conclude that the developmental and physiological functions of FGF2 isoforms in the unstressed heart are isoform specific and nonredundant and that these roles are modulated by sex. PMID:24244870

Nusayr, Eyad; Doetschman, Tom

2013-01-01

131

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

PubMed Central

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

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

2014-01-01

132

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

PubMed Central

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 modeling results indicated that youth who reported being more advanced in their pubertal development reported high levels of femininity and anxiety symptoms. Youth who reported high levels of masculinity had low levels of anxiety symptoms as reported by both youths and parents. The estimated effects of pubertal development, femininity, and masculinity on youth and parent ratings of youth anxiety symptoms were not significantly moderated by biological sex. Pubertal development and gender role orientation appear to be important in explaining levels of youth anxiety symptoms among clinic referred anxious youth. PMID:21916691

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

2011-01-01

133

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

PubMed Central

Myeloid and lymphoid malignancies associated with FGFR1 abnormalities are characterized by constitutive activated FGFR1 kinase and rapid transformation to acute myeloid leukemia and lymphoblastic lymphoma. Molecular targeted therapies have not been widely used for SCLL. Ponatinib (AP24534), that potently inhibits native and mutant BCR-ABL, also targets the fibroblast growth factor receptor (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, Mingqiang; Qin, Haiyan; Ren, Ruizhe; Cowell, John K.

2012-01-01

134

Mice lacking FABP9/PERF15 develop sperm head abnormalities but are fertile  

PubMed Central

The male germ cell-specific fatty acid binding protein 9 (FABP9/PERF15) is the major component of the murine sperm perforatorium and perinuclear theca. Based on its cytoskeletal association and sequence homology to myelin P2 (FABP8), it has been suggested that FABP9 tethers sperm membranes to the underlying cytoskeleton. Furthermore, its upregulation in apoptotic testicular germ cells and its increased phosphorylation status during capacitation suggested multiple important functions for FABP9. Therefore, we investigated specific functions for FABP9 by means of targeted gene disruption in mice. FABP9?/? mice were viable and fertile. Phenotypic analysis showed that FABP9?/? mice had significant increases in sperm head abnormalities (~8% greater than their WT cohorts); in particular, we observed the reduction or absence of the characteristic structural element known as the “ventral spur” in ~10% of FABP9?/? sperm. However, deficiency of FABP9 neither affected membrane tethering to the perinuclear theca nor the fatty acid composition of sperm. Moreover, epididymal sperm numbers were not affected in FABP9?/? mice. Therefore, we conclude that FABP9 plays only a minor role in providing the murine sperm head its characteristic shape and is not absolutely required for spermatogenesis or sperm function. PMID:20920498

Selvaraj, Vimal; Asano, Atsushi; Page, Jennifer L.; Nelson, Jacquelyn L.; Kothapalli, Kumar S. D.; Foster, James A.; Brenna, J. Thomas; Weiss, Robert S.; Travis, Alexander J.

2010-01-01

135

Ethical Principles for the Management of Infants with Disorders of Sex Development  

Microsoft Academic Search

The Fifth World Congress on Family Law and Children’s Rights (Halifax, August 2009) adopted a resolution endorsing a new set of ethical guidelines for the management of infants and children with disorders of sex development (DSD) [www.lawrights.asn.au\\/index.php?option=com_content&view=article&id=76&Itemid=109]. The ethical principles developed by our group were the basis for the Halifax Resolution. In this paper, we outline these principles and explain

Lynn H. Gillam; Jacqueline K. Hewitt; Garry L. Warne

2010-01-01

136

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

137

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

PubMed Central

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

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

2013-01-01

138

Psychological aspects of the treatment of patients with disorders of sex development.  

PubMed

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

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

2012-10-01

139

Chromosomal abnormalities  

SciTech Connect

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

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

1980-09-01

140

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

141

Sex hormone replacement in Turner syndrome.  

PubMed

The cardinal features of Turner syndrome (TS) are short stature, congenital abnormalities, infertility due to gonadal dysgenesis, with sex hormone insufficiency ensuing from premature ovarian failure, which is involved in lack of proper development of secondary sex characteristics and the frequent osteoporosis seen in Turner syndrome. But sex hormone insufficiency is also involved in the increased cardiovascular risk, state of physical fitness, insulin resistance, body composition, and may play a role in the increased incidence of autoimmunity. Severe morbidity and mortality affects females with Turner syndrome. Recent research emphasizes the need for proper sex hormone replacement therapy (HRT) during the entire lifespan of females with TS and new hypotheses concerning estrogen receptors, genetics and the timing of HRT offers valuable new information. In this review, we will discuss the effects of estrogen and androgen insufficiency as well as the effects of sex HRT on morbidity and mortality with special emphasis on evidence based research and areas needing further studies. PMID:22147393

Trolle, Christian; Hjerrild, Britta; Cleemann, Line; Mortensen, Kristian H; Gravholt, Claus H

2012-04-01

142

Isolation of the human testatin gene and analysis in patients with abnormal gonadal development  

Microsoft Academic Search

We have previously isolated the testatin gene using a modified mRNA differential display method on RNA from developing male and female mouse gonads. This gene is specifically expressed during early testis development, immediately after the onset of the testis-determining gene Sry. The protein encoded by testatin has features that are characteristic for type 2 cystatins, a family of small inhibitors

Annika Eriksson; Virpi Tohonen; Anna Wedell; Katarina Nordqvist

2002-01-01

143

Psychological Distress, Self-Harming Behavior, and Suicidal Tendencies in Adults with Disorders of Sex Development  

Microsoft Academic Search

Evaluation of psychological distress has received relatively little attention in research on persons with disorders of sex\\u000a development (DSD). Results of previous studies varied considerably, but most studies did not find increased levels of psychological\\u000a distress. We conducted a pilot study based on a sample of 37 persons with diverse forms of DSD recruited via various strategies.\\u000a The Brief Symptom

Karsten Schützmann; Lisa Brinkmann; Melanie Schacht; Hertha Richter-Appelt

2009-01-01

144

Sex-biased gene expression in the developing brain: implications for autism spectrum disorders  

E-print Network

, dysregulation, and interaction with autism candidate genes in the developing brain, in addition to those of other neurodevelopmental and psychiatric dis- orders with sex-biased incidence. Additional file Additional file 1: Supplementary data tables. Table S1... Plaza, Houston, TX 77030, USA. Received: 5 September 2012 Accepted: 16 April 2013 Published: 7 May 2013 References 1. Centers for Disease Control and Prevention: Prevalence of autism spectrum disorders – autism and developmental disabilities monitoring...

Ziats, Mark N; Rennert, Owen M

2013-05-07

145

Promotion as Prevention: Positive Youth Development as Protective against Tobacco, Alcohol, Illicit Drug, and Sex Initiation  

Microsoft Academic Search

The present study was designed to examine the association of positive youth development with the likelihood of tobacco, alcohol, marijuana, hard drug, and sex initiation between 5th and 10th grades. A national, largely middle-class sample of 5,305 adolescents, participating in a longitudinal study funded by the National 4-H Council (although not all participants were enrolled in 4-H or other after-school

Seth J. Schwartz; Erin Phelps; Jacqueline V. Lerner; Shi Huang; C. Hendricks Brown; Selva Lewin-Bizan; Yibing Li; Richard M. Lerner

2010-01-01

146

Sex Differences and the Impact of Steroid Hormones on the Developing Human Brain  

Microsoft Academic Search

Little is known about the hormonal effects of puberty on the anatomy of the developing human brain. In a voxel-based morphometry study, sex-related differences in gray matter (GM) volume were examined in 46 subjects aged 8--15 years. Males had larger GM volumes in the left amygdala, whereas females had larger right striatal and bilateral hippocampal GM volumes than males. Sexually

Susanne Neufang; Karsten Specht; Markus Hausmann

2009-01-01

147

A Meta-Analytic Review of Sex Differences in Facial Expression Processing and Their Development in Infants, Children, and Adolescents  

Microsoft Academic Search

Quantitative and qualitative reviews of the literature on sex differences in facial expression processing (FEP) have yielded conflicting findings regarding children. This study was designed to review quantitatively the literature on sex differences in FEP from infancy through adolescence and to evaluate consistency between the course of FEP development and predictions derived from preliminary theoretical models. Results, which indicate a

Erin B. McClure

2000-01-01

148

THE IMPACT OF COGNITIVE MATURITY ON THE DEVELOPMENT OF SEX-ROLE ATTITUDES IN THE YEARS 4 TO 8.  

ERIC Educational Resources Information Center

A SERIES OF STUDIES WAS CONDUCTED TO CLARIFY THE ROLE OF INTELLIGENCE IN PERSONALITY ORGANIZATION AND TO ASSESS A COGNITIVE-DEVELOPMENTAL INTERPRETATION OF IQ-PERSONALITY CORRELATIONS. THE SPECIFIC FOCUS OF THE STUDY WAS THE RELATIONSHIP OF INTELLECTUAL MATURITY TO THE DEVELOPMENT OF SEX-ROLE ATTITUDES. AGE-DEVELOPMENTAL TRENDS IN SEX-ROLE…

KOHLBERG, LAWRENCE; ZIGLER, EDWARD

149

Transgender Student­Athletes and Sex­Segregated Sport: Developing Policies of Inclusion for Intercollegiate and Interscholastic Athletics  

Microsoft Academic Search

This Article discusses the discrimination of transgender students who may be excluded, discouraged, or simply made to feel uncomfortable participating in athletic programs for their natal sex, by the sex-segregated world of athletics. The Author believes that until sports' governing bodies develop and enforce policies of inclusion, transgender students will continue to be denied access to and the benefits of

Erin E. Buzuvis

2011-01-01

150

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

Microsoft Academic Search

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

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

2010-01-01

151

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

ERIC Educational Resources Information Center

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

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

2012-01-01

152

Development of renal function abnormalities following bites by Russell's vipers (Daboia russelii siamensis) in Myanmar.  

PubMed

Renal function was monitored in 24 patients with systemic envenoming following proven Russell's viper bite. In all patients, blood clotted within 20 min on admission. In 15 cases severe defibrination (systemic envenoming) developed during the next 3-5 d. None of the patients received antivenom before admission but enzyme-refined monospecific antivenom was given to those who developed signs of systemic envenoming. Specific antigen was detected by enzyme immuno-assay in all 21 subjects tested. Nine patients whose renal function remained normal did not develop systemic envenoming, and recovered without any treatment even though venom antigen was detectable in their serum. Ten patients developed mild renal dysfunction and systemic envenoming, but recovered after treatment with antivenom alone. The remaining 5 patients, all of whom were oliguric from admission, developed acute renal failure despite treatment with antivenom, but some recovered after peritoneal dialysis. Serum venom antigen levels were high in the last 2 groups, but there was some overlap. Albuminuria, found only in patients who became systemically envenomed, was associated with high fractional sodium excretion in those who developed acute oliguric renal failure. Albuminuria may appear before a gross clotting defect is detectable. It is an indication for antivenom and spot measurements might prove a useful early predictor of outcome. PMID:1835190

Thein-Than; Tin-Tun; Hla-Pe; Phillips, R E; Myint-Lwin; Tin-Nu-Swe; Warrell, D A

1991-01-01

153

Annual Meeting Mini-Symposium Autism and Abnormal Development of Brain Connectivity  

E-print Network

Phenotype" in which characteristic cognitive traits are present subclinically (Dawson et al., 2002 It has been said that people with autism suffer from a lack of "central coherence," the cognitive ability and remediation of autism but can also provide a test case for theories of normal brain and cognitive development

Boulanger, Lisa

154

An Empirically Supported Reconceptualization of African-U.S. Racial Identity Development as an Abnormal Process  

Microsoft Academic Search

Transformational, developmental process theories of African-U.S. racial identity development are flawed because they conceptualize ontogenetic experience without embedding it in phylogenetic dictates. As a result, culminating psychological states are not depicting identity progression but actually mask a sophisticated regression to a \\

Daudi Ajani ya Azibo; Jeanene Robinson

2004-01-01

155

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. PMID:23271186

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

156

Neonatal Lethality, Dwarfism, and Abnormal Brain Development in Dmbx1 Mutant Mice  

Microsoft Academic Search

Dmbx1 encodes a paired-like homeodomain protein that is expressed in developing neural tissues during mouse embryogenesis. To elucidate the in vivo role of Dmbx1, we generated two Dmbx1 mutant alleles. Dmbx1 lacks the homeobox and Dmbx1z is an insertion of a lacZ reporter gene. Dmbx1z appears to be a faithful reporter of Dmbx1 expression during embryogenesis and after birth. Dmbx1-lacZ

Akihira Ohtoshi; Richard R. Behringer

2004-01-01

157

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

PubMed Central

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

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

2013-01-01

158

Self-Esteem, Parent Identification and Sex Role Development in Preschool Age Boys and Girls  

ERIC Educational Resources Information Center

Self esteem was shown to be associated more closely to high sex role orientation for boys and low sex role adoption for girls; while father identification, for boys only, was related to moderate levels of sex role orientation and sex role preference. Bibliography. (Author)

Flammer, Donald P.

1971-01-01

159

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

PubMed Central

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

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

2014-01-01

160

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

161

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

PubMed Central

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

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

2014-01-01

162

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

PubMed Central

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

Swierczynski, Julian; Hebanowska, Areta; Sledzinski, Tomasz

2014-01-01

163

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. PMID:22089618

Wajcman, Henri; Moradkhani, Kamran

2011-01-01

164

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

E-print Network

Sandra Bem's (1993) Enculturated Lens Theory provides a helpful model for beginning to understand the development and socialization of sex roles within cultures by emphasizing the importance of gender schemas and lenses of gender polarization...

Gripka, Abbey Alyssa Campbell

2014-08-31

165

Abnormal development of the neuromuscular junction in Nedd4-deficient mice  

PubMed Central

Nedd4 (neural precursor cell expressed developmentally down-regulated gene 4) is an E3 ubiquitin ligase highly conserved from yeast to humans. The expression of Nedd4 is developmentally down-regulated in the mammalian nervous system, but the role of Nedd4 in mammalian neural development remains poorly understood. Here we show that a null mutation of Nedd4 in mice leads to perinatal lethality: mutant mice were stillborn and many of them died in utero before birth (between E15.5–E18.5). In Nedd4 mutant embryos, skeletal muscle fiber sizes and motoneuron numbers are significantly reduced. Surviving motoneurons project axons to their target muscles on schedule, but motor nerves defasciculate upon reaching the muscle surface, suggesting that Nedd4 plays a critical role in fine-tuning the interaction between the nerve and the muscle. Electrophysiological analyses of the neuromuscular junction (NMJ) demonstrate an increased spontaneous miniature endplate potential (mEPP) frequency in Nedd4 mutants. However, the mutant neuromuscular synapses are less responsive to membrane depolarization, compared to the wildtypes. Ultrastructural analyses further reveal that the pre-synaptic nerve terminal branches at the NMJs of Nedd4 mutants are increased in number, but decreased in diameter compared to the wildtypes. These ultrastructural changes are consistent with functional alternation of the NMJs in Nedd4 mutants. Unexpectedly, Nedd4 is not expressed in motoneurons, but is highly expressed in skeletal muscles and Schwann cells. Together, these results demonstrate that Nedd4 is involved in regulating the formation and function of the NMJs through non-cell autonomous mechanisms. PMID:19345204

Liu, Yun; Oppenheim, Ronald W.; Sugiura, Yoshie; Lin, Weichun

2010-01-01

166

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

PubMed

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

Fazi, Amanda; Gobeski, Brianne; Foran, David

2014-11-01

167

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

PubMed Central

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

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

2013-01-01

168

Sex-dependent hypertension and renal changes in aged rats with altered renal development.  

PubMed

Numerous studies have evaluated blood pressure (BP) and renal changes in several models of developmental programming of hypertension. The present study examined to what extent BP, renal hemodynamic, and renal structure are affected at an old age in male and female animals with altered renal development. It also evaluated whether renal damage is associated with changes in cyclooxygenase (COX)-2 and neuronal nitric oxide synthase (NOS1) expression and immunoreactivity. Experiments were carried out in rats at 10-11 and 16-17 mo of age treated with vehicle or an ANG II type 1 receptor antagonist during the nephrogenic period (ARAnp). A progressive increment in BP and a deterioration of renal hemodynamics were found in both sexes of ARAnp-treated rats, with these changes being greater (P < 0.05) in male rats. The decrease in glomerular filtration rate at the oldest age was greater (P < 0.05) in male (74%) than female (32%) ARAnp-treated rats. Sex-dependent deterioration of renal structure was demonstrated in optical and electron microscopic experiments. COX-2 and NOS1 immunoreactivity were enhanced in the macula densa of male but not female ARAnp-treated rats. The present study reports novel findings suggesting that stimuli that induce a decrease of ANG II effects during renal development lead to a progressive increment in BP and renal damage at an old age in both sexes, but these BP and renal changes are greater in males than in females. The renal damage is associated with an increase of COX-2 and NOS1 in the macula densa of males but not females with altered renal development. PMID:24944267

Saez, Fara; Reverte, Virginia; Paliege, Alexander; Moreno, Juan Manuel; Llinás, María T; Bachmann, Sebastian; Salazar, F Javier

2014-08-15

169

Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain  

PubMed Central

Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder that affects growth properties of neural-crest-derived cell populations. In addition, approximately one-half of NF1 patients exhibit learning disabilities. To characterize NF1 function both in vitro and in vivo, we circumvent the embryonic lethality of NF1 null mouse embryos by generating a conditional mutation in the NF1 gene using Cre/loxP technology. Introduction of a Synapsin I promoter driven Cre transgenic mouse strain into the conditional NF1 background has ablated NF1 function in most differentiated neuronal populations. These mice have abnormal development of the cerebral cortex, which suggests that NF1 has an indispensable role in this aspect of CNS development. Furthermore, although they are tumor free, these mice display extensive astrogliosis in the absence of conspicuous neurodegeneration or microgliosis. These results indicate that NF1-deficient neurons are capable of inducing reactive astrogliosis via a non-cell autonomous mechanism. PMID:11297510

Zhu, Yuan; Romero, Mario I.; Ghosh, Pritam; Ye, Zhengyi; Charnay, Patrick; Rushing, Elizabeth J.; Marth, Jamey D.; Parada, Luis F.

2001-01-01

170

Late development of coronary artery abnormalities could be associated with persistence of non-fever symptoms in Kawasaki disease  

PubMed Central

Background Persistent fever after intravenous immunoglobulin (IVIG) is considered to be a major criterion of IVIG resistance in Kawasaki disease (KD), and a risk factor for the development of coronary artery abnormalities (CAA). However, the importance of persistent non-fever symptoms after defervescence has not yet been investigated. We examined the relationship between persistent non-fever symptoms and CAA in KD. Methods We conducted a retrospective cohort study of patients hospitalized with KD at the National Center for Child Health and Development between 1 April 2008 and 31 March 2009. Patients were divided into two groups; group A included patients who still had non-fever symptoms one month after onset of the illness and group B included patients who did not have persistent non-fever symptoms. Demographic, clinical variables were compared between the groups. Results Seventy-seven KD patients treated with IVIG were retrospectively analyzed. Patients were divided into two groups; group A included 12 (15.6%) patients and group B 65 (84.4%) patients. Demographic data, baseline laboratory data, and fever duration did not differ between the groups. In group A patients the most common persistent non-fever symptoms were lip erythema (n?=?6) and bulbar conjunctivitis (n?=?8). One month after onset of the illness CAA developed in seven of 77 patients (9.1%), four (33%) in group A and three (4.6%) in group B (odds ratio 10.3; 95% CI 1.9-54.8). Three patients in group A and one patient in group B developed CAA after the resolution of fever. Conclusions Persistence of non-fever symptoms after IVIG may suggest persistence of latent inflammation, which may increase the risk of CAA. Therefore, patients with persistent non-fever symptoms may be at risk of developing CAA, even after defervescence. A prospective trial of additional IVIG for such patients should be considered. PMID:23902667

2013-01-01

171

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

172

Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.  

PubMed

We report four patients with SRY-positive 46,XX testicular disorders of sex development (46,XX-TDSD) (cases 1-4). Case 1 exhibited underdeveloped external genitalia with hypospadias, case 2 manifested micropenis and cases 3 and 4 showed normal external genitalia. The Xp;Yp translocations occurred between the X- and the Y-differential regions in case 1, between PRKX and inverted PRKY in case 2 and between the X-chromosomal short arm pseudoautosomal region and the Y-differential regions in cases 3 and 4. The distance of the Yp breakpoint from SRY was ?0.75?Mb in case 1, ?6.5?Mb in case 2, ?2.3?Mb in case 3 and ?72?kb in case 4. The Xp;Yp translocation occurred within an 87-bp homologous segment of PRKX and PRKY in case 2, and between non-homologous regions with addition of an 18-bp sequence of unknown origin in case 4. X-inactivation analysis revealed random inactivation in cases 1-4. The results argue against the notion that undermasculinization in 46,XX-TDSD is prone to occur when translocated Yp materials are small (<100?kb of the Y-differential region), and imply that the Xp;Yp translocations result from several mechanisms including non-allelic homologous recombination and non-homologous end joining. PMID:25102093

Nakashima, Shinichi; Ohishi, Akira; Takada, Fumio; Kawamura, Hideki; Igarashi, Maki; Fukami, Maki; Ogata, Tsutomu

2014-10-01

173

Characterization of the Skeletal Fusion with Sterility (sks) Mouse Showing Axial Skeleton Abnormalities Caused by Defects of Embryonic Skeletal Development  

PubMed Central

The development of the axial skeleton is a complex process, consisting of segmentation and differentiation of somites and ossification of the vertebrae. The autosomal recessive skeletal fusion with sterility (sks) mutation of the mouse causes skeletal malformations due to fusion of the vertebrae and ribs, but the underlying defects of vertebral formation during embryonic development have not yet been elucidated. For the present study, we examined the skeletal phenotypes of sks/sks mice during embryonic development and the chromosomal localization of the sks locus. Multiple defects of the axial skeleton, including fusion of vertebrae and fusion and bifurcation of ribs, were observed in adult and neonatal sks/sks mice. In addition, we also found polydactyly and delayed skull ossification in the sks/sks mice. Morphological defects, including disorganized vertebral arches and fusions and bifurcations of the axial skeletal elements, were observed during embryonic development at embryonic day 12.5 (E12.5) and E14.5. However, no morphological abnormality was observed at E11.5, indicating that defects of the axial skeleton are caused by malformation of the cartilaginous vertebra and ribs at an early developmental stage after formation and segmentation of the somites. By linkage analysis, the sks locus was mapped to an 8-Mb region of chromosome 4 between D4Mit331 and D4Mit199. Since no gene has already been identified as a cause of malformation of the vertebra and ribs in this region, the gene responsible for sks is suggested to be a novel gene essential for the cartilaginous vertebra and ribs. PMID:24521859

Akiyama, Kouyou; Katayama, Kentaro; Tsuji, Takehito; Kunieda, Tetsuo

2014-01-01

174

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...

175

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

PubMed Central

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

2011-01-01

176

Sex differences in opisthorchiosis and the development of cholangiocarcinoma in Syrian hamster model.  

PubMed

Worldwide, the highest incidence of cholangiocarcinoma (CCA) is found in northeast Thailand, the endemic area of Opisthorchis viverrini infection. Cumulated clinical data revealed that the majority of CCA patients are men. However, many other types of cancers are more commonly found in women. In this study, we investigated the sex differences in the development of CCA, induced by O. viverrini infection and N-nitrosodimethylamine administration, in Syrian hamsters. Histopathology, liver function tests, and fecal egg counts were analyzed. The results showed that there are no sex differences in hamsters responses to O. viverrini infection and no prevalence of CCA development. Even though serum ALT level in O. viverrini-infected or CCA hamsters was significantly increased in female compared to male (p < 0.05) and uninfected control (p < 0.05), our results may imply that the higher prevalence of opisthorchiasis and CCA in men than in women in northeast Thailand may depend on behaviors of an individual exposed to risk factors rather than gender difference. PMID:24318666

Sudsarn, Pakkayanee; Wongchalee, Nadchanan; Boonmars, Thidarut; Laummaunwai, Porntip; Chamgramol, Yaovaluk; Pairojkul, Chawalit; Juasook, Amornrat; Boonjaraspinyo, Sirintip

2014-03-01

177

Family life and human development (sex education): the Prince George's County Public Schools experience.  

PubMed

The Family Life and Human Development (Sex Education) program is now fully implemented in 99.5% of Prince George's County Public Schools. The program is credited with better than 98% parental acceptance and student participation. The administrative guidelines and program supervision are crucial to the program's success. The program was developed to be in compliance with the Maryland State Board of Education Bylaw 13.03.03.01 that requires that sex education be offered. Prior to program implementation, the guidelines were written, parents were involved, and teachers and administrators were trained. All instruction is organized around 3 areas of focus: interpersonal relationships; physiological and personality changes of puberty; and advanced physiology and psychology of human sexual behavior. The major limitation of the program is that in grades 9-12 when such subjects as contraception, abortion, homosexuality and premarital intercourse can be discussed, only a small percentage of the student population are able to enroll each year. The reason for the low percentage include lack of funds to hire additional teachers, limited time due to 1/2 day work/study teachers, and the elective classification of the program. Before a teacher is permitted to teach any aspect of the program that deals with the reproductive system or any potentially sensitive area of sexuality, he/she must 1st meet certain established criteria. PMID:6908929

Schaffer, M J

1981-04-01

178

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

179

Development of genital plates in nymphs of Triatoma pallidipennis, Stål 1872, (Hemiptera: Reduviidae) and its application as sexing method.  

PubMed

Searching for morphometric differences between sexes in immature forms, the development of genital plates in the exuviae of Triatoma pallidipennis Stål 1872 nymphs was studied. Differences were found in the form and size of the 9th genital urosternite, it is larger and wider in males as compared to females. This difference is reported in several South American Triatoma species. From our results it is possible to sex early stages from microscopic observation of genital plates in whole insects. PMID:14595455

Rodríguez-Sánchez, Milton; Alejandre-Aguilar, Ricardo; Nogueda-Torres, Benjamín; Camacho, Alejandro D; Martín-Frías, Eliézer

2003-09-01

180

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. PMID:24586938

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

2014-01-01

181

Sex differences in the development of perceived family cohesion and depressive symptoms in Taiwanese adolescents.  

PubMed

This study investigates the progression of family cohesion perceptions and depressive symptoms during the character development stage in adolescents. Data were used from the Taiwan Youth Project. The final sample comprised 2,690 adolescents with 1,312 girls (48.8%; M age = 13.0 yr., SD = 0.5). Latent curve growth analysis was employed to explore these developments. Seventh-grade girls reported greater family cohesion and more depressive symptoms than boys, and boys reported greater growth in family cohesion than girls. However, progression of depressive symptoms was not associated with the child's sex. Higher perceived family cohesion in Grade 7 correlated with less increase of depressive symptoms from Grades 9 to 11. The long-term positive influence of family cohesion on depressive symptoms is discussed. PMID:24340801

Sze, Tat-Ming; Hsieh, Pei-Jung; Lin, Sieh-Hwa; Chen, I-Jung

2013-08-01

182

Sex determination in mythology and history.  

PubMed

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

Mittwoch, Ursula

2005-02-01

183

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

PubMed Central

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

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

2013-01-01

184

Sex differences in the development of airway epithelial tolerance to naphthalene  

PubMed Central

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

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

2012-01-01

185

Absent or reversed end-diastolic blood flow in the umbilical artery and abnormal Doppler cerebroplacental ratio—cognitive, neurological and somatic development at 3 to 6 years  

Microsoft Academic Search

The objective of this study was to examine the cognitive, neurological and somatic developments of children who had in utero an absent or reversed end-diastolic blood flow (ARED) in the umbilical artery or an abnormal cerebroplacental ratio (ABF). Methods: 16 children with ARED blood flow and 15 children with ABF were each matched to children with the same gestational age,

J Kutschera; J Tomaselli; B Urlesberger; U Maurer; M Häusler; E Gradnitzer; K Burmucic; W Müller

2002-01-01

186

The use of sexually explicit material in clinical, educational and research settings in the United Kingdom and its relation to the development of psychosexual therapy and sex education  

Microsoft Academic Search

The present review describes the development and use of sexually explicit material in sex education within UK psychosexual therapy clinics, medical schools and also in state?maintained secondary schools with reference to interests that have shaped the provision of sex education since the early twentieth century. A short summary of published books on sex education and sexually explicit publications is included.

Marnie Brewster; Kevan R. Wylie

2008-01-01

187

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. PMID:24078916

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

2013-01-01

188

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

PubMed

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

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

2014-09-15

189

A Case of ADHD and a Major Y Chromosome Abnormality  

Microsoft Academic Search

Background: ADHD is a common, heritable disorder of childhood. Sex chromosome abnormalities are relatively rare conditions that are sometimes associated with behavioral disorders. Method: The authors present a male child with ADHD and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the short arm. It is possible that the Y chromosomal abnormality

Aisling Mulligan; Michael Gill; Michael Fitzgerald

2008-01-01

190

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

PubMed Central

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

2013-01-01

191

The Development of Sex Differences in Friendship Patterns and Peer Group Structure During Adolescence  

Microsoft Academic Search

In a naturalistic study of sex differences in friendship patterns and peer group structure during adolescence, 130 groups composed of 321 adolescents were observed in three high schools and six out-of-school settings. No sex differences were found in the percentages of males and females observed in dyads or with a companion of the opposite-sex. Male friends knew each other longer

Raymond Montemayor; Roger Van Komen

1985-01-01

192

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

Microsoft Academic Search

Infantile spasms (ISS) are an epilepsy disorder frequently associated with severe developmental outcome and have diverse genetic etiologies. We ascertained 11 subjects with ISS and novel copy number variants (CNVs) and combined these with a new cohort with deletion 1p36 and ISS, and additional published patients with ISS and other chromosomal abnormalities. Using bioinformatics tools, we analyzed the gene content

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

2011-01-01

193

The predictive value of Doppler flow velocity waveforms in the development of abnormal fetal heart rate traces in intrauterine growth retardation: a longitudinal study.  

PubMed

In a longitudinal, blinded study design the predictive value of Doppler velocimetry for the development of an abnormal fetal heart rate trace was assessed in 42 cases of intrauterine growth retardation. Doppler velocity waveform recordings were obtained at 2- to 3-day intervals and characterized by the standard deviation score of the pulsatility index in the umbilical artery and internal carotid artery, and the peak systolic and time-averaged velocity in the ascending aorta and pulmonary artery. Twenty-seven patients did not display an abnormal fetal heart rate trace on the day of entry into the study. During follow-up of these patients, the pulsatility index in the umbilical artery and internal carotid artery were the most predictive parameters for the development of an abnormal fetal heart rate trace. The resulting prognostic index was found to have an acceptable discriminative power in the prediction of abnormal fetal heart rate traces as established in a second group of growth-retarded fetuses. PMID:8486117

Groenenberg, I A; Hop, W C; Bogers, J W; Santema, J G; Wladimiroff, J W

1993-03-01

194

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

195

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

PubMed Central

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 sub-regions. 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 to 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, Damian G.; Carbone, David L.; Hiroi, Ryoko; Chong, David L.; Handa, Robert J.

2011-01-01

196

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

197

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

198

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

ERIC Educational Resources Information Center

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

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

2013-01-01

199

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

200

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.

201

Temperature Sex Reversal Implies Sex Gene Dosage in a Reptile  

E-print Network

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

Canberra, University of

202

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

Microsoft Academic Search

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

Tsutomu Ogata; Nobutake Matsuo

1995-01-01

203

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

PubMed Central

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

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

2014-01-01

204

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

EPA Science Inventory

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

205

Sex-role attributes, perceived competence and the development of depression in adolescence.  

PubMed

Studies are described which investigated the relationship of sex-role traits to age trends and sex differences in depression in adolescents. Psychological masculinity was negatively related to the level of depression in males and females, and evidence which indicates that this relationship is mediated by a link between masculinity and perceived competence is presented. The level of masculinity was stable across the age ranges studied, but was related to an increasingly higher rate of depression in females than males. It is therefore argued that a sex difference in masculinity arises prior to adolescence, but interacts with other factors which influence vulnerability to depression during the teenage years, thus bringing about the sex difference in depression. PMID:3192665

Wilson, R; Cairns, E

1988-09-01

206

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

ERIC Educational Resources Information Center

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

Lerner, Richard M.; And Others

1975-01-01

207

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

208

SEX-SPECIFIC ENVIRONMENTAL INFLUENCES ON THE DEVELOPMENT OF AUTOIMMUNE DISEASES  

PubMed Central

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

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

2013-01-01

209

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

PubMed Central

We isolated a pollen-defective mutant, collapsed abnormal pollen1 (cap1), from Tos17 insertional mutant lines of rice (Oryza sativa). The cap1 heterozygous plant produced equal numbers of normal and collapsed abnormal grains. The abnormal pollen grains lacked almost all cytoplasmic materials, nuclei, and intine cell walls and did not germinate. Genetic analysis of crosses revealed that the cap1 mutation did not affect female reproduction or vegetative growth. CAP1 encodes a protein consisting of 996 amino acids that showed high similarity to Arabidopsis (Arabidopsis thaliana) l-arabinokinase, which catalyzes the conversion of l-arabinose to l-arabinose 1-phosphate. A wild-type genomic DNA segment containing CAP1 restored mutants to normal pollen grains. During rice pollen development, CAP1 was preferentially expressed in anthers at the bicellular pollen stage, and the effects of the cap1 mutation were mainly detected at this stage. Based on the metabolic pathway of l-arabinose, cap1 pollen phenotype may have been caused by toxic accumulation of l-arabinose or by inhibition of cell wall metabolism due to the lack of UDP-l-arabinose derived from l-arabinose 1-phosphate. The expression pattern of CAP1 was very similar to that of another Arabidopsis homolog that showed 71% amino acid identity with CAP1. Our results suggested that CAP1 and related genes are critical for pollen development in both monocotyledonous and dicotyledonous plants. PMID:23629836

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

2013-01-01

210

CONGENITAL ABNORMALITIES OF CRANIAL NERVE DEVELOPMENT: OVERVIEW, MOLECULAR MECHANISMS, AND FURTHER EVIDENCE OF HETEROGENEITY AND COMPLEXITY OF SYNDROMES WITH CONGENITAL LIMITATION OF EYE MOVEMENTS  

PubMed Central

ABSTRACT Purpose The clinical and molecular genetic classification of syndromes with congenital limitation of eye movements and evidence of cranial nerve dysgenesis continues to evolve. This monograph details clinical and molecular genetic data on a number of families and isolated patients with congenital fibrosis of the extraocular muscles (CFEOM) and related disorders, and presents an overview of the mechanisms of abnormal patterns of motor and sensory cranial nerve development in these rare syndromes. Methods Clinical examination of one patient with CFEOM1, one family with clinical features of CFEOM2, one family with recessive CFEOM3, one family with horizontal gaze palsy and progressive scoliosis (HGPPS), and four patients with various combinations of congenital cranial nerve abnormalities. Genotyping of families with CFEOM and HGPPS for polymorphic markers in the regions of the three known CFEOM loci and in the HGPPS region, and mutation analysis of the ARIX and KIF21A genes in patients with CFEOM were performed according to standard published protocols. Results The patient with CFEOM1 had the second most common mutation in KIF21A, a 2861 G>A mutation that resulted in an R954Q substitution. The family with CFEOM2 phenotype did not map to the CFEOM2 locus. The family with recessive CFEOM3 did not map to any of the known loci. The HGPPS family mapped to 11q23–q25. One patient had optic nerve hypoplasia and fifth nerve dysfunction. Two patients had the rare combination of Möbius syndrome and CFEOM. One patient had Möbius syndrome and fifth nerve dysfunction. Conclusions There is genetic heterogeneity in CFEOM2 and CFEOM3. Abnormalities in sensory nerves can also accompany abnormalities of motor nerves, further substantiating the effect of individual mutations on developing motor as well as sensory cranial nerve nuclei. PMID:15747768

Traboulsi, Elias I

2004-01-01

211

A Progress Report: The Relationship Between Mother-Infant Interaction and Sensory-Motor Development According to Age, Sex and Social Class Background.  

ERIC Educational Resources Information Center

This paper describes the purposes and procedures of a longitudinal study designed to: (1) relate mother-infant interaction patterns to infant age, sex, and social class; (2) relate mother-infant interaction patterns to infant sensory-motor development; and (3) to examine the relationship between infant sensory-motor development and infant sex and…

Curcio, Frank; And Others

212

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

PubMed

Systemic lupus erythematosus (SLE) predominantly affects women of childbearing age. The infrequency of SLE in men and disease onset in prepubertal or postmenopausal women suggests a role of estrogen in the predisposition to the disease. Patients with hypergonadotrophic hypogonadism are prone to the development of SLE, and the use of exogenous estrogens in women increases the relative risk of SLE onset and disease flares. These observations provide indirect evidence for an opposite role of estrogens and androgens in the pathogenesis of SLE. We report on a male-to-female transsexual who developed SLE 20 years after sex-reassignment surgery and prolonged estrogen therapy. The role of sex hormones in SLE is revisited. PMID:23897544

Chan, K L; Mok, C C

2013-11-01

213

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

214

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

215

Celebrating the achievements of sex and relationship peer educators: the development of an assessment process  

Microsoft Academic Search

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

Debbie Morgan; Jonathan Robbins; John Tripp

2004-01-01

216

A note on sex differences in the development of masculine and feminine identification  

Microsoft Academic Search

Differing from the Freudian position, this paper takes the view that a girl's early closeness to her mother gives her an initial advantage in forming sex identification. This is soon overcome, however, by the many cultural privileges and the prestige offered males. Boys must shift from an initial identification with mother, but get cultural rewards for the new role. 4

David B. Lynn

1959-01-01

217

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

218

Beyond the Reinforcement Principle: Another Step Toward Understanding Sex Role Development  

Microsoft Academic Search

Forty children, ages 21 to 25 months, participated in ongoing play groups. Observers then studied these groups, noting the reactions of both peers and teachers to behaviors that could be identified and coded as male, female, or neutral. Teachers, both female and male, were found to respond primarily to the category of behavior. Regardless of the sex of the child,

Beverly I. Fagot

1985-01-01

219

The immunocompetence handicap hypothesis in two sexually dimorphic pinniped species—is there a sex difference in immunity during early development?  

Microsoft Academic Search

The ‘immunocompetence handicap hypothesis’ predicts that highly sexually dimorphic and polygynous species will exhibit sex differences in immunity. We tested this hypothesis in southern elephant and grey seals during their early development by measuring the following parameters: leucocyte counts, serum IgG levels, erythrocyte sedimentation rate and haematocrit. We failed to find any differences due to sex as assessed by the

Ailsa J Hall; Georg H Engelhard; Sophie M. J. M Brasseur; Anna Vecchione; Harry R Burton; Peter J. H Reijnders

2003-01-01

220

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

Microsoft Academic Search

Theory and research on sex differences in adjustment focus largely on parental, societal, and biological influences. However, it also is important to consider how peers contribute to girls' and boys' development. This article provides a critical review of sex differences in several peer relationship processes, including behavioral and social-cognitive styles, stress and coping, and relationship provisions. The authors present a

Amanda J. Rose; Karen D. Rudolph

2006-01-01

221

The Use of Sexually Explicit Material in Clinical, Educational and Research Settings in the United Kingdom and Its Relation to the Development of Psychosexual Therapy and Sex Education  

ERIC Educational Resources Information Center

The present review describes the development and use of sexually explicit material in sex education within UK psychosexual therapy clinics, medical schools and also in state-maintained secondary schools with reference to interests that have shaped the provision of sex education since the early twentieth century. A short summary of published books…

Brewster, Marnie; Wylie, Kevan R.

2008-01-01

222

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

PubMed Central

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

Dubiec, Anna; Cichon, Mariusz; Deptuch, Kinga

2006-01-01

223

Anti-M?llerian Hormone and Its Clinical Use in Pediatrics with Special Emphasis on Disorders of Sex Development  

PubMed Central

Using measurements of circulating anti-Müllerian hormone (AMH) in diagnosing and managing reproductive disorders in pediatric patients requires thorough knowledge on normative values according to age and gender. We provide age- and sex-specific reference ranges for the Immunotech assay and conversion factors for the DSL and Generation II assays. With this tool in hand, the pediatrician can use serum concentrations of AMH when determining the presence of testicular tissue in patients with bilaterally absent testes or more severe Disorders of Sex Development (DSD). Furthermore, AMH can be used as a marker of premature ovarian insufficiency (POI) in both Turner Syndrome patients and in girls with cancer after treatment with alkylating gonadotoxic agents. Lastly, its usefulness has been proposed in the diagnosis of polycystic ovarian syndrome (PCOS) and ovarian granulosa cell tumors and in the evaluation of patients with hypogonadotropic hypogonadism. PMID:24367377

Hagen, Casper P.; Main, Katharina M.; Picard, Jean-Yves; J?rgensen, Anne; Juul, Anders

2013-01-01

224

Molecular Studies in Horses with SRY-Positive XY Sex Reversal  

E-print Network

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

Fang, Erica

2012-02-14

225

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

PubMed

This paper is an ethnography of a four-year, multi-disciplinary adolescent sexual and reproductive health intervention in Bolivia, Nicaragua and Ecuador. An important goal of the intervention--and of the larger global field of adolescent sexual and reproductive health--is to create more open parent-to-teen communication. This paper analyzes the project's efforts to foster such communication and how social actors variously interpreted, responded to, and repurposed the intervention's language and practices. While the intervention emphasized the goal of 'open communication,' its participants more often used the term 'confianza' (trust). This norm was defined in ways that might--or might not--include revealing information about sexual activity. Questioning public health assumptions about parent-teen communication on sex, in and of itself, is key to healthy sexual behavior, the paper explores a pragmatics of communication on sex that includes silence, implied expectations, gendered conflicts, and temporally delayed knowledge. PMID:25175294

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

2014-01-01

226

Incubation Environment Affects Immune System Development in a Turtle with Environmental Sex Determination  

PubMed Central

The developmental environment can have lasting effects on posthatching phenotype in oviparous animals. Innate immune response is one important component of fitness in vertebrates because it provides a generalized defense against infection. In addition, because male vertebrates are at a higher risk of infection than females, males may benefit more from increased innate immunity than females. We determined the effects of incubation temperature on the innate immune response of hatchling map turtles (Graptemys) by incubating eggs at a range of male and female producing-temperatures and assessing plasma complement activity in the resulting hatchlings. We found a significant effect of incubation environment on circulating complement in hatchling Graptemys ouachitensis, with male-producing temperatures yielding the highest innate immune response. Most important, these results demonstrate that immune response is affected by developmental environment in a species with environmental sex determination, potentially resulting in sex differences in the ability to fend off pathogens. PMID:20300480

Freedberg, Steven; Greives, Timothy J.; Ewert, Michael A.; Demas, Gregory E.; Beecher, Nancy; Nelson, Craig E.

2009-01-01

227

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

PubMed Central

This paper is an ethnography of a four-year, multi-disciplinary adolescent sexual and reproductive health intervention in Bolivia, Nicaragua and Ecuador. An important goal of the intervention – and of the larger global field of adolescent sexual and reproductive health – is to create more open parent-to-teen communication. This paper analyzes the project's efforts to foster such communication and how social actors variously interpreted, responded to, and repurposed the intervention's language and practices. While the intervention emphasized the goal of ‘open communication,’ its participants more often used the term ‘confianza’ (trust). This norm was defined in ways that might – or might not – include revealing information about sexual activity. Questioning public health assumptions about parent–teen communication on sex, in and of itself, is key to healthy sexual behavior, the paper explores a pragmatics of communication on sex that includes silence, implied expectations, gendered conflicts, and temporally delayed knowledge. PMID:25175294

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

2014-01-01

228

Sex, stress and the brain: interactive actions of hormones on the developing and adult brain.  

PubMed

Abstract The brain is a target of steroid hormone actions that affect brain architecture, molecular and neurochemical processes, behavior and neuroprotection via both genomic and non-genomic actions. Estrogens have such effects throughout the brain and this article provides an historical and current view of how this new view has come about and how it has affected the study of sex differences, as well as other areas of neuroscience, including the effects of stress on the brain. PMID:25225752

McEwen, B S

2014-12-01

229

Skeletal limb abnormalities  

MedlinePLUS

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

230

Development and Evaluation of ‘Briefing Notes’ as a Novel Knowledge Translation Tool to Aid the Implementation of Sex/Gender Analysis in Systematic Reviews: A Pilot Study  

PubMed Central

Background There is increasing recognition of sex/gender differences in health and the importance of identifying differential effects of interventions for men and women. Yet, to whom the research evidence does or does not apply, with regard to sex/gender, is often insufficiently answered. This is also true for systematic reviews which synthesize results of primary studies. A lack of analysis and reporting of evidence on sex/gender raises concerns about the applicability of systematic reviews. To bridge this gap, this pilot study aimed to translate knowledge about sex/gender analysis (SGA) into a user-friendly ‘briefing note’ format and evaluate its potential in aiding the implementation of SGA in systematic reviews. Methods Our Sex/Gender Methods Group used an interactive process to translate knowledge about sex/gender into briefing notes, a concise communication tool used by policy and decision makers. The briefing notes were developed in collaboration with three Cochrane Collaboration review groups (HIV/AIDS, Hypertension, and Musculoskeletal) who were also the target knowledge users of the briefing notes. Briefing note development was informed by existing systematic review checklists, literature on sex/gender, in-person and virtual meetings, and consultation with topic experts. Finally, we held a workshop for potential users to evaluate the notes. Results Each briefing note provides tailored guidance on considering sex/gender to reviewers who are planning or conducting systematic reviews and includes the rationale for considering sex/gender, with examples specific to each review group’s focus. Review authors found that the briefing notes provided welcome guidance on implementing SGA that was clear and concise, but also identified conceptual and implementation challenges. Conclusions Sex/gender briefing notes are a promising knowledge translation tool. By encouraging sex/gender analysis and equity considerations in systematic reviews, the briefing notes can assist systematic reviewers in ensuring the applicability of research evidence, with the goal of improved health outcomes for diverse populations. PMID:25372876

Doull, Marion; Welch, Vivian; Puil, Lorri; Runnels, Vivien; Coen, Stephanie E.; Shea, Beverley; O’Neill, Jennifer; Borkhoff, Cornelia; Tudiver, Sari; Boscoe, Madeline

2014-01-01

231

Ablation of Mrds1/Ofcc1 Induces Hyper-?-Glutamyl Transpeptidasemia without Abnormal Head Development and Schizophrenia-Relevant Behaviors in Mice  

PubMed Central

Mutations in the Opo gene result in eye malformation in medaka fish. The human ortholog of this gene, MRDS1/OFCC1, is a potentially causal gene for orofacial cleft, as well as a susceptibility gene for schizophrenia, a devastating mental illness. Based on this evidence, we hypothesized that this gene could perform crucial functions in the development of head and brain structures in vertebrates. To test this hypothesis, we created Mrds1/Ofcc1-null mice. Mice were examined thoroughly using an abnormality screening system referred to as “the Japan Mouse Clinic”. No malformations of the head structure, eye or other parts of the body were apparent in these knockout mice. However, the mutant mice showed a marked increase in serum ?-glutamyl transpeptidase (GGT), a marker for liver damage, but no abnormalities in other liver-related measurements. We also performed a family-based association study on the gene in schizophrenia samples of Japanese origin. We found five single nucleotide polymorphisms (SNPs) located across the gene that showed significant transmission distortion, supporting a prior report of association in a Caucasian cohort. However, the knockout mice showed no behavioral phenotypes relevant to schizophrenia. In conclusion, disruption of the Mrds1/Ofcc1 gene elicits asymptomatic hyper-?-glutamyl-transpeptidasemia in mice. However, there were no phenotypes to support a role for the gene in the development of eye and craniofacial structures in vertebrates. These results prompt further examination of the gene, including its putative contribution to hyper-?-glutamyl transpeptidasemia and schizophrenia. PMID:22242126

Ohnishi, Tetsuo; Yamada, Kazuo; Watanabe, Akiko; Ohba, Hisako; Sakaguchi, Toru; Honma, Yota; Iwayama, Yoshimi; Toyota, Tomoko; Maekawa, Motoko; Watanabe, Kazutada; Detera-Wadleigh, Sevilla D.; Wakana, Shigeharu; Yoshikawa, Takeo

2011-01-01

232

Region-, age-, and sex-specific effects of fetal diazepam exposure on the postnatal development of neurosteroids  

PubMed Central

Fetal exposure to diazepam (DZ), a positive modulator of GABAA receptors and an agonist at mitochondrial benzodiazine receptors, induces long-term neural and behavioral effects. This study evaluated whether the early manipulation influenced the normal development of brain levels of neurosteroids or altered steroid action at GABAA receptors. Pregnant dams were injected over gestation days 14 through 20 with DZ (2.5 mg/kg) or the vehicle. Male and female offspring were analyzed at five postnatal ages. The levels of progesterone (P), dihydroprogesterone (DHP), 3?-hydroxy-5?-pregnan-20-one (3?,5?-THP), testosterone (T), dihydrotestosterone, and 5?-androstan-3?,17? diol were measured in the cerebral cortex and diencephalon. The results indicated that development of brain steroid levels and the impact of fetal DZ exposure were region- and sex-specific. Age-related changes in brain steroids did not mirror associated changes in circulating P and T. Age regulated the levels of all 3 progestins in the cerebral cortex, and fetal DZ exposure interacted with the development of P and DHP. The development of 3?,5?-THP in the cortex was markedly influenced by sex, with levels in males decreasing over postnatal development whereas they increased over postpubertal development in females. An adolescent surge in T levels was observed in male cortex and fetal DZ exposure prevented that surge. Steroid levels in the diencephalon were altered by age mainly in females, and DZ exposure had little effect in this region. The data support region-specific regulation of brain steroid synthesis. Only in the cerebral cortex are relevant mechanisms readily modifiable by fetal DZ exposure. However, neither sex nor fetal DZ exposure altered the response of GABAA receptors in adult cortex to neurosteroid. PMID:16376310

Kellogg, Carol K.; Kenjarski, Thomas P.; Pleger, Gloria L.; Frye, Cheryl A.

2013-01-01

233

A Case of ADHD and a Major Y Chromosome Abnormality  

ERIC Educational Resources Information Center

Background: ADHD is a common, heritable disorder of childhood. Sex chromosome abnormalities are relatively rare conditions that are sometimes associated with behavioral disorders. Method: The authors present a male child with ADHD and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the short arm.…

Mulligan, Aisling; Gill, Michael; Fitzgerald, Michael

2008-01-01

234

Anatomical and functional cardiac abnormalities in type I diabetes  

Microsoft Academic Search

Summary  To analyse the anatomy and systolic and diastolic cardiac function in a group of type I diabetics with no other abnormality and to correlate it with the duration of the disease, the presence of complications, the control of the diabetes and the abnormalities in the autonomous nervous system, 125 type I diabetics and 50 age- and sex-matched healthy controls were

F. Illan; M. Valdés-Chávarri; J. Tebar; A. Garcia; H. Pascual; F. Soria; A. Hernfindez; T. Vicente

1992-01-01

235

Congenital and Developmental Abnormalities  

Microsoft Academic Search

Congenital and developmental abnormalities influencing life are rare. They mainly consist of pectus deformities, sternal fusion\\u000a abnormalities and clavicular pseudoarthrosis. The most life-threatening abnormality is cleft sternum which may leave the heart\\u000a and great vessels unprotected.

Anne Grethe Jurik

236

Measuring Abnormal Bond Performance  

Microsoft Academic Search

We analyze the empirical power and specification of test statistics designed to detect abnormal bond returns in corporate event studies, using monthly and daily data. We find that test statistics based on frequently used methods of calculating abnormal monthly bond returns are biased. Most methods implemented in monthly data also lack power to detect abnormal returns. We also consider unique

Hendrik Bessembinder; Kathleen M. Kahle; William F. Maxwell; Danielle Xu

2009-01-01

237

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

PubMed Central

Abstract Young black men who have sex with men (MSM) bear a disproportionate burden of HIV. Rapid expansion of mobile technologies, including smartphone applications (apps), provides a unique opportunity for outreach and tailored health messaging. We collected electronic daily journals and conducted surveys and focus groups with 22 black MSM (age 18–30) at three sites in North Carolina to inform the development of a mobile phone-based intervention. Qualitative data was analyzed thematically using NVivo. Half of the sample earned under $11,000 annually. All participants owned smartphones and had unlimited texting and many had unlimited data plans. Phones were integral to participants' lives and were a primary means of Internet access. Communication was primarily through text messaging and Internet (on-line chatting, social networking sites) rather than calls. Apps were used daily for entertainment, information, productivity, and social networking. Half of participants used their phones to find sex partners; over half used phones to find health information. For an HIV-related app, participants requested user-friendly content about test site locators, sexually transmitted diseases, symptom evaluation, drug and alcohol risk, safe sex, sexuality and relationships, gay-friendly health providers, and connection to other gay/HIV-positive men. For young black MSM in this qualitative study, mobile technologies were a widely used, acceptable means for HIV intervention. Future research is needed to measure patterns and preferences of mobile technology use among broader samples. PMID:23565925

Pike, Emily C.; Fowler, Beth; LeGrand, Sara; Parsons, Jeffrey T.; Bull, Sheana S.; Wilson, Patrick A.; Wohl, David A.; Hightow-Weidman, Lisa B.

2013-01-01

238

From psycho-social theory to sustainable classroom practice: developing a research-based teacher-delivered sex education programme.  

PubMed

This paper describes the development of a theoretically based sex education programme currently undergoing a randomized controlled trial in the UK. It considers some of the practical difficulties involved in translating research-based conclusions into acceptable, replicable and potentially effective classroom lessons. The discussion acknowledges that the implications of social psychological research and the requirements of rigorous evaluation may conflict with accepted principles inherent in current sex education practice. It also emphasizes that theoretical ideas must be carefully embedded in lessons which are informed by an awareness of classroom culture, and the needs and skills of teachers. For example, the use of same-sex student groups to reflect on the gendered construction of sexuality may be problematic. Materials must be tailored to recipients' circumstances, which may require substituting for limited experience with the use of detailed scripts and scenarios. Furthermore, role-play techniques for sexual negotiation that work elsewhere may not be effective in the UK. The use of trigger video sessions and other techniques are recommended. Finally, the problems involved in promoting condom-related skills are discussed. The paper concludes that, if an intervention is to be sustainable beyond the research stage, it must be designed to overcome such problems while remaining theoretically informed. PMID:10788199

Wight, D; Abraham, C

2000-02-01

239

Otoacoustic emissions, auditory evoked potentials and self-reported gender in people affected by disorders of sex development (DSD).  

PubMed

Both otoacoustic emissions (OAEs) and auditory evoked potentials (AEPs) are sexually dimorphic, and both are believed to be influenced by prenatal androgen exposure. OAEs and AEPs were collected from people affected by 1 of 3 categories of disorders of sex development (DSD) - (1) women with complete androgen insensitivity syndrome (CAIS); (2) women with congenital adrenal hyperplasia (CAH); and (3) individuals with 46,XY DSD including prenatal androgen exposure who developed a male gender despite initial rearing as females (men with DSD). Gender identity (GI) and role (GR) were measured both retrospectively and at the time of study participation, using standardized questionnaires. The main objective of this study was to determine if patterns of OAEs and AEPs correlate with gender in people affected by DSD and in controls. A second objective was to assess if OAE and AEP patterns differed according to degrees of prenatal androgen exposure across groups. Control males, men with DSD, and women with CAH produced fewer spontaneous OAEs (SOAEs) - the male-typical pattern - than control females and women with CAIS. Additionally, the number of SOAEs produced correlated with gender development across all groups tested. Although some sex differences in AEPs were observed between control males and females, AEP measures did not correlate with gender development, nor did they vary according to degrees of prenatal androgen exposure, among people with DSD. Thus, OAEs, but not AEPs, may prove useful as bioassays for assessing early brain exposure to androgens and predicting gender development in people with DSD. PMID:25038289

Wisniewski, Amy B; Espinoza-Varas, Blas; Aston, Christopher E; Edmundson, Shelagh; Champlin, Craig A; Pasanen, Edward G; McFadden, Dennis

2014-08-01

240

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

PubMed Central

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

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

2013-01-01

241

Do the Interactions between Glucocorticoids and Sex Hormones Regulate the Development of the Metabolic Syndrome?  

PubMed Central

The metabolic syndrome is basically a maturity-onset disease. Typically, its manifestations begin to flourish years after the initial dietary or environmental aggression began. Since most hormonal, metabolic, or defense responses are practically immediate, the procrastinated response do not seem justified. Only in childhood, the damages of the metabolic syndrome appear with minimal delay. Sex affects the incidence of the metabolic syndrome, but this is more an effect of timing than absolute gender differences, females holding better than males up to menopause, when the differences between sexes tend to disappear. The metabolic syndrome is related to an immune response, countered by a permanent increase in glucocorticoids, which keep the immune system at bay but also induce insulin resistance, alter the lipid metabolism, favor fat deposition, mobilize protein, and decrease androgen synthesis. Androgens limit the operation of glucocorticoids, which is also partly blocked by estrogens, since they decrease inflammation (which enhances glucocorticoid release). These facts suggest that the appearance of the metabolic syndrome symptoms depends on the strength (i.e., levels) of androgens and estrogens. The predominance of glucocorticoids and the full manifestation of the syndrome in men are favored by decreased androgen activity. Low androgens can be found in infancy, maturity, advanced age, or because of their inhibition by glucocorticoids (inflammation, stress, medical treatment). Estrogens decrease inflammation and reduce the glucocorticoid response. Low estrogen (infancy, menopause) again allow the predominance of glucocorticoids and the manifestation of the metabolic syndrome. It is postulated that the equilibrium between sex hormones and glucocorticoids may be a critical element in the timing of the manifestation of metabolic syndrome-related pathologies. PMID:22649414

Alemany, Maria

2012-01-01

242

Development of age of dam and sex adjustment factors for preweaning traits of Brangus cattle  

E-print Network

- creep-fed calves (P & . 005). All interaction effects were relatively small with no major rank order changes. Weaning weight correction factors for age of dam were: 20. 3, 13. 3, 0 and 13. 2 kg for males and 18. 3, 12. 0, 0 and 11. 9 kg for females..., 1981). Based on these studies and others, the Beef Improvement Federation (BIF) (1986) recommends specific additive birth weight and weaning weight adjustments for sex of calf and age of dam applicable to individual breeds of This thesis follows...

Cravey, Matthew David

2012-06-07

243

Hypoxia induces abnormal larval development and affects biofilm-larval interaction in the serpulid polychaete Hydroides elegans.  

PubMed

Hydroides elegans, a worldwide fouling polychaete, can spawn throughout the year, but its recruitment drops during summer when hypoxia prevails. Here, the influence of hypoxia on larval development and settlement of H. elegans was investigated. Results showed that larval development was compromised at 1mg O2 l(-1) with a lower proportion of competent larvae and a higher proportion of malformed larvae, probably due to reduction in clearance rate. Regarding larval settlement, although most of the larvae were reluctant to settle at 1mg O2 l(-1), regardless of the biofilm nature, they settled quickly within 24h in response to the resumption of dissolved oxygen. Furthermore, only about 5% of the larvae settled on the biofilms developed under hypoxia, regardless of dissolved oxygen levels of the seawater. The delayed larval development and potential alteration of biofilm nature owing to hypoxia explained why the recruitment of H. elegans declines during summer. PMID:24050126

Shin, P K S; Leung, J Y S; Qiu, J W; Ang, P O; Chiu, J M Y; Thiyagarajan, V; Cheung, S G

2013-11-15

244

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

245

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

246

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

247

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

PubMed Central

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

2011-01-01

248

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

ERIC Educational Resources Information Center

Bronchopulmonary dysplasia is the most common pulmonary morbidity in preterm infants and is associated with chronic hypoxia. Animal studies have demonstrated structural, neurochemical and functional alterations due to chronic hypoxia in the developing brain. Long-term impairments in visual-motor, gross and fine motor, articulation, reading,…

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

2006-01-01

249

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

250

Abnormal waves during Hurricane Camille  

NASA Astrophysics Data System (ADS)

A reanalysis is reported of the wave time series recorded during Hurricane Camille having as objective the identification of individual waves that satisfy current criteria defining abnormal or freak waves. It is shown that during the hurricane development, a very nonstationary situation has occurred during which the second-order sea state parameters changed significantly with time. The parameters of the largest individual waves in sea states which identify abnormal waves did not show any clear trend, and such waves occurred during the development stage and not when the significant wave height was the largest. It is argued that the present criteria of identification of abnormal waves are not satisfactory, as they do not take into account the nature of the sea states in which the waves occur.

Guedes Soares, C.; Cherneva, Z.; AntãO, E. M.

2004-08-01

251

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

PubMed Central

We used whole-exome sequencing to study three individuals with a distinct condition characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. Affected individuals carried homozygous missense mutations in IMPAD1, the gene coding for gPAPP, a Golgi-resident nucleotide phosphatase that hydrolyzes phosphoadenosine phosphate (PAP), the byproduct of sulfotransferase reactions, to AMP. The mutations affected residues in or adjacent to the phosphatase active site and are predicted to impair enzyme activity. A fourth unrelated patient was subsequently found to be homozygous for a premature termination codon in IMPAD1. Impad1 inactivation in mice has previously been shown to produce chondrodysplasia with abnormal joint formation and impaired proteoglycan sulfation. The human chondrodysplasia associated with gPAPP deficiency joins a growing number of skeletoarticular conditions associated with defective synthesis of sulfated proteoglycans, highlighting the importance of proteoglycans in the development of skeletal elements and joints. PMID:21549340

Vissers, Lisenka E.L.M.; Lausch, Ekkehart; Unger, Sheila; Campos-Xavier, Ana Belinda; Gilissen, Christian; Rossi, Antonio; Del Rosario, Marisol; Venselaar, Hanka; Knoll, Ute; Nampoothiri, Sheela; Nair, Mohandas; Spranger, Jurgen; Brunner, Han G.; Bonafe, Luisa; Veltman, Joris A.; Zabel, Bernhard; Superti-Furga, Andrea

2011-01-01

252

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

PubMed

In tephritids, the sex-determination pathway follows the sex-specific splicing of transformer (tra) mRNA, and the cooperation of tra and transformer-2 (tra-2) to effect the sex-specific splicing of doublesex (dsx), the genetic double-switch responsible for male or female somatic development. The Dominant Male Determiner (M) is the primary signal that controls this pathway. M, as yet uncharacterized, is Y-chromosome linked, expressed in the zygote and directly or indirectly diminishes active TRA protein in male embryos. Here we first demonstrated the high conservation of tra, tra-2 and dsx in two Australian tephritids, Bactrocera tryoni and Bactrocera jarvisi. We then used quantitative reverse transcription PCR on single, sexed embryos to examine expression of the key sex-determination genes during early embryogenesis. Individual embryos were sexed using molecular markers located on the B.?jarvisi?Y-chromosome that was also introgressed into a B.?tryoni line. In B.?jarvisi, sex-specific expression of tra transcripts occurred between 3 to 6?h after egg laying, and the dsx isoform was established by 7?h. These milestones were delayed in B.?tryoni lines. The results provide a time frame for transcriptomic analyses to identify M and its direct targets, plus information on genes that may be targeted for the development of male-only lines for pest management. PMID:25116961

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

2014-12-01

253

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

PubMed Central

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

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

2013-01-01

254

Unisexual cucumber flowers, sex and sex differentiation.  

PubMed

Sex is a universal phenomenon in the world of eukaryotes. Attempts have been made to understand regulatory mechanisms for plant sex determination by investigating unisexual flowers. The cucumber plant is one of the model systems for studying how sex determination is regulated by phytohormones. A systematic investigation of the development of unisexual cucumber flowers is summarized here, and it is suggested that the mechanism of the unisexual flower can help us to understand how the process leading to one type of gametogenesis is prevented. Based on these findings, we concluded that the unisexual cucumber flowers is not an issue of sex differentiation, but instead a mechanism for avoiding self-pollination. Sex differentiation is essentially the divergent point(s) leading to heterogametogenesis. On the basis of analyses of sex differentiation in unicellular organisms and animals as well as the core process of plant life cycle, a concept of "sexual reproduction cycle" is proposed for understanding the essential role of sex and a "progressive model" for future investigations of sex differentiation in plants. PMID:23809434

Bai, Shu-Nong; Xu, Zhi-Hong

2013-01-01

255

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

256

Ectopic expression of nolz-1 in neural progenitors promotes cell cycle exit/premature neuronal differentiation accompanying with abnormal apoptosis in the developing mouse telencephalon.  

PubMed

Nolz-1, as a murine member of the NET zinc-finger protein family, is expressed in post-mitotic differentiating neurons of striatum during development. To explore the function of Nolz-1 in regulating the neurogenesis of forebrain, we studied the effects of ectopic expression of Nolz-1 in neural progenitors. We generated the Cre-loxP dependent conditional transgenic mice in which Nolz-1 was ectopically expressed in proliferative neural progenitors. Ectopic expression of Nolz-1 in neural progenitors by intercrossing the Nolz-1 conditional transgenic mice with the nestin-Cre mice resulted in hypoplasia of telencephalon in double transgenic mice. Decreased proliferation of neural progenitor cells were found in the telencephalon, as evidenced by the reduction of BrdU-, Ki67- and phospho-histone 3-positive cells in E11.5-12.5 germinal zone of telencephalon. Transgenic Nolz-1 also promoted cell cycle exit and as a consequence might facilitate premature differentiation of progenitors, because TuJ1-positive neurons were ectopically found in the ventricular zone and there was a general increase of TuJ1 immunoreactivity in the telencephalon. Moreover, clusters of strong TuJ1-expressing neurons were present in E12.5 germinal zone. Some of these strong TuJ1-positive clusters, however, contained apoptotic condensed DNA, suggesting that inappropriate premature differentiation may lead to abnormal apoptosis in some progenitor cells. Consistent with the transgenic mouse analysis in vivo, similar effects of Nozl-1 over-expression in induction of apoptosis, inhibition of cell proliferation and promotion of neuronal differentiation were also observed in three different N18, ST14A and N2A neural cell lines in vitro. Taken together, our study indicates that ectopic expression of Nolz-1 in neural progenitors promotes cell cycle exit/premature neuronal differentiation and induces abnormal apoptosis in the developing telencephalon. PMID:24073229

Chang, Sunny Li-Yun; Chen, Shih-Yun; Huang, Huai-Huei; Ko, Hsin-An; Liu, Pei-Tsen; Liu, Ya-Chi; Chen, Ping-Hau; Liu, Fu-Chin

2013-01-01

257

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

258

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. PMID:16435959

Rose, Amanda J.; Rudolph, Karen D.

2011-01-01

259

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. PMID:22216345

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

2011-01-01

260

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

261

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

262

Sex Chromosome  

NSDL National Science Digital Library

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

Darryl Leja (National Human Genome Research Institute REV)

2005-04-14

263

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

264

Sex Education with Young Children.  

ERIC Educational Resources Information Center

Discusses guidelines (developed by the Oregon State University Early Childhood Sex Education Project) for developing teacher-parent cooperation in providing sex education to young children. The guidelines concern how to talk about body differences and body functions; how to deal with masturbation, sex play and obscene language; and how to involve…

Koblinsky, Sally; And Others

1980-01-01

265

Metabolic Abnormalities in Children with Asthma  

PubMed Central

Rationale: Childhood asthma and obesity have reached epidemic proportions worldwide, and the latter is also contributing to increasing rates of related metabolic disorders, such as diabetes. Yet, the relationship between asthma, obesity, and abnormal lipid and glucose metabolism is not well understood, nor has it been adequately explored in children. Objectives: To analyze the relationship between asthma diagnosis and body mass in children across the entire range of weight percentile categories, and to test the hypothesis that early derangement in lipid and glucose metabolism is independently associated with increased risk for asthma. Methods: Cross-sectional analysis of a representative sample of public school children from a statewide community-based screening program, including a total of 17,994 children, 4 to 12 years old, living in predominantly rural West Virginia, and enrolled in kindergarten, second, or fifth grade classrooms. Measurements and Main Results: We analyzed demographics; family history; smoke exposure; parent-reported asthma diagnosis; body mass index; evidence of acanthosis nigricans as a marker for developing insulin resistance; and fasting serum lipid profile including total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, and triglycerides. Regardless of their body mass index percentile, children diagnosed with asthma were more likely than children without asthma to have higher triglyceride levels and acanthosis nigricans after controlling for sex differences and smoke exposure. Conclusions: This study provides the first set of community-based data linking asthma, body mass, and metabolic variables in children. In particular, these findings uniquely describe a statistically significant association between asthma and abnormal lipid and glucose metabolism beyond body mass index associations. PMID:20851922

Cottrell, Lesley; Neal, William A.; Ice, Christa; Perez, Miriam K.; Piedimonte, Giovanni

2011-01-01

266

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

PubMed Central

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

Mohler, J. Dawson

1977-01-01

267

The Homeotic Gene Sex Combs Reduced of Drosophila Melanogaster Is Differentially Regulated in the Embryonic and Imaginal Stages of Development  

PubMed Central

The Sex combs reduced (Scr) locus is unique among the genes contained within the Antennapedia complex (ANT-C) of Drosophila melanogaster in that it directs functions that are required for both cephalic and thoracic development in the embryo and the adult. Antibodies raised against protein encoded by Scr were used to follow the distribution of this gene product in embryos and imaginal discs of third instar larvae. Analysis of Scr protein accumulation in embryos hemizygous for breakpoint lesions mapping throughout the locus has allowed us to determine that sequences required for establishment of the Scr embryonic pattern are contained within a region of DNA that overlaps with the identified upstream regulatory region of the segmentation gene fushi tarazu (ftz). Gain-of-function mutations in Scr result in the presence of ectopic sex comb teeth on the first tarsal segment of mesothoracic and metathoracic legs of adult males. Heterozygous combinations of gain-of-function alleles with a wild-type Scr gene exhibit no evidence of ectopic protein localization in the second and third thoracic segments of embryos. However, mesothoracic and metathoracic leg imaginal discs can be shown to accumulate ectopically expressed Scr protein, implying a differential regulation of the Scr gene during these two periods of development. Additionally, we have found that the spatial pattern of Scr gene expression in imaginal tissues involved in the development of the adult thorax is governed in part by synapsis of homologous chromosomes in this region of the ANT-C. However, those imaginal discs that arise anteriorly to the prothorax do not appear to be sensitive to this form of gene regulation. Finally, we have demonstrated that the extent of Scr expression is influenced by mutations at the Polycomb (Pc) locus but not by mutant alleles of the zeste (z) gene. Taken together, our data suggests that Scr gene expression is differentially regulated both temporally and spatially in a manner that is sensitive to the structure of the locus. PMID:1683847

Pattatucci, A. M.; Kaufman, T. C.

1991-01-01

268

Abnormal peripubertal development of the rat mammary gland following exposure in utero and during lactation to a mixture of genistein and the food contaminant vinclozolin.  

PubMed

The impact of early exposure to endocrine disruptor mixtures on mammary gland development is poorly known. Here, we identify the effects of a conception to weaning exposure of rats to the phytoestrogen genistein (G) and/or the antiandrogen vinclozolin (V) at 1mg/kg-d, alone or in association. Using several approaches, we found that G- and GV-exposed rats displayed significantly greater epithelial branching and proliferation, wider terminal end buds than controls at PND35, as well as ductal hyperplasia and periductal fibrosis. Focal branching defects were present in V-exposed rats. An increased ER and AR expression was observed in G- and GV- as compared to V-exposed rats at PND35. Surprisingly, a significant number of GV- and to a lesser extent, V-exposed animals displayed abnormal hyperplasic alveolar structures at PND50. Thus, gestational and lactational exposure to low doses of genistein plus vinclozolin may seriously affect peripubertal development of the rat mammary gland. PMID:21539910

El Sheikh Saad, H; Meduri, G; Phrakonkham, P; Bergès, R; Vacher, S; Djallali, M; Auger, J; Canivenc-Lavier, M C; Perrot-Applanat, M

2011-07-01

269

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. PMID:23658642

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

270

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

271

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

272

Genetics of Sex part 1 I. Sex Determina.on  

E-print Network

.on) · X:A · XX/XY · ZW/ZZ · ESD (environmental sex determina.on) In Zebra fish- both. #12;8/29/12 2 · Some fish - gene.cally programmed sex change during development first, protandrous = male first Sparus aratus protandrous hermaphrodite Sex Determination

Dever, Jennifer A.

273

The expression of nr0b1 and nr5a4 during gonad development and sex change in protandrous black porgy fish, Acanthopagrus schlegeli.  

PubMed

Protandrous black porgy fish, Acanthopagrus schlegeli, have a striking life cycle, with a mono-male sex differentiation at the juvenile stage and male-to-female sex change at 3 yr of age. We report for the first time integrative molecular data on these interesting phenomena. Sex differentiation occurred between 4 and 5 mo of age. Testicular nr5a4 transcripts increased to high levels during sex differentiation (5 mo old), whereas nr0b1 (Dax-1) did not increase until the age of 8 mo. High nr5a4 and nr0b1 expression in testicular tissue, in contrast to low nr5a4 and high nr0b1 expression in ovarian tissue, were found in the male phase of 0(+)- to 2-yr-old fish (before sex change). Increased nr5a4, decreased nr0b1, and increased cyp19a1a were found in the ovarian tissues undergoing development from primary oocytes to vitellogenic oocytes during the natural sex change in 2(+)-yr-old fish. Removal of testicular tissue in 1(+)-yr-old fish resulted in both increased ovarian nr5a4 and genes in the steroidogenic pathway and decreased nr0b1 together with the appearance of vitellogenic oocytes. Ovary developed into the active stage with the increased expression of star and steroidogenic enzymes, including aromatase, in concordance with the decreased expression of nr0b1 in the testis-excised fish. Long-term estradiol (E2) administration resulted in early sex change, but the ovaries were mainly with primary oocytes. Low nr5a4, high nr0b1, and low steroidogenic enzymes, including cyp19a1a expression, were also observed in these E2-fed ovarian tissues. Thus, nr5a4 but not nr0b1 was associated with male sex differentiation. Testicular development required cooperative functions of both nr5a4 and nr0b1. The present study suggests that nr5a4 and nr0b1 have an antagonistic interaction for the oocyte development. Testicular tissue exerted inhibitory effects on ovarian development. It is probable that nr0b1 regulates the timing of vitellogenic development and sex change in black porgy. PMID:17959853

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

2008-02-01

274

Heterozygous Mutation of Drosophila Opa1 Causes the Development of Multiple Organ Abnormalities in an Age-Dependent and Organ-Specific Manner  

E-print Network

mutation resulted in abnormal electroretino- grams (ERG) in an age-mutation of dOpa1 resulted in perturbed ERG profiles in an age-mutation causes a progressive reduction in on-transient amplitudes in an age-

2009-01-01

275

The Relationship between Identity Development and Self-Esteem during the Late Adolescent Years: Sex Differences  

Microsoft Academic Search

The purpose of the two studies reported in this paper was to examine the relationship between identity and self-esteem development during the late adolescent years. Subjects in Study 1 completed the Inventory of Psychosocial Development and a semantic differential measure of four components of self-esteem. Using a backwards stepwise multiple regression procedure the IPD scales that were significant predictors of

Jerome Dusek; O. Bruce Carter; Gary Levy

1986-01-01

276

Disrupted ERK signaling during cortical development leads to abnormal progenitor proliferation, neuronal and network excitability and behavior, modeling human neuro-cardio-facial-cutaneous and related syndromes.  

PubMed

Genetic disorders arising from copy number variations in the ERK (extracellular signal-regulated kinase) MAP (mitogen-activated protein) kinases or mutations in their upstream regulators that result in neuro-cardio-facial-cutaneous syndromes are associated with developmental abnormalities, cognitive deficits, and autism. We developed murine models of these disorders by deleting the ERKs at the beginning of neurogenesis and report disrupted cortical progenitor generation and proliferation, which leads to altered cytoarchitecture of the postnatal brain in a gene-dose-dependent manner. We show that these changes are due to ERK-dependent dysregulation of cyclin D1 and p27(Kip1), resulting in cell cycle elongation, favoring neurogenic over self-renewing divisions. The precocious neurogenesis causes premature progenitor pool depletion, altering the number and distribution of pyramidal neurons. Importantly, loss of ERK2 alters the intrinsic excitability of cortical neurons and contributes to perturbations in global network activity. These changes are associated with elevated anxiety and impaired working and hippocampal-dependent memory in these mice. This study provides a novel mechanistic insight into the basis of cortical malformation which may provide a potential link to cognitive deficits in individuals with altered ERK activity. PMID:22723706

Pucilowska, Joanna; Puzerey, Pavel A; Karlo, J Colleen; Galán, Roberto F; Landreth, Gary E

2012-06-20

277

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

278

Tooth - abnormal colors  

MedlinePLUS

... Questions may involve: When the abnormal coloration began Foods you have been eating Medications you are taking Personal and family health history Exposure to fluoride Oral care habits Other symptoms ...

279

"Jeopardy" in Abnormal Psychology.  

ERIC Educational Resources Information Center

Describes the use of the board game, Jeopardy, in a college level abnormal psychology course. Finds increased student interaction and improved application of information. Reports generally favorable student evaluation of the technique. (CFR)

Keutzer, Carolin S.

1993-01-01

280

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

Microsoft Academic Search

Children exhibit gender-typical preferences in play, toys, activities and interests, and playmates. Several studies suggest that high concentrations of pre- and postnatal androgens contribute to male-typical behavior development, whereas female-typical behavior develops in the absence of high androgens levels. This study aims to explore the consequences of hypoandrogenization on gender-typical behavior in children who have an XY karyotype and disorder

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

2007-01-01

281

Effect of Glucose Concentration During in Vitro Culture of Mouse Embryos on Development to Blastocyst, Success of Embryo Transfer and Litter Sex Ratio  

PubMed Central

SUMMARY A high glucose concentration in the reproductive tract during early development may result in aberrant embryo or fetal development, with effects that could have a greater impact on one sex than the other. Here, we determine whether a high glucose concentration impacts embryo development and pregnancy outcomes in a sex-specific manner in the mouse. Zygotes were cultured in KSOM medium, which typically contains 0.2 mM D-glucose with and without additional glucose supplementation to a concentration of 28 mM. Zygote cleavage and blastocyst rate did not differ between treatments but total and trophectoderm cell counts were reduced in blastocysts cultured in a high glucose. No differences between sexes nor inner cell mass cell number were observed within each treatment. Blastocysts developed in both media were transferred to recipients. The percentage of blastocysts resulting in viable pups was significantly reduced when the blastocysts were cultured in 28 mM glucose (74±4 %, controls vs 55.8±7.1 %, 28 mM glucose), but conceptus loss affected both sexes equally, as litter sex ratio did not differ between treatments (52.7 % and 52.2 % males for controls and high glucose, respectively). Pup body weight at birth was higher for males than females, but was not affected by earlier culture in high glucose. In conclusion, in vitro culture in medium with a glucose concentration approximating that of diabetic serum reduces total and trophectoderm cell numbers at the blastocyst stage and conceptus development to term, but these detrimental effects are not sex-specific. PMID:22461414

Bermejo-Alvarez, P.; Roberts, R. M.; Rosenfeld, C.S.

2014-01-01

282

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

PubMed

Early noxious stimuli may alter the neurogenesis rate in the dentate gyrus and the behavioral repertoire of adult rats. This study evaluated the long-term effects of noxious stimulation, imposed in different phases of development, on nociceptive and anxiety-like behaviors, hippocampal activation, cell proliferation, hippocampal BDNF and plasma corticosterone levels in 40 day-old male and female adolescents. Noxious stimulation was induced by intra-plantar injection of Complete Freund's adjuvant (CFA), on postnatal days (P) 1 (group P1), 8 (P8) or 21 (P21). Control animals were not stimulated in any way. On P21 a subset of animals from each group received BrdU and was perfused on P40 for identification of proliferating cells in the granule cell layer of the dentate gyrus. Another subset of rats was subjected to behavioral testing on P40 and one week later, to magnetic resonance imaging (MRI) acquisition. Noxious stimulation evoked hypoalgesia in adolescents, mainly in females (P < 0.02), reflected by greater latency to withdraw the paw and less paw lickings in the hot plate test than controls (P < 0.001). It also resulted in more time spent in the open arms, e.g., less anxiety-like behavior than controls (P < 0.01), especially in females (P < 0.01, compared with males). Proliferative cell rate in the dentate gyrus was the highest in P8 males and females (P < 0.001), with males exhibiting more proliferation than females on P1 and P8, which was directly related to the hippocampal levels of BDNF and inversely related to plasma corticosterone. Sex differences were also detected in manganese-enhanced MRI signal, which was more prominent in P1 females than males (P < 0.01). This study represents the first step of investigation on the cellular basis of the sex-dependent long-term consequences of nociceptive stimuli in newborns. PMID:24148811

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

2014-02-01

283

Sex-Stereotyping in Child Care. Non-Sexist Child Development Project.  

ERIC Educational Resources Information Center

This paper describes some of the activities of the Women's Action Alliance, a technical assistance organization designed to establish a teacher/parent consciousness raising program, and to develop an early childhood nonsexist curriculum program. Included is a list of a variety of nonsexist instructional materials (children's toys, pictures,…

Women's Action Alliance, Inc., New York, NY.

284

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

ERIC Educational Resources Information Center

The purpose of this study was to develop and test the feasibility of conducting a sexual health intervention for women in Nepal, a country with high political and economic instability and strong patriarchal systems. Of the 88 women enrolled, 100% retention was obtained over three sessions, and 85% completed a 1-month follow-up. Recruitment was so…

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

2012-01-01

285

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

ERIC Educational Resources Information Center

This case study examines the learning, identity and language development experienced by "overage" 8th-grade students who have been left behind two or more years in their New York City middle school and are participating in an extended-day video documentary program. The students practise a range of literacy skills naturally embedded in the…

Goodman, Steven

2010-01-01

286

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

Microsoft Academic Search

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

Jorge Gato; Anne Marie Fontaine

2012-01-01

287

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

288

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

PubMed

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

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

2014-07-01

289

IGF-I, GH, and Sex Steroid Effects in Normal Mammary Gland Development  

Microsoft Academic Search

Although the pubertal surge of estrogen is the immediate stimulus to mammary development, the action of estrogen depends upon\\u000a the presence of pituitary growth hormone and the ability of GH to stimulate production of IGF-I in the mammary gland. Growth\\u000a hormone binds to its receptor in the mammary fat pad, after which production of IGF-I mRNA and IGF-I protein occurs.

David L. Kleinberg; Weifeng Ruan

2008-01-01

290

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. PMID:19583882

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

2009-01-01

291

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. PMID:22863325

2012-01-01

292

Minnesota Sex Offender Screening Tool-Revised (MnSOST-R) Technical Paper: Development, Validation, and Recommended Risk Level Cut Scores  

Microsoft Academic Search

Abstract This paper describes the development, reliability, and validity of the Minnesota Sex Offender Screening Tool –Revised (MnSOST-R), as well as recommended risk levels and cut scores. Variables from multiple dimensions, both static and dynamic, were reviewed for inclusion in

Douglas L. Epperson; James D. Kaul; Robin Goldman

2003-01-01

293

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

294

Technical Aspects: Problems of Scale Development, Norms, Item Differences by Sex, and the Rate of Change in Occupational Group Characteristics (Revised February 6, 1974).  

ERIC Educational Resources Information Center

The scope of the paper is to review the two major interest inventories, exploring the nuances and complexities of the technical aspects in their development, their item sampling, norming, scoring, reporting of results, and changing patterns of interests in relation to the differential treatment of sexes; and to suggest guidelines to eliminate or…

Johansson, Charles B.

295

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

296

The Development and Feasibility of a Brief Risk Reduction Intervention for Newly HIV-Diagnosed Men Who Have Sex with Men  

ERIC Educational Resources Information Center

Men who have sex with men (MSM) represent more than half of all new HIV infections in the United States. Utilizing a collaborative, community-based approach, a brief risk reduction intervention was developed and pilot tested among newly HIV-diagnosed MSM receiving HIV care in a primary care setting. Sixty-five men, within 3 months of diagnosis,…

Sikkema, Kathleen J.; Hansen, Nathan B.; Kochman, Arlene; Santos, Jonathan; Watt, Melissa H.; Wilson, Patrick A.; DeLorenzo, Allyson; Laudato, Jay; Mayer, Gal

2011-01-01

297

Variants of Gender Differentiation in Somatic Disorders of Sex Development: Recommendations for Version 7 of the World Professional Association for Transgender Health's Standards of Care  

Microsoft Academic Search

Many individuals born with genital ambiguity and related conditions (recently recategorized as disorders of sex development [DSD]) experience gender uncertainty or gender dysphoria, and some may undergo self-initiated gender change. Whether these phenomena are sufficiently similar to the presentations of gender identity variants (GIVs) in non-DSD persons (gender identity disorder [GID] in current psychiatric terminology) to warrant the application of

Heino F. L. Meyer-Bahlburg

2009-01-01

298

EmergencyEmergency and Abnormal Situationsand Abnormal Situations  

E-print Network

SituationsAbnormal Situations Neil Johnston Aerospace Psychology Research Group Trinity College DublinEmergencyEmergency and Abnormal Situationsand Abnormal Situations in Aviation Symposiumin Aviation Symposium Santa Clara, June 2003 #12;Responding toResponding to Emergencies andEmergencies and Abnormal

299

Sex determination in dioecious Silene latifolia. Effects of the Y chromosome and the parasitic smut fungus (Ustilago violacea) on gene expression during flower development.  

PubMed Central

We have embarked on a molecular cloning approach to the investigation of sex determination in Silene latifolia Poiret, a dioecious plant species with morphologically distinguishable sex chromosomes. One of our key objectives was to define a range of genes that are up-regulated in male plants in response to Y chromosome sex-determination genes. Here we present the characterization of eight male-specific cDNA sequences and classify these according to their expression dynamics to provide a range of molecular markers for dioecious male flower development. Genetically female S. latifolia plants undergo a partial sex reversal in response to infection by the parasitic smut fungus Ustilago violacea. This phenomenon has been exploited in these studies; male-specific cDNAs have been further categorized as inducible or noninducible in female plants by smut fungus infection. Analysis of the organ-specific expression of male-specific probes in male and female flowers has also identified a gene that is regulated in a sex-specific manner in nonreproductive floral tissues common to both male and female plants. This observation provides, to our knowledge, the first molecular marker for dominant effect of the Y chromosome in nonreproductive floral organs. PMID:9232878

Scutt, C P; Li, T; Robertson, S E; Willis, M E; Gilmartin, P M

1997-01-01

300

[Sex education, sex behavior, contraception].  

PubMed

Sexual behavior has changed during the last decades. Teenage fertility rate, and the number of gonococcal infections are both extremely high; the incidence of HIV-infections is increasing. Preventive measures include sex education. Sex education may help the adolescents to identify their own goals for sexual behavior, to avoid unintended and unwanted pregnancy, and to avoid sexually transmitted diseases. PMID:1945474

Borkenstein, M; Schwingshandl, J; Kuttnig, M; Limbert, C

1991-01-01

301

Muscle growth and development in normal-sex-ratio and all-female diploid and triploid Atlantic salmon.  

PubMed

Muscle development and growth were investigated in diploid populations of normal-sex-ratio and all-female Atlantic salmon (Salmo salar L.) and their triploid counterparts produced by high-pressure treatment. Somites were formed at the rate of 6 h-1 in both diploids and triploids at 6 degrees C. The rostral-to-caudal development of myotubes, myofibrils and acetylcholinesterase staining at the myosepta was slightly more advanced in triploid than in diploid fish, although the differences were smaller than among individual families. The c-met receptor tyrosine kinase was used as a molecular marker for the satellite cells involved in postembryonic muscle growth. Satellite cell nuclei comprised 17.5 % of total myonuclei in smolts and they were 24 % more abundant in diploid than in triploid fish. Cells expressing the myogenic regulatory factor myf-6, a marker of satellite cells committed to differentiation, represented 14.8 % of total myonuclei in diploids and 12.5 % in triploids. At ambient temperatures, the number of white muscle fibres in normal-sex-ratio fish increased more than 30-fold between the alevin and smolt stages, and approximately 3.5-fold further during the first year of seawater growth. The rate of muscle fibre recruitment in seawater stages was significantly greater in diploid than in triploid fish, reaching 1162 fibres day-1 and 608 fibres day-1, respectively, in all-female groups 800 days post-hatching. For 42 cm fork-length fish, there were approximately one-third more muscle fibres per myotome in diploid than in triploid groups, 649 878 and 413 619, respectively, for all-female fish. The probability density function of muscle fibre diameters in each fish was estimated using non-parametric smoothing techniques, and the mean densities for diploids (fD) and triploids (fT) were calculated. The peak fibre diameter was approximately 20 (micro)m in all age classes, irrespective of ploidy. Distinct bimodal distributions of muscle fibre diameter were evident in all groups 775 days and 839 days post-hatching, reflecting seasonal cycles of fibre recruitment. fD and fT were compared using a non-parametric bootstrap technique and the reference band representing the null-hypothesis indicated that there was no difference with ploidy. Reference bands for normal-sex-ratio fish at 315 days and 470 days indicated that diploids had a higher percentage of smaller-diameter fibres and that triploid distributions had a thicker right-hand tail. Similar differences in fD and fT of muscle fibre diameters were found for all-female fish, although the statistical evidence was less strong. Reference bands indicated differences in the middle range of the distributions of muscle fibre diameter in fish 620-775 days post-hatch, with triploids having a thicker right-hand tail. Thus, a lower density of satellite cells was associated with reduced rates of fibre recruitment but a compensatory increase in muscle fibre hypertrophy in triploid compared with diploid fish. PMID:10393816

Johnston, I A; Strugnell, G; McCracken, M L; Johnstone, R

1999-08-01

302

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

303

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). PMID:7713420

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

1995-01-01

304

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

PubMed Central

Background.?Seroadaptive behaviors are strategies employed by men who have sex with men (MSM) to reduce the transmission risk for human immunodeficiency virus (HIV). It has been suggested that they contribute to the increasing diagnoses of sexually transmitted infections in HIV-diagnosed MSM. To understand the context in which the reemerging sexually transmitted infections appear, we developed a social epidemiological model incorporating the multiple factors influencing seroadaptive behaviors. Methods.?A literature review of seroadaptive behaviors in HIV-diagnosed MSM was conducted. The literature was synthesized using a social epidemiological perspective. Results.?Seroadaptive behaviors are adopted by MSM in high-income countries and are a way for HIV-diagnosed men to manage and enjoy their sexual lives. Influences are apparent at structural, community, interpersonal, and intrapersonal levels. There is little evidence of whether and when the behavior forms part of a premeditated strategy; it seems dependent on the social context and on time since HIV diagnosis. Social rules of HIV disclosure and perception of risk depend on the setting where partners are encountered. Conclusions.?Seroadaptive behaviors are strongly context dependent and can reduce or increase transmission risk for different infectious diseases. Further data collection and mathematical modeling can help us explore the specific conditions in more detail. PMID:25381379

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

2014-01-01

305

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

PubMed Central

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

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

2011-01-01

306

Detection of Abnormal Hemoglobins.  

National Technical Information Service (NTIS)

An intensive literature survey was performed to review the methods and products used to detect, identify and/or quantitate abnormal or variant hemoglobins in human erythrocytes. The report consists of a bibliography (198 citations, 1968-1979) and a summar...

J. Atwater, B. E. Hindman, K. Joseph

1979-01-01

307

Abnormal Psychology Psychology 280  

E-print Network

psychopathology perspective to understand: 2.1. risk and protective factors influencing the etiology abnormal behavior in everyday life and we need to gain a better understanding of the etiology, social worker, therapist, etc.) directly rely on having extensive knowledge of psychopathology. #12

Liu, Taosheng

308

Sex tourism  

Microsoft Academic Search

\\u000a The following chapter addresses the sex market as an economic sector of tourism. It does not reflect the author's personal\\u000a opinion on religious, health, criminal or moral issues. This chapter is divided into two parts, examining the demand and the\\u000a supply side issues respectively. More specifically, it addresses questions regarding the sex tourism segment's estimated market\\u000a size, consumption patterns, geographical

Daniel Bunn

309

Sex Education Content and Teenage Motherhood  

Microsoft Academic Search

Sex education is a controversial topic in many countries. Research on the effectiveness of sex education is optimistic, but the content of sex education learned by teenagers is often unknown. Using data from the National Child Development Study of Great Britain, this study examines the sex education lessons reported at age 16 by subjects and their school headteachers, and the

STEPHEN T. RUSSELL

1998-01-01

310

Sex Offender Registration Information Sex Offender Registration  

E-print Network

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

Escher, Christine

311

Knowledge about Puberty and Sexual Development in 11?16 Year?olds: implications for health and sex education in schools  

Microsoft Academic Search

Knowledge is an important but largely neglected variable in sex education research. This study aimed to develop a measure to assess young people's knowledge about puberty and sexual development, and to examine knowledge in relation to age, gender and school. The main results of the study were that knowledge increased more between age 11\\/12 and 13\\/14 than between 13\\/14 and

Sandra Winn; Debi Roker; John Coleman

1995-01-01

312

The role of chromosome abnormalities in reproductive failure  

E-print Network

pregnancies is given. Data on the parental origin of sex chromosome abnormalities and certain autosomal cellules en culture. Cependant, les récents développements des sondes dADN ont permis de déterminer l wastage that is present at all stages of pregnancy. The fecundity of man has been estimated to be around

Boyer, Edmond

313

Personality and Examination Score Correlates of Abnormal Psychology Course Ratings.  

ERIC Educational Resources Information Center

The relationship between the ratings students assigned to an evening undergraduate abnormal psychology class and their scores on objective personality tests and course examinations was investigated. Students (N=70) completed the MMPI and made global ratings of the course; these scores were correlated separately by sex with the T scores of 13 MMPI…

Pauker, Jerome D.

314

The Image of Women in Abnormal Psychology: Professionalism versus Psychopathology.  

ERIC Educational Resources Information Center

A survey of sex stereotyping in photographs was made of major current-edition textbooks of abnormal psychology published in the United States. In photographs of contributors to the field women were significantly underrepresented, amounting to less that 5 percent of the contributors pictured. (Author)

Harris, Ben; Lightner, Jean

1980-01-01

315

The Sex Chromosomes in Evolution and in Medicine  

PubMed Central

The recent emergence of human cytogenetics has a firm foundation in studies on other forms of life. Historical highlights are Mendel's studies on the garden pea (published in 1865 but lost in an obscure journal until 1900); formulation of cytogenic postulates by Sutton and Boveri (1902-1903); Bridges' discovery of chromosome abnormalities in Drosophila (1916), followed by numerous similar studies in plants; and demonstration of the chromosomal basis of the syndromes of Down, Klinefelter and Turner in man (1959). The sex chromosomes (XX and XY) evolved from a pair of undifferentiated autosomes of a premammalian ancestor, the X chromosome changing less than the Y as they evolved. Eleven numerical abnormalities of the sex chromosomes are known in man, and knowledge of their effects on development is accumulating. The abnormal complexes range in size from the XO error of Turner's syndrome to the XXXXY error of a variant of Klinefelter's syndrome. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8 PMID:4224254

Barr, Murray L.

1966-01-01

316

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

317

Sex ratio dependent dispersal when sex ratios vary between patches.  

PubMed

Female biased sex ratios reduce competition between brothers when mating takes place within local patches. Male dispersal prior to mating is another strategy that reduces competition between brothers. One may thus expect these two traits to co-evolve and this is partially met in that sex ratios becomes less female biased as dispersal increases. However, the evolutionary stable degree of dispersal is unaffected by the sex ratio. The analytical models developed to reach these conclusions ignored variance in sex ratios, since this increases the structural complexity of models. For similar reasons finite clutch sizes are also routinely ignored. To overcome these shortfalls, we developed individual based simulations that allowed us to incorporate realistic clutch sizes and binomial variance in sex ratios between patches. We show that under variable sex ratios, males evolve to more readily disperse away from patches with higher sex ratios than lower sex ratios. We show that, while the dispersal rate is insensitive to the sex ratio when sex ratios are precise, it is affected by the number of males with dispersal decreasing as the number of males decreases. PMID:21893071

Nelson, Ronald M; Greeff, Jaco M

2011-12-01

318

Current status of sexing mammalian spermatozoa.  

PubMed

Thousands of offspring have now been produced via artificial insemination with spermatozoa sexed by flow cytometry and cell sorting. We are unaware of any other practical approach to sexing spermatozoa that maintains fertility. Accuracy of sexing usually is 85-95% in most species, but somewhat lower with human spermatozoa. Spermatozoa are sexed in series, one at a time, at routine rates of about 3000 live spermatozoa of each sex per second for most species, and nearly twice that rate under optimal conditions for some species. Owing to various constraints and statistical considerations, there appears to be an upper theoretical limit to sexing spermatozoa of about 10,000 live spermatozoa of each sex per second with current methodology. About a quarter of the spermatozoa processed are sexed; the rest are discarded in the process or lost due to logistical constraints. Spermatozoa undergo some damage during sorting, although much less in terms of viability than with routine cryopreservation; fertility is lower with sexed than control spermatozoa. Offspring from sexed spermatozoa appear to have no more abnormalities than do controls, and both groups grow and thrive similarly. Despite high costs and complex procedures, sexing spermatozoa, usually followed by cryopreservation, is being used commercially for cattle and horse production in several countries, and is used to produce girls to avoid X-chromosome-linked genetic diseases. PMID:12537000

Seidel, George E; Garner, Duane L

2002-12-01

319

Adequately address abnormal operations  

SciTech Connect

Abnormal situation management (ASM) is a safety issue, and safety long has been a top priority for companies in the chemical process industries (CPI). To investigate and identify root causes of abnormal operations and to pinpoint best practices for preventing these situations or at least handling them most effectively, the author formed a team and conducted surveys around the world, including the US, Canada, the United Kingdom, Europe, and Japan. The author visited a variety of facilities, including gas processing plants, oil refineries, a coker, ethylene plant, polyethylene units, steam-generating stations, as well as transportation and storage facilities. The team identified eight key issues: lack of management leadership; the significant role of human errors; inadequate design of the work environment; absence of procedures for dealing with abnormal operations (as opposed to emergencies); loss of valuable information from earlier minor incidents; the potential economic return; transferability of good ASM performance to other plants; and the importance of teamwork and job design. The paper looks at each of these in more detail, as well as what`s involved in assessing the ASM at a site.

Nimmo, I. [Honeywell Industrial Automation and Control, Phoenix, AZ (United States)

1995-09-01

320

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

PubMed Central

Background The German Network of Disorders of Sex Development (DSD)/Intersexuality carried out a large scale clinical evaluation study on quality of life, gender identity, treatment satisfaction, coping, and problems associated with diagnoses and therapies in individuals with disorders of sex development (DSD). DSD are a heterogeneous group of various genetic disorders of sex determination or sex differentiation, all of which are rare conditions. In about half of all cases the molecular genetic diagnosis is unknown and diagnosis rests on clinical features. Methods and design The multi-centre clinical evaluation study includes short-term follow-up in some and cross-sectional assessments in all age and diagnostic groups fitting the criteria of DSD. Recruitment was from January 2005 until December 2007 in whole Germany and, additionally, in 2007 in Austria and German-speaking Switzerland. The study consists of a psychosocial inquiry for children, adolescents and their parents, and adults with standardized instruments and the collection of DSD-specific medical data by the attending physician. The main goal was the description of clinical outcomes and the health-care situation of individuals with DSD using a broad generic definition of DSD including all conditions with a mismatch of chromosomal, gonadal and phenotypical sex. 439 children and adolescents, their parents and adults with DSD participated. Discussion The clinical evaluation study represents the most comprehensive study in this clinical field. The paper discusses the study protocol, the data management and data quality as well as the classification used, and it describes the study population. Given the lack of large datasets in rare conditions such as DSD and often biased results from small scale clinical case series, the study aims to generate concrete hypotheses for evidence-based guidelines, which should be tested in further studies. PMID:19383134

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

2009-01-01

321

Feeling Abnormal: Simulation of Deviancy in Abnormal and Exceptionality Courses.  

ERIC Educational Resources Information Center

Describes activity in which student in abnormal psychology and psychology of exceptional children classes personally experience being judged abnormal. The experience allows the students to remember relevant research, become sensitized to the feelings of individuals classified as deviant, and use caution in classifying individuals as abnormal.…

Fernald, Charles D.

1980-01-01

322

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

323

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

324

Roentgenologic Abnormalities in Down's Syndrome.  

National Technical Information Service (NTIS)

Roentgenograms of 28 patients with Down's syndrome were reviewed with emphasis on all previously reported abnormalities and any possible additional ones. Most of the abnormalities occurred with the same frequency as previously reported, but some less freq...

T. Higuchi, W. J. Russell, M. Komatsuda, S. Neriishi

1968-01-01

325

Epilepsy and chromosomal abnormalities  

Microsoft Academic Search

Background  Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations,\\u000a among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes\\u000a frequently reported in chromosomal disorders.\\u000a \\u000a \\u000a \\u000a \\u000a Methods  Detailed clinical assessment, electrophysiological studies, survey of the literature.\\u000a \\u000a \\u000a \\u000a Results  In some of these congenital syndromes the clinical presentation and EEG

Giovanni Sorge; Anna Sorge

2010-01-01

326

Cytogenetic abnormalities in Tunisian women with premature ovarian failure.  

PubMed

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

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

2014-12-01

327

A Theoretical Analysis of Sex Differences In Same-Sex Friendships.  

ERIC Educational Resources Information Center

Investigates sex differences in same-sex friendships of 312 undergraduate students in terms of the intersection and social penetration model of relationship development, and Bem's theory of sex role orientation. Finds significant sex-related differences in depth, duration, and involvement. (FMW)

Barth, Robert J.; Kinder, Bill N.

1988-01-01

328

Relationship of sex guilt and moral reasoning to premarital sex in college women and in couples  

Microsoft Academic Search

Used the Mosher Forced-Choice Guilt Inventory, the Sex Experience Inventory, and Kohlberg's Moral Dilemmas Questionnaire in Exp I to assess 119 unmarried college women with regard to sex behavior, sex guilt, and moral reasoning. Categories of sexual expression were developed which were useful in predicting behavior. Guilt was a better predictor of sex than morality. Maintaining virginity and losing it

Judith F. DAugelli; Herbert J. Cross

1975-01-01

329

Spirometric abnormalities among welders  

SciTech Connect

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

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

1991-10-01

330

Sexual Risk Behaviors, Alcohol Abuse, and Intimate Partner Violence among Sex Workers in Mongolia: Implications for HIV Prevention Intervention Development  

PubMed Central

SUMMARY This study examines HIV/STI risk behaviors, alcohol abuse, intimate partner violence, and psychological distress among 48 female sex workers in Mongolia to inform the design of a gender-specific, HIV/STI prevention intervention for this population. Quantitative findings demonstrate that over 85% of women reported drinking alcohol at harmful levels; 70% reported using condoms inconsistently with any sexual partner; 83% reported using alcohol before engaging in sex with paying partners, and 38% reported high levels of depression. Focus group findings provide contextual support and narrative descriptions for the ways that poverty, alcohol abuse, interpersonal violence, and cultural norms that stigmatize and marginalize women are intertwined risk factors for STIs, including HIV, among these vulnerable women. PMID:20391057

Witte, Susan S.; Batsukh, Altantsetseg; Chang, Mingway

2010-01-01

331

Development, validation and comparison of LC-MS/MS and RIA methods for quantification of vertebrates-like sex-steroids in prosobranch molluscs.  

PubMed

The role of vertebrate-like sex-steroids (testosterone, T, progesterone, P, and 17beta-estradiol, E2) in molluscs is still debated, but they could represent potential biomarkers of endocrine disruption. A radioimmunoassay (RIA) and a liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) methods have been developed and compared to measure their levels in a gastropod snail Potamopyrgus antipodarum. Both methods showed a good reproducibility despite the complex matrix and the very low levels of vertebrate-like sex-steroids. Only T and P were detected using the LC-MS/MS method, while the RIA method reached lower detection limits and enabled the detection of all three steroids. Results indicated that T and P were mainly present as unconjugated forms. Both methods were compared in the analysis of snails exposed to waste water treatment plant effluents and led to the same conclusions concerning the modulation of steroids levels. Moreover, they both were in agreement concerning T measurements. On the other hand, LC-MS/MS appeared to be more suitable when analyzing P levels due to a low sensitivity of the RIA method. As E2 was not measured using the LC-MS/MS method because of a higher detection limit compared to the other steroids, the results obtained with the RIA method should be interpreted with caution. LC-MS/MS remains the gold standard for sex-steroid determinations, however a relevant and alternative method based on RIA was developed, requiring fewer organisms. RIA seems a promising method as a screening tool for experimental use, allowing comparison of sex-steroid levels in the mudsnail both in laboratory and in field experiments. PMID:20399713

Gust, M; Vulliet, E; Giroud, B; Garnier, F; Couturier, S; Garric, J; Buronfosse, T

2010-06-01

332

Heterosexual and Homosexual Partners Practising Unprotected Sex May Develop Allogeneic Immunity and to a Lesser Extent Tolerance  

Microsoft Academic Search

BackgroundEpidemiological studies suggest that allogeneic immunity may inhibit HIV-1 transmission from mother to baby and is less frequent in multiparous than uniparous women. Alloimmune responses may also be elicited during unprotected heterosexual intercourse, which is associated ex vivo with resistance to HIV infection.Methodology\\/Principal FindingsThe investigation was carried out in well-defined heterosexual and homosexual monogamous partners, practising unprotected sex and a

Cherry Kingsley; Barry Peters; Kaboutar Babaahmady; Laura Pomeroy; Durdana Rahman; Robert Vaughan; Thomas Lehner; Derya Unutmaz

2009-01-01

333

Sexual Risk Behaviors, Alcohol Abuse, and Intimate Partner Violence Among Sex Workers in Mongolia: Implications for HIV Prevention Intervention Development  

Microsoft Academic Search

This study examines HIV\\/STI risk behaviors, alcohol abuse, intimate partner violence, and psychological distress among 48 female sex workers in Mongolia to inform the design of a gender-specific, HIV\\/STI prevention intervention for this population. Quantitative findings demonstrate that over 85% of women reported drinking alcohol at harmful levels; 70% reported using condoms inconsistently with any sexual partner; 83% reported using

Susan S. Witte; Altantsetseg Batsukh; Mingway Chang

2010-01-01

334

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

335

Contemporary Sex Roles for Adolescents  

Microsoft Academic Search

This article reviews various social influences and their effects on adolescent sex role development, including parents, peers, media, schools, race, social class and religion. The authors conclude that teens may experience sex role strain based on pressures to conform to gender expectations. Implications for social work practice are discussed.

Dianne F. Harrison; R. Clark Pennell

1989-01-01

336

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

337

Sex bias in schizophrenia research: A short report  

Microsoft Academic Search

Lack of consideration of possible sex differences among schizophrenics and a possible male bias was noted in a survey of 3 refereed journals publishing schizophrenia research. Studies in the Journal of Abnormal Psychology, the Journal of Nervous and Mental Disease, and the Archives of General Psychiatry often failed even to specify the sex composition of their schizophrenic samples. In addition,

Otto F. Wahl

1977-01-01

338

Empathy in sex offenders  

Microsoft Academic Search

Sex offenders are thought to suffer from deficits in their capacity to experience empathy, and this is considered to be important in the development, and particularly the maintenance, of their deviant behaviour. The concept of empathy, however, is confused. A multicomponent staged model of empathy is outlined, and it is suggested that empathy deficits may be more person-specific than has

Yolanda Maria Fernandez

1995-01-01

339

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

PubMed

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

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

2014-01-01

340

Underlying karyotype abnormalities in IVF/ICSI patients.  

PubMed

Cytogenetic investigations are performed in couples asking for IVF or intracytoplasmic sperm injection (ICSI) treatment. These serve a diagnostic purpose because male or female infertility might have a chromosomal origin. Chromosomal aberrations found in these patients include numerical abnormalities, such as Klinefelter syndrome, XYY karyotype or Turner syndrome and its variants; sex reversions, such as XX males or XY females; and also structural abnormalities, such as Robertsonian or reciprocal translocations and inversions. Finding the chromosomal origin of infertility in a patient also has a prognostic value because it aids the management of pregnancies obtained after IVF or ICSI and may lead to a proposal of prenatal or preimplantation genetic diagnosis. PMID:18413060

Chantot-Bastaraud, S; Ravel, C; Siffroi, J P

2008-04-01

341

Sex and stripping  

PubMed Central

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

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

2010-01-01

342

From gene networks underlying sex determination and gonadal differentiation to the development of neural networks regulating sociosexual behavior  

PubMed Central

Genes are not expressed in isolation any more than social behavior has meaning outside of society. Both are in dynamic flux with the immediate environment that the gene/individual finds itself, which in turn establishes the timing, pattern, and conditions of expression. This means that complex behaviors and their genetic underpinnings should be viewed as a cumulative process, or as the result of experiences up to that point in time and, at the same time, as setting the stage for what will follow. The evidence indicates that as experiences accumulate throughout life, early experiences shape how genes/individuals will respond to later experiences, whereas later experiences modify the effects of these earlier experiences. A method of graphically representing and analyzing change in gene and neural networks is presented. Results from several animal model systems will be described to illustrate these methods. First, we will consider the phenomenon of temperature-dependent sex determination in reptiles. We will illustrate how the experience of a particular temperature during a sensitive period of embryogenesis sculpts not only the patterns of expression of genes involved in sex determination and gonadal differentiation but also the morphological, physiological, neuroendocrine, and behavioral traits of the adult phenotype. The second model system concerns the effects of the sex ratio in the litter in rats, and the genotype ratio in the litter of transgenic mice, on the nature and frequency of maternal care and how this in turn influences the patterns of activation of identified neural circuits subserving the offspring's sociosexual behavior when it is an adult. PMID:16905124

Crews, David; Lou, Wendy; Fleming, Alison; Ogawa, Sonoko

2008-01-01

343

Early administration of the glucose-dependent insulinotropic polypeptide receptor antagonist (Pro 3 )GIP prevents the development of diabetes and related metabolic abnormalities associated with genetically inherited obesity in ob\\/ob mice  

Microsoft Academic Search

Aims\\/hypothesis  Ablation of gastric inhibitory polypeptide (GIP) receptor action is reported to protect against obesity and associated metabolic\\u000a abnormalities. The aim of this study was to use prediabetic ob\\/ob mice to examine whether 60 days of chemical GIP receptor ablation with (Pro3)GIP is able to counter the development of genetic obesity-related diabetes.\\u000a \\u000a \\u000a \\u000a Materials and methods  Young (5–7 weeks) ob\\/ob mice received once daily i.p.

N. Irwin; P. L. McClean; F. P. M. O’Harte; V. A. Gault; P. Harriott; P. R. Flatt

2007-01-01

344

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

345

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype  

PubMed Central

Background The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)). DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have an increased risk of developing type II germ cell tumors/cancer (GCC), most likely related to TSPY. The Sex determining Region on the Y gene (SRY) is located on the short arm of the Y-chromosome and is the crucial switch that initiates testis determination and subsequent male development. Mutations in this gene are responsible for sex reversal in approximately 10-15% of 46,XY pure gonadal dysgenesis (46,XY DSD) cases. The majority of the mutations described are located in the central HMG domain, which is involved in the binding and bending of the DNA and harbors two nuclear localization signals. SRY mutations have also been found in a small number of patients with a 45,X/46,XY karyotype and might play a role in the maldevelopment of the gonads. Methods To thoroughly investigate the presence of possible SRY gene mutations in mosaic DSD patients, we performed next generation (deep) sequencing on the genomic DNA of fourteen independent patients (twelve 45,X/46,XY, one 45,X/46,XX/46,XY, and one 46,XX/46,XY). Results and conclusions The results demonstrate that aberrations in SRY are rare in mosaic DSD patients and therefore do not play a significant role in the etiology of the disease. PMID:23157850

2012-01-01

346

Sex differences in fear conditioning in posttraumatic stress disorder  

PubMed Central

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

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

2013-01-01

347

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

PubMed

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

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

2003-11-01

348

The many faces of sex work  

Microsoft Academic Search

Objective: To compile a global typography of commercial sex work.Methods: A Medline search and review of 681 “prostitution” articles was conducted. In addition, the investigators pooled their 20 years of collected papers and monographs, and their observations in more than 15 countries. Arbitrary categories were developed to compile a workable typology of sex work.Results: At least 25 types of sex

C Harcourt; B Donovan

2005-01-01

349

Osteogenesis imperfecta: evidence for the existence of an abnormal amino acid sequence in the molecule of dermal collagen.  

PubMed

A collagen-type pattern of peptide and amino acid spots was obtained when partial hydrolysates of normal human dermis were examined by a specially developed thin-layer chromatographic (TLC) 'finger-printing' technique. The pattern was consistent and independent of age and sex. Two clinically similar cases of osteogenesis imperfecta congenita gave identical patterns which differed in specific regions from those given by their age-matched, normal controls. A single case of osteogenesis imperfecta tarda showed the same overall pattern as the congenita cases. It is concluded that an abnormal amino acid sequence occurs in the collagen molecule of both types of osteogenesis imperfecta. PMID:117246

Heathcote, J G; Al-Alawi, S

1978-01-01

350

Sex- and age- specific relations between economic development, economic inequality and homicide rates in people aged 0-24 years: a cross-sectional analysis.  

PubMed Central

OBJECTIVE: To test whether relations between economic development, economic inequality, and child and youth homicide rates are sex- and age-specific, and whether a country's wealth modifies the impact of economic inequality on homicide rates. METHODS: Outcome variables were homicide rates around 1994 in males and females in the age ranges 0-4, 5-9, 10-14, 15-19 and 20-24 years from 61 countries. Predictor variables were per capita gross domestic product (GDP), GINI coefficient, percentage change in per capita gross national product (GNP) and female economic activity as a percentage of male economic activity. Relations were analysed by ordinary least squares regression. FINDINGS: All predictors explained significant variances in homicide rates in those aged 15-24. Associations were stronger for males than females and weak for children aged 0-9. Models that included female economic inequality and percentage change in GNP increased the effect in children aged 0-9 and the explained variance in females aged 20-24. For children aged 0-4, country clustering by income increased the explained variance for both sexes. For males aged 15-24, the association with economic inequality was strong in countries with low incomes and weak in those with high incomes. CONCLUSION: Relations between economic factors and child and youth homicide rates varied with age and sex. Interventions to target economic factors would have the strongest impact on rates of homicide in young adults and late adolescent males. In societies with high economic inequality, redistributing wealth without increasing per capita GDP would reduce homicide rates less than redistributions linked with overall economic development. PMID:12471400

Butchart, Alexander; Engstrom, Karin

2002-01-01

351

Gray matter abnormalities in paranoid schizophrenia and their clinical correlations  

Microsoft Academic Search

Numerous imaging studies have shown structural brain abnormalities in schizophrenia. Recently, voxel-based morphometry enabled whole brain analysis beyond the regions of interest (ROI). Regional gray matter concentrations of magnetic resonance (MR) images from 35 patients with paranoid schizophrenia were compared with those from 35 age- and sex-matched controls, and their clinical correlations were explored using voxel-based morphometry. Gray matter concentrations

Tae Hyon Ha; Tak Youn; Kyoo Seob Ha; Kyu Sik Rho; Jong Min Lee; In Young Kim; Sun I. Kim; Jun Soo Kwon

2004-01-01

352

Teaching Retarded Children about Sex.  

ERIC Educational Resources Information Center

Mentally retarded children need sex education, not only about biological factors involved in sexuality, but also in terms of emotional and social development as well. Ways that parents can prepare retarded youngsters to cope with emerging sexuality are discussed. (PP)

Kempton, Winifred

1983-01-01

353

Sex differences in primary hypertension  

PubMed Central

Men have higher blood pressure than women through much of life regardless of race and ethnicity. This is a robust and highly conserved sex difference that it is also observed across species including dogs, rats, mice and chickens and it is found in induced, genetic and transgenic animal models of hypertension. Not only do the differences between the ovarian and testicular hormonal milieu contribute to this sexual dimorphism in blood pressure, the sex chromosomes also play a role in and of themselves. This review primarily focuses on epidemiological studies of blood pressure in men and women and experimental models of hypertension in both sexes. Gaps in current knowledge regarding what underlie male-female differences in blood pressure control are discussed. Elucidating the mechanisms underlying sex differences in hypertension may lead to the development of anti-hypertensives tailored to one's sex and ultimately to improved therapeutic strategies for treating this disease and preventing its devastating consequences. PMID:22417477

2012-01-01

354

Systemic abnormalities in liver disease  

PubMed Central

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

Minemura, Masami; Tajiri, Kazuto; Shimizu, Yukihiro

2009-01-01

355

TMI abnormal waste project plan  

Microsoft Academic Search

This report discusses plans for the TMI Abnormal Waste Project, which is part of the EPICOR and Waste Research and Disposition Program and funded by the US Department of Energy. The sequence proposed for disposition of Three Mile Island (TMI) abnormal wastes includes: (a) packaging at TMI, (b) shipment to the Idaho National Engineering Laboratory (INEL), (c) storage at INEL

Ayers; A. L. Jr

1984-01-01

356

Students' reactions to abnormal psychology  

Microsoft Academic Search

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

W. S. Taylor

1932-01-01

357

abnormalities in infants and toddlers  

E-print Network

, Akshoomoff 2000). Similarly, patients with fetal alcohol syndrome (FAS) have decreased cerebellar volumesCerebellar abnormalities in infants and toddlers with Williams syndrome Wendy Jones* PhD, The Salk-mail: jones@crl.ucsd.edu One commonly observed neuroanatomical abnormality in adults with Williams syndrome

Bellugi, Ursula

358

Sex-linked recessive  

MedlinePLUS

... abnormal gene (but no symptoms) is called a carrier. A carrier can pass this abnormal gene to his or ... a given birth, if the mother is a carrier (only one abnormal X chromosome) and the father ...

359

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

Microsoft Academic Search

Several members of the phthalate ester family have antiandrogenic properties, yet little is known about how exposure to these ubiquitous environmental contaminants early in development may affect sexual development. We conducted experiments to determine effects of in utero and lacta- tional exposure to the most prevalent phthalate ester, di(2-ethylhexyl) phthalate (DEHP), on male reproductive system development and sexual behavior. Sprague-Dawley

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

360

Sex, age, pubertal development and use of oral contraceptives in relation to serum concentrations of DHEA, DHEAS, 17?-hydroxyprogesterone, ?4-androstenedione, testosterone and their ratios in children, adolescents and young adults.  

PubMed

The influence of sex, age, pubertal development and oral contraceptives on dehydroepiandrosterone (DHEA), DHEA sulfate (DHEAS), 17?-hydroxyprogesterone (17-OHP), ?4-androstenedione (Adione), testosterone (T), calculated free testosterone (fT), free androgen index (FAI) and selected ratios in 1798 serum samples from healthy children, adolescents and young adults was evaluated. Samples were analyzed by Turboflow-LC-MS/MS. Sex hormone-binding globulin was analyzed by immunoassay. All steroid metabolite concentrations were positively associated with age and pubertal development in both sexes and generally higher in males than in females except for Adione. The pubertal rise in T in males was more pronounced compared to females, reflecting contribution from the testes. Ratios between steroid metabolites varied and depended on sex and age. All ratios were lower during infancy compared to later in life. Use of oral contraceptives significantly lowered serum concentrations of all steroid metabolites, fT, FAI, the 17-OHP/Adione, the Adione/T and the DHEA/Adione ratios, but not the DHEA/DHEAS ratio. We provide reference ranges for DHEA, DHEAS, 17-OHP, Adione, T, fT, FAI and selected ratios in relation to sex, age and pubertal development. Use of oral contraceptives strongly influences adrenal steroidogenesis and should be considered when diagnosing and monitoring treatment of patients with disorders of sex development. PMID:24976611

Søeborg, Tue; Frederiksen, Hanne; Mouritsen, Annette; Johannsen, Trine Holm; Main, Katharina Maria; Jørgensen, Niels; Petersen, Jørgen Holm; Andersson, Anna-Maria; Juul, Anders

2014-11-01

361

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

PubMed

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

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

2012-08-01

362

Prostitution & Sex Trafficking  

E-print Network

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

New Hampshire, University of

363

Sex, dependency, and helping  

Microsoft Academic Search

Examined whether the difference in the helping behavior of males and females is due to the sex of the person giving help or the sex of the person receiving it. In an experiment with 52 male and 52 female undergraduates, dependency, sex of potential helper, and sex of dependent person were all varied factorially. An interaction of dependency and sex

Charles L. Gruder; Thomas D. Cook

1971-01-01

364

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

Microsoft Academic Search

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

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

2011-01-01

365

Functional neuroimaging abnormalities in idiopathic generalized epilepsy  

PubMed Central

Magnetic resonance imaging (MRI) techniques have been used to quantitatively assess focal and network abnormalities. Idiopathic generalized epilepsy (IGE) is characterized by bilateral synchronous spike–wave discharges on electroencephalography (EEG) but normal clinical MRI. Dysfunctions involving the neocortex, particularly the prefrontal cortex, and thalamus likely contribute to seizure activity. To identify possible morphometric and functional differences in the brains of IGE patients and normal controls, we employed measures of thalamic volumes, cortical thickness, gray–white blurring, fractional anisotropy (FA) measures from diffusion tensor imaging (DTI) and fractional amplitude of low frequency fluctuations (fALFF) in thalamic subregions from resting state functional MRI. Data from 27 patients with IGE and 27 age- and sex-matched controls showed similar thalamic volumes, cortical thickness and gray–white contrast. There were no differences in FA values on DTI in tracts connecting the thalamus and prefrontal cortex. Functional analysis revealed decreased fALFF in the prefrontal cortex (PFC) subregion of the thalamus in patients with IGE. We provide minimum detectable effect sizes for each measure used in the study. Our analysis indicates that fMRI-based methods are more sensitive than quantitative structural techniques for characterizing brain abnormalities in IGE. PMID:25383319

McGill, Megan L.; Devinsky, Orrin; Wang, Xiuyuan; Quinn, Brian T.; Pardoe, Heath; Carlson, Chad; Butler, Tracy; Kuzniecky, Ruben; Thesen, Thomas

2014-01-01

366

Sex ratio, sex change, and natural selection.  

PubMed Central

We describe the analogy between the theory of natural selection on sex ratio in newborn gonochores (which will not change sex), and on the age of sex change in sequential hermaphrodites (which are all born into one sex and change to the other later on). We also discuss the conditions under which natural selection favors sequential hermaphrodites over gonochores and vice versa. We show that, in a nearly stable population of nearly constant age composition, selection favors a rare mutant if it increases the prospective reproduction of its newborn bearers that are (or while they are) members of one sex by a percentage exceeding the percentage loss to the other sex. PMID:1068478

Leigh, E G; Charnov, E L; Warner, R R

1976-01-01

367

Abnormalities in the Development of the Tectal Projection from Transplants of Embryonic Occipital Cortex Placed in the Damaged Occipital Cortex of Newborn Rats  

Microsoft Academic Search

We have examined the degree of precision in the topographic arrangement of the tectal projection developed by homotopic transplants of embryonic occipital cortex and tried to determine whether the development of the corticotectal projection is exclusively dependent on environmental cues or is also controlled by intrinsic factors. Transplants of embryonic (E16) occipital cortex were grafted into various areas of the

Afsaneh Gaillard; Jérôme Létang; Isabelle Frappé; Michel Roger

1997-01-01

368

Esophageal motility abnormalities in gastroesophageal reflux disease.  

PubMed

Esophageal motility abnormalities are among the main factors implicated in the pathogenesis of gastroesophageal reflux disease. The recent introduction in clinical and research practice of novel esophageal testing has markedly improved our understanding of the mechanisms contributing to the development of gastroesophageal reflux disease, allowing a better management of patients with this disorder. In this context, the present article intends to provide an overview of the current literature about esophageal motility dysfunctions in patients with gastroesophageal reflux disease. Esophageal manometry, by recording intraluminal pressure, represents the gold standard to diagnose esophageal motility abnormalities. In particular, using novel techniques, such as high resolution manometry with or without concurrent intraluminal impedance monitoring, transient lower esophageal sphincter (LES) relaxations, hypotensive LES, ineffective esophageal peristalsis and bolus transit abnormalities have been better defined and strongly implicated in gastroesophageal reflux disease development. Overall, recent findings suggest that esophageal motility abnormalities are increasingly prevalent with increasing severity of reflux disease, from non-erosive reflux disease to erosive reflux disease and Barrett's esophagus. Characterizing esophageal dysmotility among different subgroups of patients with reflux disease may represent a fundamental approach to properly diagnose these patients and, thus, to set up the best therapeutic management. Currently, surgery represents the only reliable way to restore the esophagogastric junction integrity and to reduce transient LES relaxations that are considered to be the predominant mechanism by which gastric contents can enter the esophagus. On that ground, more in depth future studies assessing the pathogenetic role of dysmotility in patients with reflux disease are warranted. PMID:24868489

Martinucci, Irene; de Bortoli, Nicola; Giacchino, Maria; Bodini, Giorgia; Marabotto, Elisa; Marchi, Santino; Savarino, Vincenzo; Savarino, Edoardo

2014-05-01

369

Safer Sex Guidelines  

MedlinePLUS

... barriers. Be sure to use water-based lubricants. Oral sex has low risk of transmitting HIV, but it ... the penis, can be used as barriers during oral sex. Condoms without lubricants are best for oral sex. ...

370

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

PubMed Central

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

2010-01-01

371

Mammalian sex hormones in plants.  

PubMed

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

Janeczko, Anna; Skoczowski, Andrzej

2005-01-01

372

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

PubMed

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

Valenzuela, N

2010-01-01

373

[Walking abnormalities in children].  

PubMed

Walking is a spontaneous movement termed locomotion that is promoted by activation of antigravity muscles by serotonergic (5HT) neurons. Development of antigravity activity follows 3 developmental epochs of the sleep-wake (S-W) cycle and is modulated by particular 5HT neurons in each epoch. Activation of antigravity activities occurs in the first epoch (around the age of 3 to 4 months) as restriction of atonia in rapid eye movement (REM) stage and development of circadian S-W cycle. These activities strengthen in the second epoch, with modulation of day-time sleep and induction of crawling around the age of 8 months and induction of walking by 1 year. Around the age of 1 year 6 months, absence of guarded walking and interlimb cordination is observed along with modulation of day-time sleep to once in the afternoon. Bipedal walking in upright position occurs in the third epoch, with development of a biphasic S-W cycle by the age of 4-5 years. Patients with infantile autism (IA), Rett syndrome (RTT), or Tourette syndrome (TS) show failure in the development of the first, second, or third epoch, respectively. Patients with IA fail to develop interlimb coordination; those with RTT, crawling and walking; and those with TS, walking in upright posture. Basic pathophysiology underlying these condition is failure in restricting atonia in REM stage; this induces dysfunction of the pedunculopontine nucleus and consequently dys- or hypofunction of the dopamine (DA) neurons. DA hypofunction in the developing brain, associated with compensatory upward regulation of the DA receptors causes psychobehavioral disorders in infancy (IA), failure in synaptogenesis in the frontal cortex and functional development of the motor and associate cortexes in late infancy through the basal ganglia (RTT), and failure in functional development of the prefrontal cortex through the basal ganglia (TS). Further, locomotion failure in early childhood causes failure in development of functional specialization of the cortex through the spinal stepping generator-fastigial nucleus-thalamus-cortex pathway. Early detection of locomotion failure and early adjustment of this condition through environmental factors can prevent the development of higher cortical dysfunction. PMID:21068458

Segawa, Masaya

2010-11-01

374

Ablation of Mrds1\\/Ofcc1 Induces Hyper-?-Glutamyl Transpeptidasemia without Abnormal Head Development and Schizophrenia-Relevant Behaviors in Mice  

Microsoft Academic Search

Mutations in the Opo gene result in eye malformation in medaka fish. The human ortholog of this gene, MRDS1\\/OFCC1, is a potentially causal gene for orofacial cleft, as well as a susceptibility gene for schizophrenia, a devastating mental illness. Based on this evidence, we hypothesized that this gene could perform crucial functions in the development of head and brain structures

Tetsuo Ohnishi; Kazuo Yamada; Akiko Watanabe; Hisako Ohba; Toru Sakaguchi; Yota Honma; Yoshimi Iwayama; Tomoko Toyota; Motoko Maekawa; Kazutada Watanabe; Sevilla D. Detera-Wadleigh; Shigeharu Wakana; Takeo Yoshikawa

2011-01-01

375

Myelodysplastic syndromes: pathogenesis, functional abnormalities, and clinical implications.  

PubMed Central

The myelodysplastic syndromes represent a preleukaemic state in which a clonal abnormality of haemopoietic stem cell is characterised by a variety of phenotypic manifestations with varying degrees of ineffective haemopoiesis. This state probably develops as a sequence of events in which the earliest stages may be difficult to detect by conventional pathological techniques. The process is characterised by genetic changes leading to abnormal control of cell proliferation and differentiation. Expansion of an abnormal clone may be related to independence from normal growth factors, insensitivity to normal inhibitory factors, suppression of normal clonal growth, or changes in the immunological or nutritional condition of the host. The haematological picture is of peripheral blood cytopenias: a cellular bone marrow, and functional abnormalities of erythroid, myeloid, and megakaryocytic cells. In most cases marrow cells have an abnormal DNA content, often with disturbances of the cell cycle: an abnormal karyotype is common in premalignant clones. Growth abnormalities of erythroid or granulocyte-macrophage progenitors are common in marrow cultures, and lineage specific surface membrane markers indicate aberrations of differentiation. Progression of the disorder may occur through clonal expansion or through clonal evolution with a greater degree of malignancy. Current attempts to influence abnormal growth and differentiation have had only limited success. Clinical recognition of the syndrome depends on an acute awareness of the signs combined with the identification of clonal and functional abnormalities. PMID:2999194

Jacobs, A

1985-01-01

376

The dilemma of the gender assignment in a Portuguese adolescent with disorder of sex development due to 17?-hydroxysteroid-dehydrogenase type 3 enzyme deficiency  

PubMed Central

Summary The development of male internal and external genitalia in an XY fetus requires a complex interplay of many critical genes, enzymes, and cofactors. The enzyme 17?-hydroxysteroid-dehydrogenase type 3 (17?HSD3) is present almost exclusively in the testicles and converts Delta 4-androstenodione (?4) to testosterone. A deficiency in this enzyme is rare and is a frequently misdiagnosed autosomal recessive cause of 46,XY, disorder of sex development. The case report is of a 15-year-old adolescent, who was raised according to female gender. At puberty, the adolescent had a severe virilization and primary amenorrhea. The physical examination showed a male phenotype with micropenis and blind vagina. The Tanner stage was A3B1P4, nonpalpable gonads. The karyotype revealed 46,XY. The endocrinology study revealed: testosterone=2.38?ng/ml, ?4>10.00?ng/ml, and low testosterone/?4 ratio=0.23. Magnetic resonance imaging of the abdominal–pelvic showed the presence of testicles in inguinal canal, seminal vesicle, prostate, micropenis, and absence of uterus and vagina. The genetic study confirmed the mutation p.Glu215Asp on HSD17B3 gene in homozygosity. The dilemma of sex reassignment was seriously considered when the diagnosis was made. During all procedures the patient was accompanied by a child psychiatrist/psychologist. The teenager desired to continue being a female, so gonadectomy was performed. Estrogen therapy and surgical procedure to change external genitalia was carried out. In this case, there was a severe virilization at puberty. It is speculated to be due to a partial activity of 17?HSD3 in the testicles and/or extratesticular ability to convert ?4 to testosterone by 17?HSD5. Prenatal exposure of the brain to androgens has increasingly been put forward as a critical factor in gender identity development, but in this case the social factor was more important for the gender assignment. Learning points In this case, we highlight the late diagnosis, probably because the patient belongs to a poor family without proper primary medical care.We emphasize the psychological and social aspects in the sex assignment decision.

Castro-Correia, Cintia; Mira-Coelho, Alda; Monteiro, Bessa; Monteiro, Joaquim; Hughes, Ieuan; Fontoura, Manuel

2014-01-01

377

Review of recent outcome data of disorders of sex development (DSD): emphasis on surgical and sexual outcomes.  

PubMed

This paper is a review of some of the recent publications regarding outcome of DSD patients, with an emphasis upon surgical and sexual outcomes. Currently available outcome studies of patients with DSDs have limitations because of multiple factors, including lack of representative patient sampling, and lack of adequate information concerning both medical and surgical care, and psychological, social and family support. The most frequent reports involve females with 21-?-hydroxylase deficiency congenital adrenal hyperplasia (CAH). This most common form of DSD, if one excludes hypospadias and cryptorchidism, is an excellent example of a form of DSD in which all aspects of outcome, regarding surgery, sexual functionality and sensitivity, psychological input and endocrine hormonal therapy, carry a major role. The goals of therapy include a surgical outcome with a good cosmetic appearance and functionality with potential for sexual intercourse with sufficient sensitivity for satisfactory responsiveness. Endocrine replacement therapy should provide a normal adrenal hormonal milieu, while sex steroid therapy may be indicated. Psychological care should be provided from birth with gradual transition primarily to the patient, including basic counseling with full disclosure, although adjustment depends upon the patient's personality and parents' abilities and acceptance. Among forms of DSD involving gonadal insufficiency, hormonal replacement therapy should provide physiologic levels. Among females, estrogen therapy enhances healing after feminizing surgery and is required from puberty throughout adult life to maintain femininity, sexual organs and bone health, and enhance gender and sexuality. Among males, appropriate testosterone therapy maintains stamina, muscle tone, bone health, libido, sexual potency and general well-being, while benefit for healing after genital surgery is unclear. Further, outcome is clearly related to predominant cultural factors. Outcome studies should include evaluation of all of these factors. PMID:23158651

Lee, Peter; Schober, Justine; Nordenström, Anna; Hoebeke, Piet; Houk, Christopher; Looijenga, Leendert; Manzoni, Gianantonio; Reiner, William; Woodhouse, Christopher

2012-12-01

378

Predicting sex offender recidivism. I. Correcting for item overselection and accuracy overestimation in scale development. II. Sampling error-induced attenuation of predictive validity over base rate information.  

PubMed

The authors demonstrate a statistical bootstrapping method for obtaining unbiased item selection and predictive validity estimates from a scale development sample, using data (N = 256) of Epperson et al. [2003 Minnesota Sex Offender Screening Tool-Revised (MnSOST-R) technical paper: Development, validation, and recommended risk level cut scores. Retrieved November 18, 2006 from Iowa State University Department of Psychology web site: http://www.psychology.iastate.edu/ approximately dle/mnsost_download.htm] from which the Minnesota Sex Offender Screening Tool-Revised (MnSOST-R) was developed. Validity (area under receiver operating characteristic curve) reported by Epperson et al. was .77 with 16 items selected. The present analysis yielded an asymptotically unbiased estimator AUC = .58. The present article also focused on the degree to which sampling error renders estimated cutting scores (appropriate to local [varying] recidivism base rates) nonoptimal, so that the long-run performance (measured by correct fraction, the total proportion of correct classifications) of these estimated cutting scores is poor, when they are applied to their parent populations (having assumed values for AUC and recidivism rate). This was investigated by Monte Carlo simulation over a range of AUC and recidivism rate values. Results indicate that, except for the AUC values higher than have ever been cross-validated, in combination with recidivism base rates severalfold higher than the literature average [Hanson and Morton-Bourgon, 2004, Predictors of sexual recidivism: An updated meta-analysis. (User report 2004-02.). Ottawa: Public Safety and Emergency Preparedness Canada], the user of an instrument similar in performance to the MnSOST-R cannot expect to achieve correct fraction performance notably in excess of what is achievable from knowing the population recidivism rate alone. The authors discuss the legal implications of their findings for procedural and substantive due process in relation to state sexually violent person commitment statutes and the Supreme Court's Kansas v. Hendricks decision regarding the constitutionality of such statutes. PMID:17610052

Vrieze, Scott I; Grove, William M

2008-06-01

379

Sex, mixability, and modularity  

PubMed Central

The assumption that different genetic elements can make separate contributions to the same quantitative trait was originally made in order to reconcile biometry and Mendelism and ever since has been used in population genetics, specifically for the trait of fitness. Here we show that sex is responsible for the existence of separate genetic effects on fitness and, more generally, for the existence of a hierarchy of genetic evolutionary modules. Using the tools developed in the process, we also demonstrate that in terms of their fitness effects, separation and fusion of genes are associated with the increase and decrease of the recombination rate between them, respectively. Implications for sex and evolution theory are discussed. PMID:20080594

Livnat, Adi; Papadimitriou, Christos; Pippenger, Nicholas; Feldman, Marcus W.

2010-01-01

380

The Contribution of Women's Thought to Developmental Theory: The Elimination of Sex Bias in Moral Development Research and Education.  

ERIC Educational Resources Information Center

Investigations of moral development have usually relied on longitudinal research on adolescent males; such research has served as a basis for national educational efforts to foster moral development. To represent female as well as male perspectives in constructing theories of human development, conceptions of morality and conceptions of self and…

Gilligan, Carol; And Others

381

Molecular mechanisms underlying sex change in hermaphroditic groupers.  

PubMed

Groupers are widely distributed throughout the tropical and subtropical waters of the world and are regarded as a favourite marine food fish. However, their large-scale aquaculture has been hindered by the rarity of natural males. Being protogynous hermaphrodites, groupers have been considered as study model for development and reproduction, especially for sex determination or sex differentiation, owing to the advantage that grouper gonad development undergoes transition from ovary to intersexual gonad and then to testis, and primordial germ cells and different stages of gametic cells during oogenesis and spermatogenesis are synchronously observed in the transitional gonads. Recently, a series of genes related to the reproduction regulation or sex differentiation have been identified in the groupers, mainly by researchers in China. One important finding was that the grouper gene, doublesex/male abnormal 3-related transcription factor 1 (DMRT1), is not only differentially expressed in gonads at different stages, but that it is also restricted to specific stages and specific cells of spermatogenesis. Grouper DMRT1 protein exists only in spermatogonia, primary spermatocytes and secondary spermatocytes, but not in the supporting Sertoli cells. Moreover, no introns were found in the grouper DMRT1, and no duplicated DMRT1 genes were detected. The finding implies that the intronless DMRT1 that is able to undergo rapid transcriptional turnover might be a significant gene for stimulating spermatogenesis in the protogynous hermaphroditic gonad. Additionally, we have found that grouper expression of sex-determining region Y-related high-mobility group-box gene 3 (SOX3) is a significant time point for enterable gametogenesis of primordial germ cells, because SOX3 is obviously expressed and localized in primordial germ cells. As SOX3 continues to express, the SOX3-positive primordial germ cells develop toward oogonia and then oocytes, whereas, when SOX3 expression is ceased, the SOX3-positive primordial germ cells develop toward spermatogonia. Therefore, we suggest that SOX3, as a transcription factor, might have more important roles in oogenesis than in spermatogenesis. Based on the findings, a hypothetic molecular mechanism underlying sex change is proposed in the hermaphroditic groupers, and some candidate genes related to the grouper sex change are also suggested for further research. PMID:20467860

Zhou, Li; Gui, Jian-Fang

2010-06-01

382

Commercial lubricant use among HIV-negative men who have sex with men in Los Angeles: implications for the development of rectal microbicides for HIV prevention.  

PubMed

To inform the development and assess potential use of rectal microbicide gels for HIV prevention among men who have sex with men (MSM), we examined the dynamics and contexts of commercial lubricant use during receptive anal intercourse (RAI) within this population. From 2007 to 2010, 168 HIV-negative MSM living in Los Angeles who practice RAI completed computer-assisted self-interviews, which collected information on their last sexual event with ?3 recent partners, at baseline, three months, and one-year study visits. Logistic generalized linear mixed models were used to identify individual- and sexual event-level characteristics associated with commercial lubricant use during RAI at the last sexual event within 421 partnerships reported by participants over the course of follow-up. During RAI at their last sexual event, 57% of partnerships used a condom and 69% used commercial lubricant. Among partnerships that used commercial lubricant, 56% reported lubricant application by both members of the partnership, 66% first applied lubricant during sex, but before penetration, and 98% applied lubricant at multiple locations. The relationship between substance use and commercial lubricant use varied by condom use (interaction p-value = 0.01). Substance use was positively associated with commercial lubricant use within partnerships that did not use condoms during RAI at their last sexual event (adjusted odds ratio [AOR] = 4.47, 95% confidence interval [CI]: 1.63-12.28), but no association was observed within partnerships that did use condoms (AOR = 0.66, 95% CI: 0.23-1.85). Commercial lubricant use during RAI was also positively associated with reporting more sexual partners (AOR = 1.18, 95% CI: 1.05-1.31), while older age (units = 5 years; AOR = 0.75, 95% CI: 0.61-0.94), homelessness (past year; AOR = 0.32, 95% CI: 0.13-0.76), and having sex with an older (>10 years) partner (AOR = 0.37, 95% CI: 0.14-0.95) were negatively associated with commercial lubricant use. These factors should be considered in the development of rectal microbicide gels to enhance their acceptability and use among MSM. PMID:25022198

Pines, Heather A; Gorbach, Pamina M; Reback, Cathy J; Landovitz, Raphael J; Mutchler, Matt G; Mitsuyasu, Ronald

2014-12-01

383

THE DEVELOPMENT AND FEASIBILITY OF A BRIEF RISK REDUCTION INTERVENTION FOR NEWLY HIV-DIAGNOSED MEN WHO HAVE SEX WITH MEN  

PubMed Central

Men who have sex with men (MSM) represent more than half of all new HIV infections in the United States. Utilizing a collaborative, community based approach, a brief risk reduction intervention was developed and pilot tested among newly HIV-diagnosed MSM receiving HIV care in a primary care setting. Sixty-five men, within 3 months of diagnosis, were randomly assigned to the experimental condition or control condition and assessed at baseline, 3-month, and 6-month follow-up. Effect sizes were calculated to explore differences between conditions and over time. Results demonstrated the potential effectiveness of the intervention in reducing risk behavior, improving mental health, and increasing use of ancillary services. Process evaluation data demonstrated the acceptability of the intervention to patients, clinic staff, and administration. The results provide evidence that a brief intervention can be successfully integrated into HIV care services for newly diagnosed MSM and should be evaluated for efficacy. PMID:22228917

Sikkema, Kathleen J.; Hansen, Nathan B.; Kochman, Arlene; Santos, Jonathan; Watt, Melissa H.; Wilson, Patrick A.; DeLorenzo, Allyson; Laudato, Jay; Mayer, Gal

2011-01-01

384

Implications of the Wnt5a/CaMKII Pathway in Retinoic Acid-Induced Myogenic Tongue Abnormalities of Developing Mice  

PubMed Central

Although proper tongue development is relevant to other structures in the craniofacial region, the molecular details of muscle development in tongue remain poorly understood. Here, we report that pregnant mice treated with retinoic acid (+RA) produce embryos with tongue malformation and a cleft palate. Histological analyses revealed that at E14.5, the tongues of +RA fetuses failed to descend and flatten. Ultrastructural analysis showed that at perinatal stage E18.5, the myofilaments failed to form normal structures of sarcomeres, and arranged disorderly in the genioglossus. The proliferation and levels of myogenic determination markers (Myf5 and MyoD) and myosin in the genioglossus were profoundly reduced. Wnt5a and Camk2d expressions were down-regulated, while levels of Tbx1, Ror2, and PKC? were up-regulated in the tongues of +RA fetuses. In mock- and Wnt5a-transfected C2C12 (Wnt5a-C2C12) cells, Wnt5a overexpression impaired proliferation, and maintained Myf5 at a relative high level after RA treatment. Furthermore, Wnt5a overexpression positively correlated with levels of Camk2d and Ror2 in C2C12 cells after RA exposure. These data support the hypothesis that the Wnt5a/CaMKII pathway is directly involved in RA-induced hypoplasia and disorder of tongue muscles. PMID:25124193

Cong, Wei; Liu, Bo; Liu, Shuqing; Sun, Mingzhong; Liu, Han; Yang, Yue; Wang, Ru; Xiao, Jing

2014-01-01

385

Further studies on pulmonary oedema of high altitude. Abnormal responses to hypoxia of men who had developed pulmonary oedema at high altitude.  

PubMed

101 Indian soldiers, 57 of whom had developed pulmonary oedema of high altitude (POHA) and 44 who had not developed this condition in spite of being at high altitudes for over 2 years, were investigated for observing the differences, if any, in their reaction to acute hypoxic stress. Each subject was made to breathe a 10% hypoxic mixture for 5 min. Haemodynamic parameters like pulmonary artery pressure (systolic, diastolic and mean), brachial artery pressure, wedge pressure, cardiac output, minute ventilation, arterial oxygen saturation and oxygen uptake before and at the end of hypoxic breathing were estimated. In addition, results of the cold pressor test were recorded and the Vd/Vt ratio was estimated. The results obtained in the present study confirmed those obtained in our previous studies. In addition, it was observed that oxygen uptake was significantly higher and oxygen saturation lower after hypoxia in the POHA subjects than in the controls. Certain parameters for screening of subjects possibly susceptible to POHA have been suggested. PMID:674869

Viswanathan, R; Subramanian, S; Lodi, S T; Radha, T G

1978-01-01

386

Abnormal Heart Development and Lung Remodeling in Mice Lacking the Hypoxia-Inducible Factor-Related Basic Helix-Loop-Helix PAS Protein NEPAS?  

PubMed Central

Hypoxia-inducible factors (HIFs) are crucial for oxygen homeostasis during both embryonic development and postnatal life. Here we show that a novel HIF family basic helix-loop-helix (bHLH) PAS (Per-Arnt-Sim) protein, which is expressed predominantly during embryonic and neonatal stages and thereby designated NEPAS (neonatal and embryonic PAS), acts as a negative regulator of HIF-mediated gene expression. NEPAS mRNA is derived from the HIF-3? gene by alternative splicing, replacing the first exon of HIF-3? with that of inhibitory PAS. NEPAS can dimerize with Arnt and exhibits only low levels of transcriptional activity, similar to that of HIF-3?. NEPAS suppressed reporter gene expression driven by HIF-1? and HIF-2?. By generating mice with a targeted disruption of the NEPAS/HIF-3? locus, we found that homozygous mutant mice (NEPAS/HIF-3??/?) were viable but displayed enlargement of the right ventricle and impaired lung remodeling. The expression of endothelin 1 and platelet-derived growth factor ? was increased in the lung endothelial cells of NEPAS/HIF-3?-null mice. These results demonstrate a novel regulatory mechanism in which the activities of HIF-1? and HIF-2? are negatively regulated by NEPAS in endothelial cells, which is pertinent to lung and heart development during the embryonic and neonatal stages. PMID:18070924

Yamashita, Toshiharu; Ohneda, Osamu; Nagano, Masumi; Iemitsu, Motoyuki; Makino, Yuichi; Tanaka, Hirotoshi; Miyauchi, Takashi; Goto, Katsutoshi; Ohneda, Kinuko; Fujii-Kuriyama, Yoshiaki; Poellinger, Lorenz; Yamamoto, Masayuki

2008-01-01

387

Correlates of Forced Sex Among Populations of Men Who Have Sex with Men in Thailand  

Microsoft Academic Search

Although forced sex is a correlate of HIV infection, its prevalence and associated risks are not well described among men\\u000a who have sex with men (MSM) in developing-country settings. Between March and October 2005, we assessed the prevalence of\\u000a forced sex and correlates among populations of MSM (this includes general MSM, male sex workers, and male-to-female transgender\\u000a persons) in Thailand

Thomas E. Guadamuz; Wipas Wimonsate; Anchalee Varangrat; Praphan Phanuphak; Rapeepun Jommaroeng; Philip A. Mock; Jordan W. Tappero; Frits van Griensven

2011-01-01

388

The Children's Empathy Quotient and Systemizing Quotient: Sex Differences in Typical Development and in Autism Spectrum Conditions  

ERIC Educational Resources Information Center

Children's versions of the Empathy Quotient (EQ-C) and Systemizing Quotient (SQ-C) were developed and administered to n = 1,256 parents of typically developing children, aged 4-11 years. Both measures showed good test-retest reliability and high internal consistency. As predicted, girls scored significantly higher on the EQ-C, and boys scored…

Auyeung, Bonnie; Wheelwright, Sally; Allison, Carrie; Atkinson, Matthew; Samarawickrema, Nelum; Baron-Cohen, Simon

2009-01-01

389

Sex differences in Parkinson's disease.  

PubMed

Parkinson's disease (PD) displays a greater prevalence and earlier age at onset in men. This review addresses the concept that sex differences in PD are determined, largely, by biological sex differences in the NSDA system which, in turn, arise from hormonal, genetic and environmental influences. Current therapies for PD rely on dopamine replacement strategies to treat symptoms, and there is an urgent, unmet need for disease modifying agents. As a significant degree of neuroprotection against the early stages of clinical or experimental PD is seen, respectively, in human and rodent females compared with males, a better understanding of brain sex dimorphisms in the intact and injured NSDA system will shed light on mechanisms which have the potential to delay, or even halt, the progression of PD. Available evidence suggests that sex-specific, hormone-based therapeutic agents hold particular promise for developing treatments with optimal efficacy in men and women. PMID:24607323

Gillies, Glenda E; Pienaar, Ilse S; Vohra, Shiv; Qamhawi, Zahi

2014-08-01

390

Dietary Omega-3 Fatty Acid Deficiency and High Fructose intake in the Development of Metabolic Syndrome Brain, Metabolic Abnormalities, and Non-Alcoholic Fatty Liver Disease  

PubMed Central

Western diets are characterized by both dietary omega-3 fatty acid deficiency and increased fructose intake. The latter found in high amounts in added sugars such as sucrose and high fructose corn syrup (HFCS). Both a low intake of omega-3 fatty acids or a high fructose intake contribute to metabolic syndrome, liver steatosis or non-alcoholic fatty liver disease (NAFLD), promote brain insulin resistance, and increase the vulnerability to cognitive dysfunction. Insulin resistance is the core perturbation of metabolic syndrome. Multiple cognitive domains are affected by metabolic syndrome in adults and in obese adolescents, with volume losses in the hippocampus and frontal lobe, affecting executive function. Fish oil supplementation maintains proper insulin signaling in the brain, ameliorates NAFLD and decreases the risk to metabolic syndrome suggesting that adequate levels of omega-3 fatty acids in the diet can cope with the metabolic challenges imposed by high fructose intake in Western diets which is of major public health importance. This review presents the current status of the mechanisms involved in the development of the metabolic syndrome, brain insulin resistance, and NAFLD a most promising area of research in Nutrition for the prevention of these conditions, chronic diseases, and improvement of Public Health. PMID:23896654

Simopoulos, Artemis P.

2013-01-01

391

Abnormal development of the locus coeruleus in Ear2(Nr2f6)-deficient mice impairs the functionality of the forebrain clock and affects nociception  

PubMed Central

The orphan nuclear receptor Ear2 (Nr2f6) is transiently expressed in the rostral part of the rhombic lip in which the locus coeruleus (LC) arises. LC development, regulated by a signaling cascade (Mash1 ? Phox2b ? Phox2a), is disrupted in Ear2-/- embryos as revealed by an approximately threefold reduction in the number of Phox2a- and Phox2b-expressing LC progenitor cells. Mash1 expression in the rhombic lip, however, is unaffected, placing Ear2 in between Mash1 and Phox2a/b. Dopamine-?-hydroxylase and tyrosine hydroxylase staining demonstrate that >70% of LC neurons are absent in the adult with agenesis affecting primarily the dorsal division of the LC. Normally, this division projects noradrenergic efferents to the cortex that appear to be diminished in Ear2-/- since the cortical concentration of noradrenaline is four times lower in these mice. The rostral region of the cortex is known to contain a circadian pacemaker regulating adaptability to light- and restricted food-driven entrainment. In situ hybridization establishes that the circadian expression pattern of the clock gene Period1 is abolished in the Ear2-/- forebrain. Behavioral experiments reveal that Ear2 mutants have a delayed entrainment to shifted light-dark cycles and adapt less efficiently to daytime feeding schedules. We propose that neurons in the dorsal division of LC contribute to the regulation of the forebrain clock, at least in part, through targeted release of noradrenaline into the cortical area. PMID:15741322

Warnecke, Marei; Oster, Henrik; Revelli, Jean-Pierre; Alvarez-Bolado, Gonzalo; Eichele, Gregor

2005-01-01

392

Dietary omega-3 fatty acid deficiency and high fructose intake in the development of metabolic syndrome, brain metabolic abnormalities, and non-alcoholic fatty liver disease.  

PubMed

Western diets are characterized by both dietary omega-3 fatty acid deficiency and increased fructose intake. The latter found in high amounts in added sugars such as sucrose and high fructose corn syrup (HFCS). Both a low intake of omega-3 fatty acids or a high fructose intake contribute to metabolic syndrome, liver steatosis or non-alcoholic fatty liver disease (NAFLD), promote brain insulin resistance, and increase the vulnerability to cognitive dysfunction. Insulin resistance is the core perturbation of metabolic syndrome. Multiple cognitive domains are affected by metabolic syndrome in adults and in obese adolescents, with volume losses in the hippocampus and frontal lobe, affecting executive function. Fish oil supplementation maintains proper insulin signaling in the brain, ameliorates NAFLD and decreases the risk to metabolic syndrome suggesting that adequate levels of omega-3 fatty acids in the diet can cope with the metabolic challenges imposed by high fructose intake in Western diets which is of major public health importance. This review presents the current status of the mechanisms involved in the development of the metabolic syndrome, brain insulin resistance, and NAFLD a most promising area of research in Nutrition for the prevention of these conditions, chronic diseases, and improvement of Public Health. PMID:23896654

Simopoulos, Artemis P

2013-08-01

393

Sex Education for Patients  

PubMed Central

Sex education evokes a wide variety of responses in the community and from teachers. Consequently, physicians have a responsibility to present sex education material in a factual, objective way. Many people are misinformed about sexual behavior. Physicians can help patients and the community by being aware of appropriate sex education for each age group. A curriculum for sex education, and opportunities to provide sex information for patients of different ages and stages in the lifecycle, are described. PMID:21274069

Zitner, David

1985-01-01

394

Middle ear abnormalities during natural rhinovirus colds in adults.  

PubMed

To determine middle ear pressure (MEP) changes during natural rhinovirus colds, adults with illness for < or = 3 days were tested by digital tympanometer daily for 5 days (study 1) or every other day for 7 days (study 2). Abnormal MEPs (< -50 or > +20 mm H2O) were found in 72% of 36 patients in study 1 (P < .001, vs. baseline of 11%) and 76% of 55 patients in study 2 (P < .001, vs. 15% of 103 healthy controls). Major abnormalities (> or = +100 or < or = -100 mm H2O) were found in 61% of patients in study 1 (P < .001, vs. baseline of 0) and 47% in study 2 (P < .001, vs. control of 5%). MEP abnormalities usually resolved by day 14. Only 1 subject developed clinically apparent otitis media. Earache or respiratory symptom scores did not correlate with MEP abnormalities. These results indicate that natural rhinovirus colds in adults are frequently associated with marked but transient MEP abnormalities. PMID:8354902

Elkhatieb, A; Hipskind, G; Woerner, D; Hayden, F G

1993-09-01

395

Immune abnormalities in myelodysplastic syndromes.  

PubMed Central

The immune states of 52 patients with myelodysplastic syndromes classified according to the FAB criteria were studied. Serum electrophoresis and immunoelectrophoresis, direct Coombs test, and tests for organ and non-organ specific antibodies were performed. Twenty six patients had immunoglobulin abnormalities: six (11.5%) had monoclonal gammopathy; 17 (32.6%) had polyclonal increases in serum immunoglobulin; while in three (5.8%) immunoglobulin concentrations were decreased. The distribution of immunoglobulin abnormalities among the five myelodysplastic syndrome subtypes was fairly uniform. Results of direct Coombs test were negative in all cases. Organ specific antibodies were not detected in any of the patients tested, although two patients were found positive for antinuclear antibodies. The presence of immunoglobulin abnormalities indicates an involvement of the lymphoplasmatic system in myelodysplastic syndromes. PMID:3928701

Economopoulos, T; Economidou, J; Giannopoulos, G; Terzoglou, C; Papageorgiou, E; Dervenoulas, J; Arseni, P; Hadjioannou, J; Raptis, S

1985-01-01

396

[Hematological abnormalities in rheumatic diseases].  

PubMed

Haematological abnormalities are present in 25-50% patients with rheumatic diseases. The most common finding is anaemia of chronic disease which is driven by inflammatory cytokines. Hepcidin plays key role in iron homeostasis. It reduces iron absorption from duodenum and iron release from reticuloendothelial cells. Anaemia of chronic disease could be successfully treated by recombinant erythropoietin in combination with iron supplementation. Various abnormalities can be observed in the leukocyte and platelets counts. Other haematological disturbances are considered as part of autoimmune disease. Prolonged antigen stimulation can induce lymphomagenesis and lymphoma incidence in patients with rheumatic diseases is 5 to 6-fold increased compared to normal population. PMID:17580549

Radman, Ivo

2006-01-01

397

Effects of glyphosate-based herbicides on survival, development, growth and sex ratios of wood frogs (Lithobates sylvaticus) tadpoles. I: chronic laboratory exposures to VisionMax®.  

PubMed

The purpose of this study was to determine if chronic exposure to the glyphosate-based herbicide VisionMax(®) affects the survival, development, growth, sex ratios and expression of specific genes involved in metamorphosis of wood frog tadpoles (Lithobates sylvaticus). We hypothesized that exposure to this herbicide will affect developmental rates by disrupting hormone pathways, sex ratios and/or gonadal morphology. Tadpoles were chronically exposed in the laboratory from Gosner developmental stage 25 to 42 to four different concentrations of VisionMax(®) (ranging from 0.021 to 2.9 mg acid equivalents/L). Chronic exposures to VisionMax(®) had direct effects on the metamorphosis of L. sylvaticus tadpoles by decreasing development rates, however, there was a decrease in survival only in the group exposed to the highest dose of VisionMax(®) (2.9 mg a.e./L; from approximately 96% in the control group to 77% in the treatment group). There was a decrease in the number of tadpoles reaching metamorphic climax, from 78% in the control group to 42% in the VisionMax(®) (2.9 mg a.e./L) group, and a 7-day delay to reach metamorphic climax in the same treatment group. No effects of exposure on sex ratios or gonadal morphology were detected in tadpoles exposed to any of the concentrations of VisionMax(®) tested. Gene expression analyses in brain and tail tissues demonstrated that exposure to VisionMax(®) alters the expression of key genes involved in development. Results showed significant interaction (two-way ANOVA, P<0.05) between developmental Gosner stage and treatment in brain corticotropin-releasing factor, deiodinase type II (dio2) and glucocorticotiroid receptor (grII) and tail dio2 and grII. This demonstrates that mRNA levels may be differently affected by treatment depending on the developmental stage at which they are assessed. At the same time there was a clear dose-response effect for VisionMax(®) to increase thyroid hormone receptor ? in tadpole brain (F(2,69)=3.475, P=0.037) and tail (F(2,69)=27.569, P<0.001), regardless of developmental stage. Interestingly, delays in development (or survival) were only observed in the group exposed to 2.9 mg a.e./L of VisionMax(®), suggesting that tadpoles need to be exposed to a "threshold" concentration of glyphosate-based herbicide to exhibit phenotypic observable effects. We suggest that the upregulation of genes that trigger metamorphosis following VisionMax(®) herbicide exposure might result from a compensatory response for the delays in development observed. Further studies are needed to determine if disruption of expression of these key genes leads to long-term effects when metamorphs reach adult stages. PMID:24878356

Navarro-Martín, L; Lanctôt, C; Jackman, P; Park, B J; Doe, K; Pauli, B D; Trudeau, V L

2014-09-01

398

Prohibitin overexpression in adipocytes induces mitochondrial biogenesis, leads to obesity development, and affects glucose homeostasis in a sex-specific manner.  

PubMed

Adipocytes are the primary cells in the body that store excess energy as triglycerides. To perform this specialized function, adipocytes rely on their mitochondria; however, the role of adipocyte mitochondria in the regulation of adipose tissue homeostasis and its impact on metabolic regulation is not understood. We developed a transgenic mouse model, Mito-Ob, overexpressing prohibitin (PHB) in adipocytes. Mito-Ob mice developed obesity due to upregulation of mitochondrial biogenesis in adipocytes. Of note, Mito-Ob female mice developed more visceral fat than male mice. However, female mice exhibited no change in glucose homeostasis and had normal insulin and high adiponectin levels, whereas male mice had impaired glucose homeostasis, compromised brown adipose tissue structure, and high insulin and low adiponectin levels. Mechanistically, we found that PHB overexpression enhances the cross talk between the mitochondria and the nucleus and facilitates mitochondrial biogenesis. The data suggest a critical role of PHB and adipocyte mitochondria in adipose tissue homeostasis and reveal sex differences in the effect of PHB-induced adipocyte mitochondrial remodeling on whole-body metabolism. Targeting adipocyte mitochondria may provide new therapeutic opportunities for the treatment of obesity, a major risk factor for type 2 diabetes. PMID:24947361

Ande, Sudharsana R; Nguyen, K Hoa; Padilla-Meier, G Pauline; Wahida, Wahida; Nyomba, B L Grégoire; Mishra, Suresh

2014-11-01

399

Girls' Sexual Development in the Inner City: From Compelled Childhood Sexual Contact to Sex-for-Things Exchanges  

ERIC Educational Resources Information Center

Child Sexual Abuse (CSA) has been linked to a wide variety of adverse psychological and behavioral outcomes. This paper describes girls' sexual development in the inner city based on qualitative material from a long-term ethnographic (observational) study. For many inner-city girls, early and then continued experiences of being compelled to have…

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

2003-01-01

400

Moral Development in the Adolescent Years (with Appendices on Adolescent Drug Use and Abuse and Premarital Sex): Foster Parent Curriculum.  

ERIC Educational Resources Information Center

This instructor's guide for a foster parent curriculum consists of specific curriculum materials for the study of moral development in the adolescent years. The guide is divided into 5 parts: (1) an outline of foster parent competencies (instructional goals) plus suggested teaching strategies; (2) the basic text which gives an overview of the…

Jurich, Anthony P.; Kadel, Kim M.

401

The ecological and evolutionary drivers of female-biased sex ratios: two-sex models of perennial seagrasses.  

PubMed

Among sexually reproducing species, differences between the sexes within species are ubiquitous. Despite the clear effect of sex differences on sex ratios and population growth rates, demographic models rarely consider both sexes explicitly. Here I explore the causes of extreme female-biased sex ratios in two marine angiosperms (Phyllospadix spp.). Using demographic data, I develop two-sex matrix projection models to assess the magnitude of demographic differences necessary to generate observed sex ratios and the consequences of sex differences for population growth rates. I demonstrate that small sex differences in survival can generate biased sex ratios, but the importance of sexual reproduction differs markedly between species. Even in the absence of a direct trade-off between sexual and asexual reproduction, the presence of two reproductive modes affects both the importance of sex and the sex-ratio bias. Using sensitivity analyses, I quantify the contribution of shared and sex-specific vital rates and show that until males become rare, the sensitivity of sex-specific vital rates is small relative to that of shared vital rates. I demonstrate that placing sex differences in the context of a demographic model that includes biologically motivated life-history trade-offs can explain the maintenance of sex-specific life histories and the persistence of skewed sex ratios. PMID:20109068

Shelton, Andrew Olaf

2010-03-01

402

Esophageal motility abnormalities in gastroesophageal reflux disease  

PubMed Central

Esophageal motility abnormalities are among the main factors implicated in the pathogenesis of gastroesophageal reflux disease. The recent introduction in clinical and research practice of novel esophageal testing has markedly improved our understanding of the mechanisms contributing to the development of gastroesophageal reflux disease, allowing a better management of patients with this disorder. In this context, the present article intends to provide an overview of the current literature about esophageal motility dysfunctions in patients with gastroesophageal reflux disease. Esophageal manometry, by recording intraluminal pressure, represents the gold standard to diagnose esophageal motility abnormalities. In particular, using novel techniques, such as high resolution manometry with or without concurrent intraluminal impedance monitoring, transient lower esophageal sphincter (LES) relaxations, hypotensive LES, ineffective esophageal peristalsis and bolus transit abnormalities have been better defined and strongly implicated in gastroesophageal reflux disease development. Overall, recent findings suggest that esophageal motility abnormalities are increasingly prevalent with increasing severity of reflux disease, from non-erosive reflux disease to erosive reflux disease and Barrett’s esophagus. Characterizing esophageal dysmotility among different subgroups of patients with reflux disease may represent a fundamental approach to properly diagnose these patients and, thus, to set up the best therapeutic management. Currently, surgery represents the only reliable way to restore the esophagogastric junction integrity and to reduce transient LES relaxations that are considered to be the predominant mechanism by which gastric contents can enter the esophagus. On that ground, more in depth future studies assessing the pathogenetic role of dysmotility in patients with reflux disease are warranted. PMID:24868489

Martinucci, Irene; de Bortoli, Nicola; Giacchino, Maria; Bodini, Giorgia; Marabotto, Elisa; Marchi, Santino; Savarino, Vincenzo; Savarino, Edoardo

2014-01-01

403

The Colorado Sex Offender Risk Scale.  

ERIC Educational Resources Information Center

Documents the development of an adult sex offender risk assessment tool. A risk scale was developed based upon criminal and therapeutic outcomes of 494 sex offenders. The final risk scale included prior juvenile felony convictions, prior adult felony convictions, victim being intoxicated, denial in therapy, sexual deviance in therapy, and…

English, Kim; Retzlaff, Paul; Kleinsasser, Dennis

2002-01-01

404

CHLORINATION OF DRINKING WATER AND SEX RATIO AT BIRTH IN TAIWAN  

Microsoft Academic Search

Chlorination has been the major strategy for disinfecting drinking water in Taiwan. The objective of the present study was to determine whether the chlorination of drinking water was associated with abnormal sex ratios, an indicator of exposure to pollutants. A \\

2000-01-01

405

Some Aspects of the Psychopathology of Sex Perversions  

PubMed Central

Importance of the study of perversions. Precipitating causes. The attempt to explain them by the association of ideas or by simple conditioned reflex is inadequate. Perversions are found to be the persistence of morbid reactions of infantile life. The sex perversions have the same general causation, and the same mechanism as the other psychoneuroses. The essential factor in causation is the feeling of deprivation of love: this interpreted biologically as well as psychologically. Infantile sensuousness is to be regarded as biologically egoistic and not sexual. Its transference to the uses of sexuality later. The perversions are not the mere persistence of these normal infantile tendencies but are morbid reactions to abnormal situations. These morbid reactions are further repressed, which accounts for the fixation and arrest of sexual development. The precipitating conditions arouse the latent repressed tendencies, which therefore emerge in the form in which they were originally repressed. PMID:19989351

Hadfield, J. A.

1933-01-01

406

In Nicotiana species, an artificial microRNA corresponding to the virulence modulating region of Potato spindle tuber viroid directs RNA silencing of a soluble inorganic pyrophosphatase gene and the development of abnormal phenotypes.  

PubMed

Potato spindle tuber viroid (PSTVd) is a small non-protein-coding RNA pathogen that can induce disease symptoms in a variety of plant species. How PSTVd induces disease symptoms is a long standing question. It has been suggested that PSTVd-derived small RNAs (sRNAs) could direct RNA silencing of a targeted host gene(s) resulting in symptom development. To test this, we expressed PSTVd sequences as artificial microRNAs (amiRNAs) in Nicotiana tabacum and Nicotiana benthamiana. One amiRNA, amiR46 that corresponds to sequences within the PSTVd virulence modulating region (VMR), induced abnormal phenotypes in both Nicotiana species that closely resemble those displayed by PSTVd infected plants. In N. tabacum amiR46 plants, phenotype severity correlated with amiR46 accumulation and expression down-regulation of the bioinformatically-identified target gene, a Nicotiana soluble inorganic pyrophosphatase (siPPase). Taken together, our phenotypic and molecular analyses suggest that disease symptom development in Nicotiana species following PSTVd infection results from sRNA-directed RNA silencing of the host gene, siPPase. PMID:24503090

Eamens, Andrew L; Smith, Neil A; Dennis, Elizabeth S; Wassenegger, Michael; Wang, Ming-Bo

2014-02-01

407

Abnormal Psychology, Spring 2008 1 Psychology 350  

E-print Network

Abnormal Psychology, Spring 2008 1 Psychology 350 Abnormal Psychology Spring 2008 N-101 Tuesdays 4 psychology. By the end of the semester, students will be able to: · Discuss extant models of abnormal in Foundation II.B., Social and Behavioral Sciences required." #12;Abnormal Psychology, Spring 2008 2 Course

Gallo, Linda C.

408

Steganography with Least Histogram Abnormality  

Microsoft Academic Search

A novel steganographic scheme is proposed which avoids asymmetry inherent in conventional LSB embedding techniques so that abnormality in the image histogram is kept minimum. The proposed technique is capable of re- sisting the ?2 test and RS analysis, as well as a new steganalytic method named GPC analysis as introduced in this paper. In the described steganographic tech- nique,

Xinpeng Zhang; Shuozhong Wang; Kaiwen Zhang

2003-01-01

409

Extracellular Matrix Abnormalities in Schizophrenia  

PubMed Central

Emerging evidence points to the involvement of the brain extracellular matrix (ECM) in the pathophysiology of schizophrenia (SZ). Abnormalities affecting several ECM components, including Reelin and chondroitin sulfate proteoglycans (CSPGs), have been described in subjects with this disease. Solid evidence supports the involvement of Reelin, an ECM glycoprotein involved in corticogenesis, synaptic functions and glutamate NMDA receptor regulation, expressed prevalently in distinct populations of GABAergic neurons, which secrete it into the ECM. Marked changes of Reelin expression in SZ have typically been reported in association with GABA-related abnormalities in subjects with SZ and bipolar disorder. Recent findings from our group point to substantial abnormalities affecting CSPGs, a main ECM component, in the amygdala and entorhinal cortex of subjects with schizophrenia, but not bipolar disorder. Striking increases of glial cells expressing CSPGs were accompanied by reductions of perineuronal nets, CSPG- and Reelin-enriched ECM aggregates enveloping distinct neuronal populations. CSPGs developmental and adult functions, including neuronal migration, axon guidance, synaptic and neurotransmission regulation are highly relevant to the pathophysiology of SZ. Together with reports of anomalies affecting several other ECM components, these findings point to the ECM as a key component of the pathology of SZ. We propose that ECM abnormalities may contribute to several aspects of the pathophysiology of this disease, including disrupted connectivity and neuronal migration, synaptic anomalies and altered GABAergic, glutamatergic and dopaminergic neurotransmission. PMID:21856318

Berretta, Sabina

2011-01-01

410

Sex differentiation and sex change in the protandrous black porgy, Acanthopagrus schlegeli.  

PubMed

Protandrous black porgy fish, Acanthopagrus schlegeli, have a striking life cycle with a male sex differentiation at the juvenile stage and male-to-female sex change at 3 years of age. We had characterized the sex differentiation and sex change in this species by the integrative approaches of histology, endocrine and molecular genetics. The fish differentiated in gonad at the age around 4-months and the gonad further developed with a bisexual gonad for almost for 3 years and sex change at 3 year of age. An antagonistic relationship in the testicular and ovarian tissues was found during the development of the gonadal tissue. Male- (such as sf-1, dmrt1, dax-1 and amh) and female- (such as wnt4, foxl2 and cyp19a1a) promoting genes were associated with testicular and ovarian development, respectively. During gonadal sex differentiation, steroidogenic pathway and estrogen signaling were also highly expressed in the brain. The increased expression of sf-1 and wnt4, cyp19a1a in ovarian tissue and decreased expression of dax-1 in the ovarian tissue may play important roles in sex change from a male-to-female. Endocrine factors such as estradiol and luteinizing hormone may also involve in the natural sex change. Estradiol induced the expression of female-promoting genes and resulted in the precocious sex change in black porgy. Our series of studies shed light on the sex differentiation and sex change in protandrous black porgy and other animals. PMID:19917286

Wu, Guan-Chung; Tomy, Sherly; Lee, Mong-Fong; Lee, Yan-Horn; Yueh, Wen-Shiun; Lin, Chien-Ju; Lau, En-Lieng; Chang, Ching-Fong

2010-07-01

411

Assessing Attitude Toward Same-Sex Marriage  

Microsoft Academic Search

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

Pamela J. Lannutti; Kenneth A. Lachlan

2007-01-01

412

Abnormal formation pressure of Qaidam basin and its cause  

SciTech Connect

Qaidam basin is a Mesozoic and Cenozoic inland oil basin where the abnormal formation pressure is as developed as in many offshore regions. The abnormal formation pressures are found at depths below 3200 m in relatively depressed regions. Their pressure gradients are from 0.14 to 0.22 atm/m. The causes of abnormal formation pressure in this region are as follows. (1) Compaction unequilibrium is the principal cause of high pressure. Abnormal pressure occurs not only in the zone of fine-grained rocks, but also in the interbedded strata of sandstone and shales as long as the rate of deposition is rapid enough at the time when abnormal pressure is produced. (2) In this region, an aquathermal pressure effect is also apparent; the geotemperature gradient is 35/sup 0/C/km, and the actual average rate of pore pressure increase since isolation is 0.31 atm/m, significantly higher than 0.23 atm/m of the average overburden pressure gradient. (3) Because there is not any montmorillonite content in some sequences developing abnormal pressure, montmorillonite-illite conversion and dehydration are not prerequisites for the abnormal pressure. In addition, growth faulting of some regions and the volume expansion produced by thermal degradation of organic matter may also enhance the formation pressure.

Hua, B.; Xixiang, L.

1985-02-01

413

Gonadal sex chromosome complement in individuals with sex chromosomal and/or gonadal disorders  

SciTech Connect

Gonadal abnormalities are characteristically seen in patients with sex chromosomal aneuploidy. Morphologically these abnormalities can be variable and are hypothesized to be dependent on the sex chromosomal consititution of the gonad (independent of the chromosomal complement of other tissues, such as peripheral blood lymphocytes). In this study, the gonadal sex chromosome complement was evaluated for potential mosaicism and correlated with the histopathology from 5 patients with known sex chromosomal and/or gonadal disorders. FISH techniques using X and Y chromosome specific probes were performed on nuclei extracted from paraffin embedded tissue. Gonadal tissue obtained from case 1 (a true hemaphroditic newborn) consisted of ovotestes and epididymis (left side) and ovary with fallopian tube (right side). Cytogenetic and FISH studies performed on blood, ovotestes and ovary revealed an XX complement. Cytogenetic analysis of blood from case 2, a 4-year-old with suspected Turner syndrome revealed 45,X/46,X,del(Y)(q11.21). FISH analysis of the resected gonads (histologically = immature testes) confirmed an X/XY mosaic complement. Histologically, the gonadal tissue was testicular. Severe autolysis prohibited successful analysis in the 2 remaining cases. In summary, molecular cytogenetic evaluation of gonadal tissue from individuals with sex chromosomal and/or gonadal disorders did not reveal tissue-specific anomalies which could account for differences observed pathologically.

Bridge, J.A.; Sanger, W.G.; Seemayer, T. [Univ. of Nebraska Medical Center, Omaha, NE (United States)] [and others

1994-09-01

414

Long-term sex reversal by oestradiol in amniotes with heteromorphic sex chromosomes  

PubMed Central

Oestradiol application during embryonic development reverses the sex of male embryos and results in normal female differentiation in reptiles lacking heteromorphic sex chromosomes, but fails to do so in birds and mammals with heteromorphic sex chromosomes. It is not clear whether the evolution of heteromorphic sex chromosomes in amniotes is accompanied by insensitivity to oestradiol, or if the association between oestradiol insensitivity and heteromorphic sex chromosomes can be attributable to phylogenetic constraints in these taxa. Turtles provide an ideal system to examine the potential relationship between oestradiol insensitivity and sex chromosome heteromorphy, since there are species with heteromorphic sex chromosomes that are closely related to species lacking heteromorphic sex chromosomes. We investigated this relationship by examining the long-term effects of oestradiol-17? application on sex determination in Staurotypus triporcatus and Staurotypus salvinii, two turtle species with male heterogamety. After raising the turtles in the lab for 3 years, we found follicular and Müllerian duct morphology in oestradiol-treated turtles that was identical to that of untreated females. The lasting sex reversal suggests that the evolutionary transition between systems lacking heteromorphic sex chromosomes and those with heteromorphic sex chromosomes is not constrained by a fundamental mechanistic difference. PMID:17148408

Freedberg, Steven; Bowden, Rachel M; Ewert, Michael A; Sengelaub, Dale R; Nelson, Craig E

2006-01-01

415

The platelet-derived growth factor signaling system in snapping turtle embryos, Chelydra serpentina: potential role in temperature-dependent sex determination and testis development  

PubMed Central

The platelet-derived growth factor (Pdgf) signaling system is known to play a significant role during embryonic and postnatal development of testes in mammals and birds. In contrast, genes that comprise the Pdgf system in reptiles have never been cloned or studied in any tissue, let alone developing gonads. To explore the potential role of PDGF ligands and their receptors during embryogenesis, we cloned cDNA fragments of Pdgf-A, Pdgf-B, and receptors PdgfR-? and PdgfR-? in the snapping turtle, a reptile with temperature-dependent sex determination (TSD). We then compared gene expression profiles in gonads from embryos incubated at a male-producing temperature to those from embryos at a female-producing temperature, as well as between hatchling testes and ovaries. Expression of Pdgf-B mRNA in embryonic gonads was significantly higher at a male temperature than at a female temperature, but there was no difference between hatchling testes and ovaries. This developmental pattern was reversed for Pdgf-A and PdgfR-? mRNA: expression of these genes did not differ in embryos, but diverged in hatchling testes and ovaries. Levels of PdgfR-? mRNA in embryonic gonads were not affected by temperature and did not differ between testes and ovaries. However, expression of both receptors increased at least an order of magnitude from the embryonic to the post-hatching period. Finally, we characterized expression of these genes in several other embryonic tissues. The brain, heart, and liver displayed unique expression patterns that distinguished these tissues from each other and from intestine, lung, and muscle. Incubation temperature had a significant effect on expression of PdgfR-? and PdgfR-? in the heart but not other tissues. Together, these findings demonstrate that temperature has tissue specific effects on the Pdgf system and suggest that Pdgf signaling is involved in sex determination and the ensuing differentiation of testes in the snapping turtle. PMID:19523392

Rhen, Turk; Jangula, Adam; Schroeder, Anthony; Woodward-Bosh, Rikki

2009-01-01

416

Sex, hormones, and stress: How they impact development and function of the carotid bodies and related reflexes?  

PubMed Central

Progesterone and corticosterone are key modulators of the respiratory control system. While progesterone is widely recognized as an important respiratory stimulant in adult and newborn animals, much remains to be described regarding the underlying mechanisms. We review the potential implication of nuclear and membrane progesterone receptors in adults and in newborns. This raises intriguing questions regarding the contribution of progesterone as a protective factor against some respiratory control disorders during early life. We then discuss our current understanding of the central integration of stressful stimuli and the responses they elicit. The fact that this system interacts with the respiratory control system, either because both share some common neural pathways in the brainstem and hypothalamus, or because corticosterone directly modulates the function of the respiratory control network, is a fascinating field of research that has emerged over the past few years. Finally, we review the short- and long-term consequences of disruption of stress circuitry during postnatal development on these systems. PMID:22781657

Joseph, Vincent; Behan, Mary; Kinkead, Richard

2013-01-01

417

Preferential Detachment During Human Brain Development: Age- and Sex-Specific Structural Connectivity in Diffusion Tensor Imaging (DTI) Data  

E-print Network

Human brain maturation is characterized by the prolonged development of structural and functional properties of large-scale networks that extends into adulthood. However, it is not clearly understood which features change and which remain stable over time. Here, we examined structural connectivity based on diffusion tensor imaging (DTI) in 121 participants between 4 and 40 years of age. DTI data were analyzed for small-world parameters, modularity, and the number of fiber tracts at the level of streamlines. First, our findings showed that the number of fiber tracts, small-world topology, and modular organization remained largely stable despite a substantial overall decrease in the number of streamlines with age. Second, this decrease mainly affected fiber tracts that had a large number of streamlines, were short, within modules and within hemispheres; such connections were affected significantly more often than would be expected given their number of occurrences in the network. Third, streamline loss occurred...

Lim, Sol; Uhlhaas, Peter J; Kaiser, Marcus

2014-01-01

418

Sex with sex workers among latino day laborers in Suburban Maryland.  

PubMed

Using the structural-environmental conceptual framework, this study employed mixed methods to address the question of whether sex with female sex workers contributes to HIV risk among male immigrant Latino day laborers in suburban Maryland. Because contextual factors can greatly affect HIV risk for both sex workers and their clients, this study investigated the organizational structure of sex work, factors that predicted men's hiring of sex workers, sexual behaviors performed with sex workers, and the use of condoms. Qualitative research was conducted to inform the development of a quantitative survey, but also provided crucial descriptions about the motivations, locations, arrangements, and sexual activities related to sex work. Key informant interviews (N = 10), in-depth interviews with day laborers (N = 10) and Latina female sex workers (N = 4), and two focus groups with day laborers (N = 11) were conducted, and a quantitative survey administered via Audio-enhanced Computer-assisted Self-interviewing (N = 174). Condom use was nearly universal in encounters with female sex workers, thus indicating that the sex workers were not an important source of HIV transmission in this context. Logistic regression was performed to test a model predicting sex with sex workers. Latino day laborers who reported more immigrant stress and who did not have a partner in the U.S. were more likely to have had sex with a sex worker, as were men who reported binge drinking. Structural and social conditions influenced the hiring of sex workers. Further research is warranted to better understand the interrelationships among these circumstances and to inform the development of programs to address them. PMID:23070528

Bianchi, Fernanda T; Reisen, Carol A; Gonzales, Felisa A; Arroyo, Juan C; Zea, Maria Cecilia; Poppen, Paul J

2013-07-01

419

Perceived Personnel Suitability: A Function of Job Sex Type, Sex Role, and Sex.  

ERIC Educational Resources Information Center

Descriptions varying sex and sex role of job applicants were rated by 605 respondents for suitability for four sex-typed jobs. Results show sex role by job type interaction. A pattern in which sex roles and sex complement each other is noted and interpreted in the context of the positive perception of androgynous applicants in sex role literature.…

Koenig, Esther J.; Juni, Samuel

1985-01-01

420

Cell-autonomous sex determination outside of the gonad  

PubMed Central

The classic model of sex determination in mammals states that the sex of the individual is determined by the type of gonad that develops, which in turn determines the gonadal hormonal milieu that creates sex differences outside of the gonads. However, XX and XY cells are intrinsically different because of the cell-autonomous sex-biasing action of X and Y genes. Recent studies of mice, in which sex chromosome complement is independent of gonadal sex, reveal that sex chromosome complement has strong effects contributing to sex differences in phenotypes such as metabolism. Adult mice with two X chromosomes (relative to mice with one X chromosome) show dramatically greater increases in body weight and adiposity after gonadectomy, irrespective of their gonadal sex. When fed a high fat diet, XX mice develop striking hyperinsulinemia and fatty liver, relative to XY mice. The sex chromosome effects are modulated by the presence of gonadal hormones, indicating an interaction of the sex-biasing effects of gonadal hormones and sex chromosome genes. Other cell-autonomous sex chromosome effects are detected in mice in many phenotypes. Birds (relative to eutherian mammals) are expected to show more widespread cell-autonomous sex determination in non-gonadal tissues, because of ineffective sex chromosome dosage compensation mechanisms. PMID:23361913

Arnold, Arthur P.; Chen, Xuqi; Link, Jenny C.; Itoh, Yuichiro; Reue, Karen

2013-01-01

421

Sex Education: Another View  

ERIC Educational Resources Information Center

The mother of a 14-year-old mentally retarded boy comments on the viewpoints of Dr. Sol Gordon (a sex education columnist) regarding masturbation, questions on sex, marriage, and the parents' role. (SBH)

Hamilton, Jennifer

1977-01-01

422

Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy  

Microsoft Academic Search

The effect of maternal age on the incidence of chromosomally normal spontaneous abortion and different categories of chromosome abnormality among all clinically recognized human pregnancies was evaluated. The results provide no evidence for a significant association of age with sex chromosome monosomy or polyploidy, but clearly demonstrate an effect of age on the frequency of trisomy and chromosomally normal spontaneous

T. Hassold; D. Chiu

1985-01-01

423

Incidence at birth of different types of limb reduction abnormalities in Hungary 1975–1977  

Microsoft Academic Search

Congenital limb reduction abnormalities have been reported in Hungary since 1970. A clinical and genetic study was made of 274 cases reported from 1975 to 1977, corresponding to a total number of 561915 births. A classification according to type of defect, involvement of one or more limbs and other associated defects is attempted. Data on incidence, sex ratio, laterality and

Mária Bod; A. Czeizel; W. Lenz

1983-01-01

424

Brain structure abnormalities in adolescent girls with conduct disorder  

PubMed Central

Background Conduct disorder (CD) in female adolescents is associated with a range of negative outcomes, including teenage pregnancy and antisocial personality disorder. Although recent studies have documented changes in brain structure and function in male adolescents with CD, there have been no neuroimaging studies of female adolescents with CD. Our primary objective was to investigate whether female adolescents with CD show changes in grey matter volume. Our secondary aim was to assess for sex differences in the relationship between CD and brain structure. Methods Female adolescents with CD (n = 22) and healthy control participants matched in age, performance IQ and handedness (n = 20) underwent structural magnetic resonance imaging. Group comparisons of grey matter volume were performed using voxel-based morphometry. We also tested for sex differences using archive data obtained from male CD and control participants. Results Female adolescents with CD showed reduced bilateral anterior insula and right striatal grey matter volumes compared with healthy controls. Aggressive CD symptoms were negatively correlated with right dorsolateral prefrontal cortex volume, whereas callous-unemotional traits were positively correlated with bilateral orbitofrontal cortex volume. The sex differences analyses revealed a main effect of diagnosis on right amygdala volume (reflecting reduced amygdala volume in the combined CD group relative to controls) and sex-by-diagnosis interactions in bilateral anterior insula. Conclusions We observed structural abnormalities in brain regions involved in emotion processing, reward and empathy in female adolescents with CD, which broadly overlap with those reported in previous studies of CD in male adolescents. PMID:23082797

Fairchild, Graeme; Hagan, Cindy C; Walsh, Nicholas D; Passamonti, Luca; Calder, Andrew J; Goodyer, Ian M

2013-01-01

425

Sex-dependent effect of a low neurosteroid environment and intrauterine growth restriction on foetal guinea pig brain development.  

PubMed

Progesterone and its neuroactive metabolite, allopregnanolone, are present in high concentrations during pregnancy, but drop significantly following birth. Allopregnanolone influences foetal arousal and enhances cognitive and behavioural recovery following traumatic brain injury. Inhibition of allopregnanolone synthesis increases cell death in foetal animal brains with experimental hypoxia. We hypothesised that complications during pregnancy, such as early or preterm loss of placental steroids and intrauterine growth restriction (IUGR), would disrupt the foetal neurosteroid system, contributing to poor neurodevelopmental outcomes. This study aimed to investigate the effects of chronic inhibition of allopregnanolone synthesis before term and IUGR on developmental processes in the foetal brain. Guinea pig foetuses were experimentally growth restricted at mid-gestation and treated with finasteride, an inhibitor of allopregnanolone synthesis. Finasteride treatment reduced foetal brain allopregnanolone concentrations by up to 75% and was associated with a reduction in myelin basic protein (MBP) (P = 0.001) and an increase in glial fibrillary acidic protein expression in the subcortical white matter brain region (P < 0.001). IUGR resulted in decreased MBP expression (P < 0.01) and was associated with a reduction in the expression of steroidogenic enzyme 5?-reductase (5?R) type 2 in the foetal brain (P = 0.061). Brain levels of 5?R1 were higher in male foetuses (P = 0.008). Both IUGR and reduced foetal brain concentrations of allopregnanolone were associated with altered expression of myelination and glial cell markers within the developing foetal brain. The potential role of neurosteroids in protecting and regulating neurodevelopmental processes in the foetal brain may provide new directions for treatment of neurodevelopmental disorders in infants who are exposed to perinatal insults and pathologies. PMID:21149437

Kelleher, Meredith A; Palliser, Hannah K; Walker, David W; Hirst, Jonathan J

2011-03-01

426

Sex-specific gene expression in early life stage fathead minnows (Pimephales promelas) throughout development and after exposure to synthetic hormones  

EPA Science Inventory

There is evidence that exposure to endocrine disrupting chemicals (EDCs) during early life stages can alter sex differentiation in fishes. Fathead minnows (Pimephales promelas) are commonly used as a model fish species in endocrine disruption studies. However, limited knowledge...

427

Sex Differences in Politicization  

Microsoft Academic Search

The finding of significant preadult sex differences in politicization earlier by Owen and Dennis (1988) is explored further. Here, we examine the relationship between sex roles, mass media use, and preadult politicization. Using data from a study of 10-17 year olds in Wisconsin in the early 1980s, we discover significant sex differences in patterns of mass media use that favor

Diana Owen; Jack Dennis

1993-01-01

428

Sex Education. Chapter Seventeen.  

ERIC Educational Resources Information Center

Information and a framework that permits teachers to plan and initiate a successful sex education program for students with mental disabilities is provided. A major aspect of sex education should be its focus on social relationships, emotions, choi