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1

Mental development of unselected children with sex chromosome abnormalities  

Microsoft Academic Search

Twenty-five children with sex chromosome aberrations found among 11000 consecutively newborn children from 1969 to 1974 have been followed with psychologicalpsychiatric examinations at four different times from the age of 1 year till the ages of 7 to 11. The results of the follow-up studies are presented, and it is concluded that diagnosis of sex chromosome aberrations at birth or

J. Nielsen; A. M. Sørensen; K. Sørensen

1981-01-01

2

Abnormal human sex chromosome constitutions  

SciTech Connect

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

NONE

1993-12-31

3

The XXXXY sex chromosome abnormality.  

PubMed

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

BARR, M L; CARR, D H; POZSONYI, J; WILSON, R A; DUNN, H G; JACOBSON, T S; MILLER, J R; LEWIS, M; CHOWN, B

1962-10-27

4

Baseline sacroiliac joint magnetic resonance imaging abnormalities and male sex predict the development of radiographic sacroiliitis.  

PubMed

We evaluated the relationship between the baseline sacroiliac joint (SIJ) magnetic resonance imaging (MRI) findings and the development of radiographic sacroiliitis and tested their prognostic significance in cases of ankylosing spondylitis. Patients who had undergone an SIJ MRI at the rheumatology department were identified. Individuals for whom pelvic X-rays were available after at least 1 year of MRI were included in the analysis. All radiographs and MRI examinations were scored by two independent readers. Medical records of the patients were reviewed to obtain potentially relevant demographic and clinical data. We identified 1,069 SIJ MRIs, and 328 fulfilled our inclusion criteria. Reliability analysis revealed moderate to good inter- and intra-observer agreement. On presentation data, 14 cases were excluded because they had unequivocal radiographic sacroiliitis at baseline. After a mean of 34.8 months of follow-up, 24 patients developed radiographic sacroiliitis. The presence of active sacroiliitis (odds ratio (OR) 15.1) and structural lesions on MRI (OR 8.3), male sex (OR 4.7), fulfillment of Calin's inflammatory back pain criteria (P = 0.001), and total MRI activity score (P < 0.001) were found to be related to the development of radiographic sacroiliitis. By regression modeling, the presence of both active inflammatory and structural damage lesions on MRI and male sex were found to be predictive factors for the development of radiographic sacroiliitis. Our present results suggest that the occurrence of both active inflammatory and structural lesions in SIJs revealed by MRI is a significant risk factor for radiographic sacroiliitis, especially in male patients with early inflammatory back pain. PMID:23765093

Akar, Servet; Isik, Sibel; Birlik, Bilge; Solmaz, Dilek; Sari, Ismail; Onen, Fatos; Akkoc, Nurullah

2013-10-01

5

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

6

Cognitive and academic skills in children with sex chromosome abnormalities  

Microsoft Academic Search

Forty-six unselected children with various sex chromosome abnormalities (14 boys with 47,XXY, 4 boys with 47,XYY, 11 girls with 47,XXX, 9 girls with 45,X, and 8 girls with SCA mosaicism), identified through the consecutive chromosome screening of 40,000 Denver newborns, have been followed developmentally and evaluated in a protocol that included intellectual, language, and achievement testing. Controls consisted of 12

Bruce G. Bender; Mary Linden; Arthur Robinson

1991-01-01

7

Follow-up till age 3–4 of unselected children with sex chromosome abnormalities  

Microsoft Academic Search

Follow-up examination of 15 unselected children with aneuploid sex chromosome abnormalities has been made till between the age of 21\\/2 and 5 years. The mental development of the 15 children was in all cases within the normal range, but there was a tendency to some differences compared with their siblings.

Johannes Nielsen; Ingelise Sillesen

1976-01-01

8

Abnormal sex ratios in human populations: causes and consequences.  

PubMed

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

Hesketh, Therese; Xing, Zhu Wei

2006-09-01

9

Molecular Genetics of the Posterior Sex Combs/Suppressor 2 of Zeste Region of Drosophila: Aberrant Expression of the Suppressor 2 of Zeste Gene Results in Abnormal Bristle Development  

PubMed Central

We report the molecular characterization of the Posterior sex combs-Suppressor 2 of zeste region of Drosophila melanogaster. The distal breakpoint of the Aristapedioid inversion divides the region into two parts. We have molecularly mapped the lesions associated with several loss of function mutations in the Polycomb group gene Posterior sex combs (Psc) proximal to this breakpoint. In addition, we have found that lesions associated with several loss of function mutations in the Suppressor 2 of zeste [Su(z)2] gene lie distal to this breakpoint. Since the breakpoint does not cause a loss of function in either gene, no essential sequences are shared by these two neighboring genes. There are three dominant gain of function mutations in the region that result in abnormal bristle development. We find that all three juxtapose foreign DNA sequences upstream of the Su(z)2 gene, and that at least two of these mutations (Arp(1) and vg(D)) behave genetically as gain of function mutations in Su(z)2. Northern and in situ hybridization analyses show that the mutations result in increased accumulation of the Su(z)2 mRNA, which we argue is responsible for the bristle loss phenotype. PMID:1905661

Brunk, B. P.; Martin, E. C.; Adler, P. N.

1991-01-01

10

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

11

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

ERIC Educational Resources Information Center

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

Walzer, Stanley

1985-01-01

12

Disorders of sex development: neonatal diagnosis and management.  

PubMed

The disorders of sex development (DSD) refer to the insufficient virilization of the external genitalia of a 46,XY fetus or the excessive virilization of those of the 46,XX fetus. Some of these disorders are associated with karyotype abnormalities. DSD arise from abnormal gonadal determination or sex differentiation, as in the case of the abnormal testosterone synthesis or androgen insensitivity of 46,XY DSD. The impact of environmental endocrine disrupting chemicals during fetal life requires further investigation. The basic investigations should include SRY gene sequencing and measurement of 17-hydroxyprogesterone, anti-Mullerian hormone, and testosterone. Choosing the sex of rearing is difficult and the decision must be made by an experienced multidisciplinary team. PMID:22846521

Paris, Françoise; Gaspari, Laura; Philibert, Pascal; Maïmoun, Laurent; Kalfa, Nicolas; Sultan, Charles

2012-01-01

13

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

E-print Network

organs mature & secondary sex characteristics appear Differences in hair growth, change in fat1 Development of Reproductive Anatomy I. Development of sex organs: overview II. All the same Development of sex organs: overview Sex determination occurs first in the gonads and is followed

Dever, Jennifer A.

14

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

15

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

MedlinePLUS

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

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

Patterns of hippocampal abnormalities in malformations of cortical development  

PubMed Central

Objective To assess whether different types of malformation of cortical development (MCD) are associated with specific patterns of hippocampal abnormalities. Methods A total of 122 consecutive patients with MRI diagnosis of MCD (53 males, age range 1–58 years) were included in the study. Hippocampal measurements were made on 1–3?mm coronal T1?weighted MRIs and compared with MRIs of normal controls. Results A total of 39 patients had focal cortical dysplasia, 5 had hemimegalencephaly, 5 had lissencephaly?agyria?pachygyria, 11 had SLH, 11 had PNH, 12 had bilateral contiguous PNH, 5 had schizencephaly, and 34 had polymicrogyria. The frequency of hippocampal abnormalities in these patients with MCD was 29.5%. A small hippocampus was present in all types of MCD. Only patients with lissencephaly and SLH had an enlarged hippocampus. Abnormalities in hippocampal rotation and shape were present in all types of MCD; however, these predominated in PNH. None of the patients with lissencephaly?agyria?pachygyria or SLH had hyperintense signal on T2 or FLAIR images or abnormal hippocampal internal architecture. Conclusion A small hippocampus was present in all types of MCD; however, the classic MRI characteristics of hippocampal sclerosis were often lacking. Abnormal enlargement of the hippocampus was associated with only diffuse MCD due to abnormal neuronal migration (lissencephaly?agyria?pachygyria and SLH). PMID:16484646

Montenegro, M A; Kinay, D; Cendes, F; Bernasconi, A; Bernasconi, N; Coan, A C; Li, L M; Guerreiro, M M; Guerreiro, C A M; Lopes?Cendes, I; Andermann, E; Dubeau, F; Andermann, F

2006-01-01

18

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

ERIC Educational Resources Information Center

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

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

2008-01-01

19

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

PubMed Central

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

Miles, Charles P.

1962-01-01

20

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

PubMed Central

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

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

2013-01-01

21

Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice.  

PubMed

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

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

2013-11-01

22

Mammalian sex determination and gonad development.  

PubMed

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

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

2013-01-01

23

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

PubMed

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

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

2014-07-01

24

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

PubMed Central

The organizational action of testosterone during critical periods of development is the cause of numerous sex differences in the brain. However, sex differences in neuritogenesis have been detected in primary neuronal hypothalamic cultures prepared before the peak of testosterone production by fetal testis. In the present study we assessed the hypothesis of that cell-autonomous action of sex chromosomes can differentially regulate the expression of the neuritogenic gene neurogenin 3 (Ngn3) in male and female hypothalamic neurons, generating sex differences in neuronal development. Neuronal cultures were prepared from male and female E14 mouse hypothalami, before the fetal peak of testosterone. Female neurons showed enhanced neuritogenesis and higher expression of Ngn3 than male neurons. The silencing of Ngn3 abolished sex differences in neuritogenesis, decreasing the differentiation of female neurons. The sex difference in Ngn3 expression was determined by sex chromosomes, as demonstrated using the four core genotypes mouse model, in which a spontaneous deletion of the testis-determining gene Sry from the Y chromosome was combined with the insertion of the Sry gene onto an autosome. In addition, the expression of Ngn3, which is also known to mediate the neuritogenic actions of estradiol, was increased in the cultures treated with the hormone, but only in those from male embryos. Furthermore, the hormone reversed the sex differences in neuritogenesis promoting the differentiation of male neurons. These findings indicate that Ngn3 mediates both cell-autonomous actions of sex chromosomes and hormonal effects on neuritogenesis. PMID:25071448

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

2014-01-01

25

Sex differences in intellectual and ego development in late adolescence  

Microsoft Academic Search

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

Kip C. Alishio; Karen Maitland Schilling

1984-01-01

26

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

27

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

28

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.

29

Normal and abnormal spine and thoracic cage development  

PubMed Central

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

Canavese, Federico; Dimeglio, Alain

2013-01-01

30

Maternal immune activation and abnormal brain development across CNS disorders.  

PubMed

Epidemiological studies have shown a clear association between maternal infection and schizophrenia or autism in the progeny. Animal models have revealed maternal immune activation (mIA) to be a profound risk factor for neurochemical and behavioural abnormalities in the offspring. Microglial priming has been proposed as a major consequence of mIA, and represents a critical link in a causal chain that leads to the wide spectrum of neuronal dysfunctions and behavioural phenotypes observed in the juvenile, adult or aged offspring. Such diversity of phenotypic outcomes in the mIA model are mirrored by recent clinical evidence suggesting that infectious exposure during pregnancy is also associated with epilepsy and, to a lesser extent, cerebral palsy in children. Preclinical research also suggests that mIA might precipitate the development of Alzheimer and Parkinson diseases. Here, we summarize and critically review the emerging evidence that mIA is a shared environmental risk factor across CNS disorders that varies as a function of interactions between genetic and additional environmental factors. We also review ongoing clinical trials targeting immune pathways affected by mIA that may play a part in disease manifestation. In addition, future directions and outstanding questions are discussed, including potential symptomatic, disease-modifying and preventive treatment strategies. PMID:25311587

Knuesel, Irene; Chicha, Laurie; Britschgi, Markus; Schobel, Scott A; Bodmer, Michael; Hellings, Jessica A; Toovey, Stephen; Prinssen, Eric P

2014-11-01

31

Sex determination of duck embryos: observations on syrinx development  

USGS Publications Warehouse

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

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

2013-01-01

32

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

33

Development of Abnormality Detection System for Bathers using Ultrasonic Sensors  

Microsoft Academic Search

This paper proposes an abnormality detection system for bather sitting in bathtub. Increasing number of in-bathtub drowning accidents in Japan draws attention. Behind this large number of bathing accidents, Japan's unique social and cultural background come surface. For majority of people in Japan, bathing serves purpose in deep warming up of body, relax and enjoyable time. Therefore it is the

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

2006-01-01

34

Development of Abnormality Detection System for Bathers using Ultrasonic Sensors  

NASA Astrophysics Data System (ADS)

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

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

35

Ant workers selfishly bias sex ratios by manipulating female development.  

PubMed

Kin selection theory predicts that social insects should perform selfish manipulations as a function of colony genetic structure. We describe a novel mechanism by which this occurs. First, we use microsatellite analyses to show that, in a population of the ant Leptothorax acervorum, workers' relatedness asymmetry (ratio of relatedness to females and relatedness to males) is significantly higher in monogynous (single-queen) colonies than in polygynous (multiple-queen) colonies. Workers rear mainly queens in monogynous colonies and males in polygynous colonies. Therefore, split sex ratios in this population are correlated with workers' relatedness asymmetry. Together with significant female bias in the population numerical and investment sex ratios, this finding strongly supports kin-selection theory. Second, by determining the primary sex ratio using microsatellite markers to sex eggs, we show that the ratio of male to female eggs is the same in both monogynous and polygynous colonies and equals the overall ratio of haploids (males) to diploids (queens and workers) among adults. In contrast to workers of species with selective destruction of male brood, L. acervorum workers therefore rear eggs randomly with respect to sex and must achieve their favoured sex ratios by selectively biasing the final caste (queen or worker) of developing females. PMID:11798433

Hammond, R L; Bruford, M W; Bourke, A F G

2002-01-22

36

Recent developments in embryo sexing and its field application  

E-print Network

Review Recent developments in embryo sexing and its field application Peter Bredbacka Finnish embryos in commercial situations with emphasis on new developments. Simplifications of the biopsy technique is one of the major simplifications over the last few years. The stabilization of the embryo

Paris-Sud XI, Université de

37

Ablation of paternal accessory sex glands imparts physical and behavioural abnormalities to the progeny: an in vivo study in the golden hamster.  

PubMed

The functional significance of male accessory sex glands (ASG) remains unclear. This study explored their importance in reproduction. In previous investigations, embryos sired by males with ASG either totally or partially removed had a shift in the cell cycle and delayed cleavage during preimplantation development, higher incidence of apoptosis, early oviductal-uterine transit, higher proportion of embryo degeneration, lower implantation rate, and ultimately reduced fertility and fecundity. Some pups were born alive; but would they be normal? We hypothesized that the first generation offspring (F1) could also bear undesirable traits. To test our hypothesis, we raised and studied these F1 pups from birth to 8 weeks. We monitored physical growth and assessed behaviour such as nest patch odor preference, acoustic startle response (ASR) and exploratory activity. We detected deviations from the norm in physical growth, a premature cessation of nest patch odor preferences, accelerated acoustic startle habituation and more frequent rearing when exposed to a novel environment. In terms of structure, we found one incidence of diphallus with duplicated urethra. We concluded that sperm lacking contact with ASG secretions gave rise to progeny with abnormal traits. PMID:17597198

Wong, C L; Lee, K H; Lo, K M; Chan, O C; Goggins, W; O, W S; Chow, P H

2007-09-01

38

Sex differences in identity and intimacy development in college youth  

Microsoft Academic Search

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

James W. Hodgson; Judith L. Fischer

1979-01-01

39

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

40

Assessing Sex Role Development of Kindergarten Mexican-American Boys.  

ERIC Educational Resources Information Center

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

Sultemeier, Barbara

41

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

42

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

ERIC Educational Resources Information Center

Increase in sex-role knowledge represents an early stage of the development of sex role stereotypes in children, which is followed by a decrease in the extent of sex-role discrimination. This process is related to the acquisition of classificatory skills. Groups of children aged 4-10 years were tested for their sex role stereotypes and…

Trautner, H. M.; And Others

43

Sex identification and software development using digital femoral head radiographs.  

PubMed

The determination of sex is considered one of the first essential steps in positive identification. The current study aspires to accomplish a threefold purpose: to develop an easy and rapid sex determination technique using digital radiographs from the proximal epiphysis of the femur, to develop a simplified tool for pathologists that will provide accurate sex identification using radiographs and to compare this method with standard osteometric techniques applied to the same population. A total of 70 (36 males and 34 females) left femora were measured according to standard osteometric techniques. The proximal epiphyses of the same sample were then radiographed using a digital X-ray machine (TCA 4R PLUS). The skeletal remains were selected from the exhumed skeletons of St. Konstantinos and Pateles Cemeteries, Heraklion, Crete. Nine classical measurements were taken from the entire dry femora. Stepwise discriminant function analysis selected only 2 dimensions (maximum head diameter and anterior-posterior midshaft diameter) producing an accuracy rate of 88.6% for both original and cross-validated data. If assuming that only the proximal part of the femur is present, direct procedure results in 87.1% correct group membership. Six landmarks were selected in the radiograph and 15 variables representing all possible combinations of these landmarks were calculated using a specially designed calibrated Java program. Measurements were submitted to discriminant function analysis using SPSS subroutines. Stepwise discriminant function analysis selected only 3 out of 15 dimensions, producing an accuracy rate of 92.9%. The formula generated was then incorporated into the Java application, resulting in the development of a sex identification software (SIS). A sample of 36 (23 left and 13 right) femoral radiographs was used in order to test the software's reliability and sex was correctly identified in 32/36 cases, giving an accuracy rate of 91.7%. The radiographic technique proposed here performed better compared to conventional methods in the same population. From a forensic point of view it is a useful alternative method when semi-decomposed or charred remains are recovered in mass disasters or crime scenes and maceration is not an option. The application of metric methods in radiographs and the development of a highly specific software provides a useful and easy tool for sex identification that can be used in certain forensic cases in which osteometry does not apply. PMID:19443150

Kranioti, Elena F; Vorniotakis, Nikolaos; Galiatsou, Christianna; I?can, Mehmet Y; Michalodimitrakis, Manolis

2009-08-10

44

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

Microsoft Academic Search

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

D. Bruce Carter; Charlotte J. Patterson

1982-01-01

45

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

ERIC Educational Resources Information Center

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

Etaugh, Claire; Duits, Terri L.

46

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

PubMed Central

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

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

2013-01-01

47

CELLULAR AND MOLECULAR MECHANISMS OF ABNORMAL REPRODUCTIVE DEVELOPMENT  

EPA Science Inventory

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

48

Abnormal brain development in newborns with congenital heart disease  

Microsoft Academic Search

BACKGROUND: Congenital heart disease in newborns is associated with global impairment in development. We characterized brain metabolism and microstructure, as measures of brain maturation, in newborns with congenital heart disease before they underwent heart surgery. METHODS: We studied 41 term newborns with congenital heart disease--29 who had transposition of the great arteries and 12 who had single-ventricle physiology--with the use

S Miller; P McQuillen; S Hamrick; D Xu; D Glidden; N Charlton; T Karl; A Azakie; D Ferriero; A Barkovich; D Vigneron

2007-01-01

49

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

Microsoft Academic Search

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

Henry M. Ray

1947-01-01

50

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.

51

Association between an abnormal cerebroplacental ratio and the development of severe pre-eclampsia.  

PubMed

Objective:To study the association between the cerebroplacental ratio (CPR) and the development of pre-eclampsia.Study Design:Three study groups were determined: Group 1-normal umbilical artery (UA; referent), Group 2-abnormal UA and normal CPR and Group 3-abnormal UA and an abnormal CPR. The primary outcome was the development of severe pre-eclampsia.Results:We included 270 women. Women in Group 3 had significantly elevated rates of severe pre-eclampsia versus those in Group 1 and Group 2, 52.5% versus 5.1% and 15.4%, respectively, (P<0.01), adjusted odds ratio 4.14 (95% confidence interval, 2.59 to 6.61). Kaplan-Meier analysis revealed earlier delivery in women with pre-eclampsia in Group 3 versus Group 1, Cox-Mantel hazard ratio 2.39 (1.17 to 4.88), log rank P=0.01.Conclusion:An abnormal CPR is associated with a higher rate severe pre-eclampsia with delivery at earlier gestational ages than with a normal UA or an abnormal UA, but normal CPR.Journal of Perinatology advance online publication, 4 December 2014; doi:10.1038/jp.2014.210. PMID:25474554

Regan, J; Masters, H; Warshak, C R

2014-12-01

52

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

53

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.

54

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

ERIC Educational Resources Information Center

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

Best, Deborah L.; And Others

55

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...

56

17?-estradiol causes abnormal development in embryos of the viviparous eelpout.  

PubMed

Elevated frequencies of malformations among the offspring of Baltic eelpout (Zoarces viviparus) have been observed in aquatic environments receiving high anthropogenic input suggesting that manmade chemicals could be the causative agent. However, causal links between exposure to chemicals and abnormal development have never been confirmed in laboratory experiments. The purpose of this study was to investigate if exposure to 17?-estradiol (E2) causes abnormal development in larvae of the viviparous eelpout. Wild female eelpout were collected immediately after fertilization and exposed to E2 concentrations ranging from 5.7 to 133 ng L(-1) for 6 weeks in a flow through test system. The experiment shows that E2 concentrations of 53.6 and 133 ng L(-1) cause severe abnormal development among eelpout embryos. Reduced amount of ovarian fluid and increased weight of the ovarian sac indicate disturbance of ovarian function. Female plasma concentrations of E2 and vitellogenin increase in a monotonic concentration-response relationship with significant induction in the low concentration range. Our findings support the plausibility that the abnormal development among eelpout embryos encountered in monitoring programs may actually be caused by exposure to chemicals in the environment. PMID:25380199

Morthorst, Jane E; Brande-Lavridsen, Nanna; Korsgaard, Bodil; Bjerregaard, Poul

2014-12-16

57

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

EPA Science Inventory

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

58

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

59

Prevalence of anal human papillomavirus infection and cytologic abnormalities among HIV-infected and HIV-uninfected men who have sex with men  

PubMed Central

Introduction Human papillomavirus (HPV) is responsible for 85% of anal cancers. Recently, anal cancer incidence has been increasing, particularly in men who have sex with men (MSM). Cytology may be a useful tool for the detection of anal precancerous lesions. We assessed the prevalence and determinants of anal HPV infection and cytologic abnormalities among HIV-infected and -uninfected MSM. Materials and Methods MSM ?18-year-old attending an STI clinic in Rome (Italy) were enrolled. Anal cytologic samples were collected in PreservCyt (Hologic) using a Dacron swab. The Linear Array HPV Genotyping Test (Roche Diagnostics) was used for the detection and genotyping of 37 mucosal HPV types. Liquid-based cytological slides were obtained using a ThinPrep2000 processor (Hologic). The morphology of the anal pap-test was classified following the Bethesda 2001 guidelines. Results We enrolled 180 HIV-infected (median age 41 years, IQR 33–47) and 438 HIV-uninfected MSM (median age 32 years, IQR: 27–39). Most of the individuals were Caucasian (92.2% and 97.0%, respectively). HPV prevalence, both overall (93.3% vs 72.4%, p<.001) and by high-risk (HR) HPV types (80.5% vs 56.0%, p<.001), was significantly higher among HIV-infected than HIV-uninfected individuals. HPV-multiple infections were evidenced in 48.2% of the HIV-uninfected and 76.1% of the HIV-infected MSM (p<.001). HPV16 was the most prevalent genotype in both groups (23.3% in HIV-positive and 17.6% in HIV-negative MSM). HPV6 and 84 were the most frequent low-risk types in both cohorts. Anal cytologic abnormalities were found in a significantly higher proportion of HIV-infected MSM (46.1% vs 27.9%, p<.001). H-SILs (high-grade squamous intraepithelial lesions) were exclusively observed among the HIV-infected individuals, although at a low prevalence (1.2%). Conclusions A high prevalence of anal HPV infection and cytologic abnormalities was evidenced in both populations. Nonetheless, HIV-infected MSM showed a significantly higher rate of HPV infection and abnormal cytology, confirming that HIV-1 infection poses a significant risk for anal HPV infection as well as for anal cellular abnormalities. Screening for anal cancer, which is currently the most frequent non-AIDS-defining cancer in HIV-positive MSM, should be considered for this population. Moreover, vaccination strategies for the prevention of HPV infection should be taken into account. PMID:25397412

Latini, Alessandra; Gabriella Dona, Maria; Ronchetti, Livia; Giglio, Amalia; Moretto, Domenico; Colafigli, Manuela; Laquintana, Valentina; Frasca, Mirko; Zaccarelli, Mauro; Antinori, Andrea; Cristaudo, Antonio; Giuliani, Massimo

2014-01-01

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

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

ERIC Educational Resources Information Center

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

Keyes, Susan

1984-01-01

62

Sexing development and relocating gender: an organisational case study.  

PubMed

While gender has become increasingly mainstreamed in international development, it has lost its sharpness as an analytical tool and operational means to women's liberation. Sexuality, while it intersects with gender as a social construct, has been largely ignored within development contexts. This paper draws on findings that emerged from the gains and struggles experienced by project staff in a large international development agency engaging communities on issues related to sexual and women's rights. In so doing, it illustrates how a sexuality lens can move beyond gender equity and sexual health programmes focused on women's vulnerability (largely framed around protecting women and promoting access to services and contraceptive or condom use) to richer understandings of the range of social and cultural factors shaping sexual meanings and gender roles. Reshaping understandings of gender and sexuality requires a change from the conventional development discourse based on biomedical and moral-based sensibilities that associates sex with risk and danger, towards one that also recognises pleasure and agency. Sexuality is a vital aspect of development and sexual rights are a precondition not only for HIV/AIDS prevention, reproductive health or rights, but also for gender equality and social inclusion more widely. While personal and organisational transformation is fundamental, broader social, cultural and political forces, from community groups to governments and donors at large, must lie at the heart of change. PMID:19548159

Magar, V; Storer, G

2009-01-01

63

Clinical respiratory abnormalities in Michigan. Prevalence by sex and smoking history in a representative sample of the adult population.  

PubMed

A stratified random sample of a large state (Michigan) was studied by respiratory questionnaire, medical history, and physical examination. Data were obtained on 1,169 white adults. The prevalence of chronic bronchitis and chronic wheezing varied with sex (greater in men) and smoking history (greatest in current smokers). The prevalence of chronic bronchitis varied depending on whether it was (1) defined simply as chronic production of sputum, (2) diagnosed by the examining physician, or (3) previously diagnosed by a physician. Dyspnea was more common in women; in men, it was least common in nonsmokers but was of similar prevalence in ex-smokers and current smokers. Angina was more commonly reported by women, but previously diagnosed heart attack was consistently more common in men. Wheezing was by far the most common physical sign, present in 5.1 percent of the total population and 9.2 percent of male current smokers. Clubbing and rales were each noted in 1.2 percent of the total population. The prevalences of clinical findings in this cross section of a large state should be useful for comparison with other populations. PMID:3056659

Miller, A; Thornton, J C; Anderson, H A; Selikoff, I J

1988-12-01

64

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

PubMed Central

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

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

2014-01-01

65

mTOR signaling and its roles in normal and abnormal brain development  

PubMed Central

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

Takei, Nobuyuki; Nawa, Hiroyuki

2014-01-01

66

Development of Sex Constancy: The Role of Language.  

ERIC Educational Resources Information Center

Two studies were conducted to determine whether language as well as appearance cues would influence children's performance on a sex constancy task. In the first study, preschoolers and second graders participated in a sex constancy task in which different labels were used to refer to a picture of a boy or girl. The results showed that older…

Beal, Carole R.; Lockhart, Maria E.

67

An in vitro model for abnormal skeletal development in the lysosomal storage diseases  

Microsoft Academic Search

Lysosomal storage diseases such as GM1-gangliosidosis are associated with skeletal abnormalities. Radiological and histological studies, both in human and corresponding animal models, indicate retarded bone formation. Since cartilage maturation leads to bone formation, we developed an in vitro system to study and compare the biological features of cartilage from dogs affected with GM1-gangliosidosis with age-matched controls. Costochondral chondrocytes were grown

Amy Lynn Aulthouse; Joseph Alroy

1995-01-01

68

Chronic exposure of mutant DISC1 mice to lead produces sex-dependent abnormalities consistent with schizophrenia and related mental disorders: a gene-environment interaction study.  

PubMed

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

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

2014-05-01

69

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

Microsoft Academic Search

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

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

2004-01-01

70

Sex-linked chorioretinal heredodegenerations.  

PubMed

The sex-linked chorioretinal heredodegenerations are progressive chorioretinal degeneration or choroideremia, sex-linked pigmentary retinopathy and sex-linked choroidal sclerosis. In chroroideremia the hemizygote male is fully affected, but the female heterozygote carrier shows fundus abnormalities (irregular pigmentation of the retinal periphery). The involvement of some females can be explained by Lyon's inactivation theory. The sex-linked pigmentary retinopathy is either recessive or intermediate or exceptionally dominant. In the intermediate form the female carriers show a tapetoretinal golden reflex. The sex-linked choroidal sclerosis is probably an intermediate stage in the development of a chorioretinal degeneration into choroideremia. All these degenerations must be differentiated from ocular albinism, which is also sex-linked with clinical stigmata in the female carriers (fundus changes and iris-translucency). PMID:4950918

François, J

1971-03-01

71

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

PubMed

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

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

2013-01-01

72

Gene expression of Hsps in normal and abnormal embryonic development of mouse hindlimbs.  

PubMed

Heat shock proteins (Hsps), which have important biological functions, are a class of highly conserved genetic molecules with the capacity of protecting and promoting cells to repair themselves from damage caused by various stimuli. Our previous studies found that Hsp25, HspB2, HspB3, HspB7, Hsp20, HspB9, HspB10, and Hsp40 may be related to all-trans retinoic acid (atRA)-induced phocomelic and other abnormalities, while HspA12B, HspA14, Trap1, and Hsp105 may be forelimb development-related genes; Grp78 may play an important role in forelimb development. In this study, the embryonic phocomelic, oligodactylic model of both forelimbs and hindlimbs was developed by atRA administered per os to the pregnant mice on gestational day 11, and the expression of 36 members of Hsps family in normal and abnormal development of embryonic hindlimbs was measured by real-time fluorescent quantitative polymerase chain reaction (qRT-PCR). It is found that HspA1L, Hsp22, Hsp10, Hsp60, Hsp47, HspB2, HspB10, HspA12A, Apg1, HspB4, Grp78, and HspB9 probably performs a major function in limb development, and HspA13, Grp94 and Hsp110 may be hindlimb development-related genes. PMID:25352652

Yan, Zhengli; Wei, Huimiao; Ren, Chuanlu; Yuan, Shishan; Fu, Hu; Lv, Yuan; Zhu, Yongfei; Zhang, Tianbao

2014-10-28

73

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

74

Sex-specific pattern formation during early Drosophila development.  

PubMed

The deleterious effects of different X-chromosome dosage in males and females are buffered by a process called dosage compensation, which in Drosophila is achieved through a doubling of X-linked transcription in males. The male-specific lethal complex mediates this process, but is known to act only after gastrulation. Recent work has shown that the transcription of X-linked genes is also upregulated in males prior to gastrulation; whether it results in functional dosage compensation is not known. Absent or partial early dosage compensation raises the possibility of sex-biased expression of key developmental genes, such as the segmentation genes controlling anteroposterior patterning. We assess the functional output of early dosage compensation by measuring the expression of even-skipped (eve) with high spatiotemporal resolution in male and female embryos. We show that eve has a sexually dimorphic pattern, suggesting an interaction with either X-chromosome dose or the sex determination system. By manipulating the gene copy number of an X-linked transcription factor, giant (gt), we traced sex-biased eve patterning to gt dose, indicating that early dosage compensation is functionally incomplete. Despite sex-biased eve expression, the gene networks downstream of eve are able to produce sex-independent segmentation, a point that we establish by measuring the proportions of segments in elongated germ-band embryos. Finally, we use a whole-locus eve transgene with modified cis regulation to demonstrate that segment proportions have a sex-dependent sensitivity to subtle changes in Eve expression. The sex independence of downstream segmentation despite this sensitivity to Eve expression implies that additional autosomal gene- or pathway-specific mechanisms are required to ameliorate the effects of partial early dosage compensation. PMID:23410834

Manu; Ludwig, Michael Z; Kreitman, Martin

2013-05-01

75

Thymic Stromal-Cell Abnormalities and Dysregulated T-Cell Development in IL-2-Deficient Mice  

PubMed Central

The role that interleukin-2 (IL-2) plays in T-cell development is not known. To address this issue, we have investigated the nature of the abnormal thymic development and autoimmune disorders that occurs in IL-2-deficient (IL-2–/–) mice. After 4 to 5 weeks of birth, IL-2–/– mice progressively develop a thymic disorder resulting in the disruption of thymocyte maturation. This disorder is characterized by a dramatic reduction in cellularity, the selective loss of immature CD4-8- (double negative; DN) and CD4+8+ (double positive; DP) thymocytes and defects in the thymic stromal-cell compartment. Immunohistochemical staining of sections of thymuses from specific pathogen-free and germ-free IL-2–/– mice of various ages showed a progressive ,loss of cortical epithelial cells, MHC class II-expressing cells, monocytes, and macrophages. Reduced numbers of macrophages were apparent as early as week after birth. Since IL-2–/– thymocyte progenitor populations could mature normally on transfer into a normal thymus, the thymic defect in IL-2–/– mice appears to be due to abnormalities among thymic stromal cells. These results underscore the role of IL-2 in maintaining functional microenvironments that are necessary to support thymocyte growth, development, and selection. PMID:9814585

Reya, Tannishtha; Bassiri, Hamid; Biancaniello, Renée

1998-01-01

76

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

77

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

78

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

ERIC Educational Resources Information Center

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

Scott, Brigitte C.

2013-01-01

79

Decision Processes During Development of Molecular Biomarkers for Gonadal Phenotypic Sex  

EPA Science Inventory

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

80

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

PubMed

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

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

2013-01-01

81

Sleep spindling and fluid intelligence across adolescent development: sex matters  

PubMed Central

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

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

2014-01-01

82

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

83

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

84

Sex hormones in early infancy seem to predict aspects of later language development.  

PubMed

Sex differences in the development of cognitive behavior such as language have long been of great research interest. Lately, researchers have started to associate language function and brain differences with diverse sex hormones (e.g., testosterone/estradiol). However, results concerning the impact of early postnatal sex hormone concentration on the child's later language development are rare. Here, we analyze the impact of testosterone and estradiol in girls and boys as well as their neurophysiological phonemic discrimination at age 5months on language development at age 4years. Interestingly, we found strong positive estradiol and negative testosterone impact on later language performance at age 4years, which was true for both girls and boys. These results demonstrate that postnatal sex hormone surge might be viewed as one factor determining later language development, independent of gender. PMID:25540858

Schaadt, Gesa; Hesse, Volker; Friederici, Angela D

2015-02-01

85

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

86

Gadd45g is essential for primary sex determination, male fertility and testis development.  

PubMed

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

87

Congenital Hydrocephalus and Abnormal Subcommissural Organ Development in Sox3 Transgenic Mice  

PubMed Central

Congenital hydrocephalus (CH) is a life-threatening medical condition in which excessive accumulation of CSF leads to ventricular expansion and increased intracranial pressure. Stenosis (blockage) of the Sylvian aqueduct (Aq; the narrow passageway that connects the third and fourth ventricles) is a common form of CH in humans, although the genetic basis of this condition is unknown. Mouse models of CH indicate that Aq stenosis is associated with abnormal development of the subcommmissural organ (SCO) a small secretory organ located at the dorsal midline of the caudal diencephalon. Glycoproteins secreted by the SCO generate Reissner's fibre (RF), a thread-like structure that descends into the Aq and is thought to maintain its patency. However, despite the importance of SCO function in CSF homeostasis, the genetic program that controls SCO development is poorly understood. Here, we show that the X-linked transcription factor SOX3 is expressed in the murine SCO throughout its development and in the mature organ. Importantly, overexpression of Sox3 in the dorsal diencephalic midline of transgenic mice induces CH via a dose-dependent mechanism. Histological, gene expression and cellular proliferation studies indicate that Sox3 overexpression disrupts the development of the SCO primordium through inhibition of diencephalic roof plate identity without inducing programmed cell death. This study provides further evidence that SCO function is essential for the prevention of hydrocephalus and indicates that overexpression of Sox3 in the dorsal midline alters progenitor cell differentiation in a dose-dependent manner. PMID:22291885

Lee, Kristie; Tan, Jacqueline; Morris, Michael B.; Rizzoti, Karine; Hughes, James; Cheah, Pike See; Felquer, Fernando; Liu, Xuan; Piltz, Sandra; Lovell-Badge, Robin; Thomas, Paul Q.

2012-01-01

88

Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.  

PubMed

Congenital hydrocephalus (CH) is a life-threatening medical condition in which excessive accumulation of CSF leads to ventricular expansion and increased intracranial pressure. Stenosis (blockage) of the Sylvian aqueduct (Aq; the narrow passageway that connects the third and fourth ventricles) is a common form of CH in humans, although the genetic basis of this condition is unknown. Mouse models of CH indicate that Aq stenosis is associated with abnormal development of the subcommmissural organ (SCO) a small secretory organ located at the dorsal midline of the caudal diencephalon. Glycoproteins secreted by the SCO generate Reissner's fibre (RF), a thread-like structure that descends into the Aq and is thought to maintain its patency. However, despite the importance of SCO function in CSF homeostasis, the genetic program that controls SCO development is poorly understood. Here, we show that the X-linked transcription factor SOX3 is expressed in the murine SCO throughout its development and in the mature organ. Importantly, overexpression of Sox3 in the dorsal diencephalic midline of transgenic mice induces CH via a dose-dependent mechanism. Histological, gene expression and cellular proliferation studies indicate that Sox3 overexpression disrupts the development of the SCO primordium through inhibition of diencephalic roof plate identity without inducing programmed cell death. This study provides further evidence that SCO function is essential for the prevention of hydrocephalus and indicates that overexpression of Sox3 in the dorsal midline alters progenitor cell differentiation in a dose-dependent manner. PMID:22291885

Lee, Kristie; Tan, Jacqueline; Morris, Michael B; Rizzoti, Karine; Hughes, James; Cheah, Pike See; Felquer, Fernando; Liu, Xuan; Piltz, Sandra; Lovell-Badge, Robin; Thomas, Paul Q

2012-01-01

89

An abnormally developed embryo of the pill millipede Glomeris marginata that lacks dorsal segmental derivatives.  

PubMed

The body of arthropods is subdivided in serially homologous units, the so-called segments. In many arthropods, ventral and dorsal segmental tissue typically is aligned in parallel, but is dependent on different genetic inputs. In the pill millipede Glomeris marginata (Myriapoda: Diplopoda), ventral and dorsal segmental patterning is clearly decoupled providing an excellent model for the investigation of ventral versus dorsal segmentation mechanisms. This paper reports on the finding of a single embryo that lacks dorsal segmental and extraembryonic tissue. Ventral derivatives, however, are widely developed normally. This suggests that ventral and dorsal tissue is not only patterned differently, as shown previously, but also that ventral tissue can develop (or at least persist) independently from dorsal tissue. It also suggests a correlation of dorsal segmentation and function of the extraembryonic tissue. This assumed correlation may involve the guidance of the two dorsal hemispheres of the developing embryo dorsally, or that formation and/or maintenance of extraembryonic tissue depends on the input of dorsal segmental tissue. Whether the observed abnormalities are caused by mutation or are the result of otherwise disturbed early development is unclear. PMID:21997711

Janssen, Ralf

2011-12-01

90

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

91

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

PubMed

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

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

2014-12-10

92

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

93

Defective development of the thymus and immunological abnormalities in the neurological mouse mutation "staggerer".  

PubMed

The autosomal recessive mouse mutation "staggerer" (sg/sg), located on chromosome 9, has been recognized as a neurological mutant because of movement abnormalities and defective cerebellar development. We show here that the sg/sg mutation not only affects the development of the cerebellum, but also causes developmental and regulatory changes of the immune system: We observed, on gross inspection, a marked delay in the development of sg/sg thymus, generally enlarged lymph nodes, and undersized spleens. When immunized with SRBC, the sg/sg mouse generated, in normal proportions, helper T-cells in vivo and antibody-forming B-cells in vitro; however, a delay in terminating the response and a deficiency in generating suppressor cells was noted. This suggests the existence of a defect in regulatory feedback mechanisms. The marked delay in the growth of the thymus gland was associated with the prolonged existence of cell-surface carbohydrate patterns characteristic of immature thymocytes. The prolonged expression of embryonal cell-surface phenotypes was observed on the surface of cerebellum and thymus (and, to some extent, spleen) but not in cells from other organs. PMID:3486948

Trenkner, E; Hoffmann, M K

1986-06-01

94

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

95

A curious abnormally developed embryo of the pill millipede Glomeris marginata (Villers, 1789)  

PubMed Central

Abstract This paper reports on an abnormally developed embryo (ADE) of the common pill millipede Glomeris marginata. This ADE represents a modified case of Duplicitas posterior, in which two posterior ends are present, but only one anterior end. While the major posterior germ band of the embryo appears almost normally developed, the minor posterior germ band is heavily malformed, has no clear correlation to the single head, little or no ventral tissue, and a minute amount of yolk. The anterior end of the minor germ band is fused to the ventral side of the major germ band between the first and second trunk segment. At least one appendage of the second trunk segment appears to be shared by the two germ bands. Morphology and position of the minor germ band suggest that the ADE may be the result of an incorrectly established single cumulus [the later posterior segment addition zone (SAZ)]. This differs from earlier reports on Duplicitas posterior type ADEs in Glomeris marginata that are likely the result of the early formation of two separate cumuli. PMID:23794817

Janssen, Ralf

2013-01-01

96

A curious abnormally developed embryo of the pill millipede Glomeris marginata (Villers, 1789).  

PubMed

This paper reports on an abnormally developed embryo (ADE) of the common pill millipede Glomeris marginata. This ADE represents a modified case of Duplicitas posterior, in which two posterior ends are present, but only one anterior end. While the major posterior germ band of the embryo appears almost normally developed, the minor posterior germ band is heavily malformed, has no clear correlation to the single head, little or no ventral tissue, and a minute amount of yolk. The anterior end of the minor germ band is fused to the ventral side of the major germ band between the first and second trunk segment. At least one appendage of the second trunk segment appears to be shared by the two germ bands. Morphology and position of the minor germ band suggest that the ADE may be the result of an incorrectly established single cumulus [the later posterior segment addition zone (SAZ)]. This differs from earlier reports on Duplicitas posterior type ADEs in Glomeris marginata that are likely the result of the early formation of two separate cumuli. PMID:23794817

Janssen, Ralf

2013-01-01

97

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

PubMed

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

Ulbright, Thomas M; Young, Robert H

2014-09-01

98

Characteristics of activities that affect the development of women's same-sex relationships.  

PubMed

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

Davis-Delano, Laurel R

2014-01-01

99

The Psychosocial Development of Sex Offenders: Differences between Exhibitionists, Child Molesters, and Incest Offenders  

Microsoft Academic Search

A number of studies have shown that there are differences between how offenders who have committed different crimes perform in therapy. This article aims to shed some light on these differences by exploring differences in the psychosocial development of exhibitionists extra-familial child molesters, and incest offenders. Eighty-one men completed the Measures of Psychosocial Development at intake into an outpatient sex

Michael H. Miner; S. Margretta Dwyer

1997-01-01

100

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

101

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

102

Sea Urchin Sex: Ideal Conditions for Fertilization and Development  

NSDL National Science Digital Library

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

Kathleen Caslow (Episcopal High School)

2007-08-01

103

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

PubMed

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

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

2012-08-01

104

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

PubMed Central

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

Shukla, Jayendra Nath; Palli, Subba Reddy

2014-01-01

105

Sex-biased gene expression during head development in a sexually dimorphic stalk-eyed fly.  

PubMed

Stalk-eyed flies (family Diopsidae) are a model system for studying sexual selection due to the elongated and sexually dimorphic eye-stalks found in many species. These flies are of additional interest because their X chromosome is derived largely from an autosomal arm in other flies. To identify candidate genes required for development of dimorphic eyestalks and investigate how sex-biased expression arose on the novel X, we compared gene expression between males and females using oligonucleotide microarrays and RNA from developing eyestalk tissue or adult heads in the dimorphic diopsid, Teleopsis dalmanni. Microarray analysis revealed sex-biased expression for 26% of 3,748 genes expressed in eye-antennal imaginal discs and concordant sex-biased expression for 86 genes in adult heads. Overall, 415 female-biased and 482 male-biased genes were associated with dimorphic eyestalk development but not differential expression in the adult head. Functional analysis revealed that male-biased genes are disproportionately associated with growth and mitochondrial function while female-biased genes are associated with cell differentiation and patterning or are novel transcripts. With regard to chromosomal effects, dosage compensation occurs by elevated expression of X-linked genes in males. Genes with female-biased expression were more common on the X and less common on autosomes than expected, while male-biased genes exhibited no chromosomal pattern. Rates of protein evolution were lower for female-biased genes but higher for genes that moved on or off the novel X chromosome. These findings cannot be due to meiotic sex chromosome inactivation or by constraints associated with dosage compensation. Instead, they could be consistent with sexual conflict in which female-biased genes on the novel X act primarily to reduce eyespan in females while other genes increase eyespan in both sexes. Additional information on sex-biased gene expression in other tissues and related sexually monomorphic species could confirm this interpretation. PMID:23527273

Wilkinson, Gerald S; Johns, Philip M; Metheny, Jackie D; Baker, Richard H

2013-01-01

106

Abnormal development of placenta in HtrA1-deficient mice.  

PubMed

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

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

2015-01-01

107

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

Microsoft Academic Search

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

Marcia L. Collaer; Melissa Hines

1995-01-01

108

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

109

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

110

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

111

Adult Development and Life Satisfaction Functions of Sex, Marital Status and Age.  

ERIC Educational Resources Information Center

Quality of life in adulthood (ages 27-47) was investigated; age, marital status and sex were considered the primary variables. Attention was given to the consideration of the current crises-oriented theory of adult development. The interrelationship of the variables was of principle interest in assessing life satisfaction and personality…

Coles, Claire; McCall, Fran

112

Sex differences in syntactic development: Evidence from Cantonese-speaking preschoolers in Hong Kong  

Microsoft Academic Search

Utterances produced during spontaneous play activities by 180 Cantonese-speaking children, ranging in age from 3 to 5 years, were analysed with the focus on declaratives. Syntactic development was gauged in terms of changes in the mean length of utterance, sentence type and structure, syntactic complexity, and verb pattern, and age-related develpments in these were found. Significant sex differences were found

Shek Kam Tse; Carol Chan; Sin Mee Kwong; Hui Li

2002-01-01

113

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.

114

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

115

Gonadal development and sex determination in pulmonate molluscs  

Microsoft Academic Search

The development of the gonad, from hatching through sexual maturity and oviposition, has been studied in Arion ater rufus and Deroceras reticulatum. At hatching, the gonad is comprised of several acini. These acini are hollow structures, the walls of which are generally one or two cell layers thick. This cell layer consists of intermingled germinal and non-germinal cells. Eventually, each

Daniel Luchtel

1972-01-01

116

Cytogenetic abnormalities in de novo acute myeloid leukemia in adults: relation to morphology, age, sex and ethnicity – a single center study from Singapore  

Microsoft Academic Search

Background: Cytogenetic analysis performed at diagnosis is considered to be the most valuable prognostic factor in acute myeloid leukemia (AML). Large systematic studies of cytogenetic abnormalities in AML patients from Southeast Asia are not available. The karyotypic patterns in AML patients from a single center in Singapore were studied and compared with reports from other regions of the world to

Anoop Kumar Enjeti; Sim Leng Tien; Christina Rudduck Sivaswaren

2004-01-01

117

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

118

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

SciTech Connect

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

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

1993-10-01

119

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

PubMed

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

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

2013-08-26

120

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

PubMed

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

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

2014-06-01

121

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

PubMed Central

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

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

2014-01-01

122

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

ERIC Educational Resources Information Center

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

Cok, Figen; Gray, Lizbeth Ann

2007-01-01

123

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

PubMed

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

Guntram, Lisa

2013-12-01

124

Estradiol17? suppresses testicular development and stimulates sex reversal in protandrous black porgy, Acanthopagrus schlegeli  

Microsoft Academic Search

Two year old black porgy (Acanthopagrus schlegeli) fed a diet containing 4.0 mg kg-1 of estradiol-17ß (E2) for 5 months had significantly lower GSI than the control group during the spawning season. E2 suppressed testicular development, spermiation and plasma testosterone (T) and 11-ketotestosterone (11-KT) and stimulated ovarian development, vitellogenesis and sex reversal. Spermiation in the control group occurred in January

Ching-Fong Chang; En-Lieng Lau; Bih-Yun Lin

1995-01-01

125

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

PubMed Central

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

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

2013-01-01

126

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

Microsoft Academic Search

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

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

2003-01-01

127

Anodyspareunia in men who have sex with men: prevalence, predictors, consequences and the development of DSM diagnostic criteria.  

PubMed

In a sample of men who have sex with men (N = 404), 55 (14%) experienced anodyspareunia, frequent and severe pain during receptive anal sex. Most men with anodyspareunia described their pain as life-long, experienced psychological distress as a result, and avoided anal sex for periods of time. Men with anodyspareunia reported that psychological factors were the primary contributing cause of their pain. The findings contradict the myth that pain is a necessary consequence of receptive anal sex and show that anodyspareunia is similar to dyspareunia in women in terms of prevalence, mental health consequences, and contributing factors. Clinical criteria were developed to assist clinicians in diagnosing anodyspareunia. PMID:15859372

Damon, Will; Rosser, B R Simon

2005-01-01

128

Battle of the sexes: new insights into genetic pathways of gonadal development.  

PubMed Central

Sex determination is governed by a series of genetic switches that influence cell fate and differentiation during critical periods of gonadal development. Remarkably, the primordial fetal gonad is bipotential. Therefore, gonadal development provides an excellent opportunity to identify genes involved in differential organogenesis. The identification of the testis-determining gene, SRY (Sex-reversed on the Y), was a pivotal first step towards unraveling this genetic pathway. It is now clear that numerous other genes, in addition to SRY, are necessary for normal testis development. For example, human mutations in a variety of genes (SOX9, WT1, SF1) impair testis development. Murine models provide evidence for additional genes (Lhx9, Emx2, M33, Dmrt, Fgf9). This lecture will highlight insights gleaned from human mutations in the nuclear receptors, SF1 (Steroidogenic Factor1) (NR5A1) and DAX1 (Dosage-sensitive sex reversal, Adrenal hypoplasia congenita, X chromosome) (NR0B1). These studies reveal the exquisite sensitivity of SF1-dependent developmental pathways to gene dosage and function in humans. PMID:12813911

Jameson, J. Larry; Achermann, John C.; Ozisik, Gokhan; Meeks, Joshua J.

2003-01-01

129

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

130

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

131

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

Technology Transfer Automated Retrieval System (TEKTRAN)

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

132

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

133

Synergistic Disruption of External Male Sex Organ Development by a Mixture of Four Antiandrogens  

PubMed Central

Background By disrupting the action of androgens during gestation, certain chemicals present in food, consumer products, and the environment can induce irreversible demasculinization and malformations of sex organs among male offspring. However, the consequences of simultaneous exposure to such chemicals are not well described, especially when they exert their actions by differing molecular mechanisms. Objectives To fill this gap, we investigated the effects of mixtures of a widely used plasticizer, di(2-ethylhexyl) phthalate (DEHP); two fungicides present in food, vinclozolin and prochloraz; and a pharmaceutical, finasteride, on landmarks of male sexual development in the rat, including changes in anogenital distance (AGD), retained nipples, sex organ weights, and malformations of genitalia. These chemicals were chosen because they disrupt androgen action with differing mechanisms of action. Results Strikingly, the effect of combined exposure to the selected chemicals on malformations of external sex organs was synergistic, and the observed responses were greater than would be predicted from the toxicities of the individual chemicals. In relation to other hallmarks of disrupted male sexual development, including changes in AGD, retained nipples, and sex organ weights, the combined effects were dose additive. When the four chemicals were combined at doses equal to no observed adverse effect levels estimated for nipple retention, significant reductions in AGD were observed in male offspring. Conclusions Because unhindered androgen action is essential for human male development in fetal life, these findings are highly relevant to human risk assessment. Evaluations that ignore the possibility of combination effects may lead to considerable underestimations of risks associated with exposures to chemicals that disrupt male sexual differentiation. PMID:20049201

Christiansen, Sofie; Scholze, Martin; Dalgaard, Majken; Vinggaard, Anne Marie; Axelstad, Marta; Kortenkamp, Andreas; Hass, Ulla

2009-01-01

134

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

PubMed

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

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

2013-09-01

135

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

PubMed Central

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

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

2011-01-01

136

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

PubMed

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

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

2012-01-01

137

Organizational and activational effects of sex steroids on kisspeptin neuron development  

PubMed Central

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

Poling, Matthew C.; Kauffman, Alexander S.

2012-01-01

138

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

139

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

PubMed

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

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

2014-11-10

140

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

PubMed

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

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

2015-02-01

141

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

USGS Publications Warehouse

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

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

1999-01-01

142

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

USGS Publications Warehouse

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

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

1999-01-01

143

Islamic Bioethical Deliberation on the Issue of Newborns with Disorders of Sex Development.  

PubMed

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

Mohamed, Mohd Salim; Noor, Siti Nurani Mohd

2014-03-25

144

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

145

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

146

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

PubMed

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

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

2014-11-15

147

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

PubMed

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 affected neither 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

2010-12-15

148

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

PubMed Central

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

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

2010-01-01

149

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

150

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

PubMed

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

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

2015-01-01

151

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

PubMed

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

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

2014-11-01

152

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

PubMed Central

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

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

2015-01-01

153

Congenital Abnormalities  

MedlinePLUS

... Ask your pediatrician for a referral to a genetic counseling service . These services have expertise with a variety ... Family Health History & Genetics Detecting Genetic Abnormalities Prenatal Genetic Counseling Children with Down Syndrome: Health Care Information for ...

154

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

PubMed

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

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

2013-12-01

155

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

PubMed

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

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

2014-01-01

156

Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry  

PubMed Central

Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases. Objective: To report the range of associated conditions identified in the international DSD (I-DSD) Registry. Design, Setting, and Patients: Anonymized data were extracted from the I-DSD Registry for diagnosis, karyotype, sex of rearing, genetic investigations, and associated anomalies. If necessary, clarification was sought from the reporting clinician. Results: Of 649 accessible cases, associated conditions occurred in 168 (26%); 103 (61%) cases had one condition, 31 (18%) had two conditions, 20 (12%) had three conditions, and 14 (8%) had four or more conditions. Karyotypes with most frequently reported associations included 45,X with 6 of 8 affected cases (75%), 45,X/46,XY with 19 of 42 cases (45%), 46,XY with 112 of 460 cases (24%), and 46,XX with 27 of 121 cases (22%). In the 112 cases of 46,XY DSD, the commonest conditions included small for gestational age in 26 (23%), cardiac anomalies in 22 (20%), and central nervous system disorders in 22 (20%), whereas in the 27 cases of 46,XX DSD, skeletal and renal anomalies were commonest at 12 (44%) and 8 (30%), respectively. Of 170 cases of suspected androgen insensitivity syndrome, 19 (11%) had reported anomalies and 9 of these had confirmed androgen receptor mutations. Conclusions: Over a quarter of the cases in the I-DSD Registry have an additional condition. These associations can direct investigators toward novel genetic etiology and also highlight the need for more holistic care of the affected person. PMID:24302751

Cox, Kathryn; Bryce, Jillian; Jiang, Jipu; Rodie, Martina; Sinnott, Richard; Alkhawari, Mona; Arlt, Wiebke; Audi, Laura; Balsamo, Antonio; Bertelloni, Silvano; Cools, Martine; Darendeliler, Feyza; Drop, Stenvert; Ellaithi, Mona; Guran, Tulay; Hiort, Olaf; Holterhus, Paul-Martin; Hughes, Ieuan; Krone, Nils; Lisa, Lidka; Morel, Yves; Soder, Olle; Wieacker, Peter

2014-01-01

157

Abnormal pressures as hydrodynamic phenomena  

USGS Publications Warehouse

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

Neuzil, C.E.

1995-01-01

158

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...

159

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

160

Chromosomal abnormalities in women with breast cancer after autologous stem cell transplantation are infrequent and may not predict development of therapy-related leukemia or myelodysplastic syndrome  

Microsoft Academic Search

We determined prospectively the incidence of chromosomal abnormalities in patients with high-risk breast cancer (HRBC) after high-dose chemotherapy (HDCT) and autologous stem cell transplantation (ASCT), and correlated the cytogenetic abnormalities with the development of post-transplant myelodysplastic syndrome or acute myeloid leukemia (MDS\\/AML). From 1990 to 1999, 229 women with HRBC underwent ASCT. Cytogenetic analysis of bone marrow (BM) cells was

JA Martínez-Climent; AM Comes; E Vizcarra; I Benet; C Arbona; F Prósper; C Solano; B García Clavel; I Marugán; A Lluch; J García-Conde

2000-01-01

161

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

ERIC Educational Resources Information Center

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

Munroe, Ruth H.; Munroe, Robert L.

162

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

163

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

PubMed

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

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

2014-02-01

164

DNA modifications and genome rearrangements during the development and sex differentiation of the bumble bee Bombus terrestris.  

PubMed

Bombus terrestris is a bumble bee that, like most hymenopteran species, exhibits ploidy-specific sex determination controlled by a single sex gene. Depending on their ploidy and the queen pheromone repression, the imagoes differentiate into three castes: males, workers and queens. Here, we focus on the differences of genome organization that occur during development and sex differentiation. We found that cytosine methylation is a significant epigenetic factor with profiles that can be correlated with both processes. We also showed that two kinds of genomic rearrangement occur. The first consists of important DNA amplifications that have sequence profiles that differ in the different developmental instars and sexes. In the second kind, DNA losses also occur, at least involving the mosaic transposable element B. terrestris mosaic repeat 1 (BTMR1). PMID:20977508

Bigot, Y; Jegot, G; Casteret, S; Aupinel, P; Tasei, J-N

2011-04-01

165

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

166

Defective Mesonephric Cell Migration Is Associated with Abnormal Testis Cord Development in C57BL\\/6J XY Mus domesticus Mice  

Microsoft Academic Search

During the critical period of mouse sex determination, mesenchymal cells migrate from the mesonephros into the adjacent developing testis. This process is thought to initiate cord development and is dependent on Sry. The presence of Sry, however, does not always guarantee normal testis development. For example, transfer of certain Mus domesticus-derived Y chromosomes, i.e., M. domesticus Sry alleles, onto the

Kenneth H. Albrecht; Blanche Capel; Linda L. Washburn; Eva M. Eicher

2000-01-01

167

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

ERIC Educational Resources Information Center

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

Guzzetta, Francesco; Conti, Guido; Mercuri, Eugenio

2011-01-01

168

Role of environment and sex differences in the development of autoimmune diseases: a roundtable meeting report.  

PubMed

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; Carter, Christine L

2013-07-01

169

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

170

Body Image and Sexuality in Indonesian Adults with a Disorder of Sex Development (DSD).  

PubMed

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

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

2015-01-01

171

Abnormal Cerebellar Development and Foliation in BDNF ?\\/? Mice Reveals a Role for Neurotrophins in CNS Patterning  

Microsoft Academic Search

While target-derived neurotrophins are required for the survival of developing neurons in the PNS, the functions of neurotrophins in the CNS are unclear. Mice with a targeted gene deletion of brain-derived neurotrophic factor (BDNF) exhibit a wide-based gait. Consistent with this behavioral evidence of cerebellar dysfunction, there is increased death of granule cells, stunted growth of Purkinje cell dendrites, impaired

Phillip M Schwartz; Paul R Borghesani; Richard L Levy; Scott L Pomeroy; Rosalind A Segal

1997-01-01

172

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

Microsoft Academic Search

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

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

2002-01-01

173

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

174

Abnormal Leydig cell development at puberty in the androgen-resistant Tfm mouse.  

PubMed

Leydig cells are the major source of androgens in the male, and it is likely that these cells are also targets for androgen action. The role of androgen action in regulating the development of Leydig cell function has been determined using the testicular feminized (Tfm/Y) mouse, which lacks androgen receptors. In Tfm mice, the testes fail to descend at the normal time (25 days), and testicular descent was, therefore, surgically prevented in control (+/Y) animals. The activity of 3 beta-hydroxysteroid dehydrogenase increased during development from 5-40 days in control and Tfm mice, with no significant difference between the groups. In control animals, 17 alpha-hydroxylase activity was low from 5-25 days, at which time there was a 26-fold increase up to 40 days. In the Tfm group, 17 alpha-hydroxylase activity was 4-fold higher than that in controls on day 5, but showed no change in activity after 25 days and remained at neonatal levels up to 40 days. The activity of 17-ketosteroid reductase in the control animals showed a developmental pattern similar to that of 17 alpha-hydroxylase, with a marked increase in activity after 25 days. In the Tfm group, 17-ketosteroid reductase was normal on day 5, but failed to show any significant change thereafter and remained at neonatal levels on day 40. Serum LH levels in control animals increased from 5 days to a peak at 30 days. In Tfm mice, LH levels were significantly increased on days 20 and 40, but did not differ from controls on days 5, 25, and 30. In control +/Y animals, in which normal testicular descent was allowed to proceed at 25 days, the pattern of development was similar to that in the cryptorchid +/Y animals, although the increase in 17 alpha-hydroxylase activity at 30 and 40 days was significantly greater. The results show 1) that fetal Leydig cell steroidogenesis is enhanced in the absence of androgen receptors, but 2) that adult Leydig cells require receptor-mediated androgen activity around day 25 for normal functional development. In addition, 3) the lack of testicular descent at 25 days reduces the pubertal rise in 17 alpha-hydroxylase activity. PMID:7925099

Murphy, L; Jeffcoate, I A; O'Shaughnessy, P J

1994-10-01

175

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

PubMed

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

Scher, Mark S

2013-01-01

176

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

PubMed Central

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

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

2012-01-01

177

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

PubMed

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

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

2015-03-01

178

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

PubMed Central

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

2014-01-01

179

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

NASA Astrophysics Data System (ADS)

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

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

2012-01-01

180

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

181

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

NASA Astrophysics Data System (ADS)

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

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

2009-02-01

182

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

183

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

184

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

PubMed

The mouse homoeobox-containing genes exhibit temporally and spatially specific patterns of expression in embryonic and adult tissues and are thought to be important in regulation of development and cellular differentiation, perhaps by mechanisms analogous to homoeotic genes in Drosophila melanogaster. There has been no direct demonstration that expression of these mammalian genes can affect developmental processes, however. Hox-1.4, like other mouse homoeobox-containing genes, has been shown to be expressed in specific regions of the mid-gestation embryo, but is unique in that its highest level of expression in the adult animal is restricted to developing male germ cells. We have introduced a construct carrying the mouse Hox-1.4 gene into the germ line of mice to begin to identify the cis-acting elements required for proper expression and to assess the consequences of increasing Hox-1.4 gene expression. The construct was designed to produce normal Hox-1.4 protein from transcripts that are distinguishable from the products of the endogenous gene. The integrated transgene seemed to exhibit the appropriate tissue specificity of expression, but transcript levels were elevated in certain tissues, particularly the embryonic gut. This overexpression correlated with changes in the normal developmental program of the gut, resulting in an inherited abnormal phenotype known as megacolon. PMID:2563568

Wolgemuth, D J; Behringer, R R; Mostoller, M P; Brinster, R L; Palmiter, R D

1989-02-01

185

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

186

GATA-4 is required for sex steroidogenic cell development in the fetal mouse  

PubMed Central

The transcription factor GATA-4 is expressed in Sertoli cells, steroidogenic Leydig cells, and other testicular somatic cells. Previous studies have established that interaction between GATA-4 and its cofactor FOG-2 is necessary for proper Sry expression and all subsequent steps in testicular organogenesis, including testis cord formation and differentiation of both Sertoli and fetal Leydig cells. Since fetal Leydig cell differentiation depends on Sertoli cell-derived factors, it has remained unclear whether GATA-4 has cell autonomous role in Leydig cell development. We used two experimental systems to explore the role of GATA-4 in the ontogeny of testicular steroidogenic cells. First, chimeric mice were generated by injection of Gata4?/? ES cells into Rosa26 blastocysts. Analysis of the resultant chimeras showed that in developing testis Gata4?/? cells can contribute to fetal germ cells and interstitial fibroblasts but not fetal Leydig cells. Second, wild-type or Gata4?/? ES cells were injected into the flanks of intact or gonadectomized nude mice and the resultant teratomas examined for expression of steroidogenic markers. Wild-type but not Gata4?/? ES cells were capable of differentiating into gonadal-type steroidogenic lineages in teratomas grown in gonadectomized mice. In chimeric teratomas derived from mixtures of GFP-tagged Gata4+/+ ES cells and unlabeled Gata4?/? ES cells, sex steroidogenic cell differentiation was restricted to GFP-expressing cells. Collectively these data suggest that GATA-4 plays an integral role in the development of testicular steroidogenic cells. PMID:17096405

Bielinska, Malgorzata; Seehra, Amrita; Toppari, Jorma; Heikinheimo, Markku; Wilson, David B.

2007-01-01

187

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

E-print Network

Yolk-albumen testosterone in a lizard with temperature-dependent sex determination: Relation February 2013 Accepted 16 February 2013 Available online 4 March 2013 Keywords: Yolk Temperature-dependent sex determination Testosterone Reptile Maternal effects a b s t r a c t The leopard gecko (Eublepharis

Crews, David

188

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

Microsoft Academic Search

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

Brian Tobin

2009-01-01

189

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

190

Evolution and Development of Sex Differences in Cooperative Behavior in Meerkats  

Microsoft Academic Search

In cooperatively breeding birds, where helpers of both sexes assist with the provisioning and upbringing of offspring who are not their own, males tend to contribute more than females to rearing young. This sex difference has been attributed to paternity uncertainty, but could also occur because males contribute more where they are likely to remain and breed in their group

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

2002-01-01

191

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

PubMed

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

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

2007-01-01

192

Inhibition of tyrosine kinase receptors by SU6668 promotes abnormal stromal development at the periphery of carcinomas.  

PubMed

Dynamic contrast-enhanced (albumin-Gd-DTPA) magnetic resonance imaging, performed during 2 weeks of daily administration of an inhibitor of tyrosine kinase receptors (SU6668) in an HT-29 colon carcinoma model, revealed the onset of a hyper-enhancing rim, not observed in untreated tumours. To account for tissue heterogeneity in the quantitative analysis, we segmented tumours into three subunits automatically identified by cluster analysis of the enhancement curves using a k-means algorithm. Transendothelial permeability (Kps) and fractional plasma volume (fPV) were calculated in each subunit. An avascular and necrotic region, an intermediate zone and a well-vascularised periphery were reliably identified. During untreated tumour growth, the identified sub-regions did not substantially change their enhancement pattern. Treatment with SU6668 induced major changes at tumour periphery where a significant increase of Kps and fPV was observed with respect to control tumours. Histology revealed a sub-capsular layer composed of hyper-dense viable tumour cells in the periphery of untreated tumours. The rim of viable neoplastic cells was reduced in treated tumours, and replaced by loose connective tissue characterised by numerous vessels, which explains the observed hyper-enhancement. The present data show a peripheral abnormal development of cancer-associated stroma, indicative of an adaptive response to anti-angiogenic treatment. PMID:19384298

Farace, P; Galiè, M; Merigo, F; Daducci, A; Calderan, L; Nicolato, E; Degrassi, A; Pesenti, E; Sbarbati, A; Marzola, P

2009-05-19

193

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

194

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

Technology Transfer Automated Retrieval System (TEKTRAN)

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

195

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

Technology Transfer Automated Retrieval System (TEKTRAN)

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

196

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

197

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

198

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

PubMed Central

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

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

2011-01-01

199

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...

200

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

PubMed

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

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

2002-07-12

201

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

PubMed Central

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

Matsumoto, Fumi; Shimada, Kenji; Ida, Shinobu

2014-01-01

202

Development of gender constancy and children's sex-typed free play behavior  

Microsoft Academic Search

64 preschool children (aged 27–70 mo) with nearly equal numbers of boys and girls at each of 4 levels of gender constancy were observed during free-play sessions at their preschools to examine relationships among gender constancy, preferences for same- or opposite-sex playmates, and sex-typed activities. Each S's play was rated 40 times on a point-time schedule for type of activity

Judith G. Smetana; Karen J. Letourneau

1984-01-01

203

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

204

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

PubMed Central

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

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

2013-01-01

205

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

ERIC Educational Resources Information Center

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…

Rose, Amanda J.; Rudolph, Karen D.

2006-01-01

206

Cognitive and neurological aspects of sex chromosome aneuploidies.  

PubMed

Sex chromosome aneuploidies are a common group of disorders that are characterised by an abnormal number of X or Y chromosomes. However, many individuals with these disorders are not diagnosed, despite established groups of core features that include aberrant brain development and function. Clinical presentations often include characteristic profiles of intellectual ability, motor impairments, and rates of neurological and psychiatric disorders that are higher than those of the general population. Advances in genetics and neuroimaging have substantially expanded knowledge of potential mechanisms that underlie these phenotypes, including a putative dose effect of sex chromosome genes on neuroanatomical structures and cognitive abilities. Continuing attention to emerging trends in research of sex chromosome aneuploidies is important for clinicians because it informs appropriate management of these common genetic disorders. Furthermore, improved understanding of underlying neurobiological processes has much potential to elucidate sex-related factors associated with neurological and psychiatric disease in general. PMID:24556008

Hong, David S; Reiss, Allan L

2014-03-01

207

Steroid signaling within Drosophila ovarian epithelial cells sex-specifically modulates early germ cell development and meiotic entry.  

PubMed

Drosophila adult females but not males contain high levels of the steroid hormone ecdysone, however, the roles played by steroid signaling during Drosophila gametogenesis remain poorly understood. Drosophila germ cells in both sexes initially follow a similar pathway. After germline stem cells are established, their daughters form interconnected cysts surrounded by somatic escort (female) or cyst (male) cells and enter meiosis. Subsequently, female cysts acquire a new covering of somatic cells to form follicles. Knocking down expression of the heterodimeric ecdysteroid receptor (EcR/Usp) or the E75 early response gene in escort cells disrupts 16-cell cyst production, meiotic entry and follicle formation. Escort cells lose their squamous morphology and unsheath germ cells. By contrast, disrupting ecdysone signaling in males does not perturb cyst development or ensheathment. Thus, sex-specific steroid signaling is essential for female germ cell development at the time male and female pathways diverge. Our results suggest that steroid signaling plays an important sex-specific role in early germ cell development in Drosophila, a strategy that may be conserved in mammals. PMID:23056242

Morris, Lucy X; Spradling, Allan C

2012-01-01

208

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

PubMed

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

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

2014-12-10

209

Longitudinal Follow-up of a Cohort of Patients with Incidental Abnormal Magnetic Resonance Imaging Findings at Presentation and Their Risk of Developing Multiple Sclerosis  

PubMed Central

Background: Magnetic resonance imaging (MRI) is widely used in clinical practice, and “abnormal brain MRI” findings often prompt assessment for multiple sclerosis (MS), even when there are no symptoms suggestive of the disease. Despite several studies involving individuals with “radiologically isolated syndrome” (RIS), little is known about what factors might predict future development of MS. The objective of this study was to longitudinally evaluate clinical and MRI characteristics of people who presented to an MS clinic because of incidental abnormal MRI findings but did not have typical symptoms of MS, in order to assess risk factors for developing MS. Methods: Thirty consecutive patients presenting to an MS clinic for evaluation of abnormal MRI findings were enrolled in the study. Clinical and paraclinical data, including MRI results, were reviewed. Magnetic resonance imaging findings of T2 hyperintensities measuring more than 3 mm in diameter and fulfilling at least three out of four Barkhof criteria, with or without gadolinium-enhancing lesions, were considered to be suggestive of MS. Results: The median follow-up time was 5.5 years. No participants without MRI findings suggestive of MS were diagnosed with MS (P = .005). Fifteen participants had MRI findings suggestive of MS. Seven of the 15 (47%) were diagnosed with MS on follow-up. Cerebrospinal fluid (CSF) testing results were available for 15 participants. Abnormal results were found in six participants, of whom five (83%) also had MRI findings suggestive of MS. Only two of the nine (22%) participants with normal CSF results (P = .04) had MRI findings suggestive of MS. Conclusions: In our cohort, none of the participants without MRI findings suggestive of MS developed MS. The participants with MRI findings suggestive of MS were more likely to develop symptoms and MRI changes typical of MS on follow-up. PMID:25337052

Nakamura, Mio; Morris, Mark; Schultz, Lonni; Elias, Stanton

2014-01-01

210

Safe sex  

MedlinePLUS

Safe sex means taking steps before and during sex that can prevent you from getting an infection, or from ... the skin around the genital area. Before having sex: Get to know your partner and discuss your ...

211

9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.  

PubMed

Deletion of the distal segment of 9p causes a syndrome comprising trigonocephaly, minor anomalies, and intellectual disability. Patients with this condition also frequently present with genitourinary abnormalities including cryptorchidism, hypospadias, ambiguous genitalia, or 46,XY testicular dysgenesis. The region responsible for the gonadal dysgenesis has been localized to 9p24.3 with the likely responsible gene identified as DMRT1. Similar to patients with other molecular causes of 46,XY gonadal dysgenesis, patients with partial del 9p have an increased risk of gonadoblastoma. We present two patients with 46,XY gonadal dysgenesis due to partial 9p monosomy. Both patients were also diagnosed with gonadoblastoma following gonadectomy at an early age. Chromosomal microarray analyses refined the cytogenetic abnormalities and allowed potential genotype-phenotype relationships to be determined. We also review the literature as it pertains to partial 9p monosomy, genital abnormalities and gonadoblastoma and note that a large percentage of affected patients present with two copy number variations. We propose that a two-hit mechanism may be involved in the incomplete penetrance and variable expressivity of partial 9p monosomy and an abnormal genital phenotype. The significant percentage of gonadoblastoma in patients with 46,XY complete gonadal dysgenesis due to partial 9p monosomy also continues to support the necessity of gonadectomy in this patient population. PMID:23824832

Quinonez, Shane C; Park, John M; Rabah, Raja; Owens, Kailey M; Yashar, Beverly M; Glover, Thomas W; Keegan, Catherine E

2013-08-01

212

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

PubMed Central

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

2014-01-01

213

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

214

Sex Differential Item Functioning in the Inventory of Early Development III Social-Emotional Skills  

ERIC Educational Resources Information Center

Social-emotional (SE) skills in the early developmental years of children influence outcomes in psychological, behavioral, and learning domains. The adult ratings of a child's SE skills can be influenced by sex stereotypes. These rating differences could lead to differential conclusions about developmental progress or risk. To ensure that…

Beaver, Jessica L.; French, Brian F.; Finch, W. Holmes; Ullrich-French, Sarah C.

2014-01-01

215

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

216

Developing and Testing a Sex Education Program for the Female Clients of Health Centers in Iran  

ERIC Educational Resources Information Center

In this study a matched intervention-control site design in 14 urban health centers with random selection of 160 participants (80 in each of intervention and control) was used to evaluate a sex education program in Iran. Qualitative methods were used in a needs assessment that also set the content and method of delivery of the program. The…

Shirpak, Khosro Refaie; Ardebili, Hassan Eftekhar; Mohammad, Kazem; Maticka-Tyndale, Eleanor; Chinichian, Maryam; Ramenzankhani, Ali; Fotouhi, Akbar

2007-01-01

217

Topical Review: Fetal Testosterone and Sex Differences in Typical Social Development and in Autism  

Microsoft Academic Search

Experiments in animals leave no doubt that androgens, including testosterone, produced by the testes in fetal and\\/or neonatal life act on the brain to induce sex differences in neural structure and function. In human beings, there is evidence supporting a female superiority in the ability to read nonverbal signals, specific language-related skills, and theory of mind. Even more striking than

Rebecca Christine Knickmeyer; Simon Baron-Cohen

2006-01-01

218

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

PubMed Central

Sperm abnormalities are one of the main factors responsible for male infertility; however, their pathogenesis remains unclear. The role of microRNAs in the development of sperm abnormalities in infertile men has not yet been investigated. Here, we used human induced pluripotent stem cells to investigate the influence of miR-122 expression on the differentiation of these cells into spermatozoa-like cells in vitro. After induction, mutant miR-122-transfected cells formed spermatozoa-like cells. Flow cytometry of DNA content revealed a significant increase in the haploid cell population in spermatozoa-like cells derived from mutant miR-122-transfected cells as compared to those derived from miR-122-transfected cells. During induction, TNP2 and protamine mRNA and protein levels were significantly higher in mutant miR-122-transfected cells than in miR-122-transfected cells. High-throughput isobaric tags for relative and absolute quantification were used to identify and quantify the different protein expression levels in miR-122- and mutant miR-122-transfected cells. Among all the proteins analyzed, the expression of lipoproteins, for example, APOB and APOA1, showed the most significant difference between the two groups. This study illustrates that miR-122 expression is associated with abnormal sperm development. MiR-122 may influence spermatozoa-like cells by suppressing TNP2 expression and inhibiting the expression of proteins associated with sperm development. PMID:23327642

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

2013-01-01

219

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

220

Karyotype and identification of sex in two endangered crane species  

USGS Publications Warehouse

A laboratory procedure for sex identification of monomorphic birds was developed using modern cytological methods of detecting chromosome abnormalities in human amniotic fluid samples. A pin feather is taken from a pre-fledging bird for tissue culture and karyotype analysis. Through this method, the sex was identified and the karyotype described of the whooping crane (Grus americana) and the Mississippi sandhill crane (G. canadensis pulla). Giemsa-stained karyotypes of these species showed an identical chromosome constitution with 2n = 78 + 2. However, differences in the amount of centromeric heterochromatin were observed in the Mississippi sandhill crane when compared to the whooping crane C-banded karyotype.

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

1992-01-01

221

Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran  

PubMed Central

Background: Chromosome abnormality (CA) including Sex chromosomes abnormality (SCAs) is one of the most important causes of disordered sexual development and infertility. SCAs formed by numerical or structural alteration in X and Y chromosomes, are the most frequently CA encountered at both prenatal diagnosis and at birth. Objective: This study describes cytogenetic findings of cases suspected with CA referred for cytogenetic study. Materials and Methods: Blood samples of 4151 patients referred for cytogenetic analysis were cultured for chromosome preparation. Karyotypes were prepared for all samples and G-Banded chromosomes were analyzed using x100 objective lens. Sex chromosome aneuploidy cases were analyzed and categorized in two groups of Turners and Klinefelter’s syndrome (KFS). Results: Out of 230 (5.54%) cases with chromosomally abnormal karyotype, 122 (30%) cases suspected of sexual disorder showed SCA including 46% Turner’s syndrome, 46% KFS and the remaining other sex chromosome abnormalities. The frequency of classic and mosaic form of Turner’s syndrome was 33% and 67%, this was 55% and 45% for KFS, respectively. Conclusion: This study shows a relatively high sex chromosome abnormality in this region and provides cytogenetic data to assist clinicians and genetic counselors to determine the priority of requesting cytogenetic study. Differences between results from various reports can be due to different genetic background or ethnicity. PMID:25242988

Jouyan, Najmeh; Davoudi Dehaghani, Elham; Senemar, Sara; Shojaee, Ashraf; Mozdarani, Hossein

2012-01-01

222

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

223

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

224

Foxl2 functions in sex determination and histogenesis throughout mouse ovary development  

Microsoft Academic Search

BACKGROUND: Partial loss of function of the transcription factor FOXL2 leads to premature ovarian failure in women. In animal models, Foxl2 is required for maintenance, and possibly induction, of female sex determination independently of other critical genes, e.g., Rspo1. Here we report expression profiling of mouse ovaries that lack Foxl2 alone or in combination with Wnt4 or Kit\\/c-Kit. RESULTS: Following

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

2009-01-01

225

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

E-print Network

). Statistical analyses were performed on two edited data sets of birth weights (43, 968) and weaning weights (49, 682) from 1976 through 1987, to evaluate the main effects of age of dam, sex of calf, month of birth, year of birth and creep management..., if applicable. Effects of sire were absorbed in the models to reduce residual variation and all possible two-factor interactions were estimated. Weaning weight was analyzed using both 205- day adjusted weaning weight and unadjusted weaning weight...

Cravey, Matthew David

2012-06-07

226

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

227

Putting prevention in their pockets: developing mobile phone-based HIV interventions for black men who have sex with men.  

PubMed

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

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

2013-04-01

228

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

PubMed Central

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

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

2013-01-01

229

Metabolic abnormalities associated with second generation antipsychotics: fact or fiction? Development of guidelines for screening and monitoring.  

PubMed

Epidemiological studies have demonstrated a relevant increased risk of diabetes in schizophrenic patients who are treated with many atypical antipsychotics, irrespective of concomitant weight gain. Numerous case reports and some large retrospective cohort studies have documented an increased risk of diabetes with some second-generation antipsychotics (SGAs), leading different authors to identify patients on SGA as another high-risk group for diabetes in their review articles. An American consensus conference dealing with this problem has proposed much awaited guidelines for the monitoring of patients on SGA and recommended acquiring additional data, especially from large-scale prospective studies. A more recent Belgian consensus on the screening and management of antipsychotic-related metabolic disturbances has proposed a more stringent approach. Here, we will cover the current diagnosis of metabolic problems, and provide a review of antipsychotic-related metabolic problems (diabetes, lipid abnormalities and the metabolic syndrome), as well as guidelines for the screening and management of metabolic abnormalities in people treated with antipsychotic medication. PMID:16601508

De Hert, Marc; van Eyck, Dominique; De Nayer, Andre

2006-03-01

230

mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis.  

PubMed

Focal cortical dysplasia (FCD) is a localized malformation of cortical development and is the commonest cause of severe childhood epilepsy in surgical practice. Children with FCD are severely disabled by their epilepsy, presenting with frequent seizures early in life. The commonest form of FCD in children is characterized by the presence of an abnormal population of cells, known as balloon cells. Similar pathological changes are seen in the cortical malformations that characterize patients with tuberous sclerosis complex (TSC). However, the cellular and molecular mechanisms that underlie the malformations of FCD and TSC are not well understood. We provide evidence for a defect in autophagy in FCD and TSC. We have found that balloon cells contain vacuoles that include components of the autophagy pathway. Specifically, we show that balloon cells contain prominent lysosomes by electron microscopy, immunohistochemistry for LAMP1 and LAMP2, LysoTracker labelling and enzyme histochemistry for acid phosphatase. Furthermore, we found that balloon cells contain components of the ATG pathway and that there is cytoplasmic accumulation of the regulator of autophagy, DOR. Most importantly we found that there is abnormal accumulation of the autophagy cargo protein, p62. We show that this defect in autophagy can be, in part, reversed in vitro by inhibition of the mammalian target of rapamycin (mTOR) suggesting that abnormal activation of mTOR may contribute directly to a defect in autophagy in FCD and TSC. PMID:23728790

Yasin, Shireena A; Ali, Abu M; Tata, Mathew; Picker, Simon R; Anderson, Glenn W; Latimer-Bowman, Elizabeth; Nicholson, Sarah L; Harkness, William; Cross, J Helen; Paine, Simon M L; Jacques, Thomas S

2013-08-01

231

A review of the embryological development and associated developmental abnormalities of the sternum in the light of a rare palaeopathological case of sternal clefting.  

PubMed

A sternal cleft or bifid sternum is a rare anterior chest wall abnormality. Although several cases have been reported in clinical literature, very little reference has been made to this anomaly in palaeopathological texts. This paper presents a case of superior sternal clefting observed in a middle-aged female with concurrent Paget's disease and congenital hyperkyphosis excavated from a 19th century Dutch psychiatric asylum cemetery in Bloemendaal, The Netherlands. The embryological development of the sternum and associated developmental abnormalities are reviewed and a differential diagnosis is performed on the suite of observed skeletal anomalies. Goltz syndrome, congenital hypothyroidism, disruption of the Hoxb-4 gene, acute excessive maternal alcohol consumption during pregnancy, Coffin-Lowry syndrome and PHACES syndrome were considered as possible causative agents, with the latter two conditions determined to be the most likely. The psychiatric asylum context, from which the individual came, supports the differential diagnosis as neurological abnormalities are common in these two syndromes. This article demonstrates that the integration of embryology, modern clinical literature and palaeopathological principles is vital in the interpretation of developmental anomalies from an archaeological context. PMID:23473075

van der Merwe, A E; Weston, D A; Oostra, R J; Maat, G J R

2013-04-01

232

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

PubMed Central

Objective To study the incidence of de novo multimorbidity across all ages in a geographically defined population with an emphasis on sex and ethnic differences. Design Historical cohort study. Setting All persons residing in Olmsted County, Minnesota, USA on 1 January 2000 who had granted permission for their records to be used for research (n=123?716). Participants We used the Rochester Epidemiology Project medical records-linkage system to identify all of the county residents. We identified and removed from the cohort all persons who had developed multimorbidity before 1 January 2000 (baseline date), and we followed the cohort over 14?years (1 January 2000 through 31 December 2013). Main outcome measures Incident multimorbidity was defined as the development of the second of 2 conditions (dyads) from among the 20 chronic conditions selected by the US Department of Health and Human Services. We also studied the incidence of the third of 3 conditions (triads) from among the 20 chronic conditions. Results The incidence of multimorbidity increased steeply with older age; however, the number of people with incident multimorbidity was substantially greater in people younger than 65?years compared to people age 65?years or older (28?378 vs 6214). The overall risk was similar in men and women; however, the combinations of conditions (dyads and triads) differed extensively by age and by sex. Compared to Whites, the incidence of multimorbidity was higher in Blacks and lower in Asians. Conclusions The risk of developing de novo multimorbidity increases steeply with older age, varies by ethnicity and is similar in men and women overall. However, as expected, the combinations of conditions vary extensively by age and sex. These data represent an important first step toward identifying the causes and the consequences of multimorbidity. PMID:25649210

St Sauver, Jennifer L; Boyd, Cynthia M; Grossardt, Brandon R; Bobo, William V; Finney Rutten, Lila J; Roger, Véronique L; Ebbert, Jon O; Therneau, Terry M; Yawn, Barbara P; Rocca, Walter A

2015-01-01

233

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

234

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

235

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

236

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

E-print Network

in the AutKB database (both syndromic and nonsyndromic sets) [13]. We found that all of the male sex-biased path- ways were also implicated by the ASD candidate genes (Additional file 1: Table S8). Taken together, these results demonstrate that pathways... , Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE: Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations...

Ziats, Mark N; Rennert, Owen M

2013-05-07

237

The development of sex differences in cardiovascular disease mortality: a historical perspective.  

PubMed Central

OBJECTIVES: Little is known about why males have higher cardiovascular disease (CVD) mortality rates than do females. An important factor that has hampered efforts in this regard is the lack of clarity about whether male excess mortality from CVD has existed throughout history. To answer this question, an investigation was conducted of trends in CVD mortality differences between the sexes from the time when data first became available until the present, including the full range of age groups. METHODS: Mortality statistics for CVD in England and Wales from 1861 through 1992 and in the United States from 1900 through 1991 were used. RESULTS: Three stages in the relationship between male and female CVD mortality were found: (1) An early stage of equal male and female mortality, (2) a stage of the appearance of sex differences in mortality, and (3) a stage with consistently present male excess mortality. CONCLUSION: Male excess mortality from CVD has not always been present in the historical record. Further research is needed to elucidate the causes of this excess mortality. PMID:9736875

Nikiforov, S V; Mamaev, V B

1998-01-01

238

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

239

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

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

The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: a rare case with an abnormal cellular chimerism.  

PubMed

Sex chromosome aberrations are known to cause congenital abnormalities and unexplained infertility in horses. Most of these anomalies remain undiagnosed because of the complexity of the horse karyotype and the lack of specialized laboratories that can perform such diagnoses. On the other hand, the utilization of microsatellite markers is a technique widely spread in horse breeding, mostly because of their usage in parentage tests. We studied the usage of a novel combination of diagnostic approaches in the evaluation of a very uncommon case of chromosomal abnormalities in a Spanish purebred colt, primarily detected using a commercial panel of short tandem repeat (STR) makers. Based on these results, we performed a full cytogenetic analysis using conventional and fluorescent in situ hybridization techniques with individual Equus caballus chromosome X and Equus caballus chromosome Y painting probes. We also tested the presence of two genes associated with the sexual development in horses and an extra novel panel of eight microsatellite markers specifically located in the sex chromosome pair. This is the first case report of a leukocyte chimerism between chromosomally normal (64,XY) and abnormal (63,X0) cell lines in horses. Our results indicate that the use of the short tandem repeat markers as a screening technique and as a confirmation utilizing cytogenetic techniques can be used as a very interesting, easy, and nonexpensive diagnostic approach to detect chromosomal abnormalities in the domestic horse. PMID:24612694

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

2014-05-01

242

Bisphenol A exposure during early development induces sex-specific changes in adult zebrafish social interactions.  

PubMed

Developmental bisphenol A (BPA) exposure is associated with adverse behavioral effects, although underlying modes of action remain unclear. Because BPA is a suspected xenoestrogen, the objective was to identify sex-based changes in adult zebrafish social behavior developmentally exposed to BPA (0.0, 0.1, or 1 ?M) or one of two control compounds (0.1 ?M 17?-estradiol [E2], and 0.1 ?M GSK4716, a synthetic estrogen-related receptor ? ligand). A test chamber was divided lengthwise so each arena held one fish unable to detect the presence of the other fish. A mirror was inserted at one end of each arena; baseline activity levels were determined without mirror. Arenas were divided into three computer-generated zones to represent different distances from mirror image. Circadian rhythm patterns were evaluated at 1-3 (= AM) and 5-8 (= PM) h postprandial. Adult zebrafish were placed into arenas and monitored by digital camera for 5 min. Total distance traveled, percent of time spent at mirror image, and number of attacks on mirror image were quantified. E2, GSK4716, and all BPA treatments dampened male activity and altered male circadian activity patterns; there was no marked effect on female activity. BPA induced nonmonotonic effects (response curve changes direction within range of concentrations examined) on male percent of time at mirror only in AM. All treatments produced increased percent of time at the mirror during PM. Male attacks on the mirror were reduced by BPA exposure only during AM. There were sex-specific effects of developmental BPA on social interactions, and time of day of observation affected results. PMID:25424546

Weber, Daniel N; Hoffmann, Raymond G; Hoke, Elizabeth S; Tanguay, Robert L

2015-01-01

243

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

PubMed

Aging is associated with conduit artery stiffening that is a risk factor for and can precede hypertension and ventricular dysfunction. Increases in mitochondria DNA (mtDNA) frequency have been correlated with aging. Mice with a mutation in the encoding domain (D257A) of a proof-reading deficient version of mtDNA polymerase-? (POLG) have musculoskeletal features of premature aging and a shortened lifespan. However, few studies using these mice have investigated the effects of mtDNA mutations on cardiovascular function. We hypothesized that the proof-reading deficient mtDNA POLG leads to arterial stiffening, hypertension, and ventricular hypertrophy. Ten to twelve month-old D257A mice (n=13) and age- and sex-matched wild-type controls (n=13) were catheterized for hemodynamic and ventricular function measurements. Left common carotid arteries (LCCA) were harvested for mechanical tests followed by histology. Male D257A mice had pulmonary and systemic hypertension, arterial stiffening, larger LCCA diameter (701±45 vs. 597±60?m), shorter LCCA axial length (8.96±0.56 vs. 10.10±0.80mm), and reduced hematocrit (29.1±6.1 vs. 41.3±8.1; all p<0.05). Male and female D257A mice had biventricular hypertrophy (p<0.05). Female D257A mice did not have significant increases in pressure or arterial stiffening, suggesting that the mechanisms of hypertension or arterial stiffening from mtDNA mutations differ based on sex. Our results lend insight into the mechanisms of age-related cardiovascular disease and may point to novel treatment strategies to address cardiovascular mortality in the elderly. PMID:25582357

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

2015-02-01

244

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

Microsoft Academic Search

Modes of sex determination are quite variable in vertebrates. The developmental decision to form a testis or an ovary can be influenced by one gene, several genes, environmental variables, or a combination of these factors. Nevertheless, certain morphogenetic aspects of sex determination appear to be conserved in amniotes. Here we clone fragments of nine candidate sex-determining genes from the snapping

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

2007-01-01

245

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

246

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

247

Sex Hormones and Immune Dimorphism  

PubMed Central

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

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

2014-01-01

248

HIV vulnerability of men who have sex with men in developing countries: Horizons studies, 2001-2008.  

PubMed

While male-to-male sexual behavior has been recognized as a primary risk factor for human immunodeficiency virus (HIV), research targeting men who have sex with men (MSM) in less-developed countries has been limited due to high levels of stigma and discrimination. In response, the Population Council's Horizons Program began implementing research activities in Africa and South America beginning in 2001, with the objectives of gathering information on MSM sexual risk behaviors, evaluating HIV-prevention programs, and informing HIV policy makers. The results of this nearly decade-long program are presented in this article as a summary of the Horizons MSM studies in Africa (Senegal and Kenya) and Latin America (Brazil and Paraguay), and include research methodologies, study findings, and interventions evaluated. We also discuss future directions and approaches for HIV research among MSM in developing countries. PMID:20297760

Geibel, Scott; Tun, Waimar; Tapsoba, Placide; Kellerman, Scott

2010-01-01

249

Accelerated bone formation and increased osteoblast number contribute to the abnormal tooth germ development in parathyroid hormone-related protein knockout mice.  

PubMed

Our previous study showed that tooth germs at late embryonic stage [later than embryonic day 17.5 (E17.5)] and neonatal homozygous parathyroid hormone-related protein (PTHrP)-knockout mice are compressed or penetrated by the surrounding alveolar bone tissue. In vivo and in vitro studies have shown that the development of the tooth germ proper is not disturbed, but insufficient alveolar bone resorption, due to the decreased number and hypofunction of osteoclasts, is the main cause of this abnormality. In addition to the insufficient alveolar bone resorption, progressive bone formation toward tooth germs was observed in homozygous mice, suggesting that accelerated bone formation also contributes to this abnormality. To further investigate this, homozygous mice at E14.0 and E15.5, when alveolar bone is forming, were used for histochemical and bone histomorphometric analyses. In contrast to the late embryonic stage, the alveolar bone did not yet compress developing tooth germs in homozygous mice on E14.0, but a larger amount of bone tissue was seen compared to wild-type littermates. Histomorphometric analysis of bone at E14.0 revealed that the osteoblast numbers and surfaces in the mandibles and in the bone collar of femora of homozygous mice were significantly higher than those of wild-type mice. However, unlike our previous study showing the osteoclast surface on E18.5 in homozygous mice to be significantly lower than that of wild-type mice, this study at E14.0 showed no significant difference between the two genotypes. To evaluate the amount of calcification around tooth germs, 3D images of mandibles were reconstructed from the calcein-labeled sections of the wild-type and mutant mice. Labeling was performed at E14.0, and the mice were sacrificed 1 h after the calcein injection to minimize the effect of bone resorption. Comparison of the 3D images revealed that the labeled surface was larger around developing tooth germs in homozygous mouse than in wild-type mouse. On day E15.5, osteoblasts approached the enamel organ of homozygous mice but this was not observed in wild-type mice. In this study, we report a systemic increase in osteoblast number and accelerated bone formation in homozygous PTHrP-knockout mice, both of which contribute to the abnormal tooth development. PMID:15542035

Kitahara, Y; Suda, N; Terashima, T; Baba, O; Mekaapiruk, K; Hammond, V E; Takano, Y; Ohyama, K

2004-11-01

250

Abnormal Head Position  

MedlinePLUS

... cause. Can a longstanding head turn lead to any permanent problems? Yes, a significant abnormal head posture could cause permanent ... occipitocervical synostosis and unilateral hearing loss. Are there any ... postures? Yes. Abnormal head postures can usually be improved depending ...

251

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

PubMed Central

Background Anastrepha ludens is among the pests that have a major impact on México's economy because it attacks fruits as citrus and mangoes. The Mexican Federal government uses integrated pest management to control A. ludens through the Programa Nacional Moscas de la Fruta [National Fruit Fly Program, SAGARPA-SENASICA]. One of the main components of this program is the sterile insect technique (SIT), which is used to control field populations of the pest by releasing sterile flies. Results To increase the efficiency of this technique, we have developed a genetic sexing strain (GSS) in which the sexing mechanism is based on a pupal colour dimorphism (brown-black) and is the result of a reciprocal translocation between the Y chromosome and the autosome bearing the black pupae (bp) locus. Ten strains producing wild-type (brown pupae) males and mutant (black pupae) females were isolated. Subsequent evaluations for several generations were performed in most of these strains. The translocation strain named Tapachula-7 showed minimal effect on survival and the best genetic stability of all ten strains. Genetic and cytogenetic analyses were performed using mitotic and polytene chromosomes and we succeeded to characterize the chromosomal structure of this reciprocal translocation and map the autosome breakpoint, despite the fact that the Y chromosome is not visible in polytene nuclei following standard staining. Conclusions We show that mitotic and polytene chromosomes can be used in cytogenetic analyses towards the development of genetic control methods in this pest species. The present work is the first report of the construction of GSS of Anastrepha ludens, with potential use in a future Moscafrut operational program. PMID:25472896

2014-01-01

252

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

253

Same-sex sexual behavior in birds: expression is related to social mating system and state of development at hatching  

Microsoft Academic Search

We report the findings of a phylogenetic comparative analysis examining patterns and frequency of occurrence of same-sex courtship and mounting behavior in birds. Our analysis has shown associations between same-sex sexual behavior and both mating system and degree of precociousness at hatching. The patterns of expression and frequency of occurrence of same-sex sexual behavior differed markedly for males and females.

Geoff R. MacFarlane; Simon P. Blomberg; Gisela Kaplan; L. J. Rogers

2006-01-01

254

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

PubMed Central

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

2012-01-01

255

Mice Lacking the Metalloprotease-Disintegrin MDC9 (ADAM9) Have No Evident Major Abnormalities during Development or Adult Life  

PubMed Central

MDC9 (ADAM9/meltrin ?) is a widely expressed and catalytically active metalloprotease-disintegrin protein that has been implicated in the ectodomain cleavage of heparin-binding epidermal growth factor-like growth factor (HB-EGF) and as an ? secretase for the amyloid precursor protein. In this study, we evaluated the expression of MDC9 during development and generated mice lacking MDC9 (mdc9?/? mice) to learn more about the function of this protein during development and in adults. During mouse development, MDC9 mRNA is ubiquitously expressed, with particularly high expression levels in the developing mesenchyme, heart and brain. Despite the ubiquitous expression of MDC9, mdc9?/? mice appear to develop normally, are viable and fertile, and do not have any major pathological phenotypes compared to wild-type mice. Constitutive and stimulated ectodomain shedding of HB-EGF is comparable in embryonic fibroblasts isolated from mdc9?/? and wild-type mice, arguing against an essential role of MDC9 in HB-EGF shedding in these cells. Furthermore, there were no differences in the production of the APP ? and ? secretase cleavage product (p3) and of ?- and ?-secretase cleavage product (A?) in cultured hippocampal neurons from mdc9?/? or wild-type mice, arguing against an essential major role of MDC9 as an ?-secretase in mice. Further studies, including functional challenges and an evaluation of potential compensation by, or redundancy with, other members of the ADAM family or perhaps even with other molecules will be necessary to uncover physiologically relevant functions for MDC9 in mice. PMID:11839819

Weskamp, Gisela; Cai, Hui; Brodie, Thomas A.; Higashyama, Shigeki; Manova, Katia; Ludwig, Thomas; Blobel, Carl P.

2002-01-01

256

Genes and brain sex differences.  

PubMed

Throughout development, numerous biological events occur that differentially affect males and females. Specifically, sex-determining genes that are triggered by the sex-chromosome complement initiate a series of events that determine an organism's sex and lead to the differentiation of the body in sex-specific ways. Such events contribute to many unique sex differences, including the susceptibility to different diseases. Although it was believed that sex hormones singularly differentiated the brain and body, there is emerging research showing that genes also play a direct role. In this chapter, we review this line of work and focus on the use of a unique mouse model that separates the effect of gonadal hormones and sex chromosomes. As genetic technology continues to advance, our understanding of the role that hormones and genes play in sex differences can be used to advance the physical and mental health of both men and women. PMID:21094886

Sánchez, Francisco J; Vilain, Eric

2010-01-01

257

Sex-specific gene expression during asexual development of Neurospora crassa.  

PubMed

The impact of loci that determine sexual identity upon the asexual, dominant stage of fungal life history has been well studied. To investigate their impact, expression differences between strains of different mating type during asexual development were assayed, with RNA sampled from otherwise largely isogenic mat A and mat a strains of Neurospora crassa at early, middle, and late clonal stages of development. We observed significant differences in overall gene expression between mating types across clonal development, especially at late development stages. The expression levels of mating-type genes and pheromone genes were assayed by reverse transcription and quantitative PCR, revealing expression of pheromone and receptor genes in strains of both mating types in all development stages, and revealing that mating type (mat) genes were increasingly expressed over the course of asexual development. Interestingly, among differentially expressed genes, the mat A genotype more frequently exhibited a higher expression level than mat a, and demonstrated greater transcriptional regulatory dynamism. Significant up-regulation of expression was observed for many late light-responsive genes at late asexual development stages. Further investigation of the impact of light and the roles of light response genes in asexual development of both mating types are warranted. PMID:22626843

Wang, Zheng; Kin, Koryu; López-Giráldez, Francesc; Johannesson, Hanna; Townsend, Jeffrey P

2012-07-01

258

Moral Development in Adulthood: Its Relationship to Age, Sex, and Education.  

ERIC Educational Resources Information Center

The relationships of age, gender, and educational level with moral development in 94 middle-class 28- to 55-year-old adults (32 males and 62 females) were studied. Subjects were administered Kohlberg's Moral Judgment Interview (MJI). Males scored higher on the MJI than females. Findings support the continued development of moral judgment through…

Bakken, Linda; Ellsworth, Randy

1990-01-01

259

Sex-specific gene expression during asexual development of Neurospora crassa  

PubMed Central

The impact of loci that determine sexual identity upon the asexual, dominant stage of fungal life history has been well studied. To investigate their impact, expression differences between strains of different mating type during asexual development were assayed, with RNA sampled from otherwise largely isogenic mat A and mat a strains of Neurospora crassaat early, middle, and late clonal stages of development. We observed significant differences in overall gene expression between mating types across clonal development, especially at late development stages. The expression levels of mating-type genes and pheromone genes were assayed by reverse transcription and quantitative PCR, revealing expression of pheromone and receptor genes instrains of both mating types in all development stages, and revealing that mating type (mat) genes were increasingly expressed over the course of asexual development. Interestingly, among differentially expressed genes, the mat A genotype more frequently exhibited a higher expression level than mat a, and demonstrated greater transcriptional regulatory dynamism. Significant up-regulation of expression was observed for many late light-responsive genes at late asexual development stages. Further investigation of the impact of light and the roles of light response genes in asexual development of both mating types are warranted. PMID:22626843

Wang, Zheng; Kin, Koryu; Lopez-Giraldez, Francesc; Johannesson, Hanna; Townsend, Jeffrey P.

2012-01-01

260

Abnormalities of caudal pharyngeal pouch development in Pbx1 knockout mice mimic loss of Hox3 paralogs.  

PubMed

Pbx1 is a TALE-class homeodomain protein that functions in part as a cofactor for Hox class homeodomain proteins. Previous analysis of the in vivo functions of Pbx1 by targeted mutagenesis in mice has revealed roles for this gene in skeletal patterning and development and in the organogenesis of multiple systems. Both RNA expression and protein localization studies have suggested a possible role for Pbx1 in pharyngeal region development. As several Hox mutants have distinct phenotypes in this region, we investigated the potential requirement for Pbx1 in the development of the pharyngeal arches and pouches and their organ derivatives. Pbx1 homozygous mutants exhibited delayed or absent formation of the caudal pharyngeal pouches, and disorganized patterning of the third pharyngeal pouch. Formation of the third pouch-derived thymus/parathyroid primordia was also affected, with absent or hypoplastic primordia, delayed expression of organ-specific differentiation markers, and reduced proliferation of thymic epithelium. The fourth pouch and the fourth pouch-derived ultimobranchial bodies were usually absent. These phenotypes are similar to those previously reported in Hoxa3(-/-) single mutants and Hoxa1(-/-);Hoxb1(-/-) or Hoxa3(+/-);Hoxb3(-/-);Hoxd3(-/-) compound mutants, suggesting that Pbx1 acts together with multiple Hox proteins in the development of the caudal pharyngeal region. However, some aspects of the Pbx1 mutant phenotype included specific defects that were less severe than those found in known Hox mutant mice, suggesting that some functions of Hox proteins in this region are Pbx1-independent. PMID:15581866

Manley, Nancy R; Selleri, Licia; Brendolan, Andrea; Gordon, Julie; Cleary, Michael L

2004-12-15

261

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

Microsoft Academic Search

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

Joan Villarroya; Beatriz Dorado; Maya R. Vilà; Elena Garcia-Arumí; Pere Domingo; Marta Giralt; Michio Hirano; Francesc Villarroya

2011-01-01

262

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

263

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

PubMed

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

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

2013-01-01

264

The function of Dmrt genes in vertebrate development: it is not just about sex.  

PubMed

The Dmrt genes encode a large family of transcription factors whose function in sexual development has been well studied in invertebrates and vertebrates. Their expression pattern is not restricted to the developing gonads, indicating that Dmrt genes might regulate other developmental processes. Here we review the expression pattern of several members of this family across species and summarize recent findings on the function of a subset of these genes in non-gonadal tissues. PMID:17720152

Hong, Chang-Soo; Park, Byung-Yong; Saint-Jeannet, Jean-Pierre

2007-10-01

265

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

PubMed Central

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

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

2012-01-01

266

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

SciTech Connect

In 1967 Mckusick et al. reported three siblings in Canada who had combine pituitary hormone deficiencies (CPHD). Since that report there have been several families with multiple affected members who share the common characteristics of autosomal recessive inheritance and clinical expression of pituitary deficiencies at an early age. We report here a CPHD family of Jamaican origin with three affected and two unaffected siblings. The affected siblings have evidence of severe growth failure, growth hormone deficiency, hypothyroidism and variable prolactin deficiency. Recently, in some families with CPHD a defect has been detected in the Pit-1 gene, which encodes a transcription factor involved in the differentiation of the pituitary and the production of growth hormone, TSH and prolactin. We are studying the Pit-1 gene in this family as a candidate gene that may explain the family phenotype. The Pit-1 gene has been analyzed in DNA extracted from blood. No gross deletion were detected in exons 2, 3, 4, 5 and 6 using exon-specific PCR assay developed in our laboratory. Exon 1 is also currently being analyzed. Single stand conformational polymorphism (SSCP) analysis, a screening technique for point mutations within genes, is being used to identify putative base pair changes in the Pit-1 gene. The exon findings will be confirmed using standard DNA sequencing procedures. If a Pit-1 gene is detected, this family would provide a novel presentation, since gonadotropin deficiency appears to be present. Alternatively, this family may represent a mutation on another yet unknown factor involved in normal pituitary development.

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

1994-09-01

267

NEW FRONTIER IN UNDERSTANDING THE MECHANISMS OF DEVELOPMENTAL ABNORMALITIES  

EPA Science Inventory

Recent advancements in molecular developmental biology afford an opportunity to apply newly developed tools for understanding the mechanisms of both normal and abnormal development. lthough a number of agents have been identified as causing developmental abnormalities, knowledge ...

268

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

PubMed

It has been well documented that FERTILIZATION-INDEPENDENT ENDOSPERM (FIE) plays important regulatory roles in diverse developmental processes in model plant Arabidopsis thaliana. However, it is largely unknown how FIE genes function in economically important crops. In this study, MhFIE gene, which was previously isolated from apomictic tea crabapple (Malus hupehensis Redh. var. pingyiensis), was introduced into tomato. The hemizygous transgenic tomato lines produced curly leaves and decreased in seed germination. In addition, the co-suppression of the transgenic MhFIE and endogenous (SlFIE) genes occurred in homozygous transgenic tomatoes. As a result, FIE silencing brought about abnormal phenotypes during reproductive development in tomato, such as increased sepal and petal numbers in flower, a fused ovule and pistil and parthenocarpic fruit formation. A yeast two-hybrid assay and bimolecular fluorescence complementation (BiFC) demonstrated that MhFIE interacted with a tomato protein, EZ2 (SlEZ2). Its ectopic expression and SlFIE co-suppression notably influenced the expression of genes associated with leaf, flower, and fruit development. Therefore, together with other PcG proteins, FIE was involved in the regulation of vegetative and reproductive development by modulating the expression of related genes in plants. PMID:23000466

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

2012-12-15

269

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

270

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

ERIC Educational Resources Information Center

This study assessed age and sex differences in the prevalence and incidence rates of syndromal social anxiety (SSA), as well as the predictive role of depressive symptoms and stressful life events on the development and persistence of SSA. A sample of 1,439 young people, between 11 and 14 years of age, was assessed twice within a 12-month…

Aune, Tore; Stiles, Tore C.

2009-01-01

271

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

272

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

273

[A boy with nail abnormalities].  

PubMed

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

Atiq, Nasirah; van Meurs, Tim

2013-01-01

274

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

PubMed

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

Inanlou, Mohammad Reza; Kablar, Boris

2005-01-01

275

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

NASA Astrophysics Data System (ADS)

The armyworm, Spodoptera litura (F.) is a polyphagous and important agricultural pest worldwide. In this study, we examined the effect of electron beam irradiation on developmental stages, reproduction, and DNA damage of S. litura. Eggs (0-24 h old), larvae (3rd instar), pupae (3 days old after pupation), and adults (24 h after emergence) were irradiated with electron beam irradiation of six levels between 30 and 250 Gy. When eggs were irradiated with 100 Gy, egg hatching was completely inhibited. When the larvae were irradiated, the larval period was significantly delayed, depending on the doses applied. At 150 Gy, the fecundity of adults that developed from irradiated pupae was entirely inhibited. However, electron beam irradiation did not induce the instantaneous death of S. litura adults. Reciprocal crosses between irradiated and unirradiated moths demonstrated that females were more radiosensitive than males. We also conducted the comet assay immediately after irradiation and over the following 5 days period. Severe DNA fragmentation in S. litura cells was observed just after irradiation and the damage was repaired during the post-irradiation period in a time-dependent manner. However, at more than 100 Gy, DNA damage was not fully recovered.

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

2014-03-01

276

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

277

The Tribolium castaneum ortholog of Sex combs reduced controls dorsal ridge development  

Technology Transfer Automated Retrieval System (TEKTRAN)

In insects, the boundary between the embryonic head and thorax is formed by the dorsal ridge, a fused structure composed of portions of the maxillary and labial segments. However, the mechanisms that promote development of this unusual structure remain a mystery. In Drosophila, mutations in the Hox ...

278

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

ERIC Educational Resources Information Center

Purpose: Theories of morphosyntactic development must account for between-child differences in morphosyntactic growth rates. This study extends Legate and Yang's (2007) theoretically motivated cross-linguistic approach to determine if variation in properties of parent input accounts for differences in the growth of tense productivity. Method:…

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

2011-01-01

279

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

280

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

281

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

282

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

PubMed Central

Although antisocial personality disorder (ASPD) is more common among males and borderline personality disorder (BPD) is more common among females, some (e.g., Paris, 1997) have suggested that the two disorders reflect multifinal outcomes of a single etiology. This assertion is based on several overlapping symptoms and features, including trait impulsivity, emotional lability, high rates of depression and suicide, and a high likelihood of childhood abuse and/or neglect. Furthermore, rates of ASPD are elevated in the first degree relatives of those with BPD, and concurrent comorbidity rates for the two disorders are high. In this article, we present a common model of antisocial and borderline personality development. We begin by reviewing issues and problems with diagnosing and studying personality disorders in children and adolescents. Next, we discuss dopaminergic and serotonergic mechanisms of trait impulsivity as predisposing vulnerabilities to ASPD and BPD. Finally, we extend shared risk models for ASPD and BPD by specifying genetic loci that may confer differential vulnerability to impulsive aggression and mood dysregulation among males and impulsive self-injury and mood dysregulation among females. Although the precise mechanisms of these sex-moderated genetic vulnerabilities remain poorly understood, they appear to interact with environmental risk factors including adverse rearing environments to potentiate the development of ASPD and BPD. PMID:19583882

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

2009-01-01

283

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

284

Analysis of the multiple roles of gld-1 in germline development: Interactions with the sex determination cascade and the glp-1 signaling pathway  

SciTech Connect

The Caenorhabditis elegans gene gld-1 is essential for oocyte development; in gld-1 (null) hermaphrodites, a tumor forms where oogenesis would normally occur. We use genetic epistasis analysis to demonstrate that tumor formation is dependent on the sexual fate of the germline. When the germline sex determination pathway is set in the female mode (terminal fem/fog genes inactive), gld-1 (null) germ cells exit meiotic prophase and proliferate to form a tumor, but when the pathway is et in the male mode, they develop into sperm. We conclude that the gld-1 (null) phenotype is cell-type specific and that gld-1(+) acts at the end of the cascade to direct oogenesis. We also use cell ablation and epistasis analysis to examine the dependence of tumor formation on the glp-1 signaling pathway. Although glp-1 activity promotes tumor growth, it is not essential for tumor formation by gld-1 (null) germ cells. These data also reveal that gld-1(+) plays a nonessential (and sex nonspecific) role in regulating germ cell proliferation before their entry into meiosis. Thus gld-1(+) may negatively regulate proliferation at two distinct points in germ cell development: before entry into meiotic prophase in both sexes (nonessential premeiotic gld-1 function) and during meiotic prophase when the sex determination pathway is set in the female mode (essential meiotic gld-1 function). 46 refs., 9 figs., 4 tabs.

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

1995-02-01

285

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

286

Gene targeting of Desrt, a novel ARID class DNA-binding protein, causes growth retardation and abnormal development of reproductive organs.  

PubMed

We have cloned and characterized a novel murine DNA-binding protein Desrt, with a motif characteristic of the ARID (A-T rich interaction domain) family of transcription factors. The Desrt gene encodes an 83-kD protein that is shown to bind DNA and is widely expressed in adult tissues. To examine the in vivo function of Desrt, we have generated mice with a targeted mutation in the ARID domain of Desrt. Homozygous mutants have reduced viability, pronounced growth retardation, and a high incidence of abnormalities of the female and male reproductive organs including cryptorchidism. This may thus serve as a model to dissect the mechanisms involved in the development of the reproductive tract including testicular descent. Gene-targeted mice also display a reduction in the thickness of the zona reticularis of the adrenal gland and transient aberrations of the T and B cell compartments of primary lymphoid organs. These data show that this novel DNA-binding protein, Desrt, has a nonredundant function during growth and in the development of the reproductive system. PMID:11483573

Lahoud, M H; Ristevski, S; Venter, D J; Jermiin, L S; Bertoncello, I; Zavarsek, S; Hasthorpe, S; Drago, J; de Kretser, D; Hertzog, P J; Kola, I

2001-08-01

287

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

PubMed Central

The susceptibility of females to anencephaly is well established and has been suggested to result from a slower rate of growth and development of female embryos during cranial neurulation. We have tested this hypothesis by measuring the rates of growth and development, both in utero and in vitro, of male and female embryos of the curly tail (ct) mutant mouse strain, in which cranial neural tube defects occur primarily in females. Embryonic growth was assessed by increase in protein content, while development progression was judged from increase in somite number and morphological score. Embryos were sexed by use of the polymerase chain reaction to amplify a DNA sequence specific to the Y chromosome, and by sex chromatin analysis. We find that, during neurulation (between 8.5 and 10.5 days of gestation), males are advanced in growth and development relative to their female litter mates, but that the rates of growth and development do not differ between the sexes during this period. We conclude that rate of embryonic growth and development is unlikely to determine susceptibility to cranial neural tube defects. It seems more likely that male and female embryos differ in some specific aspect(s) of the neurulation process that increases the susceptibility of females to development of anencephaly. Images PMID:8064816

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

1994-01-01

288

Mortality from congenital abnormality in Malaysia 1991-1997: the effect of economic development on death due to congenital heart disease.  

PubMed

An analysis was done of available data from the Department of Statistics Malaysia, on the type of congenital abnormality contributing to death, to determine whether progress in health care over recent years was associated with any decline in mortality from congenital abnormality. A significant decline in death due to congenital abnormality was observed between 1991 and 1996. This was attributable to a decline in deaths due to congenital heart disease occurring because of improvements in cardiac surgical services for infants. In 1997 death due to congenital heart disease increased significantly. This could be attributed to improvements in the diagnosis of congenital heart disease in the neonate. PMID:11771084

Ho, J J

2001-06-01

289

Structurally abnormal human autosomes  

SciTech Connect

Chapter 25, discusses structurally abnormal human autosomes. This discussion includes: structurally abnormal chromosomes, chromosomal polymorphisms, pericentric inversions, paracentric inversions, deletions or partial monosomies, cri du chat (cat cry) syndrome, ring chromosomes, insertions, duplication or pure partial trisomy and mosaicism. 71 refs., 8 figs.

NONE

1993-12-31

290

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

291

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

292

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

293

Morphological abnormalities among lampreys  

USGS Publications Warehouse

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

Manion, Patrick J.

1967-01-01

294

Sex differences in cardiomyopathies.  

PubMed

Cardiomyopathies are a heterogeneous group of heart muscle diseases with a variety of specific phenotypes. According to the contemporary European Society of Cardiology classification, they are classified into hypertrophic (HCM), dilated (DCM), arrhythmogenic right ventricular (ARVC), restrictive (RCM), and unclassified cardiomyopathies. Each class is aetiologically further categorized into inherited (familial) and non-inherited (non-familial) forms. There is substantial evidence that biological sex is a strong modulator of the clinical manifestation of these cardiomyopathies, and sex-specific characteristics are detectable in all classes. For the clinician, it is important to know the sex-specific aspects of clinical disease expression and the potential modes of inheritance or the hereditary influences underlying the development of cardiomyopathies, since these may aid in diagnosing such diseases in both sexes. PMID:24464619

Meyer, Sven; van der Meer, Peter; van Tintelen, J Peter; van den Berg, Maarten P

2014-03-01

295

Safe sex  

NSDL National Science Digital Library

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

Olivia Worland (Purdue University;Biological Sciences)

2008-07-09

296

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

PubMed

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

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

2013-10-01

297

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

PubMed

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

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

2012-09-01

298

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

PubMed

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 parameters investigated. Animals were sampled longitudinally during their development and there were significant age effects from birth to weaning in both species. Total and differential leucocyte counts and erythrocyte sedimentation rates increased just prior to weaning then decreased. Haematocrits declined whilst total circulating immunoglobulin G concentrations increased. Body temperatures remained constant throughout the postnatal period. Differences between the species were seen in total leucocyte counts and in polymorphonuclear cells and eosinophils. Southern elephant seals had higher concentrations than grey seals and total leucocyte counts in the former were among the highest reported for mammals. PMID:12697319

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

2003-01-01

299

"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

300

Abnormal Uterine Bleeding  

MedlinePLUS

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

301

Tooth - abnormal colors  

MedlinePLUS

... age when teeth are forming Poor oral care Porphyria Severe neonatal jaundice Too much fluoride from environmental ... abnormal coloration began Foods you have been eating Medications you are taking Personal and family health history ...

302

Chromosome Imbalance as a Driver of Sex Disparity in Disease  

PubMed Central

It has long been recognized that men and women exhibit different risks for diverse disorders ranging from metabolic to autoimmune diseases. However, the underlying causes of these disparities remain obscure. Analysis of patients with chromosomal abnormalities, including Turner syndrome (45X) and Klinefelter syndrome (47XXY), has highlighted the importance of X-linked gene dosage as a contributing factor for disease susceptibility. Escape from X-inactivation and X-linked imprinting can result in transcriptional differences between normal men and women as well as in patients with sex chromosome abnormalities. Animal models support a role for X-linked gene dosage in disease with O-linked N-acetylglucosamine transferase (OGT) emerging as a prime candidate for a pleiotropic effector. OGT encodes a highly regulated nutrient-sensing epigenetic modifier with established links to immunity, metabolism and development. PMID:25031659

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

2014-01-01

303

Long-term recovery from hippocampal-related behavioral and biochemical abnormalities induced by noise exposure during brain development. Evaluation of auditory pathway integrity.  

PubMed

Sound is an important part of man's contact with the environment and has served as critical means for survival throughout his evolution. As a result of exposure to noise, physiological functions such as those involving structures of the auditory and non-auditory systems might be damaged. We have previously reported that noise-exposed developing rats elicited hippocampal-related histological, biochemical and behavioral changes. However, no data about the time lapse of these changes were reported. Moreover, measurements of auditory pathway function were not performed in exposed animals. Therefore, with the present work, we aim to test the onset and the persistence of the different extra-auditory abnormalities observed in noise-exposed rats and to evaluate auditory pathway integrity. Male Wistar rats of 15 days were exposed to moderate noise levels (95-97 dB SPL, 2 h a day) during one day (acute noise exposure, ANE) or during 15 days (sub-acute noise exposure, SANE). Hippocampal biochemical determinations as well as short (ST) and long term (LT) behavioral assessments were performed. In addition, histological and functional evaluations of the auditory pathway were carried out in exposed animals. Our results show that hippocampal-related behavioral and biochemical changes (impairments in habituation, recognition and associative memories as well as distortion of anxiety-related behavior, decreases in reactive oxygen species (ROS) levels and increases in antioxidant enzymes activities) induced by noise exposure were almost completely restored by PND 90. In addition, auditory evaluation shows that increased cochlear thresholds observed in exposed rats were re-established at PND 90, although with a remarkable supra-threshold amplitude reduction. These data suggest that noise-induced hippocampal and auditory-related alterations are mostly transient and that the effects of noise on the hippocampus might be, at least in part, mediated by the damage on the auditory pathway. However, we cannot exclude that a different mechanism might be responsible for the observed hippocampal-related changes. PMID:24911434

Uran, S L; Gómez-Casati, M E; Guelman, L R

2014-10-01

304

Meniscal abnormalities in the asymptomatic population at MR imaging.  

PubMed

Two hundred eighty meniscal horns in 64 asymptomatic volunteers in the 2nd to 8th decades of life were analyzed for meniscal abnormalities. Grade 1, 2, and 3 changes were present in essentially all decades. There was at least a 25% prevalence of meniscal signal abnormalities as early as the 2nd decade. The prevalence of meniscal abnormalities increased sharply with age. The prevalence of all signal abnormalities correlated with age, grade 2 changes having the highest correlation coefficient (+.88). The correlation coefficient for grades 1 and 3 changes were +.60 and +.71, respectively. The posterior horn of the medial meniscus had a significantly higher (P less than .02) prevalence of abnormalities than did the other meniscal locations. There was no significant correlation between subject weight or sex and meniscal signal. The authors conclude that there is a baseline prevalence of meniscal signal in the asymptomatic population. PMID:2217786

Kornick, J; Trefelner, E; McCarthy, S; Lange, R; Lynch, K; Jokl, P

1990-11-01

305

Estrogenic exposure affects metamorphosis and alters sex ratios in the northern leopard frog (Rana pipiens): identifying critically vulnerable periods of development.  

PubMed

During the transformation from larval tadpole to juvenile frog, there are critical periods of metamorphic development and sex differentiation that may be particularly sensitive to endocrine disruption. The aim of the present study was to identify sensitive developmental periods for estrogenic endocrine disruption in the northern leopard frog (Rana pipiens) using short, targeted exposures to the synthetic estrogen, ethinylestradiol (EE2). Post-hatch tadpoles (Gosner stage 27) were exposed over five distinct periods of metamorphosis: early (stage 27-30), mid (stage 30-36), early and mid (stage 27-36), late (stage 36-42), and the entire metamorphic period (chronic; stage 27-42). For each period, animals were sampled immediately following the EE2 exposure and at metamorphic climax (stage 42). The effects of EE2 on metamorphic development and sex differentiation were assessed through measures of length, weight, developmental stage, days to metamorphosis, sex ratios and incidence of gonadal intersex. Our results show that tadpoles exposed to EE2 during mid-metamorphosis were developmentally delayed immediately following exposure and took 2 weeks longer to reach metamorphic climax. In the unexposed groups, there was low proportion (0.15) of intersex tadpoles at stage 30 and gonads appeared to be morphologically distinct (male and female) in all individuals by stage 36. Tadpoles exposed early in development displayed a strong female-biased sex ratio compared to the controls. Moreover, these effects were also seen at metamorphic climax, approximately 2-3 months after the exposure period, demonstrating that transient early life-stage exposure to estrogen can induce effects on the reproductive organs that persist into the beginning of adult life-stages. PMID:18430423

Hogan, Natacha S; Duarte, Paula; Wade, Michael G; Lean, David R S; Trudeau, Vance L

2008-05-01

306

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

Microsoft Academic Search

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

Kim Wallen

1996-01-01

307

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

Microsoft Academic Search

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

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

2007-01-01

308

Issues in the Development of HIV-Preventive Interventions for Men Who Have Sex with Men (MSM) in Rural Areas  

Microsoft Academic Search

Interventions aimed at reducing HIV-related sexual risk behaviors among men who have sex with men (MSM) have been highly successful in urban areas in reducing the incidence of new cases of HIV infection. In rural areas, where the rates of infection are increasing, issues of culture, population density, isolation, and lack of access to health care services present different challenges

Deborah Bray Preston; Anthony R. D'Augelli; Richard E. Cain; Frederick W. Schulze

2002-01-01

309

Issues in the Development of HIV-Preventive Interventions for Men Who Have Sex With Men (MSM) in Rural Areas  

Microsoft Academic Search

Interventions aimed at reducing HIV-related sexual risk behaviors among men who have sex with men (MSM) have been highly successful in urban areas in reducing the incidence of new cases of HIV infection. In rural areas, where the rates of infection are increasing, issues of culture, population density, isolation, and lack of access to health care services present different challenges

Deborah Bray Preston; Anthony R. D'Augelli; Richard E. Cain; Frederick W. Schulze

2002-01-01

310

"Saving Sex for Later": Developing a Parent-Child Communication Intervention to Delay Sexual Initiation among Young Adolescents  

ERIC Educational Resources Information Center

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

O'Donnell, Lydia; Wilson-Simmons, Renee; Dash, Kim; Jeanbaptiste, Varzi; Myint-U, Athi; Moss, Jesse; Stueve, Ann

2007-01-01

311

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

312

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.

313

Relational development in children with cleft lip and palate: influence of the waiting period prior to the first surgical intervention and parental psychological perceptions of the abnormality  

PubMed Central

Background The birth of a child with a cleft lip, whether or not in association with a cleft palate, is a traumatic event for parents. This prospective, multidisciplinary and multi-centre study aims to explore the perceptions and feelings of parents in the year following the birth of their child, and to analyse parent–child relationships. Four inclusion centres have been selected, differing as to the date of the first surgical intervention, between birth and six months. The aim is to compare results, also distinguishing the subgroups of parents who were given the diagnosis in utero and those who were not. Methods/Design The main hypothesis is that the longer the time-lapse before the first surgical intervention, the more likely are the psychological perceptions of the parents to affect the harmonious development of their child. Parents and children are seen twice, when the child is 4 months (T0) and when the child is one year old (T1). At these two times, the psychological state of the child and his/her relational abilities are assessed by a specially trained professional, and self-administered questionnaires measuring factors liable to affect child–parent relationships are issued to the parents. The Alarme Détresse BéBé score for the child and the Parenting Stress Index score for the parents, measured when the child reaches one year, will be used as the main criteria to compare children with early surgery to children with late surgery, and those where the diagnosis was obtained prior to birth with those receiving it at birth. Discussion The mental and psychological dimensions relating to the abnormality and its correction will be analysed for the parents (the importance of prenatal diagnosis, relational development with the child, self-image, quality of life) and also, for the first time, for the child (distress, withdrawal). In an ethical perspective, the different time lapses until surgery in the different protocols and their effects will be analysed, so as to serve as a reference for improving the quality of information during the waiting period, and the quality of support provided for parents and children by the healthcare team before the first surgical intervention. Trial Registration ClinicalTrials.gov Identifier: NCT00993993. PMID:22682069

2012-01-01

314

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

315

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

316

Fetal sex and the circulating renin-angiotensin system during early gestation in women who later develop preeclampsia or gestational hypertension.  

PubMed

There are fetal sex-specific differences in the balance between angiotensin (Ang) II and Ang-(1-7) in the maternal circulation during pregnancy. To determine whether at 15 weeks' gestation plasma levels of Ang II and Ang-(1-7), as well as levels of prorenin and Ang-converting enzyme (ACE), predicted the development of gestational hypertension (GH) or preeclampsia (PreE) and were associated with estimates of fetal and maternal health, women who later developed GH (n=50) or PreE (n=50) were compared with body mass index-matched controls (n=100). Women who subsequently developed PreE or GH had increased Ang-(1-7) levels at 15 weeks' gestation compared with women with normal pregnancies. When separated by fetal sex, this difference was seen only in women carrying a female fetus. Prorenin and ACE concentrations were not useful biomarkers for the prediction of either PreE or GH at 15 weeks' gestation. Women with a male fetus who developed PreE and women who subsequently developed GH had increased blood pressures at 15 weeks' gestation compared with women with normal pregnancies, suggesting that these women were on an early trajectory for the development of hypertension. We propose that measurement of Ang-(1-7) during early gestation could be useful in predicting, those women who will go on to develop new-onset hypertension in pregnancy. PMID:23782994

Sykes, S D; Pringle, K G; Zhou, A; Dekker, G A; Roberts, C T; Lumbers, E R

2014-02-01

317

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

318

Sex during Pregnancy  

MedlinePLUS

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

319

Electrocardiographic abnormalities in centenarians: impact on survival  

PubMed Central

Background The centenarian population is gradually increasing, so it is becoming more common to see centenarians in clinical practice. Electrocardiogram abnormalities in the elderly have been reported, but several methodological biases have been detected that limit the validity of their results. The aim of this study is to analyse the ECG abnormalities in a prospective study of the centenarian population and to assess their impact on survival. Method We performed a domiciliary visit, where a medical history, an ECG and blood analysis were obtained. Barthel index (BI), cognitive mini-exam (CME) and Charlson index (ChI) were all determined. Patients were followed up by telephone up until their death. Results A total of 80 centenarians were studied, 26 men and 64 women, mean age 100.8 (SD 1.3). Of these, 81% had been admitted to the hospital at least once in the past, 81.3% were taking drugs (mean 3.3, rank 0–11). ChI was 1.21 (SD 1.19). Men had higher scores both for BI (70 -SD 34.4- vs. 50.4 -SD 36.6-, P?=?.005) and CME (16.5 -SD 9.1- vs. 9.1 –SD 11.6-, P?=?.008); 40.3% of the centenarians had anaemia, 67.5% renal failure, 13% hyperglycaemia, 22.1% hypoalbuminaemia and 10.7% dyslipidaemia, without statistically significant differences regarding sex. Only 7% had a normal ECG; 21 (26.3%) had atrial fibrillation (AF), 30 (37.5%) conduction defects and 31 (38.8%) abnormalities suggestive of ischemia, without sex-related differences. A history of heart disease was significantly associated with the presence of AF (P?=?.002, OR 5.2, CI 95% 1.8 to 15.2) and changes suggestive of ischemia (P?=?.019, OR 3.2, CI 95% 1.2-8.7). Mean survival was 628?days (SD 578.5), median 481?days. Mortality risk was independently associated with the presence of AF (RR 2.0, P?=?.011), hyperglycaemia (RR 2.2, P?=?.032), hypoalbuminaemia (RR 3.5, P?abnormalities are common in centenarians, they are not related to sex, functional capacity or cognitive impairment. The only abnormality that has an impact on survival is AF. PMID:22520618

2012-01-01

320

Factors causing sex differences in birds  

PubMed Central

In recent years, increasing evidence suggests that sex differences in the phenotype of all tissues is influenced by the inequality of effects of sex chromosome genes in the two sexes. In birds, genes on the Z chromosome are not well dosage compensated, so that most Z genes are expressed higher in ZZ male cells than in ZW female cells. The sex difference in expression of Z and W genes is likely to cause sex differences within cells, in addition to the sex differences caused by different levels of testicular and ovarian hormones. The sexual imbalance in cell physiology has implications for aviculture and novel developments in the poultry industry. PMID:24353746

Arnold, Arthur P.; Itoh, Yuichiro

2013-01-01

321

Factors causing sex differences in birds.  

PubMed

In recent years, increasing evidence suggests that sex differences in the phenotype of all tissues is influenced by the inequality of effects of sex chromosome genes in the two sexes. In birds, genes on the Z chromosome are not well dosage compensated, so that most Z genes are expressed higher in ZZ male cells than in ZW female cells. The sex difference in expression of Z and W genes is likely to cause sex differences within cells, in addition to the sex differences caused by different levels of testicular and ovarian hormones. The sexual imbalance in cell physiology has implications for aviculture and novel developments in the poultry industry. PMID:24353746

Arnold, Arthur P; Itoh, Yuichiro

2011-07-01

322

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

PubMed Central

Objective: Sex is an important determinant of neonatal outcomes and may have a significant role in the physiologic response to maternal chorioamnionitis. Our goal was to determine cerebral blood flow (CBF) parameters by sex and subsequent neurodevelopment in healthy term infants exposed to chorioamnionitis. Study Design: CBF by Doppler ultrasound in anterior and middle cerebral (ACA, MCA) and basilar arteries were analyzed for time-averaged maximum velocity (TAMX) and corrected resistive index in 52 term control and chorioamnionitis-exposed infants between 24 and 72?h after birth. Placental pathology confirmed histologic evidence of chorioamnionitis (HC). Bayley Scales of Infant Development-III were administered at 12 months. Result: HC male infants had significantly greater TAMX in the MCA and lower mean MCA and ACA resistance than HC females. Abnormal CBF correlated negatively with neurodevelopmental outcome. Conclusion: CBF is altered in term infants with histologically confirmed chorioamnionitis compared with control infants with sex-specific differences. PMID:24457257

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

2014-01-01

323

Sex Hormones, Insulin Sensitivity, and Diabetes Mellitus  

Microsoft Academic Search

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

Cristin M. Bruns; Joseph W. Kemnitz

324

Sex in the mucoralean fungi.  

PubMed

Sexual development is extant in virtually all eukaryotic species, including throughout the kingdom Fungi. Positioned within the opisthokonts along with metazoans, fungi serve as model systems to elucidate the genetics and impact of sexual development. Basal fungal lineages such as the Mucoralean fungi provide a unique basis to study sexual reproduction, in which common ancestral traits found in both animal and fungal lineages may be conserved. This review discusses the sexual development, sex loci, and evolution of the sex locus in the Mucoralean fungi, which sheds light on our understanding of the evolution and functions of sex. PMID:25175551

Lee, Soo Chan; Heitman, Joseph

2014-12-01

325

Genetic Differentiation and Efficient Sex-specific Marker Development of a Pair of Y- and X-linked Markers in Yellow Catfish  

PubMed Central

Pf62-Y and Pf62-X is a pair of allelic Y chromosome-linked and X chromosome-linked markers, and have been used to identify YY super-males, XY males and XX females for commercial production of all-male populations in yellow catfish (Pelteobagrus fulvidraco). However, the SCAR primers used previously have only two nucleotide difference, which restricts the wide utility because of nucleotide polymorphism. In this study, a continuous 8102 bp Pf62-Y sequence and a 5362 bp Pf62-X sequence have been cloned by genome walking, and significant genetic differentiation has been revealed between the corresponding X and Y chromosome allele sequences. Moreover, three pairs of primers were designed to efficiently identify YY super-males, XY males and XX females in an artificial breeding population, and to distinguish XY males and XX females in various wild populations. Together, the three new sex-specific genetic markers develop a highly stable and efficient method for genetic sex identification and sex control application in sustainable aquaculture of all-male yellow catfish. PMID:24250249

Dan, Cheng; Mei, Jie; Wang, Da; Gui, Jian-Fang

2013-01-01

326

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

327

Sex films  

Microsoft Academic Search

human films simultaneously, one hour in small groups to dig into feelings and attitudes, and lunch with a showing of erotic art from many cultures and ages with taped erotic music. Then we deal with the varieties of sex, with male and female masturbation, male and female homosexuality, and a couple of paraphilias films--sado-masochism, beastiality, and the like--shown simultaneously. These

Robert T. Francoeur

1977-01-01

328

Abnormal Psychology Psychology 280  

E-print Network

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

Liu, Taosheng

329

Injecting drug users, sex workers and men who have sex with men: a national cross-sectional study to develop a framework and prevalence estimates for national HIV/AIDS programmes in the Republic of Serbia  

PubMed Central

Objective The aim of this study was to develop a framework and best estimates of prevalence for the most at risk populations (MARPs) for HIV/AIDS to include sex workers (SW), men who have sex with men (MSM) and injecting drug users (IDUs) in order to evaluate national HIV/AIDS programmatic targets across the Republic of Serbia. Design A national, cross-sectional study and direct enumeration, multiplier and benchmark methods with integrated bio-behavioural surveys, capture/recapture and methods with Wald and Clopper-Pearson CIs were used. Setting This study was carried out in the three largest cities and main regions of Serbia, the capital city, Belgrade, (population 1?639?121 persons), the Vojvodina region with main city Novi Sad (population 335?701) and the rest of Serbia with main city Nis (population 257?867). Participants A total of 1301 respondents from the defined MARPs completed the survey in the 2009/2010 period across the three cities. Primary outcome measures Estimates of the hidden numbers at risk of HIV/AIDS. Results It was estimated that there were 1775–6027 SW between 18 and 49?years in Serbia in 2009. For MSM, national estimates for 2009 ranged from 20?789 to 90?104 individuals aged between 20 and 49?years. For IDU, a possible range of 12?682–48?083 individuals aged between 15 and 59?years in 2009 was estimated. Conclusions For service planning across Central and Eastern Europe, it is important to highlight how credible estimates can be achieved and compared with numbers within HIV/AIDS-prevention programmes. Within needle exchange programmes, only 5.4–20.5% of the estimated population was observed and this proportion was lower within methadone treatment data. Results have implications for future IDU treatment and HIV incidence and spread across all populations at risk. PMID:23645910

Comiskey, Catherine; Dempsey, Orla; Simic, Danijela; Baroš, Sladjana

2013-01-01

330

New Perspectives in the Studies on Endocannabinoid and Cannabis: Abnormal Behaviors Associate With CB1 Cannabinoid Receptor and Development of Therapeutic Application  

Microsoft Academic Search

Tetrahydrocannabinol (9-THC), the major psychoactive component of mari- juana, induces catalepsy-like immobilization and impairment of spatial memory in rats. 9-THC also induces aggressive behavior in isolated housing stress. These abnormal behaviors could be counteracted by SR141716A, a CB1 cannabinoid receptor antagonist. Also 9-THC inhibited release of glutamate in the dorsal hippocampus, but this inhibition could be antagonized by SR141716A in

Michihiro Fujiwara; Nobuaki Egashira

2004-01-01

331

Electrophysiological abnormalities in the transplanted human heart.  

PubMed Central

Fourteen relatively long term survivors of cardiac transplantation underwent systematic electrophysiological evaluation and ambulatory electrocardiographic monitoring. Six patients had prolonged conduction intervals during sinus rhythm. Sinus node function could be assessed in all donor atria and in 10 recipient atria. Sinus node recovery times were prolonged in four of the donor atria and in six recipient atria. In the donor atria abnormalities of sinus node automaticity were invariably associated with abnormalities of sinoatrial conduction. Four patients showed functional duality of atrioventricular nodal conduction during programmed extrastimulation, but no patient developed re-entrant arrhythmia. During ambulatory electrocardiographic monitoring no pronounced tachyarrhythmias were recorded. Three patients showed abnormalities of sinus node impulse formation. All three patients had abnormal sinus node recovery times during their electrophysiological study. Long term survivors of cardiac transplantation have a high incidence of electrophysiological abnormalities. Abnormalities of donor sinus node function are probably of clinical significance. The clinical significance of abnormalities detected within the atrioventricular conduction system of the denervated heart remains to be elucidated. PMID:6360191

Bexton, R S; Nathan, A W; Hellestrand, K J; Cory-Pearce, R; Spurrell, R A; English, T A; Camm, A J

1983-01-01

332

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

333

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

PubMed

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

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

2014-05-01

334

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

PubMed Central

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

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

2014-01-01

335

Sex determination: the power of DMRT1.  

PubMed

DMRT1, a mammalian gene related to sex-determining genes in flies and nematodes, is located in a region of the human genome that is important for sex development. This suggests that a common thread might run through the evolution of sex-determining mechanisms from worms to humans. New data show that DMRT1 can cause sex reversal in chickens, adding support to this hypothesis. PMID:19819582

Koopman, Peter

2009-11-01

336

Genomics of sex determination.  

PubMed

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

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

2014-04-01

337

The Molecular Basis Of Male Sex Determination During Temperature-Dependent Sex Determination.  

E-print Network

??The red-eared slider turtle (Trachemys scripta) possesses temperature-dependent sex determination (TSD) in which the incubation temperature of the developing embryo determines gonadal sex. Although a… (more)

Bieser, Kayla

2013-01-01

338

Sex-Role Transcendence as a Guide to Intervention in Educational Systems to End Sex Discrimination in Education. Revised.  

ERIC Educational Resources Information Center

This study undertook the following tasks: (1) to review the social science literature on sex roles, sex role socialization and sex discrimination in education; (2) to develop a model that accounts for sex discrimination and indicates how to eliminate it; and (3) to design a program to test the model developed. The study made several assumptions.…

Hefner, Robert; And Others

339

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

340

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

341

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

342

Thalassemia and abnormal hemoglobin  

Microsoft Academic Search

Thalassemia and abnormal hemoglobins are common genetic disorders in Asia. Thalassemia is not only an important public health\\u000a problem but also a socio-economic problem of many countries in the region. The approach to deal with the thalassemic problem\\u000a is to prevent and control birth of new cases. This requires an accurate identification of the couple at high risk for thalassemia.

Suthat Fucharoen; Pranee Winichagoon

2002-01-01

343

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

PubMed Central

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

2014-01-01

344

Role of angiotensin II in arterial pressure and renal hemodynamics in rats with altered renal development: age- and sex-dependent differences.  

PubMed

Numerous studies have demonstrated that angiotensin II (ANG II) is involved in hypertension and renal changes occurring as a consequence of an adverse event during renal development. However, it was unknown whether this involvement is sex and age dependent. This study examines whether the increments in arterial pressure (AP) and in the renal sensitivity to ANG II are sex and age dependent in rats with altered renal development. It also evaluates whether the ANG II effects are accompanied by increments in AT(1) receptors and oxidative stress. Experiments were performed in 3- to 4- and 10- to 11-mo-old rats treated with vehicle or an AT(1) receptor antagonist (ARAnp) during the nephrogenic period. ARAnp-treated rats were hypertensive, but an age-dependent rise in AP was only found in males. Three days of treatment with candesartan (7 mg·kg(-1)·day(-1)) led to a fall of AP that was greater (P < 0.05) in male than in female 10- to 11-mo-old ARAnp-treated rats. Oxidated proteins were elevated (P < 0.05), and the decrease in AP elicited by candesartan was reduced (P < 0.05) when these rats are also treated with tempol (18 mg·kg(-1)·day(-1)). Hypertension was not maintained by an elevation of AT(1) receptors in kidneys and mesenteric arteries. The acute renal hemodynamic response to ANG II (30 ng·kg(-1)·min(-1)) was similarly enhanced (P < 0.05) in both sexes of ARAnp-treated rats at 3-4 but not at 10-11 mo of age. Our results suggest that an adverse event during the nephrogenic period induces an ANG II-dependent increment in AP that is aggravated only in males during aging and that oxidative stress but not an increase in AT(1) receptor contributes to the rise in AP. This study also shows that the renal hemodynamic sensitivity to ANG II is transitorily enhanced in both sexes of rats with altered renal development. PMID:23097470

Reverte, Virginia; Tapia, Antonio; Baile, Goretti; Gambini, Juan; Gíménez, Ignacio; Llinas, M Teresa; Salazar, F Javier

2013-01-01

345

Sea bass (Dicentrarchus labrax) androgen receptor: cDNA cloning, tissue-specific expression, and mRNA levels during early development and sex differentiation.  

PubMed

Androgens play key roles in vertebrate sex differentiation, gonadal maturation and reproductive behaviour and their actions are generally mediated through specific nuclear receptors. The present study describes the isolation, sequencing and characterization of the cDNA encoding the androgen receptor (AR) in the European sea bass. AR was cloned from a sea bass testis cDNA library and encoded a predicted protein of 767 residues, with a calculated molecular weight of 86.4 kDa and a theoretical pI of 6.34. Several domains present in all cloned ARs were identified. The domains corresponded to an amino-terminal hypervariable transcriptional activation domain (TAD), a central highly conserved DNA-binding domain (DBD), and a carboxy-terminal ligand-binding domain (LBD). Percentages of homology-similarity among these functional domains in teleost fish ranged between 9 and 75% for the TAD, 73 and 98% for the DBD, and 78 and 96% for the LBD when compared to those of the sea bass. Tissue-specific expression showed that AR was preferentially expressed in testis, ovaries, and brain. Some other tissues such as the head kidney, liver and spleen also showed AR expression although at very low levels. A semiquantitative PCR was developed to study the expression of AR mRNA during the period of development encompassed between 50 and 300 DPH in sea bass gonads. An experimental design, involving repeated size gradings, based on the fact that sea bass females are larger than males already at sex differentiation, was set to obtain a group consisting of the largest fish (female-dominant) and a group consisting of the smallest fish (male-dominant). The results showed very low mRNA expression levels of AR in the gonads during early development. Differences in AR expression between groups were first encountered at 150 DPH and became especially marked at 250 DPH with much higher levels in the male-dominant group. These sex-related differences in expression profiles between males and females by the time of sex differentiation, suggest an important role for AR controlling this process in the sea bass. PMID:15878229

Blázquez, Mercedes; Piferrer, Francesc

2005-06-15

346

Anatomical Abnormalities in Autism?  

PubMed

Substantial controversy exists regarding the presence and significance of anatomical abnormalities in autism spectrum disorders (ASD). The release of the Autism Brain Imaging Data Exchange (?1000 participants, age 6-65 years) offers an unprecedented opportunity to conduct large-scale comparisons of anatomical MRI scans across groups and to resolve many of the outstanding questions. Comprehensive univariate analyses using volumetric, thickness, and surface area measures of over 180 anatomically defined brain areas, revealed significantly larger ventricular volumes, smaller corpus callosum volume (central segment only), and several cortical areas with increased thickness in the ASD group. Previously reported anatomical abnormalities in ASD including larger intracranial volumes, smaller cerebellar volumes, and larger amygdala volumes were not substantiated by the current study. In addition, multivariate classification analyses yielded modest decoding accuracies of individuals' group identity (<60%), suggesting that the examined anatomical measures are of limited diagnostic utility for ASD. While anatomical abnormalities may be present in distinct subgroups of ASD individuals, the current findings show that many previously reported anatomical measures are likely to be of low clinical and scientific significance for understanding ASD neuropathology as a whole in individuals 6-35 years old. PMID:25316335

Haar, Shlomi; Berman, Sigal; Behrmann, Marlene; Dinstein, Ilan

2014-10-14

347

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

348

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

PubMed

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

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

2013-09-01

349

Coexistence of genotypic and temperature-dependent sex determination in pejerrey Odontesthes bonariensis.  

PubMed

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

Yamamoto, Yoji; Zhang, Yan; Sarida, Munti; Hattori, Ricardo S; Strüssmann, Carlos A

2014-01-01

350

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

PubMed Central

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

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

2014-01-01

351

Exercises to Improve Gait Abnormalities  

MedlinePLUS

... Home About Goals Articles Directories Videos Resources Contact Exercises to Improve Gait Abnormalities Home » Article Categories » Exercise and Fitness Font Size: A A A A Exercises to Improve Gait Abnormalities Next Page The manner ...

352

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

353

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

354

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

355

Prenatal screening for chromosome abnormalities  

Microsoft Academic Search

An abnormal chromosome complement (aneuploidy) contributes significantly to fetal loss during pregnancy, as well as to perinatal morbidity and mortality. The contribution of chromosomal abnormalities to fetal loss decreases as pregnancy continues with an estimated 50% of first trimester spontaneous abortions due to chromosomal abnormalities, but only 5% of stillbirths (after 28 weeks). Prenatal screening for aneuploidy (in particular Down

Lyn Chitty

356

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development  

Microsoft Academic Search

Disorders of sexual development (DSD), ranging in severity from genital abnormalities to complete sex reversal, are among the most common human birth defects with incidence rates reaching almost 3%. Although causative alterations in key genes controlling gonad development have been identified, the majority of DSD cases remain unexplained. To improve the diagnosis, we screened 116 children born with idiopathic DSD

Mounia Tannour-Louet; Shuo Han; Sean T. Corbett; Jean-Francois Louet; Svetlana Yatsenko; Lindsay Meyers; Chad A. Shaw; Sung-Hae L. Kang; Sau Wai Cheung; Dolores J. Lamb; Syed A. Aziz

2010-01-01

357

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

PubMed

Disorders of sex development (DSD), previously known as intersex, refer to congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Patients with specific variants of this disorder have an elevated risk for the development of so-called type II germ cell cancers, i.e., the seminomatous and nonseminatous tumors, referred to as germ cell tumors (GCTs). Specifically DSD patients with gonadal dysgenesis or hypovirilization are at risk. A prerequisite for type II GCT formation is the presence of a specific part of the Y chromosome (referred to as the GBY region), with the TSPY gene being the most likely candidate. Also the octamer binding transcription factor OCT3/4 is consistently expressed in all type II GCTs with pluripotent potential, as well as in the precursor lesions carcinoma in situ (CIS) in case of a testis and gonadoblastoma (GB) in the DSD gonad. The actual risk for malignant transformation in individual DSD patients is hard to predict, because of confusing terminology referring to the different forms of DSD, and unclear criteria for identification of the presence of malignant germ cells, especially in young patients. This is specifically due to the phenomenon of delay of germ cell maturation, which might result in over diagnosis. This review will give novel insight into the pathogenesis of the type II GCTs through the study of patients with various forms of DSD for which the underlying molecular defect is known. To allow optimal understanding of the pathogenesis of this type of cancers, first normal gonadal development, especially regarding the germ cell lineage, will be discussed, after which type II GCTs will be introduced. Subsequently, the relationship between type II GCTs and DSD will be described, resulting in a number of new insights into the development of the precursor lesions of these tumors. PMID:18403106

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

2008-09-10

358

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

359

Sex and Arthritis  

MedlinePLUS

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

360

The molecular genetics of sex determination and sex reversal in mammals.  

PubMed

The process of sex determination in mammals normally unfolds in three distinct stages: (1) establishment of chromosomal sex at fertilization (XX or XY); (2) commitment to the appropriate pathway of gonadal differentiation with respect to chromosomal sex, through the action (or absence) of the Y chromosome gene SRY; and (3) correct development of secondary sexual characteristics, including internal and external genitalia, in accordance with gonadal sex. At any of these three steps, the process of sex determination can go awry, leading to disorders of sexual development. In this article, we review the typical mechanism and process of mammalian sex determination, with an emphasis on the well-characterized mouse and human models. We also consider aberrant mammalian sex determination, focusing on examples of sex reversal stemming from gene defects. PMID:23044871

Quinn, Alexander; Koopman, Peter

2012-10-01

361

An animal model with relevance to schizophrenia: sex-dependent cognitive deficits in osteogenic disorder-Shionogi rats induced by glutathione synthesis and dopamine uptake inhibition during development.  

PubMed

Low glutathione levels have been observed in the prefrontal cortex and the cerebrospinal fluid of schizophrenic patients, possibly enhancing the cerebral susceptibility to oxidative stress. We used osteogenic disorder Shionogi mutant rats, which constitute an adequate model of the human redox regulation because both are unable to synthesize ascorbic acid. To study the long-term consequences of a glutathione deficit, we treated developing rats with L-buthionine-(S,R)-sulfoximine (BSO), an inhibitor of glutathione synthesis, and later investigated their behavior until adulthood. Moreover, some rats were treated with the dopamine uptake inhibitor GBR 12909 in order to elevate dopamine extracellular levels, thereby mimicking the dopamine hyperactivity proposed to be involved in schizophrenia. BSO and GBR 12909 alone or in combination minimally affected the development of spontaneous alternation or basic sensory and motor skills. A major effect of BSO alone or in combination with GBR 12909 was the induction of cataracts in both sexes, whereas GBR 12909 induced an elevation of body weight in females only. Sex and age-dependent effects of the treatments were observed in a test of object recognition. At postnatal day 65, whereas male rats treated with both BSO and GBR 12909 failed to discriminate between familiar and novel objects, females were not affected. At postnatal day 94, male object recognition capacity was diminished by BSO and GBR 12909 alone or in combination, whereas females were only affected by the combination of both drugs. Inhibition of brain glutathione synthesis and dopamine uptake in developing rats induce long-term cognitive deficits occurring in adulthood. Males are affected earlier and more intensively than females, at least concerning object recognition. The present study suggests that the low glutathione levels observed in schizophrenic patients may participate in the development of some of their cognitive deficits. PMID:14751276

Castagné, V; Cuénod, M; Do, K Q

2004-01-01

362

Effect of chronic sublethal exposure of major heavy metals on filtration rate, sex ratio, and gonad development of a bivalve species.  

PubMed

The chronic toxic effects of major heavy metals including copper (Cu), zinc (Zn), lead (Pb), and cadmium (Cd) on the filtration rate (FR), sex ratio, and gonad development of immature blood clams, Tegillarca granosa, were investigated. The FRs were significantly inhibited by Cu, Pb and Cd, with rates generally decreasing with both increasing metal concentrations and exposure time. EC50 values for FR after 28 days of exposure were 12.9, 12.7 and 14.4 ?g/L for Cu, Pb and Cd, respectively. Zn exposure had no effect on FR. Sex ratios were significantly altered from controls in favor of an increased proportion of males at metal concentrations of ? 14.2, ? 86 and ? 110 ?g/L for Cu, Pb and Cd, respectively; and at ? 1.68 mg/L for Zn. The gonado-somatic index was significantly reduced in clams at all metal exposures, except for the lowest concentration of Cu (7.1 ?g/L). PMID:24162647

Liu, G X; Shu, M A; Chai, X L; Shao, Y Q; Wu, H X; Sun, C S; Yang, S B

2014-01-01

363

Assessing Sex Typing and Androgyny in Children: The Children's Sex Role Inventory  

Microsoft Academic Search

A measure of sex typing and androgyny in children was developed based on the Bem Sex Role Inventory (BSRI; Bem, 1974). The Children's Sex Role Inventory (CSRI) was correlated with the BSRI in an adult sample to establish the equivalence of the two inventories for use in developmental research spanning middle childhood and adulthood. Ss were 145 third, fourth, sixth,

Janet P. Boldizar

1991-01-01

364

Cardiac abnormalities in liver cirrhosis.  

PubMed Central

Cirrhosis is associated with several circulatory abnormalities. A hyperkinetic circulation characterized by increased cardiac output and decreased arterial pressure and peripheral resistance is typical. Despite this hyperkinetic circulation, some patients with alcoholic cirrhosis have subclinical cardiomyopathy with evidence of abnormal ventricular function unmasked by physiologic or pharmacologic stress. Florid congestive alcoholic cardiomyopathy develops in a small percentage, but the concurrent presence of cirrhosis seems to retard the occurrence of overt heart failure. Even nonalcoholic cirrhosis may be associated with latent cardiomyopathy, although overt heart failure is not observed. Tense ascites is associated with some cardiac compromise, and removing or mobilizing ascitic fluid by paracentesis or peritoneovenous shunting results in short-term increases in cardiac output. Cirrhosis also appears to be associated with a decreased risk of major coronary atherosclerosis and an increased risk of bacterial endocarditis. Small hemodynamically insignificant pericardial effusions may be seen in ascitic patients. The release of atrial natriuretic peptide appears to be unimpaired in cirrhosis, although the kidney may be hyporesponsive to its natriuretic effects. PMID:2690463

Lee, S S

1989-01-01

365

Genetic mapping of sex determination in a wild strawberry, Fragaria virginiana, reveals earliest form of sex chromosome  

Microsoft Academic Search

The evolution of separate sexes (dioecy) from hermaphroditism is one of the major evolutionary transitions in plants, and this transition can be accompanied by the development of sex chromosomes. Studies in species with intermediate sexual systems are providing unprecedented insight into the initial stages of sex chromosome evolution. Here, we describe the genetic mechanism of sex determination in the octoploid,

R B Spigler; K S Lewers; D S Main; T-L Ashman

2008-01-01

366

The sex and sex determination in Pyropia haitanensis (Bangiales, Rhodophyta).  

PubMed

Pyropia haitanensis has a biphasic life cycle with macroscopic gametophytic blade (n) and microscopic filamentous conchocelis (2n) phase. Its gametophytic blades have long been believed to be mainly dioecious. However, when crossing the red mutant (R, ?) with the wild type (W, ?), the parental colors were segregated in F1 blades, of which 96.1% were linearly sectored with 2-4 color sectors. When color sectors were excised from the color-sectored blades and cultured singly, 99.7% of the color sectors appeared to be unisexual with an equal sex ratio. Although the sex of color sector did not genetically link with its color, the boundaries of both sex and color sectors coincided precisely. About 87.9% of the examined color-sectored blades were monoecious and the percentage increased with the number of color sectors of a blade. The gametophytic blades from each conchocelis strain produced by parthenogenesis of the excised color sectors were unisexual and unicolor, showing the same sex and color as their original sectors. These results indicate that most of the sexually reproduced Py. haitanensis blades are monoecious, and their sex is controlled by segregation of a pair of alleles during meiosis of conchospore, forming a sex-sectored tetrad. During the subsequent development of blades, one or two lower cell(s) of the tetrad contribute mainly to rhizoid formation, and rarely show their sexual phenotype, leading to reduced frequency of full sex phenotype of the meiotic blades. Moreover, the aberrant segregations of sex genes or color genes in a few of F1 blades were probably due to gene conversions, but there was no sex transfer in Py. haitanensis. PMID:23991194

Zhang, Yuan; Yan, Xing-hong; Aruga, Yusho

2013-01-01

367

Genomics of Sex and Sex Chromosomes  

Technology Transfer Automated Retrieval System (TEKTRAN)

Sex chromosomes are distinctive, not only because of their gender determining role, but also for genomic features that reflect their evolutionary history. The genomic sequences in the ancient sex chromosomes of humans and in the incipient sex chromosomes of medaka, stickleback, and papaya exhibit u...

368

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.  

PubMed

The NR5A1 gene encodes for steroidogenic factor 1, a nuclear receptor that regulates proper adrenal and gonadal development and function. Mutations identified by NR5A1 sequencing have been associated with disorders of sex development (DSD), ranging from sex reversal to severe hypospadias in 46,XY patients and premature ovarian failure (POF) in 46,XX patients. Previous reports have identified four families with a history of both 46,XY DSD and 46,XX POF carrying segregating NR5A1 sequence mutations. Recently, three 46,XY DSD sporadic cases with NR5A1 microdeletions have been reported. Here, we identify the first NR5A1 microdeletion transmitted in a pedigree with both 46,XY DSD and 46,XX POF. A 46,XY individual with DSD due to gonadal dysgenesis was born to a young mother who developed POF. Array CGH analysis revealed a maternally inherited 0.23?Mb microdeletion of chromosome 9q33.3, including the NR5A1 gene. Based on this finding, we screened patients with unexplained 46,XY DSD (n?=?11), proximal hypospadias (n?=?21) and 46,XX POF (n?=?36) for possible NR5A1 copy-number variations (CNVs) via multiplex ligation-dependent probe amplification (MLPA), but did not identify any additional CNVs involving NR5A1. These data suggest that NR5A1 CNVs are an infrequent cause of these disorders but that array CGH and MLPA are useful genomic screening tools to uncover the genetic basis of such unexplained cases. This case is the first report of a familial NR5A1 CNV transmitting in a pedigree, causing both the male and female phenotypes associated with NR5A1 mutations, and the first report of a NR5A1 CNV associated with POF. PMID:23918653

Harrison, Steven M; Campbell, Ian M; Keays, Melise; Granberg, Candace F; Villanueva, Carlos; Tannin, Grace; Zinn, Andrew R; Castrillon, Diego H; Shaw, Chad A; Stankiewicz, Pawel; Baker, Linda A

2013-10-01

369

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

370

Screening and Familial Characterization of Copy-Number Variations in NR5A1 in 46,XY Disorders of Sex Development and Premature Ovarian Failure  

PubMed Central

The NR5A1 gene encodes for steroidogenic factor 1, a nuclear receptor that regulates proper adrenal and gonadal development and function. Mutations identified by NR5A1 sequencing have been associated with disorders of sex development (DSD), ranging from sex reversal to severe hypospadias in 46,XY patients and premature ovarian failure (POF) in 46,XX patients. Previous reports have identified four families with a history of both 46,XY DSD and 46,XX POF carrying segregating NR5A1 sequence mutations. Recently, three 46,XY DSD sporadic cases with NR5A1 microdeletions have been reported. Here, we identify the first NR5A1 microdeletion transmitted in a pedigree with both 46,XY DSD and 46,XX POF. A 46,XY individual with DSD due to gonadal dysgenesis was born to a young mother who developed POF. Array CGH analysis revealed a maternally inherited 0.23 Mb microdeletion of chromosome 9q33.3, including the NR5A1 gene. Based on this finding, we screened patients with unexplained 46,XY DSD (n=11), proximal hypospadias (n=21) and 46,XX POF (n=36) for possible NR5A1 copy-number variations (CNVs) via multiplex ligation-dependent probe amplification (MLPA), but did not identify any additional CNVs involving NR5A1. These data suggest that NR5A1 CNVs are an infrequent cause of these disorders but that array CGH and MLPA are useful genomic screening tools to uncover the genetic basis of such unexplained cases. This case is the first report of a familial NR5A1 CNV transmitting in a pedigree, causing both the male and female phenotypes associated with NR5A1 mutations, and the first report of a NR5A1 CNV associated with POF. PMID:23918653

Harrison, Steven M.; Campbell, Ian M.; Keays, Melise; Granberg, Candace F.; Villanueva, Carlos; Tannin, Grace; Zinn, Andrew R.; Castrillon, Diego H.; Shaw, Chad A.; Stankiewicz, Pawe?; Baker, Linda A.

2013-01-01

371

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

372

A Rare Stapes Abnormality  

PubMed Central

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

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

2015-01-01

373

A rare stapes abnormality.  

PubMed

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

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

2015-01-01

374

Significance of abnormal serum binding of insulin-like growth factor II in the development of hypoglycemia in patients with non-islet-cell tumors.  

PubMed Central

We reported that serum and tumor from a hypoglycemic patient with a fibrosarcoma contained insulin-like growth factor II (IGF-II), mostly in a large molecular form designated "big IGF-II." We now describe two additional patients with non-islet-cell tumor with hypoglycemia (NICTH) whose sera contained big IGF-II. Removal of the tumor eliminated most of the big IGF-II from the sera of two patients. Because specific IGF-binding proteins modify the bioactivity of IGFs, the sizes of the endogenous IGF-binding protein complexes were determined after neutral gel filtration through Saphadex G-200. Normally about 75% of IGFs are carried as a ternary complex of 150 kDa consisting of IGF, a growth hormone (GH)-dependent IGF-binding protein, and an acid-labile complexing component. The three patients with NICTH completely lacked the 150-kDa complex. IGF-II was present as a 60-kDa complex with variable contributions of smaller complexes. In the immediate postoperative period, a 110-kDa complex appeared rather than the expected 150-kDa complex. Abnormal IGF-II binding may be important in NICTH because the 150-kDa complexes cross the capillary membrane poorly. The smaller complexes present in our patients' sera would be expected to enter interstitial fluid readily, and a 4- to 5-fold increase in the fraction of IGFs reaching the target cells would result. PMID:2771956

Daughaday, W H; Kapadia, M

1989-01-01

375

Short-term treatment of adult male zebrafish (Danio Rerio) with 17?-ethinyl estradiol affects the transcription of genes involved in development and male sex differentiation.  

PubMed

The synthetic estrogen 17?-ethinyl estradiol (EE2) disturbs reproduction and causes gonadal malformation in fish. Effects on the transcription of genes involved in gonad development and function that could serve as sensitive biomarkers of reproductive effects in the field is, however, not well known. We have studied mRNA expression in testes and liver of adult zebrafish (Danio rerio) males treated with 0, 5 or 25 ng/L EE2for 14 days. qPCR analysis showed that the mRNA expression of four genes linked to zebrafish male sex determination and differentiation, Anti-Mullerian Hormone, Double sex and mab-related protein, Sry-related HMG box-9a and Nuclear receptor subfamily 5 group number 1b were significantly decreased by 25 ng/L, but not 5 ng/L EE2 compared with the levels in untreated fish. The decreased transcription was correlated with a previously shown spawning failure in these males (Reyhanian et al., 2011. Aquat Toxicol 105, 41-48), suggesting that decreased mRNA expression of genes regulating male sexual function could be involved in the functional sterility. The mRNA level of Cytochrome P-45019a, involved in female reproductive development, was unaffected by hormone treatment. The transcription of the female-specific Vitellogenin was significantly induced in testes. While testicular Androgen Receptor and the Estrogen Receptor-alpha mRNA levels were unchanged, Estrogen receptor-beta was significantly decreased by 25 ng/L EE2. Hepatic Estrogen Receptor-alpha mRNA was significantly increased by both exposure concentrations, while Estrogen Receptor-beta transcription was unaltered. The decreased transcription of male-predominant genes supports a demasculinization of testes by EE2 and might reflect reproductive disturbances in the environment. PMID:24747828

Reyhanian Caspillo, Nasim; Volkova, Kristina; Hallgren, Stefan; Olsson, Per-Erik; Porsch-Hällström, Inger

2014-08-01

376

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

377

Transgenic expression of Map3k4 rescues T-associated sex reversal (Tas) in mice.  

PubMed

Disorders of sex development in the human population range in severity from mild genital defects to gonadal sex reversal. XY female development has been associated with heterozygous mutations in several genes, including SOX9, WT1 and MAP3K1. In contrast, XY sex reversal in mice usually requires complete absence of testis-determining gene products. One exception to this involves T-associated sex reversal (Tas), a phenomenon characterized by the formation of ovotestes or ovaries in XY mice hemizygous for the hairpin-tail (T(hp)) or T-Orleans (T(Orl)) deletions on proximal mouse chromosome 17. We recently reported that mice heterozygous for a null allele of Map3k4, which resides in the T(hp) deletion, exhibit XY ovotestis development and occasional gonadal sex reversal on the sensitized C57BL/6J-Y(AKR) (B6-Y(AKR)) genetic background, reminiscent of the Tas phenotype. However, these experiments did not exclude the possibility that loss of other loci in the T(hp) deletion, or other effects of the deletion itself, might contribute to Tas. Here, we show that disruption to Sry expression underlies XY gonadal defects in B6-Y(AKR) embryos harbouring the T(hp) deletion and that a functional Map3k4 bacterial artificial chromosome rescues these abnormalities by re-establishing a normal Sry expression profile. These data demonstrate that Map3k4 haploinsufficiency is the cause of T-associated sex reversal and that levels of this signalling molecule are a major determinant of the expression profile of Sry. PMID:24452333

Warr, Nick; Siggers, Pam; Carré, Gwenn-Aël; Bogani, Debora; Brixey, Rachel; Akiyoshi, Mika; Tachibana, Makoto; Teboul, Lydia; Wells, Sara; Sanderson, Jeremy; Greenfield, Andy

2014-06-01

378

A Study of the Psychosexual Characteristics of Sex Killers: Can we Identify them Before it is Too Late?  

Microsoft Academic Search

Thirty-three sex killers were compared to 80 sexual aggressives, 23 sadists, and 611 general sex offenders on sexual history and preferences, substance abuse crime, violence, mental illness, personality, neurological and endocrine abnormalities. Compared to other groups, sex killers started their criminal careers earlier, more often had been to reform school, were members of criminal gangs, set fires, and were cruel

Ron Langevin

2003-01-01

379

Identifying abnormalities in symbiotic development between Trifolium spp. and Rhizobium leguminosarum bv. trifolii leading to sub-optimal and ineffective nodule phenotypes  

PubMed Central

Background and Aims Legumes overcome nitrogen limitations by entering into a mutualistic symbiosis with N2-fixing bacteria (rhizobia). Fully compatible associations (effective) between Trifolium spp. and Rhizobium leguminosarum bv. trifolii result from successful recognition of symbiotic partners in the rhizosphere, root hair infection and the formation of nodules where N2-fixing bacteroids reside. Poorly compatible associations can result in root nodule formation with minimal (sub-optimal) or no (ineffective) N2-fixation. Despite the abundance and persistence of strains in agricultural soils which are poorly compatible with the commercially grown clover species, little is known of how and why they fail symbiotically. The aims of this research were to determine the morphological aberrations occurring in sub-optimal and ineffective clover nodules and to determine whether reduced bacteroid numbers or reduced N2-fixing activity is the main cause for the Sub-optimal phenotype. Methods Symbiotic effectiveness of four Trifolium hosts with each of four R. leguminosarum bv. trifolii strains was assessed by analysis of plant yields and nitrogen content; nodule yields, abundance, morphology and internal structure; and bacteroid cytology, quantity and activity. Key Results Effective nodules (Nodule Function 83–100 %) contained four developmental zones and N2-fixing bacteroids. In contrast, Sub-optimal nodules of the same age (Nodule Function 24–57 %) carried prematurely senescing bacteroids and a small bacteroid pool resulting in reduced shoot N. Ineffective-differentiated nodules carried bacteroids aborted at stage 2 or 3 in differentiation. In contrast, bacteroids were not observed in Ineffective-vegetative nodules despite the presence of bacteria within infection threads. Conclusions Three major responses to N2-fixation incompatibility between Trifolium spp. and R. l. trifolii strains were found: failed bacterial endocytosis from infection threads into plant cortical cells, bacteroid differentiation aborted prematurely, and a reduced pool of functional bacteroids which underwent premature senescence. We discuss possible underlying genetic causes of these developmental abnormalities and consider impacts on N2-fixation of clovers. PMID:22989463

Melino, V. J.; Drew, E. A.; Ballard, R. A.; Reeve, W. G.; Thomson, G.; White, R. G.; O'Hara, G. W.

2012-01-01

380

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

381

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

382

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

383

On the origin of sex chromosomes from meiotic drive.  

PubMed

Most animals and many plants make use of specialized chromosomes (sex chromosomes) to determine an individual's sex. Best known are the XY and ZW sex-determination systems. Despite having evolved numerous times, sex chromosomes present something of an evolutionary puzzle. At their origin, alleles that dictate development as one sex or the other (primitive sex chromosomes) face a selective penalty, as they will be found more often in the more abundant sex. How is it possible that primitive sex chromosomes overcome this disadvantage? Any theory for the origin of sex chromosomes must identify the benefit that outweighs this cost and enables a sex-determining mutation to establish in the population. Here we show that a new sex-determining allele succeeds when linked to a sex-specific meiotic driver. The new sex-determining allele benefits from confining the driving allele to the sex in which it gains the benefit of drive. Our model requires few special assumptions and is sufficiently general to apply to the evolution of sex chromosomes in outbreeding cosexual or dioecious species. We highlight predictions of the model that can discriminate between this and previous theories of sex-chromosome origins. PMID:25392470

Úbeda, Francisco; Patten, Manus M; Wild, Geoff

2015-01-01

384

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

385

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

386

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

387

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.  

PubMed

The detection of chromosomal abnormalities in patients with mental retardation (MR) and dysmorphic features increases with improvements of molecular cytogenetic methods. We report on six patients referred for detailed characterization of chromosomal abnormalities (four translocations, one inversion, one deletion) detected by conventional cytogenetics, in whom metaphase CGH revealed imbalances not involved in the initially detected rearrangements. The detected abnormalities were validated by real-time PCR. Parents were investigated by CGH in four cases. The genomic screening revealed interstitial deletions of 2q33.2-q34, 3p21, 4q12-q13.1, 6q25, 13q22.2-q31.1, and 14q12. The estimated minimum sizes of the deletions ranged from 2.65 to 9.27 Mb. The CGH assay did not reveal imbalances that colocalized with the breakpoints of the inversion or the translocations. The deletion of 6q included ESR1, in which polymorphisms are associated with variation of adult height. FOXG1B, known to be involved in cortical development, was located in the 14q deletion. The results illustrate that whole-genome molecular cytogenetic analysis of phenotypically affected patients with abnormal conventional karyotypes may detect inapparent molecular cytogenetic abnormalities in patients with microscopic chromosomal abnormalities and that these data provide additional information of clinical importance. PMID:16955412

Bisgaard, Anne-Marie; Kirchhoff, Maria; Tümer, Zeynep; Jepsen, Birgit; Brøndum-Nielsen, Karen; Cohen, Monika; Hamborg-Petersen, Bente; Bryndorf, Thue; Tommerup, Niels; Skovby, Flemming

2006-10-15

388

Podiatric medical abnormalities in a random population sample 40 years or older in Spain.  

PubMed

Background : Podiatric medical abnormalities are highly prevalent, yet few random population studies exist that determine the presence of pathologic abnormalities in the feet, despite their importance. The aim of this study was to determine the prevalence of podiatric medical abnormalities in a random sample population 40 years or older. Methods : An observational study was conducted of a random sample population (n = 1,002) located in A Coruña, Spain. Anthropometric variables, comorbidity (Charlson score), quality of life (36-item Short-Form Health Survey), and podiatric medical examination findings were studied. A descriptive analysis and multivariate logistic regression were performed. Results : The most common diseases were claw toes (69.7%), hallux valgus (38%), and hallux extensus (15.8%), which increased with age and female sex. The most frequent metatarsal formula was index minus (40.9%), followed by index plus minus (35.0%). The most frequent digital formula was Egyptian foot (57.1%), followed by Greek foot (31.4%). In this study, although the presence of podiatric medical abnormalities reduced the probability of enjoying a better quality of life, it did not do so significantly. After taking into account age, sex, comorbidity, body mass index (BMI), and the presence of podiatric medical abnormalities, the variables with an independent effect that modified the physical component of quality of life were sex (female), comorbidity, and BMI. Conclusions : There was a high prevalence of podiatric medical abnormalities, which increased with age and female sex. Comorbidity, BMI, and sex modified quality of life independently of podiatric medical abnormalities. PMID:25514268

Pita-Fernandez, Salvador; González-Martín, Cristina; Seoane-Pillado, Teresa; Pertega-Diaz, Sonia; Perez-Garcia, Sergio; López-Calviño, Beatriz

2014-11-01

389

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

390

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

391

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

392

Abnormal pressure in hydrocarbon environments  

USGS Publications Warehouse

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

Law, B.E.; Spencer, C.W.

1998-01-01

393

Zebrafish sex determination and differentiation: Involvement of FTZ-F1 genes  

Microsoft Academic Search

Sex determination is the process deciding the sex of a developing embryo. This is usually determined genetically; however it is a delicate process, which in many cases can be influenced by environmental factors. The mechanisms controlling zebrafish sex determination and differentiation are not known. To date no sex linked genes have been identified in zebrafish and no sex chromosomes have

Jonas von Hofsten; Per-Erik Olsson

2005-01-01

394

SRY-positive 78, XY ovotesticular disorder of sex development in a wolf cloned by nuclear transfer  

PubMed Central

Recently, we reported the three wolves cloning with normal karyotype from somatic cells of endangered male gray wolves (Canis lupus), but one wolf had female external genitalia. In this study, we conducted further clinical, histological, and genetic analyses. This cloned wolf had a normal uterus but developed ovotestis. Through molecular analysis of the SRY gene, a mutation in the coding sequence of SRY gene could be excluded as a cause of intersexuality. This is the first report of a cloned wolf with a 78, XY ovotesticular disorder affecting sexual development characterized by bilateral ovotestes. PMID:22705746

Kang, Jung Taek; Kim, Hyung Jin; Oh, Hyun Ju; Hong, So Gun; Park, Jung Eun; Kim, Min Jung; Kim, Min Kyu; Jang, Goo; Kim, Dae Yong

2012-01-01

395

Brain aromatase (cyp19a1b) and gonadotropin releasing hormone (gnrh2 and gnrh3) expression during reproductive development and sex change in black sea bass (Centropristis striata).  

PubMed

Teleost fish exhibit diverse reproductive strategies, and some species are capable of changing sex. The influence of many endocrine factors, such as gonadal steroids and neuropeptides, has been studied in relation to sex change, but comparatively less research has focused on gene expression changes within the brain in temperate grouper species with non-haremic social structures. The purpose of the present study was to investigate gonadotropin releasing hormone (GnRH) and brain aromatase (cyp19a1b) gene expression patterns during reproductive development and sex change in protogynous (female to male) black sea bass (Centropristis striata). Partial cDNA fragments for cyp19a1b and eef1a (a reference gene) were identified, and included with known gnrh2 and gnrh3 sequences in real time quantitative PCR. Elevated cyp19a1b expression was evident in the olfactory bulbs, telencephalon, optic tectum, and hypothalamus/midbrain region during vitellogenic growth, which may indicate changes in the brain related to neurogenesis or sexual behavior. In contrast, gnrh2 and gnrh3 expression levels were largely similar among gonadal states, and all three genes exhibited stable expression during sex change. Although sex change in black sea bass is not associated with dramatic changes in GnRH or cyp19a1b gene expression among brain regions, these genes may mediate processes at other levels, such as within individual hypothalamic nuclei, or through changes in neuron size, that warrant further research. PMID:25475593

Breton, Timothy S; DiMaggio, Matthew A; Sower, Stacia A; Berlinsky, David L

2015-03-01

396

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

397

Targets of the Sex Inducer homeodomain proteins are required for fungal development and virulence in Cryptococcus neoformans.  

PubMed

In the yeast Saccharomyces cerevisiae, the regulation of cell types by homeodomain transcription factors is a key paradigm; however, many questions remain regarding this class of developmental regulators in other fungi. In the human fungal pathogen Cryptococcus neoformans, the homeodomain transcription factors Sxi1? and Sxi2a are required for sexual development that produces infectious spores, but the molecular mechanisms by which they drive this process are unknown. To better understand homeodomain control of fungal development, we determined the targets of the Sxi2a-Sxi1? heterodimer using whole genome expression analyses paired with in silico and in vitro binding site identification methods. We identified Sxi-regulated genes that contained a site bound directly by the Sxi proteins that is required for full regulation in vivo. Among the targets of the Sxi2a-Sxi1? complex were many genes known to be involved in sexual reproduction, as well as several well-studied virulence genes. Our findings suggest that genes involved in sexual development are also important in mammalian disease. Our work advances the understanding of how homeodomain transcription factors control complex developmental events and suggests an intimate link between fungal development and virulence. PMID:25476490

Mead, Matthew E; Stanton, Brynne C; Kruzel, Emilia K; Hull, Christina M

2014-12-01

398

Ethnicity, Sex Distribution and Professorial Rank of Education Personnel Development Faculty in AACTE Member Institutions. Minfo Minireport III.  

ERIC Educational Resources Information Center

A study of the ethnic identity of Education Personnel Development (EDP) faculty in American Association of Colleges for Teacher Education member institutions represents 14,493 faculty in 320 participating institutions. Data are presented in tabular form. Table 1 provides analysis in terms of institution type; Table 2 in terms of faculty degree…

Yff, Joost; Kaplan, Robert E.

399

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

400

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

401

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

PubMed

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-alpha and PdgfR-beta 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-alpha mRNA: expression of these genes did not differ in embryos, but diverged in hatchling testes and ovaries. Levels of PdgfR-beta 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-alpha and PdgfR-beta 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

2009-05-01

402

Sex-Offender Tracking  

MedlinePLUS

... Safety & Prevention Law Enforcement Training Victim & Family Support Sex Offender Tracking The primary goal of the National Center for Missing & Exploited Children ® ’s Sex Offender Tracking Team ® (SOTT) is to provide assistance ...

403

Sex-linked recessive  

MedlinePLUS

Inheritance - sex-linked recessive; Genetics - sex-linked recessive; X-linked recessive ... X-linked recessive diseases usually occur in males. Males have only one X chromosome. A single recessive ...

404

Gonadal sex differentiation in embryos and neonates of the marsupial, Monodelphis domestica: arrest of testis development in postterm embryos.  

PubMed

Growth and histological differentiation were studied in 8 litters of embryos and 4 litters of neonate grey short-tailed opossums, Monodelphis domestica. The embryonic litters included 2 that had passed their expected birth date, and whose weights exceeded the usual birthweights; we refer to these litters as 'postmature'. There was an abrupt increase in the growth rate of XY gonads after birth, but this was not seen in XX gonads. Although there was evidence of testicular differentiation in XY gonads on the day before the expected birth, testicular differentiation was found to be blocked in postmature litters. The growth of XX gonads in postmature embryos was not affected. In view of evidence that exogenous oestrogens feminise the gonads of genetic males in some species of marsupials including Monodelphis domestica, the question arises whether oestrogen is responsible for the failure of testes to continue their development in utero. We suggest that the ability of functional testes to develop in the presence of oestrogen may be a fundamental requirement distinguishing eutherian mammals from other vertebrates, including marsupials. PMID:8376201

Baker, P J; Moore, H D; Burgess, A M; Mittwoch, U

1993-04-01

405

Sex Differences in Reading: A Biological Explanation.  

ERIC Educational Resources Information Center

Although sex differences in reading and related language functions have frequently been reported for both average and retarded readers, the explanations thus far proposed (maturation rate, sex-role development, textbook content, "female bias," and psycho-social factors) do not satisfactorily account for these differences. One hypothesis that might…

Aliotti, Nicholas C.

406

Single-Sex Classes. Research Brief  

ERIC Educational Resources Information Center

The research that has been conducted on single-sex schools and classes, has for the most part, been done in the private school and college realm, primarily because very few public schools established single-sex programs. One of the consistent findings has been that with so much emphasis having been placed on the development of girls, that boys are…

Walker, Karen

2004-01-01

407

Accelerated bone formation and increased osteoblast number contribute to the abnormal tooth germ development in parathyroid hormone-related protein knockout mice  

Microsoft Academic Search

Our previous study showed that tooth germs at late embryonic stage [later than embryonic day 17.5 (E17.5)] and neonatal homozygous parathyroid hormone-related protein (PTHrP)-knockout mice are compressed or penetrated by the surrounding alveolar bone tissue. In vivo and in vitro studies have shown that the development of the tooth germ proper is not disturbed, but insufficient alveolar bone resorption, due

Y. Kitahara; N. Suda; T. Terashima; O. Baba; K. Mekaapiruk; V. E. Hammond; Y. Takano; K. Ohyama

2004-01-01

408

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

409

Systemic Abnormalities in Children with Congenital Optic Disc Excavations.  

PubMed

Abstract Purpose: Together with optic disc hypoplasia, excavated optic disc anomalies represent the most frequent congenital abnormality involving the optic nerve head. The purpose of the present study was to retrospectively review the results of a screening for extraocular abnormalities in children presenting with congenital optic disc excavations. Materials and methods: The medical records of 37 patients diagnosed with a unilateral or bilateral non glaucomatous optic disc excavation were retrospectively reviewed to analyze the result of the extra ocular evaluation and to report the associated ocular abnormalities. Results: An ocular abnormality was observed in conjunction with the excavated optic disc in 31% of the eyes. The systematic investigations revealed the presence of at least one extra-ocular disorder in 48% of the cases, and the optic disc excavation could be considered as syndromic in 30% of patients. The prevalence of extraocular malformations was significantly higher in infants presenting with associated ocular malformations or abnormal vision/development. Conclusions: The present study suggests that a systematic approach to search for any associated systemic abnormalities could be envisioned in patients presenting with congenital excavated optic discs, and particularly those presenting with abnormal vision, associated ocular defects or abnormal development. PMID:24911672

Beby, Francis

2014-06-01

410

[Thr arteries of the male sex organs of Japanese quail (Coturnix coturnix japonica) and their development after hatching].  

PubMed

A total of 83 male Japanese quails of the following age groups were used for this study: 11, 18, 25, 32, 35, 37, 39, 41, 43 days, and 7, 9, 17 weeks after hatching. Neoprene-Latex, Tensol-Cement, and the china ink were injected via the aortic arch. In most of male Japanese quails, the testes are supplied by the A. testicularis originated from the Aorta descendens through a common trunk with the A. renalis cranialis. But in only 3 quails had this artery originated directly from the Aorta descendens on either side. In 9 quails had the A. testicularis accessoria originating independently from the Aorta descendens and running cranially or caudally in short distance to the normal A. testicularis. The arteries for the Ductus deferens were divided into 3 categories. The Rami ureterodeferentiales craniales were spread out from A. testicularis or Rami epididymales. The Rami ureterodeferentiales medii came from the A. renalis media and the A. renalis caudalis. The Rami ureterodeferentiales caudales originated from the A. caudae lateralis and A. pudenda. The Receptaculum ductus deferentis, the Corpus vasculare paracloacalis and the Phallus nonprotrudens in the Cloaca were supplied from the thick Ramus cloacalis of the A. pudenda. The Ramus bursalis of this artery supplied the Glandula proctodaealis and the Bursa cloacalis, and was also thick. The arteries to the genital organs were observed in the 11 day old male quail. The A. pudenda began developing at about 30 days after hatching when the quail's body matured. While the A. testicularis began developing at about 40 days after hatching when the male Japanese quail was full of the spermatogenic activity. PMID:1497141

Okamoto, T; Vollmerhaus, B; Roos, H; Waibl, H; König, H E

1992-06-01

411

Sex Differences in Stroke  

Microsoft Academic Search

Increasing evidence suggests that sex differences exist in the etiology, presentation, treatment, and outcome from stroke. The reasons for these sex disparities are becoming increasingly explored, but large gaps still exist in our knowledge. Experimental studies over the past several years have demonstrated intrinsic sex differences both in vivo and in animal models which may have relevance to our understanding

L. Christine Turtzo; Louise D. McCullough

2008-01-01

412

Eroticizing Safe Sex  

Microsoft Academic Search

This paper considers several lesbian-produced safe sex tapes which engage pornographic vernacular with a dual purpose, offering both a very pointed counter to the dearth of erotic imagery depicting lesbian sex\\/sexuality specifically by and for women, but also functioning as pedagogical (self-help) tools for rethinking safe sex.

Christie Milliken

1999-01-01

413

When Sex Is Painful  

MedlinePLUS

How common is painful sex? Pain during intercourse is very common—nearly 3 out of 4 women have pain during intercourse at some time during ... a long-term problem. What causes pain during sex? Pain during sex may be a sign of ...

414

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...

415

Dysregulation of Semaphorin7A/?1-integrin signaling leads to defective GnRH-1 cell migration, abnormal gonadal development and altered fertility.  

PubMed

Reproduction in mammals is dependent on the function of specific neurons that secrete gonadotropin-releasing hormone-1 (GnRH-1). These neurons originate prenatally in the nasal placode and migrate into the forebrain along the olfactory-vomeronasal nerves. Alterations in this migratory process lead to defective GnRH-1 secretion, resulting in heterogeneous genetic disorders such as idiopathic hypogonadotropic hypogonadism (IHH), and other reproductive diseases characterized by the reduction or failure of sexual competence. Combining mouse genetics with in vitro models, we demonstrate that Semaphorin 7A (Sema7A) is essential for the development of the GnRH-1 neuronal system. Loss of Sema7A signaling alters the migration of GnRH-1 neurons, resulting in significantly reduced numbers of these neurons in the adult brain as well as in reduced gonadal size and subfertility. We also show that GnRH-1 cells differentially express the Sema7 receptors ?1-integrin and Plexin C1 as a function of their migratory stage, whereas the ligand is robustly expressed along developing olfactory/vomeronasal fibers. Disruption of Sema7A function in vitro inhibits ?1-integrin-mediated migration. Analysis of Plexin C1(-/-) mice did not reveal any difference in the migratory process of GnRH-1 neurons, indicating that Sema7A mainly signals through ?1-integrin to regulate GnRH-1 cell motility. In conclusion, we have identified Sema7A as a gene implicated in the normal development of the GnRH-1 system in mice and as a genetic marker for the elucidation of some forms of GnRH-1 deficiency in humans. PMID:21903667

Messina, Andrea; Ferraris, Nicoletta; Wray, Susan; Cagnoni, Gabriella; Donohue, Duncan E; Casoni, Filippo; Kramer, Phillip R; Derijck, Alwin A; Adolfs, Youri; Fasolo, Aldo; Pasterkamp, Ronald J; Giacobini, Paolo

2011-12-15

416

Effect of housing system, slaughter weight and slaughter strategy on carcass and meat quality, sex organ development and androstenone and skatole levels in Duroc finished entire male pigs.  

PubMed

This study aimed at evaluating the effect of housing system (HS), slaughter weight (SW) and strategy (SS) on carcass a nd meat quality, sexual organ development and boar taint in entire males. Twelve pens of 10 pigs were used (two trials). Half of male pens were allowed visual contact with females (MF) and half with males (MM). Half MM or MF were slaughtered at 105 or 130 kg in trial 1, or penwise or by split marketing in trial 2 at 120 kg. Housing system showed no significant effect on carcass or meat quality. MF presented significantly longer testicles and heavier bulbourethral glands compared to MM. The distribution of androstenone and skatole levels was affected by SW but not by HS or SS, samples with androstenone >1 ?g/g of the different groups falling within the range of 16 to 22%. All correlations between androstenone and sex organs were significant. Housing system and slaughter strategy did not reduce the risk of boar tainted carcasses. PMID:21641121

Fàbrega, E; Gispert, M; Tibau, J; Hortós, M; Oliver, M A; Furnols, M Font I

2011-12-01

417

[Neuromuscular abnormalities in critical illness].  

PubMed

The spectrum of neuromuscular disease encountered in today's intensive care units (ICU) has evolved over the last few decades. However, in spite of many studies on neuromuscular disorders complicating critical illness as well as its epidemiology, etiology, treatment and prognosis, several key areas remain unclear. Two main groups are found among these neuromuscular abnormalities. The first group includes primary neuromuscular disorders present on admission to the ICU in which a possible etiology can be identified. Guillain-Barré syndrome and myasthenia gravis are two of the most common diseases admitted to ours units. In the second group, weakness is acquired in the ICU in the absence of preexisting neuromuscular disease. It is believed to reflect illnesses or treatments occurring in the ICU. Critical illness polyneuropathy (CIP) is the most clearly defined neuromuscular complication in this group. However, although we have better knowledge of its clinical, diagnosis, and prognosis features, its pathophysiological substrate has not been fully elucidated. Neuromuscular junction defects and specially myopathies, that frequently coexist with CIP, are the others main causes of acquired weakness in critically ill patients. Advances in understanding of these neuromuscular disorders could have an important impact in terms of developing effective preventive and therapeutic interventions that could help to improve the poor prognosis of these patients. PMID:19406085

Amaya Villar, R; Garnacho-Montero, J; Rincón Ferrari, M D

2009-04-01

418

Sex, Lies and Video Games  

ERIC Educational Resources Information Center

Sex and violence in video games is a social issue that confronts us all, especially as many commercial games are now being introduced for game-based learning in schools, and as such this paper polls teenage players about the rules their parents and teachers may or may not have, and surveys the gaming community, ie, game developers to parents, to…

Kearney, Paul; Pivec, Maja

2007-01-01

419

Inbreeding and parasite sex ratios.  

PubMed Central

The breeding system of parasitic protozoa affects the evolution of drug resistance and virulence, and is relevant to disease diagnosis and the development of chemo- and immunotherapy. A major group of protozoan parasites, the phylum Apicomplexa, that includes the aetiological agents of malaria, toxoplasmosis and coccidiosis, all have dimorphic sexual stages. The sex ratio (proportion of males produced by parasites) is predicted to depend upon the inbreeding rate, and it has been suggested that sex-ratio data offer a relatively cheap and easy method for indirectly estimating inbreeding rates. Here, we exploit a new theoretical machinery to show that there are generally valid relationships between f, Wright's coefficient of inbreeding, and sex ratio, z(*), the generality being with respect to population structure. To focus the discussion, we concentrate on malaria and show that the previously derived result, f = 1 - 2z(*), does not depend on the artificial assumptions about population structure that were previously made. Not only does this justify the use of sex ratio as an indirect measure of f, but also we argue that it may actually be preferable to measure f by measuring sex ratios, rather than by measuring departures from Hardy-Weinberg genotypic proportions both in malaria and parasites more generally. PMID:11934369

Nee, Sean; West, Stuart A; Read, Andrew F

2002-01-01

420

Sex work: a comparative study.  

PubMed

Explanations of adult involvement in sex work typically adopt one of two approaches. One perspective highlights a variety of negative experiences in childhood and adolescence, including physical and sexual abuse, family instability, poverty, associations with "pimps" and other exploiters, homelessness, and drug use. An alternative account recognizes that some of these factors may be involved, but underscores the contribution of more immediate circumstances, such as current economic needs, human capital, and employment opportunities. Prior research offers a limited assessment of these contrasting claims: most studies have focused exclusively on people working in the sex industry and they have not assessed the independent effects of life course variables central to these two perspectives. We add to this literature with an analysis that drew on insights from life course and life-span development theories and considered the contributions of factors from childhood, adolescence, and adulthood. Our comparative approach examined predictors of employment in sex work relative to two other low-income service or care work occupations: food and beverage serving and barbering and hairstyling. Using data from a study of almost 600 workers from two cities, one in Canada and the other in the United States, we found that both immediate circumstances and negative experiences from early life are related to current sex work involvement: childhood poverty, abuse, and family instability were independently associated with adult sex work, as were limited education and employment experience, adult drug use, and marital status. PMID:24671729

McCarthy, Bill; Benoit, Cecilia; Jansson, Mikael

2014-10-01

421

Wild sex in zebrafish: loss of the natural sex determinant in domesticated strains.  

PubMed

Sex determination can be robustly genetic, strongly environmental, or genetic subject to environmental perturbation. The genetic basis of sex determination is unknown for zebrafish (Danio rerio), a model for development and human health. We used RAD-tag population genomics to identify sex-linked polymorphisms. After verifying this "RAD-sex" method on medaka (Oryzias latipes), we studied two domesticated zebrafish strains (AB and TU), two natural laboratory strains (WIK and EKW), and two recent isolates from nature (NA and CB). All four natural strains had a single sex-linked region at the right tip of chromosome 4, enabling sex genotyping by PCR. Genotypes for the single nucleotide polymorphism (SNP) with the strongest statistical association to sex suggested that wild zebrafish have WZ/ZZ sex chromosomes. In natural strains, "male genotypes" became males and some "female genotypes" also became males, suggesting that the environment or genetic background can cause female-to-male sex reversal. Surprisingly, TU and AB lacked detectable sex-linked loci. Phylogenomics rooted on D. nigrofasciatus verified that all strains are monophyletic. Because AB and TU branched as a monophyletic clade, we could not rule out shared loss of the wild sex locus in a common ancestor despite their independent domestication. Mitochondrial DNA sequences showed that investigated strains represent only one of the three identified zebrafish haplogroups. Results suggest that zebrafish in nature possess a WZ/ZZ sex-determination mechanism with a major determinant lying near the right telomere of chromosome 4 that was modified during domestication. Strains providing the zebrafish reference genome lack key components of the natural sex-determination system but may have evolved variant sex-determining mechanisms during two decades in laboratory culture. PMID:25233988

Wilson, Catherine A; High, Samantha K; McCluskey, Braedan M; Amores, Angel; Yan, Yi-lin; Titus, Tom A; Anderson, Jennifer L; Batzel, Peter; Carvan, Michael J; Schartl, Manfred; Postlethwait, John H

2014-11-01